text
stringlengths 297
230k
| title
stringlengths 4
145
| cui
stringlengths 4
10
| idx
int64 0
30.7k
| source
stringclasses 6
values | source_url
stringlengths 33
155
| retrieved_date
timestamp[s] | classification_map
stringlengths 2
1.45k
|
|---|---|---|---|---|---|---|---|
For the medical journal, see Obesity (journal).
Medical condition in which excess body fat harms health
Obesity
Silhouettes and waist circumferences representing optimal, overweight, and obese
SpecialtyEndocrinology
SymptomsIncreased fat[1]
ComplicationsCardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, osteoarthritis, depression[2][3]
CausesExcessive food, lack of exercise, genetics[1][4]
Diagnostic methodBMI > 30 kg/m2[1]
PreventionSocietal changes, personal choices[1]
TreatmentDiet, exercise, medications, surgery[1][5][6]
PrognosisReduced life expectancy[2]
Frequency700 million / 12% (2015)[7]
Part of a series on
Human body weight
General concepts
* Obesity (Epidemiology)
* Overweight
* Underweight
* Body shape
* Weight gain
* Weight loss
* Gestational weight gain
* Diet (nutrition)
* Weight management
* Overnutrition
* Childhood obesity (Epidemiology)
Medical concepts
* Adipose tissue
* Classification of obesity
* Genetics of obesity
* Metabolic syndrome (Epidemiology of metabolic syndrome)
* Metabolically healthy obesity
* Obesity paradox
Measurements
* Body adiposity index
* Body mass index
* Body fat percentage
* Body Shape Index
* Corpulence index
* Lean body mass
* Relative Fat Mass
* Waist–hip ratio
* Waist-to-height ratio
Related conditions
* Diabetes (Type 1)
* Eating disorder (Anorexia • Bulimia • Binge eating disorder)
* Food addiction
* Hyperthyroidism
* Malnutrition
* RED-S
* Starvation (Starvation response)
* PCOS
Obesity-associated morbidity
* Arteriosclerosis
* Atherosclerosis
* Fatty liver disease
* GERD
* Heart disease
* Hypertension
* Obesity and cancer
* Osteoarthritis
* Prediabetes
* Sleep apnea
* Type 2 diabetes
Management of obesity
* Anti-obesity medication
* Bariatrics
* Bariatric surgery
* Dieting (List of diets)
* Caloric deficit
* Exercise (outline)
* Liposuction
* Obesity medicine
* Weight loss camp
* Weight loss coaching
* Yo-yo effect
Social aspects
* Comfort food
* Fast food (Criticism)
* Fat acceptance movement
* Fat fetishism
* Health at Every Size
* Hunger
* Obesity and the environment
* Sedentary lifestyle
* Social determinants of obesity
* Social stigma of obesity
* Weight cutting
* Weight class
* v
* t
* e
Obesity is a medical condition in which excess body fat has accumulated to an extent that it may have a negative effect on health.[1] People are generally considered obese when their body mass index (BMI), a measurement obtained by dividing a person's weight by the square of the person's height—despite known allometric inaccuracies[a]—is over 30 kg/m2; the range 25–30 kg/m2 is defined as overweight.[1] Some East Asian countries use lower values.[10] Obesity is correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis.[2] High BMI is a marker of risk, but not proven to be a direct cause, for diseases caused by diet, physical activity, and environmental factors.[11] A reciprocal link has been found between obesity and depression, with obesity increasing the risk of clinical depression and also depression leading to a higher chance of developing obesity.[3]
Obesity has individual, socioeconomic, and environmental causes, including diet, physical activity, automation, urbanization, genetic susceptibility, medications, mental disorders, economic policies, endocrine disorders, and exposure to endocrine-disrupting chemicals.[1][4][12][13] While a majority of obese individuals at any given time are attempting to lose weight and often successful, research shows that maintaining that weight loss over the long term proves to be rare.[14] The reasons for weight cycling are not fully understood but may include decreased energy expenditure combined with increased biological urge to eat during and after caloric restriction.[14] More studies are needed to determine if weight cycling and yo-yo dieting contribute to inflammation and disease risk in obese individuals.[14]
Obesity prevention requires a complex approach, including interventions at community, family, and individual levels.[1][11] Changes to diet and exercising are the main treatments recommended by health professionals.[2] Diet quality can be improved by reducing the consumption of energy-dense foods, such as those high in fat or sugars, and by increasing the intake of dietary fiber.[1] However, large-scale analyses have found an inverse relationship between energy density and energy cost of foods in developed nations.[15] Low-income populations are more likely to live in neighborhoods that are considered "food deserts" or "food swamps" where nutritional groceries are less available.[16] Medications can be used, along with a suitable diet, to reduce appetite or decrease fat absorption.[5] If diet, exercise, and medication are not effective, a gastric balloon or surgery may be performed to reduce stomach volume or length of the intestines, leading to feeling full earlier or a reduced ability to absorb nutrients from food.[6][17]
Obesity is a leading preventable cause of death worldwide, with increasing rates in adults and children.[1][18] In 2015, 600 million adults (12%) and 100 million children were obese in 195 countries.[7] Obesity is more common in women than in men.[1] Authorities view it as one of the most serious public health problems of the 21st century.[19] Obesity is stigmatized in much of the modern world (particularly in the Western world), though it was seen as a symbol of wealth and fertility at other times in history and still is in some parts of the world.[2][20] In 2013, several medical societies, including the American Medical Association and the American Heart Association, classified obesity as a disease.[21][22][23]
## Contents
* 1 Classification
* 2 Effects on health
* 2.1 Mortality
* 2.2 Morbidity
* 2.3 Survival paradox
* 3 Causes
* 3.1 Diet
* 3.2 Sedentary lifestyle
* 3.3 Genetics
* 3.4 Other illnesses
* 3.5 Social determinants
* 3.6 Gut bacteria
* 3.7 Other factors
* 4 Pathophysiology
* 5 Public health
* 5.1 Reports
* 6 Management
* 7 Medical interventions
* 8 Epidemiology
* 9 History
* 9.1 Etymology
* 9.2 Historical attitudes
* 9.3 The arts
* 10 Society and culture
* 10.1 Economic impact
* 10.2 Size acceptance
* 10.3 Industry influence on research
* 11 Childhood obesity
* 12 Other animals
* 13 References
## Classification
Main article: Classification of obesity
BMI (kg/m2) Classification[24]
from up to
18.5 underweight
18.5 25.0 normal weight
25.0 30.0 overweight
30.0 35.0 class I obesity
35.0 40.0 class II obesity
40.0 class III obesity
A "super obese" male with a BMI of 53 kg/m2: weight 182 kg (400 lb), height 185 cm (6 ft 1 in). He presents with stretch marks and enlarged breasts.
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health.[25] It is defined by body mass index (BMI) and further evaluated in terms of fat distribution via the waist–hip ratio and total cardiovascular risk factors.[26][27] BMI is closely related to both percentage body fat and total body fat.[28] In children, a healthy weight varies with age and sex. Obesity in children and adolescents is defined not as an absolute number but in relation to a historical normal group, such that obesity is a BMI greater than the 95th percentile.[29] The reference data on which these percentiles were based date from 1963 to 1994, and thus have not been affected by the recent increases in weight.[30] BMI is defined as the subject's weight divided by the square of their height and is calculated as follows.
B M I = m h 2 {\displaystyle \mathrm {BMI} ={\frac {m}{h^{2}}}} ,
where m and h are the subject's weight and height respectively.
BMI is usually expressed in kilograms of weight per metre squared of height. To convert from pounds per inch squared multiply by 703 (kg/m2)/(lb/sq in).[31]
The most commonly used definitions, established by the World Health Organization (WHO) in 1997 and published in 2000, provide the values listed in the table.[32][33]
Some modifications to the WHO definitions have been made by particular organizations.[34] The surgical literature breaks down class II and III obesity into further categories whose exact values are still disputed.[35]
* Any BMI ≥ 35 or 40 kg/m2 is severe obesity.
* A BMI of ≥ 35 kg/m2 and experiencing obesity-related health conditions or ≥40–44.9 kg/m2 is morbid obesity.
* A BMI of ≥ 45 or 50 kg/m2 is super obesity.
As Asian populations develop negative health consequences at a lower BMI than Caucasians, some nations have redefined obesity; Japan has defined obesity as any BMI greater than 25 kg/m2[10] while China uses a BMI of greater than 28 kg/m2.[34]
## Effects on health
Excessive body weight is associated with various diseases and conditions, particularly cardiovascular diseases, diabetes mellitus type 2, obstructive sleep apnea, certain types of cancer, osteoarthritis,[2] and asthma.[2][36] As a result, obesity has been found to reduce life expectancy.[2]
### Mortality
Relative risk of death over 10 years in white people who have never smoked in the United States by BMI. The BMI range 22.5 to 24.9 is set as the reference.[37]
Obesity is one of the leading preventable causes of death worldwide.[38][39][40] A number of reviews have found that mortality risk is lowest at a BMI of 20–25 kg/m2[41][42][43] in non-smokers and at 24–27 kg/m2 in current smokers, with risk increasing along with changes in either direction.[44][45] This appears to apply in at least four continents.[43] In contrast, a 2013 review found that grade 1 obesity (BMI 30–35) was not associated with higher mortality than normal weight, and that overweight (BMI 25–30) was associated with "lower" mortality than was normal weight (BMI 18.5–25).[46] Other evidence suggests that the association of BMI and waist circumference with mortality is U- or J-shaped, while the association between waist-to-hip ratio and waist-to-height ratio with mortality is more positive.[47] In Asians the risk of negative health effects begins to increase between 22–25 kg/m2.[48] A BMI above 32 kg/m2 has been associated with a doubled mortality rate among women over a 16-year period.[49] In the United States, obesity is estimated to cause 111,909 to 365,000 deaths per year,[2][40] while 1 million (7.7%) of deaths in Europe are attributed to excess weight.[50][51] On average, obesity reduces life expectancy by six to seven years,[2][52] a BMI of 30–35 kg/m2 reduces life expectancy by two to four years,[42] while severe obesity (BMI > 40 kg/m2) reduces life expectancy by ten years.[42]
### Morbidity
Main article: Obesity-associated morbidity
Obesity increases the risk of many physical and mental conditions. These comorbidities are most commonly shown in metabolic syndrome,[2] a combination of medical disorders which includes: diabetes mellitus type 2, high blood pressure, high blood cholesterol, and high triglyceride levels.[53]
Complications are either directly caused by obesity or indirectly related through mechanisms sharing a common cause such as a poor diet or a sedentary lifestyle. The strength of the link between obesity and specific conditions varies. One of the strongest is the link with type 2 diabetes. Excess body fat underlies 64% of cases of diabetes in men and 77% of cases in women.[54]
Health consequences fall into two broad categories: those attributable to the effects of increased fat mass (such as osteoarthritis, obstructive sleep apnea, social stigmatization) and those due to the increased number of fat cells (diabetes, cancer, cardiovascular disease, non-alcoholic fatty liver disease).[2][55] Increases in body fat alter the body's response to insulin, potentially leading to insulin resistance. Increased fat also creates a proinflammatory state,[56][57] and a prothrombotic state.[55][58]
Obesity increases the risk of developing serious illness from coronavirus disease 2019.[59]
Medical field Condition Medical field Condition
Cardiology
* coronary heart disease:[60] angina and myocardial infarction
* congestive heart failure[2][61]
* high blood pressure[2]
* abnormal cholesterol levels[2]
* deep vein thrombosis and pulmonary embolism[62]
Dermatology
* stretch marks[63]
* acanthosis nigricans[63]
* lymphedema[63]
* cellulitis[63]
* hirsutism[63]
* intertrigo[64]
Endocrinology and Reproductive medicine
* diabetes mellitus[2]
* polycystic ovarian syndrome[2]
* menstrual disorders[2]
* infertility[2][65]
* complications during pregnancy[2][65]
* birth defects[2]
* intrauterine fetal death[65]
Gastroenterology
* gastroesophageal reflux disease[19]
* fatty liver disease[19]
* cholelithiasis (gallstones)[19]
Neurology
* stroke[2]
* meralgia paresthetica[66]
* migraines[67]
* carpal tunnel syndrome[68]
* dementia[69]
* idiopathic intracranial hypertension[70]
* multiple sclerosis[71]
Oncology[72]
* esophageal
* colorectal
* pancreatic
* gallbladder
* endometrial
* kidney
* Leukemia
* Hepatocellular carcinoma[19]
* malignant melanoma
Psychiatry
* depression in women[2]
* social stigmatization[2]
Respirology
* obstructive sleep apnea[2][36]
* obesity hypoventilation syndrome[2][36]
* asthma[2][36]
* increased complications during general anaesthesia[2]
Rheumatology and Orthopedics
* gout[73]
* poor mobility[74]
* osteoarthritis[2]
* low back pain[75]
Urology and Nephrology
* erectile dysfunction[76]
* urinary incontinence[77]
* chronic renal failure[78]
* hypogonadism[79]
* buried penis[80]
### Survival paradox
See also: Obesity paradox
Although the negative health consequences of obesity in the general population are well supported by the available evidence, health outcomes in certain subgroups seem to be improved at an increased BMI, a phenomenon known as the obesity survival paradox.[81] The paradox was first described in 1999 in overweight and obese people undergoing hemodialysis,[81] and has subsequently been found in those with heart failure and peripheral artery disease (PAD).[82]
In people with heart failure, those with a BMI between 30.0 and 34.9 had lower mortality than those with a normal weight. This has been attributed to the fact that people often lose weight as they become progressively more ill.[83] Similar findings have been made in other types of heart disease. People with class I obesity and heart disease do not have greater rates of further heart problems than people of normal weight who also have heart disease. In people with greater degrees of obesity, however, the risk of further cardiovascular events is increased.[84][85] Even after cardiac bypass surgery, no increase in mortality is seen in the overweight and obese.[86] One study found that the improved survival could be explained by the more aggressive treatment obese people receive after a cardiac event.[87] Another study found that if one takes into account chronic obstructive pulmonary disease (COPD) in those with PAD, the benefit of obesity no longer exists.[82]
## Causes
At an individual level, a combination of excessive food energy intake and a lack of physical activity is thought to explain most cases of obesity.[88] A limited number of cases are due primarily to genetics, medical reasons, or psychiatric illness.[13] In contrast, increasing rates of obesity at a societal level are felt to be due to an easily accessible and palatable diet,[89] increased reliance on cars, and mechanized manufacturing.[90][91]
A 2006 review identified ten other possible contributors to the recent increase of obesity: (1) insufficient sleep, (2) endocrine disruptors (environmental pollutants that interfere with lipid metabolism), (3) decreased variability in ambient temperature, (4) decreased rates of smoking, because smoking suppresses appetite, (5) increased use of medications that can cause weight gain (e.g., atypical antipsychotics), (6) proportional increases in ethnic and age groups that tend to be heavier, (7) pregnancy at a later age (which may cause susceptibility to obesity in children), (8) epigenetic risk factors passed on generationally, (9) natural selection for higher BMI, and (10) assortative mating leading to increased concentration of obesity risk factors (this would increase the number of obese people by increasing population variance in weight).[92] According to the Endocrine Society, there is "growing evidence suggesting that obesity is a disorder of the energy homeostasis system, rather than simply arising from the passive accumulation of excess weight".[93]
### Diet
Main article: Diet and obesity
1961
2001–03
Map of dietary energy availability per person per day in 1961 (left) and 2001–2003 (right)[94] Calories per person per day (kilojoules per person per day)
no data
<1,600 (<6,700)
1,600–1,800 (6,700–7,500)
1,800–2,000 (7,500–8,400)
2,000–2,200 (8,400–9,200)
2,200–2,400 (9,200–10,000)
2,400–2,600 (10,000–10,900)
2,600–2,800 (10,900–11,700)
2,800–3,000 (11,700–12,600)
3,000–3,200 (12,600–13,400)
3,200–3,400 (13,400–14,200)
3,400–3,600 (14,200–15,100)
>3,600 (>15,100)
Average per capita energy consumption of the world from 1961 to 2002[94]
A 2016 review supported excess food as the primary factor.[95][96] Dietary energy supply per capita varies markedly between different regions and countries. It has also changed significantly over time.[94] From the early 1970s to the late 1990s the average food energy available per person per day (the amount of food bought) increased in all parts of the world except Eastern Europe. The United States had the highest availability with 3,654 calories (15,290 kJ) per person in 1996.[94] This increased further in 2003 to 3,754 calories (15,710 kJ).[94] During the late 1990s Europeans had 3,394 calories (14,200 kJ) per person, in the developing areas of Asia there were 2,648 calories (11,080 kJ) per person, and in sub-Saharan Africa people had 2,176 calories (9,100 kJ) per person.[94][97] Total food energy consumption has been found to be related to obesity.[98]
The widespread availability of nutritional guidelines[99] has done little to address the problems of overeating and poor dietary choice.[100] From 1971 to 2000, obesity rates in the United States increased from 14.5% to 30.9%.[101] During the same period, an increase occurred in the average amount of food energy consumed. For women, the average increase was 335 calories (1,400 kJ) per day (1,542 calories (6,450 kJ) in 1971 and 1,877 calories (7,850 kJ) in 2004), while for men the average increase was 168 calories (700 kJ) per day (2,450 calories (10,300 kJ) in 1971 and 2,618 calories (10,950 kJ) in 2004). Most of this extra food energy came from an increase in carbohydrate consumption rather than fat consumption.[102] The primary sources of these extra carbohydrates are sweetened beverages, which now account for almost 25 percent of daily food energy in young adults in America,[103] and potato chips.[104] Consumption of sweetened drinks such as soft drinks, fruit drinks, iced tea, and energy and vitamin water drinks is believed to be contributing to the rising rates of obesity[105][106] and to an increased risk of metabolic syndrome and type 2 diabetes.[107] Vitamin D deficiency is related to diseases associated with obesity.[108]
As societies become increasingly reliant on energy-dense, big-portions, and fast-food meals, the association between fast-food consumption and obesity becomes more concerning.[109] In the United States consumption of fast-food meals tripled and food energy intake from these meals quadrupled between 1977 and 1995.[110]
Agricultural policy and techniques in the United States and Europe have led to lower food prices. In the United States, subsidization of corn, soy, wheat, and rice through the U.S. farm bill has made the main sources of processed food cheap compared to fruits and vegetables.[111] Calorie count laws and nutrition facts labels attempt to steer people toward making healthier food choices, including awareness of how much food energy is being consumed.
Obese people consistently under-report their food consumption as compared to people of normal weight.[112] This is supported both by tests of people carried out in a calorimeter room[113] and by direct observation.
### Sedentary lifestyle
See also: Sedentary lifestyle and Exercise trends
A sedentary lifestyle plays a significant role in obesity.[114] Worldwide there has been a large shift towards less physically demanding work,[115][116][117] and currently at least 30% of the world's population gets insufficient exercise.[116] This is primarily due to increasing use of mechanized transportation and a greater prevalence of labor-saving technology in the home.[115][116][117] In children, there appear to be declines in levels of physical activity due to less walking and physical education.[118] World trends in active leisure time physical activity are less clear. The World Health Organization indicates people worldwide are taking up less active recreational pursuits, while a study from Finland[119] found an increase and a study from the United States found leisure-time physical activity has not changed significantly.[120] A 2011 review of physical activity in children found that it may not be a significant contributor.[121]
In both children and adults, there is an association between television viewing time and the risk of obesity.[122][123][124] A review found 63 of 73 studies (86%) showed an increased rate of childhood obesity with increased media exposure, with rates increasing proportionally to time spent watching television.[125]
### Genetics
Main article: Genetics of obesity
A 1680 painting by Juan Carreno de Miranda of a girl presumed to have Prader–Willi syndrome[126]
Like many other medical conditions, obesity is the result of an interplay between genetic and environmental factors.[127] Polymorphisms in various genes controlling appetite and metabolism predispose to obesity when sufficient food energy is present. As of 2006, more than 41 of these sites on the human genome have been linked to the development of obesity when a favorable environment is present.[128] People with two copies of the FTO gene (fat mass and obesity associated gene) have been found on average to weigh 3–4 kg more and have a 1.67-fold greater risk of obesity compared with those without the risk allele.[129] The differences in BMI between people that are due to genetics varies depending on the population examined from 6% to 85%.[130]
Obesity is a major feature in several syndromes, such as Prader–Willi syndrome, Bardet–Biedl syndrome, Cohen syndrome, and MOMO syndrome. (The term "non-syndromic obesity" is sometimes used to exclude these conditions.)[131] In people with early-onset severe obesity (defined by an onset before 10 years of age and body mass index over three standard deviations above normal), 7% harbor a single point DNA mutation.[132]
Studies that have focused on inheritance patterns rather than on specific genes have found that 80% of the offspring of two obese parents were also obese, in contrast to less than 10% of the offspring of two parents who were of normal weight.[133] Different people exposed to the same environment have different risks of obesity due to their underlying genetics.[134]
The thrifty gene hypothesis postulates that, due to dietary scarcity during human evolution, people are prone to obesity. Their ability to take advantage of rare periods of abundance by storing energy as fat would be advantageous during times of varying food availability, and individuals with greater adipose reserves would be more likely to survive famine. This tendency to store fat, however, would be maladaptive in societies with stable food supplies.[135] This theory has received various criticisms, and other evolutionarily-based theories such as the drifty gene hypothesis and the thrifty phenotype hypothesis have also been proposed.[136][137]
### Other illnesses
Certain physical and mental illnesses and the pharmaceutical substances used to treat them can increase risk of obesity. Medical illnesses that increase obesity risk include several rare genetic syndromes (listed above) as well as some congenital or acquired conditions: hypothyroidism, Cushing's syndrome, growth hormone deficiency,[138] and some eating disorders such as binge eating disorder and night eating syndrome.[2] However, obesity is not regarded as a psychiatric disorder, and therefore is not listed in the DSM-IVR as a psychiatric illness.[139] The risk of overweight and obesity is higher in patients with psychiatric disorders than in persons without psychiatric disorders.[140]
Certain medications may cause weight gain or changes in body composition; these include insulin, sulfonylureas, thiazolidinediones, atypical antipsychotics, antidepressants, steroids, certain anticonvulsants (phenytoin and valproate), pizotifen, and some forms of hormonal contraception.[2]
### Social determinants
Main article: Social determinants of obesity
The disease scroll (Yamai no soshi, late 12th century) depicts a woman moneylender with obesity, considered a disease of the rich.
Obesity in developed countries is correlated with economic inequality
While genetic influences are important to understanding obesity, they cannot explain the current dramatic increase seen within specific countries or globally.[141] Though it is accepted that energy consumption in excess of energy expenditure leads to obesity on an individual basis, the cause of the shifts in these two factors on the societal scale is much debated. There are a number of theories as to the cause but most believe it is a combination of various factors.
The correlation between social class and BMI varies globally. A review in 1989 found that in developed countries women of a high social class were less likely to be obese. No significant differences were seen among men of different social classes. In the developing world, women, men, and children from high social classes had greater rates of obesity.[142] An update of this review carried out in 2007 found the same relationships, but they were weaker. The decrease in strength of correlation was felt to be due to the effects of globalization.[143] Among developed countries, levels of adult obesity, and percentage of teenage children who are overweight, are correlated with income inequality. A similar relationship is seen among US states: more adults, even in higher social classes, are obese in more unequal states.[144]
Many explanations have been put forth for associations between BMI and social class. It is thought that in developed countries, the wealthy are able to afford more nutritious food, they are under greater social pressure to remain slim, and have more opportunities along with greater expectations for physical fitness. In undeveloped countries the ability to afford food, high energy expenditure with physical labor, and cultural values favoring a larger body size are believed to contribute to the observed patterns.[143] Attitudes toward body weight held by people in one's life may also play a role in obesity. A correlation in BMI changes over time has been found among friends, siblings, and spouses.[145] Stress and perceived low social status appear to increase risk of obesity.[144][146][147]
Smoking has a significant effect on an individual's weight. Those who quit smoking gain an average of 4.4 kilograms (9.7 lb) for men and 5.0 kilograms (11.0 lb) for women over ten years.[148] However, changing rates of smoking have had little effect on the overall rates of obesity.[149]
In the United States the number of children a person has is related to their risk of obesity. A woman's risk increases by 7% per child, while a man's risk increases by 4% per child.[150] This could be partly explained by the fact that having dependent children decreases physical activity in Western parents.[151]
In the developing world urbanization is playing a role in increasing rate of obesity. In China overall rates of obesity are below 5%; however, in some cities rates of obesity are greater than 20%.[152]
Malnutrition in early life is believed to play a role in the rising rates of obesity in the developing world.[153] Endocrine changes that occur during periods of malnutrition may promote the storage of fat once more food energy becomes available.[153]
Consistent with cognitive epidemiological data, numerous studies confirm that obesity is associated with cognitive deficits.[154][155]
Whether obesity causes cognitive deficits, or vice versa is unclear at present.
### Gut bacteria
See also: Infectobesity
The study of the effect of infectious agents on metabolism is still in its early stages. Gut flora has been shown to differ between lean and obese people. There is an indication that gut flora can affect the metabolic potential. This apparent alteration is believed to confer a greater capacity to harvest energy contributing to obesity. Whether these differences are the direct cause or the result of obesity has yet to be determined unequivocally.[156] The use of antibiotics among children has also been associated with obesity later in life.[157][158]
An association between viruses and obesity has been found in humans and several different animal species. The amount that these associations may have contributed to the rising rate of obesity is yet to be determined.[159]
### Other factors
A number of reviews have found an association between short duration of sleep and obesity.[160][161] Whether one causes the other is unclear.[160] Even if shorts sleep does increase weight gain it is unclear if this is to a meaningful degree or increasing sleep would be of benefit.[162]
Certain aspects of personality are associated with being obese.[163] Neuroticism, impulsivity, and sensitivity to reward are more common in people who are obese while conscientiousness and self-control are less common in people who are obese.[163][164] Loneliness is also a risk factor.[165]
## Pathophysiology
A comparison of a mouse unable to produce leptin thus resulting in obesity (left) and a normal mouse (right)
Main article: Pathophysiology of obesity
There are many possible pathophysiological mechanisms involved in the development and maintenance of obesity.[166] This field of research had been almost unapproached until the leptin gene was discovered in 1994 by J. M. Friedman's laboratory.[167] While leptin and ghrelin are produced peripherally, they control appetite through their actions on the central nervous system. In particular, they and other appetite-related hormones act on the hypothalamus, a region of the brain central to the regulation of food intake and energy expenditure. There are several circuits within the hypothalamus that contribute to its role in integrating appetite, the melanocortin pathway being the most well understood.[166] The circuit begins with an area of the hypothalamus, the arcuate nucleus, that has outputs to the lateral hypothalamus (LH) and ventromedial hypothalamus (VMH), the brain's feeding and satiety centers, respectively.[168]
The arcuate nucleus contains two distinct groups of neurons.[166] The first group coexpresses neuropeptide Y (NPY) and agouti-related peptide (AgRP) and has stimulatory inputs to the LH and inhibitory inputs to the VMH. The second group coexpresses pro-opiomelanocortin (POMC) and cocaine- and amphetamine-regulated transcript (CART) and has stimulatory inputs to the VMH and inhibitory inputs to the LH. Consequently, NPY/AgRP neurons stimulate feeding and inhibit satiety, while POMC/CART neurons stimulate satiety and inhibit feeding. Both groups of arcuate nucleus neurons are regulated in part by leptin. Leptin inhibits the NPY/AgRP group while stimulating the POMC/CART group. Thus a deficiency in leptin signaling, either via leptin deficiency or leptin resistance, leads to overfeeding and may account for some genetic and acquired forms of obesity.[166]
## Public health
The World Health Organization (WHO) predicts that overweight and obesity may soon replace more traditional public health concerns such as undernutrition and infectious diseases as the most significant cause of poor health.[169] Obesity is a public health and policy problem because of its prevalence, costs, and health effects.[170] The United States Preventive Services Task Force recommends screening for all adults followed by behavioral interventions in those who are obese.[171] Public health efforts seek to understand and correct the environmental factors responsible for the increasing prevalence of obesity in the population. Solutions look at changing the factors that cause excess food energy consumption and inhibit physical activity. Efforts include federally reimbursed meal programs in schools, limiting direct junk food marketing to children,[172] and decreasing access to sugar-sweetened beverages in schools.[173] The World Health Organization recommends the taxing of sugary drinks.[174] When constructing urban environments, efforts have been made to increase access to parks and to develop pedestrian routes.[175] There is low quality evidence that nutritional labelling with energy information on menus can help to reduce energy intake while dining in restaurants.[176]
### Reports
Many organizations have published reports pertaining to obesity. In 1998, the first US Federal guidelines were published, titled "Clinical Guidelines on the Identification, Evaluation, and Treatment of Overweight and Obesity in Adults: The Evidence Report".[177] In 2006 the Canadian Obesity Network, now known as Obesity Canada published the "Canadian Clinical Practice Guidelines (CPG) on the Management and Prevention of Obesity in Adults and Children". This is a comprehensive evidence-based guideline to address the management and prevention of overweight and obesity in adults and children.[88]
In 2004, the United Kingdom Royal College of Physicians, the Faculty of Public Health and the Royal College of Paediatrics and Child Health released the report "Storing up Problems", which highlighted the growing problem of obesity in the UK.[178] The same year, the House of Commons Health Select Committee published its "most comprehensive inquiry [...] ever undertaken" into the impact of obesity on health and society in the UK and possible approaches to the problem.[179] In 2006, the National Institute for Health and Clinical Excellence (NICE) issued a guideline on the diagnosis and management of obesity, as well as policy implications for non-healthcare organizations such as local councils.[180] A 2007 report produced by Derek Wanless for the King's Fund warned that unless further action was taken, obesity had the capacity to cripple the National Health Service financially.[181]
Comprehensive approaches are being looked at to address the rising rates of obesity. The Obesity Policy Action (OPA) framework divides measure into 'upstream' policies, 'midstream' policies, 'downstream' policies. 'Upstream' policies look at changing society, 'midstream' policies try to alter individuals' behavior to prevent obesity, and 'downstream' policies try to treat currently afflicted people.[182]
## Management
Main article: Management of obesity
The main treatment for obesity consists of weight loss via calorie restricted dieting and physical exercise.[21][88][183][184] Dieting, as part of a lifestyle change, produces sustained weight loss, despite slow weight regain over time.[21][185][186][187] Although 87% of participants in the National Weight Control Registry were able to maintain 10% body weight loss for 10 years,[188] the most appropriate dietary approach for long term weight loss maintenance is still unknown.[189] Intensive behavioral interventions combining both dietary changes and exercise are recommended.[21][183][190] Intermittent fasting has no additional benefit of weight loss compared to continuous energy restriction.[189] Adherence is a more important factor in weight loss success than whatever kind of diet an individual undertakes.[189][191]
Several hypo-caloric diets are effective.[21] In the short-term low carbohydrate diets appear better than low fat diets for weight loss.[192] In the long term, however, all types of low-carbohydrate and low-fat diets appear equally beneficial.[192][193] A 2014 review found that the heart disease and diabetes risks associated with different diets appear to be similar.[194] Promotion of the Mediterranean diets among the obese may lower the risk of heart disease.[192] Decreased intake of sweet drinks is also related to weight-loss.[192] Success rates of long-term weight loss maintenance with lifestyle changes are low, ranging from 2–20%.[195] Dietary and lifestyle changes are effective in limiting excessive weight gain in pregnancy and improve outcomes for both the mother and the child.[196] Intensive behavioral counseling is recommended in those who are both obese and have other risk factors for heart disease.[197]
## Medical interventions
Five medications have evidence for long-term use orlistat, lorcaserin, liraglutide, phentermine–topiramate, and naltrexone–bupropion.[198] They result in weight loss after one year ranged from 3.0 to 6.7 kg (6.6-14.8 lbs) over placebo.[198] Orlistat, liraglutide, and naltrexone–bupropion are available in both the United States and Europe, whereas phentermine–topiramate are available only in the United States.[199] European regulatory authorities rejected the latter two drugs in part because of associations of heart valve problems with lorcaserin and more general heart and blood vessel problems with phentermine–topiramate.[199] Lorcaserin was available in the United States and than removed from the market in 2020 due to its association with cancer.[200] Orlistat use is associated with high rates of gastrointestinal side effects[201] and concerns have been raised about negative effects on the kidneys.[202] There is no information on how these drugs affect longer-term complications of obesity such as cardiovascular disease or death.[5]
The most effective treatment for obesity is bariatric surgery.[6][21] The types of procedures include laparoscopic adjustable gastric banding, Roux-en-Y gastric bypass, vertical-sleeve gastrectomy, and biliopancreatic diversion.[198] Surgery for severe obesity is associated with long-term weight loss, improvement in obesity-related conditions,[203] and decreased overall mortality, however, improved metabolic health results from the weight loss, not the surgery.[204] One study found a weight loss of between 14% and 25% (depending on the type of procedure performed) at 10 years, and a 29% reduction in all cause mortality when compared to standard weight loss measures.[205] Complications occur in about 17% of cases and reoperation is needed in 7% of cases.[203] Due to its cost and risks, researchers are searching for other effective yet less invasive treatments including devices that occupy space in the stomach.[206] For adults who have not responded to behavioral treatments with or without medication, the US guidelines on obesity recommend informing them about bariatric surgery.[183]
## Epidemiology
Main article: Epidemiology of obesity
World obesity prevalence among males (left) and females (right) in 2008.[207]
<5%
5–10%
10–15%
15–20%
20–25%
25–30%
30–35%
35–40%
40–45%
45–50%
50–55%
>55%
See or edit source data.
Percentage of males either overweight or obese by year.[208]
In earlier historical periods obesity was rare, and achievable only by a small elite, although already recognised as a problem for health. But as prosperity increased in the Early Modern period, it affected increasingly larger groups of the population.[209]
In 1997 the WHO formally recognized obesity as a global epidemic.[103] As of 2008 the WHO estimates that at least 500 million adults (greater than 10%) are obese, with higher rates among women than men.[210] The percentage of adults affected in the United States as of 2015–2016 is about 39.6% overall (37.9% of males and 41.1% of females).[211]
The rate of obesity also increases with age at least up to 50 or 60 years old[212] and severe obesity in the United States, Australia, and Canada is increasing faster than the overall rate of obesity.[35][213][214] The OECD has projected an increase in obesity rates until at least 2030, especially in the United States, Mexico and England with rates reaching 47%, 39% and 35% respectively.[215]
Once considered a problem only of high-income countries, obesity rates are rising worldwide and affecting both the developed and developing world.[50] These increases have been felt most dramatically in urban settings.[210] The only remaining region of the world where obesity is not common is sub-Saharan Africa.[2]
## History
### Etymology
Obesity is from the Latin obesitas, which means "stout, fat, or plump". Ēsus is the past participle of edere (to eat), with ob (over) added to it.[216] The Oxford English Dictionary documents its first usage in 1611 by Randle Cotgrave.[217]
### Historical attitudes
During the Middle Ages and the Renaissance obesity was often seen as a sign of wealth, and was relatively common among the elite: The Tuscan General Alessandro del Borro, attributed to Charles Mellin, 1645[218]
Venus of Willendorf created 24,000–22,000 BC
Ancient Greek medicine recognizes obesity as a medical disorder, and records that the Ancient Egyptians saw it in the same way.[209] Hippocrates wrote that "Corpulence is not only a disease itself, but the harbinger of others".[2] The Indian surgeon Sushruta (6th century BCE) related obesity to diabetes and heart disorders.[219] He recommended physical work to help cure it and its side effects.[219] For most of human history mankind struggled with food scarcity.[220] Obesity has thus historically been viewed as a sign of wealth and prosperity. It was common among high officials in Europe in the Middle Ages and the Renaissance[218] as well as in Ancient East Asian civilizations.[221] In the 17th century, English medical author Tobias Venner is credited with being one of the first to refer to the term as a societal disease in a published English language book.[209][222]
With the onset of the Industrial Revolution it was realized that the military and economic might of nations were dependent on both the body size and strength of their soldiers and workers.[103] Increasing the average body mass index from what is now considered underweight to what is now the normal range played a significant role in the development of industrialized societies.[103] Height and weight thus both increased through the 19th century in the developed world. During the 20th century, as populations reached their genetic potential for height, weight began increasing much more than height, resulting in obesity.[103] In the 1950s increasing wealth in the developed world decreased child mortality, but as body weight increased heart and kidney disease became more common.[103][223] During this time period, insurance companies realized the connection between weight and life expectancy and increased premiums for the obese.[2]
Many cultures throughout history have viewed obesity as the result of a character flaw. The obesus or fat character in Ancient Greek comedy was a glutton and figure of mockery. During Christian times the food was viewed as a gateway to the sins of sloth and lust.[20] In modern Western culture, excess weight is often regarded as unattractive, and obesity is commonly associated with various negative stereotypes. People of all ages can face social stigmatization, and may be targeted by bullies or shunned by their peers.[224]
Public perceptions in Western society regarding healthy body weight differ from those regarding the weight that is considered ideal – and both have changed since the beginning of the 20th century. The weight that is viewed as an ideal has become lower since the 1920s. This is illustrated by the fact that the average height of Miss America pageant winners increased by 2% from 1922 to 1999, while their average weight decreased by 12%.[225] On the other hand, people's views concerning healthy weight have changed in the opposite direction. In Britain, the weight at which people considered themselves to be overweight was significantly higher in 2007 than in 1999.[226] These changes are believed to be due to increasing rates of adiposity leading to increased acceptance of extra body fat as being normal.[226]
Obesity is still seen as a sign of wealth and well-being in many parts of Africa. This has become particularly common since the HIV epidemic began.[2]
### The arts
The first sculptural representations of the human body 20,000–35,000 years ago depict obese females. Some attribute the Venus figurines to the tendency to emphasize fertility while others feel they represent "fatness" in the people of the time.[20] Corpulence is, however, absent in both Greek and Roman art, probably in keeping with their ideals regarding moderation. This continued through much of Christian European history, with only those of low socioeconomic status being depicted as obese.[20]
During the Renaissance some of the upper class began flaunting their large size, as can be seen in portraits of Henry VIII of England and Alessandro dal Borro.[20] Rubens (1577–1640) regularly depicted heavyset women in his pictures, from which derives the term Rubenesque. These women, however, still maintained the "hourglass" shape with its relationship to fertility.[227] During the 19th century, views on obesity changed in the Western world. After centuries of obesity being synonymous with wealth and social status, slimness began to be seen as the desirable standard.[20]
## Society and culture
### Economic impact
In addition to its health impacts, obesity leads to many problems including disadvantages in employment[228][229] and increased business costs. These effects are felt by all levels of society from individuals, to corporations, to governments.
In 2005, the medical costs attributable to obesity in the US were an estimated $190.2 billion or 20.6% of all medical expenditures,[230][231][232] while the cost of obesity in Canada was estimated at CA$2 billion in 1997 (2.4% of total health costs).[88] The total annual direct cost of overweight and obesity in Australia in 2005 was A$21 billion. Overweight and obese Australians also received A$35.6 billion in government subsidies.[233] The estimate range for annual expenditures on diet products is $40 billion to $100 billion in the US alone.[234]
The Lancet Commission on Obesity in 2019 called for a global treaty — modelled on the WHO Framework Convention on Tobacco Control — committing countries to address obesity and undernutrition, explicitly excluding the food industry from policy development. They estimate the global cost of obesity $2 trillion a year, about or 2.8% of world GDP.[235]
Obesity prevention programs have been found to reduce the cost of treating obesity-related disease. However, the longer people live, the more medical costs they incur. Researchers, therefore, conclude that reducing obesity may improve the public's health, but it is unlikely to reduce overall health spending.[236]
Services accommodate obese people with specialized equipment such as much wider chairs.[237]
Obesity can lead to social stigmatization and disadvantages in employment.[228] When compared to their normal weight counterparts, obese workers on average have higher rates of absenteeism from work and take more disability leave, thus increasing costs for employers and decreasing productivity.[238] A study examining Duke University employees found that people with a BMI over 40 kg/m2 filed twice as many workers' compensation claims as those whose BMI was 18.5–24.9 kg/m2. They also had more than 12 times as many lost work days. The most common injuries in this group were due to falls and lifting, thus affecting the lower extremities, wrists or hands, and backs.[239] The Alabama State Employees' Insurance Board approved a controversial plan to charge obese workers $25 a month for health insurance that would otherwise be free unless they take steps to lose weight and improve their health. These measures started in January 2010 and apply to those state workers whose BMI exceeds 35 kg/m2 and who fail to make improvements in their health after one year.[240]
Some research shows that obese people are less likely to be hired for a job and are less likely to be promoted.[224] Obese people are also paid less than their non-obese counterparts for an equivalent job; obese women on average make 6% less and obese men make 3% less.[241]
Specific industries, such as the airline, healthcare and food industries, have special concerns. Due to rising rates of obesity, airlines face higher fuel costs and pressures to increase seating width.[242] In 2000, the extra weight of obese passengers cost airlines US$275 million.[243] The healthcare industry has had to invest in special facilities for handling severely obese patients, including special lifting equipment and bariatric ambulances.[244] Costs for restaurants are increased by litigation accusing them of causing obesity.[245] In 2005 the US Congress discussed legislation to prevent civil lawsuits against the food industry in relation to obesity; however, it did not become law.[245]
With the American Medical Association's 2013 classification of obesity as a chronic disease,[22] it is thought that health insurance companies will more likely pay for obesity treatment, counseling and surgery, and the cost of research and development of fat treatment pills or gene therapy treatments should be more affordable if insurers help to subsidize their cost.[246] The AMA classification is not legally binding, however, so health insurers still have the right to reject coverage for a treatment or procedure.[246]
In 2014, The European Court of Justice ruled that morbid obesity is a disability. The Court said that if an employee's obesity prevents him from "full and effective participation of that person in professional life on an equal basis with other workers", then it shall be considered a disability and that firing someone on such grounds is discriminatory.[247]
### Size acceptance
United States President William Howard Taft was often ridiculed for being overweight.
See also: Fat acceptance movement, Social stigma of obesity, Health at Every Size, and Fat fetishism
The principal goal of the fat acceptance movement is to decrease discrimination against people who are overweight and obese.[248][249] However, some in the movement are also attempting to challenge the established relationship between obesity and negative health outcomes.[250]
A number of organizations exist that promote the acceptance of obesity. They have increased in prominence in the latter half of the 20th century.[251] The US-based National Association to Advance Fat Acceptance (NAAFA) was formed in 1969 and describes itself as a civil rights organization dedicated to ending size discrimination.[252]
The International Size Acceptance Association (ISAA) is a non-governmental organization (NGO) which was founded in 1997. It has more of a global orientation and describes its mission as promoting size acceptance and helping to end weight-based discrimination.[253] These groups often argue for the recognition of obesity as a disability under the US Americans With Disabilities Act (ADA). The American legal system, however, has decided that the potential public health costs exceed the benefits of extending this anti-discrimination law to cover obesity.[250]
### Industry influence on research
In 2015 the New York Times published an article on the Global Energy Balance Network, a nonprofit founded in 2014 that advocated for people to focus on increasing exercise rather than reducing calorie intake to avoid obesity and to be healthy. The organization was founded with at least $1.5M in funding from the Coca-Cola Company, and the company has provided $4M in research funding to the two founding scientists Gregory A. Hand and Steven N. Blair since 2008.[254][255]
## Childhood obesity
Main article: Childhood obesity
The healthy BMI range varies with the age and sex of the child. Obesity in children and adolescents is defined as a BMI greater than the 95th percentile.[29] The reference data that these percentiles are based on is from 1963 to 1994 and thus has not been affected by the recent increases in rates of obesity.[30] Childhood obesity has reached epidemic proportions in the 21st century, with rising rates in both the developed and the developing world. Rates of obesity in Canadian boys have increased from 11% in the 1980s to over 30% in the 1990s, while during this same time period rates increased from 4 to 14% in Brazilian children.[256] In the UK, there were 60% more obese children in 2005 compared to 1989.[257] In the US, the percentage of overweight and obese children increased to 16% in 2008, a 300% increase over the prior 30 years.[258]
As with obesity in adults, many factors contribute to the rising rates of childhood obesity. Changing diet and decreasing physical activity are believed to be the two most important causes for the recent increase in the incidence of child obesity.[259] Antibiotics in the first 6 months of life have been associated with excess weight at age seven to twelve years of age.[158] Because childhood obesity often persists into adulthood and is associated with numerous chronic illnesses, children who are obese are often tested for hypertension, diabetes, hyperlipidemia, and fatty liver disease.[88] Treatments used in children are primarily lifestyle interventions and behavioral techniques, although efforts to increase activity in children have had little success.[260] In the United States, medications are not FDA approved for use in this age group.[256] Multi-component behaviour change interventions that include changes to dietary and physical activity may reduce BMI in the short term in children aged 6 to 11 years, although the benefits are small and quality of evidence is low.[261]
## Other animals
Main article: Obesity in pets
Obesity in pets is common in many countries. In the United States, 23–41% of dogs are overweight, and about 5.1% are obese.[262] The rate of obesity in cats was slightly higher at 6.4%.[262] In Australia the rate of obesity among dogs in a veterinary setting has been found to be 7.6%.[263] The risk of obesity in dogs is related to whether or not their owners are obese; however, there is no similar correlation between cats and their owners.[264]
## References
Informational notes
1. ^ Professor Nick Trefethen of the University of Oxford recommends an alternative formula which replaces the square of height with a power of 5/2 (along with appropriate recentering of other coefficients), as this is known to scale more accurately for short and tall individuals, an observation dating all the way to the Belgian scientist Adolphe Quetelet who first devised the body mass index, from his own writings in 1842.[8] The power of two was adopted instead for arithmetic convenience in an era that predated electronic calculators.[8] Additionally, European male populations have increased in average height by 10–15 cm (4–6 inches) since the middle of the 19th century,[9] increasing the fraction of the tall male population where the commonly accepted modern BMI distorts human allometry.
Citations
1. ^ a b c d e f g h i j k l "Obesity and overweight Fact sheet N°311". WHO. January 2015. Retrieved 2 February 2016.
2. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai Haslam DW, James WP (October 2005). "Obesity". Lancet (Review). 366 (9492): 1197–209. doi:10.1016/S0140-6736(05)67483-1. PMID 16198769. S2CID 208791491.
3. ^ a b Luppino FS, de Wit LM, Bouvy PF, Stijnen T, Cuijpers P, Penninx BW, Zitman FG (March 2010). "Overweight, obesity, and depression: a systematic review and meta-analysis of longitudinal studies". Archives of General Psychiatry. 67 (3): 220–9. doi:10.1001/archgenpsychiatry.2010.2. PMID 20194822.
4. ^ a b Yazdi FT, Clee SM, Meyre D (2015). "Obesity genetics in mouse and human: back and forth, and back again". PeerJ. 3: e856. doi:10.7717/peerj.856. PMC 4375971. PMID 25825681.
5. ^ a b c Yanovski SZ, Yanovski JA (January 2014). "Long-term drug treatment for obesity: a systematic and clinical review". JAMA (Review). 311 (1): 74–86. doi:10.1001/jama.2013.281361. PMC 3928674. PMID 24231879.
6. ^ a b c Colquitt JL, Pickett K, Loveman E, Frampton GK (August 2014). "Surgery for weight loss in adults". The Cochrane Database of Systematic Reviews (Meta-analysis, Review). 8 (8): CD003641. doi:10.1002/14651858.CD003641.pub4. PMID 25105982.
7. ^ a b Afshin A, Forouzanfar MH, Reitsma MB, Sur P, Estep K, Lee A, Marczak L, Mokdad AH, Moradi-Lakeh M, Naghavi M, Salama JS, Vos T, Abate KH, Abbafati C, Ahmed MB, Al-Aly Z, Alkerwi A, Al-Raddadi R, Amare AT, Amberbir A, Amegah AK, Amini E, Amrock SM, Anjana RM, Ärnlöv J, Asayesh H, Banerjee A, Barac A, Baye E, Bennett DA, Beyene AS, Biadgilign S, Biryukov S, Bjertness E, Boneya DJ, Campos-Nonato I, Carrero JJ, Cecilio P, Cercy K, Ciobanu LG, Cornaby L, Damtew SA, Dandona L, Dandona R, Dharmaratne SD, Duncan BB, Eshrati B, Esteghamati A, Feigin VL, Fernandes JC, Fürst T, Gebrehiwot TT, Gold A, Gona PN, Goto A, Habtewold TD, Hadush KT, Hafezi-Nejad N, Hay SI, Horino M, Islami F, Kamal R, Kasaeian A, Katikireddi SV, Kengne AP, Kesavachandran CN, Khader YS, Khang YH, Khubchandani J, Kim D, Kim YJ, Kinfu Y, Kosen S, Ku T, Defo BK, Kumar GA, Larson HJ, Leinsalu M, Liang X, Lim SS, Liu P, Lopez AD, Lozano R, Majeed A, Malekzadeh R, Malta DC, Mazidi M, McAlinden C, McGarvey ST, Mengistu DT, Mensah GA, Mensink GB, Mezgebe HB, Mirrakhimov EM, Mueller UO, Noubiap JJ, Obermeyer CM, Ogbo FA, Owolabi MO, Patton GC, Pourmalek F, Qorbani M, Rafay A, Rai RK, Ranabhat CL, Reinig N, Safiri S, Salomon JA, Sanabria JR, Santos IS, Sartorius B, Sawhney M, Schmidhuber J, Schutte AE, Schmidt MI, Sepanlou SG, Shamsizadeh M, Sheikhbahaei S, Shin MJ, Shiri R, Shiue I, Roba HS, Silva DA, Silverberg JI, Singh JA, Stranges S, Swaminathan S, Tabarés-Seisdedos R, Tadese F, Tedla BA, Tegegne BS, Terkawi AS, Thakur JS, Tonelli M, Topor-Madry R, Tyrovolas S, Ukwaja KN, Uthman OA, Vaezghasemi M, Vasankari T, Vlassov VV, Vollset SE, Weiderpass E, Werdecker A, Wesana J, Westerman R, Yano Y, Yonemoto N, Yonga G, Zaidi Z, Zenebe ZM, Zipkin B, Murray CJ (July 2017). "Health Effects of Overweight and Obesity in 195 Countries over 25 Years". The New England Journal of Medicine. 377 (1): 13–27. doi:10.1056/NEJMoa1614362. PMC 5477817. PMID 28604169.
8. ^ a b Trefethen, Nick (2013). "Calculate your new BMI". maths.ox.ac.uk. self-published faculty blog at Oxford University. Retrieved 29 October 2020. "As a consequence of this ill-founded definition, millions of short people think they are thinner than they are, and millions of tall people think they are fatter."
9. ^ Roser, Max; Appel, Cameron; Ritchie, Hannah (2013). "Human Height". ourworldindata.org. Global Change Data Lab. Retrieved 29 October 2020.
10. ^ a b Kanazawa M, Yoshiike N, Osaka T, Numba Y, Zimmet P, Inoue S (2005). "Criteria and Classification of Obesity in Japan and Asia-Oceania". Nutrition and Fitness: Obesity, the Metabolic Syndrome, Cardiovascular Disease, and Cancer. World Review of Nutrition and Dietetics. 94. pp. 1–12. doi:10.1159/000088200. ISBN 978-3-8055-7944-5. PMID 16145245. S2CID 19963495.
11. ^ a b Chiolero, Arnaud (1 October 2018). "Why causality, and not prediction, should guide obesity prevention policy". The Lancet Public Health. 3 (10): e461–e462. doi:10.1016/S2468-2667(18)30158-0. ISSN 2468-2667. PMID 30177480.
12. ^ Kassotis, Christopher D.; Vandenberg, Laura N.; Demeneix, Barbara A.; Porta, Miquel; Slama, Remy; Trasande, Leonardo (1 August 2020). "Endocrine-disrupting chemicals: economic, regulatory, and policy implications". The Lancet Diabetes & Endocrinology. 8 (8): 719–730. doi:10.1016/S2213-8587(20)30128-5. ISSN 2213-8587. PMC 7437819. PMID 32707119.
13. ^ a b Bleich S, Cutler D, Murray C, Adams A (2008). "Why is the developed world obese?". Annual Review of Public Health (Research Support). 29: 273–95. doi:10.1146/annurev.publhealth.29.020907.090954. PMID 18173389.
14. ^ a b c STROHACKER, KELLEY; CARPENTER, KATIE C.; MCFARLIN, BRIAN K. (15 July 2009). "Consequences of Weight Cycling: An Increase in Disease Risk?". International Journal of Exercise Science. 2 (3): 191–201. ISSN 1939-795X. PMC 4241770. PMID 25429313.
15. ^ Drewnowski, Adam; Darmon, Nicole (2005). "Food choices and diet costs: an economic analysis". The Journal of Nutrition. 135 (4): 900–904. doi:10.1093/jn/135.4.900. ISSN 0022-3166. PMID 15795456.
16. ^ Bridle-Fitzpatrick, Susan (2015). "Food deserts or food swamps?: A mixed-methods study of local food environments in a Mexican city". Social Science & Medicine (1982). 142: 202–213. doi:10.1016/j.socscimed.2015.08.010. ISSN 1873-5347. PMID 26318209.
17. ^ Imaz I, Martínez-Cervell C, García-Alvarez EE, Sendra-Gutiérrez JM, González-Enríquez J (July 2008). "Safety and effectiveness of the intragastric balloon for obesity. A meta-analysis". Obesity Surgery. 18 (7): 841–6. doi:10.1007/s11695-007-9331-8. PMID 18459025. S2CID 10220216.
18. ^ Encyclopedia of Mental Health (2 ed.). Academic Press. 2015. p. 158. ISBN 9780123977533.
19. ^ a b c d e Dibaise JK, Foxx-Orenstein AE (July 2013). "Role of the gastroenterologist in managing obesity". Expert Review of Gastroenterology & Hepatology (Review). 7 (5): 439–51. doi:10.1586/17474124.2013.811061. PMID 23899283. S2CID 26275773.
20. ^ a b c d e f Woodhouse R (2008). Obesity in art: a brief overview. Frontiers of Hormone Research. 36. pp. 271–86. doi:10.1159/000115370. ISBN 978-3-8055-8429-6. PMID 18230908.
21. ^ a b c d e f Jensen, MD; Ryan, DH; Apovian, CM; Ard, JD; Comuzzie, AG; Donato, KA; Hu, FB; Hubbard, VS; Jakicic, JM; Kushner, RF; Loria, CM; Millen, BE; Nonas, CA; Pi-Sunyer, FX; Stevens, J; Stevens, VJ; Wadden, TA; Wolfe, BM; Yanovski, SZ; Jordan, HS; Kendall, KA; Lux, LJ; Mentor-Marcel, R; Morgan, LC; Trisolini, MG; Wnek, J; Anderson, JL; Halperin, JL; Albert, NM; Bozkurt, B; Brindis, RG; Curtis, LH; DeMets, D; Hochman, JS; Kovacs, RJ; Ohman, EM; Pressler, SJ; Sellke, FW; Shen, WK; Smith SC, Jr; Tomaselli, GF; American College of Cardiology/American Heart Association Task Force on Practice, Guidelines.; Obesity, Society. (24 June 2014). "2013 AHA/ACC/TOS guideline for the management of overweight and obesity in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and The Obesity Society". Circulation. 129 (25 Suppl 2): S102-38. doi:10.1161/01.cir.0000437739.71477.ee. PMC 5819889. PMID 24222017. Lay summary.
22. ^ a b Pollack A (18 June 2013). "A.M.A. Recognizes Obesity as a Disease". New York Times. Archived from the original on 24 June 2013.
23. ^ Weinstock, Matthew (21 June 2013). "The Facts About Obesity". H&HN. American Hospital Association. Retrieved 24 June 2013.
24. ^ "BMI classification". World Health Organization. Retrieved 15 February 2014.
25. ^ WHO 2000 p.6
26. ^ Sweeting HN (October 2007). "Measurement and definitions of obesity in childhood and adolescence: a field guide for the uninitiated". Nutrition Journal. 6 (1): 32. doi:10.1186/1475-2891-6-32. PMC 2164947. PMID 17963490.
27. ^ NHLBI p.xiv
28. ^ Gray DS, Fujioka K (1991). "Use of relative weight and Body Mass Index for the determination of adiposity". Journal of Clinical Epidemiology. 44 (6): 545–50. doi:10.1016/0895-4356(91)90218-X. PMID 2037859.
29. ^ a b "Healthy Weight: Assessing Your Weight: BMI: About BMI for Children and Teens". Center for disease control and prevention. Retrieved 6 April 2009.
30. ^ a b Flegal KM, Ogden CL, Wei R, Kuczmarski RL, Johnson CL (June 2001). "Prevalence of overweight in US children: comparison of US growth charts from the Centers for Disease Control and Prevention with other reference values for body mass index". The American Journal of Clinical Nutrition. 73 (6): 1086–93. doi:10.1093/ajcn/73.6.1086. PMID 11382664.
31. ^ 1 (lb/sq in) is more precisely 703.06957964 (kg/m2).
32. ^ WHO 2000 p.9
33. ^ Nikcevic AV, Kuczmierczyk AR, Bruch M (2009). Formulation and Treatment in Clinical Health Psychology. Routledge. ISBN 9781135452087.
34. ^ a b Bei-Fan Z (December 2002). "Predictive values of body mass index and waist circumference for risk factors of certain related diseases in Chinese adults: study on optimal cut-off points of body mass index and waist circumference in Chinese adults". Asia Pac J Clin Nutr. 11 (Suppl 8): S685–93. doi:10.1046/j.1440-6047.11.s8.9.x.; Originally printed as Zhou BF (March 2002). "Predictive values of body mass index and waist circumference for risk factors of certain related diseases in Chinese adults--study on optimal cut-off points of body mass index and waist circumference in Chinese adults". Biomedical and Environmental Sciences. 15 (1): 83–96. PMID 12046553.
35. ^ a b Sturm R (July 2007). "Increases in morbid obesity in the USA: 2000–2005". Public Health. 121 (7): 492–6. doi:10.1016/j.puhe.2007.01.006. PMC 2864630. PMID 17399752.
36. ^ a b c d Poulain M, Doucet M, Major GC, Drapeau V, Sériès F, Boulet LP, Tremblay A, Maltais F (April 2006). "The effect of obesity on chronic respiratory diseases: pathophysiology and therapeutic strategies". CMAJ. 174 (9): 1293–9. doi:10.1503/cmaj.051299. PMC 1435949. PMID 16636330.
37. ^ Berrington de Gonzalez, A; Hartge, P; Cerhan, JR; Flint, AJ; Hannan, L; MacInnis, RJ; Moore, SC; Tobias, GS; Anton-Culver, H; Freeman, LB; Beeson, WL; Clipp, SL; English, DR; Folsom, AR; Freedman, DM; Giles, G; Hakansson, N; Henderson, KD; Hoffman-Bolton, J; Hoppin, JA; Koenig, KL; Lee, IM; Linet, MS; Park, Y; Pocobelli, G; Schatzkin, A; Sesso, HD; Weiderpass, E; Willcox, BJ; Wolk, A; Zeleniuch-Jacquotte, A; Willett, WC; Thun, MJ (2 December 2010). "Body-mass index and mortality among 1.46 million white adults". The New England Journal of Medicine. 363 (23): 2211–9. doi:10.1056/NEJMoa1000367. PMC 3066051. PMID 21121834.:Supp.Table3
38. ^ Barness LA, Opitz JM, Gilbert-Barness E (December 2007). "Obesity: genetic, molecular, and environmental aspects". American Journal of Medical Genetics. Part A. 143A (24): 3016–34. doi:10.1002/ajmg.a.32035. PMID 18000969. S2CID 7205587.
39. ^ Mokdad AH, Marks JS, Stroup DF, Gerberding JL (March 2004). "Actual causes of death in the United States, 2000". JAMA. 291 (10): 1238–45. doi:10.1001/jama.291.10.1238. PMID 15010446. S2CID 14589790.
40. ^ a b Allison DB, Fontaine KR, Manson JE, Stevens J, VanItallie TB (October 1999). "Annual deaths attributable to obesity in the United States". JAMA. 282 (16): 1530–8. doi:10.1001/jama.282.16.1530. PMID 10546692.
41. ^ Aune D, Sen A, Prasad M, Norat T, Janszky I, Tonstad S, Romundstad P, Vatten LJ (May 2016). "BMI and all cause mortality: systematic review and non-linear dose-response meta-analysis of 230 cohort studies with 3.74 million deaths among 30.3 million participants". BMJ. 353: i2156. doi:10.1136/bmj.i2156. PMC 4856854. PMID 27146380.
42. ^ a b c Whitlock G, Lewington S, Sherliker P, Clarke R, Emberson J, Halsey J, Qizilbash N, Collins R, Peto R (March 2009). "Body-mass index and cause-specific mortality in 900 000 adults: collaborative analyses of 57 prospective studies". Lancet. 373 (9669): 1083–96. doi:10.1016/S0140-6736(09)60318-4. PMC 2662372. PMID 19299006.
43. ^ a b Di Angelantonio E, Bhupathiraju S, Wormser D, Gao P, Kaptoge S, Berrington de Gonzalez A, et al. (The Global BMI Mortality Collaboration) (August 2016). "Body-mass index and all-cause mortality: individual-participant-data meta-analysis of 239 prospective studies in four continents". Lancet. 388 (10046): 776–86. doi:10.1016/S0140-6736(16)30175-1. PMC 4995441. PMID 27423262.
44. ^ Calle EE, Thun MJ, Petrelli JM, Rodriguez C, Heath CW (October 1999). "Body-mass index and mortality in a prospective cohort of U.S. adults". The New England Journal of Medicine. 341 (15): 1097–105. doi:10.1056/NEJM199910073411501. PMID 10511607.
45. ^ Pischon T, Boeing H, Hoffmann K, Bergmann M, Schulze MB, Overvad K, van der Schouw YT, Spencer E, Moons KG, Tjønneland A, Halkjaer J, Jensen MK, Stegger J, Clavel-Chapelon F, Boutron-Ruault MC, Chajes V, Linseisen J, Kaaks R, Trichopoulou A, Trichopoulos D, Bamia C, Sieri S, Palli D, Tumino R, Vineis P, Panico S, Peeters PH, May AM, Bueno-de-Mesquita HB, van Duijnhoven FJ, Hallmans G, Weinehall L, Manjer J, Hedblad B, Lund E, Agudo A, Arriola L, Barricarte A, Navarro C, Martinez C, Quirós JR, Key T, Bingham S, Khaw KT, Boffetta P, Jenab M, Ferrari P, Riboli E (November 2008). "General and abdominal adiposity and risk of death in Europe". The New England Journal of Medicine. 359 (20): 2105–20. doi:10.1056/NEJMoa0801891. PMID 19005195. S2CID 23967973.
46. ^ Flegal KM, Kit BK, Orpana H, Graubard BI (January 2013). "Association of all-cause mortality with overweight and obesity using standard body mass index categories: a systematic review and meta-analysis". JAMA. 309 (1): 71–82. doi:10.1001/jama.2012.113905. PMC 4855514. PMID 23280227.
47. ^ Carmienke S, Freitag MH, Pischon T, Schlattmann P, Fankhaenel T, Goebel H, Gensichen J (June 2013). "General and abdominal obesity parameters and their combination in relation to mortality: a systematic review and meta-regression analysis". European Journal of Clinical Nutrition. 67 (6): 573–85. doi:10.1038/ejcn.2013.61. PMID 23511854.
48. ^ WHO Expert Consultation (January 2004). "Appropriate body-mass index for Asian populations and its implications for policy and intervention strategies". Lancet. 363 (9403): 157–63. doi:10.1016/s0140-6736(03)15268-3. PMID 14726171. S2CID 15637224.
49. ^ Manson JE, Willett WC, Stampfer MJ, Colditz GA, Hunter DJ, Hankinson SE, Hennekens CH, Speizer FE (September 1995). "Body weight and mortality among women". The New England Journal of Medicine. 333 (11): 677–85. doi:10.1056/NEJM199509143331101. PMID 7637744.
50. ^ a b Tsigos C, Hainer V, Basdevant A, Finer N, Fried M, Mathus-Vliegen E, Micic D, Maislos M, Roman G, Schutz Y, Toplak H, Zahorska-Markiewicz B (April 2008). "Management of obesity in adults: European clinical practice guidelines" (PDF). Obesity Facts. 1 (2): 106–16. doi:10.1159/000126822. PMC 6452117. PMID 20054170. Archived from the original (PDF) on 26 April 2012.
51. ^ Fried M, Hainer V, Basdevant A, Buchwald H, Deitel M, Finer N, Greve JW, Horber F, Mathus-Vliegen E, Scopinaro N, Steffen R, Tsigos C, Weiner R, Widhalm K (April 2007). "Inter-disciplinary European guidelines on surgery of severe obesity". International Journal of Obesity. 31 (4): 569–77. doi:10.1038/sj.ijo.0803560. PMID 17325689. S2CID 23482899.
52. ^ Peeters A, Barendregt JJ, Willekens F, Mackenbach JP, Al Mamun A, Bonneux L (January 2003). "Obesity in adulthood and its consequences for life expectancy: a life-table analysis" (PDF). Annals of Internal Medicine. 138 (1): 24–32. doi:10.7326/0003-4819-138-1-200301070-00008. hdl:1765/10043. PMID 12513041. S2CID 8120329.
53. ^ Grundy SM (June 2004). "Obesity, metabolic syndrome, and cardiovascular disease". The Journal of Clinical Endocrinology and Metabolism. 89 (6): 2595–600. doi:10.1210/jc.2004-0372. PMID 15181029.
54. ^ Seidell 2005 p.9
55. ^ a b Bray GA (June 2004). "Medical consequences of obesity". The Journal of Clinical Endocrinology and Metabolism. 89 (6): 2583–9. doi:10.1210/jc.2004-0535. PMID 15181027.
56. ^ Shoelson SE, Herrero L, Naaz A (May 2007). "Obesity, inflammation, and insulin resistance". Gastroenterology. 132 (6): 2169–80. doi:10.1053/j.gastro.2007.03.059. PMID 17498510.
57. ^ Shoelson SE, Lee J, Goldfine AB (July 2006). "Inflammation and insulin resistance". The Journal of Clinical Investigation. 116 (7): 1793–801. doi:10.1172/JCI29069. PMC 1483173. PMID 16823477.
58. ^ Dentali F, Squizzato A, Ageno W (July 2009). "The metabolic syndrome as a risk factor for venous and arterial thrombosis". Seminars in Thrombosis and Hemostasis. 35 (5): 451–7. doi:10.1055/s-0029-1234140. PMID 19739035.
59. ^ "People with Certain Medical Conditions". Centers For Diseases Control and Prevention. 30 July 2020. Retrieved 2 August 2020.
60. ^ Lu Y, Hajifathalian K, Ezzati M, Woodward M, Rimm EB, Danaei G (March 2014). "Metabolic mediators of the effects of body-mass index, overweight, and obesity on coronary heart disease and stroke: a pooled analysis of 97 prospective cohorts with 1·8 million participants". Lancet. 383 (9921): 970–83. doi:10.1016/S0140-6736(13)61836-X. PMC 3959199. PMID 24269108.
61. ^ Aune D, Sen A, Norat T, Janszky I, Romundstad P, Tonstad S, Vatten LJ (February 2016). "Body Mass Index, Abdominal Fatness, and Heart Failure Incidence and Mortality: A Systematic Review and Dose-Response Meta-Analysis of Prospective Studies". Circulation. 133 (7): 639–49. doi:10.1161/CIRCULATIONAHA.115.016801. PMID 26746176. S2CID 115876581.
62. ^ Darvall KA, Sam RC, Silverman SH, Bradbury AW, Adam DJ (February 2007). "Obesity and thrombosis". European Journal of Vascular and Endovascular Surgery. 33 (2): 223–33. doi:10.1016/j.ejvs.2006.10.006. PMID 17185009.
63. ^ a b c d e Yosipovitch G, DeVore A, Dawn A (June 2007). "Obesity and the skin: skin physiology and skin manifestations of obesity". Journal of the American Academy of Dermatology. 56 (6): 901–16, quiz 917–20. doi:10.1016/j.jaad.2006.12.004. PMID 17504714.
64. ^ Hahler B (June 2006). "An overview of dermatological conditions commonly associated with the obese patient". Ostomy/Wound Management. 52 (6): 34–6, 38, 40 passim. PMID 16799182.
65. ^ a b c Arendas K, Qiu Q, Gruslin A (June 2008). "Obesity in pregnancy: pre-conceptional to postpartum consequences". Journal of Obstetrics and Gynaecology Canada. 30 (6): 477–488. doi:10.1016/s1701-2163(16)32863-8. PMID 18611299.
66. ^ Harney D, Patijn J (2007). "Meralgia paresthetica: diagnosis and management strategies". Pain Medicine (Review). 8 (8): 669–77. doi:10.1111/j.1526-4637.2006.00227.x. PMID 18028045.
67. ^ Bigal ME, Lipton RB (January 2008). "Obesity and chronic daily headache". Current Pain and Headache Reports (Review). 12 (1): 56–61. doi:10.1007/s11916-008-0011-8. PMID 18417025. S2CID 23729708.
68. ^ Sharifi-Mollayousefi A, Yazdchi-Marandi M, Ayramlou H, Heidari P, Salavati A, Zarrintan S, Sharifi-Mollayousefi A (February 2008). "Assessment of body mass index and hand anthropometric measurements as independent risk factors for carpal tunnel syndrome". Folia Morphologica. 67 (1): 36–42. PMID 18335412.
69. ^ Beydoun MA, Beydoun HA, Wang Y (May 2008). "Obesity and central obesity as risk factors for incident dementia and its subtypes: a systematic review and meta-analysis". Obesity Reviews (Meta-analysis). 9 (3): 204–18. doi:10.1111/j.1467-789X.2008.00473.x. PMC 4887143. PMID 18331422.
70. ^ Wall M (March 2008). "Idiopathic intracranial hypertension (pseudotumor cerebri)". Current Neurology and Neuroscience Reports (Review). 8 (2): 87–93. doi:10.1007/s11910-008-0015-0. PMID 18460275. S2CID 17285706.
71. ^ Munger KL, Chitnis T, Ascherio A (November 2009). "Body size and risk of MS in two cohorts of US women". Neurology (Comparative Study). 73 (19): 1543–50. doi:10.1212/WNL.0b013e3181c0d6e0. PMC 2777074. PMID 19901245.
72. ^ Basen-Engquist K, Chang M (February 2011). "Obesity and cancer risk: recent review and evidence". Current Oncology Reports. 13 (1): 71–6. doi:10.1007/s11912-010-0139-7. PMC 3786180. PMID 21080117.
73. ^ Aune D, Norat T, Vatten LJ (December 2014). "Body mass index and the risk of gout: a systematic review and dose-response meta-analysis of prospective studies". European Journal of Nutrition. 53 (8): 1591–601. doi:10.1007/s00394-014-0766-0. PMID 25209031. S2CID 38095938.
74. ^ Tukker A, Visscher TL, Picavet HS (March 2009). "Overweight and health problems of the lower extremities: osteoarthritis, pain and disability". Public Health Nutrition (Research Support). 12 (3): 359–68. doi:10.1017/S1368980008002103. PMID 18426630.
75. ^ Molenaar EA, Numans ME, van Ameijden EJ, Grobbee DE (November 2008). "[Considerable comorbidity in overweight adults: results from the Utrecht Health Project]". Nederlands Tijdschrift voor Geneeskunde (English abstract) (in Dutch). 152 (45): 2457–63. PMID 19051798.
76. ^ Corona G, Rastrelli G, Filippi S, Vignozzi L, Mannucci E, Maggi M (2014). "Erectile dysfunction and central obesity: an Italian perspective". Asian Journal of Andrology. 16 (4): 581–91. doi:10.4103/1008-682X.126386. PMC 4104087. PMID 24713832.
77. ^ Hunskaar S (2008). "A systematic review of overweight and obesity as risk factors and targets for clinical intervention for urinary incontinence in women". Neurourology and Urodynamics (Review). 27 (8): 749–57. doi:10.1002/nau.20635. PMID 18951445. S2CID 20378183.
78. ^ Ejerblad E, Fored CM, Lindblad P, Fryzek J, McLaughlin JK, Nyrén O (June 2006). "Obesity and risk for chronic renal failure". Journal of the American Society of Nephrology (Research Support). 17 (6): 1695–702. doi:10.1681/ASN.2005060638. PMID 16641153.
79. ^ Makhsida N, Shah J, Yan G, Fisch H, Shabsigh R (September 2005). "Hypogonadism and metabolic syndrome: implications for testosterone therapy". The Journal of Urology (Review). 174 (3): 827–34. CiteSeerX 10.1.1.612.1060. doi:10.1097/01.ju.0000169490.78443.59. PMID 16093964.
80. ^ Pestana IA, Greenfield JM, Walsh M, Donatucci CF, Erdmann D (October 2009). "Management of "buried" penis in adulthood: an overview". Plastic and Reconstructive Surgery (Review). 124 (4): 1186–95. doi:10.1097/PRS.0b013e3181b5a37f. PMID 19935302. S2CID 36775257.
81. ^ a b Schmidt DS, Salahudeen AK (2007). "Obesity-survival paradox-still a controversy?". Seminars in Dialysis (Review). 20 (6): 486–92. doi:10.1111/j.1525-139X.2007.00349.x. PMID 17991192. S2CID 37354831.
82. ^ a b U.S. Preventive Services Task Force (June 2003). "Behavioral counseling in primary care to promote a healthy diet: recommendations and rationale". American Family Physician (Review). 67 (12): 2573–6. PMID 12825847.
83. ^ Habbu A, Lakkis NM, Dokainish H (October 2006). "The obesity paradox: fact or fiction?". The American Journal of Cardiology (Review). 98 (7): 944–8. doi:10.1016/j.amjcard.2006.04.039. PMID 16996880.
84. ^ Romero-Corral A, Montori VM, Somers VK, Korinek J, Thomas RJ, Allison TG, Mookadam F, Lopez-Jimenez F (August 2006). "Association of bodyweight with total mortality and with cardiovascular events in coronary artery disease: a systematic review of cohort studies". Lancet (Review). 368 (9536): 666–78. doi:10.1016/S0140-6736(06)69251-9. PMID 16920472. S2CID 23306195.
85. ^ Oreopoulos A, Padwal R, Kalantar-Zadeh K, Fonarow GC, Norris CM, McAlister FA (July 2008). "Body mass index and mortality in heart failure: a meta-analysis". American Heart Journal (Meta-analysis, Review). 156 (1): 13–22. doi:10.1016/j.ahj.2008.02.014. PMID 18585492.
86. ^ Oreopoulos A, Padwal R, Norris CM, Mullen JC, Pretorius V, Kalantar-Zadeh K (February 2008). "Effect of obesity on short- and long-term mortality postcoronary revascularization: a meta-analysis". Obesity (Meta-analysis). 16 (2): 442–50. doi:10.1038/oby.2007.36. PMID 18239657. S2CID 205524756.
87. ^ Diercks DB, Roe MT, Mulgund J, Pollack CV, Kirk JD, Gibler WB, Ohman EM, Smith SC, Boden WE, Peterson ED (July 2006). "The obesity paradox in non-ST-segment elevation acute coronary syndromes: results from the Can Rapid risk stratification of Unstable angina patients Suppress ADverse outcomes with Early implementation of the American College of Cardiology/American Heart Association Guidelines Quality Improvement Initiative". American Heart Journal (Research Support). 152 (1): 140–8. doi:10.1016/j.ahj.2005.09.024. PMID 16824844.
88. ^ a b c d e Lau DC, Douketis JD, Morrison KM, Hramiak IM, Sharma AM, Ur E (April 2007). "2006 Canadian clinical practice guidelines on the management and prevention of obesity in adults and children [summary]". CMAJ (Practice Guideline, Review). 176 (8): S1–13. doi:10.1503/cmaj.061409. PMC 1839777. PMID 17420481.
89. ^ Drewnowski A, Specter SE (January 2004). "Poverty and obesity: the role of energy density and energy costs". The American Journal of Clinical Nutrition (Review). 79 (1): 6–16. doi:10.1093/ajcn/79.1.6. PMID 14684391.
90. ^ Nestle M, Jacobson MF (2000). "Halting the obesity epidemic: a public health policy approach". Public Health Reports (Research Support). 115 (1): 12–24. doi:10.1093/phr/115.1.12. PMC 1308552. PMID 10968581.
91. ^ James WP (March 2008). "The fundamental drivers of the obesity epidemic". Obesity Reviews (Review). 9 Suppl 1 (Suppl 1): 6–13. doi:10.1111/j.1467-789X.2007.00432.x. PMID 18307693. S2CID 19894128.
92. ^ Keith SW, Redden DT, Katzmarzyk PT, Boggiano MM, Hanlon EC, Benca RM, Ruden D, Pietrobelli A, Barger JL, Fontaine KR, Wang C, Aronne LJ, Wright SM, Baskin M, Dhurandhar NV, Lijoi MC, Grilo CM, DeLuca M, Westfall AO, Allison DB (November 2006). "Putative contributors to the secular increase in obesity: exploring the roads less traveled". International Journal of Obesity (Review). 30 (11): 1585–94. doi:10.1038/sj.ijo.0803326. PMID 16801930.
93. ^ Schwartz, MW; Seeley, RJ; Zeltser, LM; Drewnowski, A; Ravussin, E; Redman, LM; Leibel, RL (1 August 2017). "Obesity Pathogenesis: An Endocrine Society Scientific Statement". Endocrine Reviews (Professional society guidelines). 38 (4): 267–296. doi:10.1210/er.2017-00111. PMC 5546881. PMID 28898979.
94. ^ a b c d e f "EarthTrends: Nutrition: Calorie supply per capita". World Resources Institute. Archived from the original on 11 June 2011. Retrieved 18 October 2009.
95. ^ Bojanowska E, Ciosek J (15 February 2016). "Can We Selectively Reduce Appetite for Energy-Dense Foods? An Overview of Pharmacological Strategies for Modification of Food Preference Behavior". Current Neuropharmacology. 14 (2): 118–42. doi:10.2174/1570159X14666151109103147. PMC 4825944. PMID 26549651.
96. ^ Levitsky, DA; Sewall, A; Zhong, Y; Barre, L; Shoen, S; Agaronnik, N; LeClair, JL; Zhuo, W; Pacanowski, C (1 February 2019). "Quantifying the imprecision of energy intake of humans to compensate for imposed energetic errors: A challenge to the physiological control of human food intake". Appetite. 133: 337–343. doi:10.1016/j.appet.2018.11.017. PMID 30476522. S2CID 53712116.
97. ^ "USDA: frsept99b". United States Department of Agriculture. Archived from the original on 3 June 2010. Retrieved 10 January 2009.
98. ^ "Diet composition and obesity among Canadian adults". Statistics Canada.
99. ^ National Control for Health Statistics. "Nutrition For Everyone". Centers for Disease Control and Prevention. Retrieved 9 July 2008.
100. ^ Marantz PR, Bird ED, Alderman MH (March 2008). "A call for higher standards of evidence for dietary guidelines". American Journal of Preventive Medicine. 34 (3): 234–40. doi:10.1016/j.amepre.2007.11.017. PMID 18312812.
101. ^ Flegal KM, Carroll MD, Ogden CL, Johnson CL (October 2002). "Prevalence and trends in obesity among US adults, 1999–2000". JAMA. 288 (14): 1723–7. doi:10.1001/jama.288.14.1723. PMID 12365955.
102. ^ Centers for Disease Control Prevention (CDC) (February 2004). "Trends in intake of energy and macronutrients—United States, 1971–2000". MMWR. Morbidity and Mortality Weekly Report. 53 (4): 80–2. PMID 14762332.
103. ^ a b c d e f Caballero B (2007). "The global epidemic of obesity: an overview". Epidemiologic Reviews. 29: 1–5. doi:10.1093/epirev/mxm012. PMID 17569676.
104. ^ Mozaffarian D, Hao T, Rimm EB, Willett WC, Hu FB (June 2011). "Changes in diet and lifestyle and long-term weight gain in women and men". The New England Journal of Medicine (Meta-analysis). 364 (25): 2392–404. doi:10.1056/NEJMoa1014296. PMC 3151731. PMID 21696306.
105. ^ Malik VS, Schulze MB, Hu FB (August 2006). "Intake of sugar-sweetened beverages and weight gain: a systematic review". The American Journal of Clinical Nutrition (Review). 84 (2): 274–88. doi:10.1093/ajcn/84.2.274. PMC 3210834. PMID 16895873.
106. ^ Olsen NJ, Heitmann BL (January 2009). "Intake of calorically sweetened beverages and obesity". Obesity Reviews (Review). 10 (1): 68–75. doi:10.1111/j.1467-789X.2008.00523.x. PMID 18764885. S2CID 28672221.
107. ^ Malik VS, Popkin BM, Bray GA, Després JP, Willett WC, Hu FB (November 2010). "Sugar-sweetened beverages and risk of metabolic syndrome and type 2 diabetes: a meta-analysis". Diabetes Care (Meta-analysis, Review). 33 (11): 2477–83. doi:10.2337/dc10-1079. PMC 2963518. PMID 20693348.
108. ^ Wamberg L, Pedersen SB, Rejnmark L, Richelsen B (December 2015). "Causes of Vitamin D Deficiency and Effect of Vitamin D Supplementation on Metabolic Complications in Obesity: a Review". Current Obesity Reports. 4 (4): 429–40. doi:10.1007/s13679-015-0176-5. PMID 26353882. S2CID 809587.
109. ^ Rosenheck R (November 2008). "Fast food consumption and increased caloric intake: a systematic review of a trajectory towards weight gain and obesity risk". Obesity Reviews (Review). 9 (6): 535–47. doi:10.1111/j.1467-789X.2008.00477.x. PMID 18346099. S2CID 25820487.
110. ^ Lin BH, Guthrie J, Frazao E (1999). "Nutrient contribution of food away from home". In Frazão E (ed.). Agriculture Information Bulletin No. 750: America's Eating Habits: Changes and Consequences. Washington, DC: US Department of Agriculture, Economic Research Service. pp. 213–39. Archived from the original on 8 July 2012.
111. ^ Pollan, Michael (22 April 2007). "You Are What You Grow". New York Times. Retrieved 30 July 2007.
112. ^ Kopelman and Caterson 2005:324.
113. ^ Metabolism alone doesn't explain how thin people stay thin. John Schieszer. The Medical Post.
114. ^ Seidell 2005 p. 10
115. ^ a b "Obesity and overweight". World Health Organization. Archived from the original on 18 December 2008. Retrieved 10 January 2009.
116. ^ a b c "WHO | Physical Inactivity: A Global Public Health Problem". World Health Organization. Retrieved 22 February 2009.
117. ^ a b Ness-Abramof R, Apovian CM (February 2006). "Diet modification for treatment and prevention of obesity". Endocrine (Review). 29 (1): 5–9. doi:10.1385/ENDO:29:1:135. PMID 16622287. S2CID 31964889.
118. ^ Salmon J, Timperio A (2007). "Prevalence, Trends and Environmental Influences on Child and Youth Physical Activity". Pediatric Fitness (Review). Medicine and Sport Science. 50. pp. 183–99. doi:10.1159/000101391. ISBN 978-3-318-01396-2. PMID 17387258.
119. ^ Borodulin K, Laatikainen T, Juolevi A, Jousilahti P (June 2008). "Thirty-year trends of physical activity in relation to age, calendar time and birth cohort in Finnish adults". European Journal of Public Health (Research Support). 18 (3): 339–44. doi:10.1093/eurpub/ckm092. PMID 17875578.
120. ^ Brownson RC, Boehmer TK, Luke DA (2005). "Declining rates of physical activity in the United States: what are the contributors?". Annual Review of Public Health (Review). 26: 421–43. doi:10.1146/annurev.publhealth.26.021304.144437. PMID 15760296.
121. ^ Wilks DC, Sharp SJ, Ekelund U, Thompson SG, Mander AP, Turner RM, Jebb SA, Lindroos AK (February 2011). "Objectively measured physical activity and fat mass in children: a bias-adjusted meta-analysis of prospective studies". PLOS ONE. 6 (2): e17205. Bibcode:2011PLoSO...617205W. doi:10.1371/journal.pone.0017205. PMC 3044163. PMID 21383837.
122. ^ Gortmaker SL, Must A, Sobol AM, Peterson K, Colditz GA, Dietz WH (April 1996). "Television viewing as a cause of increasing obesity among children in the United States, 1986–1990". Archives of Pediatrics & Adolescent Medicine (Review). 150 (4): 356–62. doi:10.1001/archpedi.1996.02170290022003. PMID 8634729.
123. ^ Vioque J, Torres A, Quiles J (December 2000). "Time spent watching television, sleep duration and obesity in adults living in Valencia, Spain". International Journal of Obesity and Related Metabolic Disorders (Research Support). 24 (12): 1683–8. doi:10.1038/sj.ijo.0801434. PMID 11126224.
124. ^ Tucker LA, Bagwell M (July 1991). "Television viewing and obesity in adult females". American Journal of Public Health. 81 (7): 908–11. doi:10.2105/AJPH.81.7.908. PMC 1405200. PMID 2053671.
125. ^ Emanuel EJ (2008). "Media + Child and Adolescent Health: A Systematic Review" (PDF). Common Sense Media. Retrieved 6 April 2009.
126. ^ Mary Jones. "Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of Narcolepsy in a Five Year Old?". European Society of Sleep Technologists. Archived from the original on 13 April 2009. Retrieved 6 April 2009.
127. ^ Albuquerque D, Nóbrega C, Manco L, Padez C (September 2017). "The contribution of genetics and environment to obesity". British Medical Bulletin. 123 (1): 159–173. doi:10.1093/bmb/ldx022. PMID 28910990.
128. ^ Poirier P, Giles TD, Bray GA, Hong Y, Stern JS, Pi-Sunyer FX, Eckel RH (May 2006). "Obesity and cardiovascular disease: pathophysiology, evaluation, and effect of weight loss". Arteriosclerosis, Thrombosis, and Vascular Biology (Review). 26 (5): 968–76. CiteSeerX 10.1.1.508.7066. doi:10.1161/01.ATV.0000216787.85457.f3. PMID 16627822. S2CID 6052584.
129. ^ Loos RJ, Bouchard C (May 2008). "FTO: the first gene contributing to common forms of human obesity". Obesity Reviews (Review). 9 (3): 246–50. doi:10.1111/j.1467-789X.2008.00481.x. PMID 18373508. S2CID 23487924.
130. ^ Yang W, Kelly T, He J (2007). "Genetic epidemiology of obesity". Epidemiologic Reviews (Review). 29: 49–61. doi:10.1093/epirev/mxm004. PMID 17566051.
131. ^ Walley AJ, Asher JE, Froguel P (July 2009). "The genetic contribution to non-syndromic human obesity". Nature Reviews. Genetics (Review). 10 (7): 431–42. doi:10.1038/nrg2594. PMID 19506576. S2CID 10870369.
132. ^ Farooqi S, O'Rahilly S (December 2006). "Genetics of obesity in humans". Endocrine Reviews (Review). 27 (7): 710–18. doi:10.1210/er.2006-0040. PMID 17122358.
133. ^ Kolata, Gina (2007). Rethinking thin: The new science of weight loss – and the myths and realities of dieting. Picador. p. 122. ISBN 978-0-312-42785-6.
134. ^ Walley AJ, Asher JE, Froguel P (July 2009). "The genetic contribution to non-syndromic human obesity". Nature Reviews. Genetics (Review). 10 (7): 431–42. doi:10.1038/nrg2594. PMID 19506576. S2CID 10870369. "However, it is also clear that genetics greatly influences this situation, giving individuals in the same 'obesogenic' environment significantly different risks of becoming obese."
135. ^ Chakravarthy MV, Booth FW (January 2004). "Eating, exercise, and "thrifty" genotypes: connecting the dots toward an evolutionary understanding of modern chronic diseases". Journal of Applied Physiology (Review). 96 (1): 3–10. doi:10.1152/japplphysiol.00757.2003. PMID 14660491. S2CID 5817629.
136. ^ Wells JC (December 2009). "Thrift: a guide to thrifty genes, thrifty phenotypes and thrifty norms". International Journal of Obesity (Review). 33 (12): 1331–8. doi:10.1038/ijo.2009.175. PMID 19752875.
137. ^ Wells JC (2011). "The thrifty phenotype: An adaptation in growth or metabolism?". American Journal of Human Biology (Review). 23 (1): 65–75. doi:10.1002/ajhb.21100. PMID 21082685. S2CID 20466835.
138. ^ Rosén T, Bosaeus I, Tölli J, Lindstedt G, Bengtsson BA (January 1993). "Increased body fat mass and decreased extracellular fluid volume in adults with growth hormone deficiency". Clinical Endocrinology. 38 (1): 63–71. doi:10.1111/j.1365-2265.1993.tb00974.x. PMID 8435887. S2CID 25725625.
139. ^ Zametkin AJ, Zoon CK, Klein HW, Munson S (February 2004). "Psychiatric aspects of child and adolescent obesity: a review of the past 10 years". Journal of the American Academy of Child and Adolescent Psychiatry (Review). 43 (2): 134–50. doi:10.1097/00004583-200402000-00008. PMID 14726719.
140. ^ Chiles C, van Wattum PJ (2010). "Psychiatric aspects of the obesity crisis". Psychiatr Times. 27 (4): 47–51.
141. ^ Yach D, Stuckler D, Brownell KD (January 2006). "Epidemiologic and economic consequences of the global epidemics of obesity and diabetes". Nature Medicine. 12 (1): 62–6. doi:10.1038/nm0106-62. PMID 16397571. S2CID 37456911.
142. ^ Sobal J, Stunkard AJ (March 1989). "Socioeconomic status and obesity: a review of the literature". Psychological Bulletin (Review). 105 (2): 260–75. doi:10.1037/0033-2909.105.2.260. PMID 2648443.
143. ^ a b McLaren L (2007). "Socioeconomic status and obesity". Epidemiologic Reviews (Review). 29: 29–48. doi:10.1093/epirev/mxm001. PMID 17478442.
144. ^ a b Wilkinson R, Pickett K (2009). The Spirit Level: Why More Equal Societies Almost Always Do Better. London: Allen Lane. pp. 91–101. ISBN 978-1-84614-039-6.
145. ^ Christakis NA, Fowler JH (July 2007). "The spread of obesity in a large social network over 32 years". The New England Journal of Medicine (Research Support). 357 (4): 370–9. CiteSeerX 10.1.1.581.4893. doi:10.1056/NEJMsa066082. PMID 17652652.
146. ^ Björntorp P (May 2001). "Do stress reactions cause abdominal obesity and comorbidities?". Obesity Reviews. 2 (2): 73–86. doi:10.1046/j.1467-789x.2001.00027.x. PMID 12119665. S2CID 23665421.
147. ^ Goodman E, Adler NE, Daniels SR, Morrison JA, Slap GB, Dolan LM (August 2003). "Impact of objective and subjective social status on obesity in a biracial cohort of adolescents". Obesity Research (Research Support). 11 (8): 1018–26. doi:10.1038/oby.2003.140. PMID 12917508.
148. ^ Flegal KM, Troiano RP, Pamuk ER, Kuczmarski RJ, Campbell SM (November 1995). "The influence of smoking cessation on the prevalence of overweight in the United States". The New England Journal of Medicine. 333 (18): 1165–70. doi:10.1056/NEJM199511023331801. PMID 7565970.
149. ^ Chiolero A, Faeh D, Paccaud F, Cornuz J (April 2008). "Consequences of smoking for body weight, body fat distribution, and insulin resistance". The American Journal of Clinical Nutrition (Review). 87 (4): 801–9. doi:10.1093/ajcn/87.4.801. PMID 18400700.
150. ^ Weng HH, Bastian LA, Taylor DH, Moser BK, Ostbye T (2004). "Number of children associated with obesity in middle-aged women and men: results from the health and retirement study". Journal of Women's Health (Comparative Study). 13 (1): 85–91. doi:10.1089/154099904322836492. PMID 15006281.
151. ^ Bellows-Riecken KH, Rhodes RE (February 2008). "A birth of inactivity? A review of physical activity and parenthood". Preventive Medicine (Review). 46 (2): 99–110. doi:10.1016/j.ypmed.2007.08.003. PMID 17919713.
152. ^ "Obesity and Overweight" (PDF). World Health Organization. Retrieved 22 February 2009.
153. ^ a b Caballero B (March 2001). "Introduction. Symposium: Obesity in developing countries: biological and ecological factors". The Journal of Nutrition (Review). 131 (3): 866S–870S. doi:10.1093/jn/131.3.866s. PMID 11238776.
154. ^ Smith E, Hay P, Campbell L, Trollor JN (September 2011). "A review of the association between obesity and cognitive function across the lifespan: implications for novel approaches to prevention and treatment". Obesity Reviews (Review). 12 (9): 740–55. doi:10.1111/j.1467-789X.2011.00920.x. PMID 21991597. S2CID 6698876.
155. ^ Farruggia MC, Small DM (September 2019). "Effects of adiposity and metabolic dysfunction on cognition: a review". Physiology & Behavior (Review). 208: 112578. doi:10.1016/j.physbeh.2019.112578. PMC 6625347. PMID 31194997.
156. ^ DiBaise JK, Zhang H, Crowell MD, Krajmalnik-Brown R, Decker GA, Rittmann BE (April 2008). "Gut microbiota and its possible relationship with obesity". Mayo Clinic Proceedings (Review). 83 (4): 460–9. doi:10.4065/83.4.460. PMID 18380992.
157. ^ "Antibiotics: repeated treatments before the age of two could be a factor in obesity". Prescrire International. 2018. Retrieved 2 July 2018.
158. ^ a b Cox LM, Blaser MJ (March 2015). "Antibiotics in early life and obesity". Nature Reviews. Endocrinology. 11 (3): 182–90. doi:10.1038/nrendo.2014.210. PMC 4487629. PMID 25488483.
159. ^ Falagas ME, Kompoti M (July 2006). "Obesity and infection". The Lancet. Infectious Diseases (Review). 6 (7): 438–46. doi:10.1016/S1473-3099(06)70523-0. PMID 16790384.
160. ^ a b Cappuccio FP, Taggart FM, Kandala NB, Currie A, Peile E, Stranges S, Miller MA (May 2008). "Meta-analysis of short sleep duration and obesity in children and adults". Sleep. 31 (5): 619–26. doi:10.1093/sleep/31.5.619. PMC 2398753. PMID 18517032.
161. ^ Miller MA, Kruisbrink M, Wallace J, Ji C, Cappuccio FP (April 2018). "Sleep duration and incidence of obesity in infants, children, and adolescents: a systematic review and meta-analysis of prospective studies". Sleep. 41 (4). doi:10.1093/sleep/zsy018. PMID 29401314.
162. ^ Horne, J (May 2011). "Obesity and short sleep: unlikely bedfellows?". Obesity Reviews. 12 (5): e84–94. doi:10.1111/j.1467-789X.2010.00847.x. PMID 21366837. S2CID 23948346.
163. ^ a b Gerlach G, Herpertz S, Loeber S (January 2015). "Personality traits and obesity: a systematic review". Obesity Reviews. 16 (1): 32–63. doi:10.1111/obr.12235. PMID 25470329. S2CID 46500679.
164. ^ Jokela M, Hintsanen M, Hakulinen C, Batty GD, Nabi H, Singh-Manoux A, Kivimäki M (April 2013). "Association of personality with the development and persistence of obesity: a meta-analysis based on individual-participant data". Obesity Reviews. 14 (4): 315–23. doi:10.1111/obr.12007. PMC 3717171. PMID 23176713.
165. ^ Cacioppo, J.; Hawkley, L. (2010). "Loneliness Matters: A Theorectical and Empirical Review of Consequences and Mechanisms". Annals of Behavioral Medicine. 40 (2): 218–227. doi:10.1007/s12160-010-9210-8. PMC 3874845. PMID 20652462.
166. ^ a b c d Flier JS (January 2004). "Obesity wars: molecular progress confronts an expanding epidemic". Cell (Review). 116 (2): 337–50. doi:10.1016/S0092-8674(03)01081-X. PMID 14744442. S2CID 6010027.
167. ^ Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM (December 1994). "Positional cloning of the mouse obese gene and its human homologue". Nature (Research Support). 372 (6505): 425–32. Bibcode:1994Natur.372..425Z. doi:10.1038/372425a0. PMID 7984236. S2CID 4359725.
168. ^ Boulpaep, Emile L.; Boron, Walter F. (2003). Medical physiology: A cellular and molecular approach. Philadelphia: Saunders. p. 1227. ISBN 978-0-7216-3256-8.
169. ^ World Health Organization (2000). Obesity: preventing and managing the global epidemic (Report). World Health Organization. pp. 1–2. Retrieved 1 February 2014.
170. ^ Satcher D (2001). The Surgeon General's Call to Action to Prevent and Decrease Overweight and Obesity. Publications and Reports of the Surgeon General. U.S. Dept. of Health and Human Services, Public Health Service, Office of Surgeon General. ISBN 978-0-16-051005-2.
171. ^ Moyer VA (September 2012). "Screening for and management of obesity in adults: U.S. Preventive Services Task Force recommendation statement". Annals of Internal Medicine (Practice Guideline). 157 (5): 373–8. doi:10.7326/0003-4819-157-5-201209040-00475. PMID 22733087.
172. ^ Brook Barnes (18 July 2007). "Limiting Ads of Junk Food to Children". New York Times. Retrieved 24 July 2008.
173. ^ "Fewer Sugary Drinks Key to Weight Loss". U.S. Department of Health and Human Services. Retrieved 18 October 2009.
174. ^ "WHO urges global action to curtail consumption and health impacts of sugary drinks". WHO. Retrieved 13 October 2016.
175. ^ Brennan Ramirez LK, Hoehner CM, Brownson RC, Cook R, Orleans CT, Hollander M, Barker DC, Bors P, Ewing R, Killingsworth R, Petersmarck K, Schmid T, Wilkinson W (December 2006). "Indicators of activity-friendly communities: an evidence-based consensus process". American Journal of Preventive Medicine (Research Support). 31 (6): 515–24. doi:10.1016/j.amepre.2006.07.026. PMID 17169714.
176. ^ Crockett RA, King SE, Marteau TM, Prevost AT, Bignardi G, Roberts NW, Stubbs B, Hollands GJ, Jebb SA (27 February 2018). "Nutritional Labelling for Healthier Food or Non-Alcoholic Drink Purchasing and Consumption". Cochrane Database of Systematic Reviews. 2 (2): CD009315. doi:10.1002/14651858.CD009315.pub2. PMC 5846184. PMID 29482264.CS1 maint: multiple names: authors list (link)
177. ^ National Heart, Lung, and Blood Institute (1998). Clinical Guidelines on the Identification, Evaluation, and Treatment of Overweight and Obesity in Adults (PDF). International Medical Publishing, Inc. ISBN 978-1-58808-002-8.
178. ^ Storing up problems; the medical case for a slimmer nation. London: Royal College of Physicians. 11 February 2004. ISBN 978-1-86016-200-8.
179. ^ Great Britain Parliament House of Commons Health Committee (May 2004). Obesity – Volume 1 – HCP 23-I, Third Report of session 2003–04. Report, together with formal minutes. London: TSO (The Stationery Office). ISBN 978-0-215-01737-6. Retrieved 17 December 2007.
180. ^ "Obesity: guidance on the prevention, identification, assessment and management of overweight and obesity in adults and children" (PDF). National Institute for Health and Clinical Excellence(NICE). National Health Services (NHS). 2006. Retrieved 8 April 2009.
181. ^ Wanless D, Appleby J, Harrison A, Patel D (2007). Our Future Health Secured? A review of NHS funding and performance. London: The King's Fund. ISBN 978-1-85717-562-2.
182. ^ Sacks G, Swinburn B, Lawrence M (January 2009). "Obesity Policy Action framework and analysis grids for a comprehensive policy approach to reducing obesity". Obesity Reviews. 10 (1): 76–86. doi:10.1111/j.1467-789X.2008.00524.X. PMID 18761640. S2CID 30908778.
183. ^ a b c US Department of Health and Human Services. (2017). "2015–2020 Dietary Guidelines for Americans - health.gov". health.gov. Skyhorse Publishing Inc. Retrieved 30 September 2019.
184. ^ Arnett, Donna K.; Blumenthal, Roger S.; Albert, Michelle A.; Buroker, Andrew B.; Goldberger, Zachary D.; Hahn, Ellen J.; Himmelfarb, Cheryl D.; Khera, Amit; Lloyd-Jones, Donald; McEvoy, J. William; Michos, Erin D.; Miedema, Michael D.; Muñoz, Daniel; Smith, Sidney C.; Virani, Salim S.; Williams, Kim A.; Yeboah, Joseph; Ziaeian, Boback (17 March 2019). "2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease". Circulation. 140 (11): e596–e646. doi:10.1161/CIR.0000000000000678. PMC 7734661. PMID 30879355.
185. ^ Strychar I (January 2006). "Diet in the management of weight loss". CMAJ (Review). 174 (1): 56–63. doi:10.1503/cmaj.045037. PMC 1319349. PMID 16389240.
186. ^ Shick SM, Wing RR, Klem ML, McGuire MT, Hill JO, Seagle H (April 1998). "Persons successful at long-term weight loss and maintenance continue to consume a low-energy, low-fat diet". Journal of the American Dietetic Association. 98 (4): 408–13. doi:10.1016/S0002-8223(98)00093-5. PMID 9550162.
187. ^ Tate DF, Jeffery RW, Sherwood NE, Wing RR (April 2007). "Long-term weight losses associated with prescription of higher physical activity goals. Are higher levels of physical activity protective against weight regain?". The American Journal of Clinical Nutrition (Randomized Controlled Trial). 85 (4): 954–9. doi:10.1093/ajcn/85.4.954. PMID 17413092.
188. ^ Thomas JG, Bond DS, Phelan S, Hill JO, and Wing RR (1 January 2014). "Weight-Loss Maintenance for 10 Years in the National Weight Control Registry". American Journal of Preventive Medicine. 46 (1): 17–23. doi:10.1016/j.amepre.2013.08.019. PMID 24355667.
189. ^ a b c Yannakoulia M, Poulimeneas D, Mamalaki E, Anastasiou CA (1 March 2019). "Dietary modifications for weight loss and weight loss maintenance". Metabolism. 92: 153–162. doi:10.1016/j.metabol.2019.01.001. PMID 30625301.
190. ^ US Preventive Services Task Force (2018). "Behavioral Weight Loss Interventions to Prevent Obesity-Related Morbidity and Mortality in Adults US Preventive Services Task Force Recommendation Statement". JAMA. 320 (11): 1163–1171. doi:10.1001/jama.2018.13022. PMID 30326502.
191. ^ Gibson AA, Sainsbury A (11 July 2017). "Strategies to Improve Adherence to Dietary Weight Loss Interventions in Research and Real-World Settings". Behav Sci (Basel). 7 (3): 44. doi:10.3390/bs7030044. PMC 5618052. PMID 28696389.
192. ^ a b c d Services, Swedish Agency for Health Technology Assessment and Assessment of Social Services (SBU) (1987). "Dietary treatment of obesity". Annals of the New York Academy of Sciences. 499 (1): 250–263. Bibcode:1987NYASA.499..250B. doi:10.1111/j.1749-6632.1987.tb36216.x. PMID 3300485. S2CID 45507530. Retrieved 17 June 2016.
193. ^ Johnston BC, Kanters S, Bandayrel K, Wu P, Naji F, Siemieniuk RA, Ball GD, Busse JW, Thorlund K, Guyatt G, Jansen JP, Mills EJ (September 2014). "Comparison of weight loss among named diet programs in overweight and obese adults: a meta-analysis". JAMA. 312 (9): 923–33. doi:10.1001/jama.2014.10397. PMID 25182101.
194. ^ Naude CE, Schoonees A, Senekal M, Young T, Garner P, Volmink J (2014). "Low carbohydrate versus isoenergetic balanced diets for reducing weight and cardiovascular risk: a systematic review and meta-analysis". PLOS ONE (Research Support). 9 (7): e100652. Bibcode:2014PLoSO...9j0652N. doi:10.1371/journal.pone.0100652. PMC 4090010. PMID 25007189.
195. ^ Wing RR, Phelan S (July 2005). "Long-term weight loss maintenance". The American Journal of Clinical Nutrition (Review). 82 (1 Suppl): 222S–225S. doi:10.1093/ajcn/82.1.222S. PMID 16002825.
196. ^ Thangaratinam S, Rogozinska E, Jolly K, Glinkowski S, Roseboom T, Tomlinson JW, Kunz R, Mol BW, Coomarasamy A, Khan KS (May 2012). "Effects of interventions in pregnancy on maternal weight and obstetric outcomes: meta-analysis of randomised evidence". BMJ (Meta-analysis). 344: e2088. doi:10.1136/bmj.e2088. PMC 3355191. PMID 22596383.
197. ^ LeFevre ML (October 2014). "Behavioral counseling to promote a healthful diet and physical activity for cardiovascular disease prevention in adults with cardiovascular risk factors: U.S. Preventive Services Task Force Recommendation Statement". Annals of Internal Medicine. 161 (8): 587–93. doi:10.7326/M14-1796. PMID 25155419.
198. ^ a b c Heymsfield SB, Wadden TA (January 2017). "Mechanisms, Pathophysiology, and Management of Obesity". The New England Journal of Medicine. 376 (3): 254–266. doi:10.1056/NEJMra1514009. PMID 28099824. S2CID 20407626.
199. ^ a b Wolfe SM (August 2013). "When EMA and FDA decisions conflict: differences in patients or in regulation?". BMJ. 347: f5140. doi:10.1136/bmj.f5140. PMID 23970394. S2CID 46738622.
200. ^ "Belviq, Belviq XR (lorcaserin) by Eisai: Drug Safety Communication - FDA Requests Withdrawal of Weight-Loss Drug". FDA. 13 February 2020. Retrieved 18 February 2020.
201. ^ Rucker D, Padwal R, Li SK, Curioni C, Lau DC (December 2007). "Long term pharmacotherapy for obesity and overweight: updated meta-analysis". BMJ (Meta-analysis). 335 (7631): 1194–9. doi:10.1136/bmj.39385.413113.25. PMC 2128668. PMID 18006966.
202. ^ Wood, Shelley. "Diet Drug Orlistat Linked to Kidney, Pancreas Injuries". Medscape. Medscape News. Retrieved 26 April 2011.
203. ^ a b Chang SH, Stoll CR, Song J, Varela JE, Eagon CJ, Colditz GA (March 2014). "The effectiveness and risks of bariatric surgery: an updated systematic review and meta-analysis, 2003–2012". JAMA Surgery (Meta-analysis, Review). 149 (3): 275–87. doi:10.1001/jamasurg.2013.3654. PMC 3962512. PMID 24352617.
204. ^ Yoshino M, Kayser BD, Yoshino J, Stein RI, Reeds D, Eagon JC, Eckhouse SR, et al. (19 August 2020). "Effects of Diet versus Gastric Bypass on Metabolic Function in Diabetes". New England Journal of Medicine. 383 (8): 721–732. doi:10.1056/NEJMoa2003697. PMC 7456610. PMID 32813948.
205. ^ Sjöström L, Narbro K, Sjöström CD, Karason K, Larsson B, Wedel H, Lystig T, Sullivan M, Bouchard C, Carlsson B, Bengtsson C, Dahlgren S, Gummesson A, Jacobson P, Karlsson J, Lindroos AK, Lönroth H, Näslund I, Olbers T, Stenlöf K, Torgerson J, Agren G, Carlsson LM (August 2007). "Effects of bariatric surgery on mortality in Swedish obese subjects". The New England Journal of Medicine (Research Support). 357 (8): 741–52. doi:10.1056/NEJMoa066254. PMID 17715408. S2CID 20533869.
206. ^ Weintraub, Karen. "New allies in war on weight". The Boston Globe. The Boston Globe. Retrieved 30 June 2014.
207. ^ "Global Prevalence of Adult Obesity" (PDF). International Obesity Taskforce. Archived from the original (PDF) on 27 March 2009. Retrieved 29 January 2008.
208. ^ Roser, Max; Ritchie, Hannah (11 August 2017). "Obesity". Our World in Data. Retrieved 31 December 2017.
209. ^ a b c Haslam D (March 2007). "Obesity: a medical history". Obesity Reviews (Review). 8 Suppl 1: 31–6. doi:10.1111/j.1467-789X.2007.00314.x. PMID 17316298. S2CID 43866948.
210. ^ a b "Obesity and overweight". World Health Organization. Retrieved 8 April 2009.
211. ^ Hales CM, Carroll MD, Fryar CD, Ogden CL (October 2017). "Prevalence of Obesity Among Adults and Youth: United States, 2015–2016". NCHS Data Brief (288): 1–8. PMID 29155689.
212. ^ Seidell 2005 p.5
213. ^ Howard NJ, Taylor AW, Gill TK, Chittleborough CR (March 2008). "Severe obesity: Investigating the socio-demographics within the extremes of body mass index". Obesity Research & Clinical Practice. 2 (1): I–II. doi:10.1016/j.orcp.2008.01.001. PMID 24351678.
214. ^ Tjepkema M (6 July 2005). "Measured Obesity–Adult obesity in Canada: Measured height and weight". Nutrition: Findings from the Canadian Community Health Survey. Ottawa, Ontario: Statistics Canada.
215. ^ "Obesity Update 2017" (PDF). Organisation for Economic Co-operation and Development. Retrieved 6 October 2018.
216. ^ "Online Etymology Dictionary: Obesity". Douglas Harper. Retrieved 31 December 2008.
217. ^ "Obesity, n". Oxford English Dictionary 2008. Archived from the original on 11 January 2008. Retrieved 21 March 2009.
218. ^ a b Bloomgarden ZT (November 2003). "Prevention of obesity and diabetes". Diabetes Care (Review). 26 (11): 3172–8. doi:10.2337/diacare.26.11.3172. PMID 14578257.
219. ^ a b "History of Medicine: Sushruta – the Clinician – Teacher par Excellence" (PDF). Dwivedi, Girish & Dwivedi, Shridhar. 2007. Archived from the original (PDF) on 10 October 2008. Retrieved 19 September 2008.
220. ^ Theodore Mazzone; Giamila Fantuzzi (2006). Adipose Tissue And Adipokines in Health And Disease (Nutrition and Health). Totowa, NJ: Humana Press. p. 222. ISBN 978-1-58829-721-1.
221. ^ Keller p. 49
222. ^ Gilman, Sander L (2004). Fat Boys: A Slim Book. University of Nebraska Press. p. 18. ISBN 978-0803221833. "tobias venner obesity."
223. ^ Breslow L (September 1952). "Public health aspects of weight control". American Journal of Public Health and the Nation's Health. 42 (9): 1116–20. doi:10.2105/AJPH.42.9.1116. PMC 1526346. PMID 12976585.
224. ^ a b Puhl R, Brownell KD (December 2001). "Bias, discrimination, and obesity". Obesity Research (Review). 9 (12): 788–805. doi:10.1038/oby.2001.108. PMID 11743063.
225. ^ Rubinstein S, Caballero B (2000). "Is Miss America an undernourished role model?". JAMA (Letter). 283 (12): 1569. doi:10.1001/jama.283.12.1569. PMID 10735392.
226. ^ a b Johnson F, Cooke L, Croker H, Wardle J (July 2008). "Changing perceptions of weight in Great Britain: comparison of two population surveys". BMJ. 337: a494. doi:10.1136/bmj.a494. PMC 2500200. PMID 18617488.
227. ^ Fumento, Michael (1997). The Fat of the Land: Our Health Crisis and How Overweight Americans Can Help Themselves. Penguin (Non-Classics). p. 126. ISBN 978-0-14-026144-8.
228. ^ a b Puhl R., Henderson K., and Brownell K. 2005 p.29
229. ^ Johansson E, Böckerman P, Kiiskinen U, Heliövaara M (March 2009). "Obesity and labour market success in Finland: the difference between having a high BMI and being fat". Economics and Human Biology. 7 (1): 36–45. doi:10.1016/j.ehb.2009.01.008. PMID 19249259.
230. ^ Cawley J, Meyerhoefer C (January 2012). "The medical care costs of obesity: an instrumental variables approach". Journal of Health Economics. 31 (1): 219–30. doi:10.1016/j.jhealeco.2011.10.003. PMID 22094013. S2CID 6717295.
231. ^ Finkelstein EA, Fiebelkorn IA, Wang G (1 January 2003). "National medical spending attributable to overweight and obesity: How much, and who's paying". Health Affairs. Online (May): W3–219–W3–226. doi:10.1377/hlthaff.w3.219. PMID 14527256.
232. ^ "Obesity and overweight: Economic consequences". Centers for Disease Control and Prevention. 22 May 2007. Retrieved 5 September 2007.
233. ^ Colagiuri S, Lee CM, Colagiuri R, Magliano D, Shaw JE, Zimmet PZ, Caterson ID (March 2010). "The cost of overweight and obesity in Australia". The Medical Journal of Australia (Comparative Study). 192 (5): 260–4. doi:10.5694/j.1326-5377.2010.tb03503.x. PMID 20201759. S2CID 1588787.
234. ^ Cummings, Laura (5 February 2003). "The diet business: Banking on failure". BBC News. Retrieved 25 February 2009.
235. ^ "Public health experts call for global food treaty". Financial Times. 27 January 2019. Retrieved 7 March 2019.
236. ^ van Baal PH, Polder JJ, de Wit GA, Hoogenveen RT, Feenstra TL, Boshuizen HC, Engelfriet PM, Brouwer WB (February 2008). "Lifetime medical costs of obesity: prevention no cure for increasing health expenditure". PLOS Medicine (Comparative Study). 5 (2): e29. doi:10.1371/journal.pmed.0050029. PMC 2225430. PMID 18254654.
237. ^ Bakewell J (2007). "Bariatric furniture: Considerations for use". Int J Ther Rehabil. 14 (7): 329–33. doi:10.12968/ijtr.2007.14.7.23858. Archived from the original on 8 October 2011.
238. ^ Neovius K, Johansson K, Kark M, Neovius M (January 2009). "Obesity status and sick leave: a systematic review". Obesity Reviews (Review). 10 (1): 17–27. doi:10.1111/j.1467-789X.2008.00521.x. PMID 18778315. S2CID 20420379.
239. ^ Ostbye T, Dement JM, Krause KM (April 2007). "Obesity and workers' compensation: results from the Duke Health and Safety Surveillance System". Archives of Internal Medicine (Research Support). 167 (8): 766–73. doi:10.1001/archinte.167.8.766. PMID 17452538.
240. ^ "Alabama "Obesity Penalty" Stirs Debate". Don Fernandez. Retrieved 5 April 2009.
241. ^ Puhl R., Henderson K., and Brownell K. 2005 p.30
242. ^ Lisa DiCarlo (24 October 2002). "Why Airlines Can't Cut The Fat". Forbes.com. Retrieved 23 July 2008.
243. ^ Dannenberg AL, Burton DC, Jackson RJ (October 2004). "Economic and environmental costs of obesity: the impact on airlines". American Journal of Preventive Medicine (Letter). 27 (3): 264. doi:10.1016/j.amepre.2004.06.004. PMID 15450642.
244. ^ Lauren Cox (2 July 2009). "Who Should Pay for Obese Health Care?". ABC News. Retrieved 6 August 2012.
245. ^ a b "109th U.S. Congress (2005–2006) H.R. 554: 109th U.S. Congress (2005–2006) H.R. 554: Personal Responsibility in Food Consumption Act of 2005". GovTrack.us. Retrieved 24 July 2008.
246. ^ a b Basulto, Dominic (20 June 2013). "A changing battlefield in the fight against fat". The Washington Post. Archived from the original on 2 September 2014. Retrieved 20 June 2013.
247. ^ "Obesity can be deemed a disability at work – EU court". Reuters. 18 December 2014. Retrieved 18 December 2014.
248. ^ "What is NAAFA". National Association to Advance Fat Acceptance. Archived from the original on 12 March 2009. Retrieved 17 February 2009.
249. ^ "ISAA Mission Statement". International Size Acceptance Association. Retrieved 17 February 2009.
250. ^ a b Pulver, Adam (2007). An Imperfect Fit: Obesity, Public Health, and Disability Anti-Discrimination Law. Social Science Electronic Publishing. SSRN 1316106.
251. ^ Neumark-Sztainer D (March 1999). "The weight dilemma: a range of philosophical perspectives". International Journal of Obesity and Related Metabolic Disorders (Review). 23 Suppl 2: S31–7. doi:10.1038/sj.ijo.0800857. PMID 10340803.
252. ^ National Association to Advance Fat Acceptance (2008). "We come in all sizes". NAAFA. Retrieved 29 July 2008.
253. ^ "International Size Acceptance Association – ISAA". International Size Acceptance Association. Retrieved 13 January 2009.
254. ^ O’Connor, Anahad (9 August 2015). "Coca-Cola Funds Scientists Who Shift Blame for Obesity Away From Bad Diets". New York Times.
255. ^ Nestle M (November 2016). "Food Industry Funding of Nutrition Research: The Relevance of History for Current Debates". JAMA Internal Medicine. 176 (11): 1685–1686. doi:10.1001/jamainternmed.2016.5400. PMID 27618496. S2CID 29815670.
256. ^ a b Flynn MA, McNeil DA, Maloff B, Mutasingwa D, Wu M, Ford C, Tough SC (February 2006). "Reducing obesity and related chronic disease risk in children and youth: a synthesis of evidence with 'best practice' recommendations". Obesity Reviews (Review). 7 Suppl 1: 7–66. doi:10.1111/j.1467-789X.2006.00242.x. PMID 16371076. S2CID 5992031.
257. ^ Lawrence, Justin (February 2005). "Childhood Obesity". British Journal of Perioperative Nursing (United Kingdom). 15 (2): 84–90. doi:10.1177/175045890501500204. ISSN 1467-1026. PMID 15736809. S2CID 31102802.
258. ^ Brownback, Sam (January 2008). "Confronting Childhood Obesity". The Annals of the American Academy of Political and Social Science. 615 (1): 219–221. doi:10.1177/0002716207308894. ISSN 0002-7162. S2CID 144317779.
259. ^ Dollman J, Norton K, Norton L (December 2005). "Evidence for secular trends in children's physical activity behaviour". British Journal of Sports Medicine (Review). 39 (12): 892–7, discussion 897. doi:10.1136/bjsm.2004.016675. PMC 1725088. PMID 16306494.
260. ^ Metcalf B, Henley W, Wilkin T (September 2012). "Effectiveness of intervention on physical activity of children: systematic review and meta-analysis of controlled trials with objectively measured outcomes (EarlyBird 54)". BMJ (Review, Meta-analysis). 345: e5888. doi:10.1136/bmj.e5888. PMID 23044984.
261. ^ Mead E, Brown T, Rees K, Azevedo LB, Whittaker V, Jones D, Olajide J, Mainardi GM, Corpeleijn E, O'Malley C, Beardsmore E, Al-Khudairy L, Baur L, Metzendorf MI, Demaio A, Ells LJ (June 2017). "Diet, physical activity and behavioural interventions for the treatment of overweight or obese children from the age of 6 to 11 years" (PDF). The Cochrane Database of Systematic Reviews. 6: CD012651. doi:10.1002/14651858.CD012651. PMC 6481885. PMID 28639319.
262. ^ a b Lund EM (2006). "Prevalence and Risk Factors for Obesity in Adult Dogs from Private US Veterinary Practices" (PDF). Intern J Appl Res Vet Med. 4 (2): 177–86.
263. ^ McGreevy PD, Thomson PC, Pride C, Fawcett A, Grassi T, Jones B (May 2005). "Prevalence of obesity in dogs examined by Australian veterinary practices and the risk factors involved". The Veterinary Record. 156 (22): 695–702. doi:10.1136/vr.156.22.695. PMID 15923551. S2CID 36725298.
264. ^ Nijland ML, Stam F, Seidell JC (January 2010). "Overweight in dogs, but not in cats, is related to overweight in their owners". Public Health Nutrition. 13 (1): 102–6. doi:10.1017/S136898000999022X. PMID 19545467.
Bibliography
* Jebb S. and Wells J. Measuring body composition in adults and children In:Peter G. Kopelman; Ian D. Caterson; Michael J. Stock; William H. Dietz (2005). Clinical obesity in adults and children: In Adults and Children. Blackwell Publishing. pp. 12–28. ISBN 978-1-4051-1672-5.
* Kopelman P., Caterson I. An overview of obesity management In:Peter G. Kopelman; Ian D. Caterson; Michael J. Stock; William H. Dietz (2005). Clinical obesity in adults and children: In Adults and Children. Blackwell Publishing. pp. 319–26. ISBN 978-1-4051-1672-5.
* National Heart, Lung, and Blood Institute (NHLBI) (1998). Clinical Guidelines on the Identification, Evaluation, and Treatment of Overweight and Obesity in Adults (PDF). International Medical Publishing, Inc. ISBN 978-1-58808-002-8.
* "Obesity: guidance on the prevention, identification, assessment and management of overweight and obesity in adults and children" (PDF). National Institute for Health and Clinical Excellence(NICE). National Health Services (NHS). 2006. Retrieved 8 April 2009.
* Puhl R., Henderson K., and Brownell K. Social consequences of obesity In:Peter G. Kopelman; Ian D. Caterson; Michael J. Stock; William H. Dietz (2005). Clinical obesity in adults and children: In Adults and Children. Blackwell Publishing. pp. 29–45. ISBN 978-1-4051-1672-5.
* Seidell JC. Epidemiology – definition and classification of obesity In:Peter G. Kopelman; Ian D. Caterson; Michael J. Stock; William H. Dietz (2005). Clinical obesity in adults and children: In Adults and Children. Blackwell Publishing. pp. 3–11. ISBN 978-1-4051-1672-5.
* World Health Organization (WHO) (2000). Technical report series 894: Obesity: Preventing and managing the global epidemic (PDF). Geneva: World Health Organization. ISBN 978-92-4-120894-9. Archived from the original (PDF) on 1 May 2015. Retrieved 10 May 2006.
Further reading
Wikipedia's health care articles can be viewed offline with the Medical Wikipedia app.
* Obesity at Curlie
* "Obesity 2015". The Lancet. 2015.
* Keller, Kathleen (2008). Encyclopedia of Obesity. Thousand Oaks, Calif: Sage Publications, Inc. ISBN 978-1-4129-5238-5.
Classification
D
* ICD-11: 5B81
* ICD-10: E66
* ICD-9-CM: 278
* OMIM: 601665
* MeSH: D009765
* DiseasesDB: 9099
External resources
* MedlinePlus: 007297
* eMedicine: med/1653
Portals
Access related topics
* Medicine portal
* * *
Find out more on
Wikipedia's
Sister projects
* Media
from Commons
* Travel guides
from Wikivoyage
* News stories
from Wikinews
* Definitions
from Wiktionary
* Textbooks
from Wikibooks
* Quotations
from Wikiquote
* Source texts
from Wikisource
* Learning resources
from Wikiversity
* v
* t
* e
Obesity
* Overweight
* Childhood obesity
* Abdominal obesity
* Weight gain
* Obesity hypoventilation syndrome
* Bariatric surgery
* Obesity and walking
* Overnutrition
Authority control
* BNF: cb11932876d (data)
* GND: 4016953-4
* LCCN: sh85093646
* NARA: 10644509
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Obesity | c0028754 | 28,800 | wikipedia | https://en.wikipedia.org/wiki/Obesity | 2021-01-18T18:46:52 | {"mesh": ["D009765"], "umls": ["C0028754"], "orphanet": ["71529"], "wikidata": ["Q12174"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Hypersexual disorder" – news · newspapers · books · scholar · JSTOR (August 2017) (Learn how and when to remove this template message)
This article needs attention from an expert on the subject. Please add a reason or a talk parameter to this template to explain the issue with the article.
When placing this tag, consider associating this request with a WikiProject. (August 2017)
(Learn how and when to remove this template message)
Hypersexual disorder is a pattern of behavior involving intense preoccupation with sexual fantasies and behaviours that cause distress, are inappropriately used to cope with stress, cannot be voluntarily curtailed, and risk or cause harm to oneself or others.[1] This disorder can also cause impairment in social, occupational or other important functions.[2] It was proposed in 2010 for inclusion in the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM-5) of the American Psychiatric Association (APA).
## Contents
* 1 Criteria
* 2 History
* 3 See also
* 4 References
* 5 External links
## Criteria[edit]
People with hypersexual disorder experience multiple, unsuccessful attempts to control or diminish the amount of time spent engaging in sexual fantasies, urges, and behaviors. Individuals may engage in sexual behaviors that they experience as compulsive, despite knowledge of adverse medical, legal, and/or interpersonal consequences, and may neglect social and recreational activities and role responsibilities[3]
For a valid diagnosis of hypersexual disorder to be established, symptoms must persist for a period of at least 6 months and occur independently of mania or a medical condition.[4]
## History[edit]
Hypersexual disorder was recommended for inclusion in the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition) by the Sexual and Gender Identity Disorders Workgroup (Emerging Measures and Models, Conditions for Further Study). It was ultimately not approved.[5] The term hypersexual disorder was reportedly chosen because it did not imply any specific theory for the causes of hypersexuality, which remain unknown.[6] A proposal to add sexual addiction to the DSM system had been previously rejected by the APA, as not enough evidence suggested to them that the condition is analogous to substance addictions, as that name would imply.[7][8][9]
Rory Reid, a research psychologist in the Department of Psychiatry at the University of California Los Angeles (UCLA), led a team of researchers to investigate the proposed criteria for Hypersexual Disorder. Their findings were published in the Journal of Sexual Medicine where they concluded that the given criteria is valid and the disorder could be reliably diagnosed. [10]
The DSM-IV-TR, published in 2000, includes an entry called "Sexual Disorder—Not Otherwise Specified" (Sexual Disorder NOS), for disorders that are clinically significant but do not have code. The DSM-IV-TR notes that Sexual Disorder NOS would apply to, among other conditions, "distress about a pattern of repeated sexual relationships involving a succession of lovers who are experienced by the individual only as things to be used".[11]
## See also[edit]
* Psychology portal
* Human sexuality portal
* Compulsive masturbation
* Don Juanism
* Klüver–Bucy syndrome
* Persistent sexual arousal syndrome
* Pornography addiction
* Sexual obsessions
## References[edit]
1. ^ Herron, Abigail J., Brennan, Tim K. eds. ASAM Essentials of Addiction Medicine, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; 2020.
2. ^ Kafka, Martin P. (2010-04-01). "Hypersexual Disorder: A Proposed Diagnosis for DSM-V". Archives of Sexual Behavior. 39 (2): 377–400. CiteSeerX 10.1.1.433.1948. doi:10.1007/s10508-009-9574-7. ISSN 0004-0002. PMID 19937105.
3. ^ Herron, Abigail J., Brennan, Tim K. eds. ASAM Essentials of Addiction Medicine, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; 2020.
4. ^ "American Psychiatric Association DSM-5 Development Page for Hypersexual Disorder". Dsm5.com. Retrieved 28 August 2017.
5. ^ "DSM-5 Development Page for Sexual Dysfunctions". Dsm5.org. Retrieved 28 August 2017.
6. ^ Kafka, M. P. (2010). Hypersexual Disorder: A proposed diagnosis for DSM-V. Archives of Sexual Behavior, 39, 377–400.
7. ^ "Psychiatry's bible: Autism, binge-eating updates proposed for 'DSM' - USATODAY.com". Usatoday.com. Retrieved 28 August 2017.
8. ^ "Archived copy". Archived from the original on 2011-07-27. Retrieved 2011-03-06.CS1 maint: archived copy as title (link)
9. ^ "New Diagnostic Guidelines for Mental Illnesses Proposed". Health.usnews.com. Retrieved 2017-08-28.
10. ^ Reid, Rory C.; Carpenter, Bruce N.; Hook, Joshua N.; Garos, Sheila; Manning, Jill C.; Gilliland, Randy; Cooper, Erin B.; McKittrick, Heather; Davtian, Margarit; Fong, Timothy (1 November 2012). "Report of Findings in a DSM-5 Field Trial for Hypersexual Disorder". The Journal of Sexual Medicine. 9 (11): 2868–2877. doi:10.1111/j.1743-6109.2012.02936.x. PMID 23035810.
11. ^ American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text revision). Washington, DC: Author.
## External links[edit]
Look up Wikisaurus:libidinist in Wiktionary, the free dictionary.
* WikiSaurus:libidinist
* v
* t
* e
Outline of human sexuality
Physiology and biology
* Erection
* Insemination
* Intersex
* Libido
* Nocturnal emission
* Orgasm
* Female and male ejaculation
* Pelvic thrust
* Pre-ejaculate
* Pregnancy
* Sexual arousal
* Sexual stimulation
Health and
education
* Birth control
* Condom
* Masters and Johnson
* Reproductive medicine
* Andrology
* Gynaecology
* Urology
* Safe sex
* Sex education
* Sex therapy (PLISSIT model)
* Sexology
* Sexual dysfunction
* Erectile dysfunction
* Hypersexuality
* Hyposexuality
* Sexual medicine
* Sexual surrogate
* Sexually transmitted infection
Identity and diversity
* Gender binary
* Gender identity
* Men who have sex with men
* Sexual identity
* Sexual orientation
* Women who have sex with women
Law
* Age of consent
* Criminal transmission of HIV
* Child sexual abuse
* Incest
* Indecent exposure
* Obscenity
* Sexual abuse
* Cybersex trafficking
* Rape
* Sex trafficking
* Sexual assault
* Sexual harassment
* Sexual misconduct
* Sexual slavery
* Sexual violence
History
* Blue Movie
* Counterculture of the 1960s
* Feminist sex wars
* Golden Age of Porn
* History of erotic depictions
* Sexual revolution
Relationships
and society
* Anarchism and love/sex
* Extramarital sex
* Family planning
* Flirting
* Free love
* Marriage
* Modesty
* Polyamory
* Premarital sex
* Promiscuity
* Romance
* Sex-positive movement
* Sexual abstinence
* Sexual addiction
* Sexual attraction
* Sexual capital
* Sexual ethics
* Sexual objectification
* Sexual slang
By country
* Ancient Rome
* China
* India
* Japan
* Philippines
* South Korea
* United States
Sexual activities
* Conventional sex
* Anal sex
* Bareback
* BDSM
* Child sex
* Creampie
* Edging
* Erotic sexual denial
* Fetishism
* Fingering
* Fisting
* Gang bang
* Group sex
* Masturbation
* Mechanics of sex
* Nipple stimulation
* Non-penetrative sex
* Facial
* Foot fetishism
* Footjob
* Forced orgasm
* Frot
* Handjob
* Mammary intercourse
* Sumata
* Oral sex
* 69
* Anilingus
* Cunnilingus
* Fellatio
* Irrumatio
* Paraphilia
* Pompoir
* Quickie
* Sex in space
* Sex positions
* Sexual fantasy
* Sexual fetishism
* Sexual intercourse
* Foreplay
* Sexual penetration
* Swinging
* Tribadism
* Urethral intercourse
* Urolagnia
* Virtual sex
* Cybersex
* Erotic talk
* Wet T-shirt contest
Sex industry
* Red-light district
* Adult video games
* Erotica
* Pornography
* Film actor
* Prostitution
* Survival sex
* Sex museum
* Sex shop
* Sex tourism
* Child
* Female
* Sex worker
* Sex toy
* doll
* Strip club
* Webcam model
Religion and
sexuality
* Buddhism
* Christian demonology
* Daoism
* Islam
* Mormonism
* Sex magic
* Human sexuality portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypersexual disorder | None | 28,801 | wikipedia | https://en.wikipedia.org/wiki/Hypersexual_disorder | 2021-01-18T18:34:10 | {"wikidata": ["Q5958573"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Autovampirism" – news · newspapers · books · scholar · JSTOR (August 2013) (Learn how and when to remove this template message)
Autovampirism
SpecialtyPsychiatry
SymptomsSuturing, opening of wounds; self-harm
Usual onsetPuberty[1]
CausesUsually after traumatic incident
Auto-vampirism is a form of vampirism that refers to drinking one's own blood, typically as a form of sexual gratification.[2] As a mental disorder, this is also called as autohemophagia, which is derived from three Greek words: auto, which means "self"; hemo, for "blood"; and, phag, meaning "to eat".[3] Although closely related to vampirism, the two differ in that vampirism is a sadistic act while auto-vampirism is on the side of masochism.[4] Along with drinking their own blood, most practitioners of auto-vampirism also engage in self-harm in order to obtain the blood.[5]
## Contents
* 1 Background
* 2 Development
* 3 See also
* 4 References
## Background[edit]
Auto-vampirism is considered a pathology of vampiristic behavior or "clinical vampirism",[6] which also includes any violent or sexual act done to or in the presence of the body of a dead being, not drinking the blood of a living human. Clinical psychologist Richard Noll introduced this term and was coined after the mental patient who assisted Dracula in Bram Stoker's novel.[6] Auto-vampirism is typically the first stage of clinical vampirism, or more commonly known as Renfield's Syndrome.[4] It is, however, not recognized in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR 2000).[7]
## Development[edit]
The habit of drinking ones own blood usually begins during childhood, most commonly as a result of a traumatic event that results in a person linking pleasure with violence and more specifically blood.[8] It develops by first scraping or cutting one's own skin to extract and ingest blood, later resulting in learning where and how to cut and open major veins and arteries for larger amounts of blood.[9] Sometimes, they will also store their own blood for later consumption or just because they like to look at it. Eventually, auto-vampirism develops into clinical vampirism.[10] According to clinical psychologist Noll, this process includes three stages: autovampirism, zoophagia (the progressive paraphilic stage[11] that involves eating of animals or drinking of animals' blood), and clinical or true vampirism.[2]
As the child goes through puberty, they begin to link sexuality to the pleasure that is already derived from vampirism. There is also usually a sense that seeing or drinking their blood gives them power or increased health, as in general vampirism. At this point, it is considered fetishistic.
There are cases where vampirism and auto-vampirism are one of many symptoms of schizophrenia.[12] This was illustrated in the case of a 35- year old woman with schizophrenia who experienced severe depersonalization and auditory hallucinations that commanded her to drink her own blood. Auto-vampirism, for her, was part of a delusion about a purification process.[13]
Auto-vampirism can cause anemia, abdominal pain, nausea, and more. It's difficult to determine all the consequences of auto-vampirism due to the difficulty of finding people who drink their own blood.[14] It is noted that the pathologies that are associated with vampirism is exceedingly rare.[6]
## See also[edit]
* Vampire lifestyle
## References[edit]
1. ^ Hickey, Eric W. (2016). Serial Murderers and Their Victims. Boston, MA: Cengage Learning. p. 380. ISBN 9781305261693.
2. ^ a b Aggrawal, Anil (2008). Forensic and Medico-legal Aspects of Sexual Crimes and Unusual Sexual Practices. Boca Raton, FL: CRC Press. p. 371. ISBN 9781420043082.
3. ^ Kelly, Evelyn (2016). The 101 Most Unusual Diseases and Disorders. Santa Barbara, CA: ABC-CLIO. p. 107. ISBN 9781610696753.
4. ^ a b Bourguignon, A (February 1977). "[Status of vampirism and autovampirism]". Annales Medico-psychologiques. 1 (2): 181–96. ISSN 0003-4487. PMID 883741.
5. ^ McCully, R. S. (1964). Vampirism: Historical perspective and underlying process in relation to a case of auto-vampirism. Journal of Nervous and Mental Disease, 139, 440–451.
6. ^ a b c Laycock, Joseph (2009). Vampires Today: The Truth about Modern Vampirism. Wesport, CT: Praeger. p. 24. ISBN 9780313364723.
7. ^ Oppawasky, Jolene (2010-12-22). "Vampirism: clinical vampirism--Renfield's syndrome". Annals of the American Psychotherapy Association. 13 (4). Archived from the original on 2018-12-18. Retrieved 2018-12-18.
8. ^ "Vampirism" (PDF). Forensic Psychology. 2018. Archived (PDF) from the original on December 18, 2018. Retrieved December 18, 2018.
9. ^ Olry, Régis; Haines, Duane E. (October 2011). "Renfield's Syndrome: A Psychiatric Illness Drawn from Bram Stoker'sDracula". Journal of the History of the Neurosciences. 20 (4): 368–371. doi:10.1080/0964704x.2011.595655. ISSN 0964-704X. PMID 22003862.
10. ^ "Vampire Killers - murderers who were inspired by a lust for blood - The Crime library". 2007-12-18. Archived from the original on 2007-12-18. Retrieved 2018-12-01.
11. ^ Hickey, Eric W. (2016). Serial Murderers and Their Victims. Boston, MA: Cengage Learning. p. 380. ISBN 9781305261693.
12. ^ Laycock, Joseph (2009). Vampires Today: The Truth about Modern Vampirism. Westport, CT: Praeger. p. 24. ISBN 9780313364723.
13. ^ Jensen, Hans Mørch; Poulsen, Henrik Day (January 2002). "Auto-vampirism in schizophrenia". Nordic Journal of Psychiatry. 56 (1): 47–48. doi:10.1080/08039480252803918. ISSN 0803-9488. PMID 11869465.
14. ^ Jali, H M (October 1989). "Tuberculous Anal Ulcer". Journal of the Royal Society of Medicine. 82 (10): 629–630. doi:10.1177/014107688908201026. ISSN 0141-0768. PMC 1292348. PMID 2810303.
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
This sexuality-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autovampirism | None | 28,802 | wikipedia | https://en.wikipedia.org/wiki/Autovampirism | 2021-01-18T19:10:54 | {"wikidata": ["Q4827032"]} |
Blacks in particular may show spotted pigmentation of the tip of the tongue. The melanin is located on the summit of the fungiform papillae. Davis (1968) commented on the occurrence of pigmented spots and patches of the tongue, a possibly different phenotype. Rao (1970) collected data on 132 families from West Bengal and concluded that the trait segregates, the 'normal' allele being dominant over the 'pigmented' allele, i.e., pigment spots (or patches) being a recessive trait. Rao and Bose (1970) showed that tongue pigmentation is rare in the newborn. Rao and Gorai (1970) estimated that penetrance in adults is nearly 89%.
Tongue \- Spotted pigmentation of the tip of the tongue Lab \- Melanin on summit of fungiform papillae Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF | c1848756 | 28,803 | omim | https://www.omim.org/entry/275250 | 2019-09-22T16:21:39 | {"omim": ["275250"]} |
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Syndromic multisystem autoimmune disease due to Itch deficiency | c3150649 | 28,804 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228426 | 2021-01-23T16:54:05 | {"gard": ["10775"], "omim": ["613385"]} |
Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Temporomandibular ankylosis | c2931375 | 28,805 | gard | https://rarediseases.info.nih.gov/diseases/5136/temporomandibular-ankylosis | 2021-01-18T17:57:23 | {"mesh": ["C536957"], "umls": ["C2931375"], "synonyms": ["Ankylosis of the temporomandibular joint (TMJ)", "TMJ Ankylosis"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Catathrenia" – news · newspapers · books · scholar · JSTOR (March 2015) (Learn how and when to remove this template message)
Catathrenia is a sleep-related breathing disorder, consisting of end-inspiratory apnea (breath holding) and expiratory groaning during sleep. This disorder is more prevalent during REM sleep, however some studies have documented catathrenia during NREM sleep. The term catathrenia originates from the Greek kata (below) and threnia (to lament) and describes a rare condition which occurs during sleep being characterized by monotonous irregular groans also known as nocturnal groaning.[1] Multiple studies have described nocturnal vocalisation among animals and have also reported some cases in humans, especially in patients with Parkinson's disease. The nocturnal vocalisation can be groaning, moaning, or different sounds produced while asleep, the most encountered being catathrenia and sleep talking (somniloquy).[2] The duration of the groaning sound varies from two to 49 s and it is known to appear more often during expiration REM sleep than in NREM sleep.[3] Catathrenia is distinct from both somniloquy and obstructive sleep apnea (OSA). The sound is produced during exhalation as opposed to snoring, which occurs during inhalation. It is usually not noticed by the person producing the sound but can be extremely disturbing to sleep partners.[1] Bed partners generally report hearing the person take a deep breath, hold it, then slowly exhale; often with a high-pitched squeak or groaning sound.[4]
Catathrenia typically, sometimes even exclusively, occurs during REM sleep,[1] although it may also occur to a lesser degree during NREM sleep. Catathrenia begins with a deep inspiration. The person with catathrenia holds her or his breath against a closed glottis, similar to the Valsalva maneuver. Expiration can be slow and accompanied by sound caused by vibration of the vocal cords or a simple rapid exhalation with no sound[citation needed]. Despite a slower breathing rate, no oxygen desaturation usually occurs.[5][6][7] Certain side effects include sore throat, fatigue, and dizziness.[8]
There is debate[citation needed] about whether the cause is physical or neurological, a question that requires further study. While some[who?] speculate about a direct correlation to high anxiety and stress or the concept that catathrenia is purely psychological, there is only anecdotal evidence of either proposed cause.
## Contents
* 1 Classification
* 2 Signs and symptoms
* 2.1 Common characteristics in reported cases
* 2.2 Discrepancies among reported cases
* 3 Epidemiology
* 4 Management
* 5 References
* 6 External links
## Classification[edit]
Catathrenia has been defined as a parasomnia in the International Classification of Sleep Disorders Diagnostic and Coding Manual (ICSD-2), but there is debate about its classification.[1] Importantly, in the latest version of the International Classification of Sleep Disorders (ICSD-3), catathrenia has been included in the category of respiratory disorders, and thus it has been removed from the parasomnia category, as it was in the second version of the manual; nevertheless, a debate about the nature and classification of the disorder, still exist.[9]
## Signs and symptoms[edit]
Because catathrenia itself is not considered life-threatening, there has been very little research done in the medical community, and many experts assume that the way to treat catathrenia is to treat the underlying sleep apnea, though there is no conclusive evidence published that catathrenia results from sleep apnea, and sleep studies show that not all people with catathrenia have been diagnosed with sleep apnea.[citation needed] While doctors tend to dismiss it as an inconvenience,[citation needed] people with catathrenia routinely describe the condition's highly negative effects on their daily lives including tiredness, low energy, dizziness and vertigo, work problems, relationship and social issues, and other physical and mental problems that could be associated with low sleep quality.
### Common characteristics in reported cases[edit]
There are reported characteristics that are shared among patients with catathrenia. The main characteristics are:
* Vocal sound: Sounds are usually a short or long vocalisation of the same letter (mainly an [a], [e], [o] sound or something in between).[6] Contrary to snoring which has only formants, catathrenia has also harmonics and show more regular and similar patterns between nights.[10]
* Onset of groanings: Groanings tend to begin in childhood, adolescence or early adulthood.[11] The ICSD-2 established the age of onset ranging from 5 to 36 years. [12]
* Consistency from night to night.
* Appearing during expiration: The sounds show up exclusively on expiration [13] and are interrupted during inspiration.
* Unawareness of the problem: Patients usually sleep normally despite the sounds and the effort to breath.[13] However, bed partners and entourage are on one hand disturbed by the emitted noises during their sleep and on the other hand concerned about the pathological meaning of the disease. The latter highlights the importance of reassuring entourage about the benignity of the disease.[6]
* No predisposing factors: No clear predisposing factors or aetiology have been demonstrated.[6]
There are a few other similarities[citation needed]amongst people with catathrenia that have not yet been studied properly:
* Many people with catathrenia mention that they also have some form of stress or anxiety in their lives.[11]
* People with catathrenia themselves do not feel like they are experiencing a sleep apnea; the breath-holding appears to be controlled through the unconscious. Oxygen desaturation during a catathrenia episode is usually negligible.[citation needed]
* Many took part in sports activities during teens and twenties some which required breath-holding which included many types of sports such as swimming and even weight lifting. They find a certain level of comfort in breath-holding, and often do it while awake.[citation needed]
* Observations have been made of instances of breath holding during daily activities that require concentration.
* Some people with catathrenia recalled having lucid or stress dreams during their catathrenia episodes during their sleep.
* Some people with catathrenia complain of having a painful chest upon waking from sleep.
### Discrepancies among reported cases[edit]
* Sound duration: The duration of the sound varies among patients. While the ISCD-2 established limits between 2 and 49 s,[12] authors have described other ranges including short duration as of 0.5 s.[2] Review of reported cases indicates two types of patients whose produced sound can either be short lasting (0.5 to 1.5 s) or longer lasting (2 to 20 s).[7] Nonetheless, it is not clear if the sounds are in fact single long noises fragmented by brief expirations.[6]
* Sound intensity: Patients show a large variability in sound intensity ranging from 40 dB to 120 dB.[14] In addition, sounds can also be long and soft as well as short and loud.[9]
* Onset time of the noise during the night: The ISCD-2 established latency of noises after falling asleep ranging from 2 to 6 h.[12] However, in some published cases the onset time of the noises is reported as being shorter (3 min [15]).
* Association with respiratory disorders.[6]
* Response to continuous positive airway pressure (CPAP) treatment: The response to CPAP treatment partly depends on respiratory disorders. Patients with respiratory dysrhythmia may show poor to no improvements.[6] CPAP in combination with drugs may also obtain unsatisfactory results.[11][16] For other patients there is an excellent response to CPAP treatment (e.g., for young women patients with catathrenia over a 5-year period,[17] patient with OSA and pulmonary hypertension,[15] and others [11]).
* Predominance of REM or NREM: The predominance of REM or NREM sleep during which noises occurs varies from patient to patient.[10] For some cases, a REM predominance has been reported whereas it is the opposite for others. Other reports indicated that sounds may occur at any time during sleep.[14]
## Epidemiology[edit]
It was in 1983 when the first case of catathrenia was described.[18] The disorder is especially rare and many sleep specialists and otolaryngologists are still unfamiliar with this atypical sleep pattern.[4] Catathrenia must be distinguished from moaning during epileptic seizures, central sleep apnea, sleep-related laryngospasm, snoring, and stridor.[5] Since polysomnography alone is insufficient to correctly distinguish catathrenia from central sleep apnea, a video-polysomnography with audio recording is necessary to diagnose catathrenia and avoid mistakes.[5] Despite the fact that the incidence of catathrenia might be underestimated due to misdiagnoses, an institution in Norway has found an incidence of 4 out of 1,004 (0.4%) among patients with sleep and/or wake problems over a 1-year period.[19] A previous study in Japan found an incidence of 25 out of 15,052 (0.17%) among patients with sleep and/or wake problems over a 10-year period.[20]
## Management[edit]
Sleeping in a more upright position seems to lessen catathrenia (as well as sleep apnea).[citation needed] Performing regular aerobic exercise, where steady breathing is necessary (running, cycling etc.) may lessen catathrenia. Strength exercise, on the other hand, may worsen catathrenia because of the tendency to hold one's breath while exercising.[citation needed] Yoga and/or meditation focused on steady and regular breathing may lessen catathrenia.[citation needed]
Some evidence indicate that continuous positive airway pressure can be an effective treatment for catathrenia:[21][22] in a study, the subject using CPAP significantly decreased the sounds typically produced because of the disorder, which almost disappeared.
## References[edit]
1. ^ a b c d Vetrugno, R.; Lugaresi, E.; Plazzi, G.; Provini, F.; D'Angelo, R.; Montagna, P. (2007-11-01). "Catathrenia (nocturnal groaning): an abnormal respiratory pattern during sleep". European Journal of Neurology. 14 (11): 1236–1243. doi:10.1111/j.1468-1331.2007.01954.x. ISSN 1468-1331. PMID 17877735.
2. ^ a b Abbasi, Adnan; Morgenthaler, Timothy I.; Slocumb, Nancy; Tippmann-Peikert, Maja; Olson, Eric; Ramar, Kannan (2012). "Nocturnal moaning and groaning—catathrenia or nocturnal vocalizations". Sleep and Breathing. 16 (2): 367–373. doi:10.1007/s11325-011-0503-3. PMID 21380609.
3. ^ Koo, Dae Lim; Hong, Seung Bong; Joo, Eun Yeon (2012). "Acoustic characteristic of catathrenia and snoring: Different subtypes of catathrenia". Sleep Medicine. 13 (7): 961–964. doi:10.1016/j.sleep.2012.04.002.
4. ^ a b Zaghi, Soroush; Guilleminault, Christian; Chhetri, Dinesh K.; Camacho, Macario; Alonso, Jose (2017-04-15). "Catathrenia (Nocturnal Groaning): A Social Media Survey and State-of-the-Art Review". Journal of Clinical Sleep Medicine. 13 (4): 613–622. doi:10.5664/jcsm.6556. ISSN 1550-9389. PMC 5359339. PMID 28095968.
5. ^ a b c Okura, Mutsumi; Muraki, Hisae (2013-08-01). "WS1-3. Attended video–audio polysomnographic study about patients with catathrenia (sleep related groaning)". Clinical Neurophysiology. 124 (8): e29. doi:10.1016/j.clinph.2013.02.071. ISSN 1388-2457.
6. ^ a b c d e f g Iriarte, Jorge; Campo, Arantza; Alegre, Manuel; Fernández, Secundino; Urrestarazu, Elena (2015-07-01). "Catathrenia: respiratory disorder or parasomnia?". Sleep Medicine. 16 (7): 827–830. doi:10.1016/j.sleep.2014.12.026. ISSN 1389-9457. PMID 26004681.
7. ^ a b Montagna, Pasquale; Ferini-Strambi, Luigi; Lugaresi, Elio; Vetrugno, Roberto (2008-03-01). "Catathrenia (Nocturnal Groaning): What is It?". Sleep. 31 (3): 308–309. doi:10.1093/sleep/31.3.308. ISSN 0161-8105. PMC 2276742.
8. ^ "Why Catathrenia Isn't Taken as Seriously as Other Sleeping Disorders". Zeesnoring. March 2017. Retrieved 7 June 2018.
9. ^ a b Iriarte, J., Campo, A., Alegre, M., Fernández, S., & Urrestarazu, E. (2015). Catathrenia: respiratory disorder or parasomnia?. Sleep medicine, 16(7), 827-830.
10. ^ a b Iriarte, Jorge; Fernández, Secundino; Fernandez-Arrechea, Natalia; Urrestarazu, Elena; Pagola, Inmaculada; Alegre, Manuel; Artieda, Julio (2011-05-01). "Sound analysis of catathrenia: a vocal expiratory sound". Sleep and Breathing. 15 (2): 229–235. doi:10.1007/s11325-010-0420-x. ISSN 1522-1709.
11. ^ a b c d Dias, C.; Sousa, L.; Batata, L.; Teixeira, F.; Moita, J.; Moutinho dos Santos, J. (2017-03-01). "CPAP treatment for catathrenia". Revista Portuguesa de Pneumologia (English Edition). 23 (2): 101–104. doi:10.1016/j.rppnen.2016.12.008. ISSN 2173-5115.
12. ^ a b c The international classification of sleep disorders : diagnostic & coding manual. American Academy of Sleep Medicine. (2nd ed.). Westchester, IL: American Academy of Sleep Medicine. 2005. ISBN 9780965722025. OCLC 67281425.CS1 maint: others (link)
13. ^ a b American Academy of Sleep Medicine. International classification of sleep disorders. 3rd ed. Darien, IL: American Academy of Sleep Medicine; 2014.
14. ^ a b Khaja, Aliuddin M.; Hagen, Chad C.; Guilleminault, Christian (2008-06-01). "Catathrenia is Not Expiratory Snoring". Sleep. 31 (6): 774–775. doi:10.1093/sleep/31.6.774. ISSN 0161-8105.
15. ^ a b Songu, Murat; Yilmaz, Hikmet; Yuceturk, Ali Vefa; Gunhan, Kivanc; Ince, Aysun; Bayturan, Ozgur (2008-11-01). "Effect of CPAP therapy on catathrenia and OSA: a case report and review of the literature". Sleep and Breathing. 12 (4): 401–405. doi:10.1007/s11325-008-0194-6. ISSN 1522-1709.
16. ^ Oldani, A.; Manconi, M.; Zucconi, M.; Castronovo, V.; Ferini‐Strambi, L. (2005). "'Nocturnal groaning': just a sound or parasomnia?". Journal of Sleep Research. 14 (3): 305–310. doi:10.1111/j.1365-2869.2005.00460.x. ISSN 1365-2869.
17. ^ Khaja, Aliuddin M.; Hagen, Chad C.; Guilleminault, Christian (2008-01-01). "Catathrenia: Parasomnia or Uncommon Feature of Sleep Disordered Breathing?". Sleep. 31 (1): 132–139. doi:10.1093/sleep/31.1.132. ISSN 0161-8105.
18. ^ DE ROECK, J (1983). "Sleep-related expiratory groaning : A case report". Sleep Res. 12: 237.
19. ^ Øverland, Britt; Akre, Harriet; Berdal, Hanne; Skatvedt, Olav (2012-01-01). "Sleep-related groaning: Prevalence and characteristics in a cohort of patients with suspected obstructive sleep apnea". Acta Oto-Laryngologica. 132 (1): 90–95. doi:10.3109/00016489.2011.624119. ISSN 0001-6489.
20. ^ Jaar O, Pilon M, Montplaisir J, Zadra A. What is nocturnal groaning (catathrenia)? - analysis of PSG data. Sleep. 2009;32(Abstract Suppl):A290–A291.
21. ^ Iriarte, J., Alegre, M., Urrestarazu, E., Viteri, C., Arcocha, J., & Artieda, J. (2006). Continuous positive airway pressure as treatment for catathrenia (nocturnal groaning). Neurology, 66(4), 609-610.
22. ^ Ortega-Albas, J. J., Diaz, J. R., Serrano, A. L., & de Entrambasaguas, M. (2006). Continuous positive airway pressure as treatment for catathrenia (nocturnal groaning). Neurology, 67(6), 1103-1103.
## External links[edit]
* neurology.org - Catathrenia (nocturnal groaning): A new type of parasomnia
* European Respiratory Journal - Bringing light to the sirens of night: laryngoscopy in catathrenia during sleep
* Catathrenia: Parasomnia or Uncommon Feature of Sleep Disordered Breathing? (PDF available)
* Catathrenia is Not Expiratory Snoring (PDF available)
* Catathrenia (Nocturnal Groaning): What is It? (PDF available)[permanent dead link]
* v
* t
* e
Sleep and sleep disorders
Stages of sleep cycles
* Rapid eye movement (REM)
* Non-rapid eye movement
* Slow-wave
Brain waves
* Alpha wave
* Beta wave
* Delta wave
* Gamma wave
* K-complex
* Mu rhythm
* PGO waves
* Sensorimotor rhythm
* Sleep spindle
* Theta wave
Sleep disorders
Dyssomnia
* Excessive daytime sleepiness
* Hypersomnia
* Insomnia
* Kleine–Levin syndrome
* Narcolepsy
* Night eating syndrome
* Nocturia
* Sleep apnea
* Catathrenia
* Central hypoventilation syndrome
* Obesity hypoventilation syndrome
* Obstructive sleep apnea
* Periodic breathing
* Sleep state misperception
Circadian rhythm
disorders
* Advanced sleep phase disorder
* Cyclic alternating pattern
* Delayed sleep phase disorder
* Irregular sleep–wake rhythm
* Jet lag
* Non-24-hour sleep–wake disorder
* Shift work sleep disorder
Parasomnia
* Bruxism
* Nightmare disorder
* Night terror
* Periodic limb movement disorder
* Rapid eye movement sleep behavior disorder
* Sleepwalking
* Somniloquy
Benign phenomena
* Dreams
* Exploding head syndrome
* Hypnic jerk
* Hypnagogia / Sleep onset
* Hypnopompic state
* Sleep paralysis
* Sleep inertia
* Somnolence
* Nocturnal clitoral tumescence
* Nocturnal penile tumescence
* Nocturnal emission
Treatment
* Sleep diary
* Sleep hygiene
* Sleep induction
* Hypnosis
* Lullaby
* Somnology
* Polysomnography
Other
* Sleep medicine
* Behavioral sleep medicine
* Sleep study
Daily life
* Bed
* Bunk bed
* Daybed
* Four-poster bed
* Futon
* Hammock
* Mattress
* Sleeping bag
* Bed bug
* Bedding
* Bedroom
* Bedtime
* Bedtime story
* Bedtime toy
* Biphasic and polyphasic sleep
* Chronotype
* Dream diary
* Microsleep
* Mouth breathing
* Nap
* Nightwear
* Power nap
* Second wind
* Siesta
* Sleep and creativity
* Sleep and learning
* Sleep deprivation / Sleep debt
* Sleeping while on duty
* Sleepover
* Snoring
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Catathrenia | c1997918 | 28,806 | wikipedia | https://en.wikipedia.org/wiki/Catathrenia | 2021-01-18T19:06:42 | {"umls": ["C1997918"], "icd-9": ["327.49"], "icd-10": ["R06.83"], "wikidata": ["Q2941711"]} |
X-linked dilated cardiomyopathy is a form of heart disease. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with X-linked dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.
X-linked dilated cardiomyopathy is part of a spectrum of related conditions caused by mutations in the DMD gene. The other conditions in the spectrum, Duchenne and Becker muscular dystrophy, are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles) in addition to heart disease. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, X-linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.
## Frequency
X-linked dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.
## Causes
X-linked dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for X-linked dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of X-linked dilated cardiomyopathy.
The mutations that cause X-linked dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles.
Because X-linked dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy.
### Learn more about the gene associated with X-linked dilated cardiomyopathy
* DMD
## Inheritance Pattern
As its name suggests, X-linked dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that appears later in life. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes more severe signs and symptoms that occur earlier in life. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked dilated cardiomyopathy | c3668940 | 28,807 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/ | 2021-01-27T08:24:55 | {"mesh": ["C580047"], "omim": ["302045"], "synonyms": []} |
## Clinical Features
Giedion et al. (1972) described a syndrome termed chronic recurrent multifocal osteomyelitis (CRMO). The inflammation had both subacute and chronic features, with lesions located predominantly in the metaphyses of the long bones. No pathogens were isolated from affected areas.
Multifocal osteomyelitis associated with pustulosis has also been described (see 612852).
Mapping
Golla et al. (2002) genotyped 27 patients with CRMO and their parents, using the markers D18S1148 and D18S60 within the region homologous to the mouse cmo (PSTPIP2; 616046) locus. A significant association of CRMO with a rare allele of marker D18S60 was found, resulting in a haplotype relative risk (HRR) of 18. No pathogenic mutations were detected in the TNFRSF11A (603499) and PIGN (606097) genes, which map to the chromosome 18q21-q22 region. Although the genetic model of CRMO was not clear, the high HRR suggested that the gene underlying the observed association contributes to the etiology of CRMO and concomitantly demonstrated evidence for a genetic basis of CRMO.
Animal Model
Byrd et al. (1991) identified a disorder in mice that had features similar to those described by Giedion et al. (1972). The phenotype was first recognized in mice with tail kinks and deformities of the hindlimbs. Breeding analysis showed that the defect was determined by a single autosomal recessive mutation. RFLP analysis of a linkage backcross indicated that the cmo gene resided on mouse chromosome 18. As in humans, no known pathogen could be isolated from the lesions.
Ferguson et al. (2006) described the CRMO phenotype in the cmo mouse, which includes bone, cartilage, and skin inflammation of the extremities and ears. They identified an L98P mutation in the Pstpip2 gene and suggested that this may be the cause of the autoinflammatory phenotype.
Skel \- Chronic recurrent multifocal osteomyelitis \- Long bone metaphyses predominantly involved Lab \- No pathogens isolated from affected areas \- Subacute and chronic inflammatory histologic features Inheritance \- ? Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS | c0410422 | 28,808 | omim | https://www.omim.org/entry/259680 | 2019-09-22T16:23:51 | {"doid": ["0060645"], "mesh": ["C535456"], "omim": ["259680"], "icd-10": ["M86.30", "M86.3"], "orphanet": ["324964"], "synonyms": ["Alternative titles", "OSTEOMYELITIS, CHRONIC MULTIFOCAL"]} |
A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
## Epidemiology
Global prevalence is not known but population-based studies have been performed and prevalence can be extrapolated at approximately 1/300,000. AVED is the second most frequently inherited cerebellar ataxia in North Africa. As vitamin E deficiency might bring protection against malaria (see this term), it could explain a higher prevalence of AVED in Plasmodium infested areas.
## Clinical description
AVED presents generally between ages 5 and 20 years with variable phenotype and severity. Progressive spino-cerebellar ataxia, areflexia and loss of proprioception, mainly in distal joint position and of vibration sense, induce a noticeable clumsiness and imbalance. Patients may have a characteristic head titubation. Tendon reflexes are dramatically reduced and extensor plantar reflexes are frequent. Cerebellar impairment frequently manifests as dysmetria, dysdiadochokinesia and dysarthria. Decreased visual acuity with retinitis pigmentosa may be seen. In some cases, disease onset is late (> 30 years) and the course is milder. On the contrary, in early-onset cases, the course is more severe, with an increased risk of cardiomyopathy. Overall, the clinical picture of AVED is close to that of Friedreich's ataxia (see this term).
## Etiology
AVED is caused by mutations in the tocopherol (alpha) transfer protein gene (TTPA; 8q13). This protein binds alpha-tocopherol (a vitamin E isomer) and very-low-density lipoproteins (VLDLs) in the liver. When mutated, TTPA prevents vitamin E linking to VLDLs, preventing it to pass into general circulation. Many mutations have been identified, but p.His101Gln and c.744delA are respectively responsible for the late-onset/mild and early-onset/severe forms of the disease.
## Diagnostic methods
Diagnosis is based on physical examination, on vitamin E plasma dosage and on exclusion of known causes of malabsorption. Laboratory findings reveal a very marked deficiency of vitamin E in plasma but normal levels of lipid and lipoprotein profiles. Neuroimaging does not show an obvious cerebellar atrophy in the first stages of the disease. Electromyography usually reveals a pure sensory neuronopathy (ganglionopathy). Molecular analysis confirms the diagnosis.
## Differential diagnosis
Differential diagnosis mainly includes Friedreich ataxia, sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) and abetalipoproteinemia (see these terms). Other autosomal recessive cerebellar ataxias may be considered as well (Refsum disease, ataxia telangiectasia, Charcot-Marie-Tooth disease 1A and ataxia with oculomotor apraxia types 1 and 2 (see these terms)).
## Antenatal diagnosis
Antenatal diagnosis is feasible via molecular genetic testing when the mutation has been identified in the family.
## Genetic counseling
The disease has an autosomal recessive mode of inheritance, with a subsequent recurrence risk of 25%.
## Management and treatment
Treatment is based on a lifelong high-dose vitamin E supplementation, which should be taken every day. When treated early, some symptoms could be reversible; in older patients disease progression can be slowed. It remains unknown whether in families of index cases vitamin E preventive treatment can be administered in presymptomatic individuals to prevent development of AVED.
## Prognosis
Even if treated, patients frequently have a poor prognosis and become wheelchair bound within 8 and 20 years of age.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ataxia with vitamin E deficiency | c1848533 | 28,809 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96 | 2021-01-23T18:48:58 | {"gard": ["8595"], "mesh": ["C535393"], "omim": ["277460"], "umls": ["C1848533"], "icd-10": ["G11.1"], "synonyms": ["AVED", "Ataxia with isolated vitamin E deficiency", "Familial isolated vitamin E deficiency", "Friedreich-like ataxia", "Isolated vitamin E deficiency"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Palmoplantar ectodermal dysplasia" – news · newspapers · books · scholar · JSTOR (September 2019)
Palmoplantar ectodermal dysplasia
SpecialtyDermatology
Palmoplantar ectodermal dysplasia is a cutaneous condition.
Types include:
* Palmoplantar ectodermal dysplasia type 1 or Pachyonychia congenita type I
* Palmoplantar ectodermal dysplasia type 3 or Acrokeratoelastoidosis
* Palmoplantar ectodermal dysplasia type 4 or Papillon–Lefèvre syndrome
* Palmoplantar ectodermal dysplasia type 5 or Tyrosinemia type II
* Palmoplantar ectodermal dysplasia type 6 or Olmsted syndrome
* Palmoplantar ectodermal dysplasia type 8 or Meleda disease
## See also[edit]
* Ectodermal dysplasia
## References[edit]
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Palmoplantar ectodermal dysplasia | None | 28,810 | wikipedia | https://en.wikipedia.org/wiki/Palmoplantar_ectodermal_dysplasia | 2021-01-18T18:43:51 | {"wikidata": ["Q7128425"]} |
Idiopathic pulmonary fibrosis (IPF) is a condition in which tissues in the lungs become thick and stiff, or scarred, over time. The lungs then lose their ability to move oxygen to the brain and other parts of the body. Common symptoms include shortness of breath and a dry, hacking cough. In some cases fibrosis happens quickly, while in others, the process is much slower. Sometimes the disease stays the same for years. The condition is 'idiopathic' because the cause is unknown. When multiple family members are affected, it is called familial IPF. Many people with this condition live for about 3-5 years after the diagnosis. The most common cause of death is respiratory failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Idiopathic pulmonary fibrosis | c0085786 | 28,811 | gard | https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis | 2021-01-18T17:59:50 | {"mesh": ["D011658"], "omim": ["178500"], "orphanet": ["2032"], "synonyms": ["Fibrosing alveolitis, cryptogenic", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis"]} |
A number sign (#) is used with this entry because the ABO blood group system is based on variation in the ABO gene (110300) on chromosome 9q34.2.
Description
The ABO system, discovered in 1900 by Landsteiner (1900), is one of the most important blood group systems in transfusion medicine. The ABO system consists of A and B antigens and antibodies against these antigens. There are 4 major groups in the ABO system (A, B, AB, and O) that result from 3 major alleles (A, B, and O) of the ABO gene (110300). Additional ABO subgroups are produced by dozens of ABO subgroup alleles. The A and B antigens are carbohydrate rather than protein antigens and are synthesized by a series of reactions catalyzed by glycosyltransferases. The final step in their biosynthesis is catalyzed by the A and B glycosyltransferases, which are encoded by the A and B alleles of the ABO gene, respectively. Individuals with blood group O do not produce functional A or B glycosyltransferases and therefore lack A and B antigens. Unlike many other blood group systems, the presence of naturally occurring antibodies against A and B antigens in individuals who do not express those antigens causes an adverse and potentially fatal outcome at the first mismatched transfusion. Because the A and B antigens exist in cells other than red blood cells, ABO matching is also important in cell, tissue, and organ transplantation, and ABO blood groups are important in forensic science (review by Yamamoto, 2004).
Inheritance
In his review, Yamamoto (2004) noted that the A and B alleles of ABO are codominant over the recessive O allele.
Molecular Genetics
Yamamoto et al. (1990) detected bands in Northern hybridization of mRNAs from cell lines expressing A, B, AB, or H antigens, suggesting that sequences of ABO genes have only minimal differences and that the inability of the O gene to encode A or B transferases is probably due to a structural difference rather than to failure of expression of the A or B transferases. Yamamoto et al. (1990) showed that cells of the histo-blood group phenotype O express a message similar to that of A and B alleles. Indeed, they found that the O allele is identical in DNA sequence to the A allele, except for a single-base deletion, 258G, in the coding region close to the N terminus of the protein (110300.0001). The deletion shifts the reading frame, resulting in translation of an entirely different protein. It is therefore unlikely that O individuals express a protein immunologically related to the A and B transferases, which agrees with the absence of crossreacting protein in O cells when specific monoclonal antibody directed toward soluble A transferase is used. Yamamoto et al. (1990) also reported the single-base substitutions responsible for the 4 amino acid substitutions that distinguish the A and B glycosyltransferases. Thus, the ABO polymorphism, discovered by Landsteiner (1900), was finally elucidated 90 years later.
Ugozzoli and Wallace (1992) applied allele-specific PCR to the determination of ABO blood type. Johnson and Hopkinson (1992) showed that one could use PCR followed by denaturing gradient gel electrophoresis (DGGE) for rapid identification of the 6 major ABO genotypes. The procedure also distinguished hitherto undescribed polymorphisms associated with the O and B alleles, thereby elevating the information content of the locus as a genetic marker from 3 to 70%. Its usefulness in the study of disease associations and in forensic identification was also emphasized.
See 110300 for information on possible associations of ABO blood groups with infectious disease susceptibility, pancreatic cancer susceptibility, and blood soluble E-selectin (SELE; 131210) levels.
History
ABO was the first blood group system discovered, by Landsteiner at the beginning of the 20th century (Landsteiner, 1900). The occurrence of natural antibody permitted identification of red cell types by agglutination of red cells when mixed with serum from some but not all other persons. At first the alternative genetic hypotheses were mainly (1) multiple alleles at a single locus, and (2) two loci with two alleles each, one locus determining A and non-A and the other B and non-B. Application of the Hardy-Weinberg principle to population data by Felix Bernstein (1878-1956) and analysis of family data excluded the second alternative and established the former. Crow (1993) reviewed this history. He introduced his review with the following words: 'Accustomed as we now are to thousands of polymorphisms useful as human chromosome markers, it is hard to realize that in the first quarter century of Mendelism there was only one good marker. It is all the more remarkable that its simple mode of inheritance was not understood until the trait had been known for 25 years.'
Developments in the 1950s and 1960s included (1) demonstration of associations between particular disorders (peptic ulcer, gastric cancer, thromboembolic disease) and particular ABO phenotypes, and (2) discovery of the biochemical basis of ABO specificity. It is known that the A and B alleles determine a specific glycosyl-transferring enzyme. The specificity of the enzyme formed by the A allele is to add N-acetylgalactosaminosyl units to the ends of the oligosaccharide chains in the final stages of the synthesis of the ABO blood group macromolecule. The enzyme determined by the B allele may differ from that determined by the A allele by only a single amino acid, but its function is to add D-galactosyl units to the end. The O allele appears to be functionless.
In a manner similar to the elucidation of the origin of the ABO blood groups, the colorblindness polymorphism, which can be said to have been described first by John Dalton in 1798, was elucidated in molecular terms in 1986 (see 303800), and the wrinkled/round polymorphism of the garden pea, which was studied by Mendel (1865), was explained at the molecular level by Bhattacharyya et al. (1990). The wrinkled trait is called 'rugosus' (symbolized r); the pea seeds of RR or Rr genotype are round. Wrinkled seeds lack 1 isoform of starch-branching enzyme (SBEI), present in round seeds. Bhattacharyya et al. (1990) demonstrated that the SBEI gene in the rr genotype is interrupted by a 0.8-kb insertion that appears to be a transposable element. Loss of activity of SBEI leads to reduction in starch synthesis, accompanied by failure to convert amylose to amylopectin. In rr seeds, the levels of free sucrose are higher than in RR seeds, and this apparently leads to the observed higher osmotic pressure and, hence, higher water content. The seeds lose a larger proportion of their volume during maturation, which results in the wrinkled phenotype. See comment by Fincham (1990).
In studies of a familial 15p+ chromosomal variant, Yoder et al. (1974) calculated a lod score of 1.428 at theta 0.32 for linkage between the p+ region and the ABO blood group locus. This suggested linkage to 15p did not subsequently hold up.
Occasionally, an O mother and an AB father may give birth to an AB child. The interpretation is cis-AB, i.e., both alleles on the same chromosome, or an allele with both specificities. Hummel et al. (1977) traced such through 3 generations. Inherited mosaicism in the ABO system consists of a situation in which, in an autosomal dominant pedigree pattern, family members show mosaicism of A cells and O cells, or B cells and O cells. A 'mixed field' agglutination pattern results. This phenotype is probably caused by a weak allele rather than by a modifier gene. Bird et al. (1978) found that in a B-O mosaic family affected persons had low levels of B-specific transferase. A curious feature was that one class of cells had nearly normal B antigen, whereas the second class had none.
Watkins et al. (1981) reviewed the evidence to refute the arguments that the genes coding for the A antigen-associated alpha-3-N-acetyl-D-galactosaminyltransferase and the B antigen-associated alpha-3-D-galactosyltransferase are not allelic. They suggested that the final answer may need to await the isolation of the pure enzymes in sufficient quantities for amino acid sequencing and examination of the active sites (or, one might add, sequencing of the genes themselves). The demonstration of immunologic homology of the 2 transferases indicates that the differences in structure of the 2 enzymes are relatively small and hence not incompatible with those to be expected of the products of allelic genes. Yoshida et al. (1982) concluded that the blood group A allele can take any of 3 common forms, A1, A2, and Aint (for intermediate), each determining a different type of blood group GalNAc transferase.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| BLOOD GROUP, ABO SYSTEM | None | 28,812 | omim | https://www.omim.org/entry/616093 | 2019-09-22T15:49:57 | {"omim": ["616093"], "synonyms": ["Alternative titles", "ABO BLOOD GROUP SYSTEM"]} |
Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss. The cause of NMOSD is unknown. It occurs when the body's immune system mistakenly attacks healthy cells in the spinal cord and eyes. It can be diagnosed by a clinical exam, MRI looking for specific signs, and blood tests looking for certain antibodies. Treatment is focused on managing the symptoms and preventing relapses.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Neuromyelitis optica spectrum disorder | c0027873 | 28,813 | gard | https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica-spectrum-disorder | 2021-01-18T17:58:44 | {"mesh": ["D009471"], "umls": ["C0027873"], "orphanet": ["71211"], "synonyms": ["Devic syndrome", "NMO", "Devic's neuromyelitis optica", "Devic disease", "NMO spectrum disorder", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorders"]} |
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Trisomy 1q | c4708596 | 28,814 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261344 | 2021-01-23T17:45:38 | {"icd-10": ["Q92.2"], "synonyms": ["Duplication 1q"]} |
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hyper-IgM syndrome without susceptibility to opportunistic infections | c1720956 | 28,815 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183666 | 2021-01-23T17:40:31 | {"mesh": ["D053306"], "omim": ["605258", "608106", "608184"], "icd-10": ["D80.5"], "synonyms": ["HIGM without susceptibility to opportunistic infections"]} |
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autosomal dominant prognathism | c0399526 | 28,816 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2964 | 2021-01-23T17:04:28 | {"mesh": ["D008313"], "omim": ["176700"], "icd-10": ["K07.1"]} |
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hidrotic ectodermal dysplasia, Christianson-Fourie type | c1832411 | 28,817 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1808 | 2021-01-23T17:56:14 | {"gard": ["2682"], "mesh": ["C536180"], "omim": ["601375"], "umls": ["C1832411"], "icd-10": ["Q82.8"], "synonyms": ["Christianson-Fourie syndrome"]} |
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | c4539778 | 28,818 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506334 | 2021-01-23T18:42:30 | {"omim": ["617575"], "synonyms": ["Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency"]} |
For the village in Myanmar, see Myoma, Mingin. For first national high school in Rangoon, Burma, see Basic Education High School No. 2 Dagon.
Myoma
Uterine fibroids
SpecialtyOncology
Myomas are types of tumors that involve muscle cells.[1] There are two main types:
* Leiomyoma which occur in smooth muscle.[1] They most commonly occur as uterine fibroid, they may also form in other locations.
* Rhabdomyomas which occur in striated muscle.[1][2][3] They are rare tumors, occur in childhood and often become malignant.
Whether or not angiomyomas are a type of leiomyoma or a separate entity is disputed as of 2014.[3]
## References[edit]
1. ^ a b c Ziegler, Ernst (1883). A Text-book of pathological anatomy and pathogenesis pt. 1, 1883. William Wood & Company. p. 210.
2. ^ "MeSH Browser". meshb.nlm.nih.gov. Retrieved 9 November 2020.
3. ^ a b Rajendran, Arya; Sivapathasundharam, B. (2014). Shafer's Textbook of Oral Pathology. Elsevier Health Sciences. p. 193. ISBN 978-81-312-3800-4.
## External links[edit]
Classification
D
* ICD-10: D21
* ICD-9-CM: [1]
* ICD-O: M8895/3
* MeSH: D009214
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Myoma | c0027086 | 28,819 | wikipedia | https://en.wikipedia.org/wiki/Myoma | 2021-01-18T19:00:37 | {"mesh": ["D009214"], "umls": ["C0027086"], "wikidata": ["Q1941101"]} |
A number sign (#) is used with this entry because of evidence that Amish lethal microcephaly, also known as thiamine metabolism dysfunction syndrome-3 (THMD3), is caused by homozygous mutation in the SLC25A19 gene (606521) on chromosome 17q25.
Thiamine metabolism dysfunction syndrome-4 (THMD4; 613710) is an allelic disorder with a milder phenotype.
Description
Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis and alpha-ketoglutaric aciduria (summary by Kelley et al., 2002).
For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).
Clinical Features
Kelley et al. (2002) described a metabolic disorder among the Old Order Amish of Lancaster County, Pennsylvania, characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria. The disorder segregated as an autosomal recessive and had the unusually high incidence of at least 1 in 500 births. When the infants were well, urine organic acid profiles showed isolated, extreme elevations of 2-ketoglutaric acid. However, during otherwise simple viral illnesses, the infants often developed metabolic acidosis, which sometimes followed a lethal course. Cranial MRI of 1 patient showed a smooth, immature brain similar to that of a 20-week fetus except for a moderate degree of cerebellar vermal hypoplasia. Assay of 2-ketoglutarate dehydrogenase (613022) in cultured lymphoblasts of 1 patient showed normal activity.
Rosenberg et al. (2002) stated that at least 61 affected infants had been born in the previous 40 years in 23 nuclear families. Affected individuals had head circumferences that were 6 to 12 SD less than the population mean.
Siu et al. (2010) reported a male infant with Amish microcephaly. He was born of distantly related parents in Ontario, Canada, who had Amish ancestors. Microcephaly was first noted at 21 weeks' gestation. At birth, he showed severe microcephaly, a sloping forehead, and extremely small anterior fontanel. He had truncal hypotonia with hypertonia of the extremities, spontaneous myoclonic jerks, and optic nerve atrophy with foveal hypoplasia. He exhibited extreme irritability and developed failure to thrive. Brain MRI showed partial agenesis of the corpus callosum, large cisterna magna communicating with the fourth ventricle, enlarged lateral ventricles, hypoplastic cerebellar vermis, and lissencephaly. He also had spinal dysraphism and osteopenia. The patient was alive at 7 years, with a static microcephaly, profound developmental delay, and metabolic lactic acidosis controlled by a high fat diet. Genetic analysis confirmed the diagnosis by finding the same G177A mutation (606521.0001) observed in other Amish patients with the disorder.
Biochemical Features
In the patient with MCPHA reported by Siu et al. (2010), lactic acidosis was present from birth, but urinary alpha-ketoglutarate did not appear until age 8 months, even during metabolic crisis. After institution of a high-fat diet, lactate decreased and urinary alpha-ketoglutarate increased. These findings indicated that increased urine alpha-ketoglutaric acid is not a constant feature of MCPHA. Siu et al. (2010) noted that, since mutations in the SLC25A19 gene result in a thiamine deficiency, these biochemical characteristics could be explained by deficient activities of 2 of the 3 mitochondrial thiamine-requiring enzymes, pyruvate dehydrogenase (PDC) and alpha-ketoglutaric acid dehydrogenase. During metabolic crisis, there is reduced PDC activity, resulting in lactic acidosis and less acetyl-CoA entering the citric acid cycle, with decreased production of alpha-ketoglutarate. Later accumulation of alpha-ketoglutarate may occur because thiamine deficiency reduces alpha-ketoglutaric acid dehydrogenase activity.
Clinical Management
Siu et al. (2010) reported that their patient with MCPHA was treated successfully with a high-fat diet, which likely provided energy in mitochondria primarily through fatty acid beta-oxidation, bypassing pyruvate dehydrogenase to directly enter the tricarboxylic acid cycle. Importantly, the metabolic similarity of MCPHA to pyruvate dehydrogenase deficiency (see, e.g., 312070) indicates that glucose should be administered with caution to patients with MCPHA to avoid a risk of exacerbating the lactic acidemia.
Mapping
Through a whole-genome scan, fine mapping, and haplotype analysis, Rosenberg et al. (2002) mapped a locus for Amish microcephaly to a region of 2 Mb on chromosome 17q25.
Molecular Genetics
Rosenberg et al. (2002) identified a list of positional candidate genes, comprising 7 full-length cDNAs, 3 EST clusters, and 11 predicted genes. The authors reasoned that because alpha-ketoglutarate is a component of the Krebs cycle, the alpha-ketoglutarate abnormality in MCPHA could be an indication of mitochondrial dysfunction. Two of the genes on the list of candidates, SLC25A19 and ATP5H (ATP5PD; 618121), encode proteins with known mitochondrial functions and therefore were particularly attractive candidates. The coding region of the ATP5H gene was normal, but Rosenberg et al. (2002) identified a homozygous nucleotide change in the coding region of SLC25A19 gene in an affected child (G177A; 606521.0001).
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, extreme Face \- Micrognathia ABDOMEN Liver \- Hepatomegaly associated with infection SKELETAL \- Contractures Skull \- Nearly absent cranial vault \- Absence of anterior and posterior fontanelles NEUROLOGIC Central Nervous System \- No psychomotor development \- Truncal hypotonia \- Limb hypertonia \- Immature brain with no gyral development \- Hypoplastic pons \- Partial agenesis of the corpus callosum \- Hypoplastic cerebellum Behavioral Psychiatric Manifestations \- Irritability METABOLIC FEATURES \- Lactic acidosis during infection LABORATORY ABNORMALITIES \- Increased urinary 2-ketoglutarate (variable) \- Increased urinary lactate MISCELLANEOUS \- Onset at birth \- Progression of the disorder is precipitated by viral symptoms \- Death usually within first year of life \- Incidence of 1 in 480 among Old Order Amish \- Carrier rate of 1 in 11 among Old Order Amish MOLECULAR BASIS \- Caused by mutation in the solute carrier family 25, member 19 gene (mitochondrial thiamine pyrophosphate carrier) (SLC25A19, 606521.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROCEPHALY, AMISH TYPE | c1846648 | 28,820 | omim | https://www.omim.org/entry/607196 | 2019-09-22T16:09:33 | {"mesh": ["C538247"], "omim": ["607196"], "orphanet": ["99742"], "synonyms": ["Alternative titles", "AMISH LETHAL MICROCEPHALY", "THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)"], "genereviews": ["NBK1365"]} |
X-linked intellectual disability
Other namesX-linked mental retardation
SpecialtyNeurology, medical genetics
X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.
As with most X-linked disorders, males are more heavily affected than females.[1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood.[2][3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified.[4] Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition.[5][6]
X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.
## Contents
* 1 Syndromes
* 2 List of genes
* 3 See also
* 4 References
* 5 External links
## Syndromes[edit]
Several X-linked syndromes include intellectual disability as part of the presentation. These include:
* Coffin–Lowry syndrome
* MASA syndrome
* MECP2 duplication syndrome
* X-linked alpha thalassemia mental retardation syndrome
* mental retardation and microcephaly with pontine and cerebellar hypoplasia
## List of genes[edit]
Following is a list of genes located on the X chromosome and linked to intellectual disability. There are also several loci that have not been associated with a specific gene.
* IQSEC2: encodes an exchange factor for the Arf family of small GTP binding proteins, involved in the formation of secretory vesicles.[7]
* TM4SF2: is a member of the 4 transmembrane domains family of proteins (tetraspanins, see TSPAN7). This gene is also associated with neuropsychiatric diseases such as Huntington's chorea.[8]
* AP1S2: AP-1 complex subunit sigma-2.[9][10] Adaptor protein complex 1 is found on the cytoplasmic face of vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors.
* ACSL4: Long-chain-fatty-acid—CoA ligase 4 is an enzyme of the long-chain fatty-acid-coenzyme A ligase family. It converts free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation.[11] This isozyme preferentially utilizes arachidonate as substrate.
* ZNF41: Zinc finger protein 41 is a likely zinc finger family transcription factor.[12]
* DLG3: Disks large homolog 3, also named neuroendocrine-DLG or synapse-associated protein 102 (SAP-102).[13] DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfamily.
* FTSJ1: Transfert RNA methyltransferase 1 is a member of the S-adenosylmethionine-binding protein family. This nucleolar protein is involved in the processing and modification of tRNA.[14][15]
* GDI1: RabGDI alpha makes a complex with geranylgeranylated small GTP-binding proteins of the Rab family and keeps them in the cytosol.
* MECP2: methyl CpG binding protein 2 is a transcription regulator, which represses transcription from methylated gene promoters. It appears to be essential for the normal function of nerve cells.[16] In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women.
* ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. Mutations in this gene cause X-linked intellectual disability and epilepsy.[17]
* KDM5C: Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling.[18]
* PHF8: PHD finger protein 8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases,[19] and is a histone lysine demethylase with selectivity for the di-and monomethyl states.[20]
* FMR2: Fragile mental retardation 2 (FMR2: synonym AFF2),[21] the protein belongs to the AFF family which currently has four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31.[22] All AFF proteins are localized in the nucleus and have a role as transcriptional activators with a positive action on RNA elongation. AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31 localize in nuclear speckles (subnuclear structures considered to be storage/modification sites of pre-mRNA splicing factors) and are able to bind RNA with a high apparent affinity for the G-quadruplex structure. They appear to modulate alternative splicing via the interaction with the G-quadruplex RNA-forming structure.
* Slc6a8: Creatine transporter is a protein that is required for creatine to enter the cell. Creatine is essential for maintaining ATP levels in cells with a high energy demand.[23]
* GSPT2[24]
* MAGED1[25]
## See also[edit]
* Xp11.2 Duplication
## References[edit]
1. ^ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth Defect Information Systems. Retrieved 2010-12-10.
2. ^ Ropers, H. -H.; Hamel, B. C. J. (2005). "X-linked mental retardation". Nature Reviews Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421.
3. ^ Lugtenberg, D.; Veltman, J. A.; Van Bokhoven, H. (2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine. 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643.
4. ^ Stevenson, R. E.; Schwartz, C. E. (2009). "X-linked intellectual disability: Unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
5. ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09.
6. ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-09.
7. ^ Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nat. Genet. 42 (6): 486–8. doi:10.1038/ng.588. PMC 3632837. PMID 20473311.
8. ^ Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (Jun 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet. 39 (6): 430–3. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
9. ^ Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL (Dec 2006). "Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation". Am J Hum Genet. 79 (6): 1119–24. doi:10.1086/510137. PMC 1698718. PMID 17186471.
10. ^ "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit".
11. ^ Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A (Apr 1998). "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation". Genomics. 47 (3): 350–8. doi:10.1006/geno.1997.5104. PMID 9480748.
12. ^ Franze A, Archidiacono N, Rocchi M, Marino M, Grimaldi G (Jul 1991). "Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome". Genomics. 9 (4): 728–36. doi:10.1016/0888-7543(91)90367-N. PMID 2037297.
13. ^ Stathakis DG, Lee D, Bryant PJ (Aug 1998). "DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1". Genomics. 49 (2): 310–3. doi:10.1006/geno.1998.5243. PMID 9598320.
14. ^ Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF (Sep 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)". J Med Genet. 41 (9): 679–83. doi:10.1136/jmg.2004.019000. PMC 1735884. PMID 15342698.
15. ^ Guy, MP & Phizicky, EM. (Oct 2014). "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes". RNA. 21 (1): 61–74. doi:10.1261/rna.047639.114. PMC 4274638. PMID 25404562.
16. ^ Chahrour M, et al. (2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–9. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
17. ^ Bienvenu T, Poirier K, Friocourt G, et al. (2003). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Hum. Mol. Genet. 11 (8): 981–91. doi:10.1093/hmg/11.8.981. PMID 11971879.
18. ^ Jensen LR (2005). "Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation". Am. J. Hum. Genet. 76 (2): 227–36. doi:10.1086/427563. PMC 1196368. PMID 15586325.
19. ^ Loenarz, C.; Schofield, C. J. (2008). "Expanding chemical biology of 2-oxoglutarate oxygenases". Nat. Chem. Biol. 4 (3): 152–156. doi:10.1038/nchembio0308-152. PMID 18277970.
20. ^ Loenarz, C.; Ge, W.; Coleman, M. L.; Rose, N. R.; Cooper, C. D. O.; Klose, R. J.; Ratcliffe, P. J.; Schofield, C. J. (2009). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N{varepsilon}-dimethyl lysine demethylase". Hum. Mol. Genet. 19 (2): 217–22. doi:10.1093/hmg/ddp480. PMC 4673897. PMID 19843542.
21. ^ Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". Am. J. Med. Genet. A. 155A (8): 2003–7. doi:10.1002/ajmg.a.34122. PMID 21739600.
22. ^ Melko M, Douguet D, Bensaid M, et al. (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability". Hum. Mol. Genet. 20 (10): 1873–85. doi:10.1093/hmg/ddr069. PMID 21330300.
23. ^ Cecil, KM; Salomons, GS; Ball, WS, Jr; Wong, B; Chuck, G; Verhoeven, NM; Jakobs, C; DeGrauw, TJ (Mar 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of Neurology. 49 (3): 401–4. doi:10.1002/ana.79. PMID 11261517.
24. ^ Grau, Christina; Starkovich, Molly; Azamian, Mahshid S.; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R.; Scott, Daryl A. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
25. ^ Grau, Christina; Starkovich, Molly; Azamian, Mahshid S.; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R.; Scott, Daryl A. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
## External links[edit]
Classification
D
* MeSH: D038901
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)
Arrestin
* Oguchi disease 1
Myelin
* Pelizaeus–Merzbacher disease
* Dejerine–Sottas disease
* Charcot–Marie–Tooth disease 1B, 2J
Pulmonary surfactant
* Surfactant metabolism dysfunction 1, 2
Cell adhesion molecule
IgSF CAM:
* OFC7
Cadherin:
* DSG1
* Striate palmoplantar keratoderma 1
* DSG2
* Arrhythmogenic right ventricular dysplasia 10
* DSG4
* LAH1
* DSC2
* Arrhythmogenic right ventricular dysplasia 11
Integrin:
* cell surface receptor deficiencies
Tetraspanin
* TSPAN7
* X-Linked mental retardation 58
* TSPAN12
* Familial exudative vitreoretinopathy 5
Other
* KIND1
* Kindler syndrome
* HFE
* HFE hereditary haemochromatosis
* DYSF
* Distal muscular dystrophy
* Limb-girdle muscular dystrophy 2B
See also other cell membrane proteins
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis
2.2
* Barakat syndrome
* Tricho–rhino–phalangeal syndrome
2.3
* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2
2.5
* Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains
3.1
* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome
3.2
* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3
3.3
* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
* v
* t
* e
Inherited disorders of trafficking / vesicular transport proteins
Vesicle formation
Lysosome/Melanosome:
* HPS1–HPS7
* Hermansky–Pudlak syndrome
* LYST
* Chédiak–Higashi syndrome
COPII:
* SEC23A
* Cranio-lenticulo-sutural dysplasia
* COG7
* CDOG IIE
APC:
* AP1S2
* X-linked intellectual disability
* AP3B1
* Hermansky–Pudlak syndrome 2
* AP4M1
* CPSQ3
Rab
* ARL6
* BBS3
* RAB27A
* Griscelli syndrome 2
* CHM
* Choroideremia
* MLPH
* Griscelli syndrome 3
Cytoskeleton
Myosin:
* MYO5A
* Griscelli syndrome 1
Microtubule:
* SPG4
* Hereditary spastic paraplegia 4
Kinesin:
* KIF5A
* Hereditary spastic paraplegia 10
Spectrin:
* SPTBN2
* Spinocerebellar ataxia 5
Vesicle fusion
Synaptic vesicle:
* SNAP29
* CEDNIK syndrome
* STX11
* Hemophagocytic lymphohistiocytosis 4
Caveolae:
* CAV1
* Congenital generalized lipodystrophy 3
* CAV3
* Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
Vacuolar protein sorting:
* VPS33B
* ARC syndrome
* VPS13B
* Cohen syndrome
* DYSF
* Distal muscular dystrophy
See also vesicular transport proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked intellectual disability | c1136249 | 28,821 | wikipedia | https://en.wikipedia.org/wiki/X-linked_intellectual_disability | 2021-01-18T19:04:03 | {"mesh": ["D038901"], "orphanet": ["98464"], "synonyms": [], "wikidata": ["Q8041560"]} |
Health issue in India
tuberculosis patient
Tuberculosis in India is includes all experience, culture, and health response which India has with the disease tuberculosis. Tuberculosis in India is a major health problem causing about 220,000 deaths every year. The cost of the death and disease in the Indian economy between 2006 and 2014 was approximately USD 1 billion.[1]
Despite the historical challenges, the technology and health care for treating tuberculosis have improved. In 2020 the Indian government made bold statements to eliminate TB from the country by 2025 through its National TB Elimination Program. Interventions in this program include major investment in health care, providing supplemental nutrition credit through the Nikshay Poshan Yojana, organizing a national epidemiological survey for tuberculosis, and organizing a national campaign to tie together the Indian government and private health infrastructure for the goal of eliminating TB.
India bears a disproportionately large burden of the world's tuberculosis rates, as it continues to be the biggest health problem in India. India is the highest TB burden country with World Health Organization (WHO) statistics for 2011 giving an estimated incidence figure of 2.2 million cases of TB for India out of a global incidence of 9.6 million cases.[2]
Tuberculosis is India's biggest health issue, but what makes this issue worse is the recently discovered phenomenon of TDR-TB \- Totally Drug-Resistant Tuberculosis. This issue of drug-resistant TB began with MDR-TB, and moved on to XDR-TB. Gradually, the most dangerous form has situated itself in India as TDR-TB.
## Contents
* 1 Epidemiology
* 2 Symptoms
* 3 Causes
* 3.1 Socioeconomic Dimensions of TB
* 3.2 Lack of infrastructure
* 3.3 Access to treatment
* 3.4 Poor health
* 4 Treatment
* 5 History
* 5.1 After Independence
* 5.2 Global participation
* 6 Society and culture
* 6.1 Organizations
* 6.2 Stigma
* 6.3 Economics
* 7 Special populations
* 8 References
* 9 Further consideration
* 10 External links
## Epidemiology[edit]
Children have special needs both in preventing and treating tuberculosis.
Tuberculosis is one of India's major public health problems. According to WHO estimates, India has the world's largest tuberculosis epidemic.[3] Many research studies have shown the effects and concerns revolving around TDR-TB, especially in India; where social and economic positions are still in progression. In Zarir Udwadia’s report originated from the Hinduja Hospital in Mumbai, India explicitly discusses the drug-resistant effects and results.[4] An experiment was conducted in January, 2012 on four patients to test how accurate the “new category” of TDR-TB is. These patients were given all the first-line drugs and second-line drugs that usually are prescribed to treat TB, and as a result, were resistant to all. As a response, the government of India had stayed in denial, but WHO took it as a more serious matter and decided that although the patterns of drug-resistance were evident, they cannot rely on just that to create a new category of TDR-TB.
Compared to India, Canada has about 1,600 new cases of TB every year.[5] Citing studies of TB-drug sales, the government now suggests the total went from being 2.2 million to 2.6 million people nationwide.[6] On March 24, 2019, TB Day, the Ministry of Health & Family Welfare of India notified that 2.15 million new tuberculosis patients has discovered only in 2018.[7]
In India, TB is responsible for the death of every third AIDS patient. moreover, India accounts for about a quarter of the Global TB Burden.[7] The ministry reiterated their commitment to eliminating TB in the country by 2025.[7] As part of its efforts to eliminate Tuberculosis, the Union government changed the name of Revised National Tuberculosis Control Program (RNTCP) to National Tuberculosis Elimination Program (NTEP) on December 30, 2019.[8]
## Symptoms[edit]
The bacterium that causes TB is called Mycobacterium tuberculosis. Inactive tuberculosis means that one can even unconsciously and unknowingly acquire the bacteria for tuberculosis within them but not even know about it because it is inactive. Whereas, active tuberculosis is the start of the bacteria developing, and the signs and symptoms begin to be visible. This is when tuberculosis is active within you, and is a serious issue leading to even more serious results. Although the TB bacteria can infect any organ (e.g., kidney, lymph nodes, bones, joints) in the body, the disease commonly occurs in the lungs.[5] Around 80% of all TB cases are related to pulmonary or lung.
Common symptoms include: coughing (that lasts longer than 3 weeks with green, yellow, or bloody sputum), weight loss, fatigue, fever, night sweats, chills, chest pain, shortness of breath, and loss of appetite.
## Causes[edit]
Scanning electron micrograph of Mycobacterium tuberculosis
There is a specific bacterium that evolves inside the body to result in tuberculosis, known as mycobacterium tuberculosis. This bacterium is only spread throughout the body when a person has an active TB infection. One of many causes of acquiring TB is living a life with a weak immune system; everything becomes fragile, and an easy target. That is why babies, children, and senior adults have a higher risk of adapting TB.[5] The bacterium spreads in the air sacs, and passes off into the lungs, resulting in an infected immune system.
In addition, coughing, sneezing, and even talking to someone can release the mycobacterium into the air, consequently affecting the people breathing this air. It has been stated that your chances of becoming infected are higher if you come from – or travel to – certain countries where TB is common, and where there is a big proportion of homeless people.[5] India, having the most TB cases of any country[9] falls under this cause because it stands recognized as consuming a higher chance of gaining TB.
### Socioeconomic Dimensions of TB[edit]
Those listed are all the bodily and personal causes of acquiring TB, but decreases in tuberculosis in India incidence are correlated with improvements in social and economic determinants of health moreso than with access to quality treatment.[10] In India, TB occurs at high rates because of the pollution dispersed throughout the country. Pollution causes many effects in the air the people breathe there, and since TB can be gained through air, the chances of TB remain high and in a consistent movement going uphill for India[citation needed].
### Lack of infrastructure[edit]
Another major cause for the growth of TB in India has to do with it currently still standing as a developing country. Because its economy is still developing, the citizens are still fighting for their rights, and the structure of the country lies in poor evidence that it is not fit as other countries still. A study of Delhi slums has correlated higher scores on the Human Development Index and high proportions of one-room dwellings tended to incur TB at higher rates.[11] Poor built environments, including hazards in the workplace, poor ventilation, and overcrowded homes have also been found to increase exposure to TB [10]
### Access to treatment[edit]
TB rises high in India because of the majority of patients are not able to afford the treatment drugs prescribed. “At present, only the 1.5 million patients already under the Indian government's care get free treatments for regular TB. That leaves patients who seek treatment in India's growing private sector to buy drugs for themselves, and most struggle to do that, government officials say.”[6] Although the latest phase of state-run tuberculosis eradication program, the Revised National Tuberculosis Control Program, has focused on increasing access to TB care for poor people,[9] the majority of poor people still cannot access TB care financially.[12]
Consequently, high priced treatment drugs and the struggles of “poor patients” also brawl through the poor treatment they receive in response to acquiring TB. “It is estimated that just 16% of patients with drug-resistant TB are receiving appropriate treatment”.[13] To combat this huge problem, India has instated a new program to try to provide free drugs to all those infected in the country.[6]
While RNTCP has created schemes to offer free or subsidized, high quality TB care, less than 1% of private practitioners have taken up these practices.[12] Lastly, as high pricing is linked to the economic standings of India, which is linked to poor treatment, it all underlines the lack of education and background information practitioners and professionals hold for prescribing drugs, or those private therapy sessions. A study conducted in Mumbai by Udwadia, Amale, Ajbani, and Rodrigues, showed that only 5 of 106 private practitioners practicing in a crowded area called Dharavi could prescribe a correct prescription for a hypothetical patient with MDR tuberculosis.[14] Because the majority of TB cases are addressed by private providers, and because the majority of poor people access informal (private) providers, the RNTCP's goals for universal access to TB care have not been met.[12]
### Poor health[edit]
Poverty and lacking financial resources are also associated with malnutrition, poor housing conditions, substance use, and HIV/AIDS incidence. These factors often cause immunosuppression, and are accordingly correlated with higher susceptibility to TB;[10] they also tend to have greater impacts on people from high incidence countries such as India than lower incidence countries.[15] Indeed, addressing these factors may have a stronger correlation with decreased TB incidence than the decreasing financial burdens associated with care.[10] Yet, the RNTCP's treatment protocols do not address these social determinants of health.[10]
## Treatment[edit]
Treatment in India is on the rise just as the disease itself is on the rise. To prevent spreading TB, it's important to get treatment quickly and to follow it through to completion by your doctor. This can stop transmission of the bacteria and the appearance of antibiotic-resistant strains. It is a known fact that bacterial infections require antibiotics for treatment and prevention, thus, commonly you will see that patients diagnosed with tuberculosis have certain pills and antibiotics carried around with them. The antibiotics most commonly used include isoniazid, rifampin, pyrazinamide, and ethambutol. It is crucial to take your medication as instructed by your doctor, and for the full course of the treatment (months or years). This helps to ward off types of TB bacteria that are antibiotic-resistant, which take longer and are more difficult to treat.[5] In India’s case, the particular type of TB infections are majority resistant to regular antibiotic treatment (MDR-TB, XDR-TB, TDR-TB), therefore, not one or two medications will help, rather a combination of different medications must be taken for over a course of 18–24 months, depending on how deep the infection is. Since the 1960s, two drugs — isoniazid and rifampicin — have been the standard TB treatment.[13] In addition to antibiotics, a vaccine is available to limit the spread of bacteria after TB infection. The vaccine is generally used in countries or communities where the risk of TB infection is greater than 1% each year,[5] thus, the country of India; whose TB infection rate is at a peak (world’s third highest TB infected country), and is consistently growing, and giving 20% of the world’s diagnosed patients a home.[13] At present the anti TB treatment offered in public and private sector in India is not satisfactory and needs to be improved.[citation needed] Today India's TB control program needs to update itself with the international TB guidelines as well as provide an optimal anti TB treatment to the patients enrolled under it or it will land up being another factor in the genesis of drug-resistant tuberculosis.[16]
## History[edit]
India's response to TB has changed with time and technology.[17] One way to divide responses to TB are the activities from the time from pre-independence, post-independence and current WHO-assisted period.[17]
### After Independence[edit]
After Independence the Indian government established various regional and national TB reduction programmes.[17]
### Global participation[edit]
The contemporary response to TB includes India's participation and leadership in global TB reduction and elimination programs.[17]
The Indian government’s Revised National TB Control Programme (RNTCP) started in India during 1997. The program uses the WHO-recommended Directly Observed Treatment Short Course (DOTS) strategy to develop ideas and data on TB treatment. This group’s initial objective is to achieve and maintain a TB treatment success rate of at least 85% in India among new patients.[18] “In 2010 the RNTCP made a major policy decision that it would change focus and adopt the concept of Universal Access to quality diagnosis and TB treatment for all TB patients”.[19] By doing so, they extend out a helping hand to all people diagnosed with TB, and in addition, provide better quality services and improve on therapy for these patients.
Treatment recommendations from Udwadia, et al. suggest that patients with TDR-TB only be treated “within the confines of government-sanctioned DOTS-Plus Programs to prevent the emergence of this untreatable form of tuberculosis”.[13] As this confirming result of hypothesis is at a conclusion by Udawadai, et al., it is given that the new Indian government program will insist on providing drugs free of charge to TB patients of India, for the first time ever.[6]
## Society and culture[edit]
### Organizations[edit]
The Tuberculosis Association of India is a voluntary organization. It was set up in February 1939. It is also affiliated to the Govt. of India & is working with TB Delhi center.[20]
The Revised National Tuberculosis Control Program (RNTCP) has established a network of laboratories where TB tests can be done to diagnose people who have TB. There are also tests that can be done to determine whether a person has drug-resistant TB.
The laboratory system comprises National Reference Laboratories (NRLs), state level Intermediate Reference Laboratories (IRLs), Culture & Drug Susceptibility Testing (C & DST) laboratories and Designated Microscopy Centres (DMCs). Some of Private lab also Accredited for Culture & Drug Susceptibility Testing for M.tuberculosis (i.e Microcare Laboratory & tuberculosis Research Centre, Surat)
### Stigma[edit]
Disempowerment and stigma are often felt by TB patients as they are disproportionately impoverished or socially marginalized.[21] The DOTS treatment regimen of the RNTCP is thought to deepen this sentiment,[22] as its close monitoring of patients can decrease patient autonomy. To counteract disempowerment, some countries have engaged patients in the process of implementing the DOTS and in creating other treatment regimens that adhere to their nonclinical needs. Their knowledge can inform valuable complements[23] the clinical care provided by the DOTS. Pro-poor strategies, including wage compensation for time lost to treatment, working with civil society organizations to link low income patients to social services, nutritional support, and offering local NGOs and committees a platform for engagement with the work done by private providers may reduce the burden of TB[24] and leads to greater patient autonomy.
### Economics[edit]
Some legal advocates have argued that public interest litigation in India must be part of the TB response strategy to ensure that available resources actually fund the necessary health response.[25]
India has a large burden of the world's TB, with an estimated economic loss of US $43 billion and 100 million lost annually directly due to this disease.[26]
## Special populations[edit]
The most certain knowledge about how Scheduled Tribes and other Adivasi experience TB is that there is a lack of research and understanding of the health of this demographic.[27][28] There is recognition that this community is more vulnerable and has less access to treatment, but details are lacking on how TB affects tribal communities.[27][28]
## References[edit]
1. ^ World Health Organization (2009). "Epidemiology". Global tuberculosis control: epidemiology, strategy, financing. pp. 6–33. ISBN 978-92-4-156380-2. Retrieved 14 June 2020.
2. ^ TB Statistics for India. (2012). TB Facts. Retrieved April 3, 2013, from http://www.tbfacts.org/tb-statistics-india.html
3. ^ WHO. Global tuberculosis control. WHO report. WHO/HTM/TB/2006.362. Geneva: World Health Organization, 2006.
4. ^ Udwadia, Zarir; Vendoti, Deepesh (2013). "Totally drug-resistant tuberculosis (TDR-TB) in India: Every dark cloud has a silver lining". Journal of Epidemiology and Community Health. 67 (6): 471–472. doi:10.1136/jech-2012-201640. PMID 23155059. S2CID 42481569.
5. ^ a b c d e f Tuberculosis - Causes, Symptoms, Treatment, Diagnosis. (2013). C-Health. Retrieved April 3, 2103, from http://chealth.canoe.ca/channel_condition_info_details.asp?disease_id=231&channel_id=1020&relation_id=71085
6. ^ a b c d Anand, Geeta; McKay, Betsy (26 December 2012). "Awakening to Crisis, India Plans New Push Against TB". Wall Street Journal.
7. ^ a b c "India records 2.15m new TB patients in 2018". The Nation. 2019-03-26. Retrieved 2019-03-27.
8. ^ AuthorTelanganaToday. "TB eradication mission renamed". Telangana Today. Retrieved 2020-01-02.
9. ^ a b Sachdeva, Kuldeep Singh et al. “New vision for Revised National Tuberculosis Control Programme (RNTCP): Universal access - "reaching the un-reached".” The Indian journal of medical research vol. 135,5 (2012): 690-4.
10. ^ a b c d e Hargreaves, James R.; Boccia, Delia; Evans, Carlton A.; Adato, Michelle; Petticrew, Mark; Porter, John D. H. (April 2011). "The Social Determinants of Tuberculosis: From Evidence to Action". American Journal of Public Health. 101 (4): 654–662. doi:10.2105/AJPH.2010.199505. PMC 3052350. PMID 21330583.
11. ^ Chandra, Shivani; Sharma, Nandini; Joshi, Kulanand; Aggarwal, Nishi; Kannan, Anjur Tupil (17 January 2014). "Resurrecting social infrastructure as a determinant of urban tuberculosis control in Delhi, India". Health Research Policy and Systems. 12 (1): 3. doi:10.1186/1478-4505-12-3. PMC 3898563. PMID 24438431.
12. ^ a b c Verma, Ramesh; Khanna, Pardeep; Mehta, Bharti (2013). "Revised National Tuberculosis Control Program in India: The Need to Strengthen". International Journal of Preventive Medicine. 4 (1): 1–5. PMC 3570899. PMID 23413398.
13. ^ a b c d Rowland, Katherine (2012). "Totally drug-resistant TB emerges in India". Nature. doi:10.1038/nature.2012.9797. S2CID 84692169.
14. ^ Udwadia, Z. F; Amale, R. A; Ajbani, K. K; Rodrigues, C (2011). "Totally Drug-Resistant Tuberculosis in India". Clinical Infectious Diseases. 54 (4): 579–581. doi:10.1093/cid/cir889. PMID 22190562.
15. ^ Dye, Christopher; Bourdin Trunz, Bernadette; Lönnroth, Knut; Roglic, Gojka; Williams, Brian G.; Gagneux, Sebastien (21 June 2011). "Nutrition, Diabetes and Tuberculosis in the Epidemiological Transition". PLOS ONE. 6 (6): e21161. Bibcode:2011PLoSO...621161D. doi:10.1371/journal.pone.0021161. PMC 3119681. PMID 21712992.
16. ^ Mishra, Gyanshankar; Ghorpade, S. V; Mulani, J (2014). "XDR-TB: An outcome of programmatic management of TB in India". Indian Journal of Medical Ethics. 11 (1): 47–52. doi:10.20529/IJME.2014.013. PMID 24509111.
17. ^ a b c d Sandhu, GK (April 2011). "Tuberculosis: current situation, challenges and overview of its control programs in India". Journal of Global Infectious Diseases. 3 (2): 143–50. doi:10.4103/0974-777X.81691. PMC 3125027. PMID 21731301.
18. ^ http://www.scidev.net/tb/facts[full citation needed][dead link][unreliable source?]
19. ^ Coghaln, Andy (12 January 2012). "Totally drug-resistant TB at large in India". New Scientist.
20. ^ "Welcome to the Tuberculosis Association of India".
21. ^ Daftary, Amrita; Frick, Mike; Venkatesan, Nandita; Pai, Madhukar (31 October 2017). "Fighting TB stigma: we need to apply lessons learnt from HIV activism". BMJ Global Health. 2 (4): e000515. doi:10.1136/bmjgh-2017-000515. PMC 5717927. PMID 29225954.
22. ^ Achmat, Z (December 2006). "Science and social justice: the lessons of HIV/AIDS activism in the struggle to eradicate tuberculosis". The International Journal of Tuberculosis and Lung Disease. 10 (12): 1312–7. PMID 17167946.
23. ^ "Street Science: Characterizing Local Knowledge". Street Science. 2005. doi:10.7551/mitpress/6494.003.0004. ISBN 978-0-262-27080-9.
24. ^ Kamineni, Vishnu VARDHAN; Wilson, Nevin; Das, Anand; Satyanarayana, Srinath; Chadha, Sarabjit; Singh Sachdeva, Kuldeep; Singh Chauhan, Lakbir (2012). "Addressing poverty through disease control programmes: examples from Tuberculosis control in India". International Journal for Equity in Health. 11 (1): 17. doi:10.1186/1475-9276-11-17. PMC 3324374. PMID 22449205.
25. ^ McBroom, K (June 2016). "Litigation as TB Rights Advocacy: A New Delhi Case Study". Health and Human Rights. 18 (1): 69–84. PMC 5070681. PMID 27781000.
26. ^ Udwadia, Zarir F (2012). "MDR, XDR, TDR tuberculosis: Ominous progression". Thorax. 67 (4): 286–288. doi:10.1136/thoraxjnl-2012-201663. PMID 22427352.
27. ^ a b Rao, VG; Muniyandi, M; Bhat, J; Yadav, R; Sharma, R (January 2018). "Research on tuberculosis in tribal areas in India: A systematic review". The Indian Journal of Tuberculosis. 65 (1): 8–14. doi:10.1016/j.ijtb.2017.06.001. PMID 29332655.
28. ^ a b Thomas, BE; Adinarayanan, S; Manogaran, C; Swaminathan, S (May 2015). "Pulmonary tuberculosis among tribals in India: A systematic review & meta-analysis". The Indian Journal of Medical Research. 141 (5): 614–23. doi:10.4103/0971-5916.159545 (inactive 2021-01-13). PMC 4510760. PMID 26139779.CS1 maint: DOI inactive as of January 2021 (link)
## Further consideration[edit]
* Central TB Division (March 2020). "India TB Report 2020". tbcindia.gov.in. Ministry of Health and Family Welfare.
* WHO Stop TB Department (2010). "A Brief History of Tuberculosis Control in India". World Health Organization.
## External links[edit]
Scholia has a topic profile for Tuberculosis in India.
Wikimedia Commons has media related to Tuberculosis in India.
* Central Tuberculosis Division of the Government of India
* v
* t
* e
Tuberculosis
Symptoms, signs and
associated conditions
* Caseous necrosis
* Ghon focus / Ghon's complex
* Giant multinucleated cell
* Pott disease
* Canga's bead symptom
* Prosector's wart
* Latent tuberculosis
* Paronychia
* Lupus vulgaris
* Tuberculous lymphadenitis
* Tuberculous meningitis
* Miliary tuberculosis
Mycobacterium species
* Mycobacterium africanum
* Mycobacterium bovis
* Mycobacterium caprae
* Mycobacterium tuberculosis
Tuberculosis diagnosis
* Ziehl–Neelsen stain
* Auramine phenol stain
* Culture on Löwenstein–Jensen medium and/or MGIT
* Chest photofluorography
* GeneXpert MTB/RIF
* Interferon gamma release assay
* QuantiFERON
* T-SPOT.TB
* Microscopic Observation Drug Susceptibility assay
* Tuberculin
* Heaf test
* Mantoux test
* Tine test
Management
* ATC code J04
* Isoniazid
* 4-Aminosalicylic acid
* Ethambutol
* Capreomycin
* Cycloserine
* Rifampicin
* Thioacetazone
* Streptomycin
* Bedaquiline
* RBCG30
* Pyrazinamide
* MVA85A
* Rifater
* vaccines
* BCG vaccine
Resistance
* Multi-drug-resistant tuberculosis
* Extensively drug-resistant tuberculosis
* Totally drug-resistant tuberculosis
History of tuberculosis
* Manuel de Abreu
* Hermann Brehmer
* Albert Calmette
* Christopher Dye
* Marcos Espinal
* Friedrich Franz Friedmann
* Max Gerson
* Philip D'Arcy Hart
* F. R. G. Heaf
* George M. Heath
* Robert Koch
* Charles Mantoux
* Richard Morton
* Mario Raviglione
* Carl Rüedi
* Lucius Rüedi
* Madonna Swan
* Edward Livingston Trudeau
Organizations
* Adirondack Cottage Sanitarium
* Campaign for Access to Essential Medicines
* Center for Infectious Disease Research
* Cure Cottages of Saranac Lake
* Glen Lake Children's Camp
* Glen Lake Sanatorium
* Glenn Dale Hospital
* The Global Fund to Fight AIDS, Tuberculosis and Malaria
* Global Plan to Stop Tuberculosis
* International Congress on Tuberculosis
* International Union Against Tuberculosis and Lung Disease
* Millennium Foundation
* Mycobacterium Tuberculosis Structural Genomics Consortium
* National Jewish Health
* Phipps Institute for the Study, Treatment and Prevention of Tuberculosis
* Stop TB Partnership
* TB Alliance
* Unitaid
Other
* 2007 tuberculosis scare
* 72F fusion protein vaccine
* Baumgarten-Tangl law
* CFP-10
* ESAT-6
* Iowa Cow War
* List of tuberculosis cases
* Plombage
* Preventorium
* Sanatorium
* Sunshine Way
* Tuberculosis classification
* Tuberculosis in China
* Tuberculosis in popular culture
* Tuberculosis radiology
* Tygerberg score
* World Tuberculosis Day
* v
* t
* e
Tuberculosis in Asia
Sovereign states
* Afghanistan
* Armenia
* Azerbaijan
* Bahrain
* Bangladesh
* Bhutan
* Brunei
* Cambodia
* China
* Cyprus
* East Timor (Timor-Leste)
* Egypt
* Georgia
* India
* Indonesia
* Iran
* Iraq
* Israel
* Japan
* Jordan
* Kazakhstan
* North Korea
* South Korea
* Kuwait
* Kyrgyzstan
* Laos
* Lebanon
* Malaysia
* Maldives
* Mongolia
* Myanmar
* Nepal
* Oman
* Pakistan
* Philippines
* Qatar
* Russia
* Saudi Arabia
* Singapore
* Sri Lanka
* Syria
* Tajikistan
* Thailand
* Turkey
* Turkmenistan
* United Arab Emirates
* Uzbekistan
* Vietnam
* Yemen
States with
limited recognition
* Abkhazia
* Artsakh
* Northern Cyprus
* Palestine
* South Ossetia
* Taiwan
Dependencies and
other territories
* British Indian Ocean Territory
* Christmas Island
* Cocos (Keeling) Islands
* Hong Kong
* Macau
* Book
* Category
* Asia portal
* v
* t
* e
Health in India
Healthcare
* Barefoot doctor
* Disease surveillance
* Health informatics
* Health
* Healthcare system reform
* Hospitals in India
* Medical colleges
* Organ donation
* Organ transplantation
* Women's health
Medicine and pharmaceutical
* Medicine
* Pharmacy
* Pharmaceutical industry
* Biotechnology
Diseases
* Disease-related deaths
* Cardiovascular disease
* Chronic diseases
* Diabetes
* Enterovirus 71 (EV71)
* HIV/AIDS
* Leprosy
* Malnutrition
* Obesity
* Pneumonic plague
* Blue-ear disease
* SARS (outbreak progress)
* Stroke
* Tuberculosis
Government
* Ministry of Health
* Ministry of Drinking Water and Sanitation
* Ministry of Housing and Urban Poverty Alleviation
* NACO
* AYUSH
Other issues
* Criminal: Corruption
* Human trafficking
* Illegal immigration
* Illegal mining
* Prostitution
* Ragging
* Smoking
* Suicide
* Terrorism
* Vigilantism
* Socioeconomic: Demographics
* Environment
* Pollution
* Caste
* Sanitation
* Poverty
* Vegetarianism
Epidemics
* Global pandemics
* Swine Flu
* COVID-19
* Cholera pandemics
* First cholera pandemic
* Second cholera pandemic
* Third cholera pandemic
* Fourth cholera pandemic
* Fifth cholera pandemic
* Sixth cholera pandemic
* Other outbreaks
* Smallpox
* Plague
* Hepatitis
* Bubonic plague
* v
* t
* e
Social issues in India
Economy
* Communications
* Famine
* Farmers' suicides
* Labour
* Land reforms
* Debt bondage
* National Pension System
* Poverty
* BPL
* Public distribution system
* Remittances
* Slums
* Clearance
* Standard of living
* Street vendors
* Transport
* Urbanisation
* Unemployment
* Widening income gap
Education
* Literacy
* Ragging
Environment
* Conservation
* Climate change
* Manual scavenging
* Natural disasters
* Water supply and sanitation
* Water disputes
Family
* Cohabitation
* Domestic violence
* Dowry system
* Family planning
* Hindu joint family
* Infertility
* Nuclear family
* Polyandry
* Polygamy
Children
* Abortion
* Child labour
* Child marriage
* Child prostitution
* Child trafficking
* Female foeticide
* Female infanticide
* Street children
Women
* Acid attack
* Bride burning
* Devadasi
* Dowry death
* Eve teasing
* Women's health
* Feminism
* Menstrual taboo
* Prostitution
* Rape
* Sati
* Sexism
Caste system
* Caste politics
* Caste-related violence
* Dalit
* Reservation
Communalism
* Proposed states and territories
* Ethnic relations
* Religious violence
* Secularism
* Separatist movements
Crime
* Corruption
* Groom kidnapping
* Human trafficking
* Illegal housing
* Illegal immigration
* Illegal mining
* Organised crime
* Terrorism
* Vigilantism
* Cybercrime
Health
* Diabetes
* Epidemics
* HIV/AIDS
* Leprosy
* Malnutrition
* Obesity
* Suicide
* Tuberculosis
Media
* Censorship
* Internet
* Films about social issues
* Freedom of expression
* Social impact of Indian soap opera
* Fake news
Other issues
* Colourism
* Feudalism
* Gambling
* Sexuality
* LGBT
* Homosexuality
* Hijra
* Human rights
* Prohibition
* Superstitions
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Tuberculosis in India | None | 28,822 | wikipedia | https://en.wikipedia.org/wiki/Tuberculosis_in_India | 2021-01-18T18:41:57 | {"wikidata": ["Q7850846"]} |
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
## Epidemiology
Epidemiological data is limited regarding Distal arthrogryposis type 1 (DA1). The prevalence of arthrogryposis overall is estimated between 1/4,300-5,100 live births and the birth prevalence of distal arthrogryposis (DA) has been suggested at 1/20,000. DA1 is the second most frequent type of DA, after DA2B (Sheldon-Hall syndrome). However, the overlap between the two conditions favors a similar frequency of the two forms.
## Clinical description
In 25% of cases DA1 is suspected prior to delivery, due to joint contractures (camptodactyly and/or clubfoot) and reduce fetal movements, in particular in familial cases. In the newborn a consistent pattern of hand and foot involvement, limited involvement of proximal joints and variable expressivity can be seen. Camptodactyly and clubfoot are largely present. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit, to severely clenched fist and ulnar deviation of the wrist. In the mildest form of DA1, affected individuals have only hypoplasia of the gastrocnemius. Short stature, small mouth with limited opening and mild microretrognathia are frequently seen. A linear vertical crease along the anterior tibia, usually bilaterally, is described in some patients. Intelligence is normal.
## Etiology
DA1 is caused by a heterozygous mutation in a gene encoding sarcomeric components of skeletal muscle fibers (TNNI2, 11p15.5; TNNT3, 11p15.5 ; TPM2, 9p13.3; MYH3, 17p13.1; MYBPC1, 12q23.2). The same genes are also responsible for DA2B. Recently, variants in MYLPF (16p11.2), encoding light chains of skeletal muscle myosin, have been described and appears to be more frequently associated with short stature and proximal joint contractures (ie, elbows, hips, knees).
## Diagnostic methods
Diagnosis is based on clinical examination and molecular studies. Instrumental investigations generally do not show any significant alterations.
## Differential diagnosis
The principal differential diagnosis includes a different type of DA (in particular DA2B), congenital amyoplasia and situations with limitation of fetal joint mobility (neurological/neuromuscular diseases, metabolic disturbances, skeletal dysplasias/connective tissue abnormalities, maternal illness or exposures, space limitation in utero, and intrauterine vascular compromise).
## Antenatal diagnosis
Some cases can be detected prenatally by ultrasonography. Detection of a known pathogenic mutation by chorionic villus sampling and amniocentesis should be discussed with couples at risk.
## Genetic counseling
Transmission is autosomal dominant, with a 50% recurrence risk for the offspring of affected individuals. Reduced penetrance and variable expressivity are reported, and some relatives with the mutation are asymptomatic. Some de novo mutations are reported, with a recurrence risk for sibs of approximately 1%. MYLPF variants can be autosomal dominant (50% recurrence risk) or autosomal recessive (25% recurrence risk).
## Management and treatment
Long-term orthopedic management and physiotherapy is required. Physiotherapy soon after birth is helpful in mobilizing joints and preventing disuse atrophy. Sometimes surgical procedures are required.
## Prognosis
Life expectancy is normal. The course of the disease is non-progressive. Significant improvements are achieved with physical and orthopedic therapy. Autonomy is generally unlimited.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Distal arthrogryposis type 1 | c0220662 | 28,823 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1146 | 2021-01-23T19:03:42 | {"gard": ["787"], "mesh": ["C535378"], "omim": ["108120", "126050", "614335", "618435"], "umls": ["C0220662", "C1852085"], "icd-10": ["Q68.8"], "synonyms": ["DA1", "Digitotalar dysmorphism"]} |
Persistent cloaca
Diagram of a female with persistent cloaca
SpecialtyMedical genetics
A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel.[1]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Signs and symptoms[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (February 2010) (Learn how and when to remove this template message)
Cloacas appear in a wide spectrum of variation in females born with the malformation. The single orifice, called a common channel, may occur varying in length from 1 to 10 cm. The length of the common channel can be used to judge prognostic outcomes and technical challenges during surgical repair. A common channel less than 3 cm in length usually has good sphincter muscles and a well-developed sacrum.
## Diagnosis[edit]
Diagnosis of a female with cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically. Failure to identify a cloaca as being present in a newborn may be dangerous, as more than 90% have associated urological problems. The goal for treatment of a female born with cloaca is to achieve bowel control, urinary control, and sexual function, which includes menstruation, sexual intercourse, and possibly pregnancy. Cloacas probably occur in 1 in 20,000 live births.[2][3]
## Treatment[edit]
The prognostic outcomes for this type of cloaca are good for bowel control and urinary function. The surgical repair for this type of cloaca can usually be done by performing posterior sagittal approach without opening of the abdomen. A common channel longer than 3 cm in length usually has poor sphincter muscles and a poor sacrum, suggesting a prognostic outcome for bowel control and urinary function to be less likely. Common channels longer than 3 cm are generally considered more complex and more technically challenging in surgical repair.[2]
## See also[edit]
* Cloaca (embryology)
* Cloaca
## References[edit]
1. ^ Jenkins D, Bitner-Glindzicz M, Thomasson L, et al. (2007), "Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1β in persistent cloaca and associated kidney malformations", J Pediatr Urol, 3 (1): 2–9, doi:10.1016/j.jpurol.2006.03.002, PMC 1864944, PMID 17476318.
2. ^ a b Spitz, Lewis; Coran, Arnold G (2006), Operative Pediatric Surgery (6th ed.), London: Hodder Arnold, pp. 503–519.
3. ^ Ashcroft, Keith; Holcomb, George; Murphy, J Patrick (2005), Pediatric Surgery (4th ed.), Philadelphia: Elsevier Saunders, pp. 496–517.
## External links[edit]
Classification
D
* ICD-10: Q43.7
* ICD-9-CM: 751.5
External resources
* eMedicine: ped/2924
* v
* t
* e
Congenital malformations and deformations of digestive system
Upper GI tract
Tongue, mouth and pharynx
* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia
Esophagus
* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)
Stomach
* Pyloric stenosis
* Hiatus hernia
Lower GI tract
Intestines
* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst
Rectum/anal canal
* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia
Accessory
Pancreas
* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum
Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Persistent cloaca | c0266225 | 28,824 | wikipedia | https://en.wikipedia.org/wiki/Persistent_cloaca | 2021-01-18T18:54:56 | {"umls": ["C0266225"], "icd-9": ["751.5"], "icd-10": ["Q43.7"], "wikidata": ["Q7170405"]} |
A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.
## Epidemiology
The annual incidence of AIHA is estimated at 1/35,000-1/80,000 in North America and Western Europe. Warm autoantibodies (active at temperatures between 37-40°C) cause 60-70% of cases, cold autoantibodies (active at temperatures below 30°C) account for 13-15% of cases, mixed type occurs in less than 10% of cases and the annual incidence of drug-induced AIHA is estimated at 1/1,000,000.
## Clinical description
The disease can appear at any age and there is a slight predominance of cases in females (60%). AIHA is characterized by hemolytic anemia, which is most often revealed by an unusual weakness and fatigue with tachycardia and exertional dyspnea, and also in some cases by jaundice, dark urine and/or splenomegaly.
## Etiology
AIHA can be primary (idiopathic), secondary to infection or associated with diseases such as B-cell lymphomas, other systemic or organ-specific autoimmune diseases, Hodgkin's disease, hepatitis or primary immunodeficiencies, or, in the case of drug-induced AIHA, caused by a reaction to drugs. The condition may develop gradually or occur suddenly. There are different subtypes of AIHA according to the temperature reactivity of the autoantibody: warm AIHA, cold AIHA (which includes cold agglutinin disease, CAD and paroxysmal cold hemoglobinuria or PCH), mixed-type AIHA and drug-induced AIHA (see these terms). Half of warm AIHA cases are idiopathic whereas almost all cold AIHA are secondary.
## Diagnostic methods
Diagnosis is based on clinical or laboratory evidence of hemolysis and the detection of autoantibodies by means of the direct anti-globulin test (DAT).
## Differential diagnosis
Biological differential diagnoses include other non-autoimmune causes of hemolytic anemia.
## Management and treatment
Treatment is dependent on correct diagnosis. Cases of drug-induced AIHA should be investigated to determine if stopping a drug will induce remission. For warm AIHAs, corticosteroids are used, followed by splenectomy if necessary. Some targeted therapies, such as rituximab (anti-CD20 monoclonal antibody), have shown promising results. Other immunosuppressive treatments may be suggested. For cold AIHA, keeping the patient warm may be sufficient, and corticosteroids and splenectomy must be avoided as they are known to be ineffective. Rituximab has been demonstrated as a relatively effective and safe option for treating patients with symptomatic chronic cold agglutinin disease. Transfusion may be necessary in cases with inadequate response to therapy and life-threatening worsening anemia. However, transfusion can be complicated because of the presence of the autoantibodies, which can, in addition, increase destruction of the donor red blood cells.
## Prognosis
Prognosis depends on the underlying cause of the disease and whether symptoms are managed appropriately and in a timely manner, but death is a rare outcome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autoimmune hemolytic anemia | c0002880 | 28,825 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98375 | 2021-01-23T18:05:03 | {"gard": ["5870"], "mesh": ["D000744"], "umls": ["C0002880"], "icd-10": ["D59.0", "D59.1"], "synonyms": ["AHA", "AIHA"]} |
Serkal syndrome
Other namesSEx Reversion, Kidneys, Adrenal and Lung dysgenesis
SERKAL syndrome (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) is an autosomal recessive disorder in XX humans. It is caused by loss of function in WNT4, a protein involved in sex development. The main outcome is female to male sex reversal.[1] Other names include sex reversion-kidneys and adrenal and lung dysgenesis syndrome. The condition's prevalence is lower than 1 in 1,000,000.[2]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 References
* 5 External links
## Presentation[edit]
The effect of the disorder is female to male sex reversal. Patients also exhibit renal, adrenal, and lung dysgenesis. One indicator is low levels of unconjugated estriol in maternal serum, because this denotes adrenal hypoplasia.[1]
## Genetics[edit]
The disorder is linked to a mutation in the Wnt4 gene. There is an intraexonic homozygous C to T transition at cDNA position 341. This leads to an alanine to valine residue substitution at amino acid position 114, a location highly conserved in all organisms, including zebrafish and Drosophila. A subsequent influence on mRNA stability leads to protein loss of function. WNT4 usually represses male sex development.[1]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (October 2019)
## References[edit]
1. ^ a b c <Mandel, H.; Shemer, R.; Borochowitz, Z. U.; Okopnik, M.; Knopf, C.; Indelman, M.; Drugan, A.; Tiosano, D.; Gershoni-Baruch, R.; Choder, M.; Sprecher, E. (2008). "SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4". The American Journal of Human Genetics. 82 (1): 39–47. doi:10.1016/j.ajhg.2007.08.005. PMC 2253972. PMID 18179883.
2. ^ "Orphanet: SERKAL syndrome". www.orpha.net. Retrieved 2019-03-01.
## External links[edit]
* SERKAL syndrome (The Monarch Initiative)
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Serkal syndrome | c2678492 | 28,826 | wikipedia | https://en.wikipedia.org/wiki/Serkal_syndrome | 2021-01-18T18:31:11 | {"gard": ["10302"], "mesh": ["C567517"], "orphanet": ["139466"], "wikidata": ["Q7454942"]} |
A number sign (#) is used with this entry because fragile X tremor/ataxia syndrome (FXTAS) is caused by an expanded trinucleotide repeat in the FMR1 gene (309550.0004).
In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations;' full repeat expansions with greater than 200 repeats results in fragile X syndrome (FXS; 300624) (Jacquemont et al., 2003).
Description
Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. Amiri et al. (2008) provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function.
The penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% (Hagerman and Hagerman, 2004); its penetrance in female carriers is approximately 5-10% (Greco et al., 2008).
Clinical Features
Hagerman et al. (2001) reported 5 men with a fragile X premutation, ranging from 78 to 98 repeats, who presented in the sixth decade with progressive intention tremor, parkinsonism, cognitive decline, generalized atrophy on MRI, and impotence. Two of the patients were college professors and 1 had a PhD in education. Levels of FMR1 mRNA were 2 to 4 times higher than normal, which the authors suggested resulted in a pathogenic gain-of-function effect. Leehey et al. (2003) reported 2 unrelated men who presented with essential tremor at ages 58 and 49 years and were later found to carry the fragile X premutation (90 and 160 repeats, respectively). Besides the disabling intention tremor, both patients had tandem gait difficulties, generalized brain atrophy, and elevated FMR1 mRNA.
Comparing 21 fragile X premutation carriers (7 male and 14 female) to 16 noncarriers, Berry-Kravis et al. (2003) found that the male premutation carriers had significantly increased postural and kinetic tremor and limb ataxia, as measured by standard scale scoring. The female carrier and control groups did not differ on any measure.
Late-onset tremor, gait unsteadiness, and dementia can be associated with brain atrophy in males of normal intelligence who are premutation carriers of the fragile X syndrome. By means of a telephone survey, Rogers et al. (2003) showed that this association is probably causal rather than coincidental. The premutation males were grandfathers ascertained through one of their daughter's sons having had the fragile X syndrome. The control subjects were the corresponding grandfathers on the paternal side of the family.
Jacquemont et al. (2003) demonstrated that carriers of the fragile X premutation can be affected by a multisystem, progressive neurologic disorder, which they termed the 'fragile X tremor/ataxia syndrome.' They presented a series of 26 patients, all more than 50 years of age, who were carriers of the fragile X premutation and affected by a neurologic disorder with 2 main clinical features, cerebellar ataxia and/or intention tremor. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetric regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter were considered to be highly sensitive for this neurologic condition, and their presence was the radiologic inclusion criterion for this series of cases. Molecular findings included elevated mRNA and low-normal or mildly decreased levels of FMR1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on MRI and with neuropathologic findings, afforded a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguished it from other movement disorders.
Macpherson et al. (2003) presented further evidence that premutations of the FMR1 gene may have clinical effects. They analyzed a cohort of patients with neurodegenerative disorders referred for genetic analysis of spinocerebellar ataxia genes and found that 3 of 59 males carried the premutation.
Hagerman et al. (2004) described 5 female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and received a diagnosis of FXTAS. Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from 1 of the 5 patients, who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the previously reported findings in males with FXTAS.
Hagerman and Hagerman (2004) pointed out that carriers of premutation alleles (55 to 200 CGG repeats) of the FMR1 gene can present with 1 or more of 3 distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile X spectrum; premature ovarian failure; and fragile X tremor/ataxia syndrome.
Biancalana et al. (2005) reported a woman with FXTAS who had an FMR1 premutation of 135 CGG repeats. She was originally diagnosed with multiple system atrophy with cerebellar signs. The patient had a long history of bipolar disorder and developed progressive ataxic gait at age 54 years. Examination at age 58 showed gait and limb ataxia, rigidity, hyperreflexia, and bladder incontinence. At age 64, she was bedridden with dysarthria, retrocollis, dysphagia, and horizontal nystagmus, and she died at age 65; she was not demented.
Brussino et al. (2005) identified FMR1 premutations, ranging from 83 to 109 repeats, in 6 (2.2%) of 275 unrelated Italian men with adult-onset sporadic progressive cerebellar ataxia. The frequency increased to 4.2% when considering only those patients with onset after age 50 years. Two relatives of 1 of the probands were also affected. Age at onset ranged from 53 to 69 years, and all individuals had cerebellar atrophy on neuroradiologic examination. In contrast to previous reports, tremor was infrequent in this group, present in only 3 of 8 individuals.
By retrospective analysis of patient data, Hall et al. (2005) found that 56 patients with FXTAS were initially given 98 prior diagnoses, most commonly parkinsonism, tremor, ataxia, dementia, or stroke. A review of published studies showed that 16 (3%) of 539 patients diagnosed with ataxia were FMR1 premutation carriers. Hall et al. (2005) suggested that FMR1 DNA testing should be performed in men over age 50 years with unexplained cerebellar ataxia, and in men over age 50 with action tremor, parkinsonism, or dementia who also have either a family history of developmental delay, autism, mental retardation, or premature ovarian failure, or who have the middle cerebellar peduncle sign on MRI.
Using MRI, Loesch et al. (2005) found that 8 older male premutation carriers (average age of 58.9 years) had significantly reduced volumes of cerebrum, cerebellum, and cerebral cortex compared to 21 age-matched controls. Total brain and cerebral volumes were inversely related to the number of CGG repeats in the FMR1 gene. The 8 premutation carriers also had increased hippocampal volumes compared to controls, suggesting neurodevelopmental changes such as lack of normal synaptic pruning.
Bacalman et al. (2006) described and quantified the neuropsychiatric symptoms present in a cohort of males with the FMR1 premutation allele who had developed the FXTAS phenotype. Fourteen male carriers with FXTAS syndrome and 14 age- and education-matched controls were assessed with the Neuropsychiatric Inventory (NPI) profile, formal cognitive testing, and genetic analysis. Males with FXTAS had significantly higher total NPI scores (p less than 0.004) and significantly higher scores on the agitation/aggression, depression, apathy, disinhibition, and irritability scales (each p value less than 0.004), compared with controls. Cognitive performances on the Mini-Mental State Examination did not correlate with severity of symptoms on the NPI. Bacalman et al. (2006) found that the neuropsychiatric manifestations of FXTAS appear to cluster as a frontosubcortical dementia. They strongly advised clinicians encountering patients with clinical dementia and motor symptoms suggesting FXTAS to consider genetic testing to determine whether the patient's dementia syndrome is secondary to a fragile X premutation carrier status, which could have further implications for other family members.
In brain MRI studies, Adams et al. (2007) observed less pronounced reductions in middle cerebellar peduncle volumes in females with FXTAS compared to males with FXTAS (13% and 58% reductions, respectively). Both affected males and females had significantly smaller whole brain volumes and increased white matter abnormalities compared to sex-matched unaffected premutation carriers and controls, respectively. There was no difference between unaffected premutation carriers and controls. Decreased cerebellar volume was associated with increased length of the CGG repeat and more advanced clinical disease in male, but not in female, premutation carriers. Milder radiographic findings in affected females compared to affected males suggested that a buffering effect may be present in females.
Goncalves et al. (2007) reported a 69-year-old man with an 85-repeat premutation allele who had onset of reclusive, apathetic behavior, imbalance, and gait difficulties. By age 70, he had severe cognitive impairment suggestive of frontal-subcortical network involvement. MRI showed white matter lesions in the middle cerebellar peduncle and the cerebellar hemispheres associated with diffuse brain atrophy. His grandson had full fragile X mental retardation syndrome. Goncalves et al. (2007) emphasized the unusual presentation of FXTAS in the elder patient.
Hagerman et al. (2007) reported 5 unrelated FXTAS patients who presented with peripheral neuropathy.
Greco et al. (2008) reported a woman diagnosed with relapsing-remitting multiple sclerosis (MS; see 126200) at age 38 who was found to have a 75-repeat FMR1 premutation allele. Clinical features included distal sensory loss, intention tremor, gait ataxia, spastic paraparesis, short-term memory deficits, progressive dysarthria, disinhibition, and depression. She died at the age of 52 years after progressive memory impairment and loss of motor control. Postmortem examination showed demyelinating plaques in the cerebral and cerebellar white matter, reactive astrocytosis, and intranuclear inclusions in astrocytes and cortical neurons. Greco et al. (2008) noted that clinical features of FXTAS and MS overlap and suggested that the pathologic processes may be related or may be additive.
Coffey et al. (2008) evaluated 146 female carriers with (18 patients) or without (128 patients) core features of FXTAS (tremor and gait ataxia) and 69 age-matched controls. Compared with controls, carriers with FXTAS had a significantly higher prevalence by history of thyroid disorders (50% vs 15.4%; p = 0.0096), hypertension (61.1% vs 18%; p = 0.002), seizures (22.2% vs 0%; p = 0.0077), peripheral neuropathy (52.9% vs 9.1%; p = 0.004), and fibromyalgia (43.8% vs 9.4%, p = 0.0097). Thyroid disease was more common in the non-FXTAS carrier group (17.3%) compared to the control group (10.1%) but this was not statistically significant. Coffey et al. (2008) recommended thyroid function studies in all female premutation carriers, especially those with features of FXTAS.
Hunter et al. (2008) found no significant differences in neuropsychologic testing scores between 63 males carriers under the age of 50 who were intermediate (20 to 55 repeats) or premutation (55 to 199 repeats) FMR1 alleles compared to 75 male controls. A comparison of 389 female intermediate or premutation allele carriers showed an association with increasing repeat length and self-reported attention difficulties compared to 117 female controls, but there were no differences in the other neuropsychologic testing scores.
Soontarapornchai et al. (2008) observed mildly decreased peripheral nerve conduction velocities in motor and sensory nerves of 16 males FXTAS premutation carriers compared to unaffected premutation carriers and controls. There was a correlation between longer CGG repeat number and slowing of the conduction velocity, suggesting that the premutation was a causal factor.
In a study of 74 men over age 50 years, including 35 carriers of FMR1 premutation alleles and 39 controls, Sevin et al. (2009) found that those with large FMR1 premutation alleles (70 to 200 repeats) had a 6-fold increased risk of developing cognitive decline compared to controls. The penetrance of cognitive impairment increased with allele size: 33.3% for 70 to 200 repeats compared to only 5.9% for 55 to 69 repeats and 5.1% for controls. Cognitive impairment was observed to precede motor symptoms in some cases.
Rodriguez-Revenga et al. (2010) reported 2 unrelated Spanish families in which 2 mothers with FXTAS and dementia with an expanded CGG repeat (98 and 88 repeats, respectively) transmitted an expanded CGG repeat (156 and 134, respectively) to each of their daughters. The mothers developed symptoms of gait ataxia and tremor at ages 73 and 56 years, respectively, which progressed to frontal lobe dysfunction. MRI showed cerebral, cerebellar, and brainstem atrophy, with the older woman having marked hyperintensities in the putamen and middle cerebellar peduncles. The daughters, aged 58 and 44, respectively, developed tremor at ages 54 and 29, respectively. The older woman also had gait ataxia. Both daughters showed subtle cognitive deficits, particularly in executive function and working memory. Brain MRI showed mild cerebral and cerebellar atrophy with variable hyperintensities in the basal ganglia. Other features in all 4 women included hearing loss in 3, muscle pain in 4, fibromyalgia in 3, and hypothyroidism in 2. Peripheral blood cells of all patients showed increased levels of FMR1 mRNA compared to controls, and all showed skewed X-chromosome inactivation favoring the mutant allele. The findings expanded the phenotype of FXTAS in females.
Molecular Genetics
In 5 men with FXTAS, Hagerman et al. (2001) identified a premutation in the FMR1 gene, ranging from 78 to 98 repeats (309550.0004). Levels of FMR1 mRNA were 2 to 4 times higher than normal, which the authors suggested resulted in a pathogenic gain-of-function effect.
In 2 unrelated men with FXTAS, Leehey et al. (2003) identified a fragile X premutation (90 and 160 repeats, respectively).
Pathogenesis
In patients with FXTAS, Berry-Kravis et al. (2003) found that the premutation was associated with increased levels of CGG repeat-containing FMR1 mRNA, which may interfere with nuclear function and lead to neurodegenerative symptoms.
Arocena et al. (2005) noted that FXTAS appears to affect only carriers of premutation alleles, who have normal or near-normal FMR1 protein levels in both peripheral blood leukocytes and brain tissue, suggesting that FXTAS may result from a toxic gain-of-function of the FMR1 mRNA itself. In human neural SK cells, expression of an 88-repeat premutation allele resulted in development of inclusions containing the heat shock protein alpha-B-crystallin (CRYAB; 123590) and lamin A/C (LMNA; 150330). The expanded FMR1 repeat was cytotoxic. The findings suggested that the neuropathology of FXTAS may be mediated in part by dysregulation of lamin A/C function, which would be consistent with the peripheral neuropathy that is common among FXTAS patients.
By postmortem examination of 11 males with FXTAS, Greco et al. (2006) reported significant cerebral and cerebellar white matter disease, astrocytic pathology with enlarged inclusion-bearing astrocytes, and intranuclear inclusions in the brain and spinal cord. Seven of 8 patients examined had spongiosis in the middle cerebellar peduncles. There was a highly significant association between the number of CGG repeats in the FMR1 gene and the number of intranuclear inclusions. Analysis of the intracellular inclusions identified in patients with FXTAS showed that they contain FMR1 mRNA, lamin A/C, neurofilaments, and ubiquitin (UBB; 191339) (Iwahashi et al., 2006).
Handa et al. (2005) found that transcribed but untranslated expanded CGG premutation alleles were toxic to human cells, and microarray analysis detected altered expression of a wide variety of genes, including upregulation of CASP8 (601763), CYFIP1 (606322), NTS (162650), and UBE3A (601623), which was confirmed by RT-PCR analysis.
Using gel-shift assays with mouse and fly brain lysates, followed by protein purification and mass spectroscopy, Jin et al. (2007) showed that the RNA-binding protein Pur-alpha (PURA; 600473) bound (CGG)105. Pur-alpha bound CGG repeats in a sequence-specific manner, and overexpression of Pur-alpha in a Drosophila model of FXTAS suppressed CGG repeat-mediated neurodegeneration in a dose-dependent manner. Furthermore, immunohistochemical analysis showed that Pur-alpha was ubiquitously expressed in wildtype fly eyes, but it was sequestered in inclusions in fly eyes expressing (CGG)105. Human PURA was present in ubiquitin-positive inclusions in postmortem FXTAS brain tissues. Jin et al. (2007) hypothesized that PURA is sequestered from its normal function by binding premutation CGG repeats, leading to pathologic changes in FXTAS.
Loesch et al. (2011) performed detailed clinical assessment and genetic testing in 14 male carriers of premutation and gray zone FMR1 alleles and 24 noncarriers identified in a sample of males with parkinsonism. The premutation and gray zone carriers presented with more severe symptoms than disease controls matched for age, diagnosis, disease duration, and treatment. The Parkinson disease motor score and the measure of cognitive decline were significantly correlated with the size of the CGG repeat and elevated levels of antisense FMR1 and cytochrome C1 (123980) mRNAs in blood leukocytes. In addition, the carriers showed a significant depletion of the NADH dehydrogenase subunit-1 mitochondrial gene (ND1, or MTND1; 516000) in whole blood. Loesch et al. (2011) concluded that small CGG expansion FMR1 alleles in the gray zone and lower end premutation play a significant role in the development of the parkinsonian phenotype, possibly through the cytotoxic effect of elevated sense and/or antisense FMR1 transcripts involving mitochondrial dysfunction and leading to progressive neurodegeneration.
Silva et al. (2013) studied a total of 44 unrelated FMR1 premutation carriers, 22 with FXTAS and 22 without, and genotyped them for the ApoE locus (107741). All ApoE4 (107741.0016) homozygous genotype carriers detected and 6 of the 7 ApoE4/3 (107741.0015) genotype carriers (85.7%) were patients presenting with FXTAS, whereas only 40% of the ApoE3/3 genotype carriers belonged to the FXTAS group. These results showed that the presence of the ApoE4 allele increases the risk of developing FXTAS (OR = 12.041; p = 0.034). Silva et al. (2013) concluded that the presence of at least 1 ApoE4 allele acts as a genetic factor predisposing individuals to develop FXTAS.
Population Genetics
Loesch et al. (2009) identified 4 carriers of FMR1 premutation alleles (56, 58, 83 and 87 CGGs, respectively) among 228 Australian males with idiopathic parkinsonism; no premutation alleles were found in 576 controls (p = 0.006). The frequency of premutation carriers was 1.75%, an almost 10-fold increase compared with the population frequency range of approximately 0.1 to 0.4%. There were also significantly more carriers of 'gray zone' alleles (ranging from 40 to 54 CGG repeats) among patients compared to controls (odds ratio of 2.36; p = 0.012). Loesch et al. (2009) suggested that both premutation and gray zone FMR1 alleles may contribute to increased susceptibility to of parkinsonism, and that toxic effects of expanded FMR1 mRNA may also occur when the expansions are smaller.
Animal Model
Willemsen et al. (2003) described neurohistologic, biochemical, and molecular studies of the brains of transgenic mice with an expanded CGG repeat (102 to 110 repeats) in human FMR1, and reported elevated Fmr1 mRNA levels and intranuclear inclusions with ubiquitin, Hsp40 (see 604572), and the 20S catalytic core complex of the proteasome as constituents. An increase was observed in both the number and the size of the inclusions during the course of life, which correlated with the progressive character of the cerebellar tremor/ataxia syndrome in humans. Willemsen et al. (2003) concluded that the observations in expanded-repeat mice supported a direct role of the Fmr1 gene, by either CGG expansion per se or by mRNA level, in the formation of the inclusions and suggested a correlation between the presence of intranuclear inclusions in distinct regions of the brain and the clinical features in symptomatic premutation carriers.
Jin et al. (2003) expressed a human FMR1 premutation allele of 90 CGG repeats in Drosophila using a heterologous transcript (EGFP). The expanded RNA alone induced neuron-specific degeneration, as observed in retinal cells, characterized by Hsp70 (see 140550)- and ubiquitin-positive inclusion bodies similar to those seen in patients with FXTAS. The findings suggested a role for a toxic RNA-mediated gain-of-function in FXTAS.
The transgenic fly model of FXTAS in which the 5-prime UTR of human FMR1 containing 90 CGG repeats is expressed specifically in the eye results in disorganized ommatidia, depigmentation, and progressive loss of photoreceptor neurons. Sofola et al. (2007) found that overexpression of human CUGBP1 (601074) suppressed the neurodegenerative eye phenotype in FXTAS flies. CUGBP1 did not interact directly with the CGG repeats, but did so via HNRNPA2B1 (600124). Expression of the A2 isoform of human HNRNPA2B1, or the Drosophila orthologs, also suppressed the eye phenotype of FXTAS flies.
Hashem et al. (2009) generated mice expressing the human 90 CGG premutation in the context of the mouse Fmr1 5-prime UTR or the EGFP (enhanced green fluorescent protein) 5-prime UTR, specifically in Purkinje neurons, in order to segregate the effects of CGG repeat from alterations in Fmr1 and to provide evidence that CGG repeat is necessary and sufficient to cause pathology similar to human FXTAS. CGG(90)-EGFP was sufficient to produce ubiquitin-positive intranuclear inclusion formation. They also demonstrated CGG(90)-EGFP overexpression resulted in Purkinje neuron axonal swellings and neurotoxicity and in a mouse phenotype showing progressive age-dependent decline in neuromotor learning ability. Hashem et al. (2009) concluded that CGG expressed in Purkinje neurons outside the context of Fmr1 mRNA may result in neuronal pathology in a mammalian system, and that expanded CGG repeats in RNA are the likely cause of the neurodegeneration in FXTAS.
INHERITANCE \- X-linked dominant HEAD & NECK Face \- Masked facies Ears \- Hearing loss Eyes \- Saccadic pursuit \- Nystagmus ABDOMEN Gastrointestinal \- Incontinence GENITOURINARY External Genitalia (Male) \- Impotence Internal Genitalia (Female) \- Premature ovarian failure Bladder \- Urinary incontinence MUSCLE, SOFT TISSUES \- Muscle pain \- Fibromyalgia NEUROLOGIC Central Nervous System \- Action tremor \- Intention tremor \- Resting tremor \- Postural tremor \- Ataxic gait \- Impaired tandem gait \- Parkinsonism \- Bradykinesia \- Dysdiadochokinesis \- Impaired fine motor skills \- Illegible handwriting \- Dysmetria \- Dysarthria \- Loss of executive function \- Cognitive decline \- Memory defects \- Dementia, progressive (more common in males) \- MRI shows generalized atrophy \- Cerebellar atrophy \- Increased T2 signal intensities in the middle cerebellar peduncles \- Neuropathology shows FMR1 mRNA-positive inclusions in neurons and astrocytes Peripheral Nervous System \- Peripheral neuropathy \- Hyporeflexia \- Decreased distal vibratory sensation \- Lower extremity numbness \- Lower extremity paresthesias Behavioral Psychiatric Manifestations \- Executive dysfunction \- Disinhibition \- Depression \- Anxiety \- Obsessive-compulsive disorder ENDOCRINE FEATURES \- Premature ovarian failure \- Hypothyroidism LABORATORY ABNORMALITIES \- Increased intracellular FMRP mRNA \- Decreased intracellular FMR protein MISCELLANEOUS \- Onset in fifties or sixties \- Caused by 55-200 expanded trinucleotide repeats in the FMR1 gene ( 309550 ) referred to as a 'premutation' \- Most patients have a family history of fragile X syndrome \- Full mutations with expanded trinucleotide repeats greater than 200 result in fragile X mental retardation syndrome ( 300624 ) \- Males are more commonly affected than females MOLECULAR BASIS \- Caused by trinucleotide repeat expansion (CGG)n in the fragile site mental retardation gene (FMR1, 309550.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FRAGILE X TREMOR/ATAXIA SYNDROME | c1839780 | 28,827 | omim | https://www.omim.org/entry/300623 | 2019-09-22T16:19:54 | {"doid": ["0050879"], "mesh": ["C564105"], "omim": ["300623"], "orphanet": ["93256"], "genereviews": ["NBK1384"]} |
Abnormally enlarged kidneys
Nephromegaly is the process whereby a kidney or both kidneys become enlarged.[1] Both autosomal dominant and autosomal recessive polycystic kidney disease can cause nephromegaly.
## References[edit]
1. ^ "Nephromegaly". Medcyclopaedia. Retrieved 2008-05-08.
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Nephromegaly | c0542518 | 28,828 | wikipedia | https://en.wikipedia.org/wiki/Nephromegaly | 2021-01-18T18:39:35 | {"umls": ["C0542518"], "wikidata": ["Q6995177"]} |
This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (December 2020)
Paranasal sinus and nasal cavity cancer
Bone of nasal cavity
SpecialtyOncology
SymptomsNose bleeds, Headaches, blocked sinus, diplopia,[1] etc.
Risk factorstextile dust, wood dust, nickel and leather, tobacco, alcohol consumption[2]，etc.
Diagnostic methodhead and neck X-ray, computed tomography scan,etc.
TreatmentSurgery, radiation therapy, chemotherapy, neck dissection
Paranasal sinus and nasal cavity cancer is a cancer that is caused by the appearance and invasion of malignant cells into the paranasal sinus which constructs the hollow and Oxygen-filled areas in bones of nose and tissue called nasal cavity which constructs the tissue above the bones of the mouth top and the front throat.[3] Meanwhile, the major age group of the cancer is between 50–70 years old.[3] It was also found that the number of male patients are twice larger than female patients.[3] During the early phase of the cancer, the symptoms could be nasal obstruction, hyposmia, etc.[3] Other symptoms will also appear as further growth of malignant cells and invasion of into other human tissue such as palate, orbital floor continuing. The head X-rays test and neck MRI could make contribution to the diagnosis of the cancer while normal surgery, radiation therapy and chemotherapy can be utilized for the treatment of the cancer.
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 2.1 Cigarettes and tobacco products
* 2.2 Environmental factors
* 2.3 Alcohol
* 3 Diagnosis
* 3.1 Physical test
* 3.2 X-rays
* 3.3 CT Scan & MRI
* 3.4 Biopsy
* 3.5 Bone scan
* 3.6 Nasoscopy
* 3.7 Other diagnosis methods
* 4 Treatment
* 4.1 Surgery
* 4.2 Proton therapy
* 4.3 Radiation therapy
* 4.4 Chemotherapy
* 4.5 Other treatments
* 5 See also
* 6 References
## Signs and symptoms[edit]
Paranasal sinuses
Sometimes, people with nasal cavity or paranasal sinus cancer do not show any of these symptoms. In fact, these types of cancer are usually diagnosed in their later stages because early-stage cancer typically does not cause any symptoms. Nasal cavity or paranasal sinus cancer is often discovered when a person is being treated for seemingly benign, inflammatory disease of the sinuses, such as sinusitis.[4] The signs and symptoms are generally caused by the neighbour structures like the paranasal sinus and nasal cavity.[5] There are no obvious signs and symptoms before the invasion of the tumor into bony area occurred. During the progress of the cancer, the overall signs and symptoms could be sinus pressure and blocked sinus, sinus areas pain and headaches, Nosebleeds, ear pressure and pain, etc.[1] Different symptoms will start to appear as the tumor start to invade into other body structures. symptoms such as proptosis, diplopia and other visual lesions would appear when tumor invade into the orbit.[5] Symptoms such as trismus (lockjaw), facial swelling, toothache, mid-face or jaw numbness would occur as the tumor invades the infratemporal fossa, pterygopalatine fossae or masseteric space.[5] Invasion to the cranial cavity may lead to headaches, nerve damage, and cerebrospinal fluid leak.
## Risk factors[edit]
### Cigarettes and tobacco products[edit]
Cigarettes smoking is strongly related to the risk of getting nasal cancer, smokers would burden excess 20% risk of having nasal cancer.[2] There is a positive relationship between the quantity of the smoked cigarettes, time period of smoking and the risk of having the cancer while the risk would decrease if smokers stop smoking.[2] Though it was found that the risk of having cancer have no relationship with amount of consumption of cigarettes by spouses. However, based on the research in Japan, the passive smoking receivers would burden higher risks of having the paranasal sinus and nasal cavity cancer.[2]
Smoking is strongly related to paranasal sinus and nasal cavity cancer
Furthermore, the direct contact with tobacco powder such as gum and buccal mucosa would also largely increase the possibility of getting the cancer.[6]
### Environmental factors[edit]
It was found that the environmental factors can be seen as one of the main causes of paranasal sinus and nasal cavity cancer.[2] exposure to textile dust, wood dust, nickel and leather might also cause the paranasal sinus and nasal cavity tumor.[3] Meanwhile, it is also risky to exposure to the radium fumes, formaldehyde fumes and other fumes products used for producing furnitures and shoes.[7] People who exposure to the air pollution is also the high risk group of getting the cancer.[7]
### Alcohol[edit]
It was supported that the alcohol consumption could increase the risk of the cancer.[2] However, there is no evidence for the specific impacts of alcohol to histologic different types of the paranasal sinus and nasal cavity cancer.[6] a large amount of the consumption of salted food and smoked food may also increase the risk of getting paranasal sinus and nasal cavity cancer.[2] Meanwhile, infection of human papillomavirus can be considered as the lead factors of paranasal sinus and nasal cavity cancer.[1] The increase of risk of the cancer may also occur due to the chronic nasal conditions.[6]
## Diagnosis[edit]
### Physical test[edit]
Initially, an overall physical test will be implemented by the doctor. to check patient health situation and find signals of the cancer such as lump.[8] The patient past medical records will also provide essential information to the doctor.[8] Meanwhile, the examination of unusual areas around face will be implemented by doctor small long-handed mirror.[8] However, blood test or urine test cannot make contribution to the diagnosis of the paranasal sinus and nasal cavity cancer.[7]
### X-rays[edit]
X-rays will be utilized to identify the unusual part in the patient sinus such as treatable infection rather than air.[7] The CT scan should be applied for further detection of the signals of cancer. The head and neck X-rays will also involved in the diagnosis of the paranasal sinus and nasal cavity cancer.[1]
### CT Scan & MRI[edit]
As the imaging plays a pivotal role in diagnosing the cancer cells. The CT scan and MRL should be used in the diagnosis process to extend the investigation of the cancer. The coronal CT scan could make more contribution to the identification of the damage level of bone especially in the area of cribriform plate.[3] MRI technology can be seen as a more efficient method to identify the tumor located in the soft issue and fluid.[3] Meanwhile, The MRI technology could make contribution to the determinations of tumor size.[7]
### Biopsy[edit]
The biopsy is the examination of a small part of the human tissue with the help of microscope.[7] Only the biopsy could determine the final diagnosis of the paranasal sinus and nasal cavity cancer.[7] The biopsy examination can be divided into different types of biopsy. The FNA biopsy can be implemented by a needle extract tissue or fluid.[1] The incisional of biopsy aims to extract the likely malignant tissue in the patient body.[1]
### Bone scan[edit]
The main goal of bone scan is to investigate whether the cancer cells of paranasal sinus and nasal cavity has spread into the bone.
### Nasoscopy[edit]
The nasoscopy will be utilized as the diagnosis method of paranasal sinus and nasal cavity cancer.[1] The nasoscopy can be implemented by the insertion of a nasoscope into the patient nose and search for abnormal area insert the nose.[1] The tissue might be extracted with the help of a special tool and examined by the microscope and search for the signals of the paranasal sinus and nasal cavity cancer.[1]
### Other diagnosis methods[edit]
The PET scan will also be implemented to detect the cancer cells inside the body.[7] The positron emission tomograph with the help of FDG could provide valuable tumor information after the 6-week treatment.[3] The laryngoscopy can be utilised to check the signs of cancer with a microscope inside the throat and voice box.[1] The testing and analysis of tissues organs and cells called biopsy can be utilized to diagnosis the paranasal sinus and nasal cavity cancer.[7]
## Treatment[edit]
Various treatments could be implemented to cure the paranasal sinus and nasal cavity cancer. Generally, treatments methods three basic methods: surgery, radiation therapy and chemotherapy and proton therapy, etc.
### Surgery[edit]
Surgery can be implemented in all stages of paranasal sinus and nasal cavity cancer.[1] The main goal of the surgery is to remove the tissue of cancer and some healthy tissues around the malignant tissue.[1] The following therapy may include chemotherapy and radiation therapy.[8]
The types of surgery can be divided into different types method. The implementation of matxillectomy would mainly aim to remove part or all of the part of hard palate. The vacancy of the removed area can be filled by the prostheses or soft tissue.[7] The extend surgery called skull nose surgery could be also utilized in the treatment of paranasal sinus and nasal cavity cancer, more human tissue will be dislodged than the matxillectomy. Meanwhile, If a large part of the tissue was removed due to the surgery, the reconstructive surgery could be utilised to reconstruct the removed tissues by using artificial materials.[7]
When the doctor anticipate the cancer would spread to the neck, the neck dissection might be performed in order to remove the lymph nodes in the neck area, thereby stopping the paranasal sinus and nasal cavity cancer spread.[7]
### Proton therapy[edit]
According to the result of experiment which utilized proton therapy to cure the paranasal sinus and nasal cavity cancer were implemented started from January, 2007. the local diseases of 43 patients in total 48 patients(88%) were successfully controlled.[9] One patient were cured with additional following surgery.[9] However, the brisk skin reactions occurred to all the patients after the whole proton therapy but were cured after the four weeks of the completion of proton therapy.[9] The 1 year survival rate is 94% while the 2-years survival rate is 73%.[9]
### Radiation therapy[edit]
The radiation therapy aims to destroy the cancer cells by using the huge-energy x rays.[7] It could be said that the radiation therapy is an effective method for the paranasal sinus and nasal cavity cancer after the implementation of the surgery.[9] The radiation therapy can also be seen as an alternative method for the patient who is unable to take the surgery.[7] When it comes to the radiation therapy, the evolvement of the radiation therapy from conventional radiation therapy to the three-dimensional therapy and improved the accuracy of the distribution of the dose to the target tissues and made contributions the treatment of paranasal sinus and nasal cavity cancer.[9] When compared to VMAT method, the radiation therapy provides a worse homogeneity and conformity for PTV.[10] Meanwhile, the modern radiation therapy such as IMRT which enables the restrictions of radiation doses to the nearby healthy tissue shows normal ability to the tumor control rather than a less effective tumor control method.[9] Toothy decay may caused by the radiation therapy.[7] However, it may can be prevented by receiving a proper dentist treatment before the radiation therapy.[7] The brisk skin reactions, redness of the skin may caused by the therapy.[7]
### Chemotherapy[edit]
Lastly, the chemotherapy can be defined as a treatment towards the cancer by using the medication to destroy the malignant cells.[7] The chemotherapy is usually used before the surgery and radiation therapy or after the treatment of surgery and radiation therapy.[7] The chemotherapy can be implemented by using the drugs to stop the spread of paranasal sinus and nasal cavity cancer.[8] The chemotherapy could make contribution to destroy the cancer cells or stop them from division.[1] The chemotherapy could have effect on the cancer cell of the whole body by injecting into vein or taken by patient. The chemotherapy could influence a specific area by placing it into a specific area.[8] Evidence shows that the chemotherapy could make also contribution to the treatment of sinonasal cancer which is a sub-branch of the paranasal sinus and nasal cavity cancer.[11] Infection, loss of hair might occur after the implementation of chemotherapy.
### Other treatments[edit]
In some cases, thrond nasal cavity patient and it could be implemented throughout the whole process of cancer treatment.
## See also[edit]
* Head and neck cancer
* Paranasal sinus
* Nasal cavity
## References[edit]
1. ^ a b c d e f g h i j k l m National Cancer Institute (2019). Paranasal Sinus and Nasal Cavity Cancer Treatment (Adult) (PDQ®)–Patient Version. National Cancer Institute. Retrieved 1st April,2019 from https://www.cancer.gov/types/head-and-neck/patient/adult/paranasal-sinus-treatment-pdq#_1
2. ^ a b c d e f g Zheng, W., Mclaughlin, J., Chow, W., Chien, H., Blot, W., & Zheng, W. (1993). Risk factors for cancers of the nasal cavity and paranasal sinuses among white men in the United States. American Journal of Epidemiology, 138(11), 965–972. https://doi.org/10.1093/oxfordjournals.aje.a116816
3. ^ a b c d e f g h Kraus, D., & Maghami, E. (2004). Cancer of the nasal cavity and paranasal sinuses. Expert Review of Anticancer Therapy, 4(3), 411–424. https://doi.org/10.1586/14737140.4.3.411
4. ^ "Nasal Cavity and Paranasal Sinus Cancer - Symptoms and Signs". Cancer.Net. 2012-06-25. Retrieved 2020-01-29.
5. ^ a b c Siddiqui, F., Smith, R., Yom, S., Beitler, J., Busse, P., Cooper, J., … Salama, J. (2017). ACR appropriateness criteria® nasal cavity and paranasal sinus cancers. Head & Neck, 39(3), 407–418. https://doi.org/10.1002/hed.24639
6. ^ a b c Brinton, L., Blot, W., Becker, J., Winn, D., Browder, J., Farmer, J., & Fraumeni, J. (1984). A Case-control Study of Cancers of the Nasal Cavity and Paranasal Sinuses. American Journal of Epidemiology, 119(6), 896–906. https://doi.org/10.1093/oxfordjournals.aje.a113812
7. ^ a b c d e f g h i j k l m n o p q r s "Nasal Cavity and Paranasal Sinus Cancer - Diagnosis". Cancer.Net. 2012-06-25. Retrieved 2019-05-12.
8. ^ a b c d e f National Cancer Institute (2019). Paranasal Sinus and Nasal Cavity Cancer Treatment (Adult) (PDQ®)–Patient Version. National Cancer Institute. Retrieved 1st April,2019 from https://www.cancer.gov/types/head-and-neck/patient/adult/paranasal-sinus-treatment-pdq#_1
9. ^ a b c d e f g Hoppe, B., Stegman, L., Zelefsky, M., Rosenzweig, K., Wolden, S., Patel, S., … Lee, N. (2007). Treatment of nasal cavity and paranasal sinus cancer with modern radiotherapy techniques in the postoperative setting—the MSKCC experience. International Journal of Radiation Oncology, Biology, Physics, 67(3), 691–702. https://doi.org/10.1016/j.ijrobp.2006.09.023
10. ^ Jeong, Y., Lee, S., Kwak, J., Cho, I., Yoon, S., Kim, J., … Ahn, S. (2014). A Dosimetric Comparison of Volumetric Modulated Arc Therapy (VMAT) and Non-Coplanar Intensity Modulated Radiation Therapy (IMRT) for Nasal Cavity and Paranasal Sinus Cancer. International Journal of Radiation Oncology*Biology*Physics, 90(1). https://doi.org/10.1016/j.ijrobp.2014.05.2472
11. ^ Fernström, E., Nyman, J., Hammerlid, E., Holmberg, E., Haugen-Cange, H., Petruson, K., … Björk-Eriksson, T. (2017). Results of preoperative chemoradiotherapy for patients with advanced cancer of the nasal cavity and paranasal sinuses. Acta Oto-Laryngologica, 137(12), 1292–1300. https://doi.org/10.1080/00016489.2017.1357081
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Paranasal sinus and nasal cavity cancer | c1710095 | 28,829 | wikipedia | https://en.wikipedia.org/wiki/Paranasal_sinus_and_nasal_cavity_cancer | 2021-01-18T18:46:11 | {"umls": ["C1710095"], "wikidata": ["Q72099476"]} |
Distress caused by being away from home
Summer camps for children are often associated with homesickness, particularly for children who are away from their parents for the first time.
Homesickness is the distress caused by being away from home.[1] Its cognitive hallmark is preoccupying thoughts of home and attachment objects.[2] Sufferers typically report a combination of depressive and anxious symptoms, withdrawn behavior and difficulty focusing on topics unrelated to home.[3][4][5] Homesickness can be seen in children and adults.[6] The affected person may be taking a short trip to a nearby place, such as summer camp, or the person may be taking a long trip or have moved to a different country.[6]
In its mild form, homesickness prompts the development of coping skills and motivates healthy attachment behaviors, such as renewing contact with loved ones.[7] Indeed, nearly all people miss something about home when they are away, making homesickness a nearly universal experience.[8] However, intense homesickness can be painful and debilitating.[9][10]
## Contents
* 1 Historical references
* 2 Diagnosis and epidemiology
* 3 Risk and protective factors
* 3.1 Risk factors
* 3.2 Protective factors
* 4 Theories of coping
* 4.1 Ways of coping
* 5 Popular culture
* 6 See also
* 7 References
* 8 External links
## Historical references[edit]
Homesickness is an ancient phenomenon, mentioned in both the Old Testament books of Exodus and Psalm 137:1 ("By the rivers of Babylon, there we sat down, yea, we wept, when we remembered Zion") as well as Homer's Odyssey, whose opening scene features Athena arguing with Zeus to bring Odysseus home because he is homesick ("...longing for his wife and his homecoming..."). The Greek physician Hippocrates (ca. 460–377 BC) believed that homesickness—also called "heimveh" (from German "Heimweh") or a "nostalgic reaction"—was caused by a surfeit of black bile in the blood.[11] In recent history homesickness is first mentioned specifically with Swiss people being abroad in Europe ("Heimweh") for a longer period of time in a document dating back to 1651.[12] This was a normal phenomenon amongst the many common Swiss mercenaries serving in different countries and many rulers across Europe at that time. It was not uncommon for them staying many years away from home and, if lucky enough, return home if still alive. This phenomenon at that time was first only thought to affect Swiss people until this was revised, probably caused by big migration streams across Europe suggesting the same symptoms and thus homesickness found its way into general German medical literature in the 19th century.
American contemporary histories, such as Susan J. Matt's Homesickness: An American History eloquently describe experiences of homesickness in colonists, immigrants, gold miners, soldiers, explorers and others spending time away from home. First understood as a brain lesion, homesickness is now known to be a form of normative psychopathology that reflects the strength of a person's attachment to home, native culture and loved ones, as well as their ability to regulate their emotions and adjust to novelty. Cross-cultural research, with populations as diverse as refugees and boarding school students, suggests considerable agreement on the definition of homesickness.[13] Additional historical perspectives on homesickness and place attachment can be found in books by van Tilburg & Vingerhoets,[13] Matt,[14] and Williams.[15]
## Diagnosis and epidemiology[edit]
Whereas separation anxiety disorder is characterized by "inappropriate and excessive fear or anxiety concerning separation from those to whom the individual is attached"[16] symptoms of homesickness are most prominent after a separation and include both depression and anxiety. In DSM terms, homesickness may be related to Separation Anxiety Disorder, but it is perhaps best categorized as either an Adjustment Disorder with mixed anxiety and depressed mood (309.28) or, for immigrants and foreign students as a V62.4, Acculturation Difficulty. As noted above, researchers use the following definition: "Homesickness is the distress or impairment caused by an actual or anticipated separation from home. Its cognitive hallmark is preoccupying thoughts of home and attachment objects." Recent pathogenic models support the possibility that homesickness reflects both insecure attachment and a variety of emotional and cognitive vulnerabilities, such as little previous experience away from home and negative attitudes about the novel environment.[citation needed]
The prevalence of homesickness varies greatly, depending on the population studied and the way homesickness is measured.[17] One way to conceptualize homesickness prevalence is as a function of severity. Nearly all people miss something about home when they are away, so the absolute prevalence of homesickness is close to 100%, mostly in a mild form. Roughly 20% of university students and children at summer camp rate themselves at or above the midpoint on numerical rating scales of homesickness severity. And only 5–7% of students and campers report intense homesickness associated with severe symptoms of anxiety and depression. However, in adverse or painful environments, such as the hospital or the battlefield, intense homesickness is far more prevalent. In one study,[18] 50% of children scored themselves at or above the midpoint on a numerical homesickness intensity scale (compared to 20% of children at summer camp). Soldiers report even more intense homesickness, sometimes to the point of suicidal misery. Naturally, aversive environmental elements, such as the trauma associated with war, exacerbate homesickness and other mental health problems. In sum, homesickness is a normative pathology that can take on clinical relevance in its moderate and severe forms.[citation needed]
## Risk and protective factors[edit]
Newly enlisted soldiers sometimes experience homesickness when they are staying in an army boot camp.
Risk factors (constructs which increase the likelihood or intensity of homesickness) and protective factors (constructs that decrease the likelihood or intensity of homesickness) vary by population. For example, a seafarers on board, the environmental stressors associated with a hospital, a military boot camp or a foreign country may exacerbate homesickness and complicate treatment. Generally speaking, however, risk and protective factors transcend age and environment.
### Risk factors[edit]
The risk factors for homesickness fall into five categories: experience, personality, family, attitude and environment.[2] More is known about some of these factors in adults—especially personality factors—because more homesickness research has been performed with older populations.[19] However, a growing body of research is elucidating the etiology of homesickness in younger populations, including children at summer camp,[3][4] hospitalized children[18] and students.[9]
* Experience factors: Younger age; little previous experience away from home (for which age can be a proxy); little or no previous experience in the novel environment; little or no previous experience venturing out without primary caregivers.
* Attitude factors: The belief that homesickness will be strong; negative first impressions and low expectations for the new environment; perceived absence of social support; high perceived demands (e.g., on academic, vocational or sports performance); great perceived distance from home
* Personality factors: Insecure attachment relationship with primary caregivers; low perceived control over the timing and nature of the separation from home; anxious or depressed feelings in the months prior to the separation; low self-directedness; high harm avoidance; rigidity; a wishful-thinking coping style.
* Family factors: decision control (e.g., caregivers forcing young children to spend time away from home against their wishes);
### Protective factors[edit]
Factors which mitigate the prevalence or intensity of homesickness are essentially the inverse of the risk factors cited above. Effective coping (reviewed in the following section) also diminishes the intensity of homesickness over time. Prior to a separation, however, key protective factors can be identified. Positive adjustment to separation from home is generally associated with the following factors:[citation needed]
* Experience factors: Older age; substantial previous experience away from home (for which age can be a proxy); previous experience in the novel environment; previous experience venturing out without primary caregivers.
* Attitude factors: The belief that homesickness will be mild; positive first impressions and high expectations for the new environment; perceptions of social support; low perceived demands (e.g., on academic or vocational performance); short perceived distance from home
* Personality factors: Secure attachment relationship with primary caregivers; high perceived control over the timing and nature of the separation from home; good mental health in the months prior to the separation; high self-directedness; adventure-seeking; flexibility; an instrumental coping style.
* Family factors: High decision control (e.g., caregivers including a young person in the decision to spend time away from home); individuals making their own choice about military service; supportive caregiving; caregivers who express confidence and optimism about the separation (e.g., "Have a great time away. I know you'll do great.")
* Environmental factors: Low cultural contrast (e.g., same language, similar customs, familiar food in the new environment); physical and emotional safety; few changes to familiar daily schedule; plenty of information about the new place prior to relocation; feeling welcome and accepted in the new place.
## Theories of coping[edit]
Many psychologists argue that research into the causes of homesickness is valuable for three reasons. First, homesickness is experienced by millions of people who spend time away from home (see McCann, 1941, for an early review[20]) including children at boarding schools,[21] residential summer camps[17] and hospitals.[22]
Second, severe homesickness is associated with significant distress and impairment. There is evidence that homesick persons are present with non-traumatic physical ailments significantly more than their non-homesick peers.[23] Homesick boys and girls complain about somatic problems and exhibit more internalising and externalising behaviours problems than their non-homesick peers. First-year college students are three times more likely to drop out of school than their non-homesick peers.[24] Other data have pointed to concentration and academic problems in homesick students. And maladjustment to separation from home has been documented in hospitalized young people and is generally associated with slower recovery. See Thurber & Walton (2012) for a review.
Third, learning more about how people cope with homesickness is a helpful guide to designing treatment programs. By complementing existing theories of depression, anxiety and attachment, a better theoretical understanding of homesickness can shape applied interventions. Among the most relevant theories that could shape interventions are those concerned with Learned Helplessness[25] and Control Beliefs.[26]
Learned helplessness predicts that persons who develop a belief that they cannot influence or adjust to their circumstance of separation from home will become depressed and make fewer attempts to change that circumstance. Control beliefs theory predicts that negative affect is most likely in persons who perceive personal incompetence in the separation environment (e.g., poor social skills at a summer camp or university) and who perceive contingency uncertainty (e.g., uncertainty about whether friendly behavior will garner friends). Although these are not the only broad etiologic theories that inform homesickness, note that both theories hinge on control, the perception of which "reflects the fundamental human need for competence" (Skinner, 1995, p. 8). This is particularly relevant to coping, because people's choice of how to respond to a stressor hinges partly on their perception of a stressor's controllability.
An equally important coping factor is social connection, which for many people is the antidote to homesickness. As the results of several studies have suggested, social connection is a powerful mediator of homesickness intensity.[27][28]
### Ways of coping[edit]
The most effective way of coping with homesickness is mixed and layered. Mixed coping is that which involves both primary goals (changing circumstances) and secondary goals (adjusting to circumstances). Layered coping is that which involves more than one method. This kind of sophisticated coping is learned through experience, such as brief periods away from home without parents. As an example of mixed and layered coping, one study[29] revealed the following method-goal combinations to be the most frequent and effective ways for boys and girls:
* Doing something fun (observable method) to forget about being homesick (secondary goal)
* Thinking positively and feel grateful (unobservable method) to feel better (secondary goal)
* Simply changing feelings and attitudes (unobservable method) to be happy (secondary goal)
* Reframing time (unobservable method) in order to perceive the time away as shorter (secondary goal)
* Renewing a connection with home, through letter writing (observable method) to feel closer to home (secondary goal)
* Talking with someone (observable method) who could provide support and help them make new friends (primary goal)
Sometimes, people will engage in wishful thinking, attempt to arrange a shorter stay or (rarely) break rules or act violently in order to be sent home. These ways of coping are rarely effective and can produce unintended negative side effects.
## Popular culture[edit]
Homesickness is a major theme of the film Brooklyn (2015). One critic said that the protagonist's depiction of homesickness "as a physical, implacable reality is acute, and it's backed up by what we see around her."[30]
## See also[edit]
* Nostalgia
* Third culture kid
* Sehnsucht
* Hiraeth
* Saudade
* Separation anxiety disorder
* Culture shock
## References[edit]
1. ^ Kerns, Brumariu, Abraham. Kathryn A., Laura E., Michelle M.(2009/04/13). Homesickness at summer camp. Merrill-Palmer Quarterly, 54.
2. ^ a b Thurber, C.A. & Walton, E.A. (2007). Preventing and treating homesickness. Pediatrics, 119, 843–858.
3. ^ a b Thurber, C.A., Sigman, M.D., Weisz, J.R., & Schmidt, C.K. (1999). Homesickness in preadolescent and adolescent girls: Risk factors, behavioral correlates, and sequelae. Journal of Clinical Child Psychology, 28, 185–196.
4. ^ a b Thurber, C.A. (1999). The phenomenology of homesickness in boys. Journal of Abnormal Child Psychology, 27, 125–139.
5. ^ Fisher, S. (1989). Homesickness, Cognition, and Health. Hove, UK: Lawrence Erlbaum.
6. ^ a b Gismondi, Melissa J. (2020-11-18). "You Can't Run Away from Homesickness". The Walrus. Retrieved 2020-11-22.
7. ^ Thurber, C.A. & Weisz, J.R. (1997). "You Can Try or You Can Just Give Up": The impact of perceived control and coping style on childhood homesickness. Developmental Psychology, 33, 508–517.
8. ^ van Tilburg, M.A.L. & Vingerhoets, A. (Eds.) (1997). Acculturation stress and homesickness. Tilburg, The Netherlands: Tilburg University Press.
9. ^ a b Thurber, C.A. & Walton, E.A. (2012). Homesickness and adjustment in university students. Journal of American College Health, 60, 1–5.
10. ^ Fisher, S. & Hood, B. (1987). The stress of the transition to university: A longitudinal study of psychological disturbance, absent-mindedness and vulnerability to homesickness. British Journal of Psychology, 78, 425–441.
11. ^ Zwingmann, C. (1959). "Heimveh" or "nostalgic reaction": A conceptual analysis and interpretation of a medico-psychological phenomenon [dissertation]. Stanford (CA): Stanford University.
12. ^ Schweizerisches Idiotikon, vol. XV c. 42 f., article Heimwē
13. ^ a b van Tilburg, M.A.A. & Vingerhoets, A. (Eds.). (1997). Acculturation Stress and Homesickness. Tilburg, The Netherlands. Tilburg University Press.
14. ^ Matt, S.J. (2011). Homesickness: An American History. USA: Oxford University Press.
15. ^ Williams, A. (Ed.). (1999). Therapeutic Landscapes: The Dynamic Between Place and Wellness. New York: University Press of America.
16. ^ American Psychiatric Association. "Diagnostic and Statistical Manual of Mental Disorders." 5th ed. Washington, DC: Author: 2013
17. ^ a b Thurber, C.A. (1995). The experience and expression of homesickness in preadolescent and adolescent boys. "Child Development, 66", 1162–1178.
18. ^ a b Thurber, C.A., Patterson, D., & Mount, K.K. (2007). Homesickness and children's adjustment to hospitalization: Toward a preliminary model. "Children's Healthcare, 36", 1–28.
19. ^ Verschuur, M.J., Eurelings-Bontekoe, E.H.M., Spinhoven, P., & Duijsens, I.J. (2003). Homesickness, temperament and character. "Journal of Personality and Individual Differences, 35", 757–770.
20. ^ McCann, W.H. (1941). Nostalgia: A review of the literature. "Psychological Bulletin, 38", 165–182.
21. ^ Fisher, S., Elder, L., & Peacock, G. (1990). Homesickness in a school in the Australian Bush. "Children's Environments Quarterly, 7", 15–22.
22. ^ Mitchell, J.V. Recreational therapy program alleviates homesickness. "Hospital Topics, 44", 97–98.
23. ^ Fisher, S., Frazer, N., & Murray., K. (1986). Homesickness and health in boarding school children. "Journal of Environmental Psychology, 6", 35–47.
24. ^ Burt, C. (1993). Concentration and academic ability following the transition to university: An investigation of the effects of homesickness. "Journal of Environmental Psychology, 13", 333–342.
25. ^ Abramson, L.Y., Seligman, M.E.P., & Teasdale, J.D. (1978). Learned helplessness in humans: Critique and reformation. "Journal of Abnormal Psychology, 87", 49–74.
26. ^ Weisz, J.R., (1990). Development of control-related beliefs, goals, and styles in childhood and adolescence: A clinical perspective. In K.W. Schaie, J. Rodin, & C. Scholler (Eds.), "Self-directedness and efficacy: Causes and effects throughout the life course (pp. 103–145). New York: Erlbaum.
27. ^ Hendrickson, B., Rosen, D., & Aune, R.K., (2010). An analysis of friendship networks, social connectedness, homesickness and satisfaction levels of international students. "International Journal of Intercultural Relations, 35", 281–295.
28. ^ Kerns, K.A., Brumariu., L.E., & Abraham, M.M., (2008). Homesickness at summer camp: associations with the mother-child relationship, social self-concept, and peer relationships in middle childhood. "Journal of Developmental Psychology, 54", 473–498.
29. ^ Thurber, C.A. & Weisz, J.R., (1997). "You can try or you can just give up": The impact of perceived control and coping style on childhood homesickness." Developmental Psychology, 33, 508–517.
30. ^ Byrnes, Paul (13 February 2016). "Brooklyn: An Irish twist on the agonies and ecstasy of a migrant's story". The Sydney Morning Herald. Retrieved 20 February 2016.
## External links[edit]
* "Preventing and Treating Homesickness" – Direct link to the American Academy of Pediatrics clinical report published in the journal "Pediatrics"
* v
* t
* e
Emotions (list)
Emotions
* Acceptance
* Adoration
* Aesthetic emotions
* Affection
* Agitation
* Agony
* Amusement
* Anger
* Angst
* Anguish
* Annoyance
* Anticipation
* Anxiety
* Apathy
* Arousal
* Attraction
* Awe
* Boredom
* Calmness
* Compassion
* Confidence
* Contempt
* Contentment
* Courage
* Cruelty
* Curiosity
* Defeat
* Depression
* Desire
* Despair
* Disappointment
* Disgust
* Distrust
* Ecstasy
* Embarrassment
* Vicarious
* Empathy
* Enthrallment
* Enthusiasm
* Envy
* Euphoria
* Excitement
* Fear
* Flow (psychology)
* Frustration
* Gratification
* Gratitude
* Greed
* Grief
* Guilt
* Happiness
* Hatred
* Hiraeth
* Homesickness
* Hope
* Horror
* Hostility
* Humiliation
* Hygge
* Hysteria
* Indulgence
* Infatuation
* Insecurity
* Inspiration
* Interest
* Irritation
* Isolation
* Jealousy
* Joy
* Kindness
* Loneliness
* Longing
* Love
* Limerence
* Lust
* Mono no aware
* Neglect
* Nostalgia
* Outrage
* Panic
* Passion
* Pity
* Self-pity
* Pleasure
* Pride
* Grandiosity
* Hubris
* Insult
* Vanity
* Rage
* Regret
* Social connection
* Rejection
* Remorse
* Resentment
* Sadness
* Melancholy
* Saudade
* Schadenfreude
* Sehnsucht
* Self-confidence
* Sentimentality
* Shame
* Shock
* Shyness
* Sorrow
* Spite
* Stress
* Suffering
* Surprise
* Sympathy
* Tenseness
* Trust
* Wonder
* Worry
World views
* Cynicism
* Defeatism
* Nihilism
* Optimism
* Pessimism
* Reclusion
* Weltschmerz
Related
* Affect
* consciousness
* in education
* measures
* in psychology
* Affective
* computing
* forecasting
* neuroscience
* science
* spectrum
* Affectivity
* positive
* negative
* Appeal to emotion
* Emotion
* and art
* and memory
* and music
* and sex
* classification
* evolution
* expressed
* functional accounts
* group
* homeostatic
* perception
* recognition
* in conversation
* in animals
* regulation
* interpersonal
* work
* Emotional
* aperture
* bias
* blackmail
* competence
* conflict
* contagion
* detachment
* dysregulation
* eating
* exhaustion
* expression
* intelligence
* and bullying
* intimacy
* isolation
* lability
* labor
* lateralization
* literacy
* prosody
* reasoning
* responsivity
* security
* selection
* symbiosis
* well-being
* Emotionality
* bounded
* Emotions
* and culture
* in decision-making
* in the workplace
* in virtual communication
* history
* moral
* self-conscious
* social
* social sharing
* sociology
* Feeling
* Gender and emotional expression
* Group affective tone
* Interactions between the emotional and executive brain systems
* Meta-emotion
* Pathognomy
* Pathos
* Social emotional development
* Stoic passions
* Theory
* affect
* appraisal
* discrete emotion
* somatic marker
* constructed emotion
Authority control
* GND: 4131811-0
* HDS: 017439
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Homesickness | c0019871 | 28,830 | wikipedia | https://en.wikipedia.org/wiki/Homesickness | 2021-01-18T19:05:47 | {"mesh": ["D008132"], "wikidata": ["Q1595931"]} |
Human disease
Premature ventricular contraction
Other namesPremature ventricular complex, ventricular premature contraction (complex or complexes) (VPC), ventricular premature beat (VPB), ventricular extrasystole (VES)
A premature ventricular contraction marked by the arrow.
SpecialtyCardiology
A premature ventricular contraction (PVC) is a relatively common event where the heartbeat is initiated by Purkinje fibers in the ventricles rather than by the sinoatrial node. PVCs may cause no symptoms or may be perceived as a "skipped beat" or felt as palpitations in the chest. Single beat PVCs do not usually pose a danger.[1]
The electrical events of the heart detected by the electrocardiogram (ECG) allow a PVC to be easily distinguished from a normal heart beat. However, very frequent PVCs can be symptomatic of an underlying heart condition (such as arrhythmogenic right ventricular cardiomyopathy). Furthermore, very frequent (over 20% of all heartbeats) PVCs are considered a risk factor for arrhythmia-induced cardiomyopathy, in which the heart muscle becomes less effective and symptoms of heart failure may develop.[2] Ultrasound of the heart is therefore recommended in people with PVCs.
If PVCs are frequent or troublesome, medication (beta blockers or certain calcium channel blockers) may be used. Very frequent PVCs in people with dilated cardiomyopathy may be treated with radiofrequency ablation.[2][1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 3.1 Molecular basis
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
Sounds of an irregular heartbeat.
Heart sounds of a 16 year old girl with premature ventricular contractions and other types of ectopic beats.
* * *
Problems playing this file? See media help.
Sound of a teen's heart during tachycardia.
Auscultation of a 14 year old female's racing heart during an episode of tachyarrhythmia. PVCs and other ectopic beats are audible in the recording.
* * *
Problems playing this file? See media help.
Although there are many possible symptoms associated with PVCs, PVCs may also have no symptoms at all. PVCs may be perceived as a skipped heart beat, a strong beat, palpitations, or lightheadedness. They may also cause chest pain, a faint feeling, fatigue, or hyperventilation after exercise.[2][3] Symptoms may be more pronounced at times of stress. Women may be more aware of PVCs at the time of the menstrual period.[2]
Premature ventricular contractions may be associated with underlying heart disease, and certain characteristics are therefore elicited routinely: the presence of signs of heart disease or a known history of heart disease (e.g. previous myocardial infarction), as well as heart disease or sudden cardiac death in close relatives. PVCs and palpitation associated with syncope (transient loss of consciousness) or provoked by exertion are also concerning.[2] Physical examination is focused on identifying evidence of underlying heart disease.[2]
## Causes[edit]
Premature ventricular contraction in an ECG (arrows)
Resulting "skipped beat" in the continuous blood pressure, recorded noninvasively.
Premature ventricular contractions can occur in a healthy person of any age, but are more prevalent in the elderly and in men.[4] In a very significant proportion of people they occur spontaneously with no known cause. Some possible underlying causes of PVCs include:
* Adrenaline excess[3]
* High blood calcium[4]
* Cardiomyopathy, hypertrophic or dilated[4]
* Certain medicines such as digoxin, which increases heart contraction or tricyclic antidepressants[4]
* Chemical (electrolyte) problems in the blood[5] (for example hypokalemia, which can occur in those taking diuretics ("water pills")[6] and hypomagnesaemia).
* Contact with the carina (trachea/bronchi) when performing medical suctioning stimulates vagus nerve
* Drugs such as:[4]
* Alcohol[7]
* Caffeine[8]
* Cocaine
* Nicotine
* Theobromine[9][unreliable medical source?]
* Myocardial infarction[3]
* Hypercapnia (CO2 poisoning)[4]
* Hypertension (high blood pressure)[10]
* Hypoxia[4]
* Lack of sleep/exhaustion[11]
* Mitral valve prolapse[4]
* Myocardial contusion[4]
* Myocarditis[4]
* Sarcoidosis[12]
* Smoking
* Stress[11]
## Pathophysiology[edit]
This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (May 2018) (Learn how and when to remove this template message)
Normally, impulses pass through both ventricles almost at the same time and the depolarization waves of the two ventricles partially cancel each other out in the ECG. However, when a PVC occurs the impulse nearly always travels through only one bundle fiber, so there is no neutralization effect; this results in the high voltage QRS wave in the electrocardiograph.
There are three main physiological explanations for premature ventricular contractions: enhanced ectopic nodal automaticity, re-entry signalling, and toxic/reperfusion triggered.
Ectopic enhanced nodal automaticity suggests foci of sub-pulmonic valvular pacemaker cells that have a subthreshold potential for firing. The basic rhythm of the heart raises these cells to threshold, which precipitates an ectopic beat. This process is the underlying mechanism for arrhythmias due to excess catecholamines and some electrolyte deficiencies, particularly low blood potassium, known as hypokalemia.
Reentry occurs when an area of 1-way block in the Purkinje fibers and a second area of slow conduction are present. This condition is frequently seen in patients with underlying heart disease that creates areas of differential conduction and recovery due to myocardial scarring or ischemia. During ventricular activation, one bundle tract's area of slow conduction activates the other tract's bundle fibers post block after the rest of the ventricle has recovered. This resulting in an extra beat. Reentry can produce single ectopic beats, or it can trigger paroxysmal tachycardia.
Triggered beats are considered to be due to after-depolarizations triggered by the preceding action potential. These are often seen in patients with ventricular arrhythmias due to digoxin toxicity and reperfusion therapy after myocardial infarction (MI).
This ectopy of the ventricles when associated with a structurally normal heart most commonly occurs from the right ventricular outflow tract under the pulmonic valve. The mechanism behind this is thought to be enhanced automaticity versus triggered activity.[4]
### Molecular basis[edit]
There are a number of different molecular explanations for PVCs.
* calcium excess: One explanation is most basically due to an increased amount of cyclic AMP(cAMP) in the muscle cells of the heart's ventricles leading to increased flow of calcium ions into the cell. This may happen for the following reasons:
* Activation of the sympathetic nervous system, due to anxiety and/or physiological stress, for example hypovolemia caused by dehydration or bleeding. This activation can cause a release of catecholamines such as epinephrine (adrenaline) which can bind to beta-1 adrenergic receptor (β1 receptors) on cardiac myocytes, activating a type of guanosine nucleotide-binding protein called Gs protein.[13] This type of protein stimulates the production of cAMP,[14] ultimately increasing the flow of calcium ions from the extracellular space and from the sarcoplasmic reticulum into the cytosol.[15]
This has the effect of (1) increasing the strength of contraction (inotropy) and (2) depolarizing the myocyte more rapidly (chronotropy). The ventricular myocytes are therefore more irritable than usual, and may depolarize spontaneously before the SA node depolarizes. Other sympathomimetic molecules such as amphetamines and cocaine will also cause this effect.
* Phosphodiesterase inhibitors such as caffeine directly affect the G-coupled signal transduction cascade[16] by inhibiting the enzyme that catalyzes the breakdown of cAMP,[13] again leading to the increased concentration of calcium ions in the cytosol.
* potassium deficiency: Potassium ion concentrations are a major determinant in the magnitude of the electrochemical potential of cells, and hypokalemia makes it more likely that cells will depolarize spontaneously. Hypercalcemia has a similar effect, although clinically it is of less concern.
* magnesium deficiency: Magnesium ions affect the flow of calcium ions, and they affect the function of the Na+/K+ ATPase, and are necessary for maintaining potassium levels. Low blood magnesium therefore also makes spontaneous depolarization more likely.
* myocardium damage: Existing damage to the myocardium can also provoke PVCs. The myocardial scarring that occurs in myocardial infarction and also in the surgical repair of congenital heart disease can disrupt the conduction system of the heart and may also irritate surrounding viable ventricular myocytes, make them more likely to depolarize spontaneously. Inflammation of the myocardium (as occurs in myocarditis) and systemic inflammation cause surges of cytokines, which can affect the electrical properties of myocytes and may be ultimately responsible for causing irritability of myocytes.
## Diagnosis[edit]
PVCs may be found incidentally on cardiac tests such as a 12-lead electrocardiogram (ECG/EKG) performed for another reason. In those with symptoms suggestive of premature ventricular complexes, the ECG/EKG is the first investigation that may identify PVCs as well as other cardiac rhythm issues that may cause similar symptoms. If symptoms are infrequent, other forms of continuous heart beat recording may be used, such as a 24- or 48-hour Holter monitor or even 14- to 30-day recorders if the symptoms are very occasional.[2] The advantage of these monitors is that they allow a quantification of the amount of abnormal beats ("burden") and ensure that there are no additional heart arrhythmias present that might require specific attention, such as ventricular tachycardia.[2] If symptoms are associated with exercise, a supervised cardiac stress test may be required to reproduce the abnormality. Specifically, if this shows exercise-induced ventricular tachycardia this would require specific treatment.[2] If PVCs are suppressed by exercise, this is an encouraging finding.[citation needed]
On electrocardiography (ECG or Holter) premature ventricular contractions have a specific appearance of the QRS complexes and T waves, which are different from normal readings. By definition, a PVC occurs earlier than the regular normally conducted beat. Subsequently, the time between the PVC and the next normal beat is longer as the result of a compensatory pause.[17] PVCs can be distinguished from premature atrial contractions because the compensatory pause is longer following premature ventricular contractions, in addition to a difference in QRS appearance.[18]
In some people, PVCs occur in a predictable pattern (either for long periods or persistently). Depending whether there are one, two, or three normal beats between each PVC, the rhythm is called bigeminy, trigeminy, or quadrigeminy. If 3 or more PVCs occur in a row it may be called ventricular tachycardia.[18] The precise shape of the QRS can give an indication as to where precisely in the heart muscle the abnormal electrical activity arises. If someone has PVCs that all have the same appearance, they are considered "monofocal", which is a more benign phenomenon. In contrast, if there are PVCs of multiple different appearances, they are labelled "multifocal"; this is a possible sign of a greater risk of complications.[2]
## Treatment[edit]
Isolated PVCs with benign characteristics and no underlying heart disease require no treatment, especially if there are limited symptoms.[2]
The most effective treatment is the elimination of triggers (particularly stopping the use of substances such as caffeine and certain drugs, like tobacco).[19]
* Medications
* Antiarrhythmics:[4] these agents alter the electrophysiologic mechanisms responsible for PVCs. In CAST study of survivors of myocardial infarction encainide and flecainide, it was shown that, though those drugs could suppress PVC, they also increased the risk of death. However, while[20] moricizine increased the death rate when used with diuretics, it reduced the frequency of deaths when it was used alone.[21]
* Beta blockers[3]
* Calcium channel blockers[3]
* Electrolytes replacement
* Magnesium supplements (e.g. magnesium citrate, orotate, Maalox, etc.)
* Potassium supplements (e.g. chloride potassium with citrate ion)
* Radiofrequency catheter ablation treatment.[3] It is advised for people with ventricular dysfunction and frequent arrhythmias or very frequent PVC (>20% in 24 h) and normal ventricular function.[22] This procedure is a way to destroy the area of the heart tissue that is causing the irregular contractions characteristic of PVCs using radio frequency energy.[6]
* Implantable cardioverter-defibrillator[20]
* Lifestyle modification
* Frequently stressed individuals should consider therapy, or joining a support group.
* Heart attacks can increase the likelihood of having PVCs.[3]
## Prognosis[edit]
In general, PVCs are harmless, but frequent PVCs may increase the risk of developing arrhythmias or cardiomyopathy, which can greatly and permanently impair heart function. On a more serious and severe scale, frequent PVCs can accompany underlying heart disease and lead to chaotic, dangerous heart rhythms .[23]
Asymptomatic patients who do not have heart disease have long-term prognoses very similar to the general population, but asymptomatic patients with ejection fractions greater than 40% have a 3.5% incidence of sustained ventricular tachycardia or cardiac arrest. Emerging data also suggest that very frequent ventricular ectopy may be associated with cardiomyopathy through a mechanism thought to be similar to that of chronic right ventricular pacing associated cardiomyopathy. And for patients with underlying chronic structural heart disease and complex ectopy, mortality is significantly increased.[4]
In meta-analysis of 11 studies, people with frequent PVC (≥ once during a standard electrocardiographic recording or ≥30 times over a 1-hour recording) had risk of cardiac death twice as great as that of participants without frequent PVC. Although most researchers attempted to exclude high-risk subjects, such as those with histories of cardiovascular disease, they did not test participants for underlying structural heart disease.[24]
In a study of 239 people with frequent PVCs (>1000 beats/day) and without structural heart disease (i.e. in the presence of normal heart function) there were no serious cardiac events through 5.6 years on average, but there was correlation between PVC prevalence and decrease of ejection fraction and increase of left ventricular diastolic dimension. In this study absence of heart of disease was established by echocardiography, cardiac magnetic resonance imaging in 63 persons and Holter monitoring.[25]
Another study has suggested that in the absence of structural heart disease even frequent (> 60/h or 1/min) and complex PVCs are associated with a benign prognosis.[20] It was study of 70 people followed by 6.5 years on average. Healthy status was verified by extensive noninvasive cardiologic examination, although cardiac catheterization of a subgroup disclosed serious coronary artery disease in 19%. Overall survival was better than expected.[26]
On the other hand, the Framingham Heart Study reported that PVCs in apparently healthy people were associated with a twofold increase in the risk of all-cause mortality, myocardial infarction and cardiac death.[20] In men with coronary heart disease and in women with or without coronary heart disease, complex or frequent arrhythmias were not associated with an increased risk.[27] The at-risk people might have subclinical coronary disease.[28] These Framingham results have been criticised for the lack of rigorous measures to exclude the potential confounder of underlying heart disease.[20]
In the ARIC study of 14,783 people followed for 15 to 17 years those with detected PVC during 2 minute ECG, and without hypertension or diabetes on the beginning, had risk of stroke increased by 109%.[29] Hypertension or diabetes, both risk factors for stroke, did not change significantly risk of stroke for people with PVC.[29] It is possible that PVCs identified those at risk of stroke with blood pressure and impaired glucose tolerance on a continuum of risk below conventional diagnostic thresholds for hypertension and diabetes.[29] Those in ARIC study with any PVC had risk of heart failure increased by 63%[30] and were > twice as likely to die from coronary heart disease (CHD). Risk was also higher for people with or without baseline CHD.[31]
In the Niigata study of 63,386 people with a 10-year follow-up period, subjects with PVC during a 10-second recording had triple the risk of atrial fibrillation of those without PVC, independently of these risk factors: age;male sex; high simple body mass index (a possible signifier of obesity); hypertension (systolic and diastolic blood pressure within certain abnormal limits); and diabetes.[32]
Reducing frequent PVC (>20%) by antiarrhythmic drugs or by catheter ablation significantly improves heart performance.[20][22]
Recent studies have shown that those subjects with extremely frequent PVCs (several thousand a day) can develop dilated cardiomyopathy. In these cases, if the PVCs are reduced or removed (for example, via ablation therapy) the cardiomyopathy usually regresses.[22][33]
## Epidemiology[edit]
Single PVCs are common in healthy persons. 41% of healthy volunteers below the age of 45 years have been found to have PVCs on 24-hour Holter ECG recording.[34] Rates vary by age with under 1% for those under the age of 11 and 69% in those older than 75 years.[35] These differences may be due to rates of high blood pressure and heart disease, which are more common in older persons.[36] In 101 people free of heart disease during 24 hours Holter monitoring, 39 had at least 1 PVC, and 4 at least 100. Heart disease was excluded after physical examination, chest x-ray, ECG, echocardiography, maximal exercise stress test, right- and left-heart catheterization and coronary angiography.[37] In 122,043 United States Air Force flyers and cadet applicants during approximately 48 seconds of ECG 0.78% (952 males) had PVC within all age groups, but with increased incidence with increasing age.[38] Ventricular ectopy is more prevalent in men than in women of the same age data from large, population-based studies indicate that the prevalence ranges from less than 3% for young white women without heart disease to almost 20% for older African American individuals with hypertension.[4]
## References[edit]
1. ^ a b Gerstenfeld, EP; De Marco, T (20 August 2019). "Premature Ventricular Contractions". Circulation. 140 (8): 624–626. doi:10.1161/CIRCULATIONAHA.119.040015. PMID 31424993.
2. ^ a b c d e f g h i j k Akdemir, B.; Yarmohammadi, H.; Alraies, M. C.; Adkisson, W. O. (1 July 2016). "Premature ventricular contractions: Reassure or refer?". Cleveland Clinic Journal of Medicine. 83 (7): 524–530. doi:10.3949/ccjm.83a.15090. PMID 27399865.
3. ^ a b c d e f g http://www.uptodate.com/patients/content/topic.do?topicKey=hrt_dis/11733,[dead link] Up-to-date
4. ^ a b c d e f g h i j k l m n Keany, James E.; Desai, Aseem D. (13 January 2017). Schraga, Erik D. (ed.). "Premature Ventricular Contraction". eMedicine.
5. ^ MedlinePlus Encyclopedia: Ectopic heartbeat
6. ^ a b Kulick, David Lee (23 March 2016). Shiel, William C., Jr. (ed.). "Premature Ventricular Contractions (PVCs, PVC): What causes premature ventricular contractions?". MedicineNet. Retrieved 2017-02-21.
7. ^ Emilsson, Kent (3 June 2008), "Suspected association of ventricular arrhythmia with air pollution in a motorbike rider: a case report", Journal of Medical Case Reports, 2: 192, doi:10.1186/1752-1947-2-192, PMC 2427047, PMID 18522736
8. ^ Mayo Clinic Staff (26 April 2014). "Premature ventricular contractions (PVCs) Causes". Mayo Clinic. Mayo Foundation for Medical Education and Research.
9. ^ Lebowitz, Michael. "Methylxanthine Toxcity Syndrome". Body Restoration: An Owner's Manual. Retrieved 25 January 2016.
10. ^ "Premature ventricular contractions (PVCs) Risk factors - Mayo Clinic". Mayo Clinic. Retrieved 2017-03-01.
11. ^ a b Guyton, Arthur C.; Hall, John E. (2006). Textbook of medical physiology (11th ed.). Philadelphia: Elsevier Saunders. p. 151. ISBN 0-7216-0240-1.
12. ^ Birnie, David H.; Sauer, William H.; Bogun, Frank; Cooper, Joshua M.; Culver, Daniel A.; Duvernoy, Claire S.; Judson, Marc A.; Kron, Jordana; Mehta, Davendra; Nielsen, Jens Cosedis; Patel, Amit R.; Ohe, Tohru; Raatikainen, Pekka; Soejima, Kyoko (July 2014), "HRS Expert Consensus Statement on the Diagnosis and Management of Arrhythmias Associated With Cardiac Sarcoidosis", Heart Rhythm, 11 (7): 1304–23, doi:10.1016/j.hrthm.2014.03.043, PMID 24819193
13. ^ a b Nelson & Cox 2008, p. 424
14. ^ Levy & Pappano 2007, p. 62
15. ^ Levy & Pappano 2007, p. 24
16. ^ Nelson & Cox 2008, p. 430
17. ^ Levy & Pappano 2007, pp. 49–50
18. ^ a b Haist, Steven A.; Gomella, Leonard G. (2004), "19 Basic ECG Reading: Ventricular Arrhythmias", Clinician's pocket reference, Lange Clinical Science Series (10th ed.), New York: McGraw-Hill, p. 390, ISBN 0-07-140255-1, OCLC 53929979
19. ^ "Premature ventricular contractions (PVCs) Treatments and drugs - Mayo Clinic". Mayo Clinic. Retrieved 2017-04-20.
20. ^ a b c d e f G André Ng (2006). "Treating patients with ventricular ectopic beats". Heart. 92 (11): 1707–12. doi:10.1136/hrt.2005.067843. PMC 1861260. PMID 17041126.
21. ^ Anderson, JL; Platia, EV; Hallstrom, A; Henthorn, RW; Buckingham, TA; Carlson, MD; Carson, PE (December 1994). "Interaction of baseline characteristics with the hazard of encainide, flecainide, and moricizine therapy in patients with myocardial infarction. A possible explanation for increased mortality in the Cardiac Arrhythmia Suppression Trial (CAST)". Circulation. 90 (6): 2843–52. doi:10.1161/01.cir.90.6.2843. PMID 7994829.
22. ^ a b c Belhassen B (2005). "Radiofrequency ablation of "benign" right ventricular outflow tract extrasystoles: a therapy that has found its disease?". J. Am. Coll. Cardiol. 45 (8): 1266–8. doi:10.1016/j.jacc.2005.01.028. PMID 15837260.
23. ^ "Premature ventricular contractions (PVCs) Complications - Mayo Clinic". Mayo Clinic. Retrieved 2017-04-19.
24. ^ Ataklte, F; Erqou, S; Laukkanen, J; Kaptoge, S (15 October 2013). "Meta-analysis of ventricular premature complexes and their relation to cardiac mortality in general populations". The American Journal of Cardiology. 112 (8): 1263–70. doi:10.1016/j.amjcard.2013.05.065. PMID 23927786.
25. ^ Niwano, S; Wakisaka, Y; Niwano, H; Fukaya, H; Kurokawa, S; Kiryu, M; Hatakeyama, Y; Izumi, T (August 2009). "Prognostic significance of frequent premature ventricular contractions originating from the ventricular outflow tract in patients with normal left ventricular function". Heart. 95 (15): 1230–7. doi:10.1136/hrt.2008.159558. PMID 19429571.
26. ^ Kennedy, HL; Whitlock, JA; Sprague, MK; Kennedy, LJ; Buckingham, TA; Goldberg, RJ (24 January 1985). "Long-term follow-up of asymptomatic healthy subjects with frequent and complex ventricular ectopy". The New England Journal of Medicine. 312 (4): 193–7. doi:10.1056/nejm198501243120401. PMID 2578212.
27. ^ Bikkina, M; Larson, MG; Levy, D (15 December 1992). "Prognostic implications of asymptomatic ventricular arrhythmias: the Framingham Heart Study". Annals of Internal Medicine. 117 (12): 990–6. doi:10.7326/0003-4819-117-12-990. PMID 1280018.
28. ^ Moss, AJ (15 December 1992). "Asymptomatic ventricular arrhythmias in healthy persons: smoke or smoke screen?". Annals of Internal Medicine. 117 (12): 1053–4. doi:10.7326/0003-4819-117-12-1053. PMID 1443975.
29. ^ a b c Worthington, JM; Gattellari, M; Leung, DY (April 2010). "'Where there's smoke ...': are premature ventricular complexes a new risk factor for stroke?". Stroke: A Journal of Cerebral Circulation. 41 (4): 572–3. doi:10.1161/strokeaha.109.574426. PMID 20167909.
30. ^ Agarwal, SK; Simpson RJ, Jr; Rautaharju, P; Alonso, A; Shahar, E; Massing, M; Saba, S; Heiss, G (1 January 2012). "Relation of ventricular premature complexes to heart failure (from the Atherosclerosis Risk In Communities [ARIC] Study)". The American Journal of Cardiology. 109 (1): 105–9. doi:10.1016/j.amjcard.2011.08.009. PMC 3242884. PMID 21945138.
31. ^ Massing, MW; Simpson RJ, Jr; Rautaharju, PM; Schreiner, PJ; Crow, R; Heiss, G (15 December 2006). "Usefulness of ventricular premature complexes to predict coronary heart disease events and mortality (from the Atherosclerosis Risk In Communities cohort)". The American Journal of Cardiology. 98 (12): 1609–12. doi:10.1016/j.amjcard.2006.06.061. PMID 17145219.
32. ^ Watanabe, H; Tanabe, N; Makiyama, Y; Chopra, SS; Okura, Y; Suzuki, H; Matsui, K; Watanabe, T; Kurashina, Y; Aizawa, Y (October 2006). "ST-segment abnormalities and premature complexes are predictors of new-onset atrial fibrillation: the Niigata preventive medicine study". American Heart Journal. 152 (4): 731–5. doi:10.1016/j.ahj.2006.05.032. PMID 16996849.
33. ^ Shiraishi H, Ishibashi K, Urao N, Tsukamoto M, Hyogo M, Keira N, Hirasaki S, Shirayama T, Nakagawa M (2002). "A case of cardiomyopathy induced by premature ventricular complexes". Circ. J. 66 (11): 1065–7. doi:10.1253/circj.66.1065. PMID 12419942.
34. ^ Pooja Hingorani et. al: Arrhythmias Seen in Baseline 24‐Hour Holter ECG Recordings in Healthy Normal Volunteers During Phase 1 Clinical Trials (2015); 56 (7), p. 885–893; doi:10.1002/jcph.679
35. ^ Cha, Yong-Mei; Lee, Glenn K.; Klarich, Kyle W.; Grogan, Martha (February 2012). "Premature Ventricular Contraction-Induced Cardiomyopathy". Circulation: Arrhythmia and Electrophysiology. 5 (1): 229–236. doi:10.1161/CIRCEP.111.963348. ISSN 1941-3149. PMID 22334430.
36. ^ Kulick, David Lee (23 March 2016). Shiel, William C., Jr. (ed.). "Premature Ventricular Contractions (PVCs, PVC): What happens during a premature ventricular contraction?". MedicineNet. Retrieved 2017-02-21.
37. ^ Kostis, J.B.; McCrone, K.; Moreyra, A.E.; Gotzoyannis, S.; Aglitz, N.M.; Natarajan, N.; Kuo, P.T. (June 1981). "Premature ventricular complexes in the absence of identifiable heart disease". Circulation. 63 (6): 1351–1356. doi:10.1161/01.CIR.63.6.1351. PMID 7226480.
38. ^ Hiss, Roland G.; Lamb, Lawrence E. (June 1962). "Electrocardiographic Findings in 122,043 Individuals". Circulation. 25 (6): 947–961. doi:10.1161/01.CIR.25.6.947. PMID 13907778.
## Further reading[edit]
* Levy, Matthew N.; Pappano, Achilles J. (2007). Cardiovascular physiology. Mosby physiology monograph series (9th ed.). Philadelphia: Mosby Elsevier. ISBN 978-0-323-03446-3. OCLC 63660993.
* Nelson, David L.; Cox, Michael M. (2008). "Biosignaling". Lehninger Principles of Biochemistry (5th ed.). New York: W.H. Freeman. pp. 419–484. ISBN 978-0-7167-7108-1. OCLC 957377043 – via Google Books.
## External links[edit]
Classification
D
* ICD-10: I49.3
* ICD-9-CM: 427.69
* MeSH: D018879
* DiseasesDB: 32412
External resources
* eMedicine: emerg/773
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Premature ventricular contraction | c0151636 | 28,831 | wikipedia | https://en.wikipedia.org/wiki/Premature_ventricular_contraction | 2021-01-18T18:48:00 | {"mesh": ["D018879"], "umls": ["C0151636"], "icd-10": ["I49.3"], "wikidata": ["Q26781137"]} |
A number sign (#) is used with this entry because of evidence that Warburg Micro syndrome-2 (WARBM2) is caused by homozygous mutation in the RAB3GAP2 gene (609275) on chromosome 1q41.
Martsolf syndrome (212720), a clinically overlapping but milder disorder, is also caused by mutation in the RAB3GAP2 gene.
For a general phenotypic description and a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118.
Clinical Features
Borck et al. (2011) reported a girl from a consanguineous Turkish family with Warburg Micro syndrome who presented with congenital cataracts, microphthalmia, absent visual evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.
Molecular Genetics
In a girl from a consanguineous Turkish family with Warburg Micro syndrome, Borck et al. (2011) identified homozygosity for a small in-frame deletion in the RAB3GAP2 gene (609275.0002). The parents were heterozygous carriers of the mutation, which was not found in 188 Turkish and 170 German control chromosomes. Analysis of RAB3GAP2 in 10 additional unrelated children with suspected Warburg Micro syndrome who were negative for mutation in the RAB3GAP1 (602536) gene revealed no further mutations.
In affected individuals from 7 families with the typical features of Warburg Micro syndrome, Handley et al. (2013) identified homozygosity for mutations in the RAB3GAP2 gene (see, e.g., 609275.0004-609275.0006).
Genotype/Phenotype Correlations
Handley et al. (2013) reviewed brain MRI findings in 17 patients with mutations in the RAB3GAP1, RAB3GAP2, and RAB18 (602207) genes. While brain findings were remarkably similar among the patients, the overall impression was of a relatively milder brain phenotype in the 9 patients with mutations in RAB3GAP2, with frontal polymicrogyria mostly not extending beyond the perisylvian fissure to the temporal and occipital lobes, no apparent white matter loss, and no cerebellar or cerebellar vermis hypoplasia.
INHERITANCE \- Autosomal recessive GROWTH Height \- Postnatal growth retardation HEAD & NECK Head \- Postnatal microcephaly \- Brachycephaly Face \- Low anterior hairline Ears \- Large ears \- Asymmetric ears Eyes \- Congenital cataracts, bilateral \- Microphthalmia \- Microcornea \- Atonic pupils \- Optic nerve atrophy \- Absent visual evoked potentials Nose \- Short nose \- Prominent nasal root GENITOURINARY External Genitalia (Male) \- Micropenis \- Scrotal hypoplasia External Genitalia (Female) \- Hypoplasia of labia majora Internal Genitalia (Male) \- Cryptorchidism SKELETAL Skull \- Microcephaly, postnatal Limbs \- Contractures Feet \- Overlapping toes SKIN, NAILS, & HAIR Hair \- Low anterior hairline NEUROLOGIC Central Nervous System \- Global developmental delay \- Severe mental retardation \- Minimal to absent speech \- Axial hypotonia \- Progressive spastic diplegia to quadriplegia \- Generalized brain atrophy \- Frontotemporal polymicrogyria \- Wide Sylvian fissures \- Hypoplastic corpus callosum \- Increased subdural space around frontal lobes MOLECULAR BASIS \- Caused by mutation in the RAB3 GTPase-activating protein (noncatalytic) subunit 2 gene (RAB3GAP2, 609275.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| WARBURG MICRO SYNDROME 2 | c1838625 | 28,832 | omim | https://www.omim.org/entry/614225 | 2019-09-22T15:55:59 | {"doid": ["0110717"], "mesh": ["C536681"], "omim": ["614225"], "orphanet": ["2510"], "synonyms": ["Alternative titles", "MICRO SYNDROME 2"], "genereviews": ["NBK475670"]} |
## Clinical Features
Christian et al. (1975) described a mother and daughter with a syndrome of metacarpal and metatarsal asymmetry, platyspondyly, carpal and tarsal fusions, syndactyly, articular dysplasia, and platyspondyly. The most striking finding was asymmetry in length of the second metacarpals and metatarsals. For example, the daughter had short left second metacarpal and short right second metatarsal, their counterparts on the other side being abnormally long.
Garcia-Cruz et al. (1995) reported a mother and daughter with a similar syndrome characterized by proximal and distal flexion contractures in the phalanges and by brachydactyly, clinodactyly, and ulnar and radial subdislocations of the fingers. Radiologically, the second metacarpal in the daughter was longer than the other metacarpals, with bone-carpal fusion and flexion contractures of the fingers of both hands. Thoracolumbar kyphoscoliosis and malformed vertebrae with dyssegmentation of L2-L3, cuneiform shape of T12 and L1, asymmetry of the pelvic bones, and exostotic lesions in the proximal third of the tibia and the distal third of the femur were also noted. The authors referred to the disorder as Christian spondylodigital syndrome.
Skel \- Metacarpal and metatarsal asymmetry \- Carpal and tarsal fusions \- Platyspondyly Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SECOND METATARSAL-METACARPAL SYNDROME | c1849259 | 28,833 | omim | https://www.omim.org/entry/269630 | 2019-09-22T16:22:26 | {"mesh": ["C564824"], "omim": ["269630"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "HIV/AIDS in the Dominican Republic" – news · newspapers · books · scholar · JSTOR (September 2010) (Learn how and when to remove this template message)
The Dominican Republic has a 0.7 percent prevalence rate of HIV/AIDS, among the lowest percentage-wise in the Caribbean region. However, it has the second most cases in the Caribbean region in total (after Haiti),[1] with an estimated 46,000 HIV/AIDS-positive Dominicans as of 2013 (the Dominican Republic is the second most populated Caribbean nation).[2]
## Prevalence[edit]
The U.S. Agency for International Development (USAID) reports that some urban areas of the Dominican Republic have HIV/AIDS infection rates well in excess of 10%.[1]
In some parts of the Dominican Republic, HIV/AIDS has become one of the leading cause of death among teenagers and adults between 15–49 years old. [2] [3] Adult women living with HIV/AIDS are estimated at 23,000. [4] HIV prevalence in pregnant women had been relatively stable for a number of years. However, 2005 sentinel surveillance reported HIV prevalence of more than 4.5 percent in pregnant women at two sites. In 2006, sentinel surveillance of pregnant women of all ages reported seroprevalence of 3.4 percent at four sites and 5.9 percent at one site. However, in the Santo Domingo National District, antenatal clinics have noted a decline in prevalence, probably because of a successful prevention campaign.[3]
HIV/AIDS was first reported in the Dominican Republic in 1983 and continued spreading until the mid-1990s, when prevalence started to decrease. However, due to sex tourism, child sex tourism, and prostitution in tourism industry workers, spread of the epidemic began to increase again. [5] Heterosexual intercourse reportedly the primary form of transmission of the disease, accounting for 81 percent of HIV infections in 15- to 44-year-olds of both sexes. However, because of strong stigma against homosexuality, it is possible that the number of infections resulting from men having sex with men, or male child prostitutes, may be higher than listed or may simply go unreported.
In addition to an increase in sex tourism [6], the country’s epidemic is driven by people with multiple sex partners, younger women in union with older men, sex workers and their clients and partners, and men who have sex with men (MSM). According to the 2002 Demographic and Health Survey, 29 percent of men had sex with more than one partner in the preceding 12 months. According to UNAIDS, females under 24 years of age are twice as likely to contract HIV as their male counterparts. This is in part due to young women having relationships with older men, who are more likely to have acquired HIV/AIDS from previous partners or exposure. A sentinel surveillance study in 2006 reported that prevalence among prostitutes, or commercial sex workers (CSWs), is 4.1 percent (2.4 to 6.5 percent, depending on location). In some sites, the prevalence among is declining and equals that of pregnant women. For example, in Santo Domingo, prevalence in sex workers has been decreasing for the last eight years and is reaching the same level as in pregnant women nationally. This may be attributable to the successful implementation of the “100% Condom Strategy” by two nongovernmental organizations (NGOs) in several provinces. For example, one community project in Santo Domingo in 2006 demonstrated an increase in condom use among sex workers, from 75 percent to 94 percent in just 12 months. According to the 2005 World Health Organization (WHO)/UNAIDS AIDS Epidemic Update, a 2004 study in Puerto Plata, Samana, and Santo Domingo found that 11 percent of MSM were HIV-positive. Infection levels among sugar cane plantation workers living in communities called bateyes average 5 percent, with some groups as high as 12 percent.[3]
According to WHO, the estimated incidence rate of tuberculosis (TB) in the Dominican Republic (40 cases per 100,000 people in 2005) is one of the highest in the Americas. Data on HIV-TB co-infection, albeit limited to certain areas of the country, suggest that 6 to 11 percent of TB patients are infected with HIV. Therefore, the Dominican Republic has the potential for a burgeoning epidemic of TB along with HIV. National HIV-TB guidelines have been recently developed and HIV-TB activities have been included in national plans. While the country has introduced some HIV-TB collaborative activities (e.g., isoniazid prophylaxis for HIV-infected people and provision of antiretroviral therapy [ART]), there are no data on the number of HIV-infected TB patients receiving ART.[3]
Factors that put the Dominican Republic at risk of a growing epidemic include early age at sexual debut, high birth rates among adolescent girls and young women, the high TB incidence, and active migration (including migration between cities and countryside, migration from Haiti, and migration to and from the United States). The Dominican Republic’s popularity as a tourist destination, coupled with increasing levels of sex tourism, also contributes to the spread of HIV. These and other factors suggest the need to target interventions to young adults, provinces with a high rate of tourism, and bateyes.[3]
## National response[edit]
The Government of the Dominican Republic has responded aggressively to the HIV/AIDS epidemic. Established in 2000, the Presidential Council on AIDS (COPRESIDA) coordinates the HIV/AIDS National Strategic Plan for the Prevention and Control of HIV/AIDS and STDs 2007–2015. COPRESIDA’s activities include implementing public policies, providing care for those living with HIV/AIDS, promoting private sector involvement in response to the epidemic, and reducing stigma and discrimination (S&D). The Ministry of Health (MOH) implements HIV/AIDS services and diagnostic tests in the public sector. The National AIDS Program (NAP) develops HIV/AIDS-related norms, protocols, and surveillance.[3]
National-level government-directed activities include the following:[3]
* Conducting information, education, and communication campaigns
* Coordinating care and support for people living with HIV/AIDS (PLWHA)
* Reducing mother-to-child transmission
* Ensuring blood supply safety
* Monitoring and evaluating national and provincial health plans
* Distributing condoms to at-risk individuals[3]
Since 1995, an AIDS law has made it illegal to discriminate against PLWHA. The law is unique for the region; however, enforcement is uneven and inconsistent, and S&D against PLWHA and those engaging in behaviors putting them most at risk for HIV/AIDS are common.[3]
The government works with a number of international donors to combat HIV/AIDS, including the William J. Clinton Foundation, UNICEF, the United Nations Population Fund, the World Bank, and the Global Fund to Fight AIDS, Tuberculosis and Malaria. In 2004, the Dominican Republic received a second-round grant from the Global Fund to scale up HIV services throughout the country, with particular focus on vulnerable groups, including female sex workers, MSM, and migrants. With Global Fund support, the government also intends to scale up ART.[3]
## References[edit]
1. ^ "Caribbean HIV & AIDS Statistics".
2. ^ http://data.worldbank.org/indicator/SH.DYN.AIDS.ZS
3. ^ a b c d e f g h i "Health Profile: Dominican Republic" Archived 2008-09-13 at the Wayback Machine. United States Agency for International Development (June 2008). Accessed September 7, 2008. This article incorporates text from this source, which is in the public domain.
* v
* t
* e
HIV/AIDS in North America
Sovereign states
* Antigua and Barbuda
* Bahamas
* Barbados
* Belize
* Canada
* Costa Rica
* Cuba
* Dominica
* Dominican Republic
* El Salvador
* Grenada
* Guatemala
* Haiti
* Honduras
* Jamaica
* Mexico
* Nicaragua
* Panama
* Saint Kitts and Nevis
* Saint Lucia
* Saint Vincent and the Grenadines
* Trinidad and Tobago
* United States
Dependencies and
other territories
* Anguilla
* Aruba
* Bermuda
* Bonaire
* British Virgin Islands
* Cayman Islands
* Curaçao
* Greenland
* Guadeloupe
* Martinique
* Montserrat
* Puerto Rico
* Saint Barthélemy
* Saint Martin
* Saint Pierre and Miquelon
* Saba
* Sint Eustatius
* Sint Maarten
* Turks and Caicos Islands
* United States Virgin Islands
* v
* t
* e
HIV/AIDS topics
HIV/AIDS
HIV
* HIV
* Lentivirus
* structure and genome
* subtypes
* CDC classification
* disease progression rates
* HIV/AIDS
* diagnosis
* management
* pathophysiology
* prevention
* research
* vaccination
* PrEP
* WHO disease staging system for HIV infection and disease
* Children
* Teens / Adults
* Countries by AIDS prevalence rate
Conditions
* Signs and symptoms
* AIDS-defining clinical condition
* Diffuse infiltrative lymphocytosis syndrome
* Lipodystrophy
* Nephropathy
* Neurocognitive disorders
* Pruritus
* Superinfection
* Tuberculosis co-infection
* HIV Drug Resistance Database
* Innate resistance to HIV
* Serostatus
* HIV-positive people
* Nutrition
* Pregnancy
History
* History
* Epidemiology
* Multiple sex partners
* Timeline
* AIDS Museum
* Timothy Ray Brown
* Women and HIV/AIDS
Social
* AIDS orphan
* Catholic Church and HIV/AIDS
* Circumcision and HIV
* Criminal transmission
* Discrimination against people
* Economic impact
* Cost of treatment
* HIV-affected community
* HIV/AIDS activism
* HIV/AIDS denialism
* Red ribbon
* Safe sex
* Sex education
* List of HIV-positive people
* People With AIDS Self-Empowerment Movement
* HIV/AIDS in the porn industry
Culture
* Discredited HIV/AIDS origins theories
* International AIDS Conference
* International AIDS Society
* Joint United Nations Programme on HIV/AIDS (UNAIDS)
* Media portrayal of HIV/AIDS
* Misconceptions about HIV/AIDS
* President's Emergency Plan for AIDS Relief (PEPFAR)
* The SING Campaign
* Solidays
* Treatment Action Campaign
* World AIDS Day
* YAA/Youthforce
* "Free Me"
* Larry Kramer
* Gay Men's Health Crisis
* ACT UP
* Silence=Death Project
HIV/AIDS pandemic by region / country
Africa
* Angola
* Benin
* Botswana
* Democratic Republic of the Congo
* Egypt
* Eswatini
* Ethiopia
* Ghana
* Guinea
* Côte d'Ivoire (Ivory Coast)
* Kenya
* Lesotho
* Madagascar
* Malawi
* Mali
* Mozambique
* Namibia
* Niger
* Nigeria
* Rwanda
* Senegal
* Tanzania
* South Africa
* Uganda
* Zambia
* Zimbabwe
North America
* Canada
* Mexico
* El Salvador
* Guatemala
* Honduras
* Nicaragua
United States
* New York City
Caribbean
* Haiti
* Jamaica
* Dominican Republic
South America
* Bolivia
* Brazil
* Colombia
* Guyana
* Peru
Asia
* Afghanistan
* Armenia
* Azerbaijan
* Bahrain
* Bangladesh
* Bhutan
* Cambodia
* China (PRC) (Yunnan)
* East Timor
* India
* Indonesia
* Iran
* Iraq
* Japan
* Jordan
* North Korea
* Laos
* Malaysia
* Myanmar (Burma)
* Nepal
* Pakistan
* Philippines
* Saudi Arabia
* Sri Lanka
* Taiwan (ROC)
* Thailand
* United Arab Emirates
* Turkey
* Vietnam
Europe
* United Kingdom
* Russia
* Ukraine
Oceania
* Australia
* New Zealand
* Papua New Guinea
* List of countries by HIV/AIDS adult prevalence rate
* List of HIV/AIDS cases and deaths registered by region
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HIV/AIDS in the Dominican Republic | None | 28,834 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_the_Dominican_Republic | 2021-01-18T18:57:10 | {"wikidata": ["Q5629900"]} |
Stokes-Adams syndrome
Other namesAdams–Stokes syndrome, Gerbezius–Morgagni–Adams–Stokes syndrome and Gerbec–Morgagni–Adams–Stokes syndrome[1]
SpecialtyCardiology
Stokes–Adams syndrome or Adams–Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block or other high-grade arrhythmia that results in loss of spontaneous circulation and inadequate blood flow to the brain. Subsequently named after two Irish physicians, Robert Adams (1791–1875)[2] and William Stokes (1804–1877),[3] the first description of the syndrome is believed to have been published in 1717 by the Carniolan physician of Slovene descent Marko Gerbec. It is characterized by an abrupt decrease in cardiac output and loss of consciousness due to a transient arrhythmia; for example, bradycardia due to complete heart block.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 References
* 7 External links
## Signs and symptoms[edit]
Typically an attack occurs without warning, leading to sudden loss of consciousness.[4] Prior to an attack, a patient may be pale with hypoperfusion. Abnormal movements may be present, typically consisting of twitching after 15–20 seconds of unconsciousness. (These movements, which are not seizures, occur because of brainstem hypoxia and not due to cortical discharge as is the case for epileptiform seizures). Breathing typically continues normally throughout the attack, and, upon recovery, the patient becomes flushed as the heart rapidly pumps the oxygenated blood from the pulmonary beds into the systemic circulation, which has become dilated due to hypoxia.[5]
As with any syncopal episode that results from a cardiac dysrhythmia, the fainting does not depend on the patient's position. If it occurs during sleep, the presenting symptom may simply be feeling hot and flushed on waking.[5][6]
## Causes[edit]
The attacks are caused by any temporary lack of cardiac output caused by a transient abnormal heart rhythm. Paroxysmal supraventricular tachycardia or atrial fibrillation has been reported as the underlying cause in up to 5% of patients in one series. The resulting lack of blood flow to the brain is responsible for the loss of consciousness and associated fainting episode.
## Diagnosis[edit]
Stokes–Adams attacks may be diagnosed from the history, with paleness prior to the attack and flushing after it particularly characteristic. The ECG will show complete heart block, high grade AV block, or other malignant arrhythmia during the attacks.
## Treatment[edit]
Initial treatment can be medical, involving the use of drugs like isoprenaline (Isuprel) and epinephrine (adrenaline). Temporary cardiac pacing may also be used in a closely monitored setting. However, definitive treatment includes the insertion of a permanent cardiac pacemaker.[7]
## Prognosis[edit]
If undiagnosed (or untreated), Stokes–Adams attacks have a 50% mortality within a year of the first episode. The prognosis following treatment is very good.[citation needed]
## References[edit]
1. ^ synd/1158 at Who Named It?
2. ^ R. Adams. Cases of Diseases of the Heart, Accompanied with Pathological Observations. Dublin Hospital Reports, 1827, 4: 353–453.
3. ^ W. Stokes. Observations on some cases of permanently slow pulse. Dublin Quarterly Journal of Medical Science, 1846, 2: 73–85.
4. ^ "Stokes-Adams; Adams-Stokes; Morgagni-Adams-Stokes Attacks". patient.info.
5. ^ a b Katz, Jason; Patel, Chetan (2006). Parkland Manual of Inpatient Medicine. Dallas, TX: FA Davis. p. 903.
6. ^ ADams and victor's principles of neurology
7. ^ Chart 63: Faintness and Fainting, page 161, ISBN 0-86318-864-8
## External links[edit]
Classification
D
* ICD-10: I45.9
* ICD-9-CM: 426.9
* MeSH: D000219
* DiseasesDB: 12443
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Adams–Stokes syndrome | c0001396 | 28,835 | wikipedia | https://en.wikipedia.org/wiki/Adams%E2%80%93Stokes_syndrome | 2021-01-18T18:43:14 | {"mesh": ["D000219"], "icd-9": ["426.9"], "icd-10": ["I45.9"], "wikidata": ["Q277254"]} |
A number sign (#) is used with this entry because this dysmorphic condition is caused by tetrasomy of chromosome 15q26-qter.
Clinical Features
Levy et al. (2012) reported 4 patients with tetrasomy 15q26 and reviewed the literature describing an additional 10 cases. They compared the tetrasomy phenotype with that of Shprintzen-Goldberg syndrome (182212) and found that the facial gestalt was different. All 4 cases of Levy et al. (2012) had no evidence of mosaicism. Among all reports there were an equal number of males and females. The ages at which the patients were evaluated ranged from 9 to 32 years for the cases of Levy et al. (2012), and from in utero to 10 years for the reviewed cases. The in utero reports noted in utero growth restriction (IUGR); all other patients had normal or increased birth weight, with normal or increased birth length. All 4 cases reported by Levy et al. (2012) and an additional 4 patients had a typical craniofacial gestalt which included low-set dysplastic ears, hypertelorism and/or telecanthus, downslanting palpebral fissures, coarse asymmetric facies, prominent nose with broad nasal root, and a prominent chin. All patients in whom evaluation was possible had developmental delay. The 4 patients reported by Levy et al. (2012) and the majority of the others had craniosynostosis and/or skull deformity. Most had micro/retrognathia. Central nervous system (CNS) abnormalities were present in 6 of 7 in whom evaluation was performed and included hydrocephalus, Dandy-Walker malformation, syrinx, and brain atrophy. None had hernia. The majority had arachnodactyly and/or camptodactyly/contractures. Only 1 patient had a pectus abnormality. None of those reported by Levy et al. (2012), but 3 of the others, had a congenital heart defect. All 4 of the patients reported by Levy et al. (2012) but only 1 of the others had kyphosis/scoliosis. The vast majority had renal anomalies including horseshoe kidneys, obstructive uropathy, and hydronephrosis; 1 patient had bilateral Wilms tumor. Levy et al. (2012) concluded that the hallmark features of tetrasomy 15q26 include severe developmental delay, craniosynostosis, marfanoid habitus, coarse asymmetric facies, prominent nose with broad nasal root, and prominent chin. Renal anomalies strongly implicate aneusomy of distal 15q, but may be absent if the breakpoint lies distal to 15q25.3. Levy et al. (2012) noted clinical similarity between tetrasomy 15q26, Shprintzen-Goldberg syndrome, and Loeys-Dietz syndrome (see 609192) and recommended that all 3 of these syndromes be included in the differential diagnosis.
Cytogenetics
Four patients described by Levy et al. (2012) had tetrasomy 15q26 in the form of an inverted duplicated supernumerary chromosome with a neocentromere. In all cases the duplicated part of 15q ended at position 100,276,767, but the start sites of the duplication varied, with the most proximal being at 82,937,406, resulting in a tetrasomic region of 17.3 Mb (15q25.2-q26.3), and the most distal at 88,847,491, resulting in a tetrasomic region of 11.4 Mb (15q26.1-q26.3).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| TETRASOMY 15q26 | c3553858 | 28,836 | omim | https://www.omim.org/entry/614846 | 2019-09-22T15:54:02 | {"omim": ["614846"], "orphanet": ["314585", "314588"], "synonyms": ["LEVY-SHANSKE SYNDROME", "Tetrasomy 15(q25-qter)", "Alternative titles", "Tetrasomy 15q26"]} |
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.
## Epidemiology
Incidence of permanent CH varies widely with geographic location with reported incidences between 1/800 and 1/10,000 live births and an average incidence of 1/3,000 live births.
## Clinical description
The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own.More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment CH results in severe intellectual deficit and short stature.
## Etiology
Permanent CH has a variety of primary, secondary and peripheral causes and may occur as part of a syndrome (primary, secondary, peripheral or syndromic hypothyroidism; see these terms). Primary causes include defects in thyroid gland development (thyroid dysgenesis; see this term), deficiencies in thyroid hormone production (thyroid dyshormonogenesis; see this term), or defects of thyroid-stimulating hormone (TSH) binding or signal transduction (due to TSH receptor mutations; see this term). Secondary or central CH is most commonly due to a pituitary defect. Other causes include isolated TSH deficiency (see this term), which is transmitted in an autosomal recessive manner and is caused by mutations in the TSH beta subunit gene (1p13), by thyrotropin releasing hormone (TRH) resistance (see this term), which results from mutations in the TRH receptor gene (TRHR; 8q23), or by mutations in genes regulating pituitary gland development (see this term) including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). Peripheral CH (see this term) may be caused by peripheral resistance to the action of thyroid hormone (see this term), of which 90% of cases are due to dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. The majority of these individuals have normal thyroid function but some hypothyroid individuals have been described. Peripheral hypothyroidism may also be caused by defects in thyroid hormone transport, such as in Allan-Herndon-Dudley syndrome (see this term) where X-linked peripheral hypothyroidism is associated with intellectual deficiency and neurologic abnormalities including quadriplegia. Permanent CH may also be associated with a syndrome such as Pendred or Bamforth syndromes among others (see these terms).
## Management and treatment
Recombinant human TSH (rhTSH) may be of use in the future confirmation of permanent CH. If at any time after the first 6 months of age, the serum TSH rises above 20mU/L due to undertreatment, permanent CH is assumed. If permanent CH has not been established by 2-3 years of age a 30 day trial off l-thyroxine therapy is recommended. If serum or free T4 is low and TSH elevated, permanent CH is confirmed and the patient is restarted on therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Permanent congenital hypothyroidism | None | 28,837 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=226292 | 2021-01-23T17:13:35 | {"icd-10": ["E03.0", "E03.1"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial DNA depletion syndrome-14 (MTDPS14) is caused by homozygous mutation in the OPA1 gene (605290) on chromosome 3q29. One such family has been reported.
Compound heterozygous mutations in the OPA1 gene can also cause Behr syndrome (BEHRS; 210000), which shows less severe, but overlapping features.
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).
Clinical Features
Spiegel et al. (2016) reported 2 sisters, born of consanguineous Arab parents, with a severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy. The patients showed hypotonia and peripheral hypertonia with opisthotonic posturing from birth, as well as feeding difficulties and profound neurodevelopmental delay. One patient had a weak cry and abnormal eye pursuits; optic atrophy was not noted. Serum lactate and alanine were elevated, but cerebrospinal fluid (CSF) lactate was normal. She developed progressive nonobstructive hypertrophic cardiomyopathy and died at age 10 months. The other patient had increased serum and CSF lactate, hypotonia with muscle wasting, sensorineural deafness, optic atrophy, and progressive cardiomyopathy. She died at age 11 months. Skeletal muscle biopsies were apparently morphologically normal, but there was a global decrease in all mitochondrial respiratory chain activities, with complexes I and IV being the most affected. Muscle biopsies from both patients also showed significant mtDNA depletion, with a 78% decrease compared to controls. Electron microscopy of 1 patient showed large mitochondria with incomplete fusion of the inner mitochondrial membrane.
Inheritance
The transmission pattern of MTDPS14 in the family reported by Spiegel et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sisters with MTDPS14, Spiegel et al. (2016) identified a homozygous missense mutation in the OPA1 gene (L534R; 605290.0023). The mutation, which was found by a combination of autozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. Western blot analysis of patient cells showed a significant reduction of protein expression compared to controls. Each parent was a carrier of the mutation; neither had visual or neurologic abnormalities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) | c4225163 | 28,838 | omim | https://www.omim.org/entry/616896 | 2019-09-22T15:47:31 | {"omim": ["616896"], "genereviews": ["NBK487393"]} |
Phagophobia
SpecialtyPsychology
Phagophobia is a psychogenic dysphagia, a fear of swallowing.[1] It is expressed in various swallowing complaints without any apparent physical reason detectable by physical inspection and laboratory analyses. An obsolete term for this condition is choking phobia,[2] but it was suggested that the latter term is confusing and it is necessary to distinguish the fear of swallowing (i.e., of the propulsion of bolus) from fear of choking.[1]
Phagophobia is classified as a specific phobia and according to DSM-IV classification it belongs to the category of "other phobias". Phagophobia may lead to (and be confused with) fear of eating, and the subsequent malnutrition and weight loss. In milder cases a phagophobe eats only soft and liquid foods.[3]
## See also[edit]
* Odynophagia
* Pseudodysphagia
* List of phobias
## Notes[edit]
1. ^ a b Shapiro J, Franko DL, Gagne A. Phagophobia: a form of psychogenic dysphagia. A new entity. Ann Otol Rhinol Laryngol 1997; 106: 286-290.
2. ^ McNally RJ. Choking phobia: a review of the literature. Compr Psychiatry 1994; 35: 83-89.
3. ^ Çiyiltepe, M; Türkbay, T (2006). "Phagophobia: A case report". The Turkish Journal of Pediatrics. 48 (1): 80–4.
## References[edit]
* Klinger, RL; Strang, JP (1987). "Psychiatric aspects of swallowing disorders". Psychosomatics. 28 (11): 572–6. doi:10.1016/S0033-3182(87)72455-4. PMID 3324155.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Phagophobia | c0919597 | 28,839 | wikipedia | https://en.wikipedia.org/wiki/Phagophobia | 2021-01-18T18:38:14 | {"wikidata": ["Q3738366"]} |
RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
## Epidemiology
So far, it has been described in four males.
## Genetic counseling
Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RHYNS syndrome | c1865794 | 28,840 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140976 | 2021-01-23T17:13:38 | {"gard": ["9681"], "mesh": ["C537612"], "omim": ["602152"], "umls": ["C1865794"], "synonyms": ["Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"]} |
Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin.
The signs and symptoms of hidradenitis suppurativa appear after puberty, usually in a person's teens or twenties. Nodules are most likely to form in the armpits and groin. They may also develop around the anus, on the buttocks, or under the breasts. In some cases, nodules appear in other areas, such as the nape of the neck, waist, and inner thighs.
The recurrent nodules and abscesses cause chronic pain and can lead to self-consciousness, social isolation, and depression. Rarely, nodules on the buttocks can develop into a type of skin cancer called squamous cell carcinoma.
## Frequency
Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop the condition.
## Causes
In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown that the condition actually begins with a blockage of hair follicles in areas of the body that also contain a high concentration of apocrine glands (such as the armpits and groin). The blocked hair follicles trap bacteria, leading to inflammation and rupture. It remains unclear what initially causes the follicles to become blocked and why the nodules tend to recur.
Genetic factors clearly play a role in causing hidradenitis suppurativa. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. The proteins produced from these genes are all components of a complex called gamma- (γ-) secretase. This complex cuts apart (cleaves) many different proteins, which is an important step in several chemical signaling pathways. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function. Studies suggest that mutations in the NCSTN, PSEN1, or PSENEN gene impair Notch signaling in hair follicles. Although little is known about the mechanism, abnormal Notch signaling appears to promote the development of nodules and lead to inflammation in the skin. Researchers are working to determine whether additional genes, particularly those that provide instructions for making other γ-secretase components, are also associated with hidradenitis suppurativa.
Researchers have studied many other possible risk factors for hidradenitis suppurativa. Obesity and smoking both appear to increase the risk of the disorder, and obesity is also associated with increased severity of signs and symptoms in affected individuals. Studies suggest that neither abnormal immune system function nor hormonal factors play a significant role in causing the disease. Other factors that were mistakenly thought to be associated with this condition include poor hygiene, the use of underarm deodorants and antiperspirants, and shaving or the use of depilatory products to remove hair.
### Learn more about the genes associated with Hidradenitis suppurativa
* NCSTN
* PSEN1
* PSENEN
## Inheritance Pattern
Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the condition, and hidradenitis suppurativa is sometimes misdiagnosed as other skin disorders.
In some families, including those with an NCSTN, PSEN1, or PSENEN gene mutation, hidradenitis suppurativa appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the altered gene from a parent who has the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hidradenitis suppurativa | c4551962 | 28,841 | medlineplus | https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa/ | 2021-01-27T08:24:49 | {"gard": ["6658"], "omim": ["142690", "613736", "613737"], "synonyms": []} |
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital pulmonary airway malformation type 3 | None | 28,842 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280847 | 2021-01-23T18:40:03 | {"icd-10": ["Q33.0"], "synonyms": ["CCAM type 3", "CPAM type 3", "Congenital cystic adenomatoid malformation of the lung type 3", "Congenital cystic adenomatous malformation of the lung type 3", "Congenital cystic disease of the lung type 3"]} |
For the jaw-winking syndrome, see Marcus Gunn phenomenon.
Relative afferent pupillary defect
Other namesMarcus Gunn pupil
The left optic nerve and the optic tracts. A Marcus Gunn pupil indicates an afferent defect, usually at the level of the retina or optic nerve. Moving a bright light from the unaffected eye to the affected eye would cause both eyes to dilate, because the ability to perceive the bright light is diminished.
SpecialtyOphthalmology
Relative afferent pupillary defect (RAPD) is a medical sign observed during the swinging-flashlight test[1] whereupon the patient's pupils dilate when a bright light is swung from the unaffected eye to the affected eye. The affected eye still senses the light and produces pupillary sphincter constriction to some degree, albeit reduced.
Depending on severity, different symptoms may appear during the swinging flash light test:
Mild RAPD will presents as a weak pupil constriction initially, after which dilation continues to happen.
When RAPD is moderate, pupil size will remain, after which it dilates
When RAPD is severe, the pupil will dilate quickly
## Contents
* 1 Cause
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Cause[edit]
The most common cause of Marcus Gunn pupil is a lesion of the optic nerve (between the retina and the optic chiasm) due to glaucoma, or severe retinal disease, or due to multiple sclerosis. It is named after Scottish ophthalmologist Robert Marcus Gunn.[2] A second common cause of Marcus Gunn pupil is a contralateral optic tract lesion, due to the different contributions of the intact nasal and temporal hemifields.[3]
## Diagnosis[edit]
The Marcus Gunn pupil is a relative afferent pupillary defect indicating a decreased pupillary response to light in the affected eye.[3]
In the swinging flashlight test, a light is alternately shone into the left and right eyes. A normal response would be equal constriction of both pupils, regardless of which eye the light is directed at. This indicates an intact direct and consensual pupillary light reflex. When the test is performed in an eye with an afferent pupillary defect, light directed in the affected eye will cause only mild constriction of both pupils (due to decreased response to light from the afferent defect), while light in the unaffected eye will cause a normal constriction of both pupils (due to an intact efferent path, and an intact consensual pupillary reflex). Thus, light shone in the affected eye will produce less pupillary constriction than light shone in the unaffected eye.
Anisocoria is absent. A Marcus Gunn pupil is seen, among other conditions, in optic neuritis. It is also common in retrobulbar optic neuritis due to multiple sclerosis but only for 3–4 weeks, until the visual acuity begins to improve in 1–2 weeks and may return to normal.[4]
A total CN II lesion, in which the affected eye perceives no light, is very similar to a Marcus Gunn pupil; to distinguish them, in a CNII total lesion shining the light in the affected eye produces zero dilation nor constriction.
## See also[edit]
* Argyll Robertson pupil
* Adie syndrome
* Cycloplegia
* Miosis
* Parinaud's syndrome
* Syphilis
## References[edit]
1. ^ "Pupillary Responses". Stanford University School of Medicine. Retrieved 2015-11-04.
2. ^ doctor/2687 at Who Named It?
3. ^ a b Pearce J (November 1996). "The Marcus Gunn pupil". J. Neurol. Neurosurg. Psychiatry. 61 (5): 520. doi:10.1136/jnnp.61.5.520. PMC 1074053. PMID 8937350.
4. ^ Mumenthaler Neurology 4ed, Thieme 2004, page 486 Demyelinating diseases
## External links[edit]
Classification
D
* DiseasesDB: 29599
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Relative afferent pupillary defect | c0549122 | 28,843 | wikipedia | https://en.wikipedia.org/wiki/Relative_afferent_pupillary_defect | 2021-01-18T19:09:30 | {"wikidata": ["Q6758201"]} |
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
## Epidemiology
Exact prevalence is unknown. About 200 cases have been reported to date. Cases have been reported primarily from the USA, Arab countries, Turkey, Czech Republic and Slovakia, the Indian subcontinent, and Brazil. Prevalence in other geographic areas is unknown. There is an equal male-to-female ratio.
## Clinical description
Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome, see this term) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome, see this term). The syndrome has a wide clinical spectrum. Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic limb shortening, as well as brachydactyly, clinodactyly, gingival hyperplasia, and genital hypoplasia are generally common to both forms. Vertebral segmentation defects are common but more severe in the recessive form: hemivertebrae and scoliosis are more common (75% of cases). Rib fusions appear to be present almost exclusively in the autosomal recessive form. Umbilical hernia and supernumerary teeth appear to be present exclusively in patients with the dominant form. Associated conditions include frequent ear infections, hearing loss, developmental and respiratory disorders, hypotonia, eating difficulties and esophageal reflux.
## Etiology
Autosomal recessive Robinow syndrome is caused by mutations in the ROR2 gene (9q22). Mutations in the WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.
## Diagnostic methods
Diagnosis is based on the clinical picture and the characteristic fetal face appearance of patients. Radiological examination is however necessary to confirm the presence of skeletal malformations.
## Differential diagnosis
The main differential diagnosis is RS with a different pattern of inheritance. Syndromes that commonly involve dysmorphic facial features similar to RS, particularly hypertelorism, along with genital hypoplasia such as Aarskog-Scott syndrome and Opitz G syndrome (see these terms) should also be considered. Chromosome abnormalities have occasionally been reported in patients with a Robinow-like phenotype. Similar costovertebral segmentation defects can be found in autosomal recessive spondylocostal dysostosis (ARSD) (see this term).
## Antenatal diagnosis
Prenatal diagnosis may be performed by fetal ultrasound from the 19th week of pregnancy but the severity of the syndrome is difficult to ascertain. Genetic testing may be performed to confirm the diagnosis in AR cases.
## Genetic counseling
Transmission is autosomal dominant or recessive. Genetic counseling is recommended. Parents of AD cases should be clinically evaluated to exclude a milder manifestation of the syndrome prior to genetic counseling.
## Management and treatment
Management of the skeletal deformities includes bracing or surgical correction. Growth hormone has been administered to increase the growth rate in children with the syndrome. In patients with wide palpebral fissures, the need for surgical intervention should be evaluated.
## Prognosis
Prognosis of Robinow syndrome is generally good but the severity of heart disorders may affect life expectancy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Robinow syndrome | c0265205 | 28,844 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97360 | 2021-01-23T18:46:11 | {"gard": ["312"], "mesh": ["C562492"], "omim": ["180700", "268310", "616331", "616894"], "umls": ["C0265205"], "icd-10": ["Q87.1"], "synonyms": ["Acral dysostosis with facial and genital abnormalities", "Fetal face syndrome", "Mesomelic dwarfism-small genitalia syndrome", "Robinow dwarfism", "Robinow-Silverman-Smith syndrome"]} |
## Clinical Features
Freire-Maia (1970) described a Brazilian family in which a brother and sister and 2 deceased brothers showed severe absence deformities of all limbs, hypotrichosis, abnormal teeth, hypoplastic nipples and areolae, and deformed auricles. The consistent features included hypoplastic nails, hypogonadism, thyroid enlargement, incomplete cleft lip, mental retardation, and ECG and EEG abnormalities. Both living sibs showed an excess of tyrosine and/or tryptophane in the urine. Parental consanguinity was denied, but the parents came from the same farm in one of the most inbred areas of Brazil.
Pavone et al. (1989) described a 19-year-old woman, born to first-cousin parents, who had severe upper limb anomalies, structural abnormalities of the ear, nasolacrimal duct obstruction, dysplastic fingernails, and sparse eyebrows and eyelashes.
Zankl et al. (2004) raised the possibility that odontotrichomelic syndrome might be present in the patient they reported with ectodermal dysplasia affecting hair, teeth, and nails and malformations of all 4 extremities, including absence of several rays in the hands and feet. This was a sporadic case and parental consanguinity was considered unlikely. The patient was evaluated at ages 2 years 9 months and 22 years. At that time scalp hair was sparse and thin. Eyebrows and eyelashes were present but sparse. His dentition contained only 10 teeth, which were hypoplastic and peg-shaped. He played different sports and reported sweating heavily. Stents had been implemented for nasolacrimal duct obstruction.
Inheritance
Zankl et al. (2004) stated that autosomal recessive inheritance was likely in the patients reported by both Freire-Maia (1970) and Pavone et al. (1989).
Molecular Genetics
### Exclusion Studies
Zankl et al. (2004) found no mutation in the p63 gene (603273) in the patient they reported. They thought that a mutation in the PVRL1 gene (600644), which is mutant in the Margarita Island type of ectodermal dysplasia/Zlotogora-Ogur syndrome (see 225060), a recessive disorder, was a possibility.
Limbs \- Tetramelia Neuro \- Mental retardation Neck \- Thyroid enlargement Inheritance \- Autosomal recessive Teeth \- Abnormal teeth Ears \- Deformed auricles Eyes \- Nasolacrimal duct obstruction Endocrine \- Hypogonadism Nails \- Hypoplastic nails Lab \- Abnormal ECG and EEG \- High urinary tyrosine and/or tryptophane Hair \- Hypotrichosis Mouth \- Incomplete cleft lip Skin \- Ectodermal dysplasia Thorax \- Hypoplastic nipples and areolae ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES | c0406723 | 28,845 | omim | https://www.omim.org/entry/273400 | 2019-09-22T16:21:47 | {"mesh": ["C535642"], "omim": ["273400"], "orphanet": ["2723"], "synonyms": ["Freire-Maia syndrome", "Alternative titles", "ODONTOTRICHOMELIC SYNDROME"]} |
Abortion in Barbados is legal when performed to save the life of the woman, to preserve her physical or mental health, in cases of foetal impairment, when the pregnancy was caused by rape or incest, and for economic or social reasons.[1][2] In 1983, Babardos passed the Medical Termination of Pregnancy Act, and abortion was made legal, other than upon request without a physician's oversight.[2] Prior to 12 weeks gestation, the woman must get approval from a physician to receive abortion care.[1] Between 12 and 20 weeks, two physicians must approve, and three are required after 20 weeks.[1] Before getting the medical procedure, the woman is required to receive counseling.[1] A medical practitioner must perform the abortion services, and after 12 weeks, they must do so in a government-approved hospital.[1]
## Medical Termination of Pregnancy Act[edit]
In 1983, the Barbados parliament passed the Medical Termination of Pregnancy Act, decriminalizing abortion and giving women access to legal and safe abortion care.[3] Billie Miller, the first woman to serve as minister of health in Barbados, campaigned for seven years to encourage her colleagues to decriminalize medical care for women.[3] Passage of this new law made Barbados the first English-speaking country in the Caribbean to decriminalize abortion.[3]
### Impact of legalizing abortion care[edit]
In the 25 years following this act, the maternal mortality rate decreased by 53%, turning the country into a leader on women's health.[4][3]
## References[edit]
1. ^ a b c d e Abortion policies : a global review. United Nations. Department of Economic and Social Development., United Nations. Department for Economic and Social Information and Policy Analysis. Population Division. New York: United Nations. 1992–1995. ISBN 9211513510. OCLC 26594264.CS1 maint: others (link)
2. ^ a b Menon, P.K. (July 1985). "The Medical Termination of Pregnancy Act 1983 (Barbados)". The International and Comparative Law Quarterly. 34 (3): 630–636. doi:10.1093/iclqaj/34.3.630. PMID 11658725.
3. ^ a b c d Miller, Billie (2017-09-28). "Why do politicians still force women through unwanted pregnancies? | Billie Miller". the Guardian. Retrieved 2018-01-27.
4. ^ "Barbados, Haiti reduce maternal mortality". BBC Monitoring Americas. May 7, 2014. ProQuest 1521320123.
* v
* t
* e
Abortion in North America
Sovereign states
* Antigua and Barbuda
* Bahamas
* Barbados
* Belize
* Canada
* Costa Rica
* Cuba
* Dominica
* Dominican Republic
* El Salvador
* Grenada
* Guatemala
* Haiti
* Honduras
* Jamaica
* Mexico
* Nicaragua
* Panama
* Saint Kitts and Nevis
* Saint Lucia
* Saint Vincent and the Grenadines
* Trinidad and Tobago
* United States
Dependencies and
other territories
* Anguilla
* Aruba
* Bermuda
* Bonaire
* British Virgin Islands
* Cayman Islands
* Curaçao
* Greenland
* Guadeloupe
* Martinique
* Montserrat
* Puerto Rico
* Saint Barthélemy
* Saint Martin
* Saint Pierre and Miquelon
* Saba
* Sint Eustatius
* Sint Maarten
* Turks and Caicos Islands
* United States Virgin Islands
This abortion-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Abortion in Barbados | None | 28,846 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Barbados | 2021-01-18T18:59:41 | {"wikidata": ["Q48816064"]} |
A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FLNA-related X-linked myxomatous valvular dysplasia | c0262436 | 28,847 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=555877 | 2021-01-23T18:20:45 | {"mesh": ["C535576"], "omim": ["314400"], "icd-10": ["Q22"], "synonyms": ["Dystrophie valvulaire associée à FLNA", "FLNA-related valvular dystrophy", "Filamin A-related X-linked myxomatous valvular dysplasia"]} |
Viral disease of sheep and goats caused by Pestivirus D
Pestivirus D
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Kitrinoviricota
Class: Flasuviricetes
Order: Amarillovirales
Family: Flaviviridae
Genus: Pestivirus
Species:
Pestivirus D
Synonyms.[1]
Border disease virus
Border disease (BD) is a viral disease of sheep and goats, primarily causing congenital diseases, but can also cause acute and persistent infections. It first appeared in the border regions of England and Wales in 1959, and has since spread world-wide. Lambs that are born with BD are commonly known as 'hairy shakers' due to the primary presentation of the disease. The disease was recognized before the virus, therefore the common name of the disease predates the understanding of the viral pathology. The virus can cause a significant reduction in the percentage of surviving lambs, thus it has a large economic impact on farmers.[2]
## Contents
* 1 Virus
* 2 Epidemiology
* 3 Vaccination
* 4 Clinical signs
* 4.1 Acute infection
* 4.2 Fetal infection
* 4.3 Persistent viraemia
* 5 Diagnosis
* 6 References
## Virus[edit]
Border disease is caused by Pestivirus D, also called simply "border disease virus" (BDV), in the family Flaviviridae. It is the same virus causing the disease. It was given a scientific name in 2018 by the International Committee on Taxonomy of Viruses,[3] after it had been identified. This virus is not host exclusive.[1] It is noncytopathogenic -it does not kill its host cells.[2]
It is a single stranded RNA virus that is labile in the environment.
## Epidemiology[edit]
Transmission is vertical or horizontal by nose to nose contact. The main source of infection is persistently infected animals. While border disease is caused by border disease virus, in areas of the world where close contact between sheep and goats and cattle occurs, similar clinical signs may be caused in sheep and goats by bovine viral diarrhea virus (BVDV).[4] It is therefore important to identify truly infected animals through direct detection of the virus by finding viral RNA in the blood or tissues, or by isolating the virus, growing it in a cell culture, and identifying it with immunostaining.[2]
## Vaccination[edit]
There is currently no vaccine available in the UK, but there are vaccines available in the USA and other areas of Europe. While there are vaccines, not all authorities consider them efficacious. BVDV vaccines for cattle have been used, but the viruses are distinct, and therefore will not work.[5]
Control is established through blood-testing sheep, and culling seropositive animals.[2]
## Clinical signs[edit]
Lambs with Border disease
While border disease primarily causes congenital issues, it can also manifest as acute infection or persistent infection.
### Acute infection[edit]
Most healthy animals will only experience subclinical disease or very mild infection. A slight fever and a mild leukopenia may be seen with a short-lived viremia, detectable between days 4-11 post infection, at which point the virus is neutralized by the animal's immune system.[6]
### Fetal infection[edit]
While the level of evident maternal infection may be minimal, the consequences for the fetus are serious before day 85 of gestation. After day 85, the lamb is most likely to be born normal with antibodies to the virus, given the state of the fetal immune system at this stage in gestation.
Fetal infection manifests as four syndromes:
1. Early embryonic mortality
2. Abortion and stillbirth
3. Congenital malformation
4. Birth of small weak lambs with immunosuppression
The animals that do survive to live birth will frequently show the 'hairy shaker' signs. The virus gathers in fetal lymphoid tissue, hair follicles, and the central nervous system. The 'hairy shakers' are born with hair (not wool) and the shaking comes from cerebellar hypoplasia.[5]
### Persistent viraemia[edit]
Feti that are infected between 60–85 days of gestation have a 50% chance of survival. The fetus is not immunocompetent at this stage and viral replication within fetal tissues is uncontrolled. Feti that survive infection at this stage of gestation will be tolerant of the virus and their immune system will not properly respond to it. As such there is no inflammatory response, but the characteristic 'hairy shaker' changes are still present. Some animals will continue to survive with viremia, while most will die by 6 months of age.[7]
## Diagnosis[edit]
Diagnosis is made through observation of clinical signs, presence of disease in the area, and confirmation made by serology: ELISA for virus antigen[8]
## References[edit]
1. ^ a b Smith, Donald B.; et al. (31 May 2017). "Renaming four species and creating seven new species in the genus Pestivirus" (zip). ICTV Proposal. Retrieved 19 August 2019. "...Border disease virus becomes Pestivirus D."
2. ^ a b c d "Manual of Diagnostic Tests and Vaccines for Terrestrial Animals". OIE. 2018.
3. ^ King, Andrew M. K.; et al. (12 May 2018). "Changes to taxonomy and the International Classification and Nomenclature ratified by the International Committee on Taxonomy of Viruses". Archives of Virology. 163 (9): 2601–2631. doi:10.1007/s00705-018-3847-1. PMID 29754305.
4. ^ Carlsson U (1991). "Border disease in sheep caused by transmission of virus from cattle persistently infected with bovine virus diarrhoea virus". Vet. Rec. 128 (7): 145–147. doi:10.1136/vr.128.7.145. PMID 1851350.
5. ^ a b Callan, Robert. "Border Disease (Hairy Shaker Disease)".
6. ^ Thabti F, Fronzaroli L, Dlissi E, Guibert JM, Hammai S, Pepin M, Russo P (2002). "Experimental model of border disease virus infection in lambs: comparative pathogenicity of pestiviruses isolated in France and Tunisia". Vet Res. 33 (1): 35–45. doi:10.1051/vetres:2001004. PMID 11873817.
7. ^ Nettleton PF, Gilray JA, Russo P, Dlissi E (1998). "Border disease of sheep and goats". Vet Res. 29 (3–4): 327–340. PMID 9689745.
8. ^ Radostits, Otto M.; Gay, Clive C.; Blood, Douglas C.; Hinchcliff, Kenneth W. (2000). Veterinary Medicine: A Textbook of the Diseases of Cattle, Sheep, Pigs, Goats and Horses (9th ed.). Elsevier Health Sciences. ISBN 9780702026041.
Taxon identifiers
Pestivirus D
* Wikidata: Q51930351
* NCBI: 2170083
Border disease virus
* Wikidata: Q18968316
* Wikispecies: Pestivirus D
* EoL: 541188
* IRMNG: 11459266
* NCBI: 358764
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Border disease | c0006008 | 28,848 | wikipedia | https://en.wikipedia.org/wiki/Border_disease | 2021-01-18T19:00:01 | {"mesh": ["D001882"], "wikidata": ["Q893408"]} |
Purpura of the extremities, epistaxis, ecchymoses on slight trauma and menorrhagia are features. Tourniquet test is positive but all other tests of clotting are normal. In the family reported by Fisher et al. (1954), purpura and ptosis occurred together with male-to-male transmission in at least 3 generations. Among Davis' 27 families, 9 had 2 or more generations affected. Women were more often affected and there was apparently no instance of male-to-male transmission.
Eyes \- Ptosis Inheritance \- Autosomal dominant GU \- Menorrhagia Lab \- Positive tourniquet test \- Clotting tests normal Nose \- Epistaxis Skin \- Purpura of extremities \- Ecchymoses on slight trauma ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PURPURA SIMPLEX | c0272309 | 28,849 | omim | https://www.omim.org/entry/179000 | 2019-09-22T16:35:21 | {"mesh": ["C536249"], "omim": ["179000"], "icd-10": ["D69.2"]} |
For other uses, see Kyphosis (disambiguation).
"Hunchback" redirects here. For other uses, see Hunchback (disambiguation).
Hyperkyphosis
Other namesRoundback
A preoperative image of a 22-year-old man with Scheuermann's disease, a type of structural kyphosis
SpecialtyOrthopedics
Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions.[1][2] Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis. It can result from degenerative disc disease; developmental abnormalities, most commonly Scheuermann's disease; osteoporosis with compression fractures of the vertebra; multiple myeloma; or trauma. A normal thoracic spine extends from the 1st thoracic to the 12th thoracic vertebra and should have a slight kyphotic angle, ranging from 20° to 45°. When the "roundness" of the upper spine increases past 45° it is called kyphosis or "hyperkyphosis". Scheuermann's kyphosis is the most classic form of hyperkyphosis and is the result of wedged vertebrae that develop during adolescence. The cause is not currently known and the condition appears to be multifactorial and is seen more frequently in males than females.[3]
In the sense of a deformity, it is the pathological curving of the spine, where parts of the spinal column lose some or all of their lordotic profile. This causes a bowing of the back, seen as a slouching posture.
While most cases of kyphosis are mild and only require routine monitoring, serious cases can be debilitating. High degrees of kyphosis can cause severe pain and discomfort, breathing and digestion difficulties, cardiovascular irregularities, neurological compromise and, in the more severe cases, significantly shortened life spans. These types of high-end curves typically do not respond well to conservative treatment and almost always warrant spinal fusion surgery, which can restore the body's natural degree of curvature. The term is from Greek κυφός kyphos, a hump.
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Diagnosis
* 2.1 Classification
* 2.2 Grading
* 3 Treatments
* 3.1 Brace
* 3.2 Physical therapy
* 3.3 Surgery
* 4 People
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Kyphosis (at far right) in comparison with other vertebral column disorders
### Complications[edit]
The risk of serious complications from spinal fusion surgery for kyphosis is estimated to be 5%, similar to the risks of surgery for scoliosis. Possible complications include inflammation of the soft tissue or deep inflammatory processes, breathing impairments, bleeding, and nerve injuries. According to the latest evidence, the actual rate of complications may be substantially higher. Even among those who do not suffer from serious complications, 5% of patients require reoperation within five years of the procedure, and in general it is not yet clear what one would expect from spine surgery during the long-term.[4][5] Given that the signs and symptoms of spinal deformity cannot be changed by surgical intervention, surgery remains essentially a cosmetic choice.[4][6] However, the cosmetic effects of surgery are not necessarily stable.[4]
## Diagnosis[edit]
### Classification[edit]
There are several kinds of kyphosis (ICD-10 codes are provided):
* Postural kyphosis (M40.0), the most common type, normally attributed to slouching, can occur in both the old[7] and the young. In the young, it can be called "slouching" and is reversible by correcting muscular imbalances. In the old, it may be a case of hyperkyphosis and called "dowager's hump". About one third of the most severe hyperkyphosis cases in older people have vertebral fractures.[8] Otherwise, the aging body does tend towards a loss of musculoskeletal integrity,[9] and hyperkyphosis can develop due to aging alone.[8][10]
* Scheuermann's kyphosis (M42.0) is significantly worse cosmetically and can cause varying degrees of pain, and can also affect different areas of the spine (the most common being the midthoracic area). Scheuermann's kyphosis is considered a form of juvenile osteochondrosis of the spine, and is more commonly called Scheuermann's disease. It is found mostly in teenagers and presents a significantly worse deformity than postural kyphosis. A patient suffering from Scheuermann's kyphosis cannot consciously correct posture.[11][12] The apex of the curve, located in the thoracic vertebrae, is quite rigid. The patient may feel pain at this apex, which can be aggravated by physical activity and by long periods of standing or sitting. This can have a significantly detrimental effect on their lives, as their level of activity is curbed by their condition; they may feel isolated or uneasy amongst peers if they are children, depending on the level of deformity. Whereas in postural kyphosis, the vertebrae and discs appear normal, in Scheuermann's kyphosis, they are irregular, often herniated, and wedge-shaped over at least three adjacent levels. Fatigue is a very common symptom, most likely because of the intense muscle work that has to be put into standing or sitting properly. The condition appears to run in families. Most patients who undergo surgery to correct their kyphosis have Scheuermann's disease.[citation needed]
* Congenital kyphosis (Q76.4) can result in infants whose spinal column has not developed correctly in the womb. Vertebrae may be malformed or fused together and can cause further progressive kyphosis as the child develops.[13] Surgical treatment may be necessary at a very early stage and can help maintain a normal curve in coordination with consistent follow-ups to monitor changes. However, the decision to carry out the procedure can be very difficult due to the potential risks to the child. A congenital kyphosis can also suddenly appear in teenage years, more commonly in children with cerebral palsy and other neurological disorders.
* Nutritional kyphosis can result from nutritional deficiencies, especially during childhood, such as vitamin D deficiency (producing rickets), which softens bones and results in curving of the spine and limbs under the child's body weight.
* Gibbus deformity is a form of structural kyphosis, often a sequela to tuberculosis.
* Post-traumatic kyphosis (M84.0) can arise from untreated or ineffectively treated vertebral fractures.
### Grading[edit]
Sagittal balance measurement.[14]
Kyphosis can be graded in severity by the Cobb angle. Also, sagittal balance can be measured. The sagittal balance is the horizontal distance between the center of C7 and the superior-posterior border of the endplate of S1 on a lateral radiograph.[14]
## Treatments[edit]
A diagnosis of kyphosis is generally made through observation and measurement. Idiopathic causes, such as vertebral wedging or other abnormalities, can be confirmed through X-ray. Osteoporosis, a potential cause of kyphosis, can be confirmed with a bone density scan. Postural thoracic kyphosis can often be treated with posture reeducation and focused strengthening exercises. Idiopathic thoracic kyphosis due to vertebral wedging, fractures, or vertebral abnormalities is more difficult to manage, since assuming a correct posture may not be possible with structural changes in the vertebrae. Children who have not completed their growth may show long-lasting improvements with bracing. Exercises may be prescribed to alleviate discomfort associated with overstretched back muscles. A variety of gravity-assisted positions or gentle traction can minimize pain associated with nerve root impingement. Surgery may be recommended for severe idiopathic kyphosis.[citation needed]
### Brace[edit]
Modern brace for the treatment of a thoracic kyphosis. The brace is constructed using a CAD/CAM device.[15]
Body braces showed benefit in a randomised controlled trial.[16]
The Milwaukee brace is one particular body brace that is often used to treat kyphosis in the US. Modern CAD/CAM braces are used in Europe to treat different types of kyphosis. These are much easier to wear and have better in-brace corrections than reported for the Milwaukee brace. Since there are different curve patterns (thoracic, thoracolumbar, and lumbar), different types of brace are in use, with different advantages and disadvantages.[15]
Modern brace for the treatment of a lumbar or thoracolumbar kyphosis. The brace is constructed using a CAD/CAM device. Restoration of the lumbar lordosis is the main aim.[15]
### Physical therapy[edit]
In Germany, a standard treatment for both Scheuermann's disease and lumbar kyphosis is the Schroth method, a system of physical therapy for scoliosis and related spinal deformities.[17] It involves lying supine, placing a pillow under the scapular region and posteriorly stretching the cervical spine. In China, many people use spinal care mattresses to correct kyphosis while sleeping.[citation needed]
### Surgery[edit]
Surgical treatment can be used in severe cases. In patients with progressive kyphotic deformity due to vertebral collapse, a procedure called a kyphoplasty may arrest the deformity and relieve the pain. Kyphoplasty is a minimally invasive procedure,[18] requiring only a small opening in the skin. The main goal is to return the damaged vertebra as close as possible to its original height.[19]
## People[edit]
* Şehzade Cihangir
* Mahmud I
* Godfrey IV, Duke of Lower Lorraine
* Benjamin Lay
* Georg Christoph Lichtenberg
* Margaret of Bavaria (1442–1479)
* Pepin the Hunchback
* Charles Proteus Steinmetz
## See also[edit]
* Ehlers–Danlos syndrome
* The Hunchback of Notre-Dame
* The Hunchback of Notre Dame (1939 film)
* The Hunchback of Notre Dame (1996 film)
* Loeys–Dietz syndrome
* Pott disease
* Igor
## References[edit]
1. ^ Fon GT, Pitt MJ, Thies AC (May 1980). "Thoracic kyphosis: range in normal subjects". AJR. American Journal of Roentgenology. 134 (5): 979–83. doi:10.2214/ajr.134.5.979. PMID 6768276.
2. ^ Voutsinas SA, MacEwen GD (September 1986). "Sagittal profiles of the spine". Clinical Orthopaedics and Related Research (210): 235–42. PMID 3757369.
3. ^ "What is Kyphosis?". Your Body Posture. 2018-02-14. Retrieved 2018-02-14.
4. ^ a b c Hawes M (2006). "Impact of spine surgery on signs and symptoms of spinal deformity". Pediatric Rehabilitation. 9 (4): 318–39. doi:10.1080/13638490500402264. PMID 17111548.
5. ^ Weiss HR, Goodall D (August 2008). "Rate of complications in scoliosis surgery – a systematic review of the Pub Med literature". Scoliosis. 3: 9. doi:10.1186/1748-7161-3-9. PMC 2525632. PMID 18681956.
6. ^ Hawes MC, O'Brien JP (2008). "A century of spine surgery: what can patients expect?". Disability and Rehabilitation. 30 (10): 808–17. doi:10.1080/09638280801889972. PMID 18432439.
7. ^ Milne JS, Lauder IJ (July 1974). "Age effects in kyphosis and lordosis in adults". Annals of Human Biology. 1 (3): 327–37. doi:10.1080/03014467400000351. PMID 4419577.
8. ^ a b Kado DM, Prenovost K, Crandall C (September 2007). "Narrative review: hyperkyphosis in older persons". Annals of Internal Medicine. 147 (5): 330–8. doi:10.7326/0003-4819-147-5-200709040-00008. PMID 17785488.
9. ^ Keller TS, Harrison DE, Colloca CJ, Harrison DD, Janik TJ (March 2003). "Prediction of osteoporotic spinal deformity". Spine. 28 (5): 455–62. doi:10.1097/00007632-200303010-00009. PMID 12616157.
10. ^ Chaitow L. "Posture And Correct Body Use". Archived from the original on 8 February 2005.
11. ^ "Scoliosis and Spinal Curvatures". Medtronic.
12. ^ Nowak JE (2019-12-05). Kishner S (ed.). "Scheuermann Disease". Medscape.
13. ^ McMaster MJ, Singh H (October 1999). "Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients". The Journal of Bone and Joint Surgery. American Volume. 81 (10): 1367–83. doi:10.2106/00004623-199910000-00002. PMID 10535587.
14. ^ a b Tebet, Marcos Antonio (2014). "Conceitos atuais sobre equilíbrio sagital e classificação da espondilólise e espondilolistese". Revista Brasileira de Ortopedia. 49 (1): 3–12. doi:10.1016/j.rbo.2013.04.011. ISSN 0102-3616. PMC 4511775. PMID 26229765.
15. ^ a b c Weiss, Hans-Rudolf; Turnbull, Deborah (2010). "Kyphosis - Physical and technical rehabilitation of patients with Scheuermann's disease and kyphosis". International Encyclopedia of Rehabilitation.
16. ^ Pfeifer M, Begerow B, Minne HW (March 2004). "Effects of a new spinal orthosis on posture, trunk strength, and quality of life in women with postmenopausal osteoporosis: a randomized trial". American Journal of Physical Medicine & Rehabilitation. 83 (3): 177–86. doi:10.1097/01.PHM.0000113403.16617.93. PMID 15043351.
17. ^ Lehnert-Schroth, Christa (2007). Three-Dimensional Treatment for Scoliosis: A Physiotherapeutic Method for Deformities of the Spine. Palo Alto, CA: The Martindale Press. pp. 185–187 and passim.
18. ^ "Kyphoplasty: Minimally invasive procedure diagrams". Brain And Spine Institute of California. Archived from the original on 2012-05-30.
19. ^ "Kyphoplasty". Spine University. Archived from the original on 2011-07-04.
## External links[edit]
* Kypho, definition and other related medical terms
Classification
D
* ICD-10: M40.0-M40.2, M42.0, E64.3,Q76.4, M84.0, M96.2, M96.3
* ICD-9-CM: 732.0, 737.0, 737.1, 756.19
* MeSH: D007738
* DiseasesDB: 21885
* SNOMED CT: 414564002
External resources
* MedlinePlus: 001240
* Patient UK: Kyphosis
Wikimedia Commons has media related to Kyphosis.
* v
* t
* e
Spinal disease
Deforming
Spinal curvature
* Kyphosis
* Lordosis
* Scoliosis
Other
* Scheuermann's disease
* Torticollis
Spondylopathy
inflammatory
* Spondylitis
* Ankylosing spondylitis
* Sacroiliitis
* Discitis
* Spondylodiscitis
* Pott disease
non inflammatory
* Spondylosis
* Spondylolysis
* Spondylolisthesis
* Retrolisthesis
* Spinal stenosis
* Facet syndrome
Back pain
* Neck pain
* Upper back pain
* Low back pain
* Coccydynia
* Sciatica
* Radiculopathy
Intervertebral disc disorder
* Schmorl's nodes
* Degenerative disc disease
* Spinal disc herniation
* Facet joint arthrosis
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Kyphosis | c0022821 | 28,850 | wikipedia | https://en.wikipedia.org/wiki/Kyphosis | 2021-01-18T19:05:45 | {"mesh": ["D007738"], "umls": ["C0022821", "C1845112"], "icd-9": ["737.1", "756.19", "737.0", "732.0"], "icd-10": ["M42.0", "M96.3", "M84.0", "E64.3", "M96.2", "Q76.4", "M40.0", "M40.2"], "wikidata": ["Q478389"]} |
Spinal fracture
Other namesVertebral fracture, broken back
Lateral spine X-ray showing osteoporotic wedge fractures of L1/2
CASH Orthosis.
A spinal fracture, also called a vertebral fracture or a broken back, is a fracture affecting the vertebrae of the spinal column. Most types of spinal fracture confer a significant risk of spinal cord injury. After the immediate trauma, there is a risk of spinal cord injury (or worsening of an already injured spine) if the fracture is unstable, that is, likely to change alignment without internal or external fixation.[1]
## Contents
* 1 Types
* 2 Cervical fracture
* 3 Thoracolumbar fracture
* 3.1 Thoracolumbar injury classification and severity score
* 3.2 AOSpine Thoracolumbar Injury Classification System
* 3.2.1 Fracture morphology
* 3.2.2 Neurological status
* 3.2.3 Modifiers
* 4 References
* 5 External links
## Types[edit]
* Cervical fracture
* Fracture of C1, including Jefferson fracture
* Fracture of C2, including Hangman's fracture
* Flexion teardrop fracture – a fracture of the anteroinferior aspect of a cervical vertebra
* Clay-shoveler fracture – fracture through the spinous process of a vertebra occurring at any of the lower cervical or upper thoracic vertebrae
* Burst fracture – in which a vertebra breaks from a high-energy axial load
* Compression fracture – a collapse of a vertebra, often resulting in the form of a wedge-shape due to larger compression anteriorly
* Chance fracture – compression injury to the anterior portion of a vertebral body with concomitant distraction injury to posterior elements
* Holdsworth fracture – an unstable fracture dislocation of the thoracolumbar junction of the spine
* Distraction is where there is a pulling apart of the vertebrae.[2] Distraction injuries generally cause breaks in osseous and ligamentous supporting structures, and are therefore generally unstable.[3] A distraction injury on the posterior side of a vertebra can lead to a compression fracture on its anterior side.[3]
## Cervical fracture[edit]
Main article: Cervical fracture
A medical history and physical examination can be sufficient in clearing the cervical spine. Notable clinical prediction rules to determine which patients need medical imaging are Canadian C-spine rule and the National Emergency X-Radiography Utilization Study (NEXUS).[4]
The AO Foundation has developed a descriptive system for cervical fractures, the AOSpine subaxial cervical spine fracture classification system.[5]
The indication to surgically stabilize a cervical fracture can be estimated from the Subaxial Injury Classification (SLIC).[6]
## Thoracolumbar fracture[edit]
Vertebral fractures of the thoracic vertebrae, lumbar vertebrae or sacrum are usually associated with major trauma and can cause spinal cord injury that results in a neurological deficit.[7]
### Thoracolumbar injury classification and severity score[edit]
The thoracolumbar injury classification and severity score (TLICS) is a scoring system to determine the need to surgically treat a spinal fracture of thoracic or lumbar vertebrae. The score is the sum of three values, each being the score of the most fitting alternative in three categories:[8]
Injury type
* Compression fracture - 1 point
* Burst fracture - 2 points
* Translational rotational injury - 3 points
* Distraction injury - 4 points
Posterior ligamentous complex
* Intact - 0 points
* Suspected injury or indeterminate - 2 points
* Injured - 3 points
Neurology
* Intact - 0 points
* Spinal nerve root injury - 2 points
* Incomplete injury of cord/conus medullaris \- 3 points
* Complete injury of cord/conus medullaris (complete) - 2 points
* Cauda equina syndrome \- 3 points
A TLICS score of less than 4 indicates non-operative treatment, a score of 4 indicates that the injury may be treated operatively or non-operatively, while a score of more than 4 means that the injury is usually considered for operative management.[8]
### AOSpine Thoracolumbar Injury Classification System[edit]
AOSpine Thoracolumbar Injury Classification System (ATLICS)[9] is the most recent classification scheme for thoracolumbar injuries.[10] ATLICS is broadly based on the TLICS system and has sufficient reliability irrespective of the experience of the observer.[10] ATLICS is primarily focused on fracture morphology, and has two additional sections addressing the neurological grading and clinical modifiers:[9]
#### Fracture morphology[edit]
* Type A: Compression injuries (sub-types A0-A4)
* Type B: Distraction injuries (sub-types B1-B3)
* Type C: Translation injuries
#### Neurological status[edit]
* N0: neurologically intact
* N1: transient deficit
* N2: radiculopathy
* N3: "incomplete spinal cord injury or cauda equina injury"[9]
* N4: "complete spinal cord injury"[9]
* NX: unknown neurological status
#### Modifiers[edit]
* M1: unknown tension band injury status
* M2: comorbidities
## References[edit]
1. ^ "Fracture". MDguidelines by the American Medical Association. Retrieved 2017-10-26.
2. ^ Augustine, J.J. (21 November 2011). "Spinal trauma". In Campbell, J.R. (ed.). International Trauma Life Support for Emergency Care Providers. Pearson Education. ISBN 978-0-13-300408-3.CS1 maint: ref=harv (link)
3. ^ a b Clark West, Stefan Roosendaal, Joost Bot and Frank Smithuis. "Spine injury - TLICS Classification". Radiology Assistant. Retrieved 2017-10-26.CS1 maint: multiple names: authors list (link)
4. ^ Saragiotto, Bruno T; Maher, Christopher G; Lin, Chung-Wei Christine; Verhagen, Arianne P; Goergen, Stacy; Michaleff, Zoe A (2018). "Canadian C-spine rule and the National Emergency X-Radiography Utilization Study (NEXUS) for detecting clinically important cervical spine injury following blunt trauma". Cochrane Database of Systematic Reviews. doi:10.1002/14651858.CD012989. hdl:10453/128267. ISSN 1465-1858.
5. ^ "Classification". AO Foundation. Retrieved 2019-05-08.
6. ^ Page 94 and Page 126 in: Douglas L. Brockmeyer, Andrew T. Dailey (2016). Adult and Pediatric Spine Trauma, An Issue of Neurosurgery Clinics of North America. 28. Elsevier Health Sciences. ISBN 9780323482844.
7. ^ Mirghasemi, Alireza; Mohamadi, Amin; Ara, Ali Majles; Gabaran, Narges Rahimi; Sadat, Mir Mostafa (November 2009). "Completely displaced S-1/S-2 growth plate fracture in an adolescent: case report and review of literature". Journal of Orthopaedic Trauma. 23 (10): 734–738. doi:10.1097/BOT.0b013e3181a23d8b. ISSN 1531-2291. PMID 19858983.
8. ^ a b Buck Christensen. "Thoracolumbar Injury Classification and Severity (TLICS) Scale". Medscape. Retrieved 2017-10-26. Updated: Dec 09, 2014
9. ^ a b c d Vaccaro, Alexander R.; Oner, Cumhur; Kepler, Christopher K.; Dvorak, Marcel; Schnake, Klaus; Bellabarba, Carlo; Reinhold, Max; Aarabi, Bizhan; Kandziora, Frank (November 2013). "AOSpine Thoracolumbar Spine Injury Classification System". Spine. 38 (23): 2028–2037. doi:10.1097/brs.0b013e3182a8a381. ISSN 0362-2436. PMID 23970107.
10. ^ a b Abedi, Aidin; Mokkink, Lidwine B; Zadegan, Shayan A; Paholpak, Permsak; Tamai, Koji; Wang, Jeffrey C; Buser, Zorica (October 2018). "Reliability and Validity of the AOSpine Thoracolumbar Injury Classification System: A Systematic Review." Global Spine Journal. 2192568218806847. doi:10.1177/2192568218806847.
## External links[edit]
Classification
D
* ICD-10: S32.0-S32.1
* ICD-9-CM: 805
* MeSH: D016103
External resources
* eMedicine: article/248236
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Spinal fracture | c0080179 | 28,851 | wikipedia | https://en.wikipedia.org/wiki/Spinal_fracture | 2021-01-18T19:02:26 | {"mesh": ["D016103"], "icd-9": ["805"], "icd-10": ["T08", "S32.0", "S32.1"], "wikidata": ["Q7577460"]} |
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
## Epidemiology
Fish eye disease is very rare; about 30 cases have been reported to date. Fish eye disease seems to be less common than familial LCAT deficiency (see this term).
## Clinical description
Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency (familial LCAT deficiency, see this term) and form a mosaic pattern of small dot-like grey-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. Hepatomegaly, splenomegaly and lymphadenopathy are generally not present.
## Etiology
18 different mutations in the LCAT gene (16q22.1), encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, have been identified in FED cases. In patients with this disorder, alpha-LCAT activity (i.e., the activity of LCAT in esterifying cholesterol within HDL) is abolished, but beta-LCAT activity (i.e., the activity of LCAT in esterifying cholesterol within other lipoproteins) is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea.
## Diagnostic methods
Initial diagnosis is suspected on the basis of corneal clouding. Definitive diagnosis requires molecular genetic testing of the LCAT gene and functional analysis of the gene product.
## Differential diagnosis
Differential diagnosis includes Schnyder corneal dystrophy as well as familial LCAT deficiency and Tangier disease (see these terms).
## Antenatal diagnosis
Prenatal diagnosis is possible.
## Genetic counseling
FED follows an autosomal recessive pattern of inheritance. Genetic counseling should be offered to affected families.
## Management and treatment
Treatment is symptomatic. Severe visual impairment may require corneal transplantation.
## Prognosis
Morbidity is related to progressive corneal opacification, which may lead to visual impairment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Fish-eye disease | c0342895 | 28,852 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79292 | 2021-01-23T18:32:22 | {"gard": ["6450"], "mesh": ["D007863", "C538467"], "omim": ["136120"], "umls": ["C0342895"], "icd-10": ["E78.6"], "synonyms": ["FED", "Partial LCAT deficiency"]} |
Blocq's syndrome
Trunk sway, path deviation, arm swing
Anatomical terminology
[edit on Wikidata]
Blocq's disease was first considered by Paul Blocq (1860–1896),[1] who described this phenomenon as the loss of memory of specialized movements causing the inability to maintain an upright posture, despite normal function of the legs in the bed. The patient is able to stand up, but as soon as the feet are on the ground, the patient cannot hold himself upright nor walk; however when lying down, the subject conserved the integrity of muscular force and the precision of movements of the lower limbs. The motivation of this study came when a fellow student Georges Marinesco (1864) and Paul published a case of parkinsonian tremor (1893) due to a tumor located in the substantia nigra.[1]
In the third paper published by Paul Blocq, he was trying to determine the neurophysiology behind this disease by relating the cerebral cortex (the decision making) and the spinal cord (the decision executer). His hypothesis was that there would exist an inhibitory influence which exerted and influenced the cortical or spinal centers for standing and walking.
## Contents
* 1 Primary motor cortex overview
* 2 Descending motor pathways
* 3 Signs and symptoms
* 4 Pathology
* 4.1 Anatomical
* 4.2 Pathophysiology
* 5 Brain affected areas
* 5.1 Basal ganglia
* 5.2 Striatum
* 5.3 Supplementary motor area
* 6 Diagnosis
* 7 Treatment
* 8 See also
* 9 References
## Primary motor cortex overview[edit]
Motor cortex region involved in the learning retention
One of the issues that neurobiologists are more concerned is related with the ability of learning and retaining motor skills controlled by the primary motor cortex. Through literature, they have found that primary motor cortex neurons may control skill acquisition and retention. One of the abilities of the motor cortex that allow this control is plasticity which occurs due to the everyday experience of movement repetition. A common substrate of plasticity are the internal system of connections that are located around these regions, creating motor maps.[2]
## Descending motor pathways[edit]
Vestibulospinal tracts: The importance is involved in the control of postural adjustments and head movements as well as balance maintenance. Any movement of the body is detected by the vestibular sensory neurons, and the sensory motor replies by counteracting the movements through the vestibulospinal tracts and exerting action on a group of muscles throughout the body. The lateral vestibulospinal tract excites antigravity muscles in order to exert control over postural changes necessary to compensate for tilts and movements of the body. The medial vestibulospinal tract innervates neck muscles in order to stabilize head position as one moves around the world.[3]
Reticulospinal tracts: It serves as a connector for the corticospinal system by which cortical neurons can control motor function. These tracts regulate the sensitivity of flexor responses to ensure that only noxious stimuli elicit the responses. The reticular formation also contains circuitry for many complex actions, such as orienting, stretching, and maintaining a complex posture. Commands that initiate locomotor circuits in the spinal cord are also transmitted through the medullary reticulospinal tract. Thus, the reticulospinal tracts are involved in many aspects of motor control, including the integration of sensory input to guide motor output.[4]
## Signs and symptoms[edit]
* Weakness in the lower limb [5]
* Difficulty Walking
* Sensory Disturbance
* Arms extended controlling balance.
* Propulsive: the posture is hunched over and rigid with the head and neck bent forward.
* Buckling of the knees with a vigorous up and down shaking of the body.[6]
* Spastic: the legs are stiff and the feet drag.
* Waddling: the gait is duck-like.
* Flannel Legs Syndrome (FLS): the sensation of walking on cotton or feathers
* Motor
* Bradykinesia (slowness of movement) starting from planning to initiation and execution of the movement.
## Pathology[edit]
### Anatomical[edit]
Balance between various interacting neuronal systems such as locomotion which includes initiation and maintenance of rhythmic stepping, balance, and ability to adapt to the environment.[7] Deficit appears to be localized in the putamen and globus pallidus resulting in a reduction in the muscle force produced at the initiation of the movement. Initiation of a movement starts by inducing stepping through reticulospinal and vestibulospinal projection in ventromedial descending brainstem pathways. The bulbospinal pathways are modulated with the support of and swing of the gait cycle, and this modulation is accomplished through the connections with the cerebral vermis. Diseases that affect the vestibular system such as gait disorders often impair the initiation of a movement. Most of the patients with blocq's syndrome suffer from hypokinetic gait disorder defined as slowness of movement due to the dysfunction of the circuitry controlled by the basal ganglia, frontal lobe and brainstem. Patients are limited to a wide-based or variable stance and truncal imbalance.[7]
Another region involved in the psychogenic tremor is the temporoparital junction depicted by a hypo-activation in patients that were functional imaging recorded during an episode of functional tremor or when the same patients were voluntarily mimicking their tremor. This region is thought to be a comparator region, comparing actual with predicted sensory feedback. This experiment suggests that the hypoactivity might represent a failure to match the actual and predicted sensory feedback, resulting in an inhibition of the movement.[8] In addition, another functional imaging study in psychogenic movement disorder noted abnormally strong amygdala–supplementary motor area connectivity when patients were presented with emotionally stimuli and abnormally weak supplementary motor area–prefrontal cortex connectivity in a reaction time task.[9] Scientists thus speculated that the hypoactivity may be due to the lack of an appropriate prediction outcome signal of the conversion tremor. Thus, without the predicted outcome signal, there would be no comparison between the predicted versus the actual sensory outcome of the conversion movement and hence the temporoparietal junction hypoactivity and the sensation that the movement is not under one’s control enabling the initiation of it.
### Pathophysiology[edit]
Psychogenic disorder has been linked with basal ganglia dysfunction and dopamine deficiency observed by a decrease in neuronal density in substantia nigra in elderly patients.[10] On an in-vivo study, the absence of dopamine in the cultures perturbed the dynamics of the subthalamic nucleus (STN) and the GABAergic neurons of the globus pallidus(GP). It is believed that the activation of the indirect pathway (striatum-GP-STN-output nuclei) increases the firing rate of GP-STN neurons resulting in an excessive inhibition of basal ganglia targets.[11] In psychogenic disorder, the activity in the indirect pathway (inhibits movement, thoughts) predominates over that on the direct pathway (increases movement, thoughts, feelings), giving rise to an increase in the globus pallidus interior (GPi) inhibitory output, which results in decrease motor activity. Specifically, it begins on the cerebral cortex sending projections to neurons in striatum. These neurons will inhibit the external segment of the Globus Pallidus (GPe), which normally inhibits the subthalamic nucleus (STN). However, the GPe is inhibited and no longer inhibit the STN and the STN will excite the GPi which finally inhibits the thalamus and prevents from exciting to the cerebral cortex and command the spinal cord for initiation of a movement.[11] In addition, scientists have found that the degree of slowness of movement is characterized by the decrease of F-fluorodpa uptake in the striatum and nucleus accumbens complex.
## Brain affected areas[edit]
### Basal ganglia[edit]
Basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. The basal ganglia are associated with a variety of functions, including voluntary motor control, procedural learning relating to routine behaviors. Nowadays, the basal ganglia is implicated primarily in action selection, meaning execution of a task at a given time. The main components of the basal ganglia are the striatum, the globus pallidus, the substantia nigra, and the subthalamic nucleus. The largest component, the striatum, receives input from many brain areas but sends output only to other components of the basal ganglia. The pallidum receives input from the striatum, and sends inhibitory output to a number of motor-related areas. The substantia nigra is the source of the striatal input of the neurotransmitter dopamine, which plays an important role in basal ganglia function. The subthalamic nucleus receives input mainly from the striatum and cerebral cortex, and projects to the globus pallidus. The basal ganglia have a limbic sector that involve the ventral tegmental area (VTA), its dysfunction has been related in some diseases such as Parkinson's disease and movement disorders.
### Striatum[edit]
Striatum is a subcortical part of the forebrain. It is the major input station of the basal ganglia system. The striatum, in turn, gets input from the cerebral cortex.
Dorsal Striatum
The putamen and caudate nucleus together form the dorsal striatum which contributes directly to decision-making, especially to action selection and initiation. It works under dopamine intake and sends its signal to the basal ganglia.
The putamen, together with the globus pallidus, makes up the lenticular nucleus. The important aspect of this interaction is that the globus pallidus sends the inhibitory output from the basal ganglia to the thalamus and sends a few projections to parts of the midbrain, which have been assumed to affect posture control.
Excitation of the globus pallidus interior (GPi) by the subthalamus facilitates movement suppression. When non-motor cerebral cortex excites the striate body, the caudate and putamen specifically inhibit neurons in the globus pallidus and subthalamus. This specific disinhibition enables movement initiation, by releasing excitatory thalamic neurons.
Ventral striatum
Functionally strongly associated with emotional and motivational aspects of behavior. Strongly innervated by dopaminergic fibers from the ventral tegmental area (VTA).
### Supplementary motor area[edit]
The projections of the basolateral nucleus to the dorsal or ventral striatum have been suggested to play a role in avoidance learning. The amygdala has also been implicated in conditioned approach behaviors. Scientists demonstrated surprising limbic-motor interactions in patients with motor conversion disorder that may underlie the influence of affect or arousal on motor function. The amygdala projects to the nucleus accumbens core and dorsal striatum, which have projections via the pallidum and thalamus to the supplementary motor area. The supplementary motor area is a major source of input to the corticospinal tract and is reciprocally connected to the primary motor cortex and basal ganglia. The supplementary motor complex is implicated in self-initiated action.[9] It is believed to be one source of a slowly increasing negative potential that precedes movement onset. The supplementary motor area has also been implicated in non-conscious motor inhibition. In a study on healthy individuals, masked stimuli that are briefly presented and not consciously observed can act as a prime to initially facilitate a response but the response is then inhibited. In the lesion patients, the responses were normally facilitated but not subsequently inhibited suggesting a potential role of the supplementary motor area in non-conscious motor response inhibition. Thus, they speculated that effect of arousal on amygdala activity may influence motor symptoms either through a general effect on initiation of the motor conversion symptom or possibly through a failure of inhibition of the motor conversion symptom.[9]
## Diagnosis[edit]
The doctor will review the person's medical history and perform a complete physical and neurological examination that will include an evaluation of the gait. The doctor may ask the patient to walk in a corridor or climb stairs to observe specific features including:[6]
1. Stance, posture, and base (wide or narrow).
2. Gait initiation (including start hesitation or freezing).
3. Walking speed, stride length, step height, foot clearance.
4. Continuity, symmetry, trunk sway, path deviation, arm swing.
5. Involuntary movements.
6. Ability to turn.
7. Ability to rise from a chair (without using the arms).
8. Chair Testing: Each patient was asked to walk 20–30 feet forward and backward toward the examiner. Patients were then asked to sit in a swivel chair with wheels and to propel the chair forward and backward.[12]
## Treatment[edit]
* First it has to be acknowledged that the patient has a psychogenic disorder and a biological explanation.[13]
* Psychotherapy.
* Cognitive behavioral therapy.
* Physical therapies.
* Exercise therapies.
* Leg braces and in-shoe splints can help maintain proper foot alignment for standing and walking.
* For poor balance is recommended a cane or a walker.
* Bowling shoes with upturned toes to reduce stumbling.
## See also[edit]
* Parkinson disease
## References[edit]
1. ^ a b Okun, M. S. and P. J. Koehler (2007). "Paul Blocq and (psychogenic) astasia abasia." Movement Disorders 22(10): 1373-1378.
2. ^ Sanes, J. N. (2000). Skill learning: Motor cortex rules for learning and memory. Current Biology, 10(13), R495-R497. doi:10.1016/s0960-9822(00)00557-1.
3. ^ Voron, Stephen. "The Vestibular System". University of Utah School of Medicine. Retrieved 1 November 2011
4. ^ FITGERALD, M J Turlough (2012). Clinical Neuroanatomy and Neuroscience. Philadelphia: Saunders Elsevier. pp. 192. ISBN 978-0-7020-3738-2.
5. ^ Stone, J., Zeman, A., & Sharpe, M. (2002). Functional weakness and sensory disturbance. [Review]. Journal of Neurology, Neurosurgery, and Psychiatry, 73(3), 241-245. doi:10.1136/jnnp.73.3.241.
6. ^ a b Lempert, T., Brandt, T., Dieterich, M., & Huppert, D. (1991). How to identify psychogenic disorders of stance and gait. Journal of Neurology, 238(3), 140-146. doi
7. ^ a b Snijders, A. H., van de Warrenburg, B. P., Giladi, N., & Bloem, B. R. (2007). Neurological gait disorders in elderly people: clinical approach and classification. The Lancet Neurology, 6(1), 63-74. doi:10.1016/s1474-4422(06)70678-0
8. ^ Mark J Edwards, Kailash P Bhatia, Functional (psychogenic) movement disorders: merging mind and brain, The Lancet Neurology, Volume 11, Issue 3, March 2012, Pages 250-260
9. ^ a b c Voon, V., et al. (2010). "Emotional stimuli and motor conversion disorder." Brain 133(5): 1526-1536
10. ^ Jankovic, J. (2008). Parkinson’s disease: clinical features and diagnosis. Journal of Neurology, Neurosurgery & Psychiatry, 79(4), 368-376. doi:10.1136/jnnp.2007.131045
11. ^ a b P.J Magill, J.P Bolam, M.D Bevan, Dopamine regulates the impact of the cerebral cortex on the subthalamic nucleus–globus pallidus network, Neuroscience, Volume 106, Issue 2, 6 September 2001, Pages 313-330
12. ^ Neurologist. 2007 Mar;13(2):87-91.
13. ^ Lang, Amitabh Gupta and Anthony E. (2009). Psychogenic movement disorders. Current Opinion in Neurology and Neurosurgery, 22, 430-436
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Blocq's disease | c0004090 | 28,853 | wikipedia | https://en.wikipedia.org/wiki/Blocq%27s_disease | 2021-01-18T19:02:45 | {"mesh": ["D003291"], "umls": ["C0004090"], "icd-10": ["F44.4"], "wikidata": ["Q4927306"]} |
"Glutaric aciduria" redirects here. For a similar metabolic condition, see Glutaric acidemia type 2.
Glutaric acidemia type 1
Other namesGlutaric aciduria, GA1, GAT1
Glutaric acid
SpecialtyEndocrinology
Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs[1]), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.
## Contents
* 1 Signs and symptoms
* 1.1 GA1 without encephalopathic crisis
* 1.1.1 Macrocephaly
* 1.2 GA1 after an encephalopathic crisis
* 1.2.1 Neuromotor aspects
* 1.2.1.1 Occupational therapy
* 1.2.2 Bleeding abnormalities
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 4.1 Correction of secondary carnitine depletion
* 4.2 Precursor restriction
* 4.2.1 Selective precursor restriction
* 4.2.1.1 Tryptophan
* 4.2.1.2 Lysine
* 4.2.2 Protein restriction
* 4.3 Enhancement of precursor's anabolic pathway
* 4.3.1 Lysine and hydroxylysine anabolic pathway enhancement
* 4.3.1.1 Interaction of GCDH deficiency with GLO deficiency
* 4.3.2 Tryptophan anabolic pathway enhancement
* 4.3.3 Management of intercurrent illnesses
* 5 Prognosis
* 6 Epidemiology
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe problems. GA1 can be defined as two clinical entities: GA-1 diagnosed at birth or pre-birth and managed through dietary restrictions, and GA-1 diagnosed after an encephalopathic crisis. A crisis may occur under both headings, but individuals diagnosed prior to a crisis can be managed to avoid most or all injury.
### GA1 without encephalopathic crisis[edit]
#### Macrocephaly[edit]
Babies with glutaric acidemia type 1 often are born with unusually large heads (macrocephaly). Macrocephaly is amongst the earliest signs of GA1. It is thus important to investigate all cases of macrocephaly of unknown origins for GCDH deficiency,[2][3] given the importance of the early diagnosis of GA1.[4] Macrocephaly is a "pivotal clinical sign" of many neurological diseases. Physicians and parents should be aware of the benefits of investigating for an underlying neurological disorder, particularly a neurometabolic one, in children with head circumferences in the highest percentiles.
### GA1 after an encephalopathic crisis[edit]
#### Neuromotor aspects[edit]
Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity or decreased muscle tone and muscle weakness (which may be the result of secondary carnitine deficiency). Glutaric aciduria type 1, in cases of suffered crisis, can be defined as a cerebral palsy of genetic origins.
##### Occupational therapy[edit]
A common way to manage striatal necrosis is to provide special seating. These special wheelchairs are designed to limit abnormal movements. However, spasticity can be worsened by constraint.
Parents and caregivers can provide a more interactive occupational therapy by enabling the child to use his or her own excessive postural muscle tone to his or her own advantage (see picture; note the care with which minimal pressure is applied while ensuring safety).
The excessive tone can also be managed with "jolly jumpers" and other aids to the upright stance that do not constrain the child but help him or her gradually tone down the rigidity. Lateral sulcus becomes non operculated.
#### Bleeding abnormalities[edit]
Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse.
## Genetics[edit]
The condition is inherited in an autosomal recessive pattern: mutated copies of the gene GCDH must be provided by both parents to cause glutaric acidemia type 1. The GCDH gene encodes the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in degrading the amino acids lysine, hydroxylysine and tryptophan. Mutations in the GCDH' gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences.[5][6] This enzyme deficiency allows glutaric acid, 3-hydroxyglutaric acid and (to a lesser extent) glutaconic acid to build up to abnormal levels, especially at times when the body is under stress. These intermediate breakdown products are particularly prone to affect the basal ganglia, causing many of the signs and symptoms of glutaric acidemia type 1.
Glutaric acidemia type 1 occurs in approximately 1 of every 30,000 to 40,000 births. It is much more common in the Amish community and in the Ojibway population of Canada, where up to 1 in 300 newborns may be affected.
Relatives of children with GA1 can have very low GCDH activity: in an early study of GA1, GCDH activity was found to be 38%, 42%, and 42% of controls in three of the four relatives tested.[7] Those levels are close to those found by Christensen & al[5] in some heavily symptomatic GA1-affected children.
## Diagnosis[edit]
Normally in MRI the Sylvian fissure is operculated, but in glutaric acidemia type 1, it is not operculated. In many areas, GA1 is included in newborn screening panels. Elevated glutarylcarnitine can be detected by mass spectrometry in a dried blood spot collected shortly after birth. After a positive screening result, confirmatory testing is performed. This includes urine organic acid analysis, looking for glutaric acid and 3-hydroxyglutaric acid. Plasma and urine acylcarnitine analysis can also be informative. Molecular analysis, including gene sequencing and copy number analysis of GCDH can be performed to confirm the diagnosis. Molecular testing can also provide information for family planning and prenatal testing, if desired.
## Treatment[edit]
### Correction of secondary carnitine depletion[edit]
Like many other organic acidemias, GA1 causes carnitine depletion.[8] Whole-blood carnitine can be raised by oral supplementation. However, this does not significantly change blood concentrations of glutarylcarnitine or esterified carnitine,[4] suggesting that oral supplementation is suboptimal in raising tissue levels of carnitine. In the field of clinical nutrition, researchers come to the same conclusion, that oral carnitine raises plasma levels but doesn't affect muscle carnitine, where most of it is stored and used.[9]
* In contrast, regular intravenous infusions of carnitine caused distinct clinical improvements: "decreased frequency of decompensations, improved growth, improved muscle strength and decreased reliance on medical foods with liberalization of protein intake."[8]
* Choline increases carnitine uptake and retention.[10] Choline supplements are inexpensive, safe (probably even in all children requiring anticholinergics) and can provide spectacular evidence of the suboptimal efficiency of carnitine supplementation by increasing exercise tolerance, truncal tone and general well-being.
### Precursor restriction[edit]
Dietary control may help limit progression of the neurological damage.
#### Selective precursor restriction[edit]
##### Tryptophan[edit]
Formulas such as XLys, XTrp Analog, XLys, XTrp Maxamaid, XLys, XTrp Maxamum or Glutarex 1 are designed to provide amino acids other than lysine and tryptophan, in order to tentatively prevent protein malnutrition.
The entry of tryptophan to the brain is crucial in the proper synthesis of the neurotransmitter serotonin in the brain. One way to acutely cause depression or bulimia or anxiety in humans, in order to assess an individual's vulnerability to those disorders, is to supplement with a formula with all or most amino acids except tryptophan. The protein synthesis elicited by the amino acids leads circulating amino acids, including tryptophan, to be incorporated into proteins. Tryptophan thus lowers in the brain as a result of the protein synthesis enhancement (causing circulating tryptophan to lower more than other amino acids),[11] and perhaps also competition of large neutral amino acids for transport across the blood–brain barrier through the large neutral amino acid transporter 1 (LNAA1). The consequence is acute tryptophan depletion (ATD) in the brain and a consecutive lowering of serotonin synthesis. ATD, which is basically a diagnostic procedure, is not a treatment for GA1.
In the Amish community, where GA1 is overrepresented (Morton, 2003), patients with GA1 did not and still don't receive tryptophan-free formulas, neither as the sole source of amino acids, nor as a supplement to protein restriction. Doctor D. Holmes Morton, the 1993 Albert Schweitzer Prize for Humanitarianism laureate, is taking care of patients affected with GA1 and other metabolic diseases in this community in his Clinic for Special Children.
5-hydroxytryptophan, the precursor of serotonin that is not metabolized to glutaryl-CoA, glutaric acid and secondary metabolites, could be used as an adjunct to selective tryptophan restriction, considering the risks associated with the procedure. However, the evidence in favour of selective tryptophan restriction remains insufficient and the consensus evolves towards the restriction of lysine only.[12]
##### Lysine[edit]
Lysine restriction, as well as carnitine supplementation, are considered the best predictors of a good prognosis for GA1.[12] This excludes, however, patients who already suffered an encephalopathic crisis, for whom the prognosis is more related to the treatment of their acquired disorder (striatal necrosis, frontotemporal atrophy).
#### Protein restriction[edit]
Vegetarian diets and, for younger children, breastfeeding[13] are common ways to limit protein intake without endangering tryptophan transport to the brain.
### Enhancement of precursor's anabolic pathway[edit]
#### Lysine and hydroxylysine anabolic pathway enhancement[edit]
A possible way to prevent the build-up of metabolites is to limit lysine and hydroxylysine degradation, as lysine is one of the most abundant amino acids and tryptophan is one of the least abundant amino acids.
##### Interaction of GCDH deficiency with GLO deficiency[edit]
While GCDH deficiency is a rare disease, GLO deficiency is the most common of metabolic diseases affecting children, limiting ascorbic acid biosynthesis to a minute fraction of what other non-primate species synthesize. It was thus called by OMIM (Online Mendeleian Inheritance in Man) a "public" error of metabolism. Ascorbic acid (Vitamin C) is a necessary cofactor for the utilization of lysine in collagen synthesis. Collagen, the most abundant protein in the human body, requires great amounts of lysine, the most abundant amino acids in proteins. Ascorbic acid, the main hydroxyl radical quencher, works as the cofactor providing the hydroxyl radical required to collagen cross-linking; lysine thus becomes hydroxylysine.
GA1 worsens during stresses and catabolic episodes, such as fasts and infections. Endogenous catabolism of proteins could be an important route for glutaric acid production. It thus follows that collagen breakdown (and protein breakdown in general) should be prevented by all possible means.
Ascorbic acid is used to prevent multiple organ failure and to lessen mortality and morbidity in intensive care units.[14] It thus appears reasonable to include sufficient doses of ascorbic acid to the treatment protocol during stresses and other challenges to growth in order to stimulate collagen synthesis and thus prevent lysine breakdown.
#### Tryptophan anabolic pathway enhancement[edit]
The conversion of tryptophan to serotonin and other metabolites depends on vitamin B6.[15] If tryptophan catabolism has any impact on brain glutaric acid and other catabolite levels, vitamin B6 levels should be routinely assayed and normalized in the course of the treatment of GA1.
#### Management of intercurrent illnesses[edit]
Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.
## Prognosis[edit]
A 2006 study of 279 patients found that of those with symptoms (185, 66%), 95% had suffered an encephalopathic crises usually with following brain damage. Of the persons in the study, 49 children died and the median age of death was 6.6 years. A Kaplan-Meier analysis of the data estimated that about 50% of symptomatic cases would die by the age of 25.[12] More recent studies provide an updated prognosis where individuals affected can, through proper dietary management and carnitine supplementation, manage the disease with a much improved prognosis. Newborn screening has allowed affected patients to avoid crises and live full lives without any injury to the brain. It is essential that victims of the disease be diagnosed at birth or pre-birth and that all variables be strictly managed in order to maintain quality of life. When suspected and in the absence of confirmed diagnosis (through genetic sequencing), it is critical that the individual maintain a diet restrictive of all proteins and that blood sugars be monitored rigorously. The WHO now considers this disease entirely manageable.[16]
## Epidemiology[edit]
GA1 can be described as a metabolic disorder, a neurometabolic disease, a cerebral palsy or a basal ganglia disorder (it is also misdiagnosed as shaken baby syndrome). Depending on the paradigm adopted, GA1 will mostly be managed with precursor restriction or with neurorehabilitation.
So-called "orphan diseases", such as GA1, can be adopted into wider groups of diseases (such as carnitine deficiency diseases, cerebral palsies of diverse origins, basal ganglia disorders, and others); Morton at al. (2003b) emphasize that acute striatal necrosis is a distinctive pathologic feature of at least 20 other disorders of very different etiologies (e.g. HIV encephalopathy-AIDS dementia complex, pneumococcal meningitis, hypoadrenal crisis, methylmalonic acidemia, propionic acidemia, middle cerebral artery occlusion, hypertensive vasculopathy, acute Mycoplasma pneumoniae infection, 3-nitropropionic acid intoxication, late onset familial dystonia, cerebrovascular abrupt and severe neonatal asphyxia ("selective neuronal necrosis")).
Amongst 279 patients who had been reported to have GA1, 185 were symptomatic (two thirds); being symptomatic was seen as an indication of "low treatment efficacy". High risk screening, neonatal screening and a diagnosis of macrocephaly were the ways to identify bearers of the GCDH' defective gene who weren't frankly symptomatic. Macrocephaly remains the main sign of GA1 for those who aren't related to GA1 in any way or benefit from no screening program. GA1 was considered as a "treatable disease".[12] Two thirds of the patients who have GA1 will receive little benefit from the treatment for GA1 but can benefit from treatments given to victims of middle cerebral artery occlusion, AIDS dementia and other basal ganglia disorders: brain implants, stem cell neurorestoration, growth factors, monoaminergic agents, and many other neurorehabilitation strategies.
## References[edit]
1. ^ Chow, S. L.; Rohan, C.; Morris, A. A. M.; Morris, A. A. M. (2003). "Case Report: Rhabdomyolysis in Glutaric Aciduria Type I". Journal of Inherited Metabolic Disease. 26 (7): 711–712. doi:10.1023/b:boli.0000005635.89043.8a. PMID 14707521.
2. ^ Mahfoud Hawilou, Antonieta; Domínguez Méndez, Carmen Luisa; Rizzo, Cristiano; Ribes Rubio, Antonia (2004). "Macrocefalia in utero como manifestación clínica de aciduria glutárica tipo I. Informe de una nueva mutación" [In Utero Macrocephaly as Clinical Manifestation of Glutaric Aciduria Type I. Report of a Novel Mutation]. Revista de Neurología (in Spanish). 39 (10): 939. doi:10.33588/rn.3910.2004258. PMID 15573311.
3. ^ Martínez Granero, MA; Garcia Pérez, A; Martínez-Pardo, M; Parra, E (2005). "Macrocefalia como forma de presentación de la aciduria glutárica tipo 1. Importancia de un diagnóstico precoz" [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis]. Neurología. 20 (5): 255–260. PMID 15954035.
4. ^ a b Strauss, Kevin A.; Puffenberger, Erik G.; Robinson, Donna L.; Morton, D. Holmes (15 August 2003). "Type I glutaric aciduria, part 1: Natural history of 77 patients". American Journal of Medical Genetics. 121C (1): 38–52. doi:10.1002/ajmg.c.20007. PMID 12888985.
5. ^ a b Christensen E, Aracil A, Vilaseca MA, Busquets C, Ribes A, Pineda M (1998). "Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity". Dev Med Child Neurol. 40 (12): 840–2. doi:10.1111/j.1469-8749.1998.tb12362.x. PMID 9881681.
6. ^ Christensen, E.; Ribes, A.; Merinero, B.; Zschocke, J. (2004). "Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 27 (6): 861–868. doi:10.1023/B:BOLI.0000045770.93429.3c. PMID 15505393.
7. ^ Whelan, DT; Hill, R; Ryan, ED; Spate, M (January 1979). "L-Glutaric acidemia: investigation of a patient and his family". Pediatrics. 63 (1): 88–93. PMID 440804.
8. ^ a b Winter, S. C. (2003). "Treatment of carnitine deficiency". Journal of Inherited Metabolic Disease. 26 (2): 171–180. doi:10.1023/a:1024433100257. PMID 12889658.
9. ^ Brass, Eric P (August 2000). "Supplemental carnitine and exercise". The American Journal of Clinical Nutrition. 72 (2): 618S–623S. doi:10.1093/ajcn/72.2.618S. PMID 10919968.
10. ^ Daily, James W.; Sachan, Dileep S. (July 1995). "Choline Supplementation Alters Carnitine Homeostasis in Humans and Guinea Pigs". The Journal of Nutrition. 125 (7): 1938–1944. doi:10.1093/jn/125.7.1938. PMID 7616311.
11. ^ Young SN (1993). "The use of diet and dietary components in the study of factors controlling affect in humans: a review". J Psychiatry Neurosci. 18 (5): 235–44. PMC 1188544. PMID 8297922.
12. ^ a b c d Kölker, Stefan; Garbade, Sven F; Greenberg, Cheryl R; Leonard, James V; Saudubray, Jean-Marie; Ribes, Antonia; Kalkanoglu, H Serap; Lund, Allan M; Merinero, Begoña; Wajner, Moacir; Troncoso, Mónica; Williams, Monique; Walter, John H; Campistol, Jaume; MartÍ-Herrero, Milagros; Caswill, Melissa; Burlina, Alberto B; Lagler, Florian; Maier, Esther M; Schwahn, Bernd; Tokatli, Aysegul; Dursun, Ali; Coskun, Turgay; Chalmers, Ronald A; Koeller, David M; Zschocke, Johannes; Christensen, Ernst; Burgard, Peter; Hoffmann, Georg F (June 2006). "Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency". Pediatric Research. 59 (6): 840–847. doi:10.1203/01.pdr.0000219387.79887.86. PMID 16641220.
13. ^ Gokcay, G.; Baykal, T.; Gokdemir, Y.; Demirkol, M. (April 2006). "Breast feeding in organic acidaemias". Journal of Inherited Metabolic Disease. 29 (2–3): 304–310. doi:10.1007/s10545-005-0255-y. PMID 16763892.
14. ^ Lovat, R.; Preiser, J. C. (2003). "Antioxidant therapy in intensive care". Current Opinion in Critical Care. 9 (4): 266–270. doi:10.1097/00075198-200308000-00003. PMID 12883280.
15. ^ Hartvig, P.; Lindner, K. J.; Bjurling, P.; Långström, B.; Tedroff, J. (June 1995). "Pyridoxine effect on synthesis rate of serotonin in the monkey brain measured with positron emission tomography". Journal of Neural Transmission. 102 (2): 91–97. doi:10.1007/BF01276505. PMID 8748674.
16. ^ Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (16 November 2016). "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision". Journal of Inherited Metabolic Disease. 40 (1): 75–101. doi:10.1007/s10545-016-9999-9. PMID 27853989.
## Further reading[edit]
* Mahfoud Hawilou, Antonieta; Domínguez Méndez, Carmen Luisa; Rizzo, Cristiano; Ribes Rubio, Antonia (2004). "Macrocefalia in utero como manifestación clínica de aciduria glutárica tipo I. Informe de una nueva mutación" [In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation]. Revista de Neurología (in Spanish). 39 (10): 939–942. doi:10.33588/rn.3910.2004258. PMID 15573311.
* Martínez Granero MA, Garcia Pérez A, Martínez-Pardo M, Parra E (2005). "[Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis.]". Neurologia (in Spanish). 20 (5): 255–60. PMID 15954035.
* Strauss KA, Morton DH (2003). "Type I glutaric aciduria, part 2: a model of acute striatal necrosis" (PDF). Am J Med Genet C Semin Med Genet. 121C (1): 53–70. doi:10.1002/ajmg.c.20008. PMID 12888986. Archived from the original (– Scholar search) on January 30, 2005. see also Part 1 referenced above
## External links[edit]
* Glutaric aciduria type 1 at NLM Genetics Home Reference - Type 1
Classification
D
* ICD-10: E72.3
* OMIM: 231670
* MeSH: C536833 C536833, C536833
* DiseasesDB: 29830
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Glutaric aciduria type 1 | c0268595 | 28,854 | wikipedia | https://en.wikipedia.org/wiki/Glutaric_aciduria_type_1 | 2021-01-18T18:30:40 | {"gard": ["6522"], "mesh": ["C536833"], "umls": ["C0268595"], "icd-10": ["E72.3"], "orphanet": ["25"], "wikidata": ["Q2140501"]} |
In ophthalmology, apraxia of lid opening (ALO) is an inability to initiate voluntary opening of the eyelid following a period of eyelid closure, with normal function at other times. Manual lifting of the eyelid often resolves the problem and the lid is able to stay open.
ALO was first clearly described as a distinct entity in 1965 as “a nonparalytic motor abnormality characterized by the patient’s difficulty in initiating the act of lid elevation present only momentarily at the start of lid opening.”[1]
A review of reported cases has shown a 2:1 female to male occurrence, and onset usually in the sixth decade of life.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
## Signs and symptoms[edit]
A person with ALO may complain of occasionally being unable to open the eye at will, typically after prolonged closure. Oftentimes, ALO only persists momentarily and the ptosis resolves upon manually lifting the eyelid. During attempted lid opening, there may be forceful frontalis muscle contraction, backward thrusting of the head, or opening of the mouth noted.[3]
## Causes[edit]
The exact cause of ALO is not yet fully understood. Despite its name, it is not a true apraxia, but thought to be due to a supranuclear origin of abnormal neuronal activity. Voluntary eyelid opening involves the simultaneous activation of the levator palpebrae superioris muscle and the inhibition of the orbicularis oculi muscle. Electromyographic studies[4][5][6][7][8] have shown that ALO may involve either involuntary levator palpebrae superioris muscle inhibition, persistent pretarsal orbicularis oculi muscle contraction, or both. Hypometabolism of glucose may play a part, and has been documented in the basal ganglia, frontal lobe, and the primary visual cortex in some cases of ALO.[9][10]
While often an isolated condition, ALO sometimes occurs in conjunction with blepharospasm,[11][12][13] which may complicate the diagnosis and treatment. Additionally, several diseases as well as medications have been reported in association with ALO. It has been reported in cases of extrapyramidal disorders, including Parkinson’s disease, parkinsonism, progressive supranuclear palsy,[14] hydrocephalus,[15] motor neuron disease,[16] Shy–Drager syndrome,[8] and various lesions in the brain.[17][18][19][10] Medications that have been associated include Lithium,[20] sulpiride,[21] and a meperidine analog, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine.[22]
## Diagnosis[edit]
ALO is often a benign and unilateral condition, and extensive evaluation may not be necessary. The diagnosis may be a clinical diagnosis based on a thorough history and physical exam, and being able to exclude other diagnoses and pathology. Computed tomography (CT) or magnetic resonance imaging (MRI) may be ordered to help determine whether there is a lesion or other pathological cause present in the brain or brainstem. Electromyography may be used to aid the diagnosis.
## Treatment[edit]
Botulinum toxin injected into the pretarsal orbicularis oculi muscle has been shown to be beneficial in some cases associated with orbicularis oculi contraction or blepharospasm.[23][24] Levodopa has been reported to improve symptoms in patients with Parkinson’s disease and progressive supranuclear palsy.[25][26][27] There have also been reports of improvement with trihexyphenidyl[28] and valproic acid.[29] Surgical treatment may be considered in severe cases or cases that occur with blepharospasm.[30][31]
## Prognosis[edit]
A person with isolated ALO has an excellent prognosis. Prognosis for ALO in association with other diseases depends on the underlying condition. When it is drug-induced, ALO may resolve within weeks to months upon cessation of the agent.[20][21]
## See also[edit]
* Ptosis (eyelid)
* Blepharospasm
* Apraxia
* Myokymia
## References[edit]
1. ^ Goldstein JE, Cogan DG. Apraxia of Lid Opening. Arch Ophthalmol. 1965 Feb. 73:155-9
2. ^ Defazio G, Livrea P, Lamberti P, De Salvia R, Laddomada G, Giorelli M, et al. Isolated so-called apraxia of eyelid opening: report of 10 cases and a review of the literature. Eur Neurol. 1998\. 39(4):204-10
3. ^ Ugarte M, Teimory M. Apraxia of lid opening. Br J Ophthalmol. 2007 Jul. 91(7):854
4. ^ Aramideh M, Bour LJ, Koelman JH, Speelman JD, Ongerboer de Visser BW. Abnormal eye movements in blepharospasm and involuntary levator palpebrae inhibition. Clinical and pathophysiological considerations. Brain. 1994 Dec. 117 (Pt 6):1457-74
5. ^ Esteban A, Gimenez-Roldan S. Involuntary closure of eyelids in parkinsonism. Electrophysiological evidence for prolonged inhibition of the levator palpebrae muscles. J Neurol Sci. 1988 Jul. 85(3):333-45
6. ^ Esteban A, Gimenez-Roldan S. Nociceptive reflex of the orbicularis oculi. Study in normal subjects and in peripheral facial lesions. Arch Neurobiol (Madr). 1973 Jul-Aug. 36(4):283-94
7. ^ Elston JS. A new variant of blepharospasm. J Neurol Neurosurg Psychiatry. 1992 May. 55(5):369-71
8. ^ a b Lepore FE, Duvoisin RC. Apraxia of eyelid opening: an involuntary levator inhibition. Neurology. 1985 Mar. 35(3):423-7
9. ^ Smith D, Ishikawa T, Dhawan V, Winterkorn JS, Eidelberg D. Lid opening apraxia is associated with medial frontal hypometabolism. Mov Disord. 1995 May. 10(3):341-4
10. ^ a b Suzuki Y, Kiyosawa M, Ohno N, Mochizuki M, Inaba A, Mizusawa H, et al. Glucose hypometabolism in medial frontal cortex of patients with apraxia of lid opening. Graefes Arch Clin Exp Ophthalmol. 2003 Jul. 241(7):529-34
11. ^ Jordan DR, Anderson RL, Digre KB. Apraxia of lid opening in blepharospasm. Ophthalmic Surg. 1990 May. 21(5):331-4
12. ^ Krack P, Marion MH. Apraxia of lid opening, a focal eyelid dystonia: clinical study of 32 patients. Mov Disord. 1994 Nov. 9(6):610-5
13. ^ Hsieh CY, Sung PS, Hwang WJ. Transient blepharospasm, apraxia of eyelid opening, and hemidyskinesia following a right parietotemporal infarct. Parkinsonism Relat Disord. 2014 Sep. 20(9):1024-6
14. ^ Golbe LI, Davis PH, Lepore FE. Eyelid movement abnormalities in progressive supranuclear palsy. Mov Disord. 1989\. 4(4):297-302
15. ^ Roh JK, Kim BG, Kim DE, Ahn TB. Apraxia of lid opening associated with hydrocephalus. Eur Neurol. 2001\. 45(1):53-4
16. ^ Abe K, Fujimura H, Tatsumi C, Toyooka K, Yorifuji S, Yanagihara T. Eyelid "apraxia" in patients with motor neuron disease. J Neurol Neurosurg Psychiatry. 1995 Dec. 59(6):629-32
17. ^ Schmidtke K, Büttner-Ennever JA. Nervous control of eyelid function. A review of clinical, experimental and pathological data. Brain. 1992 Feb. 115 Pt 1:227-47
18. ^ De Renzi E, Gentilini M, Bazolli C. Eyelid movement disorders and motor impersistence in acute hemisphere disease. Neurology. 1986 Mar. 36(3):414-8
19. ^ Smith D, Ishikawa T, Dhawan V, Winterkorn JS, Eidelberg D. Lid opening apraxia is associated with medial frontal hypometabolism. Mov Disord. 1995 May. 10(3):341-4
20. ^ a b Micheli F, Cersosimo G, Scorticati MC, Ledesma D, Molinos J. Blepharospasm and apraxia of eyelid opening in lithium intoxication. Clin Neuropharmacol. 1999 May-Jun. 22(3):176-9
21. ^ a b Tsuji S, Kikkawa S, Horiguchi J, Yamashita H, Kagaya A, Morinobu S, et al. Meige syndrome with apraxia of lid opening after the discontinuation of sulpiride treatment. Pharmacopsychiatry. 2002 Jul. 35(4):155-6
22. ^ Langston JW, Ballard P, Tetrud JW, Irwin I. Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science. 1983 Feb 25. 219(4587):979-80
23. ^ Forget R, Tozlovanu V, Iancu A, Boghen D. Botulinum toxin improves lid opening delays in blepharospasm-associated apraxia of lid opening. Neurology. 2002 Jun 25. 58(12):1843-6
24. ^ Jankovic J. Disease-oriented approach to botulinum toxin use. Toxicon. 2008 Dec 6
25. ^ Yamada S, Matsuo K, Hirayama M, Sobue G. The effects of levodopa on apraxia of lid opening: A case report. Neurology. 2004 Mar 9. 62(5):830-1
26. ^ Dewey RB Jr, Maraganore DM. Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome. Neurology. 1994 Sep. 44(9):1752-4
27. ^ Lee KC, Finley R, Miller B. Apraxia of lid opening: dose-dependent response to carbidopa-levodopa. Pharmacotherapy. 2004 Mar. 24(3):401-3
28. ^ Klostermann W, Vieregge P, Kompf D. Apraxia of eyelid opening after bilateral stereotaxic subthalamotomy. J Neuroophthalmol. 1997 Jun. 17(2):122-3
29. ^ Chand RP, Park DM. Atypical blepharospasm responsive to sodium valproate. Mov Disord. 1994 Jan. 9(1):116-7
30. ^ Kerty E, Eidal K. Apraxia of eyelid opening: clinical features and therapy. Eur J Ophthalmol. 2006 Mar-Apr. 16(2):204-8
31. ^ Georgescu D, Vagefi MR, McMullan TF, McCann JD, Anderson RL. Upper eyelid myectomy in blepharospasm with associated apraxia of lid opening. Am J Ophthalmol. 2008 Mar. 145(3):541-547
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Apraxia of lid opening | c1864184 | 28,855 | wikipedia | https://en.wikipedia.org/wiki/Apraxia_of_lid_opening | 2021-01-18T18:54:11 | {"umls": ["C1864184"], "wikidata": ["Q25313299"]} |
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental delays. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited. Treatment of WAGR syndrome is aimed at addressing the specific symptoms that are present in each individual.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| WAGR syndrome | c0206115 | 28,856 | gard | https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome | 2021-01-18T17:57:09 | {"mesh": ["D017624"], "omim": ["194072"], "orphanet": ["893"], "synonyms": ["Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome", "WAGR Complex", "Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome", "Chromosome 11p deletion syndrome", "11p deletion syndrome", "AGR triad", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive ocular coloboma is caused by homozygous mutation in the SALL2 gene (602219) on chromosome 14q11. One such family has been reported.
Description
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).
For a discussion of genetic heterogeneity of ocular coloboma, see 120200.
Clinical Features
Kelberman et al. (2014) studied a consanguineous Kuwaiti family in which 3 sibs exhibited nonsyndromic coloboma. The oldest affected sib, who was examined at 13 years of age, presented with bilateral typical inferior iris coloboma and marked retinochoroidal coloboma. In addition, she had mild lens opacity, bilateral manifest-latent nystagmus, and left exotropia with poor fixation in the left eye. Visual-evoked potentials (VEPs) and visual acuity were reduced on the left. Her 11-year-old brother had bilateral retinochoroidal and optic disc coloboma, subluxation of the right lens, esotropia and hypertropia of the right eye, and bilateral rapid manifest-latent nystagmus. VEPs were poor on the left and moderate on the right, and visual acuity was more reduced on the left (20/200) than the right (20/40). Her 9-year-old brother had severely decreased vision in his left eye (hand movements only) associated with a large retinochoroidal coloboma involving the optic disc; the right fundus appeared normal, with a visual acuity of 20/125. In addition, he had hypertropia, variable esotropia, and manifest-latent nystagmus on the left. VEPs were consistent with very rudimentary vision on the left. He also had a small left cornea, but axial length of that eye was not measured. Full pediatric review of the 3 affected sibs showed no neurologic, developmental, or renal abnormalities. Ophthalmologic examination of their unaffected first-cousin parents and 3 other brothers showed no abnormalities.
Inheritance
Pagon et al. (1981) reported ocular coloboma in a brother and sister with unaffected and unrelated parents; the authors suggested possible recessive inheritance.
The transmission pattern of ocular coloboma in the family reported by Kelberman et al. (2014) was consistent with autosomal recessive inheritance.
Population Genetics
Kelberman et al. (2014) stated that coloboma is estimated to account for 3 to 11% of blindness in children worldwide. The prevalence varies by population, ranging from 4 to 19 per 100,000 live births across Europe with higher rates reported in populations with a high degree of consanguinity.
Mapping
In a consanguineous Kuwaiti family in which 3 sibs exhibited nonsyndromic coloboma, Kelberman et al. (2014) performed homozygosity mapping and identified 2 loci that were greater than 2 Mb in size and common to all 3 affected sibs: a 5.3-Mb segment on chromosome 8p11.1, and a 15.5-Mb region on chromosome 14q11.2.
Molecular Genetics
In an affected individual from a consanguineous Kuwaiti family with coloboma linking to either chromosome 8p11 or 14q11, Kelberman et al. (2014) performed exome sequencing and identified a single coding variant within the largest region of homozygosity on chromosome 14: a nonsense mutation in the SALL2 gene (E29X; 602219.0001). The mutation, which was confirmed by Sanger sequencing, was shown to be homozygous in all 3 affected sibs and heterozygous in both parents; DNA from the 3 unaffected sibs was unavailable for analysis. The variant was not found in 6,500 exomes from the NHLBI Exome Variant Server database. Analysis of SALL2 in 178 patients with coloboma and associated anophthalmia/microphthalmia phenotypes revealed no pathogenic variants.
Animal Model
Kelberman et al. (2014) generated Sall2 (602219)-null mice and observed no overt phenotypic abnormalities; however, histologic analysis of the eyes revealed a colobomatous phenotype, with delayed apposition of the optic fissure margins and persistence of an anterior retinal coloboma phenotype after birth. There was no evidence for a small eye phenotype in any of the homozygous Sall2-null mutant eyes at either the embryonic or adult stage.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Coloboma, inferior iris \- Coloboma, retinochoroidal \- Coloboma of optic disc \- Nystagmus, manifest-latent \- Reduced visual evoked potentials \- Decreased visual acuity \- Exotropia (in some patients) \- Esotropia (in some patients) \- Hypertropia (in some patients) \- Lens opacity, mild (in some patients) \- Lens subluxation (in some patients) \- Small cornea (in some patients) MISCELLANEOUS \- Based on report of one consanguineous Kuwaiti family (last curated December 2014) MOLECULAR BASIS \- Caused by mutation in the SAL-like 2 gene (SALL2, 602219.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | c4011974 | 28,857 | omim | https://www.omim.org/entry/216820 | 2019-09-22T16:29:30 | {"doid": ["12270"], "omim": ["216820"], "orphanet": ["98553"], "synonyms": []} |
Chronic systemic inflammation (SI) is the result of release of pro-inflammatory cytokines from immune-related cells and the chronic activation of the innate immune system.
It can contribute to the development or progression of certain conditions such as coronary heart disease.[1]
## Contents
* 1 Mechanisms
* 2 Comorbidities
* 3 Research
* 4 See also
* 5 References
## Mechanisms[edit]
Release of pro-inflammatory cytokines and activation of the innate immune system may be the result of either external (biological or chemical agents) or internal (genetic mutations/variations) factors. The cytokine Interleukin 6 and C-reactive protein are common inflammatory markers used to diagnose systemic inflammation risk.[2] Baseline C-reactive protein levels deviate due to natural genetic variation, but significant increases can result from risk factors such as smoking, obesity, lifestyle, and high blood pressure.[2]
## Comorbidities[edit]
It is firmly established that systemic markers for inflammation predict coronary heart disease complications with or without existing heart disease.[1] Inflammation also plays a role in diabetes risk and new research continues to support this conclusion.[3]
Research suggests chronic inflammation plays a major role in COVID-19 morbidity.[4][5] In severe cases, COVID-19 causes a cytokine storm which contributes to excessive and uncontrolled inflammation of organs, particularly respiratory tissues.[6][7] If untreated, this increased inflammation can result in reduced immune response, pneumonia, lymphoid tissue damage, and death.[6] Individuals with abnormal cytokine production, such as those with obesity or systemic chronic inflammation, have a poorer health outcomes from COVID-19.[4][5] Elevated cytokine production alters the innate immune response which leads to abnormal T-cell and B-Cell function that decreases control of viral replication and host defense.[4] Anti-viral therapeutic drugs which also reduce inflammation seem to be the most effective treatment, but research is still ongoing.[7] Reactive oxygen species are upregulated during inflammation as part of the immune response to defend against pathogens.[8] However, excessive inflammation causes dangerous levels of reactive oxygen species which cause oxidative stress to tissues.[8] The immune system naturally produces antioxidant compounds to regulate and detoxify reactive oxygen species.[8] Anti-oxidative therapy with supplements such as Vitamin C, Vitamin E, Curcumin, or Baicalin is speculated to reduce infection severity in COVID-19,[9][7] but previous research has not found antioxidants supplementation to be effective in the prevention of other diseases.[10] Shifting from the typical western diet to a Mediterranean diet or plant-based diet may improve COVID-19 health outcomes by reducing prevalence of comorbidities (i.e. obesity or hypertension), decreasing intake of pro-inflammatory foods, and increasing consumption of anti-inflammatory and antioxidant nutrients.[7][11][12]
## Research[edit]
While SI may be induced by multiple external factors, research suggests that a lack of control by tolerogenic dendritic cells and T-regulatory cells (Treg) is possibly the primary risk factor for the development of SI. In functioning immune responses, T-helper and T-cytotoxic cells are activated by presentation of antigens by antigen-presenting cells (APCs). Chief among these are dendritic cells (DCs). When a DC presents an antigen to a Treg cell, a signal is then sent to the nucleus of the DC, resulting in the production of Indoleamine 2,3- Dioxygenase (IDO). IDO inhibits T cell responses by depleting tryptophan and producing kynurenine, which is toxic to the cell.
Individuals susceptible to developing chronic systemic inflammation appear to lack proper functioning of Treg cells and TDCs. In these individuals, a lack of control of inflammatory processes results in multiple chemical and food intolerances, autoimmune diseases.
## See also[edit]
* Appendicitis
* Bursitis
* Colitis
* Cystitis
* Dermatitis
* Phlebitis
* RSD/CRPS
* Rhinitis
* Tendonitis
* Tonsillitis
* Vasculitis
* Disease
* Systemic disease
* Adult-onset Still's disease
## References[edit]
1. ^ a b Sattar N, McCarey DW, Capell H, McInnes IB (December 2003). "Explaining how "high-grade" systemic inflammation accelerates vascular risk in rheumatoid arthritis". Circulation. 108 (24): 2957–63. doi:10.1161/01.CIR.0000099844.31524.05. PMID 14676136.
2. ^ a b Sproston, Nicola R.; Ashworth, Jason J. (2018-04-13). "Role of C-Reactive Protein at Sites of Inflammation and Infection". Frontiers in Immunology. 9: 754. doi:10.3389/fimmu.2018.00754. ISSN 1664-3224. PMC 5908901. PMID 29706967.
3. ^ Tsalamandris, Sotirios; Antonopoulos, Alexios S.; Oikonomou, Evangelos; Papamikroulis, George-Aggelos; Vogiatzi, Georgia; Papaioannou, Spyridon; Deftereos, Spyros; Tousoulis, Dimitris (February 2019). "The Role of Inflammation in Diabetes: Current Concepts and Future Perspectives". European Cardiology Review. 14 (1): 50–59. doi:10.15420/ecr.2018.33.1. ISSN 1758-3756. PMC 6523054. PMID 31131037.
4. ^ a b c Chiappetta, Sonja; Sharma, Arya M.; Bottino, Vincenzo; Stier, Christine (May 2020). "COVID-19 and the role of chronic inflammation in patients with obesity". International Journal of Obesity. 44 (8): 1790–1792. doi:10.1038/s41366-020-0597-4. ISSN 1476-5497. PMC 7224343. PMID 32409680.
5. ^ a b Yang, Jing; Zheng, Ya; Gou, Xi; Pu, Ke; Chen, Zhaofeng; Guo, Qinghong; Ji, Rui; Wang, Haojia; Wang, Yuping; Zhou, Yongning (May 2020). "Prevalence of comorbidities and its effects in patients infected with SARS-CoV-2: a systematic review and meta-analysis". International Journal of Infectious Diseases. 94: 91–95. doi:10.1016/j.ijid.2020.03.017. ISSN 1201-9712. PMC 7194638. PMID 32173574.
6. ^ a b Tang, Yujun; Liu, Jiajia; Zhang, Dingyi; Xu, Zhenghao; Ji, Jinjun; Wen, Chengping (2020-07-10). "Cytokine Storm in COVID-19: The Current Evidence and Treatment Strategies". Frontiers in Immunology. 11: 1708. doi:10.3389/fimmu.2020.01708. ISSN 1664-3224. PMC 7365923. PMID 32754163.
7. ^ a b c d Zabetakis, Ioannis; Lordan, Ronan; Norton, Catherine; Tsoupras, Alexandros (2020-05-19). "COVID-19: The Inflammation Link and the Role of Nutrition in Potential Mitigation". Nutrients. 12 (5): 1466. doi:10.3390/nu12051466. ISSN 2072-6643. PMC 7284818. PMID 32438620.
8. ^ a b c Mittal, Manish; Siddiqui, Mohammad Rizwan; Tran, Khiem; Reddy, Sekhar P.; Malik, Asrar B. (2014-03-01). "Reactive Oxygen Species in Inflammation and Tissue Injury". Antioxidants & Redox Signaling. 20 (7): 1126–1167. doi:10.1089/ars.2012.5149. ISSN 1523-0864. PMC 3929010. PMID 23991888.
9. ^ Wang, Jing-Zhang; Zhang, Rui-Ying; Bai, Jing (2020-08-01). "An anti-oxidative therapy for ameliorating cardiac injuries of critically ill COVID-19-infected patients". International Journal of Cardiology. 312: 137–138. doi:10.1016/j.ijcard.2020.04.009. ISSN 0167-5273. PMC 7133895. PMID 32321655.
10. ^ Katsiki, Niki; Manes, Christos (February 2009). "Is there a role for supplemented antioxidants in the prevention of atherosclerosis?". Clinical Nutrition (Edinburgh, Scotland). 28 (1): 3–9. doi:10.1016/j.clnu.2008.10.011. ISSN 1532-1983. PMID 19042058.
11. ^ Rishi, Praveen; Thakur, Khemraj; Vij, Shania; Rishi, Lavanya; Singh, Aagamjit; Kaur, Indu Pal; Patel, Sanjay K. S.; Lee, Jung-Kul; Kalia, Vipin C. (2020-09-28). "Diet, Gut Microbiota and COVID-19". Indian Journal of Microbiology. 60 (4): 420–429. doi:10.1007/s12088-020-00908-0. ISSN 0046-8991. PMC 7521193. PMID 33012868.
12. ^ Di Renzo, Laura; Gualtieri, Paola; Pivari, Francesca; Soldati, Laura; Attinà, Alda; Cinelli, Giulia; Leggeri, Claudia; Caparello, Giovanna; Barrea, Luigi; Scerbo, Francesco; Esposito, Ernesto (2020-06-08). "Eating habits and lifestyle changes during COVID-19 lockdown: an Italian survey". Journal of Translational Medicine. 18 (1): 229. doi:10.1186/s12967-020-02399-5. ISSN 1479-5876. PMC 7278251. PMID 32513197.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Systemic inflammation | None | 28,858 | wikipedia | https://en.wikipedia.org/wiki/Systemic_inflammation | 2021-01-18T18:34:40 | {"wikidata": ["Q7663815"]} |
A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial temporal lobe epilepsy | c1842564 | 28,859 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98819 | 2021-01-23T18:39:40 | {"gard": ["5135"], "mesh": ["C536956"], "omim": ["608096", "611631"], "umls": ["C1842564"], "icd-10": ["G40.2"]} |
Hapalonychia
Other namesEgg-shell nail
Detached nail (in this image, due to crushing injury).
Hapalonychia, is a condition in which a toenail or fingernail (or multiple nails) nail becomes soft and thin, causing it to easily bend or break. This can result from an inherited condition, [1]:786 malnutrition, or debility.
Nails often reflect underlying systemic health and nutrition issues. Although overall well-being is not typically determined by nail health, fissures, nail fissures (or breaks) and calcium spots are minor indications of inner health.[2] Hapalonychia is known to occur in persons suffering from myxedema, rheumatoid arthritis, anorexia, bulimia, Hansen's disease, Raynaud phenomenon, oral retinoid therapy, and radiodermatitis.
## See also[edit]
* Nail anatomy
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ De, Dipankar; Seshadri, Divya (2012). "Nails in nutritional deficiencies". Indian Journal of Dermatology, Venereology, and Leprology. 78 (3): 237–41. doi:10.4103/0378-6323.95437. PMID 22565422.
This condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hapalonychia | c0263528 | 28,860 | wikipedia | https://en.wikipedia.org/wiki/Hapalonychia | 2021-01-18T18:46:28 | {"umls": ["C0263528"], "wikidata": ["Q5651555"]} |
Dystrophic calcinosis cutis
SpecialtyDermatology
Dystrophic calcinosis cutis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus, and occurs in a preexisting skin lesion of inflammatory process.[1]:527
## See also[edit]
* Calcinosis cutis
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dystrophic calcinosis cutis | c0546397 | 28,861 | wikipedia | https://en.wikipedia.org/wiki/Dystrophic_calcinosis_cutis | 2021-01-18T18:49:49 | {"wikidata": ["Q5319589"]} |
## Description
Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (191540), was lost during vertebrate evolution.
Cloning and Expression
Vigetti et al. (2000) cloned the first vertebrate cDNA of allantoicase (ALLC) from the amphibian Xenopus laevis and found that its sequence showed high homology with the sequences of allantoicase in yeast. Using the sequence of the Xenopus cDNA, Vigetti et al. (2000) isolated a human ALLC cDNA from a fetal spleen cDNA library and an adult kidney EST clone. RT-PCR analysis on a panel of 7 human tissues detected an ALLC transcript in testis and, with a weaker signal, in prostate. Northern blot analysis detected a 1.8-kb signal in testis only.
Using the sequence of Xenopus allantoicase cDNA, Vigetti et al. (2001) cloned an Allc mouse cDNA encoding a hypothetical 414-amino acid protein. Northern blot analysis detected a 1.6-kb Allc transcript in testis only. RT-PCR analysis also detected Allc in testis only.
Gene Function
In mammals, the uric acid degradation pathway ends with the formation of allantoin and allantoicase activity is absent (Noguchi et al., 1979). Vigetti et al. (2000) suggested that the absence of human ALLC activity results from an incorrect splicing mechanism. Vigetti et al. (2001) hypothesized that mouse Allc mRNA remains untranslated or that the protein is synthesized, but somehow is not functional.
Evolution
Because allantoicase activity is absent not only in mammals but also in birds and reptiles, Vigetti et al. (2001) suggested that this enzymatic activity was probably lost during the colonization of the terrestrial environment by vertebrates.
Mapping
Using a somatic cell hybrid panel, Vigetti et al. (2000) mapped the human ALLC gene to chromosome 2. By database and sequence analysis, Vigetti et al. (2002) suggested that the gene is located at 2p25. They stated that the mouse Allc gene maps to chromosome 12.
Gene Structure
Vigetti et al. (2002) determined that the structure of the mouse and human ALLC gene is well conserved. Both genes are approximately the same size and contain 11 exons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ALLANTOICASE | c3888005 | 28,862 | omim | https://www.omim.org/entry/612396 | 2019-09-22T16:01:34 | {"omim": ["612396"]} |
Hecht Scott syndrome
Other namesFibular aplasia-tibial campomelia-oligosyndactyly syndrome
Diagnostic methodRadiographs, physical examination
ManagementOrthoses, Limb lengthening, Epiphysiodesis, Early amputations, Prosthesis
Hecht Scott syndrome (also known as fibular aplasia-tibial campomelia-oligosyndactyly syndrome) is a rare genetic disease that causes congenital limb formation.[1] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia) of the limb.[2] It is currently presenting in less than 1 in 1,000,000 newborns.[3] It has been known to be more commonly present in males.[1] It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.[4]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Treatment
* 4 History
* 5 Cases
* 6 References
## Signs and symptoms[edit]
Hecht Scott syndrome effects the tibia and fibula.[2] Common physical symptoms show a short leg, the ankle and foot being short and deformed, absence of rays and bowing of the tibia.[5] Another physical symptom is the presence of contralateral oligosyndactyly of the hand.[2] Hecht Scott syndrome is also associated with psychosocial morbidity and mortality.[5] Therefore, early diagnosis and treatment of this syndrome is vital.[5] Prenatal screening can reveal whether the child will have Hecht Scott syndrome by observing skeletal abnormalities.[6]
## Genetics[edit]
WNT7A is a gene that is a member of the WNT family.[7] The WNT family consists of structurally related genes.[7] Mutations in WNT7A causes a range of diseases associated with limb malformations.[8] Such diseases include Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome.[8] However, in the case of Hecht Scott syndrome there seems to be no mutation in the WNT7A gene.[1][8] Furthermore, there is a cluster of homeobox D genes on chromosome 2 that participates in the development of limbs.[1] There is no evidence of mutations on these genes being the cause of Hecht Scott syndrome. There is no conclusive prognosis of mutation in genes causing Hecht Scott evidence but due to the high prevalence of this disease in males, it was suggested by Hecht and Scott that the disease has an "autosomal dominant gene with decreased penetrance or gonadal mosaicism."[4] Evans et al. have also defined Hecht Scott syndrome as a "heterogeneous disorder with a dominant inheritance".[9]
Hecht Scott syndrome often gets confused with Fuhrmann syndrome.[10] However, in the case of Fuhrmann's syndrome, there is a homozygous mutation of WNT7A gene[10] Furthermore, Fuhrmann syndrome patients present with pelvic and femur abnormalities.[11]
## Treatment[edit]
There is no prevention of Hecht Scott syndrome as there is no clear understanding of the causation of this disease. However, there are possible methods to treat this disease. This includes:
* Uses of orthoses[5]
* Limb lengthening[5]
* Epiphysiodesis[5]
* Early amputations[5]
* Application of a prosthesis[5]
There has been positive feedback with the use of Syme amputation.[5]
## History[edit]
Hecht Scott syndrome was first described in literature in 1981 by Jacqueline T. Hecht and Charles I. Scott, Jr.[4] They outlined the symptoms in a male and a female. Hecht and Scott suggested that there was a genetic etiology as the same symptoms appeared in half-siblings.[4] They further narrowed it down to an "autosomal dominant mutant gene with decreased penetrance or gonadal mosaicism in the mother".[4]
Courtens et al. first published their findings on Fibular Aplasia Tibial Campomelia and Oligosyndactyly (FATCO) in 2005 in the American Journal of Medical Genetics. They identified a newborn male with similar symptoms as described in Hecht and Scott's journal and four other cases.[4] The common finding amongst all five journals was fibular aplasia, tibial campomelia, and oligosyndactly.[2] Courtens et al. then proposed to call this disease fibular-aplasia, tibial-oligosyndactly (FATCO) syndrome.[2] It was also named as Hecht Scott syndrome due to the authors of the original paper that described the disease.
## Cases[edit]
Case I (Jacqueline T. Hecht and Charles I. Scott, Jr., 1981)
A Caucasian male was born to a 16 year old woman and a 19 year old man in 1974.[4] The couple were not married nor related.[4] Pregnancy and birth process revealed no complications.[4] Limb deficiencies were identified at birth:
* Absent hands[4]
* Absent right foot[4]
* Absent left leg distal to the knee[4]
X-ray films were lost; however, the reports revealed:
* Bilateral absent hands distal to the radius and ulna[4]
* Absent right foot distal to tibia and fibula[4]
* Absent left leg distal to femoral epiphysis[4]
The newborn also developed a cyanotic heart disease and died after 11 days.[4]
Case II (Jacqueline T. Hecht and Charles I. Scott, Jr., 1981)
A 5 month old Caucasian female was born to a 21 year old female and 18 year old father.[4] The couple were married and unrelated[4] Unlike case I, the pregnancy was complicated with significant dependent oedema during the fifth and sixth months.[4] During the sixth month of the pregnancy, bleeding increased significantly.[4] Four days after birth, respiratory distress syndrome was identified but resolved.[4] Limb abnormalities were immediately identified:
* Absence of right hand[4]
* Right forearm with a soft tissue constriction[4]
* Left forearm with syndactyly of 2 digits[4]
* Bilateral anterior bowing[4]
* Bilateral oligodactyly of the feet[4]
At 9 months, the infant was a well-developed infant who developed normally for her age.[4] Family history revealed no signs of skeletal abnormality.[4]
Case III (G. Capece, A. Fasolino, M. Della Monica, F. Lonardo, G. Scarano and G. Neri, 1994)
Healthy, unrelated parents had a prenatal screening performed which revealed a foetus with skeletal abnormalities.[6] The pregnancy was terminated at 24 weeks after extensive counselling.[6] Chromosomal analysis revealed normal results with no mutations.[6] The ultrasound results revealed the following skeletal abnormalities:
* Complete syndactyly of the fingers on the right (except the thumb)[6]
* Bowed tibia[6]
* Absence of fibula[6]
* Absence of fifth toe and club-foot bilaterally[6]
Furthermore, a pathological examination and X-ray was performed and the following physical features were noticed:
* Flat face[6]
* Large ears with a prominent helix[6]
* Fused eyelids (Ankyloblepharon)[6]
* Oligosyndactyly of the right hand[6]
* Absence of left fibula[6]
* Bowed tibia on the left[6]
X-rays were performed on the parents hands, legs and feet and revealed normal results.[6]
Case IV (J. Huber, J.B. Volpon and E.S. Ramos, 2003)
An 8-month old boy was assessed and identified to have Fuhrmann syndrome[12] However, no genetic analysis was performed to reveal any mutations on WNT7A gene so it is assumed that this is another case of Hecht Scott syndrome.[11] The parents were unrelated.[12] Physical analysis revealed:
* Polydactyly of both hands[12]
* The left leg was bowed[12]
* Clubbing of the feet with two toes on the right foot and three toes on the left foot[12]
Radiographs of the boy revealed:
* Polydactyly of both hands[12]
* Dislocation of hip[12]
* Bilateral aplasia of the fibulae[12]
* Broad, short and bowed left tibia[12]
* Two toes, with two phalanges and two metatarsals, on right foot[12]
* Three metatarsals, two triphalangeal toes and one toe with two phalanges on the right foot[12]
* Tarsal bones absent in both feet[12]
Case V (J. Huber, J.B. Volpon and E.S. Ramos, 2003)
A 20 day old boy was assessed and was identified to have Fuhrmann syndrome.[12] However, no genetic analysis was performed to reveal any mutations on WNT7A gene so it is assumed that this is another case of Hecht Scott syndrome.[11] His mother had previously had a miscarriage.[12] The parents were unrelated.[12] Physical examiantion of the child revealed:
* Retrognathia and a crease in the ear lobules[12]
* Four fingers on right hand[12]
* Both legs were bowed[12]
* Both feet had four toes[12]
Radiographs demonstrated:
* Absence of the fifth finger and metacarpals[12]
* Aplasia of fibula and bowed tibiae on both legs[12]
* Abnormal calcaneus in the feet[12]
* No fifth toes or fifth metatarsals[12]
Both patients, at their followup appointment, showed normal development and growth.[12] A chromosome analysis was performed and revealed normal results.[12] There no cardiac anomalies.[12]
Case VI (Winnie Courtens, Ann Jespers, Inge Harrewijn, Dirk Puylaert and Filip Vanhoenacker, 2005)
The infant was born to Moroccan parents (mother aged 24 and father aged 42) and unrelated.[2] They had two children before this infant and were both in good health.[2] Physical examination revealed:
* Left hand with complete syndactyly[2]
* Right foot with absence of fifth ray and abnormal plantar creases[2]
* Anterior bowing of the right lower limb[2]
* Absence of right fibula, right fifth metatarsal and phalanges, anterior bowing and shortness of right tibia[2]
Other investigations appeared to reveal normal results.[2]
Case VII (Taichi Kitaoka, Noriyuki Namba, Ji Yoo Kim, Takuo Kubota, Kohji Miura, Yoko Miyoshi, Haruhiko Hirai, Mikihiko Kogo, and Keiichi Ozono, 2009)
A boy was born to unrelated, healthy father (aged 33) and mother (aged 32).[11] Physical examination at birth revealed:
* Left-sided cleft lip and cleft palate[11]
* Oligosyndactyly of right hand and bilateral feet[11]
* Bilateral anterior bowing of the limbs[11]
Radiographs showed:
* Angulated tibia with left fibular aplasia[11]
* Three metacarpal bones on right hand[11]
* Third distal phalange fused with fourth[11]
* A single toe was missing from both feet[11]
Surgery was performed to repaired the boy's cleft lip when he was 3 months old.[11] A follow-up visit at 10 months showed the boy to develop normally for his age.[11]
Case VIII (A. Karaman and H. Kahveci, 2010)
A male was born to unrelated parents aged 29 (father) and 25 (mother).[8] On the day of birth, physical examination revealed:
* Oligosyndactyly of the left foot[8]
* A short and angulated left leg[8]
Radiographs revealed a short angulated tibia with fibular aplasia of the left leg.[8] The left foot had only three metatarsal bones.[8] Further examination also showed no abnormality of organs and no mutations in the WNT7A gene.[8]
Case IX (Navendu Goyal, Randeep Kaur, Manu Gupta, Shiraz Bhatty and Rajesh Paul, 2014)
A 2 year old boy, born to healthy, presented with physical deformities:
* Right foot with oligosyndactyly[13]
* Right lower limb was shorter than the left[13]
* Right foot was shorter than the left foot[13]
* No ankle, knee or hip[13]
There was no physical deformities in the upper limbs or other parts of the body[13] Radiographs showed hypoplastic fibula with hypoplasia of talus.[13]
Case X (Gitte Smet, Yoeri Vankan and Annick Demeyere, 2016)
A female newborn, with no family history and healthy parents, presented with Hecht Scott syndrome.[14] Physical examination revealed:
* Three toes on the left foot[14]
* Four toes on the right foot[14]
* Shortening and bowing of the left lower limb of the tibia[14]
There was no abnormality in the upper limbs and no facial dysmorphism.[14] Hypoplasia of the left fibula was revealed by a radiographic examination.[14] The radiograph also revealed the absence of two left rays and one ray on the right foot.[14]
Case XI (Josko Petricevic, Ante Curic, Ivana Karaman, Gea Forempoher and Marija Definis-Gojanović, 2017)
A male baby was born prematurely due to fetal distress.[1] Physical examination revealed:
* A deformed tibia[1]
* Olygodactyly of both feet[1]
* Syndactyly of the right hand[1]
* Both fibulas were absent[1]
A DNA analysis was conducted and no mutation was revealed on the WNT7A gene.[1] Six days after birth, the baby died.[1]
## References[edit]
1. ^ a b c d e f g h i j k Petricevic, Josko; Curic, Ante; Karaman, Ivana; Forempoher, Gea; Definis-Gojanović, Marija (2017). "First Case of Bilateral Fibular Aplasia, Tibial Campomelia and Oligodactyly Syndrome (FATCO Syndrome)". Clinical Studies & Medical Case Reports. 4 (3): 1–3. doi:10.24966/CSMC-8801/100046.
2. ^ a b c d e f g h i j k l Courtens, Winnie (2005). "Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly in a Male Newborn Infant: A Case Report and Review of the Literature". American Journal of Medical Genetics. 134A (3): 321–325. doi:10.1002/ajmg.a.30441. PMID 15754355.
3. ^ "Orphanet: FATCO syndrome". www.orpha.net. Retrieved 2020-01-30.
4. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab Hecht, Jacqueline T.; Scott, Jr, Charles I. (1981). "Limb deficiency syndrome in half-sibs". Clinical Genetics. 20 (6): 432–437. doi:10.1111/j.1399-0004.1981.tb01054.x. PMID 7337959.
5. ^ a b c d e f g h i Ahmad, Khurshid; Malla, Hilal Ahmad; Dawood, Sheikh. "FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study". Ortopedia Traumatologia Rehabilitacja. 19: 75–78.
6. ^ a b c d e f g h i j k l m n o Capece, G.; Fasolino, A.; Monica, M. Della; Lonardo, F.; Scarano, G.; Neri, G. (1994). "Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation". Prenatal Diagnosis. 14 (6): 502–505. doi:10.1002/pd.1970140616. ISSN 0197-3851. PMID 7937589.
7. ^ a b "WNT7A gene". Genetics Home Reference. Retrieved 2020-02-06.
8. ^ a b c d e f g h i Karaman, A; Kahveci, H (2010). "A Male Newborn Infant with FATCO Syndrome (Fibular Aplasia, Tibial Campomelia and Oligodactyly): A Case Report". Genetic Counseling. 21 (3): 285–288.
9. ^ Evans, Jane A.; Reed, Martin H.; Greenberg, Cheryl H. (2002). "Fibular aplasia with ectrodactyly". American Journal of Medical Genetics. 113 (1): 52–58. doi:10.1002/ajmg.10754. PMID 12400066.
10. ^ a b El-Beheiry, Ahmed; Abdalla, Ebtesam (2017-01-02). "Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant". Journal of Pediatric Genetics. 06 (2): 118–121. doi:10.1055/s-0036-1597931. ISSN 2146-4596. PMC 5423804. PMID 28497002.
11. ^ a b c d e f g h i j k l m Kitaoka, Taichi; Namba, Noriyuki; Kim, Ji Yoo; Kubota, Takuo; Miura, Kohji; Miyoshi, Yoko; Hirai, Haruhiko; Kogo, Mikihiko; Ozono, Keiichi (2009). "A Japanese Male Patient with 'Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report". Clinical Pediatric Endocrinology. 18 (3): 81–86. doi:10.1297/cpe.18.81. ISSN 0918-5739. PMID 23926365.
12. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z Huber, J.; Volpon, J.B.; Ramos, E.S. (2003). "Fuhrmann syndrome: two Brazilian cases". Clinical Dysmorphology. 12 (2): 85–88. doi:10.1097/00019605-200304000-00002. ISSN 0962-8827. PMID 12868468.
13. ^ a b c d e f Goyal, Navendu; Kaur, Randeep; Gupta, Manu; Bhatty, Shiraz; Paul, Rajesh (2014). "FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly –– A Case Report". Journal of Clinical and Diagnostic Research. 8: 1–2. PMID 25386471.
14. ^ a b c d e f g Smets, Gitte; Vankan, Yoeri; Demeyere, Annick (2016). "A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report". Journal of the Belgian Society of Radiology. 100 (1): 1–4.
* v
* t
* e
Hecht Scott syndrome
History
* Autosomal dominant
Gonadal mosaicism Aplasia
Symptoms
* Syndactyly
Genetics
* Diseases
Mutations Dominance
Treatment
* Orthotics
Distraction osteogenesis Amputation prosthesis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hecht Scott syndrome | c2931047 | 28,863 | wikipedia | https://en.wikipedia.org/wiki/Hecht_Scott_syndrome | 2021-01-18T18:36:07 | {"gard": ["2622"], "mesh": ["C535856"], "umls": ["C2931047"], "orphanet": ["2492"], "wikidata": ["Q17254905"]} |
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hepatic fibrosis-renal cysts-intellectual disability syndrome | c2931226 | 28,864 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2031 | 2021-01-23T18:08:40 | {"gard": ["5177"], "mesh": ["C536515"], "omim": ["213010"], "umls": ["C2931226"], "synonyms": ["Thompson-Baraitser syndrome"]} |
Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk.
## Epidemiology
Less than ten cases have been reported to date.
## Clinical description
Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent.
## Etiology
The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.
## Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Centripetalis recessive dystrophic epidermolysis bullosa | c4511056 | 28,865 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89841 | 2021-01-23T18:22:17 | {"icd-10": ["Q81.2"], "synonyms": ["Centripetal dystrophic epidermolysis bullosa", "Centripetal recessive dystrophic epidermolysis bullosa", "RDEB, centripetalis", "RDEB-Ce"]} |
Pineal gland
Diagram of the pineal gland in the human brain. The pineal gland is where the Papillary Tumor is located.
Anatomical terminology
[edit on Wikidata]
Papillary tumors of the pineal region (PTPR) were first described by A. Jouvet et al. in 2003 [1] and were introduced in the World Health Organization (WHO) classification of Central Nervous System (CNS) in 2007.[2] Papillary Tumors of the Pineal Region are located on the pineal gland which is located in the center of the brain. The pineal gland is located on roof of the diencephalon. It is a cone shaped structure dorsal to the midbrain tectum.[3] The tumor appears to be derived from the specialized ependymal cells of the subcommissural organ.[1][4][5] Papillary tumors of the central nervous system and particularly of the pineal region are very rare and so diagnosing them is extremely difficult.[6]
## Contents
* 1 Symptoms and signs
* 2 Pathology
* 3 Histological and immunohistochemical features
* 4 Diagnosis
* 4.1 Grading
* 4.2 Grade II
* 4.3 Grade III
* 5 Epidemiology
* 6 Current research
* 7 See also
* 8 References
## Symptoms and signs[edit]
The most common symptom of the papillary tumor is a headache.[5][6][7] Because headaches are so common, most people think nothing of it. This is why brain tumors are so dangerous. There are not a lot of symptoms that go along with them so people tend to wait a long time before seeking medical help. Most of the time people will go see a doctor when their headaches become consistent and start to never go away. This symptom however occurs secondary to hydrocephalus, which is a result from compression of the cerebral aqueduct. The cerebral aqueduct is a narrow channel in the midbrain, which connects the third and fourth ventricles. When a tumor blocks the pathway of the cerebrospinal fluid, this will cause headaches in the patient.[8] Often when hydrocephalus occurs, a shunt is put in place in order to alleviate the pressure.[9] In one case study, an endoscopic third ventriculostomy was performed as a first line procedure to treat the hydrocephalus and also for diagnostic purposes.[4]
In some cases, patients have had progressive diplopia, or double vision.[8][10] Also, although not in all cases, patients sometimes suffer from nausea and vomiting.[5][9]
## Pathology[edit]
Pineal tumor
Pineal region tumors are normally composed of a variety of cells including astrocytes, ganglion cells, blood vessels, and pinealocytes, which are the cells of this organ. Pinealocytes are specialized neurons, which are rich in monoaminergic neurotransmitters, including, serotonin, norepinephrine, and melatonin.[3] Specifically, papillary tumors of this region are made up of ependymal cells which form papilla. The papilla is meant to be surface cells. The ependymal cells line the inside of the ventricles of the brain. These cells have proteins that make up the characteristics of the tumor. These proteins arise from blood vessels, nerve cells and muscle cells.[11]
These tumors, papillary tumors in this case, have no known predisposing genetic characteristics, as stated by Dr. Janss when I interviewed her. She said that there is nothing that links the likelihood of getting this tumor type to genetics, meaning nothing is inherited. However, technically speaking, there is genetics involved, just not in the sense of inheritability. The tumor cells may differ in their structure and function, but they all have normal function, which is directed by the deoxyribonucleic acid, or DNA. There are meant to be certain cells in a specific area, for the pineal region these are ependymal cells, and the cells divide into millions. As these cells divide, their genetic material is being copied. In a tumor, there is a collection of mutations that are typos in the genetic material, which disrupts the function of the normal cell. Therefore, the cells differentiate from what they were meant to be. If the abnormal cells continue to grow, divide, and produce more abnormal cells, the mass of abnormal cells may eventually become a tumor.[11][12]
Papillary tumors of the pineal region are normally well circumscribed. They are reported to be fairly large ranging between 2.5 and 4.0 centimeters. These tumors sometimes feature a cystic component.[13]
## Histological and immunohistochemical features[edit]
The critical diagnosis of this neoplasm is often difficult because of its similarity with other primary or secondary papillary lesions of the pineal region, including parenchymal pineal tumors, papillary ependymoma, papillary meningioma, choroid plexus papilloma, and metastatic papillary carcinoma.[13]
Papillary tumors characteristically show a discrete, compressive border with adjacent pineal gland and brain parenchyma. The nuclei tend to be regular, round-to-oval and contain stippled chromatin. The cytoplasmic and often nuclear expression of S100 protein is present in nearly all tumor cells, and vimentin typically stains tumor cell cytoplasm adjacent to vessel walls.[13] The cells of this tumor usually show a columnar to cuboidal cytoplasm with a well-defined cytoplasmic membrane. Vacuolated, or clear cells are common.[3] Necrosis or cell death is normally observed to some extent in most of these tumors cells.[4][13]
These tumors were tested immunohistochemically with a profile similar to that of a choroid plexus tumor; however, morphologically the tumors appeared to be less differentiated than a choroid plexus papilloma and more differentiated than a choroid plexus carcinoma.[10]
There is normally cytoplasmic staining for a number of cytokeratins and the immunohistochemical profile for the papillary tumors are as follows:
AE1/AE3 (pan-cytokeratin) → \-
CK8/18 (cytokeratin 8/18) → +++
EMA (epithelial membrane antigen) → \-
GFAP (glial fibrillary acidic protein) → \+
Synaptophysin → \-
Chromogranin → \-
NSE (neuron-specific enolase) → ++
NFP (neurofilament protein) → \-
CD56/N-CAM (neural cell adhesion molecule) → ++
S100 → ++
Transthyretin → \-
Vimentin → +++
Desmin → \-
SMA (smooth muscle actin) → \+
The intensity of immunoreactivity was scored as follows: - (absent), + (weak/focal), ++ (moderate), and +++ (strong).[9]
## Diagnosis[edit]
### Grading[edit]
MRI of a papillary tumor of the pineal region in an 18-year-old boy. Sagittal T1+Gd.
Papillary tumor of the pineal region (PTPR) is a recently described neoplasm that has been formally recognized in the 2007 World Health Organization (WHO) “Classification of Tumors of the Nervous System.” [6]
Because these tumors are so rare, at first there was really no way to grade these tumors. Once they were biopsied, they were defined as either malignant, meaning cancerous, or benign, meaning cancer free. After seeing more and more cases of this tumor, they are now determined to be either Grade II or Grade III, according to the WHO classification.[3] The mitotic activity varies for these tumors, ranging from 0 to 10 mitoses per 10 high power (x40) fields.[13]
### Grade II[edit]
Grade II tumors are relatively slow growing. They have a slightly abnormal microscopic appearance and can spread into nearby normal tissue. Grade II tumors can also recur as a higher-grade tumor.[14]
### Grade III[edit]
Grade III tumors are malignant. In these types of tumors the cells are actively reproducing abnormal cells. The cells of the tumor will often grow into nearby normal brain tissue. Grade III tumors tend to recur as higher-grade tumors.[14]
## Epidemiology[edit]
Papillary tumors of pineal region are extremely rare, constituting 0.4-1% of all central nervous system tumors.[3] These tumors most commonly occur in adults with the mean age being 31.5. There have been cases reported for people between the ages 5 to 66 years. There is a slight predominance of females who have these tumors.[13][9]
## Current research[edit]
Because of the rarity of these tumors, there is still a lot of unknown information. There are many case studies that have been reported on patients who have been diagnosed with this specific type of tumor. Most of the above information comes from the findings resulting from case studies.
Since Papillary Tumors of the Pineal Region were first described in 2003, there have been seventy cases published in the English literature.[9] Since there is such a small number of cases that have been reported, the treatment guidelines have not been established. A larger number of cases that contain a longer clinical follow-up are needed to optimize the management of patients with this rare disease.[5]
Even though there is a general consensus on the morphology and the immunohistochemical characteristics that is required for the diagnosis, the histological grading criteria have yet to be fully defined and its biological behavior appears to be variable.[9] This specific type of tumor appears to have a high potential for local recurrence with a high tumor bed recurrence rate during the five years after the initial surgery. This suggests the need for a tumor bed boost radiotherapy after surgical resection.[4]
As stated above, the specific treatment guidelines have not yet been established, however, gross total resection of the tumor has been the only clinical factor associated overall and progression-free survival.[9] The value of radiotherapy as well as chemotherapy on disease progression will need to be investigated in future trials. With this information, it will provide important insight into long-term management and may further our understanding of the histologic features of this tumor.[8]
## See also[edit]
* Pineal gland
## References[edit]
1. ^ a b Jouvet A et al.,(2003), Papillary tumor of the pineal region. American Journal of Surgical Pathology, 27(4), 505-512.
2. ^ Jouvet A, Nakazato Y, Scheithauer BW, Paulus W,(2007). Papillary tumor of the pineal region. WHO classification of tumours of the central nervous system, chapter 7, Eds: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, IARC, Lyon, France 128-129.
3. ^ a b c d e Jorg-Christian Tonn, M. W., J.T. Rutka. (2010). Oncology of CNS Tumors (2 ed.): Springer-Verlag Berlin Heidelberg.
4. ^ a b c d Kevin Buffenoir, P. R., Michel Wager, Sarah Ferrand, Alix Coulon, Jean Luc Blanc, Benoit Bataille, Antoine Listrat. (2008). Papillary Tumor of the Pineal Region in a Child: Case Report and Review of the Literature. Childs Nervous System, 24, 379-384.
5. ^ a b c d M. Kern, P. R., G. Lee, P. Watson. (2006). Papillary tumor of the pineal region- a new pathological entity. Clinical Neuropathology, 25(4), 185-192.
6. ^ a b c Chang AH, F. G., Debnam JM, Karis JP, Coons SW, Ross JS, Dean BL. (Jan. 2008). MR imaging of papillary tumor of the pineal region. Division of Neuroradiology, 29(1), 187-189.
7. ^ Takashi Sato, P. K., John Buatti, Toshio Moritani. (2009). Papillary tumor of the pineal region: report of a rapidly progressive tumor with possible multicentric origin. Pediatric Radiology(39), 188-190.
8. ^ a b c Tibor Boco, S. A., Michael Musacchio, Richard Byrne, Elizabeth Cochran. (2008). Papillary tumor of the pineal region. Neuropathology, 28, 87-92.
9. ^ a b c d e f g Katherine Poulgrain, R. G., Craig Winter, Benjamin Ong, Queenie Lau. (2011). Papillary tumor of the pineal region. Journal of Clinical Neuroscience, 18(8), 1007-1017.
10. ^ a b Cardenas R, J. V., Haydel J, Wadhwa R, Fowler M, Scheithauer B, Nanda A. (May 2010). Papillary tumor of pineal region: prolonged control rate after gamma knife radiosurgery - a case report and review of literature. Neurology India, 58(3), 471-476.
11. ^ a b Janss, Anna. Personal Interview. 24 Oct. 2011.
12. ^ Virginia Stark-Vance, M. L. D. (2011). 100 Questions and Answers About Brain Tumors (2 ed.): Jones and Bartlett Publishers.
13. ^ a b c d e f Federico Roncaroli, B. S. (2007). Papillary Tumor of the Pineal Region and Spindle Cell Oncocytoma of the Pituitary: New Tumor Entities in the 2007 WHO Classification. Brain Pathology, 17, 314-318.
14. ^ a b Anthony Asher, P. B., David Croteau, Jillann Demes, Tom Mikkelsen, Teresa Omert, Nina Paleologos, Jill Barnholtz-Sloan (2004). A Primer of Brain Tumors (2nd ed.). Des Plaines: American Brain Tumor Association.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Papillary tumors of the pineal region | c2985219 | 28,866 | wikipedia | https://en.wikipedia.org/wiki/Papillary_tumors_of_the_pineal_region | 2021-01-18T18:52:26 | {"umls": ["C2985219"], "orphanet": ["251915"], "wikidata": ["Q2050795"]} |
A number sign (#) is used with this entry because of evidence that photosensitive trichothiodystrophy-1 (TTD1) is caused by homozygous or compound heterozygous mutation in the ERCC2/XPD gene (126340), which encodes a helicase subunit of transcription/repair factor TFIIH, on chromosome 19q13.
Description
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
### Genetic Heterogeneity of Trichothiodystrophy
Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); TTD6 (616943), caused by mutation in the GTF2E2 gene (189964); and TTD7 (618546), caused by mutation in the TARS gene (187790).
Clinical Features
In 2 brothers and a sister, with first-cousin parents of Chinese extraction, Tay (1971) described a 'new' autosomal recessive disorder characterized by nonbullous ichthyosiform erythroderma, growth and mental retardation, somewhat progeria-like appearance, and short, sparse, lusterless hair that microscopically showed pili torti and trichorrhexis nodosa. One of the children had hypogammaglobulinemia, and one died at age 2 months of intestinal obstruction. Erythroderma was particularly striking at birth.
Price et al. (1980) introduced the term trichothiodystrophy for sulfur-deficient brittle hair. They noted that trichothiodystrophy was a marker for neuroectodermal symptoms of brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of TTD patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect.
King et al. (1984) described 2 cases of what they called trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt in unrelated children. The first, a boy, was born with short, woolly hair that fell out easily. At 6 months he was first seen for developmental delay. The length, weight, and head circumference were below the 3rd centile. The face was unusual with receding chin and protruding ears. The skin was ichthyotic with severe flexural eczema. The hairs of the eyebrows were stubby, but the eyelashes were normal. The nails were hypoplastic and spoon-shaped. Neurologic findings included jerky ocular pursuit movements with titubation of the head, spastic diplegia, extensor plantar reflexes, and absent deep tendon reflexes. The findings were virtually identical at age 4. In addition, the skin was highly photosensitive. The findings in the second case, in a female child, were nearly identical except that bilateral central nuclear cataracts, hyperactive deep tendon reflexes, adductor spasm, and scissoring of the lower limbs were noted. Both children were the offspring of unrelated Scottish parents. King et al. (1984) suggested that this disorder is the same as the Amish brittle hair syndrome (234050) and the Sabinas brittle hair syndrome (211390).
Happle et al. (1984) reported a patient with congenital ichthyosis with trichothiodystrophy (Tay syndrome) and reviewed 12 previously reported patients. Dysplastic nails are frequently observed. As in autosomal dominant ichthyosis vulgaris, flexural areas of the limbs may be spared. Lack of subcutaneous fatty tissue is characteristic. In women, breast tissue may be completely absent in spite of normal development of the nipples. The face has an aged appearance due to lack of subcutaneous fat. Low birth weight and short stature (below 3rd centile at all ages) are features and all patients have mental retardation.
Braun-Falco et al. (1981) reported an affected brother and sister.
Nuzzo et al. (1986) reported inbred Italian kindreds in which TTD and xeroderma pigmentosum of complement group D (278730) were found to be cosegregating, suggesting linkage of the 2 disorders. TTD features in the patients included hair shaft abnormalities, ichthyosis, immature sexual development, short stature, and peculiar facies. Nuzzo et al. (1990) checked consanguinity within and among 3 families by construction of genealogic trees, typing of blood markers, and a surname analysis. The results strengthened the hypothesis that in at least 2 of the 3 families, the genetic defects represented by the combined phenotype were of the same origin, as a consequence of remote inbreeding.
In the son of a Finnish uncle-niece marriage, Blomquist et al. (1991) observed Tay or IBIDS syndrome, which was manifested by growth and mental retardation, congenital ichthyosis, and brittle hair. The boy suffered from recurrent infections and died at the age of 3 years from pneumonia. The authors also reviewed 15 cases from the literature. A birth weight less than 2,500 grams was found in 8 of 11 cases, birth length less than 40 cm in 3 of 6, hypogonadism in 9 of 9, cataract in 7 of 8, frequent infections in 7 of 7, and microcephaly in 6 of 6; all of these features were also present in their patient.
Kleijer et al. (1994) described a female child with what Crovato et al. (1983) and Rebora and Crovato (1988) referred to as the PIBI(D)S syndrome with trichothiodystrophy. She had photosensitivity, ichthyosis, brittle hair, impaired intelligence, possibly decreased fertility, and short stature. A remarkable feature was the intermittent character of the scalp hair loss during infectious periods, such as with pneumonia. The child died unexpectedly at home during sleep at the age of 2 years and 8 months. Easy suntanning suggested photosensitivity and prompted DNA repair studies, which demonstrated reduced UV-induced DNA repair synthesis.
Takayama et al. (1997) studied a male patient with typical features of trichothiodystrophy, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of nucleotide excision repair carried out by a fibroblast cell strain from the patient after ultraviolet exposure was approximately 65% of normal as determined by a method that converted repair patches into quantifiable DNA breaks. UV survival curves showed a reduction in survival only at doses greater than 4 joules per square meter.
Peter et al. (1998) described a 4-year-old girl with trichothiodystrophy without associated neuroectodermal defects.
Viprakasit et al. (2001) showed that the specific mutations in the ERCC2 gene that cause TTD result in reduced expression of the beta-globin (HBB; 141900) gene in affected individuals. Eleven TTD patients with characterized mutations in the XPD gene were found to have the hematologic features of beta-thalassemia trait as well as reduced levels of beta-globin synthesis and beta-globin mRNA. All of these parameters were normal in 3 patients with XPD (278730). The authors hypothesized that many of the clinical features of TTD may result from inadequate expression of a diverse set of highly expressed genes.
Faghri et al. (2008) performed a systematic literature review and identified 112 patients with trichothiodystrophy, ranging in age from 12 weeks to 47 years. In addition to hair abnormalities, common reported features were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%; primarily cataract), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%), and defective DNA repair (37%). There were 19 deaths under the age of 10 years (13 related to infection), a 20-fold higher mortality rate than that of the general US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections, and high mortality at a young age. Faghri et al. (2008) noted that abnormal characteristics at birth and pregnancy complications were unrecognized but common features of TTD, suggesting a role for DNA repair genes in normal fetal development.
Hashimoto and Egly (2009) reviewed the clinical features and genetics of TTD, as well as the pathogenesis of nucleotide excision repair defects.
Brooks et al. (2011) reported the ocular manifestations of the largest cohort to that time of patients with photosensitive or nonphotosensitive trichothiodystrophy or with TTD and xeroderma pigmentosum (XP/TTD; see 278730). Their case series included 32 participants, aged 1 to 30 years, seen over a 10-year period: 25 had TTD and 7 had XP/TTD. Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), nystagmus (40% TTD), and infantile cataract (56% TTD, 86% XP/TTD). Corrective lenses were required by 65% of the participants, and decreased best-corrected visual acuity was present in 28% of TTD patients and 71% of XP/TTD patients. Degenerative changes included dry eye (32% TTD, 57% XP/TTD) and ocular surface disease identified by ocular surface staining with fluorescein (32% TTD) that was usually exhibited by much older patients in the general population. The 2 oldest TTD patients exhibited clinical signs of retinal/macular degeneration. Four XP/TTD patients presented with corneal neovascularization. Brooks et al. (2011) concluded that, although many of these ocular manifestations could be ascribed to abnormal development, likely due to abnormalities in basal transcription of critical genes, patients with TTD or XP/TTD might also have a degenerative course.
Pathogenesis
Orioli et al. (2013) found that skin of TTD patients with mutations in the ERCC2 gene had reduced content of COL6A1 (120220), an abundant collagen of skin and connective tissue. In culture, dermal fibroblasts from TTD patients failed to induce COL6A1 upon achieving confluence. XPD skin and cultured XPD fibroblasts with mutations in the ERCC2 gene did not show the same defects. Transfection of wildtype ERCC2 into TTD patient fibroblasts permitted induction of COL6A1 upon confluence. In silico analysis identified a putative SREBP1 (184756)-binding site in the COL6A1 promoter, and deletion of this site resulted in increased transcriptional activity from the COL6A1 promoter. Overexpression of wildtype ERCC2 in TTD patient fibroblasts resulted in RNA polymerase II and SP1 (189906) occupancy at the COL6A1 promoter, concomitant with loss of SREBP1 binding. Removal of SREBP1 from the COL6A1 promoter was also dependent on ATP hydrolysis. Orioli et al. (2013) concluded that ERCC2 in the TFIIH helicase removes SREBP1 from the COL6A1 promoter in an ATP-dependent manner and that, in TTD fibroblasts, mutated ERCC2 fails to displace the SREBP1 repressor from the COL6A1 promoter, resulting in inability to effect COL6A1 transcriptional upregulation in response to cell confluence.
Molecular Genetics
By sequence analysis of the ERCC2 gene in a patient with trichothiodystrophy, Takayama et al. (1997) identified compound heterozygous mutations: a leu461-to-val (L461V; 126340.0001) substitution and a deletion of amino acids 716-730 on one allele and an ala725-to-pro (A725P; 126340.0003) substitution on the other allele. The L461V mutation had been reported in a patient with xeroderma pigmentosum group D by Frederick et al. (1994) and in 2 other patients with trichothiodystrophy (see Takayama et al., 1996), whereas the A725P mutation had not previously been reported.
Botta et al. (1998) determined the mutations and the pattern of inheritance of the XPD alleles in 11 cases of trichothiodystrophy identified in Italy. In all of the cases, the hair abnormalities diagnostic for TTD were associated with different disease severity but similar cellular photosensitivity. The authors identified 8 causative mutations, 4 of which had not previously been described, either in TTD or XP cases, supporting their hypothesis that the mutations responsible for TTD are different from those found in other pathologic phenotypes. The arg112-to-his (R112H; 126340.0006) mutation was the most common one found in the Italian patients, 5 of whom 5 were homozygous and 2 heterozygous, for this mutation. Microscopic study of the hair showed pili torti, trichoschisis, and trichorrhexis nodosa. Polarization microscopy revealed a typical appearance of alternating light and dark bands, giving a 'tiger tail' pattern. Photosensitivity was reported in all patients, in association with the other symptoms typical of TTD, namely, ichthyosis, delayed physical and mental development, nail dysplasia, a face characterized by receding chin, small nose, and large ears, and microcephaly. Seven patients were still alive at ages 4 to 30 years; the 4 patients who died during early infancy showed severe physical and mental retardation and suffered from frequent respiratory infections. The 3 oldest patients, all women, aged 30, 20, and 21 years, had moderate mental and physical handicaps. They developed freckles during childhood, but progression to malignancy had not been observed. They had short stature (140 cm), began to menstruate at age 18 years, and were no longer prone to infections, although they suffered moderate infections during early childhood.
Vermeulen et al. (2001) showed that an arg658-to-cys (R658C) mutation in the XPD component of the TFIIH transcription factor was responsible for thermolability of that factor and underlay the temperature-sensitive clinical disorder; see 126340.0007.
Broughton et al. (2001) identified 2 patients with some features of both XP and TTD. A 3-year-old girl with sun sensitivity and mental and physical developmental delay had compound heterozygous mutations in the ERCC2 gene (126340.0011-126340.0012). Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; 126340.0006) seen previously in TTD patients, and a leu485-to-pro mutation (L485P; 126340.0013) on the other allele. The level of UV damage repair in the second patient was substantially higher than that in other patients with the same mutation. With both patients, polarized light microscopy revealed a tiger-tail appearance of the hair, and amino acid analysis of the hairshafts showed levels of sulfur-containing proteins between those of normal and TTD individuals.
Animal Model
De Boer et al. (2002) found that mice with the arg722-to-trp (R722W; 126340.0014) mutation in ERCC2 had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. TTD mice carrying an additional mutation in XPA (611153), which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. De Boer et al. (2002) hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low birth weight Other \- Growth retardation HEAD & NECK Head \- Microcephaly (<3rd centile) Face \- Unusual face \- Receding chin Ears \- Recurrent otitis (in some patients) \- Protruding ears (in some patients) Eyes \- Cataract \- Microcornea (in some patients) \- Microphthalmia (rare) \- Nystagmus \- Strabismus \- Photophobia \- Infantile cataract (in some patients) \- Bilateral cataract (in some patients) \- Decreased best corrected visual acuity \- Dry eye syndrome (in some patients) \- Ocular surface fluorescein staining (in some patients) \- Early onset of age-related macular degeneration (rare) Nose \- Small, thin nose Mouth \- Small, triangular mouth Teeth \- Dystrophic teeth ABDOMEN Gastrointestinal \- Chronic diarrhea \- Malabsorption SKIN, NAILS, & HAIR Skin \- Ichthyosis \- Ichthyotic skin \- Nonbullous ichthyosiform erythroderma \- Dry skin \- Flaky skin \- Collodion baby \- Photosensitivity, severe \- Sunburn after short exposure to sun \- Telangiectasia of photoexposed areas \- Erythroderma \- Freckling \- Hyperkeratosis on soles of feet Nails \- Brittle nails \- Dystrophic nails \- Hypoplastic nails Hair \- Thin hair \- Sparse hair \- Brittle hair \- Trichoschisis \- Trichorrhexis nodosa \- Pili annulati ('tiger-tail' hair) \- Flattened hair shaft \- Reduced cysteine/cystine and sulfur content \- Abnormal distribution of sulfur-rich proteins in the cortex and hair cuticle NEUROLOGIC Central Nervous System \- Mental retardation (IQ 45-58) \- Poor gross and fine motor coordination \- Speech delay \- Diffuse signal hyperintensity of white matter seen on MRI IMMUNOLOGY \- Recurrent infections (enteritis, otitis, and urinary infection) NEOPLASIA \- Squamous cell carcinoma \- Basal cell carcinoma MISCELLANEOUS \- Skin neoplasia may appear later in life MOLECULAR BASIS \- Caused by mutation in the excision repair, complementing defective, in Chinese hamster, 2 gene (ERCC2, 126340.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE | c0432267 | 28,867 | omim | https://www.omim.org/entry/601675 | 2019-09-22T16:14:27 | {"doid": ["2960"], "mesh": ["D054463"], "omim": ["601675"], "orphanet": ["453", "670", "33364"], "synonyms": ["Alternative titles", "TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION", "TAY SYNDROME", "TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS", "PIBIDS SYNDROME"]} |
Ovarian fibroma
Low magnification micrograph of a calcified ovarian fibroma in the context of nevoid basal cell carcinoma syndrome. H&E stain.
SpecialtyGynecology
Ovarian fibroma (white part on the left)
The ovarian fibroma, also fibroma, is a benign sex cord-stromal tumour.
Ovarian fibromas represent 4% of all ovarian neoplasms.[1] They tend to occur mostly during perimenopause and postmenopause, the median age having been reported to be about 52 years, and they are rare in children.[1] Lesions tend to be asymptomatic. If symptoms are present, the most common one is abdominal pain.[1]
On gross pathology, they are firm and white or tan. On microscopic examination, there are intersecting bundles of spindle cells producing collagen.
There may be thecomatous areas (fibrothecoma). The presence of an ovarian fibroma can cause ovarian torsion in some cases.
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 Associations
* 4 References
* 5 External links
## Diagnosis[edit]
ovrian fibroma in ultrasound
Ovarian tumors by incidence and risk of ovarian cancer, with fibroma at right.[2]
Diagnosis is usually made by ultrasonography showing a solid ovarian lesion, or, on some occasions, mixed tumors with solid and cystic components.[1] Computed tomography and magnetic resonance imaging can also be used to diagnose fibromas. In a series of 16 patients, 5 (28%) showed elevated levels of CA-125.[1] Histopathology demonstrates spindle-shaped fibroblastic cells and abundant collagen.[3]
## Treatment[edit]
Usually the lesion is surgically removed. Primarily, there is concern that the lesion identified in a patient could be cancerous, but there is also the risk of torsion, and possibly the development of symptoms. A stable lesion, however, could be clinically followed.
## Associations[edit]
Variants with edema can be associated with Meigs' syndrome. They may be a part of nevoid basal cell carcinoma syndrome (Gorlin syndrome).[4]
## References[edit]
1. ^ a b c d e Yen, P.; Khong, K.; Lamba, R.; Corwin, M. T.; Gerscovich, E. O. (2013). "Ovarian fibromas and fibrothecomas: Sonographic correlation with computed tomography and magnetic resonance imaging: A 5-year single-institution experience". Journal of ultrasound in medicine. 32 (1): 13–18. PMID 23269706.
2. ^ \- Vaidya, SA; Kc, S; Sharma, P; Vaidya, S (2014). "Spectrum of ovarian tumors in a referral hospital in Nepal". Journal of Pathology of Nepal. 4 (7): 539–543. doi:10.3126/jpn.v4i7.10295. ISSN 2091-0908.
\- Minor adjustment for mature cystic teratomas (0.17 to 2% risk of ovarian cancer): Mandal, Shramana; Badhe, Bhawana A. (2012). "Malignant Transformation in a Mature Teratoma with Metastatic Deposits in the Omentum: A Case Report". Case Reports in Pathology. 2012: 1–3. doi:10.1155/2012/568062. ISSN 2090-6781.
3. ^ Parwate, Nikhil Sadanand; Patel, Shilpa M.; Arora, Ruchi; Gupta, Monisha (2015). "Ovarian Fibroma: A Clinico-pathological Study of 23 Cases with Review of Literature". The Journal of Obstetrics and Gynecology of India. 66 (6): 460–465. doi:10.1007/s13224-015-0717-6. ISSN 0971-9202. PMC 5080219.
4. ^ Tytle, T.; Rosin, D. (Sep 1984). "Bilateral calcified ovarian fibromas". South Med J. 77 (9): 1178–80. doi:10.1097/00007611-198409000-00033. PMID 6385289.
## External links[edit]
Classification
D
* MeSH: C562391 C562391, C562391
* v
* t
* e
Tumors of the female urogenital system
Adnexa
Ovaries
Glandular and epithelial/
surface epithelial-
stromal tumor
CMS:
* Ovarian serous cystadenoma
* Mucinous cystadenoma
* Cystadenocarcinoma
* Papillary serous cystadenocarcinoma
* Krukenberg tumor
* Endometrioid tumor
* Clear-cell ovarian carcinoma
* Brenner tumour
Sex cord–gonadal stromal
* Leydig cell tumour
* Sertoli cell tumour
* Sertoli–Leydig cell tumour
* Thecoma
* Granulosa cell tumour
* Luteoma
* Sex cord tumour with annular tubules
Germ cell
* Dysgerminoma
* Nongerminomatous
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma/Struma ovarii
* Choriocarcinoma
Fibroma
* Meigs' syndrome
Fallopian tube
* Adenomatoid tumor
Uterus
Myometrium
* Uterine fibroids/leiomyoma
* Leiomyosarcoma
* Adenomyoma
Endometrium
* Endometrioid tumor
* Uterine papillary serous carcinoma
* Endometrial intraepithelial neoplasia
* Uterine clear-cell carcinoma
Cervix
* Cervical intraepithelial neoplasia
* Clear-cell carcinoma
* SCC
* Glassy cell carcinoma
* Villoglandular adenocarcinoma
Placenta
* Choriocarcinoma
* Gestational trophoblastic disease
General
* Uterine sarcoma
* Mixed Müllerian tumor
Vagina
* Squamous-cell carcinoma of the vagina
* Botryoid rhabdomyosarcoma
* Clear-cell adenocarcinoma of the vagina
* Vaginal intraepithelial neoplasia
* Vaginal cysts
Vulva
* SCC
* Melanoma
* Papillary hidradenoma
* Extramammary Paget's disease
* Vulvar intraepithelial neoplasia
* Bartholin gland carcinoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ovarian fibroma | c0149951 | 28,868 | wikipedia | https://en.wikipedia.org/wiki/Ovarian_fibroma | 2021-01-18T18:44:39 | {"mesh": ["C562391"], "umls": ["C0149951"], "orphanet": ["314473"], "wikidata": ["Q7113247"]} |
An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
## Epidemiology
It has been reported in only one family, with three affected patients.
## Clinical description
Moderate to severe intellectual deficiency (IQ<50) is seen in all cases as are marked facial characteristics (long narrow face with upslanting palpebral fissures). Spastic diplegia is common. Golabi-Ito-Hall syndrome shows atrial septal defects and severe growth restriction (head circumference and length) but unlike other syndromes in the Renpenning group, small testes are not observed.
## Etiology
It is caused by a missense mutation in the PQBP1 gene on exon 3 that leads to deregulated splicing that alters an amino acid in the gene's WW domain.
## Genetic counseling
Golabi-Ito-Hall syndrome follows an X-linked recessive pattern of inheritance. Genetic testing is possible to identify carrier females and to inform them of the risk of passing on the gene to their offspring.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked intellectual disability, Golabi-Ito-Hall type | None | 28,869 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93947 | 2021-01-23T19:11:37 | {} |
Tonsillitis
A culture-positive case of streptococcal pharyngitis with typical tonsillar exudate in a 16-year-old
Pronunciation
* /ˌtɒnsɪˈlaɪtɪs/ TON-si-LY-tis
SpecialtyInfectious disease
SymptomsSore throat, fever, enlargement of the tonsils, trouble swallowing, large lymph nodes around the neck[1][2]
ComplicationsPeritonsillar abscess[1][3]
Duration~ 1 week[4]
CausesViral infection, bacterial infection[1][5][6]
Diagnostic methodBased on symptoms, throat swab, rapid strep test[1][5]
MedicationParacetamol (acetaminophen), ibuprofen, penicillin[1][5]
Frequency7.5% (in any given 3 months)[7]
Tonsillitis is inflammation of the tonsils in the upper part of the throat.[1][2] Tonsillitis is a type of pharyngitis that typically comes on fast (rapid onset).[1][8] Symptoms may include sore throat, fever, enlargement of the tonsils, trouble swallowing, and large lymph nodes around the neck.[1][2] Complications include peritonsillar abscess.[1][3]
Tonsillitis is most commonly caused by a viral infection and about 5% to 40% of cases are caused by a bacterial infection.[1][5][6] When caused by the bacterium group A streptococcus, it is referred to as strep throat.[9] Rarely bacteria such as Neisseria gonorrhoeae, Corynebacterium diphtheriae, or Haemophilus influenzae may be the cause.[5] Typically the infection is spread between people through the air.[6] A scoring system, such as the Centor score, may help separate possible causes.[1][5] Confirmation may be by a throat swab or rapid strep test.[1][5]
Treatment efforts involve improving symptoms and decreasing complications.[5] Paracetamol (acetaminophen) and ibuprofen may be used to help with pain.[1][5] If strep throat is present the antibiotic penicillin by mouth is generally recommended.[1][5] In those who are allergic to penicillin, cephalosporins or macrolides may be used.[1][5] In children with frequent episodes of tonsillitis, tonsillectomy modestly decreases the risk of future episodes.[10]
About 7.5% of people have a sore throat in any three-month period and 2% of people visit a doctor for tonsillitis each year.[7] It is most common in school-aged children and typically occurs in the colder months of fall and winter.[5][6] The majority of people recover with or without medication.[1][5] In 40% of people, symptoms resolve within three days, and in 80% symptoms resolve within one week, regardless of whether streptococcus is present.[4] Antibiotics decrease symptom duration by approximately 16 hours.[4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 Antibiotics
* 4.2 Pain medication
* 4.3 Corticosteroids
* 4.4 Surgery
* 5 Prognosis
* 6 Epidemiology
* 7 Society and culture
* 8 References
* 8.1 Books cited
## Signs and symptoms[edit]
Illustration comparing normal tonsil anatomy and tonsillitis
Those with tonsillitis usually experience sore throat, painful swallowing, malaise, and fever.[1][11][12] Their tonsils – and often the back of the throat – appear red and swollen, and sometimes give off a white discharge.[1][12][13] Some also have tender swelling of the cervical lymph nodes.[1][12]
Many viral infections that cause tonsillitis will also cause cough, runny nose, hoarse voice, or blistering in the mouth or throat.[14] Infectious mononucleosis can cause the tonsils to swell with red spots or white discharge that may extend to the tongue.[15] This can be accompanied by fever, sore throat, cervical lymph node swelling, and enlargement of the liver and spleen.[15] Bacterial infections that cause tonsillitis can also cause a distinct "scarletiniform" rash, vomiting, and tonsillar spots or discharge.[1][14]
Tonsilloliths occur in up to 10% of the population frequently due to episodes of tonsillitis.[clarification needed][16]
## Causes[edit]
Bacteria or viruses can cause tonsillitis.
Viral infections cause 40 to 60% of cases of tonsillitis.[11] Many viruses can cause inflammation of the tonsils (and the rest of throat) including adenovirus, rhinovirus, coronavirus, influenza virus, parainfluenza virus, coxsackievirus, measles virus, Epstein-Barr virus, cytomegalovirus, respiratory syncytial virus, and herpes simplex virus.[14] Tonsillitis can also be part of the initial reaction to HIV infection.[14] An estimated 1 to 10% of the cases are caused by Epstein-Barr virus.[12]
Tonsillitis can also stem from infection with bacteria, predominantly Group A β-hemolytic streptococci (GABHS), which causes strep throat.[1][11] Bacterial infection of the tonsils usually follows the initial viral infection.[12] When tonsillitis recurs after antibiotic treatment for streptococcus bacteria, it is usually due to the same bacteria as the first time, which suggests that the antibiotic treatment was not fully effective.[1][17] Less common bacterial causes include: Streptococcus pneumoniae, Mycoplasma pneumoniae, Chlamydia pneumoniae, Bordetella pertussis, Fusobacterium sp., Corynebacterium diphtheriae, Treponema pallidum, and Neisseria gonorrhoeae.[18][19][20][21]
Anaerobic bacteria have been implicated in tonsillitis, and a possible role in the acute inflammatory process is supported by several clinical and scientific observations.[22]
Sometimes tonsillitis is caused by an infection of spirochaeta and treponema, which is called Vincent's angina or Plaut-Vincent angina.[non-primary source needed][23]
Within the tonsils, white blood cells of the immune system destroy the viruses or bacteria by producing inflammatory cytokines like phospholipase A2,[non-primary source needed][24] which also lead to fever.[25][26] The infection may also be present in the throat and surrounding areas, causing inflammation of the pharynx.[1][27]
## Diagnosis[edit]
There is no firm distinction between a sore throat that is specifically tonsillitis and a sore throat caused by inflammation in both the tonsils and also nearby tissues.[1][28] An acute sore throat may be diagnosed as tonsillitis, pharyngitis, or tonsillopharyngitis (also called pharyngotonsillitis), depending upon the clinical findings.[1]
Throat swab.
In primary care settings, the Centor criteria are used to determine the likelihood of group A beta-hemolytic streptococcus (GABHS) infection in an acute tonsillitis and the need of antibiotics for tonsillitis treatment.[1][12] However, the Centor criteria have their weaknesses in making precise diagnosis for adults. The Centor criteria are also ineffective in diagnosis for tonsillitis in children and in secondary care settings (hospitals).[12] A modified version of the Centor criteria, which modified the original Centor criteria in 1998, is often used to aid in diagnosis. The original Centor criteria had four major criteria but the modified Centor criteria have five. The five major criteria of the modified Centor score are:
1. Presence of tonsillar exudate
2. Painful neck lymph nodes
3. History of fever
4. Age between five and fifteen years
5. Absence of cough
The possibility of GABHS infection increases with increasing score. The probability for getting GABHS is 2 to 23% for the score of 1, and 25 to 85% for the score of 4.[12] The diagnosis of GABHS tonsillitis can be confirmed by culture of samples obtained by swabbing the throat and plating them on blood agar medium. This small percentage of false-negative results are part of the characteristics of the tests used but are also possible if the person has received antibiotics prior to testing. Identification requires 24 to 48 hours by culture but rapid screening tests (10–60 minutes), which have a sensitivity of 85–90%, are available. In 40% of the people without any symptoms, the throat culture can be positive. Therefore, throat culture is not routinely used in clinical practice for the detection of GABHS.[12]
Bacterial culture may need to be performed in cases of a negative rapid streptococcal test.[29] An increase in antistreptolysin O (ASO) streptococcal antibody titer following the acute infection can provide retrospective evidence of GABHS infection and is considered definitive proof of GABHS infection, but not necessarily of the tonsils.[30] Epstein Barr virus serology can be tested for those who may have infectious mononucleosis with a typical lymphocyte count in full blood count result.[12] Blood investigations are only required for those with hospital admission requiring intravenous antibiotics.[12] Increased values of secreted phospholipase A2[non-primary source needed][24] and altered fatty acid metabolism[non-primary source needed] [31] observed in people with tonsillitis may have diagnostic utility.[clarification needed]
Nasoendoscopy can be used for those with severe neck pain and inability to swallow any fluids to rule out masked epiglottis and supraglotitis. Routine nasoendscopy is not recommended for children.[12]
## Treatment[edit]
Treatments to reduce the discomfort from tonsillitis include:[1][19][20][21][27]
* pain and fever reducing medications such as paracetamol (acetaminophen) and ibuprofen
* warm salt water gargle, lozenges, honey, or warm liquids
There are no antiviral medical treatments for virally caused tonsillitis.[32]
### Antibiotics[edit]
If the tonsillitis is caused by group A streptococcus, then antibiotics are useful, with penicillin or amoxicillin being primary choices.[1][12] Cephalosporins and macrolides are considered good alternatives to penicillin in the acute care setting.[1][33] A macrolide, such as azithromycin or erythromycin, is used for people allergic to penicillin.[1] Individuals who fail penicillin therapy may respond to treatment effective against beta-lactamase producing bacteria such as clindamycin or amoxicillin-clavulanate.[34] Aerobic and anaerobic beta lactamase producing bacteria that reside in the tonsillar tissues can "shield" group A streptococcus from penicillins.[35] There is no significant difference in efficacy of various groups of antibiotics for treating tonsillitis.[12] Intravenous antibiotics can be for those who are hospitalized with inability to swallow and presented with complications.[citation needed] Oral antibiotics can be resumed immediately if the person is clinically improved and able to swallow orally.[12] Antibiotic treatment is usually taken for seven to ten days.[1][5]
### Pain medication[edit]
Paracetamol and nonsteroidal anti-inflammatory drugs (NSAIDs) can be used to treat throat pain in children and adults.[1][12] Codeine is avoided in children under 12 years of age to treat throat pain or following tonsilectomy.[36][37] NSAIDs (such as ibuprofen) and opioids (such as codeine and tramadol) are equally effective at relieving pain, however, precautions should be taken with these pain medications. NSAIDs can cause peptic ulcer disease and kidney damage.[citation needed] Opioids can cause respiratory depression in those who are vulnerable.[12] Anaesthetic mouthwash can also be used for symptomatic relief.[12]
### Corticosteroids[edit]
Corticosteroids reduce tonsillitis pain and improve symptoms in 24 to 48 hours. Oral corticosteroids are recommended unless the person is unable to swallow medications.[12]
### Surgery[edit]
Main article: Tonsillectomy
When tonsillitis recurs frequently, often arbitrarily defined as at least five episodes of tonsillitis in a year,[38] or when the palatine tonsils become so swollen that swallowing is difficult as well as painful, a tonsillectomy can be performed to surgically remove the tonsils.
Children have had only a modest benefit from tonsillectomy for repeated cases of tonsillitis.[39]
## Prognosis[edit]
Since the advent of penicillin in the 1940s, a major preoccupation in the treatment of streptococcal tonsillitis has been the prevention of rheumatic fever, and its major effects on the nervous system and heart.
Complications may rarely include dehydration and kidney failure due to difficulty swallowing, blocked airways due to inflammation, and pharyngitis due to the spread of infection.[19][20][21][27]
An abscess may develop lateral to the tonsil during an infection, typically several days after the onset of tonsillitis.[citation needed] This is termed a peritonsillar abscess (or quinsy).
Rarely, the infection may spread beyond the tonsil resulting in inflammation and infection of the internal jugular vein giving rise to a spreading infectious thrombophlebitis (Lemierre's syndrome).[citation needed]
In strep throat, diseases like post-streptococcal glomerulonephritis[non-primary source needed][40] can occur. These complications are extremely rare in developed nations but remain a significant problem in poorer nations.[41][42]
## Epidemiology[edit]
Tonsillitis occurs throughout the world, without racial or ethnic differences.[43] Most children have tonsillitis at least during their childhood,[44] although it rarely occurs before the age of two.[43] It most typically occurs between the ages of four and five; bacterial infections most typically occur at a later age.[43]
## Society and culture[edit]
Tonsillitis is described in the ancient Greek Hippocratic Corpus.[45]
Recurrent tonsillitis can interfere with vocal function and the ability to perform among people who use their voices professionally.[46][47]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af "Pharyngitis-Tonsillitis in Children and Adults" (PDF). Institut national d'excellence en santé et en services sociaux (INESSS). Institut national d'excellence en santé et en services sociaux (INESSS). March 2016. Retrieved 22 November 2020.
2. ^ a b c "Acute Tonsillitis". NCIthesaurus. Retrieved 3 November 2020.
3. ^ a b Klug TE, Rusan M, Fuursted K, Ovesen T (August 2016). "Peritonsillar Abscess: Complication of Acute Tonsillitis or Weber's Glands Infection?". Otolaryngol Head Neck Surg (Review). 155 (2): 199–207. doi:10.1177/0194599816639551. PMID 27026737. S2CID 13540245.
4. ^ a b c Spinks A, Glasziou PP, Del Mar CB (November 2013). "Antibiotics for sore throat". Cochrane Database Syst Rev (Review) (11): CD000023. doi:10.1002/14651858.CD000023.pub4. PMC 6457983. PMID 24190439.
5. ^ a b c d e f g h i j k l m n Windfuhr JP, Toepfner N, Steffen G, Waldfahrer F, Berner R (April 2016). "Clinical practice guideline: tonsillitis I. Diagnostics and nonsurgical management". Eur Arch Otorhinolaryngol (Practice guideline). 273 (4): 973–87. doi:10.1007/s00405-015-3872-6. PMC 7087627. PMID 26755048.
6. ^ a b c d Lang 2009, p. 2083.
7. ^ a b Jones 2004, p. 674.
8. ^ "Tonsillitis". Archived from the original on 25 March 2016. Retrieved 4 August 2016.
9. ^ Ferri 2015, p. 1646.
10. ^ Windfuhr JP, Toepfner N, Steffen G, Waldfahrer F, Berner R (April 2016). "Clinical practice guideline: tonsillitis II. Surgical management". Eur Arch Otorhinolaryngol (Practice guideline). 273 (4): 989–1009. doi:10.1007/s00405-016-3904-x. PMID 26882912. S2CID 27283377.
11. ^ a b c De M, Anari S (October 2018). "Infections and foreign bodies in ENT". Surgery (Oxf) (Review). 36 (10): 555–556. doi:10.1016/j.mpsur.2018.08.008. PMC 7172438. PMID 32336859.
12. ^ a b c d e f g h i j k l m n o p q r s Bird JH, Biggs TC, King EV (December 2014). "Controversies in the management of acute tonsillitis: an evidence-based review". Clin Otolaryngol (Review). 39 (6): 368–74. doi:10.1111/coa.12299. PMC 7162355. PMID 25418818.
13. ^ Stelter K (2014). "Tonsillitis and sore throat in children". GMS Curr Top Otorhinolaryngol Head Neck Surg (Review). 13: 3. doi:10.3205/cto000110. PMC 4273168. PMID 25587367.
14. ^ a b c d Bochner RE, Gangar M, Belamarich PF (February 2017). "A Clinical Approach to Tonsillitis, Tonsillar Hypertrophy, and Peritonsillar and Retropharyngeal Abscesses". Pediatr Rev (Review). 38 (2): 82. doi:10.1542/pir.2016-0072. PMID 28148705. S2CID 31192934.
15. ^ a b Fugl A, Andersen CL (May 2019). "Epstein-Barr virus and its association with disease - a review of relevance to general practice". BMC Fam Pract (Review). 20 (1): 62. doi:10.1186/s12875-019-0954-3. PMC 6518816. PMID 31088382.
16. ^ Nour p. ???.
17. ^ Gollan B, Grabe G, Michaux C, Helaine S (September 2019). "Bacterial Persisters and Infection: Past, Present, and Progressing". Annu Rev Microbiol (Review). 73: 359–385. doi:10.1146/annurev-micro-020518-115650. PMID 31500532.
18. ^ Tonsillopharyngitis at Merck Manual of Diagnosis and Therapy Professional Edition
19. ^ a b c Wetmore 2007, pp. 756–57.
20. ^ a b c Thuma 2001, p. ???
21. ^ a b c Simon 2005, p. ????
22. ^ Brook I (January 2005). "The role of anaerobic bacteria in tonsillitis". Int J Pediatr Otorhinolaryngol (Review). 69 (1): 9–19. doi:10.1016/j.ijporl.2004.08.007. PMID 15627441.
23. ^ [non-primary source needed] Van Cauwenberge P (1976). "[Significance of the fusospirillum complex (Plaut-Vincent angina)]". Acta Otorhinolaryngol Belg (in Dutch). 30 (3): 334–45. PMID 1015288. — fusospirillum complex (Plaut-Vincent angina) Van Cauwenberge studied the tonsils of 126 patients using direct microscope observation. The results showed that 40% of acute tonsillitis was caused by Vincent's angina and 27% of chronic tonsillitis was caused by Spirochaeta
24. ^ a b [non-primary source needed] Ezzeddini R, Darabi M, Ghasemi B, Jabbari Moghaddam Y, Jabbari Y, Abdollahi S, et al. (2012). "Circulating phospholipase-A2 activity in obstructive sleep apnea and recurrent tonsillitis". Int J Pediatr Otorhinolaryngol. 76 (4): 471–4. doi:10.1016/j.ijporl.2011.12.026. PMID 22297210.
25. ^ van Kempen MJ, Rijkers GT, Van Cauwenberge PB (May 2000). "The immune response in adenoids and tonsils". Int. Arch. Allergy Immunol. (Review). 122 (1): 8–19. doi:10.1159/000024354. PMID 10859465. S2CID 33290556.
26. ^ Perry M, Whyte A (September 1998). "Immunology of the tonsils". Immunology Today (Review). 19 (9): 414–21. doi:10.1016/S0167-5699(98)01307-3. PMID 9745205.
27. ^ a b c MedlinePlus Encyclopedia: Tonsillitis
28. ^ "Tonsillitis - Symptoms, diagnosis and treatment". BMJ Best Practice. 22 August 2019. Retrieved 2020-11-04.
29. ^ Leung AK, Newman R, Kumar A, Davies HD (2006). "Rapid antigen detection testing in diagnosing group A beta-hemolytic streptococcal pharyngitis". Expert Rev Mol Diagn (Review). 6 (5): 761–6. doi:10.1586/14737159.6.5.761. PMID 17009909. S2CID 35041911.
30. ^ Sen ES, Ramanan AV (December 2014). "How to use antistreptolysin O titre". Archives of Disease in Childhood. Education and Practice Edition (Review). 99 (6): 231–8. doi:10.1136/archdischild-2013-304884. PMID 24482289. S2CID 37309363.
31. ^ [non-primary source needed] Ezzedini R, Darabi M, Ghasemi B, Darabi M, Fayezi S, Moghaddam YJ, et al. (2013). "Tissue fatty acid composition in obstructive sleep apnea and recurrent tonsillitis". Int J Pediatr Otorhinolaryngol. 77 (6): 1008–12. doi:10.1016/j.ijporl.2013.03.033. PMID 23643333.
32. ^ "Tonsillitis". medlineplus.gov. Retrieved 2020-12-03.
33. ^ Casey JR, Pichichero ME (2004). "Meta-analysis of cephalosporin versus penicillin treatment of group A streptococcal tonsillopharyngitis in children". Pediatrics (Meta-analysis). 113 (4): 866–882. doi:10.1542/peds.113.4.866. PMID 15060239.
34. ^ Brook I (2009). "The role of beta-lactamase-producing-bacteria in mixed infections". BMC Infect Dis (Review). 9: 202. doi:10.1186/1471-2334-9-202. PMC 2804585. PMID 20003454.
35. ^ Brook I (2007). "Microbiology and principles of antimicrobial therapy for head and neck infections". Infect Dis Clin North Am (Review). 21 (2): 355–91. doi:10.1016/j.idc.2007.03.014. PMID 17561074.
36. ^ "Safety review update of codeine use in children; new Boxed Warning and Contraindication on use after tonsillectomy or adenoidectomy: Safety announcement" (Press release). US Food and Drug Administration. 2013. Retrieved November 9, 2020.
37. ^ Jenco M (2020-10-29). "Do not use codeine, tramadol in children: FDA". AAP News.
38. ^ Georgalas CC, Tolley NS, Narula PA (July 2014). "Tonsillitis". BMJ Clin Evid (Review). 2014. PMC 4106232. PMID 25051184.
39. ^ Burton MJ, Glasziou PP, Chong LY, Venekamp RP (November 2014). "Tonsillectomy or adenotonsillectomy versus non-surgical treatment for chronic/recurrent acute tonsillitis". Cochrane Database Syst Rev (Review) (11): CD001802. doi:10.1002/14651858.CD001802.pub3. PMC 7075105. PMID 25407135.
40. ^ [non-primary source needed] Zoch-Zwierz W, Wasilewska A, Biernacka A, et al. (2001). "[The course of post-streptococcal glomerulonephritis depending on methods of treatment for the preceding respiratory tract infection]". Wiad. Lek. (in Polish). 54 (1–2): 56–63. PMID 11344703.
41. ^ Ohlsson A, Clark K (September 2004). "Antibiotics for sore throat to prevent rheumatic fever: yes or no? How the Cochrane Library can help". CMAJ. 171 (7): 721–3. doi:10.1503/cmaj.1041275. PMC 517851. PMID 15451830.
42. ^ Danchin, MH; Curtis, N; Nolan, TM; Carapetis, JR (2002). "Treatment of sore throat in light of the Cochrane verdict: is the jury still out?". Medical Journal of Australia. 177 (9): 512–5. doi:10.5694/j.1326-5377.2002.tb04925.x. PMID 12405896. S2CID 1957427. Archived from the original on 2008-07-24. — Medical Journal of Australia commentary on Cochrane analysis
43. ^ a b c Sommers 2015, p. 1078.
44. ^ Sommers 2015, p. 1077.
45. ^ Dean-Jones 2013
46. ^ Sataloff & Hawkshaw 2019.
47. ^ Stadelman-Cohen 2019, pp. 30–52.
### Books cited[edit]
Wikimedia Commons has media related to Tonsillitis.
* Dean-Jones L (2013). "The Child Patient of the Hippocratics: Early Pediatrics?". In Grubbs JE, Parkin T (eds.). The Oxford Handbook of Childhood and Education in the Classical World. Oxford University Press. doi:10.1093/oxfordhb/9780199781546.013.005. ISBN 9780199781546.
* Ferri FF (2015). Ferri's Clinical Advisor 2016: 5 Books in 1 (first ed.). Elsevier Health Sciences. ISBN 978-0323280471.
* Jones R (2005). Oxford Textbook of Primary Medical Care. Oxford University Press. ISBN 9780198567820.
* Lang F (2009). Encyclopedia of Molecular Mechanisms of Disease. Springer Science & Business Media. ISBN 9783540671367.
* Nour SG, Mafee MR, Valvassori GE, Valbasson GE, Becker M (2005). Imaging of the head and neck. Stuttgart: Thieme. p. 716]. ISBN 978-1-58890-009-8.
* Sataloff RT, Hawkshaw MJ (2019). "Medical Care of Voice Disorders". In Eidsheim NS, Meisel K (eds.). The Oxford Handbook of Voice Studies. New York, NY: Oxford University Press. pp. 54–75. doi:10.1093/oxfordhb/9780199982295.013.11. ISBN 978-0-19-998229-5. OCLC 1076410526.
* Simon HB (2005). "Bacterial infections of the upper respiratory tract". In Dale DC, Federman DD (eds.). ACP Medicine, 2006 Edition (Two Volume Set) (Second ed.). WebMD Professional Publishing. ISBN 978-0-9748327-6-0.
* Sommers M, Fannin E (2015). Diseases & Disorders: A Nursing Therapeutics Manual (5th ed.). F.A. Davis Company. ISBN 978-0803638556.
* Stadelman-Cohen TK, Hillman RE (2019). "Voice Dysfunction and Recovery". In Welch GF, Howard DM, Nix J (eds.). The Oxford Handbook of Singing. Oxford University Press. pp. 30–52. doi:10.1093/oxfordhb/9780199660773.013.018. ISBN 978-0-19-966077-3.
* Thuma P (2001). "Pharyngitis and tonsillitis". In Hoekelman RA, Adam HM, Nelson NM, Weitzman ML (eds.). Primary pediatric care (4th ed.). St. Louis: Mosby. ISBN 978-0-323-00831-0.
* Wetmore RF (2007). "Tonsils and adenoids". In Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds.). Nelson textbook of pediatrics (18th ed.). Philadelphia: Saunders. ISBN 978-1-4160-2450-7.
Classification
D
* ICD-10: J03, J35.0
* ICD-9-CM: 463
* MeSH: D014069
* DiseasesDB: 13165
External resources
* MedlinePlus: 001043
* eMedicine: article/871977
* Patient UK: Tonsillitis
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
Authority control
* NDL: 00563120
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Tonsillitis | c0040425 | 28,870 | wikipedia | https://en.wikipedia.org/wiki/Tonsillitis | 2021-01-18T19:04:20 | {"mesh": ["D014069"], "umls": ["C0040425"], "wikidata": ["Q186470"]} |
A number sign (#) is used with this entry because juvenile amyotrophic lateral sclerosis-2 (ALS2) can be caused by homozygous mutation in the gene encoding alsin (ALS2; 606352) on chromosome 2q33.
Juvenile primary lateral sclerosis (PLSJ; 606353) and infantile-onset ascending spastic paralysis (IAHSP; 607225) are allelic disorders with overlapping phenotypes.
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Clinical Features
In an Amish isolate, Gragg et al. (1971) observed 2 brothers with onset in the first decade of the ALS symptom complex: distal muscular atrophy, increased deep tendon reflexes, spasticity, and fasciculations. Refsum and Skillicon (1954) described the same phenotype in 2 brothers and a sister, with onset between 3 and 5 years of age. They stated that the condition was indistinguishable from amyotrophic lateral sclerosis (ALS; 105400).
Hentati et al. (1992, 1994) reported a Tunisian family in which 10 members had juvenile-onset ALS with symptoms beginning between ages 3 and 23 years. The disorder was characterized by progressive spasticity of the limb, facial, and pharyngeal muscles with spastic gait and spastic dysarthria. Some patients had amyotrophy of the hands and peroneal muscles. Several patients had uncontrolled laughter and weeping, consistent with pseudobulbar symptoms. This family had also been reported in a larger series of affected families by Ben Hamida et al. (1990).
Kress et al. (2005) reported a Turkish man, born of consanguineous parents, with juvenile ALS confirmed by mutation in the ALS2 gene (606352.0011). He had a severe disease course with onset at age 2 years of difficulty walking, spastic gait, hyperreflexia, and extensor plantar responses. Spastic tetraparesis and pseudobulbar paralysis developed at ages 12 and 15 years, respectively. He became wheelchair-bound at age 16 and anarthric at 18. He also had mild distal amyotrophy of the upper and lower limbs.
Shirakawa et al. (2009) reported 2 Japanese brothers, born of unrelated parents, with juvenile ALS. The older brother, who was more severely affected, started walking on tiptoes at age 13 months and had never run. He developed dysarthria at age 11 years and lost the ability to speak at 14. At age 32, he had lower limb spasticity, extensor plantar responses, and complete paralysis of the tongue. He had mild signs of lower motor neuron involvement, with distal muscle atrophy of the limbs, and normal cognition. The younger brother had a milder disease course, with walking at age 3 years, but ability to participate in gym during elementary school. At age 23, he had unintelligible speech, mild muscle atrophy in the extremities, and normal cognition.
### Clinical Variability
Sheerin et al. (2014) reported 2 unrelated consanguineous families in which a sib pair had ALS2 manifest as severe spastic quadriparesis and generalized dystonia. Two sibs of Bangladeshi descent had upper and lower limb spasticity that began in early childhood. The sister had global developmental delay and did not walk by age 2 years, whereas the brother had normal motor milestones and started toe-walking at age 12 months. At age 13 years, the sister was wheelchair-bound with marked limb spasticity, contractures, dystonia, nystagmus, anarthria, and distal lower-limb wasting, suggesting lower motor neuron involvement. At age 7 years, the brother had limb spasticity with clonus and dystonia, ataxia, and hyperreflexia. Both patients also had mild microcephaly. An unrelated 32-year-old Turkish man was severely affected. He had difficulty walking at age 2 to 3 years and became wheelchair-bound at age 8. The disorder was progressive, and he became anarthric with dysphagia, profound muscle weakness and atrophy, contractures, spasticity, dystonia, opisthotonus, and retrocollis. Deep-brain stimulation did not result in improvement. Cognition appeared intact. His sister was reportedly similarly affected. Sheerin et al. (2014) noted that these patients exhibited dystonia in addition to classic signs of ALS, thus expanding the phenotypic spectrum associated with ALS2.
Mapping
By linkage analysis of a large consanguineous Tunisian family with juvenile ALS, Hentati et al. (1992) established linkage to chromosome 2q33-q35 (maximum lod score of 7.67 at marker D2S72). Haplotype analysis indicated a 20- to 25-cM interval between CRYG (123660) and COL3A1 (120180). By further linkage analysis in this family, Hentati et al. (1994) refined the ALS2 locus to an 8-cM region between D2S115 and D2S155. By linkage and haplotype analyses, Hosler et al. (1998) refined the ALS2 locus to a 1.7-cM region. Hadano et al. (1999) assigned the ALS2 gene to 2q33-q34 by inclusion within a YAC contig.
Molecular Genetics
In affected members of the Tunisian family reported by Ben Hamida et al. (1990) and Hentati et al. (1992, 1994), Yang et al. (2001) and Hadano et al. (2001) identified a homozygous mutation in the ALS2 gene (606352.0001).
In 2 pairs of sibs from 2 unrelated consanguineous families with severe juvenile ALS associated with dystonia, Sheerin et al. (2014) identified 2 different homozygous truncating mutations in the ALS2 gene (G668X, 606352.0016 and c.4573dupG, 606352.0017). The mutation in 1 family was found by whole-exome sequencing, whereas the mutation in the other family was found by candidate gene sequencing. Functional studies of the variants were not performed.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Spasticity of the facial muscles Mouth \- Sialorrhea \- Difficulty in tongue movements ABDOMEN Gastrointestinal \- Dysphagia MUSCLE, SOFT TISSUES \- Amyotrophy of hand muscles \- Amyotrophy of distal limb muscles \- Muscle biopsy shows neurogenic atrophy NEUROLOGIC Central Nervous System \- Upper motor neuron signs \- Spasticity of lower and upper limbs \- Spastic gait \- Spastic tetraparesis \- Spasticity of pharyngeal muscles \- Spastic dysarthria \- Spasticity of facial muscles \- Pseudobulbar symptoms (uncontrolled laughter, weeping) \- Dystonia (in some patients) \- Dysarthria \- Anarthria \- Hyperreflexia \- Extensor plantar responses \- Lower motor neuron signs \- EMG shows evidence of denervation Peripheral Nervous System \- No sensory abnormalities MISCELLANEOUS \- Age at onset 3 to 23 years \- Progressive disorder \- Allelic disorder to juvenile primary lateral sclerosis (PLSJ, 606353 ) \- Allelic disorder to infantile-onset ascending spastic paralysis (IAHSP, 607225 ) MOLECULAR BASIS \- Caused by mutation in the alsin gene (ALS2, 606352.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE | c1859807 | 28,871 | omim | https://www.omim.org/entry/205100 | 2019-09-22T16:31:06 | {"doid": ["0060194"], "mesh": ["C565957"], "omim": ["205100"], "orphanet": ["300605"], "synonyms": ["ALS, JUVENILE", "Alternative titles", "JALS", "Juvenile Lou Gehrig disease", "Juvenile Charcot disease"], "genereviews": ["NBK1243", "NBK1450"]} |
Kraurosis vulvae
SpecialtyUrology
Kraurosis vulvae is a cutaneous condition characterized by atrophy and shrinkage of the skin of the vagina and vulva often accompanied by a chronic inflammatory reaction in the deeper tissues.[1]
## See also[edit]
* Balanitis xerotica obliterans
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
## External links[edit]
Classification
D
* ICD-10: N90.4 (ILDS N90.410)
* MeSH: D007724
* DiseasesDB: 33803
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Kraurosis vulvae | c0022783 | 28,872 | wikipedia | https://en.wikipedia.org/wiki/Kraurosis_vulvae | 2021-01-18T19:04:57 | {"mesh": ["D007724"], "umls": ["C0022783"], "icd-10": ["N90.4"], "wikidata": ["Q1664923"]} |
Intravascular lymphomas
Other namesSubtypes: intravascular large B-cell lymphoma; intravascular NK/T-cell lymphoma; intravascular NK-cell lymphoma; Intravasular T-cell lymphoma
Micrograph showing an intravascular large B-cell lymphoma in a blood vessel of the brain. H&E stain.
SpecialtyHematology, oncology, dermatology
CausesEpstein-Barr virus for intravascular NK- and T-cell lymphomas
PrognosisGuarded
Intravascular lymphomas (IVL) are rare cancers in which malignant lymphocytes proliferate and accumulate within blood vessels. Almost all other tyes of lymphoma involve the proliferation and accumulation of malignant lymphocytes in lymph nodes, other parts of the lymphatic system (e.g. the spleen), and various non-lymphatic organs (e.g. bone marrow and liver) but not in blood vessels.[1]
IVL fall into three different forms based on the type of lymphocyte causing the disease. Intravascular large B-cell lymphoma (IVBCL), which constitutes ~90% of all IVL, is a lymphoma of malignant B-cell lymphocytes[2] as classified by the World Health Organization, 2016.[3] The remaining IVL types, which have not yet been formally classified by the World Health Organization, are defined based mainly on case reports;[1] these IVL are 1) intravascular NK-cell lymphoma (IVNKL) in which the malignant cells are a type of T cell lymphocyte termed natural killer cells (NK-cells) and 2) intravascular T-cell lymphoma (IVTL) in which the neoplastic cells are primarily, if not exclusively, a type of t-cell termed cytotoxic T-cells. Because of their similarities and extreme rarities, IVL lymphomas caused by NK-cells and cytotoxic T-cells are often grouped together under the term intravascular NK/T cell lymphomas (IVNK/TL).[4] The malignant cells in IVNK/TL are typically infected with the Epstein-Barr virus suggesting that these lymphomas are examples of the Epstein-Barr virus-associated lymphoproliferative diseases.[4] Since infection with this virus is rarely seen in IVBCL, this form of IVL is not typically regarded as one of the Epstein-Barr virus-associated lymphoproliferative diseases.[2]
Intravascular large B-cell[5] and intravascular NK/T cell[4] IVL are typically very aggressive lymphomas that afflict middle-aged and elderly adults. At the time of diagnosis, they accumulate within small-sized and medium-sized but not large-sized blood vessels of the skin, central nervous system, and, less frequently. virtually any other organ system. Unlike most lymphomas, however, they generally do not accumulate or infiltrate lymph nodes. All of the IVL are frequently associated with systemic B symptoms such as fever and weight loss, as well as symptoms related to the other organs in which they accumulate in blood vessels, constrict blood flow, and thereby cause severe damage due to infarction, i.e. damage due to the loss of blood flow.[4][5]
Historically, most cases of the intravascular lymphomas responded very poorly to standard chemotherapy regimens that were used to treat other types of the B-cell lymphomas. With few exceptions, these intravascular lymphomas progressed very rapidly. More recently, however, the addition to these chemotherapy regimens of the immunotherapy agents, Rituximab, which acts to kill B-cells, has greatly improved their effectiveness and thereby the prognosis of the most common form of these diseases, the intravascular B-cell lymphomas.[5] Unfortunately, no such agent that is directed against NK-cells or cytotoxic T-cells has yet been reported to be useful in treating these two types of the intravascular B-cell lymphomas.
## Contents
* 1 History
* 2 Intravascular large B-cell lymphoma
* 2.1 Pathophysiology of the intravascular B-cell lymphomas
* 2.2 Intravascular large B-cell lymphoma, classical variant
* 2.2.1 Presentation
* 2.2.2 Diagnosis
* 2.2.3 Treatment and prognosis
* 2.3 Intravascular large B-cell lymphoma, cutaneous variant
* 2.3.1 Presentation
* 2.3.2 diagnosis
* 2.3.3 Treatment and prognosis
* 2.4 Intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant
* 2.4.1 Presentation
* 2.4.2 Diagnosis
* 2.4.3 Treatment and prognosis
* 3 Intravascular NK/T cell lymphomas
* 3.1 Pathophysiology
* 3.2 Presentation
* 3.3 Diagnosis
* 3.4 Treatment and Prognosis
* 4 See also
* 5 References
* 6 External links
## History[edit]
In 1959, Pfleger and Tappeiner first reported on a cancer in which malignant cells grew uncontrollably within the lumen of blood vessels; the authors suggested that these malignant cells were derived from the endothelial cells lining the vasculature and therefore termed the disorder angioendotheliomatosis proliferans systemisata.[6] Subsequent studies reported in 1982, 1985, and 1986 led to the conclusion that these malignant cells were derived from lymphocytes rather than endothelial cells. These along with other studies termed the disease angioendotheliomatosis, neoplastic angiotheliomatosis, intravascular lymphomatosis, angioendotheliotropic (intravascular) lymphoma, angiotropic large-cell lymphoma, diffuse large-cell lymphoma,[7] intralymphatic lymphomatosis, and, less specifically, malignant angioendotheliomatosis or intravascular lymphoma. By 20001, the World Health Organization had defined the disease as a malignant B-cell lymphoma termed intravascular large B-cell lymphoma.
Santucci et al. first reported a case of IVL that involved malignant NK cells. Some 2 dozen other cases of intravascular NK cell lymphoma have been reported by 2018.[8] In 2008, 29 case reports of purported intravascular T-cell lymphoma were reviewed; only two of these cases were associated with evidence strongly suggesting that the malignant cells were cytotoxic T-cells. Subsequently, a few more cases of cytotoxic T-cell-based have been reported. There remains a possibility that future studies will find other T-cell types may cause IVTCL.[9]
## Intravascular large B-cell lymphoma[edit]
Intravascular large B-cell lymphomas fall into three distinct variants, all of which involve the intravascular accumulation of malignant B-cells and appear to have a similar pathophysiology. However, they differ in the distribution of their lesions, types of populations afflicted, prognoses, and treatments. These three variants are: 1) intravascular large B-cell lymphoma classical, 2) intravascular large B-cell lymphoma, cutaneous variant, and 3) intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant.[5] The following sections give the common pathophysiology of the three variants and then describes the lesions, populations afflicted, prognoses, and treatments of each variant in separate sections.
### Pathophysiology of the intravascular B-cell lymphomas[edit]
The gene, chromosome, and gene expression abnormalities in IVBCL have not been fully evaluated. Studies to date indicate that the malignant cells in this disease have mutations in their MYD88 (44% of cases) and CD79B (26% of cases) genes.[5] The exact mutation seen in the MYD88 (i.e. L265P)[10] and some or the mutations in CD79B[11] occur in diverse types of lymphoma. Other abnormalities seen in the small numbers of cases that have been studied so far include translocations between chromosome 14 and 18; tandem triplications of both the BCL2 gene located on the long arm of chromosome 18 at position q21 and the KMT2A gene located on the long arm of chromosome 11 between positions 22 and 25.[5] The product protein of BCL2 viz., Bcl-2, regulates cell survival and apoptosis (i.e. programmed cell death) and the product protein of KMT2a viz., MLL regulates cell maturation. Abnormalities in BCL2[12] and KMT2A[13] are associated with other types of B-cell lymphomas. It seems likely that these or other gene, chromosome, and/or gene expression abnormalities contribute to the development and/or progression of IVBCL.
The malignant B-cells in IVBCL fail to express the CD29 protein while the endothelial cells in close proximity to the intravascular accumulations of the malignant B-cells fail to express key CXC chemokine receptor proteins particularly CxcL12 but also Cxcr5, Ccr6, and/or Ccr7. The failure of the endothelial cells to express these receptor proteins may be due to the action of nearby malignant B-cells. In any event, all of the cited proteins are involved in the movement of B-cells from the intravascular space across the vascular endothelium and into tissues. The lack of these proteins may explain the accumulation of the malignant B-cells of IVLBC within blood vessels.[5]
In about 80% of cases, the malignant B-cells in IVBCL are "non-germinal center B-cells" as defined by the Hans algorithm[14] rather than the "germinal center B-cells" that are commonly found in less aggressive B-cell lymphomas. This factor may contribute to the aggressiveness of IVBCL.[5]
### Intravascular large B-cell lymphoma, classical variant[edit]
#### Presentation[edit]
Individuals presenting with the classical variant of IVLBL are typically middle-aged or elderly (39–90 years) that have one or more of the following: systemic symptoms, particularly fever (45% of cases);[5] cutaneous lesions (40%); central nervous system disorders (35%);[2] and clinical and laboratory abnormalities involving the bone marrow (~18%), lung (~6%), and, rarely, endocrine glands (e.g. pituitary, thyroid, adrenal gland[2]), liver, prostate, uterus, eye, intestine, and in individual cases almost any other organ or tissue.[15] These findings are based primarily on studies of 740 patients conducted in Europe; a study conducted in Quebec, Canada on 29 patients gave similar results.[15] Individuals may present with one, two, or more of these abnormalities. Systemic symptoms include not only the most commonly seen one viz., fever, but also malaise, weight loss, and other B symptoms; the cutaneous lesions include singular or multiple plaques, nodules, tumors, and ulcerations, some of which may be painful and most of which are located on the breast, lower abdomen, and/or extremities. Central nervous system defects include sensory and/or motor neuropathy, spinal nerve root pain, paresthesia, hypoesthesia, aphasia, dysarthria, hemiparesis, seizures, myoclonus, transient visual loss, vertigo, altered conscious states, and, particularly in relapsed disease, neurolymphomatosis (i.e. direct invasion of one or more nerves in the peripheral nervous system by the malignant B-cells).[5] Laboratory studies generally show non-specific abnormalities: elevated levels of serum lactate dehydrogenase and soluble IL2RA;[16] anemia, decreases in blood platelet levels, and decreases in white blood cell levels in 25%->50% of cases.[7] Circulating malignant B-cells are not found in 90-95% of cases[5] and laboratory evidence of organ injury is found in those cases involving these organs.[7]
#### Diagnosis[edit]
The diagnosis of IVBCL is heavily dependent upon obtaining biopsy specimens from involved tissues, particularly the skin but in cases without skin lesions, other apparently involved tissues. Microscopic examination of these tissues typically shows medium-sized to large-sized lymphocytes located within small- to medium-sized blood vessels of the skin, lung, and other tissues or the sinusoids of the liver, bone marrow, and spleen. On occasion, these malignant cells have the appearance of Reed-Sternberg cells. The lesions should show no or very little extension outside of blood vessels. As determined by immunohistochemistry analyses, the intravascular malignant lymphocytes express typical B-cell proteins, particularly CD20, which is found in almost all cases, CD79a and Pax5, which are found in most cases,[5] and MUM1 and Bcl-2, which are found in 95% and 91% of cases, respectively.[2] These B-cells are usually (80% of cases) non-germinal center B-cells (see Pathophysiology section) and may express one or more of the gene, chromosome, and gene expression abnormalities described in the above Pathophysiology section. Since the classical variant can present with a wide range of clinical signs, symptoms, and organ involvements, its presence may not be apparent, particularly in cases that do not exhibit clinically apparent skin lesions. Accordingly, random skin biopsies have been used to obtain evidence of IVL in cases that have signs and/or symptoms of the disease that are restricted to non-cutaneous sites,[2] even in cases that present with no other finding except unexplained fever.[17] The diagnosis of IVBCL, classical variant is solidified by finding these pathological features in more than one site.[2]
#### Treatment and prognosis[edit]
At diagnosis, IVBCL must be regarded as an aggressive and disseminated malignancy requiring systemic chemotherapy. In the absence of long- or short-term, controlled clinical trials on treating this lymphoma, individuals with IVBCL have been treated with the standard regimen used to treat diffuse large B-cell lymphomas viz., the CHOP chemotherapy regimen which consists of cyclophosphamide, hydroxydaunorubicin (also termed doxorubicin or adriamycin), oncovin (also termed vincristine), and a corticosteroid (i.e. either prednisone or prednisolone) plus the monoclonal antibody immunotherapy agent, Rituximab. This immunochemotherapeutic regimen has achieved an overall survival rate at 3 years of 81%; this overall survival rate using CHOP before Retuximab was added to the regimen was only 33%. However, highly toxic reactions to Rituximab such as pulmonary failure may occur and require delay or interrupting the use of this drug. High dose chemotherapy regimens followed by autologous stem-cell transplantation has offered clinical improvement similar to that found with the CHOP plus Rituximabn. However, only a small percentage of patients with IVBCL are young and healthy enough to receive this regimen.[5] Intravenous methotrexate may be a useful addition to the rituximab-CHOP regiment in individuals with central nervous system involvement.[18][19]
### Intravascular large B-cell lymphoma, cutaneous variant[edit]
#### Presentation[edit]
The cutaneous variant, which comprises a small percentage of all IVBCL cases, occurs almost exclusively in females and younger individuals (median age 59 years) than the classical variant (median age 72 years).[5] Individuals present with lesions that are exclusively or greatly confined to the skin.[2] The clinical features of these lesions are similar to those described in the section on Presentation of the classical variant. Individuals with the cutaneous variant may have systemic symptoms but this occurs less frequently (30% of cases) than those in the classical variant (45% of cases). In general, cutaneous variant patients are in much better physical shape than those with other forms of IVBCL and have a better long-term prognosis.[5]
#### diagnosis[edit]
The diagnosis of IVL, cutaneous variant depends on finding the pathological picture in the skin as described for the classical variant except that the lesions occur exclusively or predominantly in the skin. Ideally, these pathological findings should be found in more than one skin site.[5] However, cutaneous involvement is frequently detected in a single site such as the hypervascular lesions of cherry hemangiomas and angiolipomas.[20]
#### Treatment and prognosis[edit]
Historically, individuals with the cutaneous variant survive significantly longer than that those with the classical variant (3 year overall survival 56% versus 22%). Early intervention in the cutaneous variant would appear to be highly desirable.[5] Virtually all reports on the treatment of the cutaneous variant were made before Rituximab was used to treat IVL. Historically, patients with localized disease obtained prolonged remission with conventional CHOP therapy. However, individuals with single cutaneous lesions were long‐term survivors: when treated with just radiation therapy or surgical removal, these single-lesion patients had prolonged remissions both at initial diagnosis and after relapse. In contrast, patients with multiple lesions had a far worse outcome after treatment with CHOP: they had an objective response in 86% of cases but nonetheless the majority relapsed within a year of treatment with and only a few being successfully managed with salvage chemotherapy.[21] Rituximab may improve the latter situation.
### Intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant[edit]
#### Presentation[edit]
The hemophagocytic syndrome-associated variant of IVBCL is a very rare variant of IVBCL. Its previous name, intravascular large B-cell lymphoma, Asian variant, was recently changed to its current name by the world Health Organization, 2016. Unlike the classical and cutaneous variants, the hemophagocytic syndrome-associated variant presents with the hemophagocytic syndrome. This syndrome is characterized by bone marrow involvement, reduced numbers of circulating blood platelets[5] as well as the reduced levels of other circulating blood cells,[22] and enlarged liver and spleen. Less often, it is also associated with overt hemophagocytosis (i.e. the engulfment by non-malignant histiocytes of red blood cells, white blood cells, platelets, and their precursor cells that is most commonly found in the bone marrow and other tissues.[5] The syndrome often reflects excessive secretion of inflammatory cytokines and severe systemic inflammation similar to that seen in the cytokine storm syndrome.[2] In general, individuals present with a rapidly progressive disease (median time from onset to diagnosis~4 weeks, range 2–12 weeks).[12] Patients are often extremely ill[12] and suffer from multiple organ failures.[2]
#### Diagnosis[edit]
The diagnosis of the intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant depends on the individual presenting with clinical and laboratory findings compatible with the hemphagocytic syndrome (see previous section) and on the histology of biopsied tissues of the bone marrow, spleen, liver, brain, or other organ that clinical and/or laboratory findings suggest are involved in the disease. Its histology is described in the Diagnosis section of the classical variant but also includes the presence of hemophagocytosis, i.e. the engulfment of red blood cells and/or other mature and immature blood cells.[5] Hemophagocytosis can also be found in sites removed from the intravascular lesions such as the cerebrospinal fluid in patients with central nervous system involvement.[22]
#### Treatment and prognosis[edit]
Prior to the use of rituximab, individuals with this variant generally followed a rapidly (i.e. weeks to months) fatal course even when treated with the CHOP regimen. However, addition of rituximab to the CHOP regimen appears to have improved the treatment of this disease. Intravenous methotrexate may be a useful addition to the rituximab-CHOP regiment in individuals with central nervous system involvement.[18][19]
## Intravascular NK/T cell lymphomas[edit]
### Pathophysiology[edit]
Three studies have examine gene mutations and gene expression abnormalities in IVNK/TL. A retrospective study of 25 patients identified numerous gene abnormalities including tumor-specific splicing alterations in oncogenes and tumor suppressor genes such as HRAS, MDM2, and VEGFA as well as premature termination mutations or copy number losses in a total of 15 splicing-regulator genes such as SF3B5 and TNPO3.[23] A study of two patients with IVNKL identified mutations in genes that produce histone proteins (HIST1H2BE, HIST1H2BN and H3F3A), the histone deacetylase gene, HDAC5, two genes that produce helicase proteins (WRN and DDX3X), two genes that make DNA methylation-related enzymes (TET2 and DNMT1) and a gene in the SWI/SNF family of chromatin remodeling genes, ARID1A.[24] In a third study of a single patient, copy number analysis identified driver gene alterations in ARID1B, HACE1, and SMAD4 genes and gain of the SOX2 gene.[8] While further studies are needed before conclusions can be made, one or more of these gene abnormalities may contribute to the development and/or progression of IVNK/TL.
The malignant NK and T cells that accumulate within the vascular of individuals with IVNK/TL are usually infected with the Epstein-Barr virus (EBV). This suggests that most IVNK/TL cases are examples of the Epstein-Barr virus-associated lymphoproliferative diseases and, like these diseases, are EBV-driven.[8] About 95% of the world's population is infected with EBV. During the initial infection, the virus may cause infectious mononucleosis, only minor non-specific symptoms, or no symptoms. Regardless of this, the virus enters a latency phase and the infected individual becomes a lifetime asymptomatic carrier of EBV. Weeks, months, years, or decades thereafter, a small percentage of these carriers develop an EBV-associated lymphoproliferative disease,[25][26] including in extremely rare cases IVNK/TL.[8] EBV is well known to infect NK- and T-cells, to express some of its genes that promote the survival and proliferation of the cells it infects, and thereby to cause various and far more common NK- and T-cell lymphomas.[27] It seems likely that the virus acts similarly to cause IVNK/TL.[8] IVNK/TL may differ from the other types of NK- and T-cell lymphomas which EBV produces because its NK- and T-cells and nearby endothelial cells have defects in the expression of proteins required for the NK/T-cells to pass through the endothelium and into the surrounding tissues (see above section on the Pathopysiology IVBCL).[28]
### Presentation[edit]
Individuals (age range 23–81 years[8]) with IVNK/TL typically have a rapidly progressive disease. They commonly present with skin lesions, less commonly symptoms due to central nervous system involvement, and in a minority of cases symptoms due to the involvement of the bone marrow, liver, kidneys, ovaries, and/or cervix.[1] They often show signs of an disseminated disease such as fever, weight loss, night sweats, arthralgias, jaundice, decreased numbers of circulating red blood cells, white blood cells, and/or platelets, bone marrow involvement as determined by biopsy, and signs/symptoms of multiple organ involvement.[8]
### Diagnosis[edit]
The diagnosis of IVNK/TL depends upon obtaining histology findings in the skin and/or other involved tissue that resembles that seen in IVBCL except that the malignant lymphocytes are not B-cells but rather: 1) NK-cells as evidenced by their expression of NK-cell selective marker proteins (e.g. CD3e, CD2, CD30, CD43, CD56, and/or CD79), expression of granule-bound enzymes (e.g. granzyme B),[8] and expression of EBV proteins (e.g. Epstein–Barr virus latent membrane protein 1[8] and EBV-produced small RNAs[1]); but not the expression of B-cell (e.g. CD20, CD79a, and Pax5) or cytotoxic T cell marker proteins;[8] and 2) cytotoxic T-cell lymphoma as evidenced by the neoplastic cells' expression of T-cell co-receptor proteins (e.g. CD3, CD4, and/or CD8) as well as EBV marker proteins and/or small RNAs but usually not B-cell or NK-cell marker proteins.[9]
### Treatment and Prognosis[edit]
Patients with IVNK/TL have been treated with various chemotherapy regimens, particularly CHOP or, less commonly, hyperCVAD. Rare patients have been treated with chemotherapy followed by hematopoietic stem cell transplantation or chemotherapy plus a proteasome inhibitor, bortezomib. In general, patients have responded poorly to treatment, have short (i.e. up to 12 months) survival times regardless of the chemotherapy regimen used.[8][9][29][30] Rituximab does not target NK- or T-cells and therefore is not used to treat IVNK/TL.
## See also[edit]
* Proliferating angioendotheliomatosis
* List of cutaneous conditions
## References[edit]
1. ^ a b c d Bi Y, Huo Z, Liang Z, Meng Y, Jia C, Shi X, Song L, Luo Y, Ling Q, Liu T (July 2015). "Intravascular NK-cell lymphoma: a case report and review of the literature". Diagnostic Pathology. 10: 84. doi:10.1186/s13000-015-0336-7. PMC 4488042. PMID 26126576.
2. ^ a b c d e f g h i j Korkolopoulou P, Vassilakopoulos T, Milionis V, Ioannou M (July 2016). "Recent Advances in Aggressive Large B-cell Lymphomas: A Comprehensive Review". Advances in Anatomic Pathology. 23 (4): 202–43. doi:10.1097/PAP.0000000000000117. PMID 27271843.
3. ^ Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, Advani R, Ghielmini M, Salles GA, Zelenetz AD, Jaffe ES (May 2016). "The 2016 revision of the World Health Organization classification of lymphoid neoplasms". Blood. 127 (20): 2375–90. doi:10.1182/blood-2016-01-643569. PMC 4874220. PMID 26980727.
4. ^ a b c d Yan J, Zhang F, Luo D, Yao S, Chen Y, Xu F, Luo X, He J, Liu Y (2017). "Intravascular NK/T-cell lymphoma: a series of four cases". International Journal of Clinical and Experimental Pathology. 10 (9): 9541–9550. PMC 6965900. PMID 31966830.
5. ^ a b c d e f g h i j k l m n o p q r s t Ponzoni M, Campo E, Nakamura S (October 2018). "Intravascular large B-cell lymphoma: a chameleon with multiple faces and many masks". Blood. 132 (15): 1561–1567. doi:10.1182/blood-2017-04-737445. PMID 30111607.
6. ^ PFLEGER L, TAPPEINER J (August 1959). "[On the recognition of systematized endotheliomatosis of the cutaneous blood vessels (reticuloendotheliosis?]". Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und Verwandte Gebiete (in German). 10: 359–63. PMID 14432547.
7. ^ a b c Shimada K, Kinoshita T, Naoe T, Nakamura S (September 2009). "Presentation and management of intravascular large B-cell lymphoma". The Lancet. Oncology. 10 (9): 895–902. doi:10.1016/S1470-2045(09)70140-8. PMID 19717091.
8. ^ a b c d e f g h i j k Zanelli M, Mengoli MC, Del Sordo R, Cagini A, De Marco L, Simonetti E, Martino G, Zizzo M, Ascani S (November 2018). "Intravascular NK/T-cell lymphoma, Epstein-Barr virus positive with multiorgan involvement: a clinical dilemma". BMC Cancer. 18 (1): 1115. doi:10.1186/s12885-018-5001-6. PMC 6238309. PMID 30442097.
9. ^ a b c Gleason BC, Brinster NK, Granter SR, Pinkus GS, Lindeman NI, Miller DM (February 2008). "Intravascular cytotoxic T-cell lymphoma: A case report and review of the literature". Journal of the American Academy of Dermatology. 58 (2): 290–4. doi:10.1016/j.jaad.2006.12.022. PMID 18222325.
10. ^ Weber AN, Cardona Gloria Y, Çınar Ö, Reinhardt HC, Pezzutto A, Wolz OO (November 2018). "Oncogenic MYD88 mutations in lymphoma: novel insights and therapeutic possibilities". Cancer Immunology, Immunotherapy : CII. 67 (11): 1797–1807. doi:10.1007/s00262-018-2242-9. PMID 30203262.
11. ^ Cetin GO, Baris IC, Caner V, Sarikepe B, Sen Turk N, Tepeli E, Hacioglu S, Sari I, Bagci G, Keskin A (March 2016). "Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin's lymphomas: novel CD79B variations have been revealed". European Review for Medical and Pharmacological Sciences. 20 (5): 830–6. PMID 27010137.
12. ^ a b c Li S, Lin P, Medeiros LJ (August 2018). "Advances in pathological understanding of high-grade B cell lymphomas". Expert Review of Hematology. 11 (8): 637–648. doi:10.1080/17474086.2018.1494567. PMID 29989509.
13. ^ Guenther MG, Jenner RG, Chevalier B, Nakamura T, Croce CM, Canaani E, Young RA (June 2005). "Global and Hox-specific roles for the MLL1 methyltransferase". Proceedings of the National Academy of Sciences of the United States of America. 102 (24): 8603–8. doi:10.1073/pnas.0503072102. PMC 1150839. PMID 15941828.
14. ^ Hans CP, Weisenburger DD, Greiner TC, Gascoyne RD, Delabie J, Ott G, Müller-Hermelink HK, Campo E, Braziel RM, Jaffe ES, Pan Z, Farinha P, Smith LM, Falini B, Banham AH, Rosenwald A, Staudt LM, Connors JM, Armitage JO, Chan WC (January 2004). "Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray". Blood. 103 (1): 275–82. doi:10.1182/blood-2003-05-1545. PMID 14504078.
15. ^ a b Fonkem E, Lok E, Robison D, Gautam S, Wong ET (August 2014). "The natural history of intravascular lymphomatosis". Cancer Medicine. 3 (4): 1010–24. doi:10.1002/cam4.269. PMC 4303169. PMID 24931821.
16. ^ Sukswai N, Lyapichev K, Khoury JD, Medeiros LJ (January 2020). "Diffuse large B-cell lymphoma variants: an update". Pathology. 52 (1): 53–67. doi:10.1016/j.pathol.2019.08.013. PMID 31735345.
17. ^ di Fonzo H, Contardo D, Carrozza D, Finocchietto P, Rojano Crisson A, Cabral C, de Los Angeles Juarez M (May 2017). "Intravascular Large B Cell Lymphoma Presenting as Fever of Unknown Origin and Diagnosed by Random Skin Biopsies: A Case Report and Literature Review". The American Journal of Case Reports. 18: 482–486. doi:10.12659/ajcr.903816. PMC 5421743. PMID 28461685.
18. ^ a b Komeno Y, Akiyama M, Okochi Y, Tokuda H, Abe K, Iihara K, Ryu T (2019). "Hemophagocytic Syndrome-Associated Variant of Methotrexate-Associated Intravascular Large B-Cell Lymphoma in a Rheumatoid Arthritis Patient". Case Reports in Hematology. 2019: 8947616. doi:10.1155/2019/8947616. PMC 6755279. PMID 31612088.
19. ^ a b Yang JJ, Chen XC, Tang Y, Shen K, Xie LP, Liu T (January 2018). "[Intravascular Large B-cell Lymphoma: a Clinical Analysis of 17 Cases]". Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition (in Chinese). 49 (1): 145–147. PMID 29737107.
20. ^ Saito T, Matsuya T, Takahashi C, Kaneta K, Ohishi Y, Uehara J, Hashimoto M, Honma M, Ishida-Yamamoto A (March 2017). "Cutaneous variant of intravascular large B-cell lymphoma in a Japanese patient: An occult lesion localized in a solitary angiolipoma". The Journal of Dermatology. 44 (3): e28–e29. doi:10.1111/1346-8138.13504. PMID 27422850.
21. ^ Ferreri AJ, Campo E, Seymour JF, Willemze R, Ilariucci F, Ambrosetti A, Zucca E, Rossi G, López-Guillermo A, Pavlovsky MA, Geerts ML, Candoni A, Lestani M, Asioli S, Milani M, Piris MA, Pileri S, Facchetti F, Cavalli F, Ponzoni M (October 2004). "Intravascular lymphoma: clinical presentation, natural history, management and prognostic factors in a series of 38 cases, with special emphasis on the 'cutaneous variant'". British Journal of Haematology. 127 (2): 173–83. doi:10.1111/j.1365-2141.2004.05177.x. PMID 15461623.
22. ^ a b Verma A, Sharma A, Robetorye R, Porter A, Hilal T (2020). "Intravascular Large B-cell Lymphoma Associated with Systemic and Central Nervous System Hemophagocytic Lymphohistiocytosis: A Case Report". The Permanente Journal. 24. doi:10.7812/TPP/19.105. PMC 6907904. PMID 31852057.
23. ^ Fujikura K, Yoshida M, Uesaka K (March 2020). "Transcriptome complexity in intravascular NK/T-cell lymphoma". Journal of Clinical Pathology. doi:10.1136/jclinpath-2020-206461. PMID 32188628.
24. ^ Fujikura K, Yamashita D, Sakamoto R, Ishikawa T, Chuang SS, Itoh T, Imai Y (September 2019). "Intravascular NK/T-cell lymphoma: clinicopathological and integrated molecular analysis of two cases provides a clue to disease pathogenesis". Journal of Clinical Pathology. 72 (9): 642–646. doi:10.1136/jclinpath-2019-205727. PMID 31123138.
25. ^ Houldcroft CJ, Kellam P (March 2015). "Host genetics of Epstein–Barr virus infection, latency and disease". Reviews in Medical Virology. 25 (2): 71–84. doi:10.1002/rmv.1816. PMC 4407908. PMID 25430668.
26. ^ Farrell PJ (August 2018). "Epstein–Barr Virus and Cancer". Annual Review of Pathology. 14: 29–53. doi:10.1146/annurev-pathmechdis-012418-013023. PMID 30125149.
27. ^ de Mel S, Soon GS, Mok Y, Chung TH, Jeyasekharan AD, Chng WJ, Ng SB (June 2018). "The Genomics and Molecular Biology of Natural Killer/T Cell Lymphoma: Opportunities for Translation". International Journal of Molecular Sciences. 19 (7): 1931. doi:10.3390/ijms19071931. PMC 6073933. PMID 29966370.
28. ^ Alhumidi A (July 2015). "Cutaneous Intravascular NK/T-cell lymphoma mimic panniculitis clinically, case report and literature brief review". Diagnostic Pathology. 10: 107. doi:10.1186/s13000-015-0330-0. PMC 4504160. PMID 26178620.
29. ^ Wang L, Chen S, Ma H, Shi D, Huang C, Lu C, Gao T, Wang G (September 2015). "Intravascular NK/T-cell lymphoma: a report of five cases with cutaneous manifestation from China". Journal of Cutaneous Pathology. 42 (9): 610–7. doi:10.1111/cup.12515. PMID 25931234.
30. ^ Melchers RC, Willemze R, Jansen PM, Daniëls LA, Vermeer MH, Quint KD (June 2019). "A rare case of cutaneous Epstein-Barr virus-negative intravascular cytotoxic T-cell lymphoma". JAAD Case Reports. 5 (6): 548–551. doi:10.1016/j.jdcr.2019.04.013. PMC 6581970. PMID 31245517.
## External links[edit]
Classification
D
* ICD-O: 9712/3
* v
* t
* e
Leukaemias, lymphomas and related disease
B cell
(lymphoma,
leukemia)
(most CD19
* CD20)
By
development/
marker
TdT+
* ALL (Precursor B acute lymphoblastic leukemia/lymphoma)
CD5+
* naive B cell (CLL/SLL)
* mantle zone (Mantle cell)
CD22+
* Prolymphocytic
* CD11c+ (Hairy cell leukemia)
CD79a+
* germinal center/follicular B cell (Follicular
* Burkitt's
* GCB DLBCL
* Primary cutaneous follicle center lymphoma)
* marginal zone/marginal zone B-cell (Splenic marginal zone
* MALT
* Nodal marginal zone
* Primary cutaneous marginal zone lymphoma)
RS (CD15+, CD30+)
* Classic Hodgkin lymphoma (Nodular sclerosis)
* CD20+ (Nodular lymphocyte predominant Hodgkin lymphoma)
PCDs/PP
(CD38+/CD138+)
* see immunoproliferative immunoglobulin disorders
By infection
* KSHV (Primary effusion)
* EBV
* Lymphomatoid granulomatosis
* Post-transplant lymphoproliferative disorder
* Classic Hodgkin lymphoma
* Burkitt's lymphoma
* HCV
* Splenic marginal zone lymphoma
* HIV (AIDS-related lymphoma)
* Helicobacter pylori (MALT lymphoma)
Cutaneous
* Diffuse large B-cell lymphoma
* Intravascular large B-cell lymphoma
* Primary cutaneous marginal zone lymphoma
* Primary cutaneous immunocytoma
* Plasmacytoma
* Plasmacytosis
* Primary cutaneous follicle center lymphoma
T/NK
T cell
(lymphoma,
leukemia)
(most CD3
* CD4
* CD8)
By
development/
marker
* TdT+: ALL (Precursor T acute lymphoblastic leukemia/lymphoma)
* prolymphocyte (Prolymphocytic)
* CD30+ (Anaplastic large-cell lymphoma
* Lymphomatoid papulosis type A)
Cutaneous
MF+variants
* indolent: Mycosis fungoides
* Pagetoid reticulosis
* Granulomatous slack skin
aggressive: Sézary disease
* Adult T-cell leukemia/lymphoma
Non-MF
* CD30-: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma
* Pleomorphic T-cell lymphoma
* Lymphomatoid papulosis type B
* CD30+: CD30+ cutaneous T-cell lymphoma
* Secondary cutaneous CD30+ large-cell lymphoma
* Lymphomatoid papulosis type A
Other
peripheral
* Hepatosplenic
* Angioimmunoblastic
* Enteropathy-associated T-cell lymphoma
* Peripheral T-cell lymphoma not otherwise specified (Lennert lymphoma)
* Subcutaneous T-cell lymphoma
By infection
* HTLV-1 (Adult T-cell leukemia/lymphoma)
NK cell/
(most CD56)
* Aggressive NK-cell leukemia
* Blastic NK cell lymphoma
T or NK
* EBV (Extranodal NK-T-cell lymphoma/Angiocentric lymphoma)
* Large granular lymphocytic leukemia
Lymphoid+
myeloid
* Acute biphenotypic leukaemia
Lymphocytosis
* Lymphoproliferative disorders (X-linked lymphoproliferative disease
* Autoimmune lymphoproliferative syndrome)
* Leukemoid reaction
* Diffuse infiltrative lymphocytosis syndrome
Cutaneous lymphoid hyperplasia
* Cutaneous lymphoid hyperplasia
* with bandlike and perivascular patterns
* with nodular pattern
* Jessner lymphocytic infiltrate of the skin
General
* Hematological malignancy
* leukemia
* Lymphoproliferative disorders
* Lymphoid leukemias
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Intravascular lymphomas | c0334660 | 28,873 | wikipedia | https://en.wikipedia.org/wiki/Intravascular_lymphomas | 2021-01-18T18:59:16 | {"umls": ["C0334660"], "orphanet": ["98839"], "wikidata": ["Q6058570"]} |
Combination of hypothermia, acidosis, and coagulopathy
Trauma triad of death
Triad of death
The trauma triad of death is a medical term describing the combination of hypothermia, acidosis, and coagulopathy.[1] This combination is commonly seen in patients who have sustained severe traumatic injuries and results in a significant rise in the mortality rate.[2] Commonly, when someone presents with these signs, damage control surgery is employed to reverse the effects.[citation needed]
The three conditions share a complex relationship; each factor can compound the others, resulting in high mortality if this positive feedback loop continues uninterrupted.[citation needed]
Severe bleeding in trauma diminishes oxygen delivery, and may lead to hypothermia. This in turn can halt the coagulation cascade, preventing blood from clotting. In the absence of blood-bound oxygen and nutrients (hypoperfusion), the body's cells burn glucose anaerobically for energy, causing the release of lactic acid, ketone bodies, and other acidic compounds into the blood stream, which lower the blood's pH, leading to metabolic acidosis. Such an increase in acidity damages the tissues and organs of the body and can reduce myocardial performance, further reducing the oxygen delivery.[citation needed]
## References[edit]
1. ^ Mikhail, J. (Feb 1999), "The trauma triad of death: hypothermia, acidosis, and coagulopathy", AACN Clin Issues, 10 (1): 85–94, doi:10.1097/00044067-199902000-00008, PMID 10347389, S2CID 28587725
2. ^ Lewis, Anne Marie (Mar 2000), "Trauma triad of death emergency", Nursing, 30 (3): 62–4, doi:10.1097/00152193-200030030-00028, PMID 11000823
## External links[edit]
* Mohr, Alicia M.; Asensio, Juan A.; García-Núñez, Luis M.; Petrone, Patrizio; Sifri, Ziad C. (2005), "Guidelines for the Institution of Damage Control in Trauma Patients" (PDF), ITACCS, 15 (4): 185–188
* v
* t
* e
Trauma
Principles
* Polytrauma
* Major trauma
* Traumatology
* Triage
* Resuscitation
* Trauma triad of death
Assessment
Clinical prediction rules
* Revised Trauma Score
* Injury Severity Score
* Abbreviated Injury Scale
* NACA score
Investigations
* Diagnostic peritoneal lavage
* Focused assessment with sonography for trauma
Management
Principles
* Advanced trauma life support
* Trauma surgery
* Trauma center
* Trauma team
* Damage control surgery
* Early appropriate care
Procedures
* Resuscitative thoracotomy
Pathophysiology
Injury
* MSK
* Bone fracture
* Joint dislocation
* Degloving
* Soft tissue injury
* Resp
* Flail chest
* Pneumothorax
* Hemothorax
* Diaphragmatic rupture
* Pulmonary contusion
* Cardio
* Internal bleeding
* Thoracic aorta injury
* Cardiac tamponade
* GI
* Blunt kidney trauma
* Ruptured spleen
* Neuro
* Penetrating head injury
* Traumatic brain injury
* Intracranial hemorrhage
Mechanism
* Blast injury
* Blunt trauma
* Burn
* Penetrating trauma
* Crush injury
* Stab wound
* Ballistic trauma
* Electrocution
Region
* Abdominal trauma
* Chest trauma
* Facial trauma
* Head injury
* Spinal cord injury
Demographic
* Geriatric trauma
* Pediatric trauma
Complications
* Posttraumatic stress disorder
* Wound healing
* Acute lung injury
* Crush syndrome
* Rhabdomyolysis
* Compartment syndrome
* Contracture
* Volkmann's contracture
* Embolism
* air
* fat
* Chronic traumatic encephalopathy
* Subcutaneous emphysema
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Trauma triad of death | None | 28,874 | wikipedia | https://en.wikipedia.org/wiki/Trauma_triad_of_death | 2021-01-18T19:10:03 | {"wikidata": ["Q890226"]} |
## Description
Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets.
For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Clinical Features
Giraldo et al. (1995) described an extraordinary incidence of vitamin D-dependent rickets type 2 associated with normal vitamin D receptor cDNA sequence in a rural area of the Cauca department in the southwest part of Colombia. More than 200 black patients with different types of lower limb deformities were observed. The patients were well nourished and in good physical condition in spite of their lower limb deformities. None of them presented alopecia, myopathy, seizures, or aminoaciduria. Serum analysis showed significantly lower serum calcium than that in normal relatives, although in the low-normal range, normal phosphorus, high alkaline phosphatase, normal 25-hydroxyvitamin D3, and high 1,25-dihydroxyvitamin D3, indicating target organ resistance. Giraldo et al. (1995) suggested that these patients represented a distinct form of receptor-positive resistance to vitamin D. Specifically, they suggested that some posttranslational events may be involved in the VDR dysfunction in this family.
Pathogenesis
Hewison et al. (1993) reported a patient with alopecia, skeletal abnormalities, and biochemical features classically associated with vitamin D-resistant rickets type 2, including hypocalcemia, increased serum alkaline phosphatase, and increased serum levels of 1,25-dihydroxyvitamin D3. Molecular analysis revealed no mutations in the VDR coding region. In vitro studies showed normal ligand-receptor binding of 1,25(OH)2D3, but no nuclear localization of the receptor complex.
In cells from the patient reported by Hewison et al. (1993), Chen et al. (2003) found suppressed basal and hormone-induced transactivation by wildtype VDR. Electrophoretic mobility-shift assays and Western/Southwestern blot analyses indicated that this suppressive effect was due to overexpression of a nuclear protein that specifically interacted with a DNA response element known to bind retinoid X receptor (RXRE; see 180247)-VDR heterodimers. Further investigation showed that this dominant-negative-acting protein was in the family of heterogeneous nuclear ribonucleoproteins (hnRNPs) that act as hormone response element-binding proteins and attenuate target gene transactivation. Several members of this family, most notably HNRNPA1 (164017), were able to suppress basal and 1,25-dihydroxyvitamin D3-induced luciferase activity in vitro. Chen et al. (2003) proposed that vitamin D resistance in this patient was similar to that described in New World primates, in which abnormal expression of a hormone response element-binding protein can cause target cell resistance to vitamin D. That this protein is a member of the hnRNP family capable of interacting with double-stranded DNA highlights a potentially important new component of the complex machinery required for steroid hormone signal transduction.
Chen et al. (2006) purified the nuclear response element-binding protein (REBiP) found by Chen et al. (2003) in the patient reported by Hewison et al. (1993) and demonstrated sequence identity with the human hnRNP C1 and C2 proteins (164020). Western blot analysis confirmed that cells from the VDDR2B patient overexpressed a pair of anti-hnRNP C1/C2-reactive proteins of 39-40 kD, compatible with the hnRNPC1 and the slightly larger hnRNPC2. When overexpressed in vitamin D-responsive cells, cDNAs for both C1 and C2 inhibited VDR-VDRE (vitamin D response element)-directed transactivation by 23% and 42%, respectively (p less than 0.005 for both).
INHERITANCE \- Isolated cases SKELETAL Limbs \- Rickets of the lower limbs \- Lower limb deformities \- Sparse bone trabeculae \- Thin bony cortex \- Generalized bone demineralization \- Delayed opacification of the epiphyses \- Widened, distorted epiphyses \- 'Bulging' epiphyses \- Frayed, irregular, metaphyses \- Bowing of the legs \- Curvatures of the femur, tibia, fibula \- Knee pain \- Genu valgum \- Genu varum SKIN, NAILS, & HAIR Hair \- Alopecia (in 1 patient) \- No alopecia (in one family with >200 affected individuals) LABORATORY ABNORMALITIES \- Low to normal serum calcium \- Increased alkaline phosphatase \- Increased serum 1,25-dihydroxyvitamin D3 \- May have increased serum parathyroid hormone (PTH) MISCELLANEOUS \- Early-onset \- Responsive to treatment \- Based on 2 families described with no mutations in the vitamin D receptor gene (VDR, 601769 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR | c3536983 | 28,875 | omim | https://www.omim.org/entry/600785 | 2019-09-22T16:15:48 | {"doid": ["10609"], "mesh": ["D053098"], "omim": ["600785"], "orphanet": ["93160"]} |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
## Epidemiology
It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.
## Clinical description
The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi.
## Etiology
The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | c1845919 | 28,876 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69088 | 2021-01-23T18:13:17 | {"mesh": ["C564538"], "omim": ["300291", "300301"], "umls": ["C1845919"], "icd-10": ["Q78.2"], "synonyms": ["OL-EDA-ID"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Trigonocephaly-bifid nose-acral anomalies syndrome | c1848743 | 28,877 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3368 | 2021-01-23T17:22:16 | {"gard": ["5126", "5277"], "mesh": ["C564759"], "omim": ["275595"], "umls": ["C1848743"], "icd-10": ["Q87.0"]} |
Pustular bacterid
SpecialtyDermatology
Pustular bacterid is a skin condition characterized by a symmetric, grouped, vesicular or pustular eruption on the palms and soles marked by exacerbations and remissions over long periods of time.[1]:205
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: L40.3 (ILDS L40.380)
* ICD-9-CM: 686.8
* v
* t
* e
Papulosquamous disorders
Psoriasis
Pustular
* Generalized pustular psoriasis (Impetigo herpetiformis)
* Acropustulosis/Pustulosis palmaris et plantaris (Pustular bacterid)
* Annular pustular psoriasis
* Localized pustular psoriasis
Other
* Guttate psoriasis
* Psoriatic arthritis
* Psoriatic erythroderma
* Drug-induced psoriasis
* Inverse psoriasis
* Napkin psoriasis
* Seborrheic-like psoriasis
Parapsoriasis
* Pityriasis lichenoides (Pityriasis lichenoides et varioliformis acuta, Pityriasis lichenoides chronica)
* Lymphomatoid papulosis
* Small plaque parapsoriasis (Digitate dermatosis, Xanthoerythrodermia perstans)
* Large plaque parapsoriasis (Retiform parapsoriasis)
Other pityriasis
* Pityriasis rosea
* Pityriasis rubra pilaris
* Pityriasis rotunda
* Pityriasis amiantacea
Other lichenoid
Lichen planus
* configuration
* Annular
* Linear
* morphology
* Hypertrophic
* Atrophic
* Bullous
* Ulcerative
* Actinic
* Pigmented
* site
* Mucosal
* Nails
* Peno-ginival
* Vulvovaginal
* overlap synromes
* with lichen sclerosus
* with lupus erythematosis
* other:
* Hepatitis-associated lichen planus
* Lichen planus pemphigoides
Other
* Lichen nitidus
* Lichen striatus
* Lichen ruber moniliformis
* Gianotti–Crosti syndrome
* Erythema dyschromicum perstans
* Idiopathic eruptive macular pigmentation
* Keratosis lichenoides chronica
* Kraurosis vulvae
* Lichen sclerosus
* Lichenoid dermatitis
* Lichenoid reaction of graft-versus-host disease
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pustular bacterid | c0263217 | 28,878 | wikipedia | https://en.wikipedia.org/wiki/Pustular_bacterid | 2021-01-18T18:54:10 | {"umls": ["C0263217"], "icd-9": ["686.8"], "icd-10": ["L40.3"], "wikidata": ["Q7262019"]} |
A number sign (#) is used with this entry because autosomal recessive limb-girdle muscular dystrophy-5 (LGMDR5) is caused by homozygous mutation in the gamma-sarcoglycan gene (SGCG; 608896) on chromosome 13q12.
For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).
Nomenclature
At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2C was renamed LGMDR5.
Clinical Features
Autosomal recessive inheritance of a muscular dystrophy resembling X-linked Duchenne muscular dystrophy (DMD; 310200) was reported by Kloepfer and Talley (1958), Dubowitz (1960), and Skyring and McKusick (1961), among others. The clinical course was characterized by onset before age 5 years, confinement to wheelchair by 12 years, and death usually before age 20 years. Pseudohypertrophy was present. Skyring and McKusick (1961) suggested that the signs of cardiac involvement present in the X-linked form may be lacking in the autosomal variety.
McKusick (1971) had the opportunity to restudy 2 affected sibs reported by Kloepfer and Talley (1958). At that time, the 30-year-old sister had evidence of cardiac involvement with chronic congestive heart failure, and the 27-year-old brother had arrhythmia with coronary sinus rhythm by electrocardiogram. The sister had 2 children, aged 6 and 4 years.
Ben Hamida et al. (1983) reported 93 children with a form of autosomal recessive, severe, progressive muscular dystrophy unusually frequent in Tunisia. Of the 93 cases, 75 came from 17 families with affected persons of both sexes and the other 18 came from 11 families with only girls affected. The 28 kindreds included 45 pairs of parents with myopathic children. Over three-fourths of the parental pairs were closely consanguineous, compared with consanguinity rates of 16 to 23% in the general population. Inability to walk occurred between ages 10 and 20. The serum creatine kinase was markedly raised in the early stages of disease. Muscle wasting affected mainly limb girdle and truncal muscles; calf muscle hypertrophy was usually present.
Somer et al. (1985) reported 2 sisters with severe muscular dystrophy from a family of 12 sibs with consanguineous parents. Muscle weakness began at ages 7 and 6 years, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages 12 and 11 years, respectively. They both had mild facial weakness and pseudohypertrophy of the calves, but neither had cardiomyopathy or mental retardation. Serum creatine kinase levels exceeded upper normal limits by 70- to 85-fold. Both girls had a normal karyotype, and the clinical picture was indistinguishable from that of the X-linked form.
Merlini et al. (2000) reported clinical homogeneity among the Romany Gypsies in western Europe with LGMD2C. All shared a common founder mutation (608896.0002). Mean age at onset was 5.3 years. One-half of the patients lost ambulation by the age of 12; 13% could still walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar lordosis were common. Girdle, trunk, and proximal limb muscles had earlier and more severe involvement. Cardiomyopathy was not observed.
In a study of 10 Gypsy patients with LGMD2C, Calvo et al. (2000) found evidence of subclinical cardiac involvement. Electrocardiographic and echocardiographic evaluation indicated mild right ventricular dysfunction.
Other Features
Duchenne muscular dystrophy is caused by mutation in the dystrophin gene (300377) on the X chromosome. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, the dystrophin-glycoprotein complex, which spans the sarcolemma to provide a link between the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin (150320). In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated proteins (Matsumura et al., 1992). Ben Jelloun-Dellagi et al. (1990) demonstrated that the dystrophin protein is normal in the Tunisian form of autosomal recessive muscular dystrophy.
Vainzof et al. (1991) described a 7.5-year-old boy, born of consanguineous parents, with typical symptoms and clinical findings of DMD including hypertrophy of the calves, Gowers sign, and lordosis. Normal dystrophin immunostaining and the lack of DNA deletion with dystrophin probes excluded a diagnosis of X-linked DMD. The presence of normal dystrophin was confirmed by the concomitant use of 2 antibodies, one against the C-terminal region and one against the N-terminal region in Western blot analysis.
In patients with SCARMD, Matsumura et al. (1992) demonstrated deficiency in the 50-kD subunit of the dystrophin-associated glycoprotein (DAG2 or DAG50), also referred to as adhalin or alpha-sarcoglycan (SGCA; 600119). The authors concluded that the loss of adhalin is a common denominator of the pathologic process in DMD and SCARMD. El Kerch et al. (1994) found absence of DAG50 in a muscle biopsy from a patient with SCARMD. No abnormality of this protein was found in a variety of other neuromuscular disorders. Higuchi et al. (1994) noted that alpha-sarcoglycan deficiency had been demonstrated in 1 Greek, 1 Italian, 3 French (Fardeau et al., 1993), and 5 Brazilian (Passos-Bueno et al., 1993) patients with severe muscular dystrophy. They reported for the first time 2 Japanese patients with adhalin deficiency. In addition, they demonstrated abnormal expression of laminin in the basal lamina surrounding muscle fibers, which implicated a disturbance of sarcolemma-extracellular matrix interaction in the molecular pathogenesis of muscle fiber necrosis in these patients. Piccolo et al. (1995) noted that there are 2 kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (LGMDR3; 608099) caused by mutation in the SGCA gene, and those such as SCARMD in which absence of adhalin is secondary to mutation in another gene.
Jung et al. (1996) produced specific antibodies against a gamma-sarcoglycan peptide and used them to examine the expression of this protein in skeletal muscle of patients with SCARMD. Immunofluorescence and Western blotting in skeletal muscle from these patients showed complete absence of gamma-sarcoglycan. Alpha- and beta-sarcoglycan were also greatly reduced, whereas other components of the dystrophin-glycoprotein complex were preserved. In addition, they showed that in normal muscle alpha-, beta-, and gamma-sarcoglycan constituted a tightly associated sarcolemmal complex that could not be disrupted by SDS treatment.
Inheritance
In 3 young girls, Hazama et al. (1979) reported autosomal recessive inheritance of progressive muscular dystrophy.
Goonewardena et al. (1988) used DNA probes to exclude linkage to the X chromosome in 2 brothers with muscular dystrophy. The authors suggested autosomal recessive inheritance of the disorder.
Mapping
Linkage studies by Ben Othmane et al. (1992) using 3 consanguineous families from Tunisia demonstrated that the DMD-like disease locus was situated on chromosome 13p; 2 markers within 13q12 showed a lod score of 9.15 and 8.4 at theta = 0.03. In affected Algerian families, Azibi et al. (1993) confirmed the assignment of the mutant gene to proximal 13q. They identified 57 Algerian patients with the disorder, which they referred to as 'severe childhood autosomal recessive muscular dystrophy' (SCARMD). The patients belonged to 34 families, of which 29 had more than 1 affected member.
El Kerch et al. (1994) found linkage homogeneity to 13q in affected patients from Morocco, Tunisia, and Algeria, 3 Maghreb countries with a high frequency of the disorder. Ben Othmane et al. (1995) found that 6 Tunisian families and 1 Egyptian family with DMD-like muscular dystrophy showed linkage to the pericentromeric region of chromosome 13q (maximum lod score of 9.15 at D13S115). The authors stated that the Egyptian family was the first non-North African family to be linked to the 13q locus.
### Exclusion Mapping
Francke et al. (1989) described 2 families in which a brother and sister were affected with early-onset progressive muscular dystrophy. The dystrophin gene did not appear to be involved in either family. In 1 family, the affected male was found to share the complete dystrophin RFLP haplotype with his unaffected brother, while his affected sister had inherited the other maternal haplotype. In the second family, no deletion of the DMD gene was detected in the affected male who shared a complete Xp21 haplotype with an unaffected sister, while the affected sister had inherited a recombinant Xp21 region. X-inactivation studies showed random inactivation in the affected girl's leukocytes. In a muscle biopsy from the affected male, the dystrophin protein was present in normal amount and size.
Azibi et al. (1991) excluded linkage to the 6q22-q23 region that includes the dystrophin-related protein (128240) in 19 Algerian families with autosomal recessive DMD-like muscular dystrophy.
In a study of 4 Brazilian families with severe childhood autosomal recessive Duchenne-like muscular dystrophy, Passos-Bueno et al. (1993) excluded linkage to markers on 15q which are associated with LGMD2A (LGMDR1; 253600), a milder form of autosomal recessive LGMD with later onset.
Molecular Genetics
In 2 affected sibs from a Tunisian SCARMD family reported by Ben Othmane et al. (1992), Noguchi et al. (1995) identified a homozygous mutation in the SGCG gene (608896.0001). The authors noted that the mutation not only affects gamma-sarcoglycan, but also disrupt the integrity of the entire sarcoglycan complex.
In 4 of 50 muscular dystrophy patients from the U.S. and Italy, McNally et al. (1996) identified 4 homozygous mutations in the SGCG gene (e.g., 608896.0003; 608896.0004; 608896.0006). They predicted that all 4 mutations lead to disruption of the reading frame of the protein. Microdeletions that disrupted the distal C terminus of gamma-sarcoglycan were identified in 2 of the 4 patients. These distal C-terminal deletions resulted in complete absence of gamma- and beta-sarcoglycan. McNally et al. (1996) concluded that this region is important for the stability of the sarcoglycan complex. The 4 patients were partially deficient for alpha-sarcoglycan immunostaining. The authors suggested that a gamma-sarcoglycan antibody should also be used when initially evaluating patients with muscular dystrophy.
Piccolo et al. (1996) identified homozygosity for a mutation (608896.0002) in the SGCG gene in 18 patients with LGMD2C from 7 large LGMD2C Gypsy families who had lived in France, Italy, and Spain for several generations. All affected chromosomes in homozygous and heterozygous relatives carried the same allele ('allele 5') of the intragenic marker D13S232. Piccolo et al. (1996) also delineated a common ancestral haplotype.
Leal and Da-Silva (1999) reported a clinical and molecular analysis of a 5-generation Brazilian family with LGMD2C. Clinical severity varied according to sex, with males having significantly earlier onset of symptoms and age of confinement to a wheelchair. Mutation analysis confirmed that affected individuals had a mutation in the SGCG gene (608896.0001).
Trabelsi et al. (2008) identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB (600900) mutations, and 12 (26%) had SGCG mutations. Five of the 10 SGCG mutations identified were novel.
Population Genetics
Zatz et al. (1989) studied 470 families in which X-linked inheritance of muscular dystrophy could not be confirmed: 20 with at least 1 affected girl with a Duchenne-like phenotype and 450 with only affected boys. Based on the number of families with at least 1 affected girl and the number of patients per sibship in these pedigrees, the proportion of families with DMD inherited as an autosomal recessive trait was estimated at 6.8%. It was also estimated that 2.5 to 4% of isolated male cases of DMD may have the autosomal recessive form.
By analysis of dystrophin in 50 males diagnosed with DMD, Vainzof et al. (1991) estimated that the frequency of autosomal recessive muscular dystrophy may be 8 to 12% among male patients diagnosed with DMD in whom X-linked inheritance could not be definitively established.
Stec et al. (1995) examined a total of 415 families with at least 1 living male patient with clinical features suggesting Duchenne muscular dystrophy. Based on formal genetics, haplotype analysis, and dystrophin determinations, they estimated that 1 in 8 (11.8%) sporadic male patients suffer from an autosomal rather than an X-chromosomal mutation, most often LGMD2C or LGMD2D (LGMDR3; 608099).
Hayashi et al. (1995) performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients with adhalin deficiency manifesting as an extremely faint but positive staining of the sarcolemma similar to that described in the 13q-linked congenital muscular dystrophy prevalent in North Africa. From these data, they predicted the gene frequency for this deficiency in Japan to be between 0.1 and 0.2%, with a prevalence of the deficiency in the Japanese population to be about 1 x 10(-6). In their series, Hayashi et al. (1995) found this deficiency to account for only 4% of patients with DMD/BMD.
Piccolo et al. (1996) identified the C283Y SGCG mutation (608896.0002) as a founder mutation in the Romany Gypsies of Europe, who are believed to have originated from northern Indian populations that arrived in Europe around 1100 A.D. Due to almost complete endogamy, they formed a genetically isolated community. By haplotype analysis, Piccolo et al. (1996) estimated that the C283Y mutation is at least 1,200 years old and predates the migration of the Gypsies out of northern India.
Navarro and Teijeira (2003) provided a detailed review of neuromuscular disorders among the Romany Gypsies.
History
Azibi (1991) referred to this disorder as Maghrebian autosomal recessive myopathy. The Maghreb, meaning 'west' in Arabic, represents the area of North Africa and particularly the coastal plain of Morocco, Algeria, Tunisia and Libya. It was referred to as Africa Minor in ancient times and at one time included Moorish Spain.
Animal Model
Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. Without gamma-sarcoglycan, beta- and delta-sarcoglycan (601411) are unstable at the muscle membrane and alpha-sarcoglycan is severely reduced. The expression and localization of dystrophin, dystroglycan, and laminin-alpha-2 (156225), a mechanical link between the actin cytoskeleton and the extracellular matrix, appear to be unaffected by the loss of sarcoglycan. Hack et al. (1999) assessed the functional integrity of this mechanical link and found that isolated muscles lacking gamma-sarcoglycan showed normal resistance to mechanical strain induced by eccentric muscle contraction. Sarcoglycan-deficient muscles also showed normal peak isometric and tetanic force generation. Furthermore, there was no evidence for contraction-induced injury in mice lacking gamma-sarcoglycan when they were subjected to an extended, rigorous exercise regimen. These findings demonstrated that mechanical weakness and contraction-induced muscle injury are not required for muscle degeneration and the dystrophic process. Thus, Hack et al. (1999) concluded that a nonmechanical mechanism, perhaps involving some unknown signaling function, is likely to be involved in cases of muscular dystrophy in which sarcoglycan is deficient.
In a review, Shelton and Engvall (2005) stated that canine models of sarcoglycanopathies had been reported in the Boston terrier, Cocker spaniel, and Chihuahua breeds. Although specific mutations in sarcoglycan genes had not yet been characterized, all 3 models showed absence of gamma-sarcoglycan in muscle tissue.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Subclinical cardiac involvement in a subset of patients \- Abnormal precordial tall R waves on EKG \- Right ventricular hypertrophy \- Right ventricular dilatation RESPIRATORY Lung \- Restrictive lung disease \- Pneumonia SKELETAL Spine \- Hyperlordosis \- Scoliosis Limbs \- Joint contractures MUSCLE, SOFT TISSUES \- Progressive proximal muscle involvement \- Muscle atrophy \- Calf muscle pseudohypertrophy \- Unstable gait \- Gowers sign \- Loss of independent ambulation around age 12 years \- Muscle biopsy shows dystrophic pattern \- Patchy muscle fiber degeneration \- Muscle fiber necrosis \- Absence of gamma-sarcoglycan protein \- Normal dystrophin immunostaining LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Onset 1-12 years \- Rapid progression \- Prevalent in North Africa \- Wheelchair use by 10-30 years MOLECULAR BASIS \- Caused by mutation in the gamma sarcoglycan gene (SGCG, 253700.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 | c0410173 | 28,879 | omim | https://www.omim.org/entry/253700 | 2019-09-22T16:24:54 | {"doid": ["0110277"], "mesh": ["C535900"], "omim": ["253700"], "orphanet": ["353"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C", "MUSCULAR DYSTROPHY, DUCHENNE-LIKE", "DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1", "DMDA", "ADHALIN DEFICIENCY, SECONDARY", "SARCOGLYCAN, GAMMA, DEFICIENCY OF", "SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPE", "MAGHREBIAN MYOPATHY"]} |
Oculofaciocardiodental syndrome
This condition is inherited in an X-linked dominant manner.
SpecialtyMedical genetics
Oculofaciocardiodental syndrome is a rare X-linked dominant genetic disorder.[1]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 History
* 6 References
## Presentation[edit]
The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome.
Typical features of the condition include:
* Face
* Deep set eyes
* Broad nasal tip divided by a cleft
* Eyes
* Microphthalmia (small eyes)
* Early cataracts
* Glaucoma
* Teeth
* Radiculomegaly (teeth with very large roots)
* Delayed loss of primary teeth
* Missing (oligodontia) or abnormally small teeth
* Misaligned teeth
* Defective tooth enamel
* Heart defects
* Atrial and/or ventricular defects
* Mitral valve prolapse
* Mild mental retardation and conductive or sensorineural hearing loss may occur.
## Genetics[edit]
This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor, but little is currently known about its function. The inheritance is X-linked dominant.
A genetically related disorder is Lenz microphthalmia syndrome.[2]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (December 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (December 2017)
## History[edit]
The first features of this syndrome noted were the abnormal teeth, which were described by Hayward in 1980.[3]
## References[edit]
1. ^ Surapornsawasd T, Ogawa T, Tsuji M, Moriyama K (June 2014). "Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells". J. Hum. Genet. 59 (6): 314–20. doi:10.1038/jhg.2014.24. PMID 24694763.
2. ^ Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, et al. (March 2014). "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome". J. Med. Genet. 51 (3): 185–96. doi:10.1136/jmedgenet-2013-101660. PMC 4278941. PMID 24431331.
3. ^ Hayward JR (June 1980). "Cuspid gigantism". Oral Surg. Oral Med. Oral Pathol. 49 (6): 500–1. doi:10.1016/0030-4220(80)90070-5. PMID 6930070.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Oculofaciocardiodental syndrome | c1846265 | 28,880 | wikipedia | https://en.wikipedia.org/wiki/Oculofaciocardiodental_syndrome | 2021-01-18T18:58:42 | {"gard": ["4628"], "mesh": ["C537465"], "icd-10": ["Q87.8"], "orphanet": ["2712"], "wikidata": ["Q1530812"]} |
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital isolated ACTH deficiency | c0271583 | 28,881 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199296 | 2021-01-23T17:04:41 | {"gard": ["5727"], "mesh": ["C562707"], "omim": ["201400"], "icd-10": ["E23.6"]} |
Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Benign childhood occipital epilepsy, Gastaut type | None | 28,882 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98816 | 2021-01-23T19:05:24 | {"icd-10": ["G40.0"], "synonyms": ["Late-onset benign childhood occipital epilepsy"]} |
Using a 4.5 kb segment of single-copy DNA from a human genomic library as a hybridization probe of genomic human DNA, Page et al. (1982) found allelic Taq I restriction fragments 10.6, 11.8, and 14.6 kb long. Among 12 unrelated persons, all 6 males showed the 14.6 kb fragment in addition to one of the other fragments. Of the females, 3 showed 10.6 and 11.8 kb fragments and 3 showed only one fragment length; no female had the 14.6 kb fragment. In human-rodent somatic cell hybrids, the 14.6 kb fragment segregated with the human X chromosome. Study of 48 members of a single kindred showed Y-linkage of the 10.6 and 11.8 kb fragments. Thus, homology of single-copy sequences on the X and Y is demonstrated. It will be of great interest to know whether the TAQ1 'locus' is, as one might predict, on Xp and Yp.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| TaqI POLYMORPHISM | c1839238 | 28,883 | omim | https://www.omim.org/entry/313480 | 2019-09-22T16:17:13 | {"omim": ["313480"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (October 2009) (Learn how and when to remove this template message)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Encopresis" – news · newspapers · books · scholar · JSTOR (October 2009) (Learn how and when to remove this template message)
(Learn how and when to remove this template message)
Encopresis
Other namesParadoxical diarrhea
SpecialtyPsychiatry, pediatrics
Encopresis is voluntary or involuntary passage of feces outside of toilet trained contexts (fecal soiling) in children who are four years or older and after an organic cause has been excluded.[1] Children with encopresis often leak stool into their undergarments.
This term is usually applied to children, and where the symptom is present in adults, it is more commonly known as fecal leakage (FL), fecal soiling or fecal seepage.[2] The term is from the Ancient Greek ἐγκόπρησις / egkóprēsis.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
* (In)voluntary soiling of undergarments. There are two types: with or without constipation.[3] Those with constipation may experience decreased appetite, abdominal pain, have pain on defecation, have fewer bowel movements, and have hard or soft stools. [4] Those without constipation do not have these symptoms.[5]
## Causes[edit]
Encopresis is commonly caused by constipation, by reflexive withholding of stool, by various physiological, psychological, or neurological disorders, or from surgery (a somewhat rare occurrence).
The colon normally removes excess water from feces. If the feces or stool remains in the colon too long due to conditioned withholding or incidental constipation, so much water is removed that the stool becomes hard, and becomes painful for the child to expel in an ordinary bowel movement. A vicious cycle can develop, where the child may avoid moving his/her bowels in order to avoid the "expected" painful toilet episode. This cycle can result in so deeply conditioning the holding response that the rectal anal inhibitory response (RAIR) or anismus results. The RAIR has been shown to occur even under anesthesia and when voluntary control is lost. The hardened stool continues to build up and stretches the colon or rectum to the point where the normal sensations associated with impending bowel movements do not occur. Eventually, softer stool leaks around the blockage and cannot be withheld by the anus, resulting in soiling. The child typically has no control over these leakage accidents, and may not be able to feel that they have occurred or are about to occur due to the loss of sensation in the rectum and the RAIR. Strong emotional reactions typically result from failed and repeated attempts to control this highly aversive bodily product. These reactions then in turn may complicate conventional treatments using stool softeners, sitting demands, and behavioral strategies.
The onset of encopresis is most often benign. The usual onset is associated with toilet training, demands that the child sit for long periods of time, and intense negative parental reactions to feces. Beginning school or preschool is another major environmental trigger with shared bathrooms. Feuding parents, siblings, moving, and divorce can also inhibit toileting behaviors and promote constipation. An initiating cause may become less relevant as chronic stimuli predominate.
## Diagnosis[edit]
The psychiatric (DSM-IV) diagnostic criteria for encopresis are:
1. Repeated passage of feces into inappropriate places (e.g., underwear or floor) whether voluntary or unintentional
2. At least one such event a month for at least 3 months
3. Chronological age of at least 4 years (or equivalent developmental level)
4. The behavior is not exclusively due to a physiological effect of a substance (e.g., laxatives) or a general medical condition, except through a mechanism involving constipation.
The DSM-IV recognizes two subtypes: with constipation and overflow incontinence, and without constipation and overflow incontinence. In the subtype with constipation, the feces are usually poorly formed and leakage is continuous, and this occurs both during sleep and waking hours. In the type without constipation, the feces are usually well-formed, soiling is intermittent, and feces are usually deposited in a prominent location. This form may be associated with oppositional defiant disorder (ODD) or conduct disorder, or may be the consequence of large anal insertions, or more likely due to chronic encopresis that has radically desensitized the colon and anus.
## Treatment[edit]
Many pediatricians will recommend the following three-pronged approach to the treatment of encopresis associated with constipation:
1. cleaning out
2. using stool softening agents
3. scheduled sitting times, typically after meals
The initial clean-out is achieved with enemas, laxatives, or both. The predominant approach today is the use of oral stool softeners like Movicol, Miralax, Lactulose, mineral oil, etc. Following that, enemas and laxatives are used daily to keep the stools soft and allow the stretched bowel to return to its normal size.
The child must be taught to use the toilet regularly to retrain his/her body. It is usually recommended that a child be required to sit on the toilet at a regular time each day and 'try' to go for 10–15 minutes, usually soon (or immediately) after eating. Children are more likely to be able to expel a bowel movement right after eating. It is thought that creating a regular schedule of bathroom time will allow the child to achieve a proper elimination pattern. Repeated voiding success on the toilet itself helps it become a releasor stimulus for successful bowel movements.
Alternatively, when this method fails for six months or longer, a more aggressive approach may be undertaken using suppositories and enemas in a carefully programmed way to overcome the reflexive holding response and to allow the proper voiding reflex to take over. Failure to establish a normal bowel habit can result in permanent stretching of the colon. Certainly, allowing this problem to continue for years with constant assurances that the child "will grow out of it" should be avoided.
Dietary changes are an important management element. Recommended changes to the diet in the case of constipation-caused encopresis include:
1. reduction in the intake of constipating foods such as dairy, peanuts, cooked carrots, and bananas
2. increase in high-fiber foods such as bran, whole wheat products, fruits, and vegetables
3. higher intake of water and liquids, such as juices, although an increased risk of tooth decay has been attributed to excess intake of sweetened juices
4. limit drinks with caffeine, including cola drinks and tea
5. provide well-balanced meals and snacks, and limit fast foods/junk foods that are high in fats and sugars
6. limit whole milk to 500 mL (16.9 ounces) a day for the child over 2 years of age, but do not completely eliminate milk because children need calcium for bone growth and strength.[citation needed]
The standard behavioral treatment for functional encopresis, which has been shown to be highly effective, is a motivational system such as a contingency management system.[6] In addition to this basic component, seven or eight other behavioral treatment components can be added to increase effectiveness.[7]
## Epidemiology[edit]
The estimated prevalence of encopresis in four-year-olds is between one and three percent.[8] The disorder is thought to be more common in males than females, by a factor of 6 to 1.
## References[edit]
* Medicine portal
1. ^ von Gontard A. Encopresis. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions 2012.
2. ^ Senior editors Bruce G. Wolff; et al. (2007). The ASCRS textbook of colon and rectal surgery. New York: Springer. ISBN 978-0387248462.
3. ^ "Encopresis". Mayo Clinic. Retrieved 14 October 2020.
4. ^ von Gontard A. Encopresis. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions 2012.
5. ^ von Gontard A. Encopresis. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions 2012.
6. ^ Patrick C. Friman, Kristi L. Hofstadter and Kevin M. Jones (2006): A Biobehavioral Approach to the Treatment of Functional Encopresis in Children. JEIBI 3 (3), page 263–272 BAO.
7. ^ Patrick C. Friman, Kristi L. Hofstadter and Kevin M. Jones (2006): A Biobehavioral Approach to the Treatment of Functional Encopresis in Children. JEIBI 3 (3), page 263–272. BAO.
8. ^ von Gontard, Alexander (1999). "Encopresis". The Practitioner. Prax Kinderpsychol Kinderpsychiatr. 243 (1602): 644, 648–52. PMID 10715861.
## External links[edit]
Classification
D
* ICD-10: R15 F98.1
* ICD-9-CM: 307.7, 787.6
* MeSH: D004688
* DiseasesDB: 4221
External resources
* MedlinePlus: 001570
* eMedicine: ped/670
* v
* t
* e
Symptoms and signs relating to the human digestive system or abdomen
Gastrointestinal
tract
* Nausea
* Vomiting
* Heartburn
* Aerophagia
* Pagophagia
* Dysphagia
* oropharyngeal
* esophageal
* Odynophagia
* Bad breath
* Xerostomia
* Hypersalivation
* Burping
* Wet burp
* Goodsall's rule
* Chilaiditi syndrome
* Dance's sign
* Aaron's sign
* Arapov's sign
* Markle sign
* McBurney's point
* Sherren's triangle
* Radiologic signs: Hampton's line
* Klemm's sign
Accessory
* liver: Councilman body
* Mallory body
* biliary: Boas' sign
* Courvoisier's law
* Charcot's cholangitis triad/Reynolds' pentad
* cholecystitis (Murphy's sign
* Lépine's sign
* Mirizzi's syndrome)
* Nardi test
Defecation
* Flatulence
* Fecal incontinence
* Encopresis
* Fecal occult blood
* Rectal tenesmus
* Constipation
* Obstructed defecation
* Diarrhea
* Rectal discharge
* Psoas sign
* Obturator sign
* Rovsing's sign
* Hamburger sign
* Heel tap sign
* Aure-Rozanova's sign
* Dunphy sign
* Alder's sign
* Lockwood's sign
* Rosenstein's sign
Abdomen
Pain
* Abdominal pain
* Acute abdomen
* Colic
* Baby colic
* Abdominal guarding
* Blumberg sign
Distension
* Abdominal distension
* Bloating
* Ascites
* Tympanites
* Shifting dullness
* Ascites
* Fluid wave test
Masses
* Abdominal mass
* Hepatosplenomegaly
* Hepatomegaly
* Splenomegaly
Other
* Jaundice
* Mallet-Guy sign
* Puddle sign
* Ballance's sign
* Aortic insufficiency
* Castell's sign
* Kehr's sign
* Cullen's sign
* Grey Turner's sign
Hernia
* Howship–Romberg sign
* Hannington-Kiff sign
Other
* Cupola sign
* Fothergill's sign
* Carnett's sign
* Sister Mary Joseph nodule
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Encopresis | c0014089 | 28,884 | wikipedia | https://en.wikipedia.org/wiki/Encopresis | 2021-01-18T18:47:18 | {"mesh": ["D004688"], "icd-9": ["307.7", "787.6"], "icd-10": ["F98.1", "R15"], "wikidata": ["Q653027"]} |
Dermoodontodysplasia is dental problems, trichodysplasia, and nail and skin problems.[1]
## References[edit]
1. ^ Pinheiro M, Gomes-de-Sá-Filho FP, Freire-Maia N (June 1990). "New cases of dermoodontodysplasia?". Am. J. Med. Genet. 36 (2): 161–6. doi:10.1002/ajmg.1320360207. PMID 2368802.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dermoodontodysplasia | c1852144 | 28,885 | wikipedia | https://en.wikipedia.org/wiki/Dermoodontodysplasia | 2021-01-18T18:55:46 | {"gard": ["1816"], "mesh": ["C565103"], "umls": ["C1852144"], "orphanet": ["1660"], "wikidata": ["Q5262785"]} |
Endothrix refers to dermatophyte infections of the hair that invade the hair shaft and internalize into the hair cell. This is in contrast to exothrix (ectothrix), where a dermatophyte infection remains confined to the hair surface. Using an ultraviolet Wood's lamp, endothrix infections will not fluoresce whereas some exothrix infections may fluoresce bright green or yellow-green.
## References[edit]
James, William; Timothy Berger; Dirk Elston (2006). Andrews' Diseases of the Skin Clinical Dermatology, Tenth Edition. Saunders/Elsevier. p. 299. ISBN 0-7216-2921-0.
* v
* t
* e
Fungal infection and mesomycetozoea
Superficial and
cutaneous
(dermatomycosis):
Tinea = skin;
Piedra (exothrix/
endothrix) = hair
Ascomycota
Dermatophyte
(Dermatophytosis)
By location
* Tinea barbae/tinea capitis
* Kerion
* Tinea corporis
* Ringworm
* Dermatophytids
* Tinea cruris
* Tinea manuum
* Tinea pedis (athlete's foot)
* Tinea unguium/onychomycosis
* White superficial onychomycosis
* Distal subungual onychomycosis
* Proximal subungual onychomycosis
* Tinea corporis gladiatorum
* Tinea faciei
* Tinea imbricata
* Tinea incognito
* Favus
By organism
* Epidermophyton floccosum
* Microsporum canis
* Microsporum audouinii
* Trichophyton interdigitale/mentagrophytes
* Trichophyton tonsurans
* Trichophyton schoenleini
* Trichophyton rubrum
* Trichophyton verrucosum
Other
* Hortaea werneckii
* Tinea nigra
* Piedraia hortae
* Black piedra
Basidiomycota
* Malassezia furfur
* Tinea versicolor
* Pityrosporum folliculitis
* Trichosporon
* White piedra
Subcutaneous,
systemic,
and opportunistic
Ascomycota
Dimorphic
(yeast+mold)
Onygenales
* Coccidioides immitis/Coccidioides posadasii
* Coccidioidomycosis
* Disseminated coccidioidomycosis
* Primary cutaneous coccidioidomycosis. Primary pulmonary coccidioidomycosis
* Histoplasma capsulatum
* Histoplasmosis
* Primary cutaneous histoplasmosis
* Primary pulmonary histoplasmosis
* Progressive disseminated histoplasmosis
* Histoplasma duboisii
* African histoplasmosis
* Lacazia loboi
* Lobomycosis
* Paracoccidioides brasiliensis
* Paracoccidioidomycosis
Other
* Blastomyces dermatitidis
* Blastomycosis
* North American blastomycosis
* South American blastomycosis
* Sporothrix schenckii
* Sporotrichosis
* Talaromyces marneffei
* Talaromycosis
Yeast-like
* Candida albicans
* Candidiasis
* Oral
* Esophageal
* Vulvovaginal
* Chronic mucocutaneous
* Antibiotic candidiasis
* Candidal intertrigo
* Candidal onychomycosis
* Candidal paronychia
* Candidid
* Diaper candidiasis
* Congenital cutaneous candidiasis
* Perianal candidiasis
* Systemic candidiasis
* Erosio interdigitalis blastomycetica
* C. auris
* C. glabrata
* C. lusitaniae
* C. tropicalis
* Pneumocystis jirovecii
* Pneumocystosis
* Pneumocystis pneumonia
Mold-like
* Aspergillus
* Aspergillosis
* Aspergilloma
* Allergic bronchopulmonary aspergillosis
* Primary cutaneous aspergillosis
* Exophiala jeanselmei
* Eumycetoma
* Fonsecaea pedrosoi/Fonsecaea compacta/Phialophora verrucosa
* Chromoblastomycosis
* Geotrichum candidum
* Geotrichosis
* Pseudallescheria boydii
* Allescheriasis
Basidiomycota
* Cryptococcus neoformans
* Cryptococcosis
* Trichosporon spp
* Trichosporonosis
Zygomycota
(Zygomycosis)
Mucorales
(Mucormycosis)
* Rhizopus oryzae
* Mucor indicus
* Lichtheimia corymbifera
* Syncephalastrum racemosum
* Apophysomyces variabilis
Entomophthorales
(Entomophthoramycosis)
* Basidiobolus ranarum
* Basidiobolomycosis
* Conidiobolus coronatus/Conidiobolus incongruus
* Conidiobolomycosis
Microsporidia
(Microsporidiosis)
* Enterocytozoon bieneusi/Encephalitozoon intestinalis
Mesomycetozoea
* Rhinosporidium seeberi
* Rhinosporidiosis
Ungrouped
* Alternariosis
* Fungal folliculitis
* Fusarium
* Fusariosis
* Granuloma gluteale infantum
* Hyalohyphomycosis
* Otomycosis
* Phaeohyphomycosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Endothrix | None | 28,886 | wikipedia | https://en.wikipedia.org/wiki/Endothrix | 2021-01-18T18:34:37 | {"wikidata": ["Q5376444"]} |
Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Chromosome 5p duplication | c2931575 | 28,887 | gard | https://rarediseases.info.nih.gov/diseases/6093/chromosome-5p-duplication | 2021-01-18T18:01:21 | {"mesh": ["C537648"], "umls": ["C2931575"], "orphanet": ["1742"], "synonyms": ["Duplication 5p", "Trisomy 5p", "5p duplication", "5p trisomy", "Partial trisomy 5p"]} |
Gastroparesis
Other namesdelayed gastric emptying
Pronunciation
* (/,ɡæstroʊ,pəˈriːsɪs/)[1]
SpecialtyGastroenterology
SymptomsNausea, vomiting, abdominal pain, feeling full after eating just a few bites
ComplicationsMalnutrition, underweight, bowel obstruction, small intestine bacterial overgrowth
Frequencypossibly up to 4%
Gastroparesis (gastro- from Ancient Greek γαστήρ - gaster, "stomach"; and -paresis, πάρεσις - "partial paralysis"), also called delayed gastric emptying, is a medical disorder consisting of weak muscular contractions (peristalsis) of the stomach, resulting in food and liquid remaining in the stomach for a prolonged period of time. Stomach contents thus exit more slowly into the duodenum of the digestive tract. This can result in irregular absorption of nutrients, inadequate nutrition, and poor glycemic control.[2][3]
Symptoms include nausea, vomiting, abdominal pain, feeling full soon after beginning to eat (early satiety), abdominal bloating, and heartburn. The most common known mechanism is autonomic neuropathy of the nerve which innervates the stomach: the vagus nerve. Uncontrolled diabetes mellitus is a major cause of this nerve damage; other causes include post-infectious and trauma to the vagus nerve.
Diagnosis is via one or more of the following: barium swallow X-ray, barium beefsteak meal, radioisotope gastric-emptying scan, gastric manometry, and esophagogastroduodenoscopy (EGD). Complications include malnutrition, fatigue, weight loss, vitamin deficiencies, intestinal obstruction due to bezoars, and small intestine bacterial overgrowth.
Treatment includes dietary modifications, medications to stimulate gastric emptying, medications to reduce vomiting, and surgical approaches.[4] The prognosis in children, in idiopathic gastroparesis in adults, and in post-infectious is the likelihood of complete recovery; in diabetic gastroparesis it is more likely to be slowly progressive and even fatal. The prevalence of post-infectious gastroparesis is up to 4% of the population; up to 90% are young women.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 5 Complications
* 6 Treatment
* 7 Prognosis
* 7.1 Post-infectious
* 7.2 Diabetic gastropathy
* 8 Prevalence
* 9 References
* 10 Further reading
* 11 External links
## Signs and symptoms[edit]
The most common symptoms of gastroparesis are the following:[5]
* Chronic nausea
* Vomiting (especially of undigested food)
* Abdominal pain
* A feeling of fullness after eating just a few bites
Other symptoms include the following:
* Abdominal bloating
* Body aches (myalgia)
* Erratic blood glucose levels
* Acid reflux (GERD)
* Heartburn
* Lack of appetite
* Morning nausea
* Muscle weakness
* Night sweats
* Palpitations
* Spasms of the stomach wall
* Constipation or infrequent bowel movements
* Weight loss, malnutrition
Vomiting may not occur in all cases, as sufferers may adjust their diets to include only small amounts of food.[6]
## Causes[edit]
Transient gastroparesis may arise in acute illness of any kind, as a consequence of certain cancer treatments or other drugs which affect digestive action, or due to abnormal eating patterns. The symptoms are almost identical to those of low stomach acid, therefore most doctors will usually recommend trying out supplemental hydrochloric acid before moving on to the invasive procedures required to confirm a damaged nerve.[7] Patients with cancer may develop gastroparesis because of chemotherapy-induced neuropathy, immunosuppression followed by viral infections involving the GI tract, procedures such as celiac blocks, paraneoplastic neuropathy or myopathy, or after an allogeneic bone marrow transplant via graft-versus-host disease.[8]
Gastroparesis present similar symptoms to slow gastric emptying caused by certain opioid medications, antidepressants, and allergy medications, along with high blood pressure. For patients already with gastroparesis, these can make the condition worse.[9] More than 50% of all gastroparesis cases are idiopathic in nature, with unknown causes. It is, however, frequently caused by autonomic neuropathy. This may occur in people with type 1 or type 2 diabetes, about 30-50% among long-standing diabetics.[10] In fact, diabetes mellitus has been named as the most common cause of gastroparesis, as high levels of blood glucose may effect chemical changes in the nerves.[11] The vagus nerve becomes damaged by years of high blood glucose or insufficient transport of glucose into cells resulting in gastroparesis.[12] Adrenal and thyroid gland problems could also be a cause.[13]
Gastroparesis has also been associated with connective tissue diseases such as scleroderma and Ehlers–Danlos syndrome, and neurological conditions such as Parkinson's disease and multiple system atrophy.[14] It may occur as part of a mitochondrial disease. Opioids and anticholinergic medications can cause medication-induced gastroparesis. Chronic gastroparesis can be caused by other types of damage to the vagus nerve, such as abdominal surgery.[15] Heavy cigarette smoking is also a plausible cause since smoking causes damage to the stomach lining. Idiopathic gastroparesis (gastroparesis with no known cause) accounts for a third of all chronic cases; it is thought that many of these cases are due to an autoimmune response triggered by an acute viral infection.[12] Gastroenteritis, mononucleosis, and other ailments have been anecdotally linked to the onset of the condition, but no systematic study has proven a link.[citation needed]
Gastroparesis sufferers are disproportionately female. One possible explanation for this finding is that women have an inherently slower stomach emptying time than men.[16] A hormonal link has been suggested, as gastroparesis symptoms tend to worsen the week before menstruation when progesterone levels are highest.[6] Neither theory has been proven definitively.
## Mechanism[edit]
Gastroparesis can be connected to hypochlorhydria and be caused by chloride, sodium and/or zinc deficiency,[17] as these minerals are needed for the stomach to produce adequate levels of gastric acid (HCl) to properly empty itself of a meal.
On the molecular level, it is thought that gastroparesis can be caused by the loss of neuronal nitric oxide expression since the cells in the GI tract secrete nitric oxide. This important signaling molecule has various responsibilities in the GI tract and in muscles throughout the body. When nitric oxide levels are low, the smooth muscle and other organs may not be able to function properly.[18] Other important components of the stomach are the interstitial cells of Cajal (ICC) which act as a pacemaker since they transduce signals from motor neurons to produce an electrical rhythm in the smooth muscle cells.[19] Lower nitric oxide levels also correlate with loss of ICC cells, which can ultimately lead to the loss of function in the smooth muscle in the stomach, as well as in other areas of the gastrointestinal tract.[18]
Pathogenesis of symptoms in diabetic gastroparesis include:
* Loss of gastric neurons containing nitric oxide synthase (NOS) is responsible for defective accommodation reflex, which leads to early satiety and postprandial fullness.[10]
* Impaired electromechanical activity in the myenteric plexus is responsible for delayed gastric emptying, resulting in nausea and vomiting.[10]
* Sensory neuropathy in the gastric wall may be responsible for epigastric pain.[10]
* Abnormal pacemaker activity (tachybradyarrhythmia) may generate a noxious signal transmitted to the CNS to evoke nausea and vomiting.[10]
## Diagnosis[edit]
Gastroparesis can be diagnosed with tests such as barium swallow X-rays, manometry, and gastric emptying scans.[20] For the X-ray, the patient drinks a liquid containing barium after fasting which will show up in the X-ray and the physician is able to see if there is still food in the stomach as well. This can be an easy way to identify whether the patient has delayed emptying of the stomach.[21] The clinical definition for gastroparesis is based solely on the emptying time of the stomach (and not on other symptoms), and severity of symptoms does not necessarily correlate with the severity of gastroparesis. Therefore, some patients may have marked gastroparesis with few, if any, serious complications.[citation needed]
In other cases or if the X-ray is inconclusive, the physician may have the patient eat a meal of toast, water, and eggs containing a radioactive isotope so they can watch as it is digested and see how slowly the digestive tract is moving. This can be helpful for diagnosing patients who are able to digest liquids but not solid foods.[21]
## Complications[edit]
Complications of gastroparesis include:
* Fluctuations in blood glucose due to unpredictable digestion times due to changes in rate and amount of food passing into the small bowel. This makes diabetes worse, but does not cause diabetes. Lack of control of blood sugar levels will make the gastroparesis worsen.[22]
* General malnutrition due to the symptoms of the disease (which frequently include vomiting and reduced appetite) as well as the dietary changes necessary to manage it. This is especially true for vitamin deficiencies such as scurvy because of inability to tolerate fresh fruits.[23]
* Severe fatigue and weight loss due to calorie deficit[22]
* Intestinal obstruction due to the formation of bezoars (solid masses of undigested food). This can cause nausea and vomiting, which can in turn be life threatening if they prevent food from passing the small intestine.[22]
* Small intestine bacterial overgrowth is commonly found in patients with gastroparesis.[24]
* Bacterial infection due to overgrowth in undigested food[22]
* A decrease in quality of life, since it can make keeping up with work and other responsibilities more difficult.[22]
## Treatment[edit]
Treatment includes dietary modifications, medications to stimulate gastric emptying, medications to reduce vomiting, and surgical approaches.[4]
Dietary treatment involves low fiber diets and, in some cases, restrictions on fat and/or solids. Eating smaller meals, spaced two to three hours apart has proved helpful. Avoiding foods like rice or beef that cause the individual problems such as pain in the abdomen or constipation will help avoid symptoms.[25]
Metoclopramide, a dopamine D2 receptor antagonist, increases contractility and resting tone within the GI tract to improve gastric emptying.[26] In addition, dopamine antagonist action in the central nervous system prevents nausea and vomiting.[27] Similarly, the dopamine receptor antagonist domperidone is used to treat gastroparesis. Erythromycin is known to improve emptying of the stomach but its effects are temporary due to tachyphylaxis and wane after a few weeks of consistent use. Sildenafil citrate, which increases blood flow to the genital area in men, is being used by some practitioners to stimulate the gastrointestinal tract in cases of diabetic gastroparesis.[28] The antidepressant mirtazapine has proven effective in the treatment of gastroparesis unresponsive to conventional treatment.[29] This is due to its antiemetic and appetite stimulant properties. Mirtazapine acts on the same serotonin receptor (5-HT3) as does the popular anti-emetic ondansetron.[30] Camicinal is a motilin agonist for the treatment of gastroparesis.
In specific cases where treatment of chronic nausea and vomiting proves resistant to drugs, implantable gastric stimulation may be utilized. A medical device is implanted that applies neurostimulation to the muscles of the lower stomach to reduce the symptoms. This is only done in refractory cases that have failed all medical management (usually at least two years of treatment).[25] Medically refractory gastroparesis may also be treated with a pyloromyotomy, which widens the gastric outlet by cutting the circular pylorus muscle. This can be done laparoscopically or endoscopically. Vertical sleeve gastrectomy, a procedure in which a part or all of the affected portion of the stomach is removed, has been shown to have some success in the treatment of gastroparesis in obese patients, even curing it in some instances. Further studies have been recommended due to the limited sample size of previous studies.[31][32]
In cases of postinfectious gastroparesis, patients have symptoms and go undiagnosed for an average of 3 weeks to 6 months before their illness is identified correctly and treatment begins.[citation needed]
## Prognosis[edit]
### Post-infectious[edit]
Most cases of post-infectious gastroparesis are self‐limiting, with recovery within 12 months of initial symptoms, although some cases last well over 2 years. In children, the duration tends to be shorter and the disease course milder than in adolescent and adults.[4]
### Diabetic gastropathy[edit]
Diabetic gastropathy is usually slowly progressive, and can become severe and lethal.
## Prevalence[edit]
Post-infectious gastroparesis, which constitutes the majority of idiopathic gastroparesis cases, affects up to 4% of the American population. Women in their 20s and 30s seem to be susceptible. One study of 146 American gastroparesis patients found the mean age of patients was 34 years with 82% affected being women, while another study found the patients were young or middle aged and up to 90% were women.[4]
There has only been one true epidemiological study of idiopathic gastroparesis which was completed by the Rochester Epidemiology Project. They looked at patients from 1996-2006 who were seeking medical attention instead of a random population sample and found that the prevalence of delayed gastric emptying was four fold higher in women. It is difficult for medical professionals and researchers to collect enough data and provide accurate numbers since studying gastroparesis requires specialized laboratories and equipment.[33]
## References[edit]
1. ^ "How to pronounce gastroparesis in English". dictionary.cambridge.org.
2. ^ . In: Simpson, Kathleen Rice, Creehan, Patricia A. eds. AWHONN's Perinatal Nursing. 4th Edition. 530 Walnut Street, Philadelphia, PA 19106 USA:Lippincott Williams & Wilkins; 2014. Available from: Books@Ovid at http://ovidsp.ovid.com. Accessed November 09, 2020.
3. ^ Fuglsang, J., & Ovesen, P. R. (2015). Pregnancy and delivery in a woman with type 1 diabetes, gastroparesis, and a gastric neurostimulator. Diabetes Care, 38(5), e75. doi:10.2337/dc14-2959
4. ^ a b c d Thorn AR (March 2010). "Not just another case of nausea and vomiting: a review of postinfectious gastroparesis". Journal of the American Academy of Nurse Practitioners. 22 (3): 125–33. doi:10.1111/j.1745-7599.2009.00485.x. PMID 20236395.
5. ^ "Gastroparesis: Symptoms". MayoClinic.com. 2012-01-04. Retrieved 2012-10-09.
6. ^ a b "Summary for Oley Foundation by R. W. McCallum, MD". Oley.org. Archived from the original on 2005-12-12. Retrieved 2012-10-09.[unreliable medical source?]
7. ^ "10 Ways to Improve Stomach Acid Levels". DrJockers.com. 19 January 2016.
8. ^ Davis, Mellar P.; Weller, Renee; Regel, Sally (2018), MacLeod, Roderick Duncan; van den Block, Lieve (eds.), "Gastroparesis and Cancer-Related Gastroparesis", Textbook of Palliative Care, Springer International Publishing, pp. 1–15, doi:10.1007/978-3-319-31738-0_114-1, ISBN 978-3-319-31738-0
9. ^ "Overview".
10. ^ a b c d e Owyang, Chung (2011-10-01). "Phenotypic Switching in Diabetic Gastroparesis: Mechanism Directs Therapy". Gastroenterology. 141 (4): 1134–1137. doi:10.1053/j.gastro.2011.08.014. ISSN 0016-5085. PMID 21875587.
11. ^ "Spotlight on gastroparesis," unauthored article, Balance (magazine of Diabetes UK, no. 246, May–June 2012, p. 43.
12. ^ a b "Gastroparesis Causes – Mayo Clinic".
13. ^ "Gastroparesis". Jackson Siegelbaum Gastroenterology. 2011-11-08. Retrieved 2019-11-06.
14. ^ "Gastroparesis – Your Guide to Gastroparesis – Causes of Gastroparesis". Heartburn.about.com. Retrieved 2012-02-10.
15. ^ "Gastroparesis: Causes". MayoClinic.com. 2012-01-04. Retrieved 2012-10-09.
16. ^ "Epocrates article, registration required". Online.epocrates.com. Retrieved 2012-10-09.
17. ^ Kohli, Divyanshoo; Majithia, Raj; Shocket, David I; Finelli, Frederick; Koch, Timothy (October 2012). "The Potential Role of Niacin in the Development of Indeterminant Colitis After Bariatric Surgery". American Journal of Gastroenterology. 107: S233. doi:10.14309/00000434-201210001-00561. ISSN 0002-9270.
18. ^ a b Oh JH, Pasricha PJ (January 2013). "Recent advances in the pathophysiology and treatment of gastroparesis". Journal of Neurogastroenterology and Motility. 19 (1): 18–24. doi:10.5056/jnm.2013.19.1.18. PMC 3548121. PMID 23350043.
19. ^ Al-Shboul OA (2013). "The importance of interstitial cells of cajal in the gastrointestinal tract". Saudi Journal of Gastroenterology. 19 (1): 3–15. doi:10.4103/1319-3767.105909. PMC 3603487. PMID 23319032.
20. ^ "Gastroparesis Tests and diagnosis – Mayo Clinic".
21. ^ a b "Gastroparesis". American Diabetes Association. Retrieved 2018-09-08.
22. ^ a b c d e "Gastroparesis Complications – Mayo Clinic".
23. ^ Lisa Sanders MD "Diagnosis" NY Times Magazine 3.4.18 p.16-18.
24. ^ Bharadwaj S, Meka K, Tandon P, Rathur A, Rivas JM, Vallabh H, Jevenn A, Guirguis J, Sunesara I, Nischnick A, Ukleja A (May 2016). "Management of gastroparesis-associated malnutrition". Journal of Digestive Diseases. 17 (5): 285–94. doi:10.1111/1751-2980.12344. PMID 27111029.
25. ^ a b "Treatment Options for Gastroparesis". Medtronic.com. Medtronic. 29 September 2014. Retrieved 9 March 2016.
26. ^ "Metochlopramide Hydrochloride". Monograph. The American Society of Health-System Pharmacists. Retrieved 23 March 2016.
27. ^ Rang, H. P.; Dale, M. M.; Ritter, J. M.; Moore, P. K. (2003). Pharmacology (5th ed.). Edinburgh: Churchill Livingstone. ISBN 0-443-07145-4.[page needed]
28. ^ Gottlieb S (August 2000). "Sildenafil may help diabetic patients". BMJ. 321 (7258): 401A. PMC 1127789. PMID 10938040.
29. ^ Kundu S, Rogal S, Alam A, Levinthal DJ (June 2014). "Rapid improvement in post-infectious gastroparesis symptoms with mirtazapine". World Journal of Gastroenterology. 20 (21): 6671–4. doi:10.3748/wjg.v20.i21.6671. PMC 4047357. PMID 24914393.
30. ^ Kim SW, Shin IS, Kim JM, Kang HC, Mun JU, Yang SJ, Yoon JS (2006). "Mirtazapine for severe gastroparesis unresponsive to conventional prokinetic treatment". Psychosomatics. 47 (5): 440–2. doi:10.1176/appi.psy.47.5.440. PMID 16959934.
31. ^ Samuel, Bankole; Atiemo, Kofi; Cohen, Phillip; Czerniach, Donald; Kelly, John; Perugini, Richard (2016). "The Effect of Sleeve Gastrectomy on Gastroparesis: A Short Clinical Review". Bariatric Surgical Practice and Patient Care. 11 (2): 84–9. doi:10.1089/bari.2015.0052.
32. ^ https://www.sages.org/meetings/annual-meeting/abstracts-archive/sleeve-gastrectomy-for-the-treatment-of-diabetic-gastroparesis/[full citation needed]
33. ^ Bharucha, Adil E. (March 2015). "Epidemiology and Natural History of Gastroparesis". Gastroenterology Clinics of North America. 44 (1): 9–19. doi:10.1016/j.gtc.2014.11.002. ISSN 0889-8553. PMC 4323583. PMID 25667019.
## Further reading[edit]
* Overview from NIDDK National Institute of Diabetes, Digestive, and Kidney Diseases at NIH
* Camilleri M, Parkman HP, Shafi MA, Abell TL, Gerson L (January 2013). "Clinical guideline: management of gastroparesis". The American Journal of Gastroenterology. 108 (1): 18–37, quiz 38. doi:10.1038/ajg.2012.373. PMC 3722580. PMID 23147521.
* Parkman HP, Fass R, Foxx-Orenstein AE (June 2010). "Treatment of patients with diabetic gastroparesis". Gastroenterology & Hepatology. 6 (6): 1–16. PMC 2920593. PMID 20733935.
## External links[edit]
Classification
D
* ICD-10: K31.8
* ICD-9-CM: 536.3
* MeSH: D018589
* DiseasesDB: 32575
External resources
* MedlinePlus: 000297
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gastroparesis | c0152020 | 28,888 | wikipedia | https://en.wikipedia.org/wiki/Gastroparesis | 2021-01-18T18:51:47 | {"gard": ["12278"], "mesh": ["D018589"], "umls": ["C0152020"], "wikidata": ["Q943897"]} |
A number sign (#) is used with this entry because facioscapulohumeral muscular dystrophy-2 (FSHD2) shows digenic inheritance. It is caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.
Description
Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012).
FSHD1 (158900), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see 606009) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012).
Clinical Features
De Greef et al. (2010) examined 33 patients with FSHD2, defined as having no D4Z4 repeat less than 11 units on the permissive 4A161 haplotype, low D4Z4 methylation levels on chromosomes 4q and 10q, and a clinical phenotype consistent with FSHD. The average age at onset was 26 years (range 0 to 60), almost 10 years later than in FSHD1. The most common initial symptom was scapular weakness (61%), followed by foot dorsiflexor weakness (27%), facial weakness (10%), and hip girdle weakness (3%). On examination, all had scapular weakness, 79% had foot dorsiflexor weakness, and all but 2 patients had facial weakness. Positive Beevor sign, indicating abdominal muscle weakness, was found in 67% tested. The clinical severity score on average was similar to that reported in FSHD1. Less common findings included lack of ambulation (9%) and hearing loss (18%). Evaluation of the retinal vessels was not performed, but 2 patients examined showed no retinal vasculopathy. The majority of cases (20/33) were sporadic, 11 were familial, and the inheritance pattern was uncertain in 2, suggesting a different inheritance pattern from that in FSHD1.
Sacconi et al. (2012) reported 6 patients with sporadic occurrence of FSHD2, including 1 reported by de Greef et al. (2010). All had facial muscle and scapular weakness, and 5 had humeral, abdominal, and anterior foreleg weakness in an asymmetric pattern. Three had pelvic girdle weakness. Most of them experienced pain and fatigue, and 1 had sensorineural hearing loss. Creatine kinase levels were normal to 2-fold increased, muscle biopsies showed only mild dystrophic changes, and all had a myopathic pattern on EMG. All patients carried a 45- to 95-kb 4A161 allele and showed marked hypomethylation of the D4Z4 locus, typical of FSHD2. Study of family members showed that 3 unaffected mothers and 1 unaffected father carried the same 4A161 allele as their affected offspring, but they were not hypomethylated. One patient's unaffected daughter had significant hypomethylation, but the D4Z4 repeats were on a nonpermissive chromosome 4 background, suggesting that the hypomethylation determinant segregates independently from D4Z4 at 4q35.
Inheritance
FSHD2 shows digenic inheritance, requiring the inheritance of 2 independent genetic variations: a mutation in the SMCHD1 gene on chromosome 18p that results in D4Z4 chromatin relaxation and an FSHD-permissive DUX4 allele on chromosome 4. SMCHD1 mutations segregate independently from the FSHD-permissive DUX4 allele (summary by Lemmers et al., 2012).
Mapping
Gilbert et al. (1993) found evidence for heterogeneity in FSHD. In linkage studies, 5 of 7 families gave a posterior probability of more than 95% of being of the linked type, while 2 families appeared unlinked to that region of distal 4q. Affected members of the 2 unlinked families met the clinical criteria for the diagnosis of FSHD, including facial weakness, clavicular flattening, scapula winging, proximal muscle weakness, and myopathic changes on muscle biopsy without inflammatory or mitochondrial pathology.
In FSHD1A on 4q35-qter, the disease is associated with deletion of 3.3-kb repeats from a tandem repeat located near the gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a plausible candidate gene for FSHD1B. Speer et al. (1997) tested the most telomeric marker on 10q (sAVA4) and excluded approximately 17 cM on either side of this marker as harboring the FSHD1B gene.
Molecular Genetics
Among 33 patients with FSHD2, de Greef et al. (2010) found that all carried at least 1 D4Z4 repeat at chromosome 4q on the permissive haplotype 4A161. The shortest repeat on average was 16, which is shorter than the average of 28 observed in controls. Patients with FSHD2 showed significantly decreased methylation at D4Z4 on chromosomes 4q and 10q compared to controls, whereas those with FSHD1 had decreased methylation only at 4q. Moreover, the degree of decreased methylation in FSHD2 was significantly more than that observed in FSHD1; however, this was not associated with increased severity.
Van Overveld et al. (2003) showed that contraction of the D4Z4 repeat array in cases of FSHD1A causes marked hypomethylation of the contracted D4Z4 allele. Individuals with FSHD clinically identical to other cases but with an unaltered D4Z4 also have hypomethylation of D4Z4. These results strongly suggested that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.
Using chromatin immunoprecipitation (ChIP) in HeLa cells, Zeng et al. (2009) found SUV39H1 (300254)-mediated trimethylation of histone H3 (see 602810) at lysine-9 (H3K9), as well as trimethylation at H3 at lysine-27 (H3K27), both at D4Z4, representing transcriptionally repressive heterochromatin. There was also H3K4 dimethylation and H3 acetylation at proximal D4Z4 repeat regions, marking transcriptionally permissive euchromatin. The methylation signal at H3K9, at both the 4q and the 10q locus, was significantly decreased in cell lines derived from patients with FSHD1 (myoblasts and fibroblasts) and FSHD2 (fibroblasts) compared to controls. Contraction of D4Z4 at 1 allele showed a dominant effect on methylation of H3K9 at the other allele, as well as at the 10q locus, suggesting a spreading effect of histone modification. DNA hypomethylation was not observed in FSHD cells, and the decrease in H3K9 methylation was not observed in cells from patients with other forms of muscular dystrophy. Immunoprecipitation studies showed that loss of methylation at H3K9 interrupted binding of CBX3 (604477) and the cohesin complex (see, e.g., SCC1, 606462) at this region. Zeng et al. (2009) hypothesized that loss of H3K9 methylation, and thus loss of CBX3 and cohesion, results in the disruption of chromatin regulation, thereby causing abnormal derepression of distant target genes that leads to the dystrophic phenotype specific to muscle tissue.
### Mutation in the SMCHD1 Gene
In affected members of 15 (79%) of 19 families with facioscapulohumeral muscular dystrophy 1B, Lemmers et al. (2012) identified heterozygous loss-of-function mutations in the SMCHD1 gene (see, e.g., 614982.0001-614982.0005). The mutations in 7 families were initially identified by exome sequencing and confirmed by Sanger sequencing. The mutational spectrum included small deletions, splice site mutations, and missense mutations, resulting in haploinsufficiency. Patients showed D4Z4 hypomethylation to levels less than 25% (normal being about 50%), and protein blot analysis in several patients showed decreased SMCHD1 protein in fibroblasts. Affected individuals were also heterozygous or homozygous for an FSHD1-permissive D4Z4 haplotype that contains a polyadenylation signal to stabilize DUX4 mRNA in skeletal muscle. Primary myotubes from a normal individual with a normal-sized and methylated D4Z4 array on a permissive haplotype showed no DUX4 mRNA. However, decreasing SMCHD1 expression to about 50% using RNA interference resulted in transcriptional activation of DUX4 and a variegated pattern of DUX4 protein expression in the myotubes. The pattern of variegated DUX4 expression that resulted was similar to that observed in FSHD1 and FSMD2 myotube cultures. The findings indicated that SMCHD1 activity is necessary for D4Z4 hypermethylation and somatic repression of DUX4, and that reduction of SMCHD1 results in D4Z4 arrays that express DUX4 when a permissive haplotype is present. The SMCHD1 mutation and the permissive D4Z4 haplotype segregated independently in the families, indicating digenic inheritance. Of the 26 individuals with hypomethylation at D4Z4, a SMCHD1 mutation, and a permissive D4Z4 haplotype, 5 (19%) were asymptomatic, indicating incomplete penetrance.
Genotype/Phenotype Correlations
Sacconi et al. (2013) found that mutation in the SMCHD1 gene is a modifier of disease severity in families affected by FSHD1. Three unrelated families with intrafamilial clinical variability of the disorder were studied. In 1 family, a mildly affected man with FSHD1 carried a 9-unit D4Z4 repeat on a 4A allele with no SMCHD1 mutations, whereas his mildly affected wife carried a SMCHD1 mutation (T527M; 614982.0006) on a normal-sized 4A allele, consistent with FSHD2. Their more severely affected son and grandson each carried the 9-unit D4Z4 repeat on a 4A allele as well as the T527M SMCHD1 mutation, consistent with having both FSHD1 and FSHD2. In a second family, a man with a severe early-onset phenotype had both a 9-unit D4Z4 repeat on a 4A permissive allele and a mutation in the SMCHD1 gene. Each of his children, who had milder symptoms, inherited 1 of the genetic defects. In a third family, a man with a severe phenotype was also found to carry a 9-unit D4Z4 repeat on a 4A permissive allele with a SMCHD1 mutation. No information from his parents was available. Transduction of SMCHD1 shRNA into FSHD1 myotubes caused increased levels of DUX4 mRNA as well as transcriptional activation of known DUX4 target genes. These findings were consistent with further chromatin relaxation of the contracted FSHD1 repeat upon knockdown of SMCHD1. Sacconi et al. (2013) concluded that FSHD1 and FSHD2 share a common pathophysiologic pathway converging on transcriptional derepression of DUX4 in skeletal muscle.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 | c0238288 | 28,889 | omim | https://www.omim.org/entry/158901 | 2019-09-22T16:37:56 | {"doid": ["0111193"], "mesh": ["D020391"], "omim": ["158901"], "orphanet": ["269"], "synonyms": ["Alternative titles", "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC", "FSHD2, DIGENIC", "MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2", "MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B"], "genereviews": ["NBK1443"]} |
Adrenal crisis
Other namesAddisonian crisis and acute adrenal insufficiency
SpecialtyEmergency medicine, Endocrinology
SymptomsFever, lethargy, hyperkalemia, hyponatremia, hypotension, diarrhea, vomiting, convulsions[1]
CausesAddison's disease, Congenital adrenal hyperplasia, Waterhouse–Friderichsen syndrome, hypopituitarism
Adrenal crisis is a potentially life-threatening medical condition requiring immediate emergency treatment. It is a constellation of symptoms that indicate severe adrenal insufficiency caused by insufficient levels of the hormone cortisol.[2] This may be the result of either previously undiagnosed or untreated Addison's disease, a disease process suddenly affecting adrenal function (such as bleeding from the adrenal glands in Waterhouse-Friderichsen syndrome), suddenly stopping intake of glucocorticoids or an intercurrent problem (e.g. infection, trauma, in fact any form of physical or mental stress) in someone known to have Addison's disease, congenital adrenal hyperplasia (CAH), or other form of primary adrenal insufficiency.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Epidemiology
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Characteristic symptoms are:[3]
* Sudden penetrating pain in the legs, lower back or abdomen
* Confusion, psychosis, slurred speech
* Severe lethargy
* Convulsions
* Fever
* Hyperkalemia (elevated potassium level in the blood)
* Hypercalcemia (elevated calcium level in the blood): the cause of hypercalcemia is a combination of increased calcium input into the extracellular space and reduced calcium removal by the kidney, this last caused by decreased glomerular filtration and increased tubular calcium reabsorption. Both renal factors are secondary to volume depletion and, in fact, improve rapidly during rehydration with saline infusion.[4]
* Hypoglycemia (reduced level of blood glucose)
* Hyponatremia (low sodium level in the blood)
* Hypotension (low blood pressure)
* Hypothyroid (low T4 level)
* Severe vomiting and diarrhea, resulting in dehydration
* Syncope (transient loss of consciousness) and/or orthostatic hypotension (drop in blood pressure on standing, leading to loss of balance)
## Causes[edit]
Adrenal crisis is caused by a deficiency of cortisol resulting from Addison's disease, congenital adrenal hyperplasia (CAH), corticosteroid biosynthetic enzyme defects or pituitary disorders (such as Sheehan's syndrome, pituitary adenoma, hypopituitarism (inactive or underactive pituitary) causing failure to activate the adrenal glands.[citation needed]
## Diagnosis[edit]
Various investigations aid the diagnosis:[citation needed]
* ACTH (cosyntropin) stimulation test
* Cortisol level (to assess the level of glucocorticoids)
* Fasting blood sugar
* Serum potassium (to assess the level of mineralocorticoids)
* Serum sodium
## Prevention[edit]
Adrenal crisis is triggered by physiological stress (such as trauma) or severe psychological stress. Activities that have an elevated risk of trauma are best avoided. Treatment must be given within two hours of trauma and consequently it is advisable to carry injectable hydrocortisone in remote areas.[5]
## Treatment[edit]
This section needs expansion. You can help by adding to it. (September 2019)
Acute adrenal insufficiency is a medical emergency and needs to be treated with injectable hydrocortisone and fluid support.[2]
1. 1L of 0.9% saline over 30-60 min with 100mg of i.v. Bolus hydrocortisone.
2. Continuous infusion of saline within 24hours with 100mg I.m. hydrocortisone 6-hourly.
3. Glucose
4. To be shifted to oral medication based on the patient’s state. Hydrocortisone 20mg 8-hourly reduced to 20-30mg in divided doses over few days.
5. Fludrocortisone is given later.
## Epidemiology[edit]
Hahner et al. investigated the frequency, causes and risk factors for adrenal crisis in patients with chronic adrenal insufficiency.[6]
## See also[edit]
* Stress dose
## References[edit]
1. ^ https://medlineplus.gov/ency/article/000357.htm
2. ^ a b "Acute adrenal crisis (Addisonian crisis)". Endocrine Surgery Encyclopedia. UCLA Health System. Retrieved 14 August 2013.
3. ^ "Addison's Disease". National Endocrine and Metabolic Diseases Information Service. Archived from the original on 28 October 2007. Retrieved 14 August 2013.
4. ^ Muls, E.; Bouillon, R.; Boelaert, J.; Lamberigts, G.; Van Imschoot, S.; Daneels, R.; De Moor, P. (1982). "Etiology of hypercalcemia in a patient with Addison's disease". Calcified Tissue International. 34: 523–526. doi:10.1007/BF02411297.
5. ^ Hydrocortisone The Pituitary Foundation, UK
6. ^ Hahner, S.; Loeffler, M.; Bleicken, B.; Drechsler, C.; Milovanovic, D.; Fassnacht, M.; Ventz, M.; Quinkler, M.; Allolio, B. (2 December 2009). "Epidemiology of adrenal crisis in chronic adrenal insufficiency: the need for new prevention strategies". European Journal of Endocrinology. 162 (3): 597–602. doi:10.1530/EJE-09-0884. PMID 19955259.
## External links[edit]
* Acute adrenal crisis on PubmedHealth
* Adrenal Crisis on Patient.info
Classification
D
* ICD-10: E27.2
External resources
* MedlinePlus: 000357
* eMedicine: article/116716 article/765753
* v
* t
* e
Adrenal gland disorder
Hyperfunction
Aldosterone
* Hyperaldosteronism
* Primary aldosteronism
* Conn syndrome
* Bartter syndrome
* Glucocorticoid remediable aldosteronism
* AME
* Liddle's syndrome
* 17α CAH
* Pseudohypoaldosteronism
Cortisol
* Cushing's syndrome
* Pseudo-Cushing's syndrome
* Steroid-induced osteoporosis
Sex hormones
* 21α CAH
* 11β CAH
Hypofunction
Aldosterone
* Hypoaldosteronism
* 21α CAH
* 11β CAH
Cortisol
* CAH
* Lipoid
* 3β
* 11β
* 17α
* 21α
Sex hormones
* 17α CAH
* Inborn errors of steroid metabolism
Adrenal insufficiency
* Adrenal crisis
* Adrenalitis
* Xanthogranulomatous
* Addison's disease
* Waterhouse–Friderichsen syndrome
* v
* t
* e
Shock
Distributive
* Septic shock
* Neurogenic shock
* Anaphylactic shock
* Toxic shock syndrome
Obstructive
* Abdominal compartment syndrome
Low volume
* Hemorrhage
* Hypovolemia
* Osmotic shock
Other
* Spinal shock
* Cryptic shock
* Vasodilatory shock
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Adrenal crisis | c0151467 | 28,890 | wikipedia | https://en.wikipedia.org/wiki/Adrenal_crisis | 2021-01-18T18:31:45 | {"umls": ["C0151467"], "icd-10": ["E27.2"], "orphanet": ["95409"], "wikidata": ["Q4057453"]} |
Ellis–van Creveld syndrome
Other namesChondroectodermal dysplasia
Polydactyly in Ellis–van Creveld syndrome
SpecialtyMedical genetics
Ellis–van Creveld syndrome (also called mesoectodermal dysplasia but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 2.1 Relation to other rare disorders: genetic ciliopathy
* 3 Treatment
* 4 History
* 5 Nomenclature
* 6 References
* 7 External links
## Signs and symptoms[edit]
Patient with Ellis–Van Creveld syndrome at the age of 5 years showing long narrow chest and shortness of the limbs
Anterior view of the mouth of EVC patient showing absence of upper incisors and conical lower incisors
It involves numerous anomalies including:
* Post-axial polydactyly
* Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals)
* Teeth present at birth (natal teeth)[1][2]
* Fingernail dysplasia[2]
* Short-limbed dwarfism, mesomelic pattern[2]
* Short ribs
* Cleft palate
* Malformation of the wrist bones (fusion of the hamate and capitate bones).
## Genetics[edit]
Ellis–van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive, meaning that both parents have to carry the gene in order for an individual to be affected by the disorder.[3]
Ellis–van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, located close to the EVC gene in a head-to-head configuration. The gene was identified by positional cloning.[4] The EVC gene maps to the chromosome 4 short arm (4p16). The function of a healthy EVC gene is not well understood at this time.[3]
### Relation to other rare disorders: genetic ciliopathy[edit]
Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely varying set of medical symptoms that are clinically visible in the disorders. Ellis–van Creveld syndrome is one such disease, part of an emerging class of diseases called ciliopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.[5]
Weyers acrofacial dysostosis is due to another mutation in the EVC gene and hence is allelic with Ellis–van Creveld syndrome.[6]
## Treatment[edit]
There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.[7]
## History[edit]
The disorder was described by Richard W. B. Ellis (1902–1966) of Edinburgh and Simon van Creveld (1895–1971) of Amsterdam.[8] Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh in a textbook of pediatrics (Holt and McIntosh, 1933) and was included in full in the paper by Ellis and van Creveld (1940).[9]
McCusick et al. (1964) followed up with a study of its incidence in the Amish population. He observed the largest pedigree so far, in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania.[10] Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time.
## Nomenclature[edit]
'Six-fingered dwarfism' ('digital integer deficiency') was an alternative designation used for this condition when it was being studied in the Amish[10] and may have served a useful function in defining this then little known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some because of the reference to the polydactyly, which is seen as a 'freakish' label.[citation needed] For this reason, six-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis–van Creveld syndrome with its initialism, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or otherwise.
## References[edit]
1. ^ "Natal teeth". MedlinePlus : U.S. National Library of Medicine. Retrieved 7 April 2013.
2. ^ a b c "Ellis-van Creveld syndrome". MedlinePlus : U.S. National Library of Medicine. Retrieved 7 April 2013.
3. ^ a b Ellis–van Creveld syndrome. Genes and Diseases. NCBI. 1998. Retrieved November 8, 2010.
4. ^ Ruiz-Perez VL, Ide SE, Strom TM, et al. (2000). "Mutations in a new gene in Ellis–van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283–6. doi:10.1038/73508. PMID 10700184. S2CID 1391136.
5. ^ Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
6. ^ Shi L, Luo C, Ahmed MK, Attaie AB, Ye X (2015) Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. Mol Genet Genomics
7. ^ "Archived copy". Archived from the original on 2017-12-01. Retrieved 2017-11-18.CS1 maint: archived copy as title (link)
8. ^ synd/1114 at Who Named It?
9. ^ Ellis, R. W. B.; van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch. Dis. Child. 15: 65–84, 1940.
10. ^ a b McKusick, V. A.; Egeland, J. A.; Eldridge, R.; Krusen, D. E. (1964). "Dwarfism in the Amish. I. The Ellis–van Creveld syndrome". Bulletin of the Johns Hopkins Hospital. 115: 306–36. PMID 14217223.
## External links[edit]
Classification
D
* ICD-10: Q77.6
* ICD-9-CM: 756.55
* OMIM: 225500
* MeSH: D004613
* DiseasesDB: 29309
External resources
* MedlinePlus: 001667
* eMedicine: ped/660
* Orphanet: 289
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
* v
* t
* e
Congenital malformations and deformations of integument / skin disease
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
* Ichthyosis vulgaris
AR
* Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis
* Lamellar ichthyosis
* Harlequin-type ichthyosis
* Netherton syndrome
* Zunich–Kaye syndrome
* Sjögren–Larsson syndrome
XR
* X-linked ichthyosis
Ungrouped
* Ichthyosis bullosa of Siemens
* Ichthyosis follicularis
* Ichthyosis prematurity syndrome
* Ichthyosis–sclerosing cholangitis syndrome
* Nonbullous congenital ichthyosiform erythroderma
* Ichthyosis linearis circumflexa
* Ichthyosis hystrix
EB
and related
* EBS
* EBS-K
* EBS-WC
* EBS-DM
* EBS-OG
* EBS-MD
* EBS-MP
* JEB
* JEB-H
* Mitis
* Generalized atrophic
* JEB-PA
* DEB
* DDEB
* RDEB
* related: Costello syndrome
* Kindler syndrome
* Laryngoonychocutaneous syndrome
* Skin fragility syndrome
Ectodermal dysplasia
* Naegeli syndrome/Dermatopathia pigmentosa reticularis
* Hay–Wells syndrome
* Hypohidrotic ectodermal dysplasia
* Focal dermal hypoplasia
* Ellis–van Creveld syndrome
* Rapp–Hodgkin syndrome/Hay–Wells syndrome
Elastic/Connective
* Ehlers–Danlos syndromes
* Cutis laxa (Gerodermia osteodysplastica)
* Popliteal pterygium syndrome
* Pseudoxanthoma elasticum
* Van der Woude syndrome
Hyperkeratosis/
keratinopathy
PPK
* diffuse: Diffuse epidermolytic palmoplantar keratoderma
* Diffuse nonepidermolytic palmoplantar keratoderma
* Palmoplantar keratoderma of Sybert
* Meleda disease
* syndromic
* connexin
* Bart–Pumphrey syndrome
* Clouston's hidrotic ectodermal dysplasia
* Vohwinkel syndrome
* Corneodermatoosseous syndrome
* plakoglobin
* Naxos syndrome
* Scleroatrophic syndrome of Huriez
* Olmsted syndrome
* Cathepsin C
* Papillon–Lefèvre syndrome
* Haim–Munk syndrome
* Camisa disease
* focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
* Focal palmoplantar and gingival keratosis
* Howel–Evans syndrome
* Pachyonychia congenita
* Pachyonychia congenita type I
* Pachyonychia congenita type II
* Striate palmoplantar keratoderma
* Tyrosinemia type II
* punctate: Acrokeratoelastoidosis of Costa
* Focal acral hyperkeratosis
* Keratosis punctata palmaris et plantaris
* Keratosis punctata of the palmar creases
* Schöpf–Schulz–Passarge syndrome
* Porokeratosis plantaris discreta
* Spiny keratoderma
* ungrouped: Palmoplantar keratoderma and spastic paraplegia
* desmoplakin
* Carvajal syndrome
* connexin
* Erythrokeratodermia variabilis
* HID/KID
Other
* Meleda disease
* Keratosis pilaris
* ATP2A2
* Darier's disease
* Dyskeratosis congenita
* Lelis syndrome
* Dyskeratosis congenita
* Keratolytic winter erythema
* Keratosis follicularis spinulosa decalvans
* Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
* Keratosis pilaris atrophicans faciei
* Keratosis pilaris
Other
* cadherin
* EEM syndrome
* immune system
* Hereditary lymphedema
* Mastocytosis/Urticaria pigmentosa
* Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
Developmental
anomalies
Midline
* Dermoid cyst
* Encephalocele
* Nasal glioma
* PHACE association
* Sinus pericranii
Nevus
* Capillary hemangioma
* Port-wine stain
* Nevus flammeus nuchae
Other/ungrouped
* Aplasia cutis congenita
* Amniotic band syndrome
* Branchial cyst
* Cavernous venous malformation
* Accessory nail of the fifth toe
* Bronchogenic cyst
* Congenital cartilaginous rest of the neck
* Congenital hypertrophy of the lateral fold of the hallux
* Congenital lip pit
* Congenital malformations of the dermatoglyphs
* Congenital preauricular fistula
* Congenital smooth muscle hamartoma
* Cystic lymphatic malformation
* Median raphe cyst
* Melanotic neuroectodermal tumor of infancy
* Mongolian spot
* Nasolacrimal duct cyst
* Omphalomesenteric duct cyst
* Poland anomaly
* Rapidly involuting congenital hemangioma
* Rosenthal–Kloepfer syndrome
* Skin dimple
* Superficial lymphatic malformation
* Thyroglossal duct cyst
* Verrucous vascular malformation
* Birthmark
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ellis–van Creveld syndrome | c0013903 | 28,891 | wikipedia | https://en.wikipedia.org/wiki/Ellis%E2%80%93van_Creveld_syndrome | 2021-01-18T18:59:05 | {"gard": ["1301"], "mesh": ["D004613"], "umls": ["C0013903"], "orphanet": ["289"], "wikidata": ["Q1332448"]} |
Not to be confused with Atrial fibrillation.
Atrial flutter
Atrial flutter with varying A-V conduction (5:1 and 4:1)
SpecialtyCardiology
Atrial flutter (AFL) is a common abnormal heart rhythm that starts in the atrial chambers of the heart.[1] When it first occurs, it is usually associated with a fast heart rate and is classified as a type of supraventricular tachycardia.[2] Atrial flutter is characterized by a sudden-onset (usually) regular abnormal heart rhythm on an electrocardiogram (ECG) in which the heart rate is fast. Symptoms may include a feeling of the heart beating too fast, too hard, or skipping beats, chest discomfort, difficulty breathing, a feeling as if one's stomach has dropped, a feeling of being light-headed, or loss of consciousness.
Although this abnormal heart rhythm typically occurs in individuals with cardiovascular disease (e.g. high blood pressure, coronary artery disease, and cardiomyopathy) and diabetes mellitus, it may occur spontaneously in people with otherwise normal hearts. It is typically not a stable rhythm, and often degenerates into atrial fibrillation (AF).[3] However, it does rarely persist for months to years. Similar to the abnormal heart rhythm atrial fibrillation, atrial flutter also leads to poor contraction of the atrial chambers of the heart. This leads to the pooling of the blood in the heart and can lead to the formation of blood clots in the heart which poses a significant risk of breaking off and traveling through the bloodstream resulting in strokes.
A supraventricular tachycardia with a ventricular heart rate of 150 beats per minute is suggestive (though not necessarily diagnostic) of atrial flutter. Administration of adenosine in the vein (intravenously) can help medical personnel differentiate between atrial flutter and other forms of supraventricular tachycardia.[2] Immediate treatment of atrial flutter centers on slowing the heart rate with medications such as beta blockers (e.g., metoprolol) or calcium channel blockers (e.g., diltiazem) if the affected person is not having chest pain, has not lost consciousness, and if their blood pressure is normal (known as stable atrial flutter). If the affected person is having chest pain, has lost consciousness, or has low blood pressure (unstable atrial flutter), then an urgent electrical shock to the heart to restore a normal heart rhythm is necessary. Long-term use of blood thinners (e.g., warfarin or apixaban) is an important component of treatment to reduce the risk of blood clot formation in the heart and resultant strokes.[3][4] Medications used to restore a normal heart rhythm (antiarrhythmics) such as ibutilide effectively control atrial flutter about 80% of the time when they are started but atrial flutter recurs at a high rate (70–90% of the time) despite continued use.[1] Atrial flutter can be treated more definitively with a technique known as catheter ablation. This involves the insertion of a catheter through a vein in the groin which is followed up to the heart and is used to identify and interrupt the electrical circuit causing the atrial flutter (by creating a small burn and scar).
Atrial flutter was first identified as an independent medical condition in 1920 by the British physician Sir Thomas Lewis (1881–1945) and colleagues.[5] AFL is the second most common pathologic supraventricular tachycardia but occurs at a rate less than one-tenth of the most common supraventricular tachycardia (atrial fibrillation).[2][3] The overall incidence of AFL has been estimated at 88 cases per 100,000 person-years. The incidence of AFL is significantly lower (~5 cases/100,000 person-years) in those younger than age 50 and is far more common (587 cases/100,000 person-years) in those over 80 years of age.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 1.1.1 Rate related
* 1.1.2 Clot formation
* 1.1.3 Sudden cardiac death
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Type I
* 3.1.2 Type II
* 4 Management
* 4.1 Cardioversion
* 4.2 Ablation
* 5 References
* 6 External links
## Signs and symptoms[edit]
While atrial flutter can sometimes go unnoticed, its onset is often marked by characteristic sensations of the heart feeling like it is beating too fast or hard. Such sensations usually last until the episode resolves, or until the heart rate is controlled.
Atrial flutter is usually well tolerated initially (a high heart rate is for most people just a normal response to exercise), however, people with other underlying heart disease (such as coronary artery disease) or poor exercise tolerance may rapidly develop symptoms, such as shortness of breath, chest pain, lightheadedness or dizziness, nausea and, in some patients, nervousness and feelings of impending doom.
Prolonged atrial flutter with fast heart rates may lead to decompensation with loss of normal heart function (heart failure). This may manifest as exercise intolerance (exertional breathlessness), difficulty breathing at night, or swelling of the legs and/or abdomen.
### Complications[edit]
Although often regarded as a relatively benign heart rhythm problem, atrial flutter shares the same complications as the related condition atrial fibrillation. There is paucity of published data directly comparing the two, but overall mortality in these conditions appears to be very similar.[6]
#### Rate related[edit]
Rapid heart rates may produce significant symptoms in patients with pre-existing heart disease and can lead to inadequate blood flow to the heart muscle and even a heart attack.[1] In rare situations, atrial flutter associated with a fast heart rate persists for an extended period of time without being corrected to a normal heart rhythm and leads to a tachycardia-induced cardiomyopathy.[1] Even in individuals with a normal heart, if the heart beats too quickly for a prolonged period of time, this can lead to ventricular decompensation and heart failure.
#### Clot formation[edit]
Because there is little if any effective contraction of the atria there is stasis (pooling) of blood in the atria. Stasis of blood in susceptible individuals can lead to the formation of a thrombus (blood clot) within the heart. A thrombus is most likely to form in the atrial appendages. A blood clot in the left atrial appendage is particularly important as the left side of the heart supplies blood to the entire body through the arteries. Thus, any thrombus material that dislodges from this side of the heart can embolize (break off and travel) to the brain's arteries, with the potentially devastating consequence of a stroke. Thrombus material can, of course, embolize to any other portion of the body, though usually with a less severe outcome.
#### Sudden cardiac death[edit]
Sudden death is not directly associated with atrial flutter. However, in individuals with a pre-existing accessory conduction pathway, such as the bundle of Kent in Wolff-Parkinson-White syndrome, the accessory pathway may conduct activity from the atria to the ventricles at a rate that the AV node would usually block. Bypassing the AV node, the atrial rate of 300 beats/minute leads to a ventricular rate of 300 beats/minute (1:1 conduction). Even if the ventricles are able to sustain a cardiac output at such a high rates, 1:1 flutter with time may degenerate into ventricular fibrillation, causing hemodynamic collapse and death.
## Pathophysiology[edit]
Atrial flutter is caused by a re-entrant rhythm. This usually occurs along the cavo-tricuspid isthmus of the right atrium though atrial flutter can originate from the left atrium as well. Typically initiated by a premature electrical impulse arising in the atria, atrial flutter is propagated due to differences in refractory periods of atrial tissue. This creates electrical activity that moves in a localized self-perpetuating loop, which usually lasts about 200 milliseconds for the complete circuit. For each cycle around the loop, an electric impulse results and propagates through the atria.
The impact and symptoms of atrial flutter depend on the heart rate of the affected person. Heart rate is a measure of the ventricular rather than atrial activity. Impulses from the atria are conducted to the ventricles through the atrio-ventricular node (AV node). In a person with atrial flutter, a 12-lead electrocardiogram (ECG) will demonstrate the atrial chambers of the heart contracting at a rate of 280–300 beats per minute whereas the ventricular chambers of the heart typically beat at a rate of 140–150 beats per minute.[2] Due primarily to its longer refractory period, the AV node exerts a protective effect on heart rate by blocking atrial impulses in excess of about 180 beats/minute, for the example of a resting heart rate. (This block is dependent on the age of the patient, and can be calculated roughly by subtracting patient age from 220). If the flutter rate is 300/minute only half of these impulses will be conducted, giving a ventricular rate of 150/minute, or a 2:1 heart block. The addition of rate-controlling drugs or conduction system disease can increase this block substantially (see image below).
## Diagnosis[edit]
Typical atrial flutter is recognized on an electrocardiogram by presence of characteristic "flutter waves" at a regular rate of 200 to 300 beats per minute. Flutter waves may not be evident on an ECG in atypical forms of atrial flutter. Individual flutter waves may be symmetrical, resembling p-waves, or may be asymmetrical with a "sawtooth" shape, rising gradually and falling abruptly or vice versa. If atrial flutter is suspected clinically but is not clearly evident on ECG, acquiring a Lewis lead ECG may be helpful in revealing flutter waves.
### Classification[edit]
There are two types of atrial flutter, the common type I and rarer type II.[7] Most individuals with atrial flutter will manifest only one of these. Rarely someone may manifest both types; however, they can manifest only one type at a time.
#### Type I[edit]
Type I atrial flutter, counterclockwise rotation with 3:1 and 4:1 AV nodal block.
Atrial flutter with a two to one block. Note the P waves hiding in the T waves in leads V1 and V2
Type I atrial flutter, also known as common atrial flutter or typical atrial flutter, has an atrial rate of 240 to 340 beats/minute. However, this rate may be slowed by antiarrhythmic agents.
The reentrant loop circles the right atrium, passing through the cavo-tricuspid isthmus – a body of fibrous tissue in the lower atrium between the inferior vena cava, and the tricuspid valve.[1] Type I flutter is further divided into two subtypes, known as counterclockwise atrial flutter and clockwise atrial flutter depending on the direction of current passing through the loop.[1]
* Counterclockwise atrial flutter (known as cephalad-directed atrial flutter) is more commonly seen. The flutter waves in this rhythm are inverted in ECG leads II, III, and aVF.[1]
* The re-entry loop cycles in the opposite direction in clockwise atrial flutter, thus the flutter waves are upright in II, III, and aVF.[1]
#### Type II[edit]
Type II (atypical) atrial flutter follows a significantly different re-entry pathway to type I flutter, and is typically faster, usually 340–350 beats/minute.[8] Atypical atrial flutter rarely occurs in people who have not undergone previous heart surgery or previous catheter ablation procedures. Left atrial flutter is considered atypical and is common after incomplete left atrial ablation procedures.[9] Atypical atrial flutter originating from the right atrium and heart's septum have also been described.
## Management[edit]
In general, atrial flutter should be managed the same as atrial fibrillation. Because both rhythms can lead to the formation of a blood clot in the atrium, individuals with atrial flutter usually require some form of anticoagulation or antiplatelet agent. Both rhythms can be associated with dangerously fast heart rates and thus require medication to control the heart rate (such as beta blockers or calcium channel blockers) and/or rhythm control with class III antiarrhythmics (such as ibutilide or dofetilide). However, atrial flutter is more resistant to correction with such medications than atrial fibrillation.[1] For example, although the class III antiarrhythmic agent ibutilide is an effective treatment for atrial flutter, rates of recurrence after treatment are quite high (70–90%).[1] Additionally, there are some specific considerations particular to treatment of atrial flutter.
### Cardioversion[edit]
Atrial flutter is considerably more sensitive to electrical direct current cardioversion than atrial fibrillation, with a shock of only 20 to 50 Joules commonly being enough to cause a return to a normal heart rhythm (sinus rhythm). Exact placement of the pads does not appear important.[10]
### Ablation[edit]
Due to the reentrant nature of atrial flutter, it is often possible to ablate the circuit that causes atrial flutter with radiofrequency catheter ablation. Catheter ablation is considered to be a first-line treatment method for many people with typical atrial flutter due to its high rate of success (>90%) and low incidence of complications.[1] This is done in the cardiac electrophysiology lab by causing a ridge of scar tissue in the cavotricuspid isthmus that crosses the path of the circuit that causes atrial flutter. Eliminating conduction through the isthmus prevents reentry, and if successful, prevents the recurrence of the atrial flutter. Atrial fibrillation often occurs (30% within 5 years) after catheter ablation for atrial flutter.[1]
## References[edit]
1. ^ a b c d e f g h i j k l Sawhney, NS; Anousheh, R; Chen, WC; Feld, GK (February 2009). "Diagnosis and management of typical atrial flutter". Cardiology Clinics (Review). 27 (1): 55–67, viii. doi:10.1016/j.ccl.2008.09.010. PMID 19111764.
2. ^ a b c d Link, MS (October 2012). "Clinical practice. Evaluation and initial treatment of supraventricular tachycardia". New England Journal of Medicine. 367 (15): 1438–48. doi:10.1056/NEJMcp1111259. PMID 23050527.
3. ^ a b c d Bun, SS; Latcu, DG; Marchlinski, F; Saoudi, N (September 2015). "Atrial flutter: more than just one of a kind". European Heart Journal. 36 (35): 2356–63. doi:10.1093/eurheartj/ehv118. PMID 25838435.
4. ^ Vadmann, H; Nielsen, PB; Hjortshøj, SP; Riahi, S; Rasmussen, LH; Lip, GY; Larsen, TB (September 2015). "Atrial flutter and thromboembolic risk: a systematic review". Heart. 101 (18): 1446–55. doi:10.1136/heartjnl-2015-307550. PMID 26149627.
5. ^ Lewis T, Feil HS, Stroud WD (1920). "Observations upon flutter, fibrillation, II: the nature of auricular flutter". Heart. 7: 191.
6. ^ Vidaillet H, Granada JF, Chyou PH, Maassen K, Ortiz M, Pulido JN, et al. (2002). "A Population-Based Study of Mortality among Patients with Atrial Fibrillation or Flutter". The American Journal of Medicine. 113 (5): 365–70. doi:10.1016/S0002-9343(02)01253-6. PMID 12401530.
7. ^ Surawicz, Borys; Knilans, Timothy K.; Chou, Te-Chuan (2001). Chou's electrocardiography in clinical practice: adult and pediatric. Philadelphia: Saunders. ISBN 978-0-7216-8697-4.[page needed]
8. ^ "Atrial Flutter: Overview". eMedicine Cardiology. Archived from the original on 26 February 2009. Retrieved 2009-03-06.
9. ^ Garan, H (April 2008). "Atypical atrial flutter". Heart Rhythm. 5 (4): 618–21. doi:10.1016/j.hrthm.2007.10.031. PMID 18325846.
10. ^ Kirkland, S; Stiell, I; AlShawabkeh, T; Campbell, S; Dickinson, G; Rowe, BH (July 2014). "The efficacy of pad placement for electrical cardioversion of atrial fibrillation/flutter: a systematic review". Academic Emergency Medicine. 21 (7): 717–26. doi:10.1111/acem.12407. PMID 25117151.
## External links[edit]
Classification
D
* ICD-10: I48.3, I48.4, I48.9
* ICD-9-CM: 427.32
* MeSH: D001282
* DiseasesDB: 1072
External resources
* MedlinePlus: 000184
* eMedicine: med/185
* Patient UK: Atrial flutter
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Atrial flutter | c0004239 | 28,892 | wikipedia | https://en.wikipedia.org/wiki/Atrial_flutter | 2021-01-18T19:05:33 | {"mesh": ["D001282"], "umls": ["C0004239"], "icd-9": ["427.32"], "icd-10": ["I48"], "wikidata": ["Q1506572"]} |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.
## Epidemiology
The type 3 disease is the rarest form of VWD, accounting for less than 5% of all cases. Annual incidence varies between countries ranging from 1/1,000,000 to 1/2,000,000 in Europe and the USA and with estimates of around 1/500,000 in countries where consanguinity is more frequent.
## Clinical description
Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The bleeding anomalies are mainly characterized by mucocutaneous hemorrhage (epistaxis, menorrhagia, postpartum hemorrhage, gastrointestinal bleeding etc.) and prolonged bleeding after surgical interventions. As in hemophilia patients, hematomas and hemarthrosis may occur in individuals with type 3 VWD due to the severe FVIII deficiency. Cerebral hemorrhage has also been reported.
## Etiology
The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing.
## Diagnostic methods
Diagnosis is straightforward and is based on the absence of detectable VWF measured by all available methods (including functional and immunologic assays and agarose gel electrophoresis), accompanied by a secondary FVIII deficiency with a decrease to between 1 and 10% of normal levels.
## Differential diagnosis
Measurements of VWF levels generally allow VWD type 3 to be distinguished from moderate hemophilia A. Type 3 VWD is also generally easy to distinguish from other hereditary forms of VWD.
## Antenatal diagnosis
In at risk pregnancies, when the pathogenic variants have been previously identified in a family member, the identification of underlying VWF mutations may be used for prenatal diagnosis.
## Genetic counseling
The pattern of inheritance is autosomal recessive. Genetic counseling should be recommended for at risk couples (where both parents are unaffected carriers) informing them that the risk of having an affected child is 25% for each pregnancy.
## Management and treatment
Patients with type 3 VWD do not respond to desmopressin and therefore substitution therapy with purified human VWF associated, at least for the first injection, with FVIII is the principle preventative or curative treatment. Long-term prophylactic treatment with regular injections of purified human VWF may be required for patients with recurrent bleeding events. Some patients (5-10 % of cases) develop alloantibodies against VWF rendering the substitution treatment ineffective; the formation of immune complexes is sometimes associated with an anaphylactic response. In these cases, alternative treatments, such as continuous infusion of recombinant factor VIII or recombinant activated factor VII, should be considered. There are some preliminary reports of use of emicizumab in allo-immunized type 3 patients.
## Prognosis
Type 3 VWD is the most severe form of VWD and, in the absence of appropriate management in specialized hemostasis hospital centers, the manifestations can be life-threatening and lead to functional impairment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Von Willebrand disease type 3 | c1264041 | 28,893 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166096 | 2021-01-23T19:12:55 | {"mesh": ["D056729"], "omim": ["277480"], "umls": ["C1264041"], "icd-10": ["D68.0"]} |
A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Nevus comedonicus syndrome | c0265987 | 28,894 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64754 | 2021-01-23T17:57:26 | {"omim": ["617025"], "umls": ["C0265987"], "icd-10": ["Q82.5"]} |
Olivopontocerebellar atrophy (OPCA) is a term used for a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. OPCA can be viewed as a finding of several diseases, and indicates a form of progressive ataxia (abnormal or uncontrolled movements) distinguished by characteristic findings in brain imaging studies and at autopsy (pontine flattening and cerebellar atrophy). It was traditionally divided in hereditary or genetic OPCA and sporadic OPCA. Currently, most of the major forms of hereditary OPCA refer to disorders that overlap with spinocerebellar ataxia (SCA), which is a neurological disorder characterized by ataxia. The sporadic forms are considered now to be a form of multiple system atrophy (MSA). OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Olivopontocerebellar atrophy | c0028968 | 28,895 | gard | https://rarediseases.info.nih.gov/diseases/7250/olivopontocerebellar-atrophy | 2021-01-18T17:58:36 | {"mesh": ["D009849"], "umls": ["C0028968"], "synonyms": ["OPCA"]} |
A number sign (#) is used with this entry because of evidence that both syndromic microphthalmia-9 (MCOPS9) and isolated microphthalmia with coloboma-8 (MCOPCB8) are caused by homozygous or compound heterozygous mutation in the STRA6 gene (610745) on chromosome 15q24.
Description
Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Clinical Features
Ostor et al. (1978) described a premature stillborn infant with bilateral anophthalmia and pulmonary agenesis. Spear et al. (1987) reported a full-term stillborn male infant with a birth weight of 2,760 g in whom autopsy revealed right anophthalmia and left clinical anophthalmia, bilateral pulmonary agenesis, overriding aorta with high ventricular septal defect, nodular vestige of the main pulmonary artery, and eventration of the left hemidiaphragm.
Smith et al. (1994) described a 9-year-old boy, born at term with a weight of 3,250 g, who had bilateral extreme microphthalmia and respiratory distress due to a right-sided diaphragmatic hernia which was surgically repaired in the first 24 hours of life. In infancy he was found to have a hiatal hernia and tetralogy of Fallot, both of which were corrected surgically at 5 years of age. Ultrasound at age 8 showed that the right kidney was smaller than the left. His teacher reported above-average intellectual skills, and he had mild bilateral nerve deafness. Examination at age 9 revealed short stature, low-set prominent ears with narrow sloping external auditory meatus, mild pectus carinatum, and long thin rocker-bottom feet. He had 2 healthy younger sisters.
Seller et al. (1996) reported a male newborn and a female fetus, sibs of nonconsanguineous parents, who had bilateral anophthalmia and pulmonary hypoplasia. The male infant, who had a birth weight of 2,860 g, survived for only 1 hour; autopsy revealed bilateral anophthalmia and unilobar lungs with no other abnormalities. A second pregnancy resulted in a normal boy, and a third pregnancy was terminated at 18 weeks of gestation because of bilateral anophthalmia and hypoplastic lungs seen on ultrasound scan. Autopsy of the female fetus confirmed bilateral anophthalmia and also revealed micrognathia, midline cleft of the secondary palate, low-set ears, brachycephaly, bilateral asymmetric hypoplasia of the lungs with no apparent lobulation, hypoplastic left atrium, single ventricle, enlarged pulmonary trunk, hypoplastic spleen, and hypoplastic bicornuate uterus. The authors referred to the disorder as the Matthew-Wood syndrome at the request of the parents, presumably the name of the first-born sib. Seller et al. (1996) reviewed syndromes that included a combination of anophthalmia/microphthalmia with pulmonary hypoplasia, and stated that their cases were most likely the same condition as that reported by Spear et al. (1987).
Berkenstadt et al. (1999) reported the prenatal diagnosis of a 22-week-gestation male fetus with bilateral microphthalmia with cyst, right diaphragmatic hernia, agenesis of the right lung and pulmonary vessels, and intrauterine growth retardation. They suggested that this was similar to the case of Spear et al. (1987) and the case of Engellenner et al. (1989).
Priolo et al. (2004) reported a male infant born at term with mild intrauterine growth retardation (birth weight, 2,580 g) and severe bilateral microphthalmia, left diaphragmatic hernia with eventration of stomach and spleen, marked bilateral pulmonary hypoplasia, secundum-type atrial septal defect, and malrotation of the left kidney. The infant died 2 days after birth.
Lee et al. (2006) reported a female infant, the only child of a nonconsanguineous Pakistani couple, who was born at term weighing 2,125 g but died 4 hours after birth from respiratory failure. There were no dysmorphic features or limb defects. Postmortem examination confirmed bilateral microphthalmia, left-sided diaphragmatic hernia, and bilateral lung hypoplasia. There was no structural heart lesion and pulmonary vessels were normal. Lee et al. (2006) noted that the coexistence of microphthalmia, pulmonary hypoplasia, and diaphragmatic defects had been reported in 4 previous patients (Spear et al., 1987, Engellenner et al., 1989, Berkenstadt et al., 1999, and Priolo et al., 2004), all of whom had intrauterine growth retardation.
Li and Wei (2006) reported a female infant, born of a Nigerian mother, who presented at birth with bilateral clinical anophthalmia and respiratory distress due to pulmonary hypoplasia and pulmonary artery hypoplasia. The infant, who weighed 3,350 g at birth, died at 43 hours of age. Postmortem examination showed hypoplastic optic nerves and absence of the ocular globes. There was a single small unlobed lung on each side of the thorax, marked dilation of the right atrium and ventricle with a small left atrium and ventricle, and a hypoplastic left kidney that was abnormally descended into the pelvis.
Pasutto et al. (2007) described 2 unrelated consanguineous Turkish families with a pleiotropic multisystem malformation syndrome characterized by bilateral clinical anophthalmia, mild facial dysmorphism, normal intrauterine growth, early lethality, and a variety of malformations of the lungs, diaphragm, heart, and urogenital systems. Bilateral anophthalmia had been diagnosed in the proband of the first family by ultrasound scans at 16 weeks' gestation. She had normal intrauterine growth, with normal birth length, weight, and head circumference. At birth, right-sided pelvic kidney, circulatory-nonrelevant pulmonic valve stenosis, and a patent ductus arteriosus, which was surgically closed at the age of 3 weeks, were found. At the age of 2 months, she had mild facial dysmorphism, with marked blepharophimosis with an unusual trichoglyphic pattern of the eyebrows, which were broad, flaring, and only upward growing. She had a broad nasal bridge, micrognathia, and large, low-set ears. Cerebral magnetic resonance imaging (MRI) showed no abnormality of brain structure and showed visible optic nerves and chiasm. Mechanical ventilatory support was required from birth because of persistent respiratory insufficiency. Open lung biopsy performed at the age of 2.5 months revealed a reduced number of alveolar units and pulmonary capillary vessels with thickening of the interalveolar septa, as well as medial thickening of small pulmonary arteries with muscularization, which are the key features of alveolar capillary dysplasia. She died at the age of 6 months from respiratory insufficiency. The paternal uncle of the proband, who was also married to a half cousin, had a daughter with bilateral clinical anophthalmia, who died at the age of 2 days from cyanotic congenital heart defect with atresia of the pulmonary artery and single ventricle. She had normal intrauterine growth. The 14-year-old proband of the second family was the oldest son of a healthy consanguineous couple of Turkish origin. He had bilateral clinical anophthalmia, diaphragmatic hernia, and severe short stature with relative preservation of head growth (occipitofrontal circumference of 51 cm, corresponding to the third percentile). He had profound mental retardation with no speech and no obvious receptive language skills. He had both an atrial and a ventricular septal defect which did not require therapy. Cerebral MRI performed at the age of 4 years showed a structurally normal brain, apart from absent optic nerves. He had mild facial dysmorphism with severe blepharophimosis and an unusual trichoglyphic pattern of both eyebrows similar to that seen in the proband from the first family. The mother had had termination of a 23-week gestation after diagnosis of bilateral clinical anophthalmia and severe diaphragmatic hernia on antenatal ultrastructural scan. The fetus showed mild facial dysmorphism similar to that of the probands in the 2 families.
Pasutto et al. (2007) also described 3 more patients with a similar phenotype, with bilateral clinical anophthalmia, diaphragmatic hernia or eventration, lung hypoplasia, and normal birth measurements as consistent features.
Chitayat et al. (2007) described 8 patients, including a living child, 3 sibs, and 4 isolated cases, with the triad of bilateral severe microphthalmia, pulmonary agenesis/hypoplasia, and diaphragmatic defect; 5 patients also had cardiac abnormalities. Two patients did not have the full triad, one lacking pulmonary hypoplasia and the other having no diaphragmatic defect; both survived longer than is typical with this syndrome. A female infant who was born to consanguineous Moroccan parents had bilateral microphthalmia, bilateral unilobar lungs, atrial septal defect with patent ductus arteriosus, and hypoplastic left pelvic kidney, but no diaphragmatic defect. She underwent surgery to expand the orbits at 19 months of age but died postoperatively for unknown reasons. Chitayat et al. (2007) proposed that the syndrome be designated PDAC, for pulmonary aplasia/dysgenesis/hypoplasia, diaphragmatic eventration/hernia, anophthalmia/microphthalmia/ocular dysplasia, and cardiac defect, representing the most important components of this condition.
West et al. (2009) reviewed the phenotypic features of 9 patients with known STRA6 mutations and 4 affected sibs of these patients. The authors noted that all 12 patients in whom the eye phenotype was reported had bilateral clinical anophthalmia. Cardiac defects were the second most common feature, present in 10 (77%) of the 13 patients, and were varied. Pulmonary agenesis or hypoplasia was noted in 8 (62%), and diaphragmatic hernia or eventration in 8 (62%). Intrafamilial variation was common for the cardiac, pulmonary, and diaphragmatic malformations. Beyond these 4 cardinal features, the phenotype was pleiotropic, with dysmorphic features found in 6 of the 13 patients and renal anomalies in 4; 2 individuals had genital anomalies, 2 had duodenal stenosis, and 2 had pancreatic malformations. Cerebral malformations were rare, with 1 occurrence of a thin corpus callosum and 2 instances of small or absent optic nerves. Survival was poor, with only 2 of the 13 patients alive at the ages of 3 months and 14 years, respectively.
Marcadier et al. (2015) reported 6 patients from 4 Hmong families with clinical anophthalmia and bilateral pulmonary agenesis as well as cardiac, diaphragmatic, renal, and urogenital anomalies. In addition, 3 of the 6 patients (patients 4, 5 and 6, from families 3 and 4) exhibited camptodactyly and digital contractures.
Cytogenetics
In a 9-year-old boy with bilateral clinical anophthalmia, diaphragmatic hernia, and tetralogy of Fallot, Smith et al. (1994) identified an apparently balanced reciprocal translocation t(1;15)(q41;q21.2). Parental karyotypes were normal.
Mapping
Pasutto et al. (2007) performed a genomewide linkage scan in both consanguineous Turkish families with syndromic clinical anophthalmia described by them. Parametric and nonparametric linkage analysis of both families together revealed a single maximum lod score of 4.8 for the region 15q23-q25.1; flanking markers narrowed the critical region to a 12-Mb interval between 65.21 and 77.85 Mb from pter.
In 2 Hmong families (families 3 and 4) showing clinical anophthalmia and bilateral pulmonary agenesis, in which affected individuals also had camptodactyly and digital contractures, Marcadier et al. (2015) performed SNP microarray and identified stretches of homozygosity overlapping STRA6 at chromosome 15q24.1.
Molecular Genetics
In 5 families with syndromic clinical anophthalmia, Pasutto et al. (2007) detected homozygosity for mutations in the STRA6 gene (610745). A homozygous deletion generating a premature stop codon (G50AfsX22; 610745.0002) led to absence of the immunoreactive protein in the patient's fibroblast culture. Structural analysis of 3 missense mutations (P90L, 610745.0005; P293L, 610745.0001; and T321P, 610745.0005) suggested significant effects on the geometry of the loop connecting the transmembrane helices of STRA6. Two further variations in the C terminus (T644M, 610745.0004 and R655C, 610745.0003) altered specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the STRA group.
Pasutto et al. (2007) suggested that the clinical anophthalmia syndrome that they described and showed to be caused by mutations in the STRA6 gene may be the same disorder as that known as Matthew-Wood syndrome. Sequence analysis of STRA6 in a patient with the full clinical picture of Matthew-Wood syndrome, including cleft palate, hypoplastic alae nasi, hypoplastic spleen, and bicornuate uterus, revealed no mutation.
Martinovic-Bouriel et al. (2007) studied 2 familial cases of Matthew-Wood syndrome and excluded mutations in the FGF10 (602115) and FGFR2 (see 176943) genes. Golzio et al. (2007) restudied these 2 families as well as 5 fetuses presenting at least 1 of the 2 major signs of clinical anophthalmia or pulmonary hypoplasia and at least 1 of the 2 associated signs of diaphragmatic closure defect or cardiopathy for mutations in the STRA6 gene. The 2 fetuses from consanguineous families had either a homozygous insertion/deletion in exon 2 (610745.0007) or a homozygous insertion in exon 7 (610745.0008) predicting a premature stop codon in STRA6 transcripts. The other 5 fetuses had no STRA6 mutations.
Using DNA extracted from a paraffin block of autopsy tissue from a male infant with clinical anophthalmia and diaphragmatic eventration, who was originally reported by Steiner et al. (2002), West et al. (2009) identified compound heterozygosity for a 2-bp insertion and a nonsense mutation, both in exon 2 of the STRA6 gene (610745.0009 and 610745.0010).
Segel et al. (2009) reported a 2.5-year-old girl with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal motor and cognitive development who was compound heterozygous for 2 missense mutations in the STRA6 gene (610745.0012 and 610745.0013). Noting the milder clinical phenotype in this patient compared to previously reported patients, the authors concluded that the phenotypic spectrum of STRA6 mutations might be broader than originally suspected, with clinical anophthalmia being the major phenotypic effect, which may be associated with normal psychomotor development.
In a large consanguineous Irish Traveller family with isolated microphthalmia and coloboma (MCOPCB8), Casey et al. (2011) performed genomewide SNP homozygosity analysis and identified 4 runs of homozygosity on chromosome 15q23-q24.1 that were exclusively shared by MCOPCB-affected family members. Sequencing of DNA in the interval of interest revealed a homozygous missense mutation in the STRA6 gene (G304K; 610745.0011) that segregated with disease in the family. There were 9 affected family members over 2 generations who had varying degrees of microphthalmia and coloboma. All had normal cranial and abdominal ultrasounds, normal intellectual development, and no extraocular defects were observed. Homozygosity for the same G304K mutation was identified in 2 more Irish Traveller probands, a boy with severe bilateral microphthalmia and dysplastic right kidney, and a girl who fulfilled the criteria for Matthew-Wood syndrome, with bilateral clinical anophthalmia, absent pulmonary valves, polysplenia, absent uterus, and hydronephrosis with ureteroceles. The girl had a brother who had only bilateral clinical anophthalmia, but he was not available for study.
Chassaing et al. (2013) analyzed the STRA6 gene in 28 cases with clinical anophthalmia, including 7 cases of isolated anophthalmia, 14 cases in which it was associated with 1 of the major features of PDAC, and 7 cases with other abnormalities. They identified 2 patients with bilateral anophthalmia and mutations in STRA6 (see, e.g., 610745.0014): the first, who was compound heterozygous for a missense mutation and a large intragenic deletion, showed some of the features of PDAC, whereas the second, who was homozygous for a splicing mutation, exhibited all the major features of PDAC.
In 2 unrelated Hmong patients (patients 5 and 6, from families 3 and 4) with clinical anophthalmia and bilateral pulmonary agenesis mapping to chromosome 15q24, Marcadier et al. (2015) sequenced the STRA6 gene and identified homozygosity in both patients for the same splice site mutation (610745.0015). Affected individuals from the 2 families also exhibited camptodactyly and digital contractures, expanding the phenotypic variability observed in patients with STRA6 mutations.
Heterogeneity
Chitayat et al. (2007) sequenced the STRA6 gene in a 9.5-year-old boy and in 1 of 3 sibs with PDAC syndrome but did not detect any mutations, suggesting genetic heterogeneity (see MCOPS12, 615524).
Animal Model
Using a retinoic acid (RA) synthesis inhibitor in zebrafish embryos, Casey et al. (2011) modeled different levels of RA and observed dose-dependent microphthalmia. The inhibitor produced developmental eye defects ranging from mild to severe microphthalmia as well as retinal pigment epithelium coloboma, also in a range of severity. Other developmental defects were visible, including defects in heart morphogenesis, consistent with the role of RA in multiple developmental processes.
Nomenclature
The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (Francois, 1961). The diagnosis can only be made histologically (Reddy et al., 2003; Morini et al., 2005; Smartt et al., 2005), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.'
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Intrauterine growth retardation (IUGR) HEAD & NECK Face \- Micrognathia (uncommon) Ears \- Large, low-set ears (uncommon) Eyes \- Anophthalmia, clinical \- Microphthalmia, bilateral (isolated feature in some patients) \- Blepharophimosis (uncommon) \- Broad, flared eyebrows \- Only upward-growing eyebrows (uncommon) \- Hypoplasia or absence of optic nerve \- Coloboma, isolated (in some patients) Nose \- Broad nasal bridge (uncommon) CARDIOVASCULAR Heart \- Ventricular septal defect \- Atrial septal defect \- Hypoplastic left atrium \- Single ventricle \- Dilation of atrium \- Dilation of ventricle \- Small ventricle \- Pulmonic valve stenosis (rare) Vascular \- Patent ductus arteriosus \- Agenesis of pulmonary vessels \- Pulmonary artery atresia (rare) \- Alveolar capillary dysplasia (rare) \- Tetralogy of Fallot (rare) \- Coarctation of aorta (rare) \- Truncus arteriosus communis (rare) \- Right aortic arch (rare) RESPIRATORY Lung \- Pulmonary hypoplasia, usually bilateral \- Pulmonary agenesis, usually bilateral \- Respiratory insufficiency \- Alveolar capillary dysplasia \- Unilobular lung CHEST Diaphragm \- Diaphragmatic hernia \- Diaphragmatic eventration ABDOMEN Spleen \- Hypoplastic spleen \- Multilobulated spleen GENITOURINARY External Genitalia (Male) \- Inguinal hernia Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Hypoplastic, bicornuate uterus \- Streak ovaries Kidneys \- Horseshoe kidney \- Hydronephrosis \- Pelvic kidney \- Hypoplastic kidney \- Malrotation of kidney \- Hypoplastic renal arteries (rare) SKELETAL Hands \- Digital contractures (in some patients) Feet \- Claw-like toes (in some patients) SKIN, NAILS, & HAIR Hair \- Only upward-growing eyebrows (uncommon) NEUROLOGIC Central Nervous System \- Mental retardation, profound \- Hypotonia MISCELLANEOUS \- Early lethality in most cases MOLECULAR BASIS \- Caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (STRA6, 610745.0007 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROPHTHALMIA, SYNDROMIC 9 | c2931501 | 28,896 | omim | https://www.omim.org/entry/601186 | 2019-09-22T16:15:16 | {"doid": ["0050819"], "mesh": ["C537463"], "omim": ["601186"], "orphanet": ["98938", "2470"], "synonyms": ["Alternative titles", "ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM", "ANOPHTHALMIA/MICROPHTHALMIA AND PULMONARY HYPOPLASIA", "PULMONARY HYPOPLASIA-DIAPHRAGMATIC HERNIA-ANOPHTHALMIA-CARDIAC DEFECT", "SPEAR SYNDROME", "MATTHEW-WOOD SYNDROME", "PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT"], "genereviews": ["NBK1378"]} |
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 13q12.3 microdeletion syndrome | None | 28,897 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412035 | 2021-01-23T19:10:35 | {"icd-10": ["Q93.5"], "synonyms": ["Del(13)(q12.3)", "Monosomy 13q12.3"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (November 2016)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Pleurothotonus" – news · newspapers · books · scholar · JSTOR (March 2020) (Learn how and when to remove this template message)
Pleurothotonus
Other namesPisa syndrome
Pleurothotonus, commonly known as Pisa syndrome, is a rare neurological disorder which occurs due to prolonged exposure to antipsychotic drugs (which may also be referred to as neuroleptics). It is characterized by dystonia, and abnormal and sustained involuntary muscle contraction. This may cause twisting or jerking movements of the body or a body part. Although Pisa syndrome develops most commonly in those undergoing long-term treatment with antipsychotics, it has been reported less frequently in patients receiving other medications, such as an acetylcholinesterase inhibitor. However, it has also been seen in those with other diseases causing neurodegeneration and in those who are not receiving any medication (idiopathic Pisa syndrome). The characteristic development of Pisa syndrome consists of two types of dystonia: acute dystonia and tardive dystonia (also known as tardive dyskinesia). The underlying pathology of drug-induced Pisa syndrome is very complex, and development may be due to an underlying dopaminergic-cholinergic imbalance, or serotonergic/noradrenergic dysfunction.[1][2][3]
## Contents
* 1 Symptoms
* 1.1 Acute dystonia
* 1.2 Tardive dyskinesia
* 2 Causes
* 3 Risk factors
* 4 Diagnosis
* 5 Treatment and Medication
* 5.1 Reduction of drug dosage
* 5.2 Anticholinergic drugs
* 6 History
* 7 Further research
* 8 See also
* 9 References
## Symptoms[edit]
The predominant symptom of Pisa syndrome is dystonia. Dystonia is a neurological movement disorder characterized by sustained muscle contraction leading to abnormal posture, twisting, and repetitive movement. In Pisa Syndrome specifically there is commonly a tonic flexion of the trunk of the body to one side, leading to a slight lean (reminiscent of the Leaning Tower of Pisa, hence the name "Pisa syndrome"). This is usually associated with a backward axial rotation of the spine and indifferent to markedly abnormal posture. Patients diagnosed with Pisa Syndrome usually experience either acute dystonia or tardive dystonia, also known as tardive dyskinesia. Differential diagnosis between the two may be hard to accomplish without a complete patient history, since both types of dystonia may occur simultaneously in a patient. These symptoms generally disappear after discontinuation of the antipsychotic drug. The time of onset of symptoms may vary depending on drug being administered and the neurological characteristics of the patient in question.[2]
### Acute dystonia[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (March 2020) (Learn how and when to remove this template message)
Acute dystonia nearly always develops a few weeks after a dopamine blocking agent/medication has begun or a substantial increase in antipsychotic dosage. An acute dystonic reaction consists of sustained, painful muscular spasms, producing twisting of the trunk/body and abnormal posture. The most frequent occurrences of these spasms have been reported in the neck, tongue, and jaw. Oculogyric crisis and opisthotonus are also very common. Acute effects of dopamine antagonists also include Parkinsons-like symptoms, manifested by bradykinesia, pin rolling tremor, and rigidity of the body. These movements may fluctuate over hours and temporarily dissipate in response to reassurance, and the individual episodes may last minutes to hours. Acute reactions are more common in older patients and females. The pathophysiology underlying these reactions is unknown, but the movements usually occur during the period when blood medication level is dropping. The acute syndromes which occur due to prolonged exposure to a dopamine antagonist are collectively termed extrapyramidal symptoms, EPS.
### Tardive dyskinesia[edit]
Tardive dyskinesias are involuntary movements of the lips, tongue, face, trunk, and extremities which occur in patients with prolonged exposure to dopamine antagonists or antipsychotic medications. Clinical findings have provided evidence that adenosine, a major inhibitory neurotransmitter in the central nervous system, plays a role in the development of tardive dykinesias.[4] Tardive dykinesias have also been associated with polymorphism in the dopamine receptor D2 gene, dopamine receptor D3 gene, dopamine transporter (DAT) gene, and manganese superoxide dismutase (MnSOD) gene.[5][6] Tardive dyskinesias are chronic compared to acute dystonia, which occur in an episodic fashion.
## Causes[edit]
Pisa syndrome is predominantly caused by a prolonged administration or an overly dosed administration of antipsychotic drugs. Although antipsychotic drugs are known to be the main drugs that are concerned with this syndrome, several other drugs are reported to have caused the syndrome as well. Certain antidepressants, psychoactive drugs, and antiemetics have also been found to cause Pisa syndrome in patients.[7]
Drugs found to have caused Pisa Syndrome:
* Atypical antipsychotic drugs- ex. clozapine, aripiprazole
* Tricyclic antidepressants\- ex. clomipramine
* Psychoactive drugs
* Antiemetic drugs
* Cholinesterase inhibitors[8]
* Galantamine[8]
Based on the drugs that caused Pisa syndrome, it has been implicated that the syndrome may be due to a dopaminergic-cholinergic imbalance or a serotonergic or noradrenergic dysfunction.[citation needed] For the development of Pisa syndrome that cannot be alleviated by anticholinergic drugs, it has been considered that asymmetric brain functions or neural transmission may be the underlying mechanism.[citation needed] How these drugs interact with the biochemistry of the brain to cause the syndrome is unknown and a topic of current research.[citation needed]
## Risk factors[edit]
Typically, females and older patients with organic brain changes are more likely to develop Pisa syndrome. Organic brain changes are physical changes in the brain which lead to neurological dysfunction, including dementia and frontal lobe syndrome. This includes the presence of neurodegenerative illnesses such as Alzheimer's disease and Parkinson's disease.[9]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (October 2017)
## Treatment and Medication[edit]
There are two lines of treatment for Pisa syndrome. The first line entails discontinuation or reduction in dose of the antipsychotic drug(s). The second line of treatment is an anticholinergic medication. A pharmacological therapy for Pisa syndrome caused by prolonged use of antipsychotic drugs has not been established yet.[10]
### Reduction of drug dosage[edit]
Reducing the dosage of the antipsychotic drugs resulted in gradual improvement in the abnormal posture. In some cases, discontinuing the use of those drugs resulted in complete disappearance of the syndrome. The time it took for the improvement and the disappearance of the syndrome depended on the type of drug being administered or the specific cause of the syndrome itself.[10]
### Anticholinergic drugs[edit]
Anticholinergic drugs have been reported to be extremely effective in 40% of the patients with the Pisa syndrome.[citation needed] Patients with Pisa syndrome that is resistant to anticholinergic drugs is mostly resolved by the reduction of the administration of the antipsychotic drugs as previously mentioned. While the specific pathology underlying idiopathic Pisa syndrome is unknown, the administration of anticholinergic drugs has provided resolution in known cases.[10]
## History[edit]
Pisa syndrome was discovered by Karl Axel Ekbom, a Swedish neurologist, in the early 1970s. Cases of the syndrome were first observed in three elderly female patients suffering from presenile dementia. Each of these women were undergoing treatment with the antipsychotic drug methylperone, haloperidol or a combination of the two. The use of neuroleptic drugs caused the patients to exhibit a lateral flexion along with a rotation of the trunk. As the patients walked they experienced an increase in rotation. The postural and gait disturbances symptoms is what set this apart from any other form of acute dystonia previously observed. These symptoms proved to be the making of a new dystonic reaction, which was termed pleurothotonus or Pisa syndrome.[11]
The first patient, a 59-year-old woman with no family history of neuroleptic disease, was put through two periods of treatment with methylperone. The first trial of the drug was administered in February 1971. In the beginning the patient demonstrated no symptoms of dystonia. However, within the first few days the patient began to exhibit a tilting to right upon walking. The women was then taken off the methylperone treatment and as a result progressively regressed back to her previous state of exhibiting no symptoms within the first two months. The patient started a second trial of methylperone treatment in late October 1971. After a little over a week of the drug treatment, she began to express previous symptoms that including a bending of the trunk towards the right along with a rotation. The patient also experienced a pulling away from her direction of walking and a difficulty of turning. Within a couple of days of exhibiting symptoms, the patient was then treated with orphenadrine. This treatment helped regress the expressed symptoms quicker than the first time. By the end of the week the patient was able to return to her normal state.[11]
The second patient to undergo methylperone treatment was a 63-year-old woman with presenile dementia, which caused her to experience restlessness and paranoid hallucinations. The methylperone treatment was able to alleviate the woman's problems induced by her dementia. It did not take long for the woman to begin to experience symptoms of Pisa syndrome and as a result she was taken off of the methylperone treatment. Like the first patient, she was able to overcome the induced symptoms of Pisa syndrome within a month. The patient was again treated with methylperone after two months from the first treatment. Soon after the patient began to lean toward the right when standing or walking. She was then administered orphenadrine, which soon stopped the patient's tilting posture.[11]
The final patient was a 69-year-old woman, diagnosed with presenile dementia after she expressing symptoms of memory dysfunction, depression and urinary incontinence. As a result, the woman was put under a methylperone treatment, which soon caused a bending and rotation to her left. These symptoms disappeared soon after being taken off of methylperone. Unlike the other two patients, when the woman was again administered methylperone she did not exhibit any previous dystonic symptoms after two weeks of treatment. The patient was then switched to a small dosage of haloperidol along with the typical dosage of orphenadrine used on the previous patients. Instead of not having symptoms of Pisa syndrome, the woman began to experience a leaning to her left side and a particular rotation of her shoulder towards the left. Once haloperidol was eliminated from the treatment the patient no longer had these symptoms.[11]
As more cases of the syndrome came about, research discovered that the switching of drug treatments can be debated as a possible inducer of the disease.[citation needed] Other cases of the disease have been proven to be caused by medications other than neuroleptic drugs.[citation needed] These patients were observed exhibiting symptoms of Pisa syndrome as a result of having a prior neurodegenerative disease.[citation needed]
## Further research[edit]
Current research has been focusing on discovering the underlying mechanisms of Pisa syndrome, since little is known about the biological and pharmacological reasons Pisa syndrome occurs (although theories about dopaminergic dysfunction have been suggested). While Pisa syndrome is mostly associated with antipsychotic drugs, there have been incidents of idiopathic Pisa Syndrome, the development of Pisa syndrome in those with other neurological disorders, and Pisa syndrome in those with intellectual disability.[12] Future research hopes to pinpoint the essential neurological disorder or disorders underlying the development of Pisa syndrome so more that more effective medication and treatment may be created and/or administered.[citation needed]
## See also[edit]
* Dystonia
* Opisthotonus
* Camptocormia
* Tardive dyskinesia
* Multiple system atrophy
## References[edit]
1. ^ Van Harten: Ned Tijdschr Geneeskd. 1997 Jul 26;141(30):1471-4
2. ^ a b Nishimura, K: Pisa Syndrome Resolved After Switching to Olanzapine. Journal of Neuropsychiatry and Clinical Neuroscience 2007; 19:202-203
3. ^ M. Amore, M. Cerisoli, S. Campanile, A. Campanile: Pisa Syndrome. Report of a Case. Italian Journal of Neurological Sciences 1988; 9:273-274.
4. ^ Bishnoi M, Chopra K, Kulkarni SK. Involvement of adenosinergic receptor system in an animal model of tardive dyskinesia and associated behavioural, biochemical and neurochemical changes. Eur J Pharmacol. Dec 15 2006;552(1-3):55-66.
5. ^ Lafuente A, Bernardo M, Mas S, et al. Dopamine transporter (DAT) genotype (VNTR) and phenotype in extrapyramidal symptoms induced by antipsychotics. Schizophr Res. Feb 2007;90(1-3):115-22.
6. ^ Liou YJ, Lai IC, Liao DL, et al. The human dopamine receptor D2 (DRD2) gene is associated with tardive dyskinesia in patients with schizophrenia. Schizophr Res. Sep 2006;86(1-3):323-5
7. ^ Suzuki et al., 1997 T. Suzuki, H. Kurita, T. Hori, M. Sasaki, A. Baba and H. Shiraishi, et al. The Pisa syndrome (pleurothotonus) during antidepressant therapy. Biol Psychiatry, 41 (1997), pp. 234–236.
8. ^ a b Cossu et al., 2004 G. Cossu, M. Melis, G. Melis, E. Maccioni, V. Putzu, O. Catte, PF. Putzu, Reversible Pisa syndrome (pleurothotonus) due to the cholinesterase inhibitor galantamine: case report. Department of Neuroscience, Oct;19(10):1243-4.
9. ^ Lamparska A, Smoczyński S. Psychotic syndromes in patients with organic brain damage in the light of clinical analysis. Psychiatr Pol. 1990 Jul-Aug;24(4):1-6.
10. ^ a b c Suzuki et al., 2002 T. Suzuki, H. Matsuzaka, et al. Drug-induced Pisa syndrome (pleurothotonus): epidemiology and management. Department of Psychiatry, 16(3) (2002), pp. 165-74.
11. ^ a b c d K. Ekbom, H. Lindholm and L. Ljungerberg, New dystonic syndrome associated with butyrophenone therapy. Z Neurol, 202 (1972), pp. 94–103.
12. ^ Ulhaq, Inam, et al. Case Report: Pisa Syndrome in Patients with Intellectual Disability. Mental Health and Learning Disabilities: Research and Practice. 2010, v.7, pg. 59-63.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pleurothotonus | c0920233 | 28,898 | wikipedia | https://en.wikipedia.org/wiki/Pleurothotonus | 2021-01-18T18:49:07 | {"umls": ["C0920233", "C0520821"], "wikidata": ["Q7204832"]} |
Postpartum thyroiditis
SpecialtyObstetrics
Postpartum thyroiditis refers to thyroid dysfunction occurring in the first 12 months after pregnancy[1] and may involve hyperthyroidism, hypothyroidism or the two sequentially. According to the National Institute of Health, postpartum thyroiditis affects about 8% of pregnancies. [2] There are, however, different rates reported globally. This is likely due to the differing amounts of average postpartum follow times around the world, and due to our own innate differences. For example, in Bangkok, Thailand the rate is 1.1%, but in Brazil it's 13.3% [2] The first phase is typically hyperthyroidism. Then, the thyroid either returns to normal or a woman develops hypothyroidism. Of those women who experience hypothyroidism associated with postpartum thyroiditis, one in five will develop permanent hypothyroidism requiring lifelong treatment.
Postpartum thyroiditis is believed to result from the modifications to the immune system necessary in pregnancy, and histologically is a subacute lymphocytic thyroiditis. The process is normally self-limiting, but when conventional antibodies are found there is a high chance of this proceeding to permanent hypothyroidism. Postpartum thyroiditis is a member of the group of thyroiditis conditions known as resolving thyroiditis.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prevalence
* 6 References
## Signs and symptoms[edit]
The initial phase of hyperthyroid symptoms occurs transiently about two to six months postpartum.[3] Typical symptoms include irritability, nervousness, palpitations, and heat intolerance. Hormonal disturbances during this phase tend to occur with lower intensity compared with the hypothyroid phase.[3] As a result, the hyperthyroid phase may pass undetected. The second phase of hypothyroid symptoms is also transient and can occur anytime within the three- to twelve-month period postpartum.[3] Women in this phase experience low energy, poor memory, impaired concentration, carelessness, dry skin, cold intolerance, and general aches and pains. After one year postpartum, euthyroid function resumes. Any case with hypothyroid symptoms extending beyond one year postpartum is not considered postpartum thyroiditis.[3]
Women who test positive for thyroid antibodies may be at increased risk of developing symptoms associated with postpartum depression than women without thyroid antibodies.[4]
## Cause[edit]
During pregnancy, immunologic suppression occurs which induces tolerance to the presence of the fetus.[5] Without this suppression, the fetus would be rejected causing miscarriage.[5] As a result, following delivery, the immune system rebounds causing levels of thyroids antibodies to rise in susceptible women.[6]
Specifically, the immunohistological features of susceptible women are indicated by:[5]
* antibodies to thyroglobulin (TgAb)
* antibodies to thyroid peroxidase (TPOAb)
* increase in TPOAb subclasses IgG1-IgG3
* lymphocyte infiltration and follicle formation within thyroid gland (Hashimoto's thyroiditis)
* T-cell changes (increased CD4:CD8 ratio)
* TSH-receptor antibodies (TSH-R Abs)
## Diagnosis[edit]
This condition is commonly undiagnosed by physicians due to either unfamiliarity with the disease, the subtlety of symptoms, or the attribution of the symptoms to the stresses of having a newborn.[6] Usual screening begins with assessing the thyroid stimulating hormone (TSH) level. A suppressed TSH could represent the hyperthyroid phase, but warrants further testing to investigate for possible Graves' disease.[6] A normal TSH with persistent symptoms could represent the shift between phases and requires repeat testing 4–6 weeks later; an elevated TSH at this time could indicate the hypothyroid phase.[6]
## Treatment[edit]
For most women, the hyperthyroid phase presents with very mild symptoms or is asymptomatic; intervention is usually not required. If symptomatic cases require treatment, a short course of beta-blockers would be effective.[3]
Assessing treatment for the hypothyroid is more complex. Women with symptoms or a very high TSH level, or both, are usually prescribed a course of levothyroxine.[3] Asymptomatic women with slightly elevated TSH levels who are planning subsequent pregnancies, should consider a course of treatment until completion of the family to avoid possible developmental complications in future children.[3] Otherwise, treatment could be discontinued after 1 year postpartum.[citation needed]
## Prevalence[edit]
Women with type I diabetes mellitus have a threefold increase in the prevalence of postpartum thyroiditis than non-diabetic women in the same region.[3]
According to Johns Hopkins, 3 in 100 women develop postpartum thyroiditis. Some risk factors include antithyroid antibodies, type 1 diabetes, history of thyroid problems, and family history of thyroid problems. According to the National Institute of Health, postpartum thyroiditis is especially common in Pakistan because it is an iodine-deficient country,
## References[edit]
1. ^ Muller AF, Drexhage HA, Berghout A (October 2001). "Postpartum thyroiditis and autoimmune thyroiditis in women of childbearing age: recent insights and consequences for antenatal and postnatal care". Endocr. Rev. 22 (5): 605–30. doi:10.1210/er.22.5.605. PMID 11588143.
2. ^ a b Keely, Erin Joanne (March 2011). "Postpartum thyroiditis: an autoimmune thyroid disorder which predicts future thyroid health". Obstetric Medicine. 4 (1): 7–11. doi:10.1258/om.2010.100041. ISSN 1753-495X. PMC 4989649. PMID 27579088.
3. ^ a b c d e f g h Stagnaro-Green, A. (2004). "Postpartum thyroiditis". Best Practice & Research Clinical Endocrinology & Metabolism. 18 (2): 303–316. doi:10.1016/j.beem.2004.03.008. PMID 15157842.
4. ^ Bokhari, R.; Bhatara, V.S.; Bandettini, F.; McMillan, J.M. (1998). "Postpartum psychosis and postpartum thyroiditis". Psychoneuroendocrinology. 23 (6): 643–650. doi:10.1016/S0306-4530(98)00034-1. PMID 9802134.
5. ^ a b c Premawardhana, L.D.K.E., Parkes, A.B., & Lazarus, J.H. (2004). Thyroiditis, postpartum. In Editor-in-Chief: Luciano Martini (Ed.), Encyclopedia of endocrine diseases (pp. 509–514). New York: Elsevier. doi:10.1016/B0-12-475570-4/01299-3
6. ^ a b c d Stagnaro-Green, A. (2000). Recognizing, understanding, and treating postpartum thyroiditis. Endocrinology & Metabolism Clinics of North America, 29(2), 417–430. doi:10.1016/S0889-8529(05)70140-7
Classification
D
* ICD-10: O90.5
* MeSH: D050032
* DiseasesDB: 10441
* SNOMED CT: 52772002
* v
* t
* e
Thyroid disease
Hypothyroidism
* Iodine deficiency
* Cretinism
* Congenital hypothyroidism
* Myxedema
* Myxedema coma
* Euthyroid sick syndrome
* Signs and symptoms
* Queen Anne's sign
* Woltman sign
* Thyroid dyshormonogenesis
* Pickardt syndrome
Hyperthyroidism
* Hyperthyroxinemia
* Thyroid hormone resistance
* Familial dysalbuminemic hyperthyroxinemia
* Hashitoxicosis
* Thyrotoxicosis factitia
* Thyroid storm
Graves' disease
* Signs and symptoms
* Abadie's sign of exophthalmic goiter
* Boston's sign
* Dalrymple's sign
* Stellwag's sign
* lid lag
* Griffith's sign
* Möbius sign
* Pretibial myxedema
* Graves' ophthalmopathy
Thyroiditis
* Acute infectious
* Subacute
* De Quervain's
* Subacute lymphocytic
* Palpation
* Autoimmune/chronic
* Hashimoto's
* Postpartum
* Riedel's
Enlargement
* Goitre
* Endemic goitre
* Toxic nodular goitre
* Toxic multinodular goiter
* Thyroid nodule
* Colloid nodule
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
“Postpartum Thyroiditis.” Johns Hopkins Medicine, www.hopkinsmedicine.org/health/conditions-and-diseases/postpartum-thyroiditis. Afzal, Rafia. “Thyroid disorders in pregnancy: An overview of literature from Pakistan.” Indian journal of endocrinology and metabolism vol. 17,5 (2013): 943-5. doi:10.4103/2230-8210.117202
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Postpartum thyroiditis | c0271815 | 28,899 | wikipedia | https://en.wikipedia.org/wiki/Postpartum_thyroiditis | 2021-01-18T19:00:00 | {"mesh": ["D050032"], "icd-10": ["O90.5"], "wikidata": ["Q16488"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.