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For other uses, see Asthma (disambiguation).
Long-term inflammatory disease of the airways of the lungs
Asthma
Peak flow meters are used to measure the peak expiratory flow rate, important in both monitoring and diagnosing asthma.[1]
SpecialtyPulmonology
SymptomsRecurring episodes of wheezing, coughing, chest tightness, shortness of breath[2]
ComplicationsGastro-esophageal reflux disease (GERD), sinusitis, obstructive sleep apnea
Usual onsetChildhood
DurationLong term[3]
CausesGenetic and environmental factors[4]
Risk factorsAir pollution, allergens[3]
Diagnostic methodBased on symptoms, response to therapy, spirometry[5]
TreatmentAvoiding triggers, inhaled corticosteroids, salbutamol[6][7]
Frequency358 million (2015)[8]
Deaths397,100 (2015)[9]
Asthma is a long-term inflammatory disease of the airways of the lungs.[3] It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms.[10][11] Symptoms include episodes of wheezing, coughing, chest tightness, and shortness of breath.[2] These may occur a few times a day or a few times per week.[3] Depending on the person, asthma symptoms may become worse at night or with exercise.[3]
Asthma is thought to be caused by a combination of genetic and environmental factors.[4] Environmental factors include exposure to air pollution and allergens.[3] Other potential triggers include medications such as aspirin and beta blockers.[3] Diagnosis is usually based on the pattern of symptoms, response to therapy over time, and spirometry lung function testing.[5] Asthma is classified according to the frequency of symptoms, forced expiratory volume in one second (FEV1), and peak expiratory flow rate.[12] It may also be classified as atopic or non-atopic, where atopy refers to a predisposition toward developing a type 1 hypersensitivity reaction.[13][14]
There is no cure for asthma.[3] Symptoms can be prevented by avoiding triggers, such as allergens and irritants, and by the use of inhaled corticosteroids.[6][15] Long-acting beta agonists (LABA) or antileukotriene agents may be used in addition to inhaled corticosteroids if asthma symptoms remain uncontrolled.[16][17] Treatment of rapidly worsening symptoms is usually with an inhaled short-acting beta-2 agonist such as salbutamol and corticosteroids taken by mouth.[7] In very severe cases, intravenous corticosteroids, magnesium sulfate, and hospitalization may be required.[18]
In 2015, 358 million people globally had asthma, up from 183 million in 1990.[8][19] It caused about 397,100 deaths in 2015,[9] most of which occurred in the developing world.[3] Asthma often begins in childhood,[3] and the rates have increased significantly since the 1960s.[20] Asthma was recognized as early as Ancient Egypt.[21] The word "asthma" is from the Greek ἅσθμα, ásthma, which means "panting".[22]
## Contents
* 1 Signs and symptoms
* 1.1 Associated conditions
* 2 Causes
* 2.1 Environmental
* 2.1.1 Hygiene hypothesis
* 2.2 Genetic
* 2.3 Medical conditions
* 2.4 Exacerbation
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Spirometry
* 4.2 Others
* 4.3 Classification
* 4.3.1 Asthma exacerbation
* 4.3.2 Exercise-induced
* 4.3.3 Occupational
* 4.3.4 Aspirin-induced asthma
* 4.3.5 Alcohol-induced asthma
* 4.3.6 Non-atopic asthma
* 4.4 Differential diagnosis
* 5 Prevention
* 6 Management
* 6.1 Lifestyle modification
* 6.2 Medications
* 6.2.1 Fast–acting
* 6.2.2 Long–term control
* 6.2.3 Delivery methods
* 6.2.4 Adverse effects
* 6.3 Others
* 6.4 Alternative medicine
* 7 Prognosis
* 8 Epidemiology
* 9 Economics
* 10 History
* 11 References
* 11.1 Notes
* 12 External links
## Signs and symptoms
Wheezing
The sound of wheezing as heard with a stethoscope.
* * *
Problems playing this file? See media help.
Asthma is characterized by recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing.[23] Sputum may be produced from the lung by coughing but is often hard to bring up.[24] During recovery from an asthma attack (exacerbation), it may appear pus-like due to high levels of white blood cells called eosinophils.[25] Symptoms are usually worse at night and in the early morning or in response to exercise or cold air.[26] Some people with asthma rarely experience symptoms, usually in response to triggers, whereas others may react frequently and readily and experience persistent symptoms.[27]
### Associated conditions
A number of other health conditions occur more frequently in people with asthma, including gastro-esophageal reflux disease (GERD), rhinosinusitis, and obstructive sleep apnea.[28] Psychological disorders are also more common,[29] with anxiety disorders occurring in between 16–52% and mood disorders in 14–41%.[30] It is not known whether asthma causes psychological problems or psychological problems lead to asthma.[31] Those with asthma, especially if it is poorly controlled, are at increased risk for radiocontrast reactions.[32]
Cavities occur more often in people with asthma.[33] This may be related to the effect of beta 2 agonists decreasing saliva.[34] These medications may also increase the risk of dental erosions.[34]
## Causes
Asthma is caused by a combination of complex and incompletely understood environmental and genetic interactions.[4][35] These influence both its severity and its responsiveness to treatment.[36] It is believed that the recent increased rates of asthma are due to changing epigenetics (heritable factors other than those related to the DNA sequence) and a changing living environment.[37] Asthma that starts before the age of 12 years old is more likely due to genetic influence, while onset after age 12 is more likely due to environmental influence.[38]
### Environmental
See also: Asthma-related microbes
Many environmental factors have been associated with asthma's development and exacerbation, including, allergens, air pollution, and other environmental chemicals.[39] Smoking during pregnancy and after delivery is associated with a greater risk of asthma-like symptoms.[40] Low air quality from environmental factors such as traffic pollution or high ozone levels[41] has been associated with both asthma development and increased asthma severity.[42] Over half of cases in children in the United States occur in areas when air quality is below the EPA standards.[43] Low air quality is more common in low-income and minority communities.[44]
Exposure to indoor volatile organic compounds may be a trigger for asthma; formaldehyde exposure, for example, has a positive association.[45] Phthalates in certain types of PVC are associated with asthma in both children and adults.[46][47] While exposure to pesticides is linked to the development of asthma, a cause and effect relationship has yet to be established.[48][49]
The majority of the evidence does not support a causal role between acetaminophen (paracetamol) or antibiotic use and asthma.[50][51] A 2014 systematic review found that the association between acetaminophen use and asthma disappeared when respiratory infections were taken into account.[52] Acetaminophen use by a mother during pregnancy is also associated with an increased risk of the child developing asthma.[53] Maternal psychological stress during pregnancy is a risk factor for the child to develop asthma.[54]
Asthma is associated with exposure to indoor allergens.[55] Common indoor allergens include dust mites, cockroaches, animal dander (fragments of fur or feathers), and mold.[56][57] Efforts to decrease dust mites have been found to be ineffective on symptoms in sensitized subjects.[58][59] Weak evidence suggests that efforts to decrease mold by repairing buildings may help improve asthma symptoms in adults.[60] Certain viral respiratory infections, such as respiratory syncytial virus and rhinovirus,[22] may increase the risk of developing asthma when acquired as young children.[61] Certain other infections, however, may decrease the risk.[22]
#### Hygiene hypothesis
The hygiene hypothesis attempts to explain the increased rates of asthma worldwide as a direct and unintended result of reduced exposure, during childhood, to non-pathogenic bacteria and viruses.[62][63] It has been proposed that the reduced exposure to bacteria and viruses is due, in part, to increased cleanliness and decreased family size in modern societies.[64] Exposure to bacterial endotoxin in early childhood may prevent the development of asthma, but exposure at an older age may provoke bronchoconstriction.[65] Evidence supporting the hygiene hypothesis includes lower rates of asthma on farms and in households with pets.[64]
Use of antibiotics in early life has been linked to the development of asthma.[66] Also, delivery via caesarean section is associated with an increased risk (estimated at 20–80%) of asthma – this increased risk is attributed to the lack of healthy bacterial colonization that the newborn would have acquired from passage through the birth canal.[67][68] There is a link between asthma and the degree of affluence which may be related to the hygiene hypothesis as less affluent individuals often have more exposure to bacteria and viruses.[69]
### Genetic
CD14-endotoxin interaction based on CD14 SNP C-159T[70] Endotoxin levels CC genotype TT genotype
High exposure Low risk High risk
Low exposure High risk Low risk
Family history is a risk factor for asthma, with many different genes being implicated.[71] If one identical twin is affected, the probability of the other having the disease is approximately 25%.[71] By the end of 2005, 25 genes had been associated with asthma in six or more separate populations, including GSTM1, IL10, CTLA-4, SPINK5, LTC4S, IL4R and ADAM33, among others.[72] Many of these genes are related to the immune system or modulating inflammation. Even among this list of genes supported by highly replicated studies, results have not been consistent among all populations tested.[72] In 2006 over 100 genes were associated with asthma in one genetic association study alone;[72] more continue to be found.[73]
Some genetic variants may only cause asthma when they are combined with specific environmental exposures.[4] An example is a specific single nucleotide polymorphism in the CD14 region and exposure to endotoxin (a bacterial product). Endotoxin exposure can come from several environmental sources including tobacco smoke, dogs, and farms. Risk for asthma, then, is determined by both a person's genetics and the level of endotoxin exposure.[70]
### Medical conditions
A triad of atopic eczema, allergic rhinitis and asthma is called atopy.[74] The strongest risk factor for developing asthma is a history of atopic disease;[61] with asthma occurring at a much greater rate in those who have either eczema or hay fever.[75] Asthma has been associated with eosinophilic granulomatosis with polyangiitis (formerly known as Churg–Strauss syndrome), an autoimmune disease and vasculitis.[76] Individuals with certain types of urticaria may also experience symptoms of asthma.[74]
There is a correlation between obesity and the risk of asthma with both having increased in recent years.[77][78] Several factors may be at play including decreased respiratory function due to a buildup of fat and the fact that adipose tissue leads to a pro-inflammatory state.[79]
Beta blocker medications such as propranolol can trigger asthma in those who are susceptible.[80] Cardioselective beta-blockers, however, appear safe in those with mild or moderate disease.[81][82] Other medications that can cause problems in asthmatics are angiotensin-converting enzyme inhibitors, aspirin, and NSAIDs.[83] Use of acid suppressing medication (proton pump inhibitors and H2 blockers) during pregnancy is associated with an increased risk of asthma in the child.[84]
### Exacerbation
Some individuals will have stable asthma for weeks or months and then suddenly develop an episode of acute asthma. Different individuals react to various factors in different ways.[85] Most individuals can develop severe exacerbation from a number of triggering agents.[85]
Home factors that can lead to exacerbation of asthma include dust, animal dander (especially cat and dog hair), cockroach allergens and mold.[85][86] Perfumes are a common cause of acute attacks in women and children. Both viral and bacterial infections of the upper respiratory tract can worsen the disease.[85] Psychological stress may worsen symptoms – it is thought that stress alters the immune system and thus increases the airway inflammatory response to allergens and irritants.[42][87]
Asthma exacerbations in school‐aged children peak in autumn, shortly after children return to school. This might reflect a combination of factors, including poor treatment adherence, increased allergen and viral exposure, and altered immune tolerance. There is limited evidence to guide possible approaches to reducing autumn exacerbations, but while costly, seasonal omalizumab treatment from four to six weeks before school return may reduce autumn asthma exacerbations.[88]
## Pathophysiology
Main article: Pathophysiology of asthma
Asthma is the result of chronic inflammation of the conducting zone of the airways (most especially the bronchi and bronchioles), which subsequently results in increased contractability of the surrounding smooth muscles. This among other factors leads to bouts of narrowing of the airway and the classic symptoms of wheezing. The narrowing is typically reversible with or without treatment. Occasionally the airways themselves change.[23] Typical changes in the airways include an increase in eosinophils and thickening of the lamina reticularis. Chronically the airways' smooth muscle may increase in size along with an increase in the numbers of mucous glands. Other cell types involved include: T lymphocytes, macrophages, and neutrophils. There may also be involvement of other components of the immune system including: cytokines, chemokines, histamine, and leukotrienes among others.[22]
* Figure A shows the location of the lungs and airways in the body. Figure B shows a cross-section of a normal airway. Figure C shows a cross-section of an airway during asthma symptoms.
* Obstruction of the lumen of a bronchiole by mucoid exudate, goblet cell metaplasia, and epithelial basement membrane thickening in a person with asthma.
* Diagram of asthma
## Diagnosis
While asthma is a well-recognized condition, there is not one universal agreed upon definition.[22] It is defined by the Global Initiative for Asthma as "a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role. The chronic inflammation is associated with airway hyper-responsiveness that leads to recurrent episodes of wheezing, breathlessness, chest tightness and coughing particularly at night or in the early morning. These episodes are usually associated with widespread but variable airflow obstruction within the lung that is often reversible either spontaneously or with treatment".[23]
There is currently no precise test for the diagnosis, which is typically based on the pattern of symptoms and response to therapy over time.[5][22] Asthma may be suspected if there is a history of recurrent wheezing, coughing or difficulty breathing and these symptoms occur or worsen due to exercise, viral infections, allergens or air pollution.[89] Spirometry is then used to confirm the diagnosis.[89] In children under the age of six the diagnosis is more difficult as they are too young for spirometry.[90]
### Spirometry
Spirometry is recommended to aid in diagnosis and management.[91][92] It is the single best test for asthma. If the FEV1 measured by this technique improves more than 12% and increases by at least 200 milliliters following administration of a bronchodilator such as salbutamol, this is supportive of the diagnosis. It however may be normal in those with a history of mild asthma, not currently acting up.[22] As caffeine is a bronchodilator in people with asthma, the use of caffeine before a lung function test may interfere with the results.[93] Single-breath diffusing capacity can help differentiate asthma from COPD.[22] It is reasonable to perform spirometry every one or two years to follow how well a person's asthma is controlled.[94]
### Others
The methacholine challenge involves the inhalation of increasing concentrations of a substance that causes airway narrowing in those predisposed. If negative it means that a person does not have asthma; if positive, however, it is not specific for the disease.[22]
Other supportive evidence includes: a ≥20% difference in peak expiratory flow rate on at least three days in a week for at least two weeks, a ≥20% improvement of peak flow following treatment with either salbutamol, inhaled corticosteroids or prednisone, or a ≥20% decrease in peak flow following exposure to a trigger.[95] Testing peak expiratory flow is more variable than spirometry, however, and thus not recommended for routine diagnosis. It may be useful for daily self-monitoring in those with moderate to severe disease and for checking the effectiveness of new medications. It may also be helpful in guiding treatment in those with acute exacerbations.[96]
### Classification
Clinical classification (≥ 12 years old)[12] Severity Symptom frequency Night-time symptoms %FEV1 of predicted FEV1 variability SABA use
Intermittent ≤2/week ≤2/month ≥80% <20% ≤2 days/week
Mild persistent >2/week 3–4/month ≥80% 20–30% >2 days/week
Moderate persistent Daily >1/week 60–80% >30% daily
Severe persistent Continuously Frequent (7/week) <60% >30% ≥twice/day
Asthma is clinically classified according to the frequency of symptoms, forced expiratory volume in one second (FEV1), and peak expiratory flow rate.[12] Asthma may also be classified as atopic (extrinsic) or non-atopic (intrinsic), based on whether symptoms are precipitated by allergens (atopic) or not (non-atopic).[13] While asthma is classified based on severity, at the moment there is no clear method for classifying different subgroups of asthma beyond this system.[97] Finding ways to identify subgroups that respond well to different types of treatments is a current critical goal of asthma research.[97]
Although asthma is a chronic obstructive condition, it is not considered as a part of chronic obstructive pulmonary disease, as this term refers specifically to combinations of disease that are irreversible such as bronchiectasis and emphysema.[98] Unlike these diseases, the airway obstruction in asthma is usually reversible; however, if left untreated, the chronic inflammation from asthma can lead the lungs to become irreversibly obstructed due to airway remodeling.[99] In contrast to emphysema, asthma affects the bronchi, not the alveoli.[100]
#### Asthma exacerbation
Severity of an acute exacerbation[101] Near-fatal High PaCO2, or requiring mechanical ventilation, or both
Life-threatening
(any one of)
Clinical signs Measurements
Altered level of consciousness Peak flow < 33%
Exhaustion Oxygen saturation < 92%
Arrhythmia PaO2 < 8 kPa
Low blood pressure "Normal" PaCO2
Cyanosis
Silent chest
Poor respiratory effort
Acute severe
(any one of)
Peak flow 33–50%
Respiratory rate ≥ 25 breaths per minute
Heart rate ≥ 110 beats per minute
Unable to complete sentences in one breath
Moderate Worsening symptoms
Peak flow 50–80% best or predicted
No features of acute severe asthma
An acute asthma exacerbation is commonly referred to as an asthma attack. The classic symptoms are shortness of breath, wheezing, and chest tightness.[22] The wheezing is most often when breathing out.[102] While these are the primary symptoms of asthma,[103] some people present primarily with coughing, and in severe cases, air motion may be significantly impaired such that no wheezing is heard.[101] In children, chest pain is often present.[104]
Signs occurring during an asthma attack include the use of accessory muscles of respiration (sternocleidomastoid and scalene muscles of the neck), there may be a paradoxical pulse (a pulse that is weaker during inhalation and stronger during exhalation), and over-inflation of the chest.[105] A blue color of the skin and nails may occur from lack of oxygen.[106]
In a mild exacerbation the peak expiratory flow rate (PEFR) is ≥200 L/min, or ≥50% of the predicted best.[107] Moderate is defined as between 80 and 200 L/min, or 25% and 50% of the predicted best, while severe is defined as ≤ 80 L/min, or ≤25% of the predicted best.[107]
Acute severe asthma, previously known as status asthmaticus, is an acute exacerbation of asthma that does not respond to standard treatments of bronchodilators and corticosteroids.[108] Half of cases are due to infections with others caused by allergen, air pollution, or insufficient or inappropriate medication use.[108]
Brittle asthma is a kind of asthma distinguishable by recurrent, severe attacks.[101] Type 1 brittle asthma is a disease with wide peak flow variability, despite intense medication. Type 2 brittle asthma is background well-controlled asthma with sudden severe exacerbations.[101]
#### Exercise-induced
Main article: Exercise-induced bronchoconstriction
Exercise can trigger bronchoconstriction both in people with or without asthma.[109] It occurs in most people with asthma and up to 20% of people without asthma.[109] Exercise-induced bronchoconstriction is common in professional athletes. The highest rates are among cyclists (up to 45%), swimmers, and cross-country skiers.[110] While it may occur with any weather conditions, it is more common when it is dry and cold.[111] Inhaled beta2-agonists do not appear to improve athletic performance among those without asthma,[112] however, oral doses may improve endurance and strength.[113][114]
#### Occupational
Main article: Occupational asthma
Asthma as a result of (or worsened by) workplace exposures is a commonly reported occupational disease.[115] Many cases, however, are not reported or recognized as such.[116][117] It is estimated that 5–25% of asthma cases in adults are work-related. A few hundred different agents have been implicated, with the most common being: isocyanates, grain and wood dust, colophony, soldering flux, latex, animals, and aldehydes. The employment associated with the highest risk of problems include: those who spray paint, bakers and those who process food, nurses, chemical workers, those who work with animals, welders, hairdressers and timber workers.[115]
#### Aspirin-induced asthma
Main article: Aspirin-exacerbated respiratory disease
Aspirin-exacerbated respiratory disease (AERD), also known as aspirin-induced asthma, affects up to 9% of asthmatics.[118] AERD consists of asthma, nasal polyps, sinus disease, and respiratory reactions to aspirin and other NSAID medications (such as ibuprofen and naproxen).[119] People often also develop loss of smell and most experience respiratory reactions to alcohol.[120]
#### Alcohol-induced asthma
Main article: Alcohol-induced respiratory reactions
Alcohol may worsen asthmatic symptoms in up to a third of people.[121] This may be even more common in some ethnic groups such as the Japanese and those with aspirin-induced asthma.[121] Other studies have found improvement in asthmatic symptoms from alcohol.[121]
#### Non-atopic asthma
Non-atopic asthma, also known as intrinsic or non-allergic, makes up between 10 and 33% of cases. There is negative skin test to common inhalant allergens and normal serum concentrations of IgE. Often it starts later in life, and women are more commonly affected than men. Usual treatments may not work as well.[122]
### Differential diagnosis
Many other conditions can cause symptoms similar to those of asthma. In children, symptoms may be due to other upper airway diseases such as allergic rhinitis and sinusitis, as well as other causes of airway obstruction including foreign body aspiration, tracheal stenosis, laryngotracheomalacia, vascular rings, enlarged lymph nodes or neck masses.[123] Bronchiolitis and other viral infections may also produce wheezing.[124] In adults, COPD, congestive heart failure, airway masses, as well as drug-induced coughing due to ACE inhibitors may cause similar symptoms. In both populations vocal cord dysfunction may present similarly.[123]
Chronic obstructive pulmonary disease can coexist with asthma and can occur as a complication of chronic asthma. After the age of 65, most people with obstructive airway disease will have asthma and COPD. In this setting, COPD can be differentiated by increased airway neutrophils, abnormally increased wall thickness, and increased smooth muscle in the bronchi. However, this level of investigation is not performed due to COPD and asthma sharing similar principles of management: corticosteroids, long-acting beta-agonists, and smoking cessation.[125] It closely resembles asthma in symptoms, is correlated with more exposure to cigarette smoke, an older age, less symptom reversibility after bronchodilator administration, and decreased likelihood of family history of atopy.[126][127]
## Prevention
The evidence for the effectiveness of measures to prevent the development of asthma is weak.[128] The World Health Organization recommends decreasing risk factors such as tobacco smoke, air pollution, chemical irritants including perfume, and the number of lower respiratory infections.[129][130] Other efforts that show promise include: limiting smoke exposure in utero, breastfeeding, and increased exposure to daycare or large families, but none are well supported enough to be recommended for this indication.[128]
Early pet exposure may be useful.[131] Results from exposure to pets at other times are inconclusive[132] and it is only recommended that pets be removed from the home if a person has allergic symptoms to said pet.[133]
Dietary restrictions during pregnancy or when breast feeding have not been found to be effective at preventing asthma in children and are not recommended.[133] Reducing or eliminating compounds known to sensitive people from the work place may be effective.[115] It is not clear if annual influenza vaccinations affects the risk of exacerbations.[134] Immunization, however, is recommended by the World Health Organization.[135] Smoking bans are effective in decreasing exacerbations of asthma.[136]
## Management
While there is no cure for asthma, symptoms can typically be improved.[137] The most effective treatment for asthma is identifying triggers, such as cigarette smoke, pets, or aspirin, and eliminating exposure to them. If trigger avoidance is insufficient, the use of medication is recommended. Pharmaceutical drugs are selected based on, among other things, the severity of illness and the frequency of symptoms. Specific medications for asthma are broadly classified into fast-acting and long-acting categories.[138][139]
Bronchodilators are recommended for short-term relief of symptoms. In those with occasional attacks, no other medication is needed. If mild persistent disease is present (more than two attacks a week), low-dose inhaled corticosteroids or alternatively, a leukotriene antagonist or a mast cell stabilizer by mouth is recommended. For those who have daily attacks, a higher dose of inhaled corticosteroids is used. In a moderate or severe exacerbation, corticosteroids by mouth are added to these treatments.[7]
People with asthma have higher rates of anxiety, psychological stress, and depression.[140][141] This is associated with poorer asthma control.[140] Cognitive behavioral therapy may improve quality of life, asthma control, and anxiety levels in people with asthma.[140]
Improving people's knowledge about asthma and using a written action plan has been identified as an important component of managing asthma.[142] Providing educational sessions that include information specific to a person's culture is likely effective.[143] More research is necessary to determine if increasing preparedness and knowledge of asthma among school staff and families using home-based and school interventions results in long term improvements in safety for children with asthma.[144][145][146] School-based asthma self-management interventions, which attempt to improve knowledge of asthma, its triggers and the importance of regular practitioner review, may reduce hospital admissions and emergency department visits. These interventions may also reduce the number of days children experience asthma symptoms and may lead to small improvements in asthma-related quality of life.[147] More research is necessary to determine if shared-decision-making is helpful for managing adults with asthma[148] or if a personalized asthma action plan is effective and necessary.[149] Some people with asthma use pulse oximeters to monitor their own blood oxygen levels during an asthma attack. However, there is no evidence regarding the use in these instances.[150]
### Lifestyle modification
Avoidance of triggers is a key component of improving control and preventing attacks. The most common triggers include allergens, smoke (from tobacco or other sources), air pollution, non selective beta-blockers, and sulfite-containing foods.[151][152] Cigarette smoking and second-hand smoke (passive smoke) may reduce the effectiveness of medications such as corticosteroids.[153] Laws that limit smoking decrease the number of people hospitalized for asthma.[136] Dust mite control measures, including air filtration, chemicals to kill mites, vacuuming, mattress covers and others methods had no effect on asthma symptoms.[58] There is insufficient evidence to suggest that dehumidifiers are helpful for controlling asthma.[154]
Overall, exercise is beneficial in people with stable asthma.[155] Yoga could provide small improvements in quality of life and symptoms in people with asthma.[156] More research is necessary to determine how effective weight loss is on improving quality of life, the usage of health care services, and adverse effects for people of all ages with asthma.[157][158]
### Medications
Medications used to treat asthma are divided into two general classes: quick-relief medications used to treat acute symptoms; and long-term control medications used to prevent further exacerbation.[138] Antibiotics are generally not needed for sudden worsening of symptoms or for treating asthma at any time.[159][160]
#### Fast–acting
Salbutamol metered dose inhaler commonly used to treat asthma attacks.
* Short-acting beta2-adrenoceptor agonists (SABA), such as salbutamol (albuterol USAN) are the first line treatment for asthma symptoms.[7] They are recommended before exercise in those with exercise induced symptoms.[161]
* Anticholinergic medications, such as ipratropium, provide additional benefit when used in combination with SABA in those with moderate or severe symptoms and may prevent hospitalizations.[7][162][163] Anticholinergic bronchodilators can also be used if a person cannot tolerate a SABA.[98] If a child requires admission to hospital additional ipratropium does not appear to help over a SABA.[164] For children over 2 years old with acute asthma symptoms, inhaled anticholinergic medications taken alone is safe but is not as effective as inhaled SABA or SABA combined with inhaled anticholinergic medication.[165][162] Adults who receive combined inhaled medications that includes short-acting anticholinergics and SABA may be at risk for increased adverse effects such as experiencing a tremor, agitation, and heart beat palpitations compared to people who are treated with SABA by itself.[163]
* Older, less selective adrenergic agonists, such as inhaled epinephrine, have similar efficacy to SABAs.[166] They are however not recommended due to concerns regarding excessive cardiac stimulation.[167]
* A short course of corticosteroids after an acute asthma exacerbation may help prevent relapses and reduce hospitalizations.[168] For adults and children who are in the hospital due to acute asthma, systematic (IV) corticosteroids improve symptoms.[169][170]
#### Long–term control
Fluticasone propionate metered dose inhaler commonly used for long-term control.
* Corticosteroids are generally considered the most effective treatment available for long-term control.[138] Inhaled forms such as beclomethasone are usually used except in the case of severe persistent disease, in which oral corticosteroids may be needed.[138][171] It is usually recommended that inhaled formulations be used once or twice daily, depending on the severity of symptoms.[172]
* Long-acting beta-adrenoceptor agonists (LABA) such as salmeterol and formoterol can improve asthma control, at least in adults, when given in combination with inhaled corticosteroids.[173][174] In children this benefit is uncertain.[173][175][174] When used without steroids they increase the risk of severe side-effects,[176] and with corticosteroids they may slightly increase the risk.[177][178] Evidence suggests that for children who have persistent asthma, a treatment regime that includes LABA added to inhaled corticosteroids may improve lung function but does not reduce the amount of serious exacerbations.[179] Children who require LABA as part of their asthma treatment may need to go to the hospital more frequently.[179]
* Leukotriene receptor antagonists (anti-leukotriene agents such as montelukast and zafirlukast) may be used in addition to inhaled corticosteroids, typically also in conjunction with a LABA.[17][138][180][181][182] Evidence is insufficient to support use in acute exacerbations.[183][184] For adults or adolescents who have persistent asthma that is not controlled very well, the addition of anti-leukotriene agents along with daily inhaled corticosteriods improves lung function and reduces the risk of moderate and severe asthma exacerbations.[181] Anti-leukotriene agents may be effective alone for adolescents and adults, however there is no clear research suggesting which people with asthma would benefit from anti-leukotriene receptor alone.[185] In those under five years of age, anti-leukotriene agents were the preferred add-on therapy after inhaled corticosteroids by the British Thoracic Society in 2009.[186] A 2013 Cochrane systematic review concluded that anti-leukotriene agents appear to be of little benefit when added to inhaled steroids for treating children.[187] A similar class of drugs, 5-LOX inhibitors, may be used as an alternative in the chronic treatment of mild to moderate asthma among older children and adults.[17][188] As of 2013 there is one medication in this family known as zileuton.[17]
* Intravenous administration of the drug aminophylline does not provide an improvement in bronchodilation when compared to standard inhaled beta-2 agonist treatment.[189] Aminophylline treatment is associated with more adverse effects compared to inhaled beta-2 agonist treatment.[189]
* Mast cell stabilizers (such as cromolyn sodium) are another non-preferred alternative to corticosteroids.[138]
* For children with asthma which is well-controlled on combination therapy of inhaled corticosteroids (ICS) and long-acting beta2-agonists (LABA), the benefits and harms of stopping LABA and stepping down to ICS-only therapy are uncertain.[190] In adults who have stable asthma while they are taking a combination of LABA and inhaled corticosteroids (ICS), stopping LABA may increase the risk of asthma exacerbations that require treatment with corticosteroids by mouth.[191] Stopping LABA probably makes little or no important difference to asthma control or asthma-related quality of life.[191] Whether or not stopping LABA increases the risk of serious adverse events or exacerbations requiring an emergency department visit or hospitalisation is uncertain.[191]
* Anticholinergic medications such as ipratropium bromide have not been shown to be beneficial for treating chronic asthma in children over 2 years old,[192] but is not suggested for routine treatment of chronic asthma in adults.[193]
* There is no strong evidence to recommend chloroquine medication as a replacement for taking corticosteroids by mouth (for those who are not able to tolerate inhaled steroids).[194] Methotrexate is not suggested as a replacement for taking corticosteriods by mouth ("steroid sparing") due to the adverse effects associated with taking methotrexate and the minimal relief provided for asthma symptoms.[195]
#### Delivery methods
Medications are typically provided as metered-dose inhalers (MDIs) in combination with an asthma spacer or as a dry powder inhaler. The spacer is a plastic cylinder that mixes the medication with air, making it easier to receive a full dose of the drug. A nebulizer may also be used. Nebulizers and spacers are equally effective in those with mild to moderate symptoms. However, insufficient evidence is available to determine whether a difference exists in those with severe disease.[196] For delivering short-acting beta-agonists in acute asthma in children, spacers may have advantages compared to nebulisers, but children with life-threatening asthma have not been studied.[197] There is no strong evidence for the use of intravenous LABA for adults or children who have acute asthma.[198] There is insufficient evidence to directly compare the effectiveness of a metered-dose inhaler attached to a homemade spacer compared to commercially available spacer for treating children with asthma.[199]
#### Adverse effects
Long-term use of inhaled corticosteroids at conventional doses carries a minor risk of adverse effects.[200] Risks include thrush, the development of cataracts, and a slightly slowed rate of growth.[200][201][202] Rinsing the mouth after the use of inhaled steroids can decrease the risk of thrush.[203] Higher doses of inhaled steroids may result in lower bone mineral density.[204]
### Others
Inflammation in the lungs can be estimated by the level of exhaled nitric oxide.[205][206] The use of exhaled nitric oxide levels (FeNO) to guide asthma medication dosing may have small benefits for preventing asthma attacks but the potential benefits are not strong enough for this approach to be universally recommended as a method to guide asthma therapy in adults or children.[205][206]
When asthma is unresponsive to usual medications, other options are available for both emergency management and prevention of flareups. Additional options include:
* Oxygen to alleviate hypoxia if saturations fall below 92%.[207]
* Corticosteroid by mouth are recommended with five days of prednisone being the same 2 days of dexamethasone.[208] One review recommended a seven-day course of steroids.[209]
* Magnesium sulfate intravenous treatment increases bronchodilation when used in addition to other treatment in moderate severe acute asthma attacks.[18][210][211] In adults intravenous treatment results in a reduction of hospital admissions.[212] Low levels of evidence suggest that inhaled (nebulised) magnesium sulfate may have a small benefit for treating acute asthma in adults.[213] Overall, high quality evidence do not indicate a large benefit for combining magnesium sulfate with standard inhaled treatments for adults with asthma.[213]
* Heliox, a mixture of helium and oxygen, may also be considered in severe unresponsive cases.[18]
* Intravenous salbutamol is not supported by available evidence and is thus used only in extreme cases.[207]
* Methylxanthines (such as theophylline) were once widely used, but do not add significantly to the effects of inhaled beta-agonists.[207] Their use in acute exacerbations is controversial.[214]
* The dissociative anesthetic ketamine is theoretically useful if intubation and mechanical ventilation is needed in people who are approaching respiratory arrest; however, there is no evidence from clinical trials to support this.[215]
* For those with severe persistent asthma not controlled by inhaled corticosteroids and LABAs, bronchial thermoplasty may be an option.[216] It involves the delivery of controlled thermal energy to the airway wall during a series of bronchoscopies.[216][217] While it may increase exacerbation frequency in the first few months it appears to decrease the subsequent rate. Effects beyond one year are unknown.[218]
* Monoclonal antibody injections such as mepolizumab,[219] dupilumab,[220] or omalizumab may be useful in those with poorly controlled atopic asthma.[221] However, as of 2019 these medications are expensive and their use is therefore reserved for those with severe symptoms to achieve cost-effectiveness.[222] Monoclonal antibodies targeting interleukin-5 (IL-5) or its receptor (IL-5R), including mepolizumab, reslizumab or benralizumab, in addition to standard care in severe asthma is effective in reducing the rate of asthma exacerbations. There is limited evidence for improved health-related quality of life and lung function.[223]
* Evidence suggests that sublingual immunotherapy in those with both allergic rhinitis and asthma improve outcomes.[224]
* It is unclear if non-invasive positive pressure ventilation in children is of use as it has not been sufficiently studied.[225]
### Alternative medicine
Many people with asthma, like those with other chronic disorders, use alternative treatments; surveys show that roughly 50% use some form of unconventional therapy.[226][227] There is little data to support the effectiveness of most of these therapies.
Evidence is insufficient to support the usage of vitamin C or vitamin E for controlling asthma.[228][229] There is tentative support for use of vitamin C in exercise induced bronchospasm.[230] Fish oil dietary supplements (marine n-3 fatty acids)[231] and reducing dietary sodium[232] do not appear to help improve asthma control. In people with mild to moderate asthma, treatment with vitamin D supplementation may reduce the risk of asthma exacerbations, however, it is not clear if this is only helpful for people who have low vitamin D levels to begin with (low baseline vitamin D).[233] There is no strong evidence to suggest that vitamin D supplements improve day-to-day asthma symptoms or a person's lung function.[233] There is no strong evidence to suggest that adults with asthma should avoid foods that contain monosodium glutamate (MSG).[234] There have not been enough high-quality studies performed to determine if children with asthma should avoid eating food that contains MSG.[234]
Acupuncture is not recommended for the treatment as there is insufficient evidence to support its use.[235][236] Air ionisers show no evidence that they improve asthma symptoms or benefit lung function; this applied equally to positive and negative ion generators.[237] Manual therapies, including osteopathic, chiropractic, physiotherapeutic and respiratory therapeutic maneuvers, have insufficient evidence to support their use in treating asthma.[238] The Buteyko breathing technique for controlling hyperventilation may result in a reduction in medication use; however, the technique does not have any effect on lung function.[139] Thus an expert panel felt that evidence was insufficient to support its use.[235] There is no clear evidence that breathing exercises are effective for treating children with asthma.[239]
## Prognosis
The prognosis for asthma is generally good, especially for children with mild disease.[240] Mortality has decreased over the last few decades due to better recognition and improvement in care.[241] In 2010 the death rate was 170 per million for males and 90 per million for females.[242] Rates vary between countries by 100 fold.[242]
Globally it causes moderate or severe disability in 19.4 million people as of 2004 (16 million of which are in low and middle income countries).[243] Of asthma diagnosed during childhood, half of cases will no longer carry the diagnosis after a decade.[71] Airway remodeling is observed, but it is unknown whether these represent harmful or beneficial changes.[244] Early treatment with corticosteroids seems to prevent or ameliorates a decline in lung function.[245] Asthma in children also has negative effects on quality of life of their parents.[246]
* Asthma deaths per million persons in 2012
0–10
11–13
14–17
18–23
24–32
33–43
44–50
51–66
67–95
96–251
* Disability-adjusted life year for asthma per 100,000 inhabitants in 2004.[247]
no data
0-100
100–150
150–200
200–250
250–300
300–350
350–400
400–450
450–500
500–550
550–600
>600
## Epidemiology
Main article: Epidemiology of asthma
Rates of asthma in 2017[248]
As of 2011, 235–330 million people worldwide are affected by asthma,[249][250][251] and approximately 250,000–345,000 people die per year from the disease.[23][252] Rates vary between countries with prevalences between 1 and 18%.[23] It is more common in developed than developing countries.[23] One thus sees lower rates in Asia, Eastern Europe and Africa.[22] Within developed countries it is more common in those who are economically disadvantaged while in contrast in developing countries it is more common in the affluent.[23] The reason for these differences is not well known.[23] Low and middle income countries make up more than 80% of the mortality.[253]
While asthma is twice as common in boys as girls,[23] severe asthma occurs at equal rates.[254] In contrast adult women have a higher rate of asthma than men[23] and it is more common in the young than the old.[22] In children, asthma was the most common reason for admission to the hospital following an emergency department visit in the US in 2011.[255]
Global rates of asthma have increased significantly between the 1960s and 2008[20][256] with it being recognized as a major public health problem since the 1970s.[22] Rates of asthma have plateaued in the developed world since the mid-1990s with recent increases primarily in the developing world.[257] Asthma affects approximately 7% of the population of the United States[176] and 5% of people in the United Kingdom.[258] Canada, Australia and New Zealand have rates of about 14–15%.[259]
The average death rate from 2011 to 2015 from asthma in the UK was about 50% higher than the average for the European Union and had increased by about 5% in that time.[260] Children are more likely see a physician due to asthma symptoms after school starts in September.[261]
## Economics
From 2000 to 2010, the average cost per asthma-related hospital stay in the United States for children remained relatively stable at about $3,600, whereas the average cost per asthma-related hospital stay for adults increased from $5,200 to $6,600.[262] In 2010, Medicaid was the most frequent primary payer among children and adults aged 18–44 years in the United States; private insurance was the second most frequent payer.[262] Among both children and adults in the lowest income communities in the United States there is a higher rate of hospital stays for asthma in 2010 than those in the highest income communities.[262]
## History
Ebers Papyrus detailing treatment of asthma
1907 advertisement for Grimault's Indian Cigarettes, promoted as a means of relieving asthma. They contained belladonna and cannabis.
Asthma was recognized in ancient Egypt and was treated by drinking an incense mixture known as kyphi.[21] It was officially named as a specific respiratory problem by Hippocrates circa 450 BC, with the Greek word for "panting" forming the basis of our modern name.[22] In 200 BC it was believed to be at least partly related to the emotions.[30] In the 12th century the Jewish physician-philosopher Maimonides wrote a treatise on asthma in Arabic, based partly on Arabic sources, in which he discussed the symptoms, proposed various dietary and other means of treatment, and emphasized the importance of climate and clean air.[263]
In 1873, one of the first papers in modern medicine on the subject tried to explain the pathophysiology of the disease while one in 1872, concluded that asthma can be cured by rubbing the chest with chloroform liniment.[264][265] Medical treatment in 1880 included the use of intravenous doses of a drug called pilocarpine.[266] In 1886, F. H. Bosworth theorized a connection between asthma and hay fever.[267] Epinephrine was first referred to in the treatment of asthma in 1905.[268] Oral corticosteroids began to be used for this condition in the 1950s while inhaled corticosteroids and selective short acting beta agonist came into wide use in the 1960s.[269][270]
A notable and well-documented case in the 19th century was that of young Theodore Roosevelt (1858–1919). At that time there was no effective treatment. Roosevelt's youth was in large part shaped by his poor health partly related to his asthma. He experienced recurring nighttime asthma attacks that caused the experience of being smothered to death, terrifying the boy and his parents.[271]
During the 1930s to 1950s, asthma was known as one of the "holy seven" psychosomatic illnesses. Its cause was considered to be psychological, with treatment often based on psychoanalysis and other talking cures.[272] As these psychoanalysts interpreted the asthmatic wheeze as the suppressed cry of the child for its mother, they considered the treatment of depression to be especially important for individuals with asthma.[272]
In January 2021, an appeal court in France overturned a deportation order against a 40-year-old Bangladeshi man, who was a patient of asthma. His lawyers had argued that the dangerous levels of pollution in Bangladesh could possibly lead to worsening of his health condition, or even premature death.[273]
## References
1. ^ GINA 2011, p. 18
2. ^ a b British Guideline 2009, p. 4
3. ^ a b c d e f g h i j "Asthma Fact sheet №307". WHO. November 2013. Archived from the original on June 29, 2011. Retrieved 3 March 2016.
4. ^ a b c d Martinez FD (January 2007). "Genes, environments, development and asthma: a reappraisal". The European Respiratory Journal. 29 (1): 179–84. doi:10.1183/09031936.00087906. PMID 17197483.
5. ^ a b c Lemanske RF, Busse WW (February 2010). "Asthma: clinical expression and molecular mechanisms". The Journal of Allergy and Clinical Immunology. 125 (2 Suppl 2): S95-102. doi:10.1016/j.jaci.2009.10.047. PMC 2853245. PMID 20176271.
6. ^ a b NHLBI Guideline 2007, pp. 169–72
7. ^ a b c d e NHLBI Guideline 2007, p. 214
8. ^ a b GBD 2015 Disease Injury Incidence Prevalence Collaborators (October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
9. ^ a b GBD 2015 Mortality Causes of Death Collaborators (October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/S0140-6736(16)31012-1. PMC 5388903. PMID 27733281.
10. ^ NHLBI Guideline 2007, pp. 11–12
11. ^ GINA 2011, p. 20,51
12. ^ a b c Yawn BP (September 2008). "Factors accounting for asthma variability: achieving optimal symptom control for individual patients" (PDF). Primary Care Respiratory Journal. 17 (3): 138–47. doi:10.3132/pcrj.2008.00004. PMC 6619889. PMID 18264646. Archived (PDF) from the original on 2009-03-26.
13. ^ a b Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon, eds. (2010). Robbins and Cotran pathologic basis of disease (8th ed.). Saunders. p. 688. ISBN 978-1-4160-3121-5. OCLC 643462931.
14. ^ Stedman's Medical Dictionary (28 ed.). Lippincott Williams & Wilkins. 2005. ISBN 978-0-7817-3390-8.
15. ^ GINA 2011, p. 71
16. ^ GINA 2011, p. 33
17. ^ a b c d Scott JP, Peters-Golden M (September 2013). "Antileukotriene agents for the treatment of lung disease". American Journal of Respiratory and Critical Care Medicine. 188 (5): 538–44. doi:10.1164/rccm.201301-0023PP. PMID 23822826.
18. ^ a b c NHLBI Guideline 2007, pp. 373–75
19. ^ Global Burden of Disease Study 2013 Collaborators (August 2015). "Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". Lancet. 386 (9995): 743–800. doi:10.1016/s0140-6736(15)60692-4. PMC 4561509. PMID 26063472.
20. ^ a b Anandan C, Nurmatov U, van Schayck OC, Sheikh A (February 2010). "Is the prevalence of asthma declining? Systematic review of epidemiological studies". Allergy. 65 (2): 152–67. doi:10.1111/j.1398-9995.2009.02244.x. PMID 19912154. S2CID 19525219.
21. ^ a b Manniche L. (1999). Sacred luxuries: fragrance, aromatherapy, and cosmetics in ancient Egypt. Cornell University Press. pp. 49. ISBN 978-0-8014-3720-5.
22. ^ a b c d e f g h i j k l m n Murray, John F. (2010). "Ch. 38 Asthma". In Mason, Robert J.; Murray, John F.; Broaddus, V. Courtney; Nadel, Jay A.; Martin, Thomas R.; King, Jr., Talmadge E.; Schraufnagel, Dean E. (eds.). Murray and Nadel's textbook of respiratory medicine (5th ed.). Elsevier. ISBN 978-1-4160-4710-0.
23. ^ a b c d e f g h i j GINA 2011, pp. 2–5
24. ^ Jindal SK, ed. (2011). Textbook of pulmonary and critical care medicine. New Delhi: Jaypee Brothers Medical Publishers. p. 242. ISBN 978-93-5025-073-0. Archived from the original on 2016-04-24.
25. ^ George, Ronald B. (2005). Chest medicine : essentials of pulmonary and critical care medicine (5th ed.). Philadelphia: Lippincott Williams & Wilkins. p. 62. ISBN 978-0-7817-5273-2. Archived from the original on 2016-05-05.
26. ^ British Guideline 2009, p. 14
27. ^ GINA 2011, pp. 8–9
28. ^ Boulet LP (April 2009). "Influence of comorbid conditions on asthma". The European Respiratory Journal. 33 (4): 897–906. doi:10.1183/09031936.00121308. PMID 19336592.
29. ^ Boulet LP, Boulay MÈ (June 2011). "Asthma-related comorbidities". Expert Review of Respiratory Medicine. 5 (3): 377–93. doi:10.1586/ers.11.34. PMID 21702660.
30. ^ a b editors, Andrew Harver, Harry Kotses (2010). Asthma, health and society a public health perspective. New York: Springer. p. 315. ISBN 978-0-387-78285-0. Archived from the original on 2016-05-12.CS1 maint: extra text: authors list (link)
31. ^ Thomas M, Bruton A, Moffat M, Cleland J (September 2011). "Asthma and psychological dysfunction". Primary Care Respiratory Journal. 20 (3): 250–6. doi:10.4104/pcrj.2011.00058. PMC 6549858. PMID 21674122.
32. ^ Thomsen HS, Webb JA, eds. (2014). Contrast media : safety issues and ESUR guidelines (Third ed.). Dordrecht: Springer. p. 54. ISBN 978-3-642-36724-3.
33. ^ Agostini, BA; Collares, KF; Costa, FDS; Correa, MB; Demarco, FF (August 2019). "The role of asthma in caries occurrence – meta-analysis and meta-regression". The Journal of Asthma. 56 (8): 841–852. doi:10.1080/02770903.2018.1493602. PMID 29972654. S2CID 49694304.
34. ^ a b Thomas, MS; Parolia, A; Kundabala, M; Vikram, M (June 2010). "Asthma and oral health: a review". Australian Dental Journal. 55 (2): 128–33. doi:10.1111/j.1834-7819.2010.01226.x. PMID 20604752.
35. ^ Miller RL, Ho SM (March 2008). "Environmental epigenetics and asthma: current concepts and call for studies". American Journal of Respiratory and Critical Care Medicine. 177 (6): 567–73. doi:10.1164/rccm.200710-1511PP. PMC 2267336. PMID 18187692.
36. ^ Choudhry S, Seibold MA, Borrell LN, Tang H, Serebrisky D, Chapela R, et al. (July 2007). "Dissecting complex diseases in complex populations: asthma in latino americans". Proceedings of the American Thoracic Society. 4 (3): 226–33. doi:10.1513/pats.200701-029AW. PMC 2647623. PMID 17607004.
37. ^ Dietert RR (September 2011). "Maternal and childhood asthma: risk factors, interactions, and ramifications". Reproductive Toxicology. 32 (2): 198–204. doi:10.1016/j.reprotox.2011.04.007. PMID 21575714.
38. ^ Tan DJ, Walters EH, Perret JL, Lodge CJ, Lowe AJ, Matheson MC, Dharmage SC (February 2015). "Age-of-asthma onset as a determinant of different asthma phenotypes in adults: a systematic review and meta-analysis of the literature". Expert Review of Respiratory Medicine. 9 (1): 109–23. doi:10.1586/17476348.2015.1000311. PMID 25584929. S2CID 23213216.
39. ^ Kelly FJ, Fussell JC (August 2011). "Air pollution and airway disease". Clinical and Experimental Allergy. 41 (8): 1059–71. doi:10.1111/j.1365-2222.2011.03776.x. PMID 21623970. S2CID 37717160.
40. ^ GINA 2011, p. 6
41. ^ GINA 2011, p. 61
42. ^ a b Gold DR, Wright R (2005). "Population disparities in asthma". Annual Review of Public Health. 26: 89–113. doi:10.1146/annurev.publhealth.26.021304.144528. PMID 15760282.
43. ^ American Lung Association (June 2001). "Urban air pollution and health inequities: a workshop report". Environmental Health Perspectives. 109 Suppl 3: 357–74. doi:10.1289/ehp.01109s3357. PMC 1240553. PMID 11427385.
44. ^ Brooks, Nancy; Sethi, Rajiv (February 1997). "The Distribution of Pollution: Community Characteristics and Exposure to Air Toxics". Journal of Environmental Economics and Management. 32 (2): 233–50. doi:10.1006/jeem.1996.0967.
45. ^ McGwin G, Lienert J, Kennedy JI (March 2010). "Formaldehyde exposure and asthma in children: a systematic review". Environmental Health Perspectives. 118 (3): 313–7. doi:10.1289/ehp.0901143. PMC 2854756. PMID 20064771.
46. ^ Jaakkola JJ, Knight TL (July 2008). "The role of exposure to phthalates from polyvinyl chloride products in the development of asthma and allergies: a systematic review and meta-analysis". Environmental Health Perspectives. 116 (7): 845–53. doi:10.1289/ehp.10846. PMC 2453150. PMID 18629304.
47. ^ Bornehag CG, Nanberg E (April 2010). "Phthalate exposure and asthma in children". International Journal of Andrology. 33 (2): 333–45. doi:10.1111/j.1365-2605.2009.01023.x. PMID 20059582.
48. ^ Mamane A, Baldi I, Tessier JF, Raherison C, Bouvier G (June 2015). "Occupational exposure to pesticides and respiratory health". European Respiratory Review. 24 (136): 306–19. doi:10.1183/16000617.00006014. PMID 26028642.
49. ^ Mamane A, Raherison C, Tessier JF, Baldi I, Bouvier G (September 2015). "Environmental exposure to pesticides and respiratory health". European Respiratory Review. 24 (137): 462–73. doi:10.1183/16000617.00006114. PMID 26324808.
50. ^ Heintze K, Petersen KU (June 2013). "The case of drug causation of childhood asthma: antibiotics and paracetamol". European Journal of Clinical Pharmacology. 69 (6): 1197–209. doi:10.1007/s00228-012-1463-7. PMC 3651816. PMID 23292157.
51. ^ Henderson AJ, Shaheen SO (March 2013). "Acetaminophen and asthma". Paediatric Respiratory Reviews. 14 (1): 9–15, quiz 16. doi:10.1016/j.prrv.2012.04.004. PMID 23347656.
52. ^ Cheelo M, Lodge CJ, Dharmage SC, Simpson JA, Matheson M, Heinrich J, Lowe AJ (January 2015). "Paracetamol exposure in pregnancy and early childhood and development of childhood asthma: a systematic review and meta-analysis". Archives of Disease in Childhood. 100 (1): 81–9. doi:10.1136/archdischild-2012-303043. PMID 25429049. S2CID 13520462.
53. ^ Eyers S, Weatherall M, Jefferies S, Beasley R (April 2011). "Paracetamol in pregnancy and the risk of wheezing in offspring: a systematic review and meta-analysis". Clinical and Experimental Allergy. 41 (4): 482–9. doi:10.1111/j.1365-2222.2010.03691.x. PMID 21338428. S2CID 205275267.
54. ^ van de Loo KF, van Gelder MM, Roukema J, Roeleveld N, Merkus PJ, Verhaak CM (January 2016). "Prenatal maternal psychological stress and childhood asthma and wheezing: a meta-analysis". The European Respiratory Journal. 47 (1): 133–46. doi:10.1183/13993003.00299-2015. PMID 26541526.
55. ^ Ahluwalia SK, Matsui EC (April 2011). "The indoor environment and its effects on childhood asthma". Current Opinion in Allergy and Clinical Immunology. 11 (2): 137–43. doi:10.1097/ACI.0b013e3283445921. PMID 21301330. S2CID 35075329.
56. ^ Arshad SH (January 2010). "Does exposure to indoor allergens contribute to the development of asthma and allergy?". Current Allergy and Asthma Reports. 10 (1): 49–55. doi:10.1007/s11882-009-0082-6. PMID 20425514. S2CID 30418306.
57. ^ Custovic A, Simpson A (2012). "The role of inhalant allergens in allergic airways disease". Journal of Investigational Allergology & Clinical Immunology. 22 (6): 393–401, qiuz follow 401. PMID 23101182.
58. ^ a b Gøtzsche PC, Johansen HK (April 2008). Gøtzsche PC (ed.). "House dust mite control measures for asthma". The Cochrane Database of Systematic Reviews (2): CD001187. doi:10.1002/14651858.CD001187.pub3. PMID 18425868.
59. ^ Calderón MA, Linneberg A, Kleine-Tebbe J, De Blay F, Hernandez Fernandez de Rojas D, Virchow JC, Demoly P (July 2015). "Respiratory allergy caused by house dust mites: What do we really know?". The Journal of Allergy and Clinical Immunology. 136 (1): 38–48. doi:10.1016/j.jaci.2014.10.012. PMID 25457152.
60. ^ Sauni, Riitta; Verbeek, Jos H.; Uitti, Jukka; Jauhiainen, Merja; Kreiss, Kathleen; Sigsgaard, Torben (2015-02-25). "Remediating buildings damaged by dampness and mould for preventing or reducing respiratory tract symptoms, infections and asthma". The Cochrane Database of Systematic Reviews (2): CD007897. doi:10.1002/14651858.CD007897.pub3. ISSN 1469-493X. PMC 6769180. PMID 25715323.
61. ^ a b NHLBI Guideline 2007, p. 11
62. ^ Ramsey CD, Celedón JC (January 2005). "The hygiene hypothesis and asthma". Current Opinion in Pulmonary Medicine. 11 (1): 14–20. doi:10.1097/01.mcp.0000145791.13714.ae. PMID 15591883. S2CID 44556390.
63. ^ Bufford JD, Gern JE (May 2005). "The hygiene hypothesis revisited". Immunology and Allergy Clinics of North America. 25 (2): 247–62, v–vi. doi:10.1016/j.iac.2005.03.005. PMID 15878454.
64. ^ a b Brooks C, Pearce N, Douwes J (February 2013). "The hygiene hypothesis in allergy and asthma: an update". Current Opinion in Allergy and Clinical Immunology. 13 (1): 70–7. doi:10.1097/ACI.0b013e32835ad0d2. PMID 23103806. S2CID 23664343.
65. ^ Rao D, Phipatanakul W (October 2011). "Impact of environmental controls on childhood asthma". Current Allergy and Asthma Reports. 11 (5): 414–20. doi:10.1007/s11882-011-0206-7. PMC 3166452. PMID 21710109.
66. ^ Murk W, Risnes KR, Bracken MB (June 2011). "Prenatal or early-life exposure to antibiotics and risk of childhood asthma: a systematic review". Pediatrics. 127 (6): 1125–38. doi:10.1542/peds.2010-2092. PMID 21606151. S2CID 26098640.
67. ^ British Guideline 2009, p. 72
68. ^ Neu J, Rushing J (June 2011). "Cesarean versus vaginal delivery: long-term infant outcomes and the hygiene hypothesis". Clinics in Perinatology. 38 (2): 321–31. doi:10.1016/j.clp.2011.03.008. PMC 3110651. PMID 21645799.
69. ^ Von Hertzen LC, Haahtela T (February 2004). "Asthma and atopy – the price of affluence?". Allergy. 59 (2): 124–37. doi:10.1046/j.1398-9995.2003.00433.x. PMID 14763924. S2CID 34049674.
70. ^ a b Martinez FD (July 2007). "CD14, endotoxin, and asthma risk: actions and interactions". Proceedings of the American Thoracic Society. 4 (3): 221–5. doi:10.1513/pats.200702-035AW. PMC 2647622. PMID 17607003.
71. ^ a b c Elward, Graham Douglas, Kurtis S. (2010). Asthma. London: Manson Pub. pp. 27–29. ISBN 978-1-84076-513-7. Archived from the original on 2016-05-17.
72. ^ a b c Ober C, Hoffjan S (March 2006). "Asthma genetics 2006: the long and winding road to gene discovery". Genes and Immunity. 7 (2): 95–100. doi:10.1038/sj.gene.6364284. PMID 16395390.
73. ^ Halapi E, Bjornsdottir US (January 2009). "Overview on the current status of asthma genetics". The Clinical Respiratory Journal. 3 (1): 2–7. doi:10.1111/j.1752-699X.2008.00119.x. PMID 20298365. S2CID 36471997.
74. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
75. ^ GINA 2011, p. 4
76. ^ Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, et al. (January 2013). "2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides". Arthritis and Rheumatism. 65 (1): 1–11. doi:10.1002/art.37715. PMID 23045170.
77. ^ Beuther DA (January 2010). "Recent insight into obesity and asthma". Current Opinion in Pulmonary Medicine. 16 (1): 64–70. doi:10.1097/MCP.0b013e3283338fa7. PMID 19844182. S2CID 34157182.
78. ^ Holguin F, Fitzpatrick A (March 2010). "Obesity, asthma, and oxidative stress". Journal of Applied Physiology. 108 (3): 754–9. doi:10.1152/japplphysiol.00702.2009. PMID 19926826.
79. ^ Wood LG, Gibson PG (July 2009). "Dietary factors lead to innate immune activation in asthma". Pharmacology & Therapeutics. 123 (1): 37–53. doi:10.1016/j.pharmthera.2009.03.015. PMID 19375453.
80. ^ O'Rourke ST (October 2007). "Antianginal actions of beta-adrenoceptor antagonists". American Journal of Pharmaceutical Education. 71 (5): 95. doi:10.5688/aj710595. PMC 2064893. PMID 17998992.
81. ^ Salpeter S, Ormiston T, Salpeter E (2002). "Cardioselective beta-blockers for reversible airway disease". The Cochrane Database of Systematic Reviews (4): CD002992. doi:10.1002/14651858.CD002992. PMID 12519582.
82. ^ Morales DR, Jackson C, Lipworth BJ, Donnan PT, Guthrie B (April 2014). "Adverse respiratory effect of acute β-blocker exposure in asthma: a systematic review and meta-analysis of randomized controlled trials". Chest. 145 (4): 779–786. doi:10.1378/chest.13-1235. PMID 24202435.
83. ^ Covar RA, Macomber BA, Szefler SJ (February 2005). "Medications as asthma triggers". Immunology and Allergy Clinics of North America. 25 (1): 169–90. doi:10.1016/j.iac.2004.09.009. PMID 15579370.
84. ^ Lai T, Wu M, Liu J, Luo M, He L, Wang X, et al. (February 2018). "Acid-Suppressive Drug Use During Pregnancy and the Risk of Childhood Asthma: A Meta-analysis". Pediatrics. 141 (2): e20170889. doi:10.1542/peds.2017-0889. PMID 29326337.
85. ^ a b c d Baxi SN, Phipatanakul W (April 2010). "The role of allergen exposure and avoidance in asthma". Adolescent Medicine. 21 (1): 57–71, viii–ix. PMC 2975603. PMID 20568555.
86. ^ Sharpe RA, Bearman N, Thornton CR, Husk K, Osborne NJ (January 2015). "Indoor fungal diversity and asthma: a meta-analysis and systematic review of risk factors". The Journal of Allergy and Clinical Immunology. 135 (1): 110–22. doi:10.1016/j.jaci.2014.07.002. PMID 25159468.
87. ^ Chen E, Miller GE (November 2007). "Stress and inflammation in exacerbations of asthma". Brain, Behavior, and Immunity. 21 (8): 993–9. doi:10.1016/j.bbi.2007.03.009. PMC 2077080. PMID 17493786.
88. ^ Pike KC, Akhbari M, Kneale D, Harris KM (March 2018). Cochrane Airways Group (ed.). "Interventions for autumn exacerbations of asthma in children". The Cochrane Database of Systematic Reviews. 3: CD012393. doi:10.1002/14651858.CD012393.pub2. PMC 6494188. PMID 29518252.
89. ^ a b NHLBI Guideline 2007, p. 42
90. ^ GINA 2011, p. 20
91. ^ American Academy of Allergy, Asthma, and Immunology. "Five things physicians and patients should question" (PDF). Choosing Wisely. ABIM Foundation. Archived from the original (PDF) on November 3, 2012. Retrieved August 14, 2012.
92. ^ Expert Panel Report 3: Guidelines for the Diagnosis and Management of Asthma. National Heart, Lung, and Blood Institute (US). 2007. 07-4051 – via NCBI.
93. ^ Welsh EJ, Bara A, Barley E, Cates CJ (January 2010). Welsh EJ (ed.). "Caffeine for asthma" (PDF). The Cochrane Database of Systematic Reviews (1): CD001112. doi:10.1002/14651858.CD001112.pub2. PMC 7053252. PMID 20091514.
94. ^ NHLBI Guideline 2007, p. 58
95. ^ Pinnock H, Shah R (April 2007). "Asthma". BMJ. 334 (7598): 847–50. doi:10.1136/bmj.39140.634896.BE. PMC 1853223. PMID 17446617.
96. ^ NHLBI Guideline 2007, p. 59
97. ^ a b Moore WC, Pascual RM (June 2010). "Update in asthma 2009". American Journal of Respiratory and Critical Care Medicine. 181 (11): 1181–7. doi:10.1164/rccm.201003-0321UP. PMC 3269238. PMID 20516492.
98. ^ a b Self, Timothy; Chrisman, Cary; Finch, Christopher (2009). "22. Asthma". In Mary Anne Koda-Kimble, Brian K. Alldredge; et al. (eds.). Applied therapeutics: the clinical use of drugs (9th ed.). Philadelphia: Lippincott Williams & Wilkins. OCLC 230848069.
99. ^ Delacourt C (June 2004). "[Bronchial changes in untreated asthma]" [Bronchial changes in untreated asthma]. Archives de Pédiatrie. 11 Suppl 2 (Suppl. 2): 71s–73s. doi:10.1016/S0929-693X(04)90003-6. PMID 15301800.
100. ^ Schiffman, George (18 December 2009). "Chronic obstructive pulmonary disease". MedicineNet. Archived from the original on 28 August 2010. Retrieved 2 September 2010.
101. ^ a b c d British Guideline 2009, p. 54
102. ^ Current Review of Asthma. London: Current Medicine Group. 2003. p. 42. ISBN 978-1-4613-1095-2. Archived from the original on 2017-09-08.
103. ^ Barnes, P. J. (2008). "Asthma". In Fauci, Anthony S.; Braunwald, E.; Kasper, D. L. (eds.). Harrison's Principles of Internal Medicine (17th ed.). New York: McGraw-Hill. pp. 1596–607. ISBN 978-0-07-146633-2.
104. ^ McMahon, Maureen (2011). Pediatrics a competency-based companion. Philadelphia, PA: Saunders/Elsevier. ISBN 978-1-4160-5350-7.
105. ^ Maitre B, Similowski T, Derenne JP (September 1995). "Physical examination of the adult patient with respiratory diseases: inspection and palpation". The European Respiratory Journal. 8 (9): 1584–93. PMID 8575588. Archived from the original on 2015-04-29.
106. ^ Werner HA (June 2001). "Status asthmaticus in children: a review". Chest. 119 (6): 1913–29. doi:10.1378/chest.119.6.1913. PMID 11399724.
107. ^ a b Shiber JR, Santana J (May 2006). "Dyspnea". The Medical Clinics of North America. 90 (3): 453–79. doi:10.1016/j.mcna.2005.11.006. PMID 16473100.
108. ^ a b Shah R, Saltoun CA (May–Jun 2012). "Chapter 14: Acute severe asthma (status asthmaticus)". Allergy and Asthma Proceedings. 33 Suppl 1 (3): 47–50. doi:10.2500/aap.2012.33.3547. PMID 22794687.
109. ^ a b Khan DA (Jan–Feb 2012). "Exercise-induced bronchoconstriction: burden and prevalence". Allergy and Asthma Proceedings. 33 (1): 1–6. doi:10.2500/aap.2012.33.3507. PMID 22370526.
110. ^ Wuestenfeld JC, Wolfarth B (January 2013). "Special considerations for adolescent athletic and asthmatic patients". Open Access Journal of Sports Medicine. 4: 1–7. doi:10.2147/OAJSM.S23438. PMC 3871903. PMID 24379703.
111. ^ GINA 2011, p. 17
112. ^ Carlsen KH, Anderson SD, Bjermer L, Bonini S, Brusasco V, Canonica W, et al. (May 2008). European Respiratory, Society; European Academy of Allergy and Clinical, Immunology; GA(2)LEN. "Treatment of exercise-induced asthma, respiratory and allergic disorders in sports and the relationship to doping: Part II of the report from the Joint Task Force of European Respiratory Society (ERS) and European Academy of Allergy and Clinical Immunology (EAACI) in cooperation with GA(2)LEN". Allergy. 63 (5): 492–505. doi:10.1111/j.1398-9995.2008.01663.x. PMID 18394123.
113. ^ Kindermann W (2007). "Do inhaled beta(2)-agonists have an ergogenic potential in non-asthmatic competitive athletes?". Sports Medicine. 37 (2): 95–102. doi:10.2165/00007256-200737020-00001. PMID 17241101. S2CID 20993439.
114. ^ Pluim BM, de Hon O, Staal JB, Limpens J, Kuipers H, Overbeek SE, et al. (January 2011). "β₂-Agonists and physical performance: a systematic review and meta-analysis of randomized controlled trials". Sports Medicine. 41 (1): 39–57. doi:10.2165/11537540-000000000-00000. PMID 21142283. S2CID 189906919.
115. ^ a b c Baur X, Aasen TB, Burge PS, Heederik D, Henneberger PK, Maestrelli P, et al. (June 2012). ERS Task Force on the Management of Work-related, Asthma. "The management of work-related asthma guidelines: a broader perspective". European Respiratory Review. 21 (124): 125–39. doi:10.1183/09059180.00004711. PMID 22654084.
116. ^ Kunnamo I, ed. (2005). Evidence-based medicine guidelines. Chichester: Wiley. p. 214. ISBN 978-0-470-01184-3.
117. ^ Frew AJ (2008). "Chapter 42: Occupational Asthma". In Castro M, Kraft M (eds.). Clinical Asthma. Philadelphia: Mosby / Elsevier. ISBN 978-0-323-07081-2.
118. ^ Chang JE, White A, Simon RA, Stevenson DD (2012). "Aspirin-exacerbated respiratory disease: burden of disease". Allergy and Asthma Proceedings. 33 (2): 117–21. doi:10.2500/aap.2012.33.3541. PMID 22525387.
119. ^ "Aspirin Exacerbated Respiratory Disease (AERD)". www.aaaai.org. American Academy of Allergy Asthma & Immunology. August 3, 2018.
120. ^ Kennedy JL, Stoner AN, Borish L (November 2016). "Aspirin-exacerbated respiratory disease: Prevalence, diagnosis, treatment, and considerations for the future". American Journal of Rhinology & Allergy. 30 (6): 407–413. doi:10.2500/ajra.2016.30.4370. PMC 5108840. PMID 28124651.
121. ^ a b c Adams KE, Rans TS (December 2013). "Adverse reactions to alcohol and alcoholic beverages". Annals of Allergy, Asthma & Immunology. 111 (6): 439–45. doi:10.1016/j.anai.2013.09.016. PMID 24267355.
122. ^ Peters SP (2014). "Asthma phenotypes: nonallergic (intrinsic) asthma". The Journal of Allergy and Clinical Immunology. In Practice. 2 (6): 650–2. doi:10.1016/j.jaip.2014.09.006. PMID 25439352.
123. ^ a b NHLBI Guideline 2007, p. 46
124. ^ Lichtenstein, Richard (2013). Pediatric emergencies. Philadelphia: Elsevier. p. 1022. ISBN 978-0-323-22733-9. Archived from the original on 2017-09-08.
125. ^ Gibson PG, McDonald VM, Marks GB (September 2010). "Asthma in older adults". Lancet. 376 (9743): 803–13. doi:10.1016/S0140-6736(10)61087-2. PMID 20816547. S2CID 12275555.
126. ^ Hargreave FE, Parameswaran K (August 2006). "Asthma, COPD and bronchitis are just components of airway disease". The European Respiratory Journal. 28 (2): 264–7. doi:10.1183/09031936.06.00056106. PMID 16880365.
127. ^ Diaz, P. Knoell (2009). "23. Chronic obstructive pulmonary disease". Applied therapeutics: the clinical use of drugs (9th ed.). Philadelphia: Lippincott Williams & Wilkins.
128. ^ a b NHLBI Guideline 2007, pp. 184–85
129. ^ "Asthma". World Health Organization. April 2017. Archived from the original on 29 June 2011. Retrieved 30 May 2017.
130. ^ Henneberger PK (April 2007). "Work-exacerbated asthma". Current Opinion in Allergy and Clinical Immunology. 7 (2): 146–51. doi:10.1097/ACI.0b013e328054c640. PMID 17351467. S2CID 20728967.
131. ^ Lodge CJ, Allen KJ, Lowe AJ, Hill DJ, Hosking CS, Abramson MJ, Dharmage SC (2012). "Perinatal cat and dog exposure and the risk of asthma and allergy in the urban environment: a systematic review of longitudinal studies". Clinical & Developmental Immunology. 2012: 176484. doi:10.1155/2012/176484. PMC 3251799. PMID 22235226.
132. ^ Chen CM, Tischer C, Schnappinger M, Heinrich J (January 2010). "The role of cats and dogs in asthma and allergy—a systematic review". International Journal of Hygiene and Environmental Health. 213 (1): 1–31. doi:10.1016/j.ijheh.2009.12.003. PMID 20053584.
133. ^ a b Prescott SL, Tang ML (May 2005). Australasian Society of Clinical Immunology and, Allergy. "The Australasian Society of Clinical Immunology and Allergy position statement: Summary of allergy prevention in children". The Medical Journal of Australia. 182 (9): 464–7. doi:10.5694/j.1326-5377.2005.tb06787.x. PMID 15865590. S2CID 8172491.
134. ^ Cates CJ, Rowe BH (February 2013). "Vaccines for preventing influenza in people with asthma". The Cochrane Database of Systematic Reviews. 2 (2): CD000364. doi:10.1002/14651858.CD000364.pub4. PMC 6999427. PMID 23450529.
135. ^ "Strategic Advisory Group of Experts on Immunization - report of the extraordinary meeting on the influenza A (H1N1) 2009 pandemic, 7 July 2009". Relevé Épidémiologique Hebdomadaire. 84 (30): 301–4. July 2009. PMID 19630186.
136. ^ a b Been JV, Nurmatov UB, Cox B, Nawrot TS, van Schayck CP, Sheikh A (May 2014). "Effect of smoke-free legislation on perinatal and child health: a systematic review and meta-analysis". Lancet. 383 (9928): 1549–60. doi:10.1016/S0140-6736(14)60082-9. PMID 24680633. S2CID 8532979.
137. ^ Ripoll, Brian C. Leutholtz, Ignacio (2011). Exercise and disease management (2nd ed.). Boca Raton: CRC Press. p. 100. ISBN 978-1-4398-2759-8. Archived from the original on 2016-05-06.
138. ^ a b c d e f NHLBI Guideline 2007, p. 213
139. ^ a b "British Guideline on the Management of Asthma" (PDF). Scottish Intercollegiate Guidelines Network. 2008. Archived (PDF) from the original on 19 August 2008. Retrieved 2008-08-04.
140. ^ a b c Kew KM, Nashed M, Dulay V, Yorke J (September 2016). "Cognitive behavioural therapy (CBT) for adults and adolescents with asthma". The Cochrane Database of Systematic Reviews. 9: CD011818. doi:10.1002/14651858.CD011818.pub2. PMC 6457695. PMID 27649894.
141. ^ Paudyal P, Hine P, Theadom A, Apfelbacher CJ, Jones CJ, Yorke J, et al. (May 2014). "Written emotional disclosure for asthma". The Cochrane Database of Systematic Reviews (5): CD007676. doi:10.1002/14651858.CD007676.pub2. PMID 24842151.
142. ^ Bhogal S, Zemek R, Ducharme FM (July 2006). "Written action plans for asthma in children". The Cochrane Database of Systematic Reviews (3): CD005306. doi:10.1002/14651858.CD005306.pub2. PMID 16856090.
143. ^ McCallum GB, Morris PS, Brown N, Chang AB (August 2017). "Culture-specific programs for children and adults from minority groups who have asthma". The Cochrane Database of Systematic Reviews. 8: CD006580. doi:10.1002/14651858.CD006580.pub5. PMC 6483708. PMID 28828760.
144. ^ Kew KM, Carr R, Donovan T, Gordon M (April 2017). "Asthma education for school staff". The Cochrane Database of Systematic Reviews. 4: CD012255. doi:10.1002/14651858.CD012255.pub2. PMC 6478185. PMID 28402017.
145. ^ Welsh EJ, Hasan M, Li P (October 2011). "Home-based educational interventions for children with asthma". The Cochrane Database of Systematic Reviews (10): CD008469. doi:10.1002/14651858.CD008469.pub2. PMID 21975783.
146. ^ Yorke J, Shuldham C (April 2005). "Family therapy for chronic asthma in children". The Cochrane Database of Systematic Reviews (2): CD000089. doi:10.1002/14651858.CD000089.pub2. PMC 7038646. PMID 15846599.
147. ^ Harris K, Kneale D, Lasserson TJ, McDonald VM, Grigg J, Thomas J (January 2019). Cochrane Airways Group (ed.). "School-based self-management interventions for asthma in children and adolescents: a mixed methods systematic review". The Cochrane Database of Systematic Reviews. 1: CD011651. doi:10.1002/14651858.CD011651.pub2. PMC 6353176. PMID 30687940.
148. ^ Kew KM, Malik P, Aniruddhan K, Normansell R (October 2017). "Shared decision-making for people with asthma". The Cochrane Database of Systematic Reviews. 10: CD012330. doi:10.1002/14651858.CD012330.pub2. PMC 6485676. PMID 28972652.
149. ^ Gatheral TL, Rushton A, Evans DJ, Mulvaney CA, Halcovitch NR, Whiteley G, et al. (April 2017). "Personalised asthma action plans for adults with asthma". The Cochrane Database of Systematic Reviews. 4: CD011859. doi:10.1002/14651858.CD011859.pub2. PMC 6478068. PMID 28394084.
150. ^ Welsh EJ, Carr R (September 2015). Cochrane Airways Group (ed.). "Pulse oximeters to self monitor oxygen saturation levels as part of a personalised asthma action plan for people with asthma". The Cochrane Database of Systematic Reviews (9): CD011584. doi:10.1002/14651858.CD011584.pub2. PMID 26410043.
151. ^ NHLBI Guideline 2007, p. 69
152. ^ Thomson NC, Spears M (February 2005). "The influence of smoking on the treatment response in patients with asthma". Current Opinion in Allergy and Clinical Immunology. 5 (1): 57–63. doi:10.1097/00130832-200502000-00011. PMID 15643345. S2CID 25065026.
153. ^ Stapleton M, Howard-Thompson A, George C, Hoover RM, Self TH (2011). "Smoking and asthma". Journal of the American Board of Family Medicine. 24 (3): 313–22. doi:10.3122/jabfm.2011.03.100180. PMID 21551404.
154. ^ Singh M, Jaiswal N (June 2013). "Dehumidifiers for chronic asthma". The Cochrane Database of Systematic Reviews (6): CD003563. doi:10.1002/14651858.CD003563.pub2. PMID 23760885.
155. ^ Carson KV, Chandratilleke MG, Picot J, Brinn MP, Esterman AJ, Smith BJ (September 2013). "Physical training for asthma". The Cochrane Database of Systematic Reviews. 9 (9): CD001116. doi:10.1002/14651858.CD001116.pub4. PMID 24085631.
156. ^ Yang ZY, Zhong HB, Mao C, Yuan JQ, Huang YF, Wu XY, et al. (April 2016). "Yoga for asthma". The Cochrane Database of Systematic Reviews. 4: CD010346. doi:10.1002/14651858.cd010346.pub2. PMC 6880926. PMID 27115477.
157. ^ Adeniyi FB, Young T (July 2012). "Weight loss interventions for chronic asthma". The Cochrane Database of Systematic Reviews (7): CD009339. doi:10.1002/14651858.CD009339.pub2. PMID 22786526.
158. ^ Cheng J, Pan T, Ye GH, Liu Q (July 2005). "Calorie controlled diet for chronic asthma". The Cochrane Database of Systematic Reviews (3): CD004674. doi:10.1002/14651858.CD004674.pub2. PMID 16034941.
159. ^ "QRG 153 • British guideline on the management of asthma" (PDF). SIGN. September 2016. Archived (PDF) from the original on 9 October 2016. Retrieved 6 October 2016.
160. ^ Normansell R, Sayer B, Waterson S, Dennett EJ, Del Forno M, Dunleavy A (June 2018). "Antibiotics for exacerbations of asthma". The Cochrane Database of Systematic Reviews. 6: CD002741. doi:10.1002/14651858.CD002741.pub2. PMC 6513273. PMID 29938789.
161. ^ Parsons JP, Hallstrand TS, Mastronarde JG, Kaminsky DA, Rundell KW, Hull JH, et al. (May 2013). "An official American Thoracic Society clinical practice guideline: exercise-induced bronchoconstriction". American Journal of Respiratory and Critical Care Medicine. 187 (9): 1016–27. doi:10.1164/rccm.201303-0437ST. PMID 23634861.
162. ^ a b Griffiths B, Ducharme FM (August 2013). "Combined inhaled anticholinergics and short-acting beta2-agonists for initial treatment of acute asthma in children". The Cochrane Database of Systematic Reviews (8): CD000060. doi:10.1002/14651858.CD000060.pub2. PMID 23966133.
163. ^ a b Kirkland SW, Vandenberghe C, Voaklander B, Nikel T, Campbell S, Rowe BH (January 2017). "Combined inhaled beta-agonist and anticholinergic agents for emergency management in adults with asthma". The Cochrane Database of Systematic Reviews. 1: CD001284. doi:10.1002/14651858.CD001284.pub2. PMC 6465060. PMID 28076656.
164. ^ Vézina K, Chauhan BF, Ducharme FM (July 2014). "Inhaled anticholinergics and short-acting beta(2)-agonists versus short-acting beta2-agonists alone for children with acute asthma in hospital". The Cochrane Database of Systematic Reviews. 7 (7): CD010283. doi:10.1002/14651858.CD010283.pub2. PMID 25080126.
165. ^ Teoh L, Cates CJ, Hurwitz M, Acworth JP, van Asperen P, Chang AB (April 2012). "Anticholinergic therapy for acute asthma in children" (PDF). The Cochrane Database of Systematic Reviews (4): CD003797. doi:10.1002/14651858.CD003797.pub2. PMID 22513916.
166. ^ Rodrigo GJ, Nannini LJ (March 2006). "Comparison between nebulized adrenaline and beta2 agonists for the treatment of acute asthma. A meta-analysis of randomized trials". The American Journal of Emergency Medicine. 24 (2): 217–22. doi:10.1016/j.ajem.2005.10.008. PMID 16490653.
167. ^ NHLBI Guideline 2007, p. 351
168. ^ Rowe BH, Spooner CH, Ducharme FM, Bretzlaff JA, Bota GW (July 2007). "Corticosteroids for preventing relapse following acute exacerbations of asthma". The Cochrane Database of Systematic Reviews (3): CD000195. doi:10.1002/14651858.CD000195.pub2. PMID 17636617.
169. ^ Smith M, Iqbal S, Elliott TM, Everard M, Rowe BH (2003). "Corticosteroids for hospitalised children with acute asthma". The Cochrane Database of Systematic Reviews (2): CD002886. doi:10.1002/14651858.CD002886. PMC 6999806. PMID 12804441.
170. ^ Rowe BH, Spooner C, Ducharme FM, Bretzlaff JA, Bota GW (2001). "Early emergency department treatment of acute asthma with systemic corticosteroids". The Cochrane Database of Systematic Reviews (1): CD002178. doi:10.1002/14651858.CD002178. PMC 7025797. PMID 11279756.
171. ^ Adams N, Bestall J, Jones P (2001). "Beclomethasone at different doses for chronic asthma (review)". The Cochrane Database of Systematic Reviews (1): CD002879. doi:10.1002/14651858.CD002879. PMC 6999810. PMID 11279769.
172. ^ NHLBI Guideline 2007, p. 218
173. ^ a b Ducharme FM, Ni Chroinin M, Greenstone I, Lasserson TJ (May 2010). Ducharme FM (ed.). "Addition of long-acting beta2-agonists to inhaled corticosteroids versus same dose inhaled corticosteroids for chronic asthma in adults and children". The Cochrane Database of Systematic Reviews (5): CD005535. doi:10.1002/14651858.CD005535.pub2. PMC 4169792. PMID 20464739.
174. ^ a b Ni Chroinin M, Greenstone I, Lasserson TJ, Ducharme FM (October 2009). "Addition of inhaled long-acting beta2-agonists to inhaled steroids as first line therapy for persistent asthma in steroid-naive adults and children". The Cochrane Database of Systematic Reviews (4): CD005307. doi:10.1002/14651858.CD005307.pub2. PMC 4170786. PMID 19821344.
175. ^ Ducharme FM, Ni Chroinin M, Greenstone I, Lasserson TJ (April 2010). Ducharme FM (ed.). "Addition of long-acting beta2-agonists to inhaled steroids versus higher dose inhaled steroids in adults and children with persistent asthma". The Cochrane Database of Systematic Reviews (4): CD005533. doi:10.1002/14651858.CD005533.pub2. PMC 4169793. PMID 20393943.
176. ^ a b Fanta CH (March 2009). "Asthma". The New England Journal of Medicine. 360 (10): 1002–14. doi:10.1056/NEJMra0804579. PMID 19264689.
177. ^ Cates CJ, Cates MJ (April 2012). Cates CJ (ed.). "Regular treatment with formoterol for chronic asthma: serious adverse events". The Cochrane Database of Systematic Reviews. 4 (4): CD006923. doi:10.1002/14651858.CD006923.pub3. PMC 4017186. PMID 22513944.
178. ^ Cates CJ, Cates MJ (July 2008). Cates CJ (ed.). "Regular treatment with salmeterol for chronic asthma: serious adverse events". The Cochrane Database of Systematic Reviews (3): CD006363. doi:10.1002/14651858.CD006363.pub2. PMC 4015854. PMID 18646149.
179. ^ a b Chauhan BF, Chartrand C, Ni Chroinin M, Milan SJ, Ducharme FM (November 2015). "Addition of long-acting beta2-agonists to inhaled corticosteroids for chronic asthma in children". The Cochrane Database of Systematic Reviews (11): CD007949. doi:10.1002/14651858.CD007949.pub2. PMC 4167878. PMID 26594816.
180. ^ Chauhan BF, Ducharme FM (January 2014). "Addition to inhaled corticosteroids of long-acting beta2-agonists versus anti-leukotrienes for chronic asthma" (PDF). The Cochrane Database of Systematic Reviews (1): CD003137. doi:10.1002/14651858.CD003137.pub5. PMID 24459050.
181. ^ a b Chauhan BF, Jeyaraman MM, Singh Mann A, Lys J, Abou-Setta AM, Zarychanski R, Ducharme FM (March 2017). "Addition of anti-leukotriene agents to inhaled corticosteroids for adults and adolescents with persistent asthma". The Cochrane Database of Systematic Reviews. 3: CD010347. doi:10.1002/14651858.CD010347.pub2. PMC 6464690. PMID 28301050.
182. ^ Ducharme F, Schwartz Z, Hicks G, Kakuma R (2004). "Addition of anti-leukotriene agents to inhaled corticosteroids for chronic asthma". The Cochrane Database of Systematic Reviews (2): CD003133. doi:10.1002/14651858.CD003133.pub2. PMID 15106191.
183. ^ GINA 2011, p. 74
184. ^ Watts K, Chavasse RJ (May 2012). Watts K (ed.). "Leukotriene receptor antagonists in addition to usual care for acute asthma in adults and children". The Cochrane Database of Systematic Reviews. 5 (5): CD006100. doi:10.1002/14651858.CD006100.pub2. PMC 7387678. PMID 22592708.
185. ^ Miligkos M, Bannuru RR, Alkofide H, Kher SR, Schmid CH, Balk EM (November 2015). "Leukotriene-receptor antagonists versus placebo in the treatment of asthma in adults and adolescents: a systematic review and meta-analysis". Annals of Internal Medicine. 163 (10): 756–67. doi:10.7326/M15-1059. PMC 4648683. PMID 26390230.
186. ^ British Guideline 2009, p. 43
187. ^ Chauhan BF, Ben Salah R, Ducharme FM (October 2013). "Addition of anti-leukotriene agents to inhaled corticosteroids in children with persistent asthma". The Cochrane Database of Systematic Reviews (10): CD009585. doi:10.1002/14651858.CD009585.pub2. PMC 4235447. PMID 24089325.
188. ^ "Zyflo (Zileuton tablets)" (PDF). United States Food and Drug Administration. Cornerstone Therapeutics Inc. June 2012. p. 1. Archived (PDF) from the original on 13 December 2014. Retrieved 12 December 2014.
189. ^ a b Nair P, Milan SJ, Rowe BH (December 2012). "Addition of intravenous aminophylline to inhaled beta(2)-agonists in adults with acute asthma". The Cochrane Database of Systematic Reviews. 12: CD002742. doi:10.1002/14651858.CD002742.pub2. PMC 7093892. PMID 23235591.
190. ^ Kew KM, Beggs S, Ahmad S (May 2015). "Stopping long-acting beta2-agonists (LABA) for children with asthma well controlled on LABA and inhaled corticosteroids". The Cochrane Database of Systematic Reviews (5): CD011316. doi:10.1002/14651858.CD011316.pub2. PMC 6486153. PMID 25997166.
191. ^ a b c Ahmad S, Kew KM, Normansell R (June 2015). "Stopping long-acting beta2-agonists (LABA) for adults with asthma well controlled by LABA and inhaled corticosteroids" (PDF). The Cochrane Database of Systematic Reviews (6): CD011306. doi:10.1002/14651858.CD011306.pub2. PMID 26089258.
192. ^ McDonald NJ, Bara AI (2003). "Anticholinergic therapy for chronic asthma in children over two years of age". The Cochrane Database of Systematic Reviews (3): CD003535. doi:10.1002/14651858.CD003535. PMID 12917970.
193. ^ Westby M, Benson M, Gibson P (2004). "Anticholinergic agents for chronic asthma in adults". The Cochrane Database of Systematic Reviews (3): CD003269. doi:10.1002/14651858.CD003269.pub2. PMC 6483359. PMID 15266477.
194. ^ Dean T, Dewey A, Bara A, Lasserson TJ, Walters EH (2003). "Chloroquine as a steroid sparing agent for asthma". The Cochrane Database of Systematic Reviews (4): CD003275. doi:10.1002/14651858.CD003275. PMID 14583965.
195. ^ Davies H, Olson L, Gibson P (2000). "Methotrexate as a steroid sparing agent for asthma in adults". The Cochrane Database of Systematic Reviews (2): CD000391. doi:10.1002/14651858.CD000391. PMC 6483672. PMID 10796540.
196. ^ NHLBI Guideline 2007, p. 250
197. ^ Cates CJ, Welsh EJ, Rowe BH (September 2013). Cochrane Airways Group (ed.). "Holding chambers (spacers) versus nebulisers for beta-agonist treatment of acute asthma". The Cochrane Database of Systematic Reviews (9): CD000052. doi:10.1002/14651858.CD000052.pub3. PMC 7032675. PMID 24037768.
198. ^ Travers AH, Milan SJ, Jones AP, Camargo CA, Rowe BH (December 2012). "Addition of intravenous beta(2)-agonists to inhaled beta(2)-agonists for acute asthma". The Cochrane Database of Systematic Reviews. 12: CD010179. doi:10.1002/14651858.CD010179. PMID 23235685.
199. ^ Rodriguez C, Sossa M, Lozano JM (April 2008). "Commercial versus home-made spacers in delivering bronchodilator therapy for acute therapy in children". The Cochrane Database of Systematic Reviews (2): CD005536. doi:10.1002/14651858.CD005536.pub2. PMC 6483735. PMID 18425921.
200. ^ a b Rachelefsky G (January 2009). "Inhaled corticosteroids and asthma control in children: assessing impairment and risk". Pediatrics. 123 (1): 353–66. doi:10.1542/peds.2007-3273. PMID 19117903. S2CID 22386752.
201. ^ Dahl R (August 2006). "Systemic side effects of inhaled corticosteroids in patients with asthma". Respiratory Medicine. 100 (8): 1307–17. doi:10.1016/j.rmed.2005.11.020. PMID 16412623.
202. ^ Thomas MS, Parolia A, Kundabala M, Vikram M (June 2010). "Asthma and oral health: a review". Australian Dental Journal. 55 (2): 128–33. doi:10.1111/j.1834-7819.2010.01226.x. PMID 20604752.
203. ^ Domino, Frank J.; Baldor, Robert A.; Golding, Jeremy; Grimes, Jill A. (2014). The 5-Minute Clinical Consult Premium 2015. Lippincott Williams & Wilkins. p. 192. ISBN 978-1-4511-9215-5.
204. ^ Skoner DP (December 2016). "Inhaled corticosteroids: Effects on growth and bone health". Annals of Allergy, Asthma & Immunology. 117 (6): 595–600. doi:10.1016/j.anai.2016.07.043. PMID 27979015.
205. ^ a b Petsky HL, Kew KM, Turner C, Chang AB (September 2016). "Exhaled nitric oxide levels to guide treatment for adults with asthma". The Cochrane Database of Systematic Reviews. 9: CD011440. doi:10.1002/14651858.CD011440.pub2. PMC 6457753. PMID 27580628.
206. ^ a b Petsky HL, Kew KM, Chang AB (November 2016). "Exhaled nitric oxide levels to guide treatment for children with asthma". The Cochrane Database of Systematic Reviews. 11: CD011439. doi:10.1002/14651858.CD011439.pub2. PMC 6432844. PMID 27825189.
207. ^ a b c Rodrigo GJ, Rodrigo C, Hall JB (March 2004). "Acute asthma in adults: a review". Chest. 125 (3): 1081–102. doi:10.1378/chest.125.3.1081. PMID 15006973.
208. ^ Keeney GE, Gray MP, Morrison AK, Levas MN, Kessler EA, Hill GD, et al. (March 2014). "Dexamethasone for acute asthma exacerbations in children: a meta-analysis". Pediatrics. 133 (3): 493–9. doi:10.1542/peds.2013-2273. PMC 3934336. PMID 24515516.
209. ^ Rowe BH, Kirkland SW, Vandermeer B, Campbell S, Newton A, Ducharme FM, Villa-Roel C (March 2017). "Prioritizing Systemic Corticosteroid Treatments to Mitigate Relapse in Adults With Acute Asthma: A Systematic Review and Network Meta-analysis". Academic Emergency Medicine. 24 (3): 371–381. doi:10.1111/acem.13107. PMID 27664401. S2CID 30182169.
210. ^ Noppen M (August 2002). "Magnesium treatment for asthma: where do we stand?". Chest. 122 (2): 396–8. doi:10.1378/chest.122.2.396. PMID 12171805.
211. ^ Griffiths B, Kew KM (April 2016). "Intravenous magnesium sulfate for treating children with acute asthma in the emergency department" (PDF). The Cochrane Database of Systematic Reviews. 4: CD011050. doi:10.1002/14651858.CD011050.pub2. PMC 6599814. PMID 27126744.
212. ^ Kew KM, Kirtchuk L, Michell CI (May 2014). Kew KM (ed.). "Intravenous magnesium sulfate for treating adults with acute asthma in the emergency department" (PDF). The Cochrane Database of Systematic Reviews. 5 (5): CD010909. doi:10.1002/14651858.CD010909.pub2. PMID 24865567.
213. ^ a b Knightly R, Milan SJ, Hughes R, Knopp-Sihota JA, Rowe BH, Normansell R, Powell C (November 2017). "Inhaled magnesium sulfate in the treatment of acute asthma". The Cochrane Database of Systematic Reviews. 11: CD003898. doi:10.1002/14651858.CD003898.pub6. PMC 6485984. PMID 29182799.
214. ^ GINA 2011, p. 37
215. ^ NHLBI Guideline 2007, p. 399
216. ^ a b Castro M, Musani AI, Mayse ML, Shargill NS (April 2010). "Bronchial thermoplasty: a novel technique in the treatment of severe asthma". Therapeutic Advances in Respiratory Disease. 4 (2): 101–16. doi:10.1177/1753465810367505. PMID 20435668.
217. ^ Boulet LP, Laviolette M (May–Jun 2012). "Is there a role for bronchial thermoplasty in the treatment of asthma?". Canadian Respiratory Journal. 19 (3): 191–2. doi:10.1155/2012/853731. PMC 3418092. PMID 22679610.
218. ^ GINA 2011, p. 70
219. ^ "Pulmonary-Allergy Drugs Advisory Committee Meeting". FDA. July 25, 2018. Retrieved May 9, 2019.
220. ^ Sastre J, Dávila I (June 2018). "Dupilumab: A New Paradigm for the Treatment of Allergic Diseases". Journal of Investigational Allergology & Clinical Immunology. 28 (3): 139–150. doi:10.18176/jiaci.0254. PMID 29939132.
221. ^ Israel E, Reddel HK (September 2017). "Severe and Difficult-to-Treat Asthma in Adults". The New England Journal of Medicine. 377 (10): 965–976. doi:10.1056/NEJMra1608969. PMID 28877019. S2CID 44767865.
222. ^ McQueen RB, Sheehan DN, Whittington MD, van Boven JF, Campbell JD (August 2018). "Cost-Effectiveness of Biological Asthma Treatments: A Systematic Review and Recommendations for Future Economic Evaluations". PharmacoEconomics. 36 (8): 957–971. doi:10.1007/s40273-018-0658-x. PMID 29736895. S2CID 13681118.
223. ^ Farne HA, Wilson A, Powell C, Bax L, Milan SJ (September 2017). Cochrane Airways Group (ed.). "Anti-IL5 therapies for asthma". The Cochrane Database of Systematic Reviews. 9: CD010834. doi:10.1002/14651858.CD010834.pub3. PMC 6483800. PMID 28933516.
224. ^ Lin SY, Erekosima N, Kim JM, Ramanathan M, Suarez-Cuervo C, Chelladurai Y, et al. (March 2013). "Sublingual immunotherapy for the treatment of allergic rhinoconjunctivitis and asthma: a systematic review". JAMA. 309 (12): 1278–88. doi:10.1001/jama.2013.2049. PMID 23532243.
225. ^ Korang SK, Feinberg J, Wetterslev J, Jakobsen JC (September 2016). "Non-invasive positive pressure ventilation for acute asthma in children". The Cochrane Database of Systematic Reviews. 9: CD012067. doi:10.1002/14651858.CD012067.pub2. PMC 6457810. PMID 27687114.
226. ^ Blanc PD, Trupin L, Earnest G, Katz PP, Yelin EH, Eisner MD (November 2001). "Alternative therapies among adults with a reported diagnosis of asthma or rhinosinusitis : data from a population-based survey". Chest. 120 (5): 1461–7. doi:10.1378/chest.120.5.1461. PMID 11713120.
227. ^ Shenfield G, Lim E, Allen H (June 2002). "Survey of the use of complementary medicines and therapies in children with asthma". Journal of Paediatrics and Child Health. 38 (3): 252–7. doi:10.1046/j.1440-1754.2002.00770.x. PMID 12047692. S2CID 22129160.
228. ^ Milan SJ, Hart A, Wilkinson M (October 2013). "Vitamin C for asthma and exercise-induced bronchoconstriction". The Cochrane Database of Systematic Reviews (10): CD010391. doi:10.1002/14651858.CD010391.pub2. PMC 6513466. PMID 24154977.
229. ^ Wilkinson M, Hart A, Milan SJ, Sugumar K (June 2014). "Vitamins C and E for asthma and exercise-induced bronchoconstriction". The Cochrane Database of Systematic Reviews (6): CD010749. doi:10.1002/14651858.CD010749.pub2. PMC 6513032. PMID 24936673.
230. ^ Hemilä H (June 2013). "Vitamin C may alleviate exercise-induced bronchoconstriction: a meta-analysis". BMJ Open. 3 (6): e002416. doi:10.1136/bmjopen-2012-002416. PMC 3686214. PMID 23794586.
231. ^ Woods, R. K.; Thien, F. C.; Abramson, M. J. (2002). "Dietary marine fatty acids (fish oil) for asthma in adults and children". The Cochrane Database of Systematic Reviews (3): CD001283. doi:10.1002/14651858.CD001283. ISSN 1469-493X. PMC 6436486. PMID 12137622.
232. ^ Pogson Z, McKeever T (March 2011). "Dietary sodium manipulation and asthma". The Cochrane Database of Systematic Reviews (3): CD000436. doi:10.1002/14651858.CD000436.pub3. PMC 7032646. PMID 21412865.
233. ^ a b Martineau AR, Cates CJ, Urashima M, Jensen M, Griffiths AP, Nurmatov U, et al. (September 2016). "Vitamin D for the management of asthma" (PDF). The Cochrane Database of Systematic Reviews. 9: CD011511. doi:10.1002/14651858.CD011511.pub2. PMC 6457769. PMID 27595415.
234. ^ a b Zhou Y, Yang M, Dong BR (June 2012). "Monosodium glutamate avoidance for chronic asthma in adults and children". The Cochrane Database of Systematic Reviews (6): CD004357. doi:10.1002/14651858.CD004357.pub4. PMID 22696342.
235. ^ a b NHLBI Guideline 2007, p. 240
236. ^ McCarney RW, Brinkhaus B, Lasserson TJ, Linde K (2004). McCarney RW (ed.). "Acupuncture for chronic asthma". The Cochrane Database of Systematic Reviews (1): CD000008. doi:10.1002/14651858.CD000008.pub2. PMC 7061358. PMID 14973944.
237. ^ Blackhall K, Appleton S, Cates CJ (September 2012). Blackhall K (ed.). "Ionisers for chronic asthma". The Cochrane Database of Systematic Reviews. 9 (9): CD002986. doi:10.1002/14651858.CD002986.pub2. PMC 6483773. PMID 22972060.
238. ^ Hondras MA, Linde K, Jones AP (April 2005). Hondras MA (ed.). "Manual therapy for asthma". The Cochrane Database of Systematic Reviews (2): CD001002. doi:10.1002/14651858.CD001002.pub2. PMID 15846609.
239. ^ Macêdo TM, Freitas DA, Chaves GS, Holloway EA, Mendonça KM (April 2016). "Breathing exercises for children with asthma". The Cochrane Database of Systematic Reviews. 4: CD011017. doi:10.1002/14651858.CD011017.pub2. PMC 7104663. PMID 27070225.
240. ^ Sergel, Michelle J.; Cydulka, Rita K. (September 2009). "Ch. 75: Asthma". In Wolfson, Allan B.; Harwood-Nuss, Ann (eds.). Harwood-Nuss' Clinical Practice of Emergency Medicine (5th ed.). Lippincott Williams & Wilkins. pp. 432–. ISBN 978-0-7817-8943-1.
241. ^ NHLBI Guideline 2007, p. 1
242. ^ a b "The Global Asthma Report 2014". Archived from the original on 27 April 2016. Retrieved 10 May 2016.
243. ^ Organization, World Health (2008). The global burden of disease : 2004 update ([Online-Ausg.] ed.). Geneva: World Health Organization. p. 35. ISBN 978-92-4-156371-0.
244. ^ Maddox L, Schwartz DA (2002). "The pathophysiology of asthma". Annual Review of Medicine. 53: 477–98. doi:10.1146/annurev.med.53.082901.103921. PMID 11818486.
245. ^ Beckett PA, Howarth PH (February 2003). "Pharmacotherapy and airway remodelling in asthma?". Thorax. 58 (2): 163–74. doi:10.1136/thorax.58.2.163. PMC 1746582. PMID 12554904.
246. ^ Silva N, Carona C, Crespo C, Canavarro MC (June 2015). "Quality of life in pediatric asthma patients and their parents: a meta-analysis on 20 years of research". Expert Review of Pharmacoeconomics & Outcomes Research. 15 (3): 499–519. doi:10.1586/14737167.2015.1008459. hdl:10316/45410. PMID 25651982. S2CID 8768325.
247. ^ "WHO Disease and injury country estimates". World Health Organization. 2009. Archived from the original on 11 November 2009. Retrieved November 11, 2009.
248. ^ "Asthma prevalence". Our World in Data. Retrieved 15 February 2020.
249. ^ "World Health Organization Fact Sheet No 307: Asthma". 2011. Archived from the original on 2011-06-29. Retrieved Jan 17, 2013.
250. ^ GINA 2011, p. 3
251. ^ Vos T, Flaxman AD, Naghavi M, Lozano R, Michaud C, Ezzati M, et al. (December 2012). "Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2163–96. doi:10.1016/S0140-6736(12)61729-2. PMC 6350784. PMID 23245607.
252. ^ Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, et al. (December 2012). "Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2095–128. doi:10.1016/S0140-6736(12)61728-0. hdl:10536/DRO/DU:30050819. PMID 23245604. S2CID 1541253.
253. ^ World Health Organization. "WHO: Asthma". Archived from the original on 15 December 2007. Retrieved 2007-12-29.
254. ^ Bush A, Menzies-Gow A (December 2009). "Phenotypic differences between pediatric and adult asthma". Proceedings of the American Thoracic Society. 6 (8): 712–9. doi:10.1513/pats.200906-046DP. PMID 20008882.
255. ^ Weiss AJ, Wier LM, Stocks C, Blanchard J (June 2014). "Overview of Emergency Department Visits in the United States, 2011". HCUP Statistical Brief #174. Rockville, MD: Agency for Healthcare Research and Quality. Archived from the original on 2014-08-03.
256. ^ Grant EN, Wagner R, Weiss KB (August 1999). "Observations on emerging patterns of asthma in our society". The Journal of Allergy and Clinical Immunology. 104 (2 Pt 2): S1-9. doi:10.1016/S0091-6749(99)70268-X. PMID 10452783.
257. ^ Bousquet J, Bousquet PJ, Godard P, Daures JP (July 2005). "The public health implications of asthma". Bulletin of the World Health Organization. 83 (7): 548–54. PMC 2626301. PMID 16175830.
258. ^ Anderson HR, Gupta R, Strachan DP, Limb ES (January 2007). "50 years of asthma: UK trends from 1955 to 2004". Thorax. 62 (1): 85–90. doi:10.1136/thx.2006.066407. PMC 2111282. PMID 17189533.
259. ^ Masoli, Matthew (2004). Global Burden of Asthma (PDF). p. 9. Archived from the original (PDF) on 2013-05-02.
260. ^ "Asthma-related death rate in UK among highest in Europe, charity analysis finds". Pharmaceutical Journal. 3 May 2018. Retrieved 13 August 2018.
261. ^ "Asthma attacks triple when children return to school in September". NHS UK. 3 July 2019. Retrieved 23 August 2019.
262. ^ a b c Barrett ML, Wier LM, Washington R (January 2014). "Trends in Pediatric and Adult Hospital Stays for Asthma, 2000–2010". HCUP Statistical Brief #169. Rockville, MD: Agency for Healthcare Research and Quality. Archived from the original on 2014-03-28.
263. ^ Rosner, Fred (2002). "The Life of Moses Maimonides, a Prominent Medieval Physician" (PDF). Einstein Quart J Biol Med. 19 (3): 125–28. Archived (PDF) from the original on 2009-03-05.
264. ^ Thorowgood JC (November 1873). "On Bronchial Asthma". British Medical Journal. 2 (673): 600. doi:10.1136/bmj.2.673.600. PMC 2294647. PMID 20747287.
265. ^ Gaskoin G (March 1872). "On the Treatment of Asthma". British Medical Journal. 1 (587): 339. doi:10.1136/bmj.1.587.339. PMC 2297349. PMID 20746575.
266. ^ Berkart JB (June 1880). "The Treatment of Asthma". British Medical Journal. 1 (1016): 917–8. doi:10.1136/bmj.1.1016.917. PMC 2240555. PMID 20749537.
Berkart JB (June 1880). "The Treatment of Asthma". British Medical Journal. 1 (1017): 960–2. doi:10.1136/bmj.1.1017.960. PMC 2240530. PMID 20749546.
267. ^ Bosworth FH (1886). "Hay Fever, Asthma, and Allied Affections". Transactions of the ... Annual Meeting of the American Climatological Association. American Climatological Association. Annual Meeting. 2: 151–70. PMC 2526599. PMID 21407325.
268. ^ Doig RL (February 1905). "Epinephrin; Especially in Asthma". California State Journal of Medicine. 3 (2): 54–5. PMC 1650334. PMID 18733372.
269. ^ von Mutius E, Drazen JM (March 2012). "A patient with asthma seeks medical advice in 1828, 1928, and 2012". The New England Journal of Medicine. 366 (9): 827–34. doi:10.1056/NEJMra1102783. PMID 22375974. S2CID 5143546.
270. ^ Crompton G (December 2006). "A brief history of inhaled asthma therapy over the last fifty years". Primary Care Respiratory Journal. 15 (6): 326–31. doi:10.1016/j.pcrj.2006.09.002. PMC 6730840. PMID 17092772.
271. ^ David McCullough (1981). Mornings on Horseback: The Story of an Extraordinary Family, a Vanished Way of Life and the Unique Child Who Became Theodore Roosevelt. Simon and Schuster. pp. 93–108. ISBN 978-0-7432-1830-6. Archived from the original on 2015-04-07.
272. ^ a b Opolski M, Wilson I (September 2005). "Asthma and depression: a pragmatic review of the literature and recommendations for future research". Clinical Practice and Epidemiology in Mental Health. 1: 18. doi:10.1186/1745-0179-1-18. PMC 1253523. PMID 16185365.
273. ^ "Bangladeshi man with asthma wins France deportation fight". The Guardian. Retrieved 12 January 2021.
### Notes
* National Asthma Education and Prevention Program (2007). "Expert Panel Report 3: Guidelines for the Diagnosis and Management of Asthma" (PDF). National Heart Lung and Blood Institute. Archived from the original (PDF) on 2013-10-19. Retrieved 2005-08-31.
* "British Guideline on the Management of Asthma" (PDF). British Thoracic Society. 2012 [2008].
* "Global Strategy for Asthma Management and Prevention" (PDF). Global Initiative for Asthma. 2011. Archived from the original (PDF) on 2012-11-20.
## External links
Asthmaat Wikipedia's sister projects
* Definitions from Wiktionary
* Media from Wikimedia Commons
* Textbooks from Wikibooks
* Data from Wikidata
* Asthma at Curlie
Classification
D
* ICD-10: J45
* ICD-9-CM: 493
* OMIM: 600807
* MeSH: D001249
* DiseasesDB: 1006
* SNOMED CT: 195967001
External resources
* MedlinePlus: 000141
* eMedicine: article/806890
* Patient UK: Asthma
* 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
* GND: 4069674-1
* LCCN: sh85008860
*[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
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Asthma
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c3714497
| 24,900 |
wikipedia
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https://en.wikipedia.org/wiki/Asthma
| 2021-01-18T18:35:50 |
{"mesh": ["D001249"], "umls": ["C3714497"], "wikidata": ["Q35869"]}
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Clinical sign of congenital conditions
Low-set ears
SpecialtyMedical genetics
Low-set ears are a clinical feature in which the ears are positioned lower on the head than usual. They are present in many congenital conditions. Specifically, low-set ears are defined as outer ears positioned two or more standard deviations lower than the population average.[1]
Low-set ears can be associated with conditions such as:
* Down syndrome[2]
* Turner syndrome
* Noonan syndrome[3]
* Patau syndrome[4]
* DiGeorge syndrome[5]
* Cri du chat syndrome
* Edwards syndrome
* Fragile X syndrome
* Okamoto syndrome
It is usually bilateral, but it can be unilateral in Goldenhar syndrome.[6]
## See also[edit]
* LEOPARD syndrome
## References[edit]
1. ^ Sivan Y, Merlob P, Reisner SH (June 1983). "Assessment of ear length and low set ears in newborn infants". J. Med. Genet. 20 (3): 213–5. doi:10.1136/jmg.20.3.213. PMC 1049049. PMID 6876114.
2. ^ "Down's Syndrome".
3. ^ Sanchez-Cascos, A. (1983). "The Noonan syndrome". European Heart Journal. 4 (4): 223–229. doi:10.1093/oxfordjournals.eurheartj.a061452. PMID 6884370.
4. ^ H. Bruce Ostler (2004). Diseases of the eye and skin: a color atlas. Lippincott Williams & Wilkins. p. 72. ISBN 978-0-7817-4999-2. Retrieved 13 April 2010.
5. ^ Michael Crocetti; Michael A. Barone; Frank A. Oski (2004). Oski's essential pediatrics. Lippincott Williams & Wilkins. p. 675. ISBN 978-0-7817-3770-8. Retrieved 27 October 2010.
6. ^ "ear (low set)". GPnotebook.
## External links[edit]
Classification
D
* ICD-10: Q17.4
* ICD-9-CM: 744.29 (CDC/BPA 744.245)
External resources
* MedlinePlus: 003303
* v
* t
* e
Congenital malformations and deformations of ears
Size
* Macrotia
* Microtia
* Anotia
Position
* Low-set ears
Other
* Accessory auricle
* Mondini dysplasia
This medical sign 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
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Low-set ears
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c0239234
| 24,901 |
wikipedia
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https://en.wikipedia.org/wiki/Low-set_ears
| 2021-01-18T19:08:42 |
{"icd-9": ["744.29"], "icd-10": ["Q17.4"], "wikidata": ["Q6692784"]}
|
A number sign (#) is used with this entry because autosomal dominant Parkinson disease-8 (PARK8) is caused by heterozygous mutation in the LRRK2 gene (609007), which encodes dardarin, on chromosome 12q12.
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Some patients with mutations in the LRRK2 gene may be classified as having Lewy body disease or Lewy body dementia (127750) or various forms of frontotemporal dementia (FTD; 600274).
Dachsel and Farrer (2010) provided a review of the LRRK2 gene and its role in Parkinson disease.
Clinical Features
Hasegawa and Kowa (1997) reported a large Japanese family with autosomal dominant parkinsonism characterized by laterality of parkinsonism at onset, mean age of onset at 51 +/- 6 years, and favorable response to dopaminergic medication. Neuropathologic examination showed pure nigral degeneration without Lewy bodies or neurofibrillary tangles.
Wszolek et al. (1995) reported a large family from western Nebraska in which 18 members spanning 6 generations had slowly progressive parkinsonism inherited in an autosomal dominant pattern. The family's ancestors probably immigrated to the United States from England. Clinical features included bradykinesia, rigidity, resting tremor, postural instability, and favorable response to levodopa. Postmortem examination of 1 affected individual showed neuronal and pigmentary loss, gliosis, and Lewy bodies in the substantia nigra. In a follow-up report of the same family, Wszolek et al. (2004) reported 4 additional affected members. Mean age at onset for all patients was 65 years. Pathologic examination of 4 patients showed neuronal loss and gliosis in the substantia nigra in all, but variable findings, including Lewy bodies in only 2 of 4 patients and tau (MAPT; 157140) pathology in 1 of 4, were also seen. Using PET scan to evaluate presynaptic dopaminergic integrity of the putamen in members of the family originally reported by Wszolek et al. (1995), Nandhagopal et al. (2008) found that 2 asymptomatic LRRK2 mutation carriers had progressive dopaminergic dysfunction affecting transport and uptake compared to 2 family members without the mutation over a 2- to 3-year span. One of the asymptomatic mutation carriers developed subtle clinical manifestations of PD by the time of the second scan. The findings suggested that PET abnormalities are present in asymptomatic carriers early in the illness.
Paisan-Ruiz et al. (2004) reported 4 families from the Basque region of Spain and 1 family from the United Kingdom with autosomal dominant Parkinson disease. Mean age at onset was 65 years, followed by a benign course with excellent response to low doses of L-DOPA. The majority of patients presented with unilateral leg or hand tremor. No cognitive decline was noted in any of the patients even after long disease duration. Paisan-Ruiz et al. (2005) reported that PET scan of 1 of the Basque patients showed nigrostriatal dysfunction with a typical pattern of idiopathic presynaptic Parkinson disease.
### Pathologic Findings
The neuropathologic findings in patients with LRRK2 mutations are pleomorphic. The most common findings include classic alpha-synuclein (SNCA; 163890)- positive Lewy bodies and Lewy neurites, but these are not always present. Other less common findings include tau (MAPT; 157140)- and ubiquitin (UBB; 191339)-immunoreactive inclusions (Zimprich et al., 2004; Giasson et al., 2006; Ross et al., 2006).
Giasson et al. (2006) reported detailed neuropathologic findings of 3 patients with PARK8 who carried the common LRRK2 G2019S mutation (609007.0006). All showed extensive loss of pigmented neurons in the substantia nigra and locus ceruleus. Classic Lewy bodies were identified in 2 patients, 1 of whom also showed senile plaques and neurofibrillary tangles consistent with Alzheimer disease (104300), which may be have been part of normal aging. The third patient, who did not show Lewy bodies, uniquely demonstrated dystrophic neurons in the substantia nigra that stained intensely for LRRK2. Similar LRRK2 inclusions were not observed in analysis of more than 40 other brains with diverse neurodegenerative diseases.
Ross et al. (2006) reported neuropathologic findings of 8 patients with PD or Lewy body disease who carried the LRRK2 G2019S mutation. All had classic Lewy bodies with a range of distribution from the brainstem to diffuse regions of the brain, but there was no apparent correlation between Lewy body pathology and disease progression. Three patients had a family history of PD. Four patients had autonomic dysfunction, 2 had dementia with Lewy bodies, and 1 had dementia with Alzheimer disease. One healthy control individual with the G2019S mutation who died at age 68 years had no significant neuropathologic findings, consistent with reduced penetrance; another control with the G2019S mutation had concomitant Alzheimer disease.
By postmortem examination of a man with PD who carried the G2019S mutation, Rajput et al. (2006) found a medial temporal tauopathy and Alzheimer-type pathology with cortical amyloid deposits and neurofibrillary deposits in multiple deep brain regions. Lewy bodies were not observed, and there was not significant neuronal loss outside of the substantia nigra. Coimmunoprecipitation studies showed no evidence of a direct interaction between LRRK2 and MAPT.
Using antibodies to LRRK2 epitopes located outside the folded domains of the protein, Zhu et al. (2006) found LRRK2 immunoreactivity within Lewy bodies of patients with sporadic PD. The findings suggested that LRRK2 is a component of Lewy bodies. However, Covy et al. (2006) concluded that LRRK2 is not present in Lewy bodies, based on their studies of various LRRK2 antibodies. Covy et al. (2006) suggested that cross-reactivity with other proteins may occur.
### Clinical Variability
In a series of 434 cases of various neurodegenerative disorders, Chen-Plotkin et al. (2008) identified 2 unrelated patients with a clinical diagnosis of corticobasal degeneration and primary progressive aphasia, respectively, who were found to have heterozygous mutations in the LRRK2 gene. These diagnoses fall within the broad clinical category of frontotemporal dementia (FTD; 600274). The first patient, who carried the common G2019S mutation, developed difficulties in planning, organization, and memory at age 52 years. The disorder was progressive, and she later developed apraxia and extrapyramidal features including increased tone and shuffling gait. She never developed tremor. The second patient, who had a preexisting seizure disorder, presented at age 66 years with progressive speech difficulties that developed into expressive aphasia, and cognitive impairment. She had intention tremor and mild flattening of the right nasolabial fold. Brain MRI showed cortical atrophy of the left temporal lobe. Chen-Plotkin et al. (2008) concluded that the LRRK2-associated neurodegenerative phenotype may be more heterogeneous than previously assumed.
Pathogenesis
Gehrke et al. (2010) found that LRRK2 interacted with the microRNA (miRNA) pathway to regulate protein synthesis. They showed that mRNAs for Drosophila E2f1 (189971) and Dp (TFDP1; 189902), which had previously been implicated in cell cycle and survival control (Girling et al., 1993), were translationally repressed by the miRNAs Let7 (MIRLET7A1; 605386) and miR184* (613146), respectively. Pathogenic human LRRK2 antagonized Let7 and miR184*, leading to overproduction of E2f1 and Dp, which was critical for LRRK2 pathogenesis. In Drosophila, genetic deletion of Let7, antagomir-mediated blockage of Let7 and miR184* action, transgenic expression of Dp target protector, or replacement of endogenous Dp with a Dp transgene nonresponsive to Let7 each had toxic effects similar to those of pathogenic LRRK2. Conversely, increasing the level of Let7 or miR184* attenuated pathogenic LRRK2 effects. Human LRRK2 associated with Drosophila Argonaute-1 (EIF2C1, or AGO1; 606228) or human Argonaute-2 (EIF2C2, or AGO2; 606229) of the RNA-induced silencing complex (RISC). In aged fly brain, Ago1 protein level was negatively regulated by human LRRK2. Furthermore, pathogenic LRRK2 promoted the association of phosphorylated 4EBP1 (EIF4EPB1; 602223) with human AGO2. Gehrke et al. (2010) concluded that deregulated synthesis of E2F1 and DP caused by miRNA pathway impairment is a key event in LRRK2 pathogenesis, suggesting that novel miRNA-based therapeutic strategies may be useful for Parkinson disease.
Other Features
Silveira-Moriyama et al. (2008) found that 19 patients with PARK8 and the common G2019S mutation (609007.0006) scored lower on a test of smell, indicating decreased olfactory function and hyposmia, compared to controls or to 2 asymptomatic G2019S carriers. Postmortem examination of the rhinencephalon in 4 PARK8 patients, only 1 of whom had been clinically tested and had hyposmia, showed alpha-synuclein accumulation in olfactory pathways. The authors commented that hyposmia has been reported in up to 80% of patients with Parkinson disease.
Saunders-Pullman et al. (2011) examined olfaction in 31 individuals with G2019S-related PD, 30 with non-LRRK2 PD, 28 nonmanifesting G2019S carriers, and 46 controls. The mean score of all those with PD reflected impaired olfaction compared to controls, although G2019S-related PD patients had less severe impairment compared to non-LRRK2 PD patients. Nonmanifesting LRRK2 mutation carriers had subtle olfactory impairment that was less severe than that in manifesting mutation carriers. However, the study could not determine if the subtle olfactory deficit in nonmanifesting disease carriers could predict future development of motor symptoms, and the authors suggested that longitudinal studies were warranted.
Marras et al. (2011) examined the clinical features of 112 individuals from 15 families with the G2019S mutation, including 25 PD-manifesting mutation carriers and 29 nonmanifesting mutation carriers (54 mutation carriers total). Among the manifesting carriers, tremor was the most commonly recognized initial symptom, and tremor, postural instability, and gait disorders were most common even in early disease. Olfaction was abnormal only in 2 of 7 with short disease duration, but was abnormal in 8 of 10 with long disease duration. Eleven of 19 manifesting patients tested showed impaired color discrimination. Compared to 84 individuals with idiopathic PD, G2019S PD patients had better olfactory sense, worse depression scores, worse color discrimination, more common tremor at presentation and gait dysfunction, and slightly better motor scores earlier in disease duration. However, the phenotypes were largely overlapping. Nonmanifesting mutation carriers had an increased frequency of tremor (31%) compared to noncarriers (12%) and to unrelated controls (13%). Nonmanifesting mutation carriers had increased constipation (12%) compared to controls (2%), as well as worse color discrimination compared to controls.
Aasly et al. (2012) studied 26 patients with LRRK2 mutations, including 18 asymptomatic carriers and 8 patients at an early stage of PD. Symptomatic patients had reduced CSF levels of beta-amyloid-42 (APP; 104760), total tau (MAPT; 157140), and phosphorylated tau compared to asymptomatic mutation carriers. PET scan for 3 markers of dopaminergic function in the striatum showed significantly reduced values for all 3 markers in all symptomatic mutation carriers, whereas only 4 asymptomatic mutations carriers had reduction of all 3 tracers studied. There was a trend towards a correlation between decreased striatal dopaminergic function and reduced CSF beta-amyloid-42 and tau levels, with significant values only for beta-amyloid-42 and fluorodopa uptake. When cases were restricted to those with the G2019S mutation, significant correlations were also observed for tau. The findings suggested a link between beta-amyloid and tau deposition and the pathogenesis of LRRK2-related PD. However, Aasly et al. (2012) noted that this was an exploratory study, that the data should be interpreted with caution, and that the results need to be replicated.
In a cross-sectional study of 490 Jewish patients with PD, Inzelberg et al. (2012) found that 79 (16.1%) carried the common G2019S mutation. Eighteen (23%) G2019S mutation carriers had a non-skin cancer compared to 49 (12%) nonmutation carriers (odds ratio = 2.18). A significant ethnicity effect was noted for those of Ashkenazi Jewish ancestry: the age-adjusted odds ratio for the development of non-skin cancer among Ashkenazi Jewish carriers of the G2019S mutation was 3.38. The most common cancer was breast, which accounted for 15% of the cancer types. The LRRK2 G2019S causes a gain of function for the kinase, which could potentially play a role in tumorigenesis. However, Bandmann and Cookson (2012) noted that the study showed an association between G2019S and non-skin cancer, but did not prove causation.
Mapping
Funayama et al. (2002) performed a genomewide linkage analysis in the family reported by Hasegawa and Kowa (1997). Allele typing was performed for 31 individuals from 4 generations. Parametric 2-point linkage analysis yielded a maximum lod score of 4.32 at D12S345 (12p11.2). Parametric multipoint linkage analysis of the 13.6-cM interval around this marker yielded lod scores greater than 4.0 at D12S85 (12q12). Haplotype analysis showed 2 recombination events which further defined the candidate region. The haplotype was shared by 15 affected individuals and by 8 unaffected individuals, which raised the possibility of incomplete penetrance. Nonparametric linkage analysis also supported mapping of the parkinsonism locus to 12p11.2-q13.1.
In 21 Caucasian families with Parkinson disease and an inheritance pattern compatible with autosomal dominant transmission, Zimprich et al. (2004) tested for linkage to the PARK8 region. Two families, one a German Canadian family and the other a family from western Nebraska (Wszolek et al., 1995), reached significant linkage on their own, with a combined maximum multipoint lod score of 3.33.
In a genomewide association study and 2 replication studies in a total of 2,011 cases and 18,381 controls from Japan, Satake et al. (2009) found strong association with the LRRK2 gene (609007) on 12q12 (p = 2.72 x 10(-8)), implicated in PARK8. Tan et al. (2010) specifically analyzed 3 SNPs at the PARK8 locus in 433 PD patients and 916 controls, all of Chinese ethnicity, and independently confirmed a significant association with PARK8.
Molecular Genetics
In affected members of 4 Basque families and 1 English family with autosomal dominant PD, Paisan-Ruiz et al. (2004) identified 2 different heterozygous mutations in the LRRK2 gene (609007.0001 and 609007.0002, respectively). The disease showed 100% penetrance.
In affected members of a Nebraskan kindred with autosomal dominant PD originally reported by Wszolek et al. (1995), Zimprich et al. (2004) identified a heterozygous mutation in the LRRK2 gene (609007.0003).
In affected members of 4 of 61 (6.6%) families with autosomal dominant PD, Di Fonzo et al. (2005) identified a heterozygous gly2019-to-ser (G2019S; 609007.0006) mutation in the LRRK2 gene. Two families were from Italy, and 1 each were from Portugal and Brazil. Gilks et al. (2005) identified the G2019S mutation in 8 of 482 (1.6%) unrelated patients with Parkinson disease. Five of the patients had no family history of the disorder, suggesting either a de novo occurrence or reduced penetrance. Nichols et al. (2005) identified the G2019S mutation in 20 of 358 (6%) families with PD. In 1 family, 1 sib was heterozygous for the mutation and another was homozygous; the homozygous individual did not differ in clinical presentation from the sib and did not have early disease onset or more rapid progression. Nichols et al. (2005) suggested genetic screening for the G2019S mutation in patients with familial PD.
In all 19 affected members of the original Japanese family with PARK8 (Hasegawa and Kowa, 1997), Funayama et al. (2005) identified a heterozygous mutation in the LRRK2 gene (609007.0007).
Farrer et al. (2005) identified pathogenic mutations in the LRRK2 gene in 5 (0.6%) of 786 probands with idiopathic Parkinson disease. Four probands carried the common G2019S mutation.
Paisan-Ruiz et al. (2005) identified 2 different LRRK2 mutations in 3 of 23 unrelated probands with autosomal dominant Parkinson disease. Two probands had the common G2019S mutation. In a case-control study of 121 unrelated Parkinson disease patients and 250 controls, Paisan-Ruiz et al. (2005) found no association between PD and any of 4 LRRK2 polymorphisms examined.
Ishihara et al. (2006) found no observable phenotypic differences between 26 patients with Parkinson disease who were homozygous for the G2019S mutation, including 20 patients of Tunisian origin, and reports of patients who were heterozygous for the mutation. In addition, 3 clinically unaffected Tunisian individuals were homozygous for the mutation at ages 42, 45, and 70 years. The findings did not support a gene dosage effect.
Alcalay et al. (2010) identified the G2019S mutation in 35 (3.6%) of 953 patients with early-onset PD before age 51, including 77 and 139 individuals of Hispanic and Jewish ancestry, respectively. Four of the 35 patients had the G2019S mutation and another mutation in the PRKN (PARK2; 602544) or GBA genes (606463).
Genotype/Phenotype Correlations
Alcalay et al. (2009) found that 34 (3.7%) of 925 patients with early-onset PD, defined as age at onset before age 51 years, carried the G2019S mutation. Compared to noncarriers, carriers of the G2019S mutation were more likely to be of Ashkenazi Jewish descent (55.9% vs 11.9%), to have a lower tremor score (p = 0.03), and to have a higher score of postural instability and gait difficulty (PIGD; 92.3% vs 58.9%, p = 0.003). The PIGD phenotype in general is associated with a more severe phenotype and a faster rate of cognitive decline compared to the tremor dominant phenotype, so the findings of this study suggested implications for disease course in G2019S mutation carriers.
Mutations in the LRRK2 gene and the GBA gene commonly predispose to PD in individuals of Ashkenazi Jewish descent. Gan-Or et al. (2010) screened a cohort of 600 Ashkenazi PD patients for the common LRRK2 G2019S mutation and for 8 GBA mutations. Among all patients, 117 (19.5%) were heterozygous for GBA mutations, and 82 (13.7%) were heterozygous for the LRRK2 G2019S mutation, including 8 patients carrying both GBA and LRRK2 mutations. There were 6 (1.0%) homozygotes or compound heterozygotes GBA mutations carriers, and 1 (0.2%) patient homozygote for G2019S. Carriers of LRRK2 G2019S or GBA mutations had a significantly earlier average age at onset (57.5 and 57.5 years) than noncarriers (61.0 years); the 8 with mutations in both genes had a similar average age at onset (57.4 years). A phenotypic comparison of those with the G2019S mutation, GBA mutations, and noncarriers of these mutations showed that more of those with the G2019S mutation reported muscle stiffness/rigidity (p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness/bradykinesia (p = 0.021). However, the most common presenting symptom in both groups was tremor (about 50%). These results suggested distinct effects of LRRK2 or GBA mutations on the initial symptoms of PD in some cases.
Population Genetics
Orr-Urtreger et al. (2007) identified a heterozygous G2019S mutation in 12.3% of 472 Jewish PD patients, and in 14.8% of the 344 patients in this group who were specifically of Ashkenazi Jewish origin. The mutation was also detected in 2.4% of Ashkenazi Jewish controls. A common shared haplotype identified by Lesage et al. (2005) was found in 97% of mutation carriers. None of 42 Jewish patients from Iraq or Morocco carried the G2019S mutation.
Skipper et al. (2005) identified a subset of tagging-SNPs (tSNP) that captured the majority of common variation within the LRRK2. Both single tSNP and tSNP haplotype analyses, using a large epidemiologically-matched sporadic case-control series comprising 932 Chinese individuals, yielded significant evidence for association with Parkinson disease. The authors identified a haplotype that dramatically increased disease risk when present in 2 copies (odds ratio = 5.5; P = 0.0001).
Choi et al. (2008) did not identify the G2019S mutation in 72 unrelated Korean patients with onset of PD before age 50, suggesting that it is not a common cause of PD in this population.
Lesage et al. (2008) identified the G2019S mutation in 7 (41%) of 17 North African patients with familial PD and 40 (34%) of 119 North African patients with sporadic PD. All were heterozygous for the mutation except 3 patients, who were homozygous. One (1.5%) of 66 Algerian controls was homozygous for the mutation, but showed no evidence of disease at age 41 years, which is younger than the average age of disease onset.
Lesage et al. (2009) found 8 potentially or proven pathogenic mutations, including 4 novel mutations, in the LRRK2 gene in 22 (9.7%) of 226 probands with autosomal dominant Parkinson disease, including 182 from France and 14 from North Africa. The common G2019S mutation was identified in 13 (5.8%) probands, including 6 (43%) from North Africa. Heterozygous mutations R1441H (609007.0008) and I1371V were found in 2 probands each. Most of the mutations were located in the functional domains of the LRRK2 protein. Some of the patients had been previously reported.
Animal Model
Liu et al. (2008) found that Drosophila expressing the human LRRK2 G2019S mutation in neuronal cells showed adult-onset loss of dopaminergic neurons, locomotor dysfunction, and early mortality. Overexpression of LRRK2 resulted in a less severe form of parkinsonism. Treatment of mutant flies with L-DOPA improved locomotor impairment but did not prevent loss of dopaminergic cells. Expression of mutant protein in photoreceptor cells resulted in retinal degeneration. The findings provided a gain-of-function animal model for human LRRK2-linked PD.
Lee et al. (2010) presented evidence demonstrating that pharmacologic inhibitors of LRRK2 kinase activity are protective in both in vitro and in vivo mouse models of LRRK2-induced neurodegeneration.
INHERITANCE \- Autosomal dominant HEAD & NECK Nose \- Hyposmia NEUROLOGIC Central Nervous System \- Parkinsonism \- Bradykinesia \- Rigidity \- Resting tremor \- Postural instability \- Cognitive decline (rare) \- Dementia (rare) \- Neuronal loss in the substantia nigra \- Gliosis in the substantia nigra \- Pigmentary loss in the substantia nigra \- Lewy bodies (not always present) \- Neurofibrillary MAPT (tau)-positive tangles \- Favorable response to levodopa \- Secondary motor complications develop in 50% of those on levodopa therapy MISCELLANEOUS \- Onset 50 to 65 years \- Relatively benign course \- Slow progression \- Reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years MOLECULAR BASIS \- Caused by mutation in the leucine-rich repeat kinase 2 gene (LRRK2, 609007.0001 ) ▲ 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
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
c1846862
| 24,902 |
omim
|
https://www.omim.org/entry/607060
| 2019-09-22T16:09:45 |
{"doid": ["0060371"], "omim": ["607060"], "orphanet": ["411602"], "synonyms": ["Autosomal dominant late-onset Parkinson disease", "LOPD"], "genereviews": ["NBK1208", "NBK1223"]}
|
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.
*[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
|
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
|
c3151898
| 24,903 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254864
| 2021-01-23T19:02:16 |
{"omim": ["500009"], "icd-10": ["G71.3"], "synonyms": ["Benign COX deficiency", "Infantile reversible cytochrome C oxidase deficiency myopathy", "Mitochondrial myopathy with reversible COX deficiency", "Mitochondrial myopathy with reversible complex IV deficiency", "Reversible infantile cytochrome C oxidase deficiency", "Reversible infantile respiratory chain deficiency"]}
|
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
## Epidemiology
The prevalence is unknown, but to date approximately 50 families have been reported. The frequency of this disease however, is likely to be underestimated, due to patients with incomplete phenotypes and high level of consanguinity among some populations. It occurs equally in both sexes.
## Clinical description
Onset of GAN ranges from early infancy to late childhood. Clinical hallmarks include progressive gait disturbance (frequent falls due to muscle weakness, sensory neuropathy and ataxia), everted feet, crouched gait, tightly curled hair, and early-onset central nervous system (CNS) involvement, including pyramidal and cerebellar signs that, when present together almost clinch the diagnosis. Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade. Other clinical signs include facial weakness, optic atrophy, ophthalmoplegia, skeletal deformations (e.g. foot deformities, scoliosis) and tremor. Clinically heterogeneous cases, with GAN presenting with a mild Charcot-Marie-Tooth (CMT)-like phenotype or manifesting with a later age of onset, absence of kinky hair, and slower progression, have recently been documented.
## Etiology
GAN is associated with more than 50 different causative mutations in GAN gene (16q24.1), encoding the ubiquitously expressed cytoskeletal protein gigaxonin.
## Diagnostic methods
Diagnosis is based on clinical findings and imaging. Cerebellum abnormalities, demyelination in white matter and glial proliferation in white and gray matter are shown by magnetic resonance imaging. Due to the presence of giant axons in other diseases, peripheral nerve biopsy is not sufficient to diagnose GAN. Genetic molecular testing or immunodetection of gigaxonin confirms diagnosis.
## Differential diagnosis
Differential diagnosis includes CMT-1F, -2E, -4A, -4B, -4C, -4D and -4E, the classic form of infantile neuroaxonal dystrophy, arylsulfatase A deficiency, spinal muscular atrophy, Friedreich ataxia, globoid cell leukodystrophy, n-hexane toxicity, and acrylamide toxicity.
## Antenatal diagnosis
Prenatal diagnosis is possible in families with a known disease-causing mutation.
## Genetic counseling
GAN is inherited as an autosomal recessive trait. Parents of an affected child are obligate heterozygotes and asymptomatic. Genetic counseling can inform parents that the risk of having an affected child is 25%. Carrier testing requires the GAN pathogenic variant to have been identified in an affected member of the family.
## Management and treatment
Treatment is symptomatic, focusing on stimulating intellectual and physical development, as well as communication skills, through physical, occupational and speech therapy, since the initiation of symptoms. Skeletal deformities and ophthalmoplegia may need surgery. Intrathecal administration of an AAV9-based gene therapy to restore GAN expression is currently being explored.
## Prognosis
The prognosis varies but is usually poor. Most patients become wheelchair-dependent in the second decade of life and eventually progress to a bedridden state in early adulthood. Secondary complications, such as respiratory failure, may occur. Life expectancy does not exceed the third decade. Lack of curly hair is correlated with milder disease and slower disease progression, which would suggest a less stark prognosis.
*[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
|
Giant axonal neuropathy
|
c1850386
| 24,904 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=643
| 2021-01-23T19:04:05 |
{"gard": ["6500"], "mesh": ["D056768"], "omim": ["256850"], "icd-10": ["G60.8"], "synonyms": ["GAN"]}
|
Floppy trunk syndrome (abbreviated FTS, also known as flaccid trunk paralysis) is a condition that causes trunk paralysis in African bush elephants. Initially observed in 1989, the syndrome primarily affected bull elephants in several select regions in Zimbabwe. Afflicted elephants exhibit paralysis in their trunk, often having to adapt to feed. The loss of their trunks' prehensile abilities results in malnutrition and possibly death. The condition is a result of degeneration of nerves in the trunk, and is suggested to be a result of either heavy metals or toxins. There is debate over whether the condition is reversible.
## Contents
* 1 History
* 2 Signs and symptoms
* 3 Scope
* 4 Possible causes
* 5 Treatment
* 6 References
## History[edit]
Floppy trunk syndrome was initially observed in 1989 on Fothergill Island, in Matusadona National Park, Zimbabwe, near Lake Kariba.[1] Five more cases were observed in the same location around a year later, and several more cases were observed in July and August 1992. Several elephants suffering from the condition were surgically biopsied while paralyzed in May 1989, and a necropsy of affected elephants was performed in November 1991 and April 1992.[2]
## Signs and symptoms[edit]
Elephants with floppy trunk syndrome typically initially exhibit a loss of their trunk's prehensile abilities. The paralysis has been observed to start at the tip and work its way upward over the course of several months. As their trunks become increasingly paralyzed, elephants have difficulty feeding and learn to use their front feet or throw their trunk over branches to aid feeding. To avoid stomping on their trunk while walking, an elephant afflicted with the condition would fling their trunk over their tusks. In later stages of paralysis, affected elephants needed to submerge themselves partially in water to drink.[2] However, despite these learned adaptations, affected elephants were observed as emaciated, suffering from muscle atrophy and a lack of visceral fat. Untreated, this handicap could result in starvation.[3]
## Scope[edit]
FTS has been observed in the northwest of Zimbabwe,[4] the Satara area of Kruger National Park, and Fothergill in Lake Kariba. The syndrome has only been observed in free-ranging elephants specifically Loxodonta africana, and primarily affects older male elephants.[3][5] Over thirty elephants were observed to be afflicted with this paralysis, including at least eight in Kruger National Park and twelve cases near Fothergill Island.[3] In Gonarezhou National Park in south eastern Zimbabwe, several cases of FTS have been reported since 2013 (approximately half a dozen individuals) all of which were elephant bulls.
## Possible causes[edit]
The paralysis is caused by degeneration of peripheral nerves, which begins at the tip of the trunk.[4]
A comparison of areas affected by FTS and unaffected areas suggests three plant species may be the cause: Heliotropium, specifically Heliotropium ovalifolium, Indigofera, and Boerhavia.[3] Native to Nigeria, Heliotropium ovalifolium is known to be poisonous and has been cited to cause diarrhea and bleeding in humans.[6] It is theorized that elephants are being forced to consume toxic vegetation due to changes in weather patterns and to the natural ecology of their habitats.[7] Several cases were observed when drought conditions enabled elephants to access grasslands adjacent to Fothergill Island.[3]
Lead poisoning has also been suggested as a cause. The degeneration of nerves found in afflicted elephants mirrors the effect of lead intoxication in humans and horses. Additionally, potentially mitigating factors of lead poisoning, such as dietary selenium, are deficient in Zimbabwe.[2]
## Treatment[edit]
There is no known treatment for FTS, as the cause is not yet known. There are conflicting reports on whether the paralysis is reversible; some sources claim that moving an elephant away from the area in which it contracted the condition will allow it to recover,[5] while others claim that damage to the trunk is irreversible.[3]
In some extreme cases, wildlife managers have had to euthanise affected elephants.[3]
## References[edit]
1. ^ "Bangladesh Vs Zimbabwe Live Match". onlinetheater.info.
2. ^ a b c Kock, ND; SA Goedegebuure; EP Lane; V Lucke; D Tyrrell; MD Kock (1994). "Flaccid trunk paralysis in free-ranging elephants (Loxodonta africana) in Zimbabwe" (PDF). Journal of Wildlife Diseases. 30 (3): 432–435. doi:10.7589/0090-3558-30.3.432. PMID 7933290. S2CID 85104902.
3. ^ a b c d e f g Fowler, Murray; Mikota, Susan (September 2006). Murray E. Fowler, Susan K. Mikota (ed.). Biology, Medicine, and Surgery of Elephants. Wiley, John & Sons, Incorporated. pp. 67, 396, 441. ISBN 978-0-8138-0676-1.
4. ^ a b Cole, Mary (14 November 1992). "Lead in lake blamed for floppy trunks". New Scientist. Retrieved 2009-06-25.
5. ^ a b Firestone, Matthew (2009). Watching wildlife: Southern Africa : South Africa, Namibia, Botswana, Zimbabwe, Malawi, Zambia. Lonely Planet. ISBN 978-1-7410-4210-8. Retrieved 26 June 2012.
6. ^ Schmelzer, G. H (2008). Medicinal plants. Plant Resources of Tropical Africa. p. 323. ISBN 978-90-5782-204-9. Retrieved 12 November 2009.
7. ^ JM (May 2000). "Poison clue to wildlife deaths". Geographical. 72 (5): 13.
*[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
|
Floppy trunk syndrome
|
None
| 24,905 |
wikipedia
|
https://en.wikipedia.org/wiki/Floppy_trunk_syndrome
| 2021-01-18T18:47:48 |
{"wikidata": ["Q5460213"]}
|
A number sign (#) is used with this entry because the lethal form of multiple pterygium syndrome (LMPS) is caused by homozygous or compound heterozygous mutation in the CHRNG gene, which encodes the gamma subunit of the acetylcholine receptor (AChR), (100730) on chromosome 2q.
Mutations in this gene can also cause the nonlethal (Escobar) variant of this phenotype (EVMPS; 265000).
Mutations in the CHRNA1 (100690) and CHRND (100720) genes can also result in lethal multiple pterygium syndrome; mutations in these genes can also cause fast- or slow-channel congenital myasthenic syndromes (608930 and 601462, respectively).
Clinical Features
In addition to a lethal multiple pterygium syndrome (Gillin and Pryse-Davies, 1976), Hall (1984) identified 2 other possibly distinct forms: one with spinal fusion and one with congenital bone fusions (van Regemorter et al., 1984). Chen et al. (1984) reported 6 cases. Van Regemorter et al. (1984) documented the lethal multiple pterygium syndrome in 2 spontaneously aborted fetuses from first-cousin parents of Moroccan origin. They had had 3 additional pregnancies that resulted in intrauterine death in the first trimester but information on the concepti was not available. Isaacson et al. (1984) reported a case.
Martin et al. (1986) described lethal multiple pterygium syndrome in 3 sib fetuses. They suggested that antenatal diagnosis is possible in most pregnancies after an index case because of cystic hygroma and hydrops. In the term or near-term infant in which ultrasound does not show cystic hygroma or hydrops, Pena-Shokeir syndrome type I (208150) should be considered; pterygia are a component of that disorder but hygroma and hydrops are not. In brother and sister, Robinson et al. (1987) described a lethal type of multiple pterygium syndrome in which malignant hyperthermia was a major complication. They thought this represented a 'newly recognized disorder.' On the basis of autopsy studies in 4 unrelated fetuses with lethal multiple pterygium syndrome, Moerman et al. (1990) suggested that the disorder combines manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence. Generalized amyoplasia appeared to be an important mechanism in the pathogenesis of the fetal akinesia. In 2 of the cases, there was previous birth of a similarly affected fetus.
Clementi et al. (1995) described a family in which 3 fetuses were probably affected, the diagnosis having been missed in the first of these because of misinterpretation of a cystic mass in the neck region, detected by ultrasound at the twentieth gestational week, as a cervical meningocele. The importance of fetal physical examination and supplementary studies to serve as the diagnosis for the sake of appropriate genetic counseling was emphasized.
Meyer-Cohen et al. (1999) raised the question of the existence of an X-linked recessive type of lethal multiple pterygium syndrome (see 312150). They described 4 affected male fetuses in a family with nonconsanguineous parents. A review of the literature since the report by Gillin and Pryse-Davies (1976) uncovered a total of 43 fetuses with lethal multiple pterygium syndrome in 27 families. Of these cases, 24 fetuses were male and 19 were female. Thirteen of the 27 families had affected males only, including 5 with multiple affected males. Their report represented the sixth such family. The only family with reasonably clear X-linked prenatal lethal multiple pterygium syndrome was that reported by Tolmie et al. (1987).
Molecular Genetics
Hoffmann et al. (2006) and Morgan et al. (2006) found mutations in the CHRNG gene (e.g., 100730.0002) causing the lethal form of multiple pterygium syndrome.
Michalk et al. (2008) found mutations in the CHRNA1 (e.g., 100690.0013) and CHRND (e.g., 100720.0005) genes that caused lethal multiple pterygium syndrome.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation HEAD & NECK Face \- Dysmorphic facies \- Micrognathia Ears \- Low-set ears Eyes \- Epicanthal folds \- Hypertelorism Nose \- Flat nose Mouth \- Cleft lip/palate \- Cleft palate Neck \- Cystic hygroma \- Jugular lymphatic obstruction sequence CARDIOVASCULAR Heart \- Hypoplastic heart RESPIRATORY Lung \- Hypoplastic lungs CHEST Ribs Sternum Clavicles & Scapulae \- Thin ribs SKELETAL \- Fractures \- Congenital bone fusions Spine \- Abnormal cervical curvature \- Spinal fusion Limbs \- Joint dislocations \- Flexion contractures Hands \- Microbrachydactyly SKIN, NAILS, & HAIR Skin \- Multiple pterygia MUSCLE, SOFT TISSUES \- Generalized amyoplasia NEUROLOGIC Central Nervous System \- Early severe fetal akinesia sequence METABOLIC FEATURES \- Malignant hyperthermia PRENATAL MANIFESTATIONS \- Hydrops Amniotic Fluid \- Polyhydramnios MISCELLANEOUS \- Lethal MOLECULAR BASIS \- Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle gene (CHRNA1, 100690.0013 ) \- Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0005 ) \- Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0002 ) ▲ 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
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
c1854678
| 24,906 |
omim
|
https://www.omim.org/entry/253290
| 2019-09-22T16:24:51 |
{"doid": ["0080110"], "mesh": ["C537377"], "omim": ["253290"], "orphanet": ["33108"], "synonyms": ["Alternative titles", "PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE"]}
|
Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.
## Epidemiology
The annual incidence is around 1/100 000 in Western countries. Incidence is higher in the Chinese and Tunisian populations. Although rare, NPC accounts for about one third of childhood nasopharyngeal neoplasms.
## Clinical description
Three subtypes of NPC are recognized in the World Health Organization (WHO) classification: 1) squamous cell carcinoma, typically found in the older adult population; 2) non-keratinizing carcinoma; 3) undifferentiated carcinoma. The tumor can extend within or out of the nasopharynx to the other lateral wall and/or posterosuperiorly to the base of the skull or the palate, nasal cavity or oropharynx. It then typically metastases to cervical lymph nodes. Cervical lymphadenopathy is the initial presentation in many patients, and the diagnosis of NPC is often made by lymph node biopsy. Symptoms related to the primary tumor include trismus, pain, otitis media, nasal regurgitation due to paresis of the soft palate, hearing loss and cranial nerve palsies. Larger growths may produce nasal obstruction or bleeding and a 'nasal twang'.
## Etiology
Etiological factors include Epstein-Barr virus (EBV), genetic susceptibility and consumption of food with possible carcinogens - volatile nitrosamines.
## Diagnostic methods
Diagnostic methods include indirect nasopharyngoscopy to assess the primary tumor, clinical evaluation of the size of cervical lymph nodes and biopsy of either the lymph nodes or primary tumor for histological examination. Other potential sites of metastasis are further investigated by neurological examination of cranial nerves, computed tomography (CT)/magnetic resonance imaging (MRI) scan of the head and neck, chest radiotherapy and bone scintigraphy. EBV viral capsid antigen and EBV DNA can be detected by serum analysis.
## Management and treatment
The recommended treatment schedule consists of three courses of neoadjuvant chemotherapy, irradiation, and adjuvant interferon (IFN)-beta therapy.
## Prognosis
Presentation with lymphadenopathy implies that the disease has spread beyond the primary site. However, in childhood, the presence of metastatic disease in cervical lymph nodes at diagnosis does not adversely affect prognosis. Factors associated with a poor prognosis are skull base involvement, extent of the primary tumor and cranial nerve involvement.
*[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
|
Nasopharyngeal carcinoma
|
c0238301
| 24,907 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=150
| 2021-01-23T18:24:08 |
{"gard": ["7163"], "mesh": ["C538339", "D009303"], "omim": ["161550", "607107", "617075"], "umls": ["C0153392", "C0238301", "C2931822"], "icd-10": ["C11.0", "C11.1", "C11.2", "C11.3"], "synonyms": ["Squamous cell carcinoma of the nasopharynx"]}
|
## Summary
### Clinical characteristics.
Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, precedes the onset of ataxia in about two thirds of affected individuals, sometimes by a number of years. Hypermetric horizontal saccades (without nystagmus or disturbance of vestibulo-ocular reflex gain) are seen in about half of affected persons. Although minor pyramidal signs (brisk knee jerks, crossed adductor spread) may be seen, spasticity and extensor plantar responses are not. Cognition is normal. Clinical information is based on the findings in 16 personally examined affected members of a single Australian family of Anglo-Celtic descent.
### Diagnosis/testing.
The diagnosis of SCA20 is based on clinical findings and neuroimaging. Within five years of disease onset CT scan shows pronounced dentate calcification, typically without concomitant pallidal calcification. In addition to evidence of dentate calcification, MRI shows mild-to-moderate pan cerebellar atrophy and normal cerebrum and brain stem (except for increased inferior olivary T2 signal in those with palatal tremor). The locus for SCA20 lies within the pericentromeric region of chromosome 11; the gene is unknown. A 260-kb duplication of 11q12.2-11q12.3 has been proposed as the probable cause of SCA20 in the index family.
### Management.
Treatment of manifestations: Physical and occupational therapy; guidance from a speech pathologist expert in the management of neurogenic dysphagia.
Prevention of secondary complications: Prevention of falls by using appropriate gait aids and home modifications; personal alarm system.
### Genetic counseling.
SCA20 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant.
## Diagnosis
### Suggestive Findings
Spinocerebellar ataxia type 20 (SCA20) should be considered in individuals with a slowly progressive ataxia without sensory features who have the following findings:
* Onset with dysarthria (rather than with gait ataxia) that may be abrupt in onset (seen in ~66%)
* Palatal tremor (in ~66%)
* Family history consistent with autosomal dominant inheritance
Additional findings may include the following:
* Hypermetric horizontal saccades (without nystagmus or disturbance of vestibuloocular reflex gain) in about half
* Mild hyperreflexia (typically without spasticity or extensor plantar responses) in a minority
* Postural tremor of arms with or without involvement of the head (seen in a minority; may be the first symptom)
Neuroimaging
* CT scan (Figure 1) shows pronounced dentate calcification, typically without concomitant pallidal calcification, at an early stage of the illness (≤3 years from onset).
* MRI (Figure 2) shows mild-to-moderate pan cerebellar atrophy, with low dentate signal on T1\- and T2-weighted sequences (consistent with calcification) and normal cerebrum and brain stem (apart from increased inferior olivary T2 signal in some, as a correlate of palatal tremor).
#### Figure 1
III:12. CT scan showing heavy dentate calcification and pan cerebellar atrophy in an individual age 62 years with mild ataxia, three years after symptom onset III:16. CT scan slices at two levels of the dentate showing heavy dentate calcification and (more...)
#### Figure 2.
MRI axial proton density images showing (a) inferior olivary hypertrophy and (b) low dentate signal consistent with dentate calcification in an individual age 54 years; 16 years after onset Note: Roman:arabic numeral combinations refer to pedigree numbers (more...)
Neurophysiology. Nerve conduction studies are normal.
Laboratory features. Indices of calcium metabolism (serum concentrations of calcium, phosphate, magnesium, alkaline phosphatase, parathyroid hormone, 25-hydroxy vitamin D) are normal.
### Establishing the Diagnosis
The diagnosis of SCA20 is established in a proband with the above Suggestive Findings and the following characteristic radiographic features:
* Brain CT. Pronounced dentate calcification, typically without concomitant pallidal calcification
* Brain MRI. Mild-to-moderate pan cerebellar atrophy and normal cerebrum and brain stem (except for increased inferior olivary T2 signal in those with palatal tremor)
Note: The candidate region for SCA20 lies within the pericentromeric region of chromosome 11, encompassing chr11:44,045,910-69,634,192 (loci D11S903-FGF3). Although the candidate region includes SPTBN2 (pathogenic variants in which are responsible for SCA5), SPTBN2 pathogenic variants were excluded as the cause of SCA20 [Lorenzo et al 2006]. Knight et al [2008] reported a 260-kb heterozygous duplication within the candidate region, at 11q12.2-11q12.3 (chr11:61,453,940-61,746,019), cosegregating with SCA20 in the index family. It remains unknown whether this cosegregating duplication contains a locus or loci that are pathogenic in the duplicated state, or the duplication is merely in linkage disequilibrium with a closely linked locus that is the actual basis of the cerebellar phenotype (or whether there is another more complex genetic explanation).
Molecular genetic testing approaches can include a combination of chromosomal microarray analysis or exome array.
Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications that cannot be detected by sequence analysis.
### Table 1.
Genomic Testing Used in Spinocerebellar Ataxia Type 20
View in own window
Duplication 1MethodProportion of Probands with a Pathogenic Variant Detectable by Method
Heterozygous duplication at 11q12.2-11q12.3 2CMA 3100%
Targeted duplication analysis 4100%
1\.
See Molecular Genetics for details of the duplication and genes of interest in the region.
2\.
For this GeneReview, the 11q12.2-11q12.3 recurrent duplication, observed in all reported individuals with SCA20, is defined as a 260-kb duplication at the 11q12 region of chromosome 11.
3\.
Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 11q12.2-11q12.3 region.
4\.
Targeted duplication analysis methods can include FISH, quantitative PCR (qPCR), and multiplex ligation-dependent probe amplification (MLPA), as well as other targeted quantitative methods.
## Clinical Characteristics
### Clinical Description
Clinical information on spinocerebellar ataxia type 20 (SCA20) is based on the index pedigree, an Australian family of Anglo-Celtic descent that is the only family with SCA20 reported to date [Knight et al 2004, Storey et al 2005, Storey & Gardner 2012].
The 16 affected family members had onset between age 19 and 64 years (mean 47).
SCA20 presents with dysarthria without ataxia in a majority (10/16); the dysarthria may be of abrupt (2/16) or subacute (1/16) onset. It often combines the clinical appearance of spasmodic adductor dysphonia with cerebellar dysarthria. Other initial symptoms were dysarthria with simultaneous gait ataxia (2/16), gait ataxia alone (2/16), upper-limb kinetic and isometric tremor (1/16), and episodic vertigo (1/16).
Progression of SCA20, as judged by cross-sectional data, appears to be relatively slow; all affected members of this family were able to walk with or without gait aids except one, who became wheelchair dependent after 40 years of symptoms. Another required a feeding gastrostomy after 15 years of symptoms.
The clinical picture usually includes palatal tremor ("myoclonus") without ear click (10/16), although this finding can be subtle. Gaze-evoked nystagmus is unusual (3/16). In two it was impersistent; in another affected individual persistent down-beating nystagmus was evident. Saccades are typically hypermetric into down gaze (10/16) and horizontally (8/16). The vestibulo-ocular reflex gain, as judged by dynamic vs static visual acuity, is normal, correlating with absence of movement-induced oscillopsia. Minor pyramidal signs (brisk knee jerks, crossed adductor spread) are seen in a minority (5/16), but none have spastic tone or extensor plantar responses. Postural and kinetic tremor of the upper limbs, the presenting feature in one individual, was evident in only one other family member. Only one displayed intention tremor (as distinct from dysmetria and dyssynergia) on the finger/nose test.
Other extrapyramidal features (apart from slowing of repetitive movements without movement decay) are absent. None had a history of cognitive decline.
### Penetrance
The penetrance is unknown, as the involved gene has not been identified.
### Anticipation
Only four parent-child pairs could be documented by self-report regarding age of onset, which was younger by an average of 12 years in the offspring. This information is inadequate to confirm or refute anticipation. Large CAG/CTG and ATTCT/AGAAT repeats have been excluded in the region of interest [Knight et al 2004].
### Prevalence
The prevalence of SCA20 is unknown; it is assumed to be very rare, given that no further individuals have been reported since the publication of the original family in 2008.
## Differential Diagnosis
The differential diagnosis of spinocerebellar ataxia type 20 (SCA20) is essentially that of its component features, as the constellation of progressive, dominantly inherited ataxia, early dentate calcification, and (often) palatal tremor is distinctive.
Inherited ataxia. See Hereditary Ataxia Overview.
Dentate calcification appears early in SCA20; it was seen in five affected individuals who had been symptomatic for five years or less.
* While dentate calcification is common in the general population with increasing age, affecting 0.7% of those older than age 65 years in one study [Harrington et al 1981], it rarely occurs in the absence of basal ganglia calcification (as it did in 9/11 individuals in the family with SCA20).
* Hyperparathyroidism and pseudohypoparathyroidism (see Disorders of GNAS Inactivation) with basal ganglia (and dentate) calcification may be dominantly inherited, and can be excluded on biochemical testing.
* Dentatorubral-pallidoluysian atrophy (DRPLA) can include pallidal microcalcification in the Haw River phenotype.
* Dominant "familial idiopathic brain calcification" (see Primary Familial Brain Calcification) has been reported in several families, but basal ganglia calcification dominates, and the clinical presentation includes cognitive decline and parkinsonism rather than ataxia.
Palatal tremor ("myoclonus") may be seen in the following situations, while dentate calcification is not:
* In conjunction with progressive ataxia in sporadic (i.e., not inherited) cases, possibly representing a unique degenerative syndrome [Sperling & Herrmann 1985]
* Rarely, in multiple-system atrophy, cerebellar type
* In early adult-onset Alexander disease, in which bulbar palsy and spastic tetraparesis are also seen. Inheritance is autosomal dominant.
* In a dominant branchial myoclonus syndrome with ataxia (OMIM 113610) [de Yebenes et al 1988], which may be a phenotypic variant of adult-onset Alexander disease
Dysphonia (which is apparent in SCA20 rather than confirmed on formal voice analysis) may also be seen with ataxia and motor neuropathy (OMIM 606183) [Barbieri et al 2001]; this latter syndrome appears to be inherited in an autosomal recessive manner. The presence of motor neuropathy and the absence of dentate calcification and palatal tremor also serve to distinguish this syndrome from SCA20.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 20 (SCA20), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Careful clinical and neurologic evaluation
* Speech assessment
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Affected persons should be followed by a neurologist with consultation from physiatrists and physical and occupational therapists.
Although neither exercise nor physical therapy has been shown to stem the progression of incoordination or muscle weakness, individuals should maintain activity.
Canes and walkers help prevent falls. Modification of the home with such conveniences as grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary.
Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria or dysphonia.
Weighted eating utensils and dressing hooks help maintain a sense of independence.
Weight control is important because obesity can exacerbate difficulties with ambulation and mobility.
When dysphagia becomes troublesome, videofluoroscopic swallow evaluation can identify the consistency of food least likely to trigger aspiration.
### Prevention of Secondary Complications
Secondary complications are unlikely in the early years of the disease.
Later, prevention of falls via appropriate gait aids and home modifications, and (if falls are frequent) a personal alarm system may be required. To limit the likelihood of fractures resulting from falls, bone density should be estimated and osteoporosis treated if present.
Vitamin supplements are recommended, particularly if caloric intake is reduced.
Weight control is important because obesity can exacerbate difficulties with ambulation and mobility.
### Surveillance
The following are appropriate:
* Periodic speech assessment if dysphagia becomes a problem
* Routine follow up with a neurologist about every two years or as needed
### Agents/Circumstances to Avoid
Affected individuals should avoid alcohol as well as medications known to cause nerve damage (e.g., isoniazid).
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
### Other
Tremor-controlling drugs do not work well for cerebellar tremors.
Education for affected individuals and their families is the cornerstone of management.
*[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
|
Spinocerebellar Ataxia Type 20
|
c1837541
| 24,908 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1471/
| 2021-01-18T20:54:36 |
{"mesh": ["C537199"], "synonyms": ["SCA20"]}
|
Onychogryposis
Other namesOnychogryposis or Ram's horn nails[1]
SpecialtyDermatology
Onychogryphosis is a hypertrophy that may produce nails resembling claws or a ram's horn.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Causes[edit]
Onychogryphosis demonstrating the characteristic ram's horn appearance
Ram's horn toenails on a bedridden patient
Onychogryphosis may be caused by trauma or peripheral vascular disease, but most often secondary to self-neglect and failure to cut the nails for extended periods of time.[2]:783–4[3] This condition is most commonly seen in the elderly.
## Diagnosis[edit]
This section is empty. You can help by adding to it. (April 2017)
## Treatment[edit]
Some recommend avulsion of the nail plate with surgical destruction of the nail matrix with phenol or the carbon dioxide laser, if the blood supply is adequate.[2]:783–4[4]:659
## Epidemiology[edit]
Severe congenital onychogryphosis affecting all twenty nailbeds has been recorded in two families who exhibit the dominant allele for a certain gene.[5][6] Congenital onychogryphosis of the fifth toe (the baby, little, pinky or small toe) is fairly common, but asymptomatic and seldom brought to the attention of medical professionals. Rather, it is brought to the attention of manicurists who routinely file the clawed toenail flat.
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Tosti, A; Piraccini, BM (2008). "Chapter 70 – Nail Disorders". In Bolognia, JL; Jorizzo, JL; Rapini, RP (eds.). Dermatology. 1 (2nd ed.). St. Louis: Mosby Elsevier. ISBN 978-1-4160-2999-1.
2. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Ram’s horn nails, Dr Nicola Mumoli (cardiologist) - Department of Internal Medicine, Ospedale Civile Livorno, Livorno, Italy, reported in Medical Journal of Australia, MJA 2011; 195 (4): 202, 15 August 2011, accessed 1 September 2011
4. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
5. ^ Sequeira JH (1923). "Case of Congenital Onychogryphosis". Proc. R. Soc. Med. 16 (Dermatol Sect): 92. PMC 2103814. PMID 19982897.
6. ^ Porteus HB (1954). "A case of onychogryphosis". Br Med J. 2 (4892): 851–2. doi:10.1136/bmj.2.4892.851. PMC 2079501. PMID 13199328.
## External links[edit]
Classification
D
* ICD-10: L60.2
* ICD-9-CM: 703.8
* DiseasesDB: 29441
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
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
|
Onychogryphosis
|
c0263537
| 24,909 |
wikipedia
|
https://en.wikipedia.org/wiki/Onychogryphosis
| 2021-01-18T18:47:52 |
{"icd-9": ["703.8"], "icd-10": ["L60.2"], "wikidata": ["Q2495793"]}
|
A number sign (#) is used with this entry because of evidence that multisystem autoimmune disease with facial dysmorphism (ADMFD) is caused by homozygous mutation in the ITCH gene (606409) on chromosome 20q11.
Clinical Features
Lohr et al. (2010) studied 10 Old Order Amish children from 8 related and consanguineous families with organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver, and gut. Growth was stunted, and 6 of the 10 patients required gastrostomy tube feeding, although only 2 had overt symptoms of malabsorption, due to autoimmune enteropathy and chronic diarrhea. Distinctive craniofacial features included relative macrocephaly with frontal bossing, dolichocephaly, orbital proptosis, flattened midface with a prominent occiput, small chin, and low posteriorly rotated ears. The liver and spleen were typically more than 4 cm below the costal margin. The remainder of the physical examination was significant for global hypotonia and campto- or clinodactyly, and all children were delayed in gross motor skills and cognitive skills. Chronic lung disease was present in 9 of the 10 children, often clinically characterized as asthma and consisting of a cellular, nonspecific interstitial pneumonitis; respiratory failure was the cause of death in all 3 children who were deceased, at 6 months, 1.2 years, and 3 years of age, respectively. Four of the 10 children developed hypothyroidism, and autoantibodies were found in the 3 who were tested; 3 patients had autoimmune hepatitis; and 1 was diagnosed with type 1 diabetes mellitus.
Mapping
Lohr et al. (2010) performed genomewide autozygosity mapping in 5 Old Order Amish patients with syndromic multisystem autoimmune disease and identified a 19-Mb homozygous block in the pericentromeric region of chromosome 20, bounded by rs2038383 and rs2067084 and containing 258 known or hypothetical genes. The authors noted that the prominent autoimmune disease in 1 of the patients was similar to the autoimmune findings in mice null for the candidate gene ITCH (606409).
Molecular Genetics
In 10 Old Order Amish patients with syndromic multisystem autoimmune disease mapping to chromosome 20q11, Lohr et al. (2010) sequenced the candidate gene ITCH and identified homozygosity for a frameshift mutation (606409.0001) in all. None of the 9 heterozygous sibs or parents were symptomatic or dysmorphic.
INHERITANCE \- Autosomal recessive GROWTH Height \- Below 3rd percentile Weight \- Below 3rd percentile HEAD & NECK Head \- Macrocephaly, relative \- Dolichocephaly \- Prominent occiput \- Frontal bossing Face \- Flattened midface \- Small chin Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Proptosis RESPIRATORY Lung \- Pneumonitis, cellular, nonspecific interstitial \- Severe chronic lung disease \- Respiratory failure, fatal (in some patients) ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly Gastrointestinal \- Enteropathy, autoimmune (in some patients) \- Chronic diarrhea (in some patients) SKELETAL Hands \- Camptodactyly \- Clinodactyly NEUROLOGIC Central Nervous System \- Psychomotor delay \- Global hypotonia ENDOCRINE FEATURES \- Hypothyroidism, autoantibody-positive (in some patients) \- Diabetes mellitus, type 1 (rare) MOLECULAR BASIS \- Caused by mutation in the homolog of the mouse itchy gene (ITCH, 606409.0001 ) ▲ 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
|
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
|
c3150649
| 24,910 |
omim
|
https://www.omim.org/entry/613385
| 2019-09-22T15:58:52 |
{"omim": ["613385"], "orphanet": ["228426"], "synonyms": []}
|
Oil acne
SpecialtyDermatology
Oil acne is an occupational skin condition caused by exposure to oils used in industry.[1]
## See also[edit]
* Soot tattoo
* 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: L70.8 (ILDS L70.830)
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
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
|
Oil acne
|
c0856781
| 24,911 |
wikipedia
|
https://en.wikipedia.org/wiki/Oil_acne
| 2021-01-18T19:00:28 |
{"icd-10": ["L70.8"], "wikidata": ["Q7081366"]}
|
## Clinical Features
Shoichet et al. (2003) reported a 7-year-old girl with severe developmental delay who had a de novo balanced chromosome rearrangement, t(X;7)(p11.3;q11.21). At age 2 years, she did not yet walk or speak, and she exhibited clearly delayed psychomotor development. At age 3 years 9 months, occasional convulsions, predominantly localized to the shoulders and upper back, were reported, which led to the diagnosis of myoclonic epilepsy. At age 5 years 6 months, her physical development was in the normal range. She had no dysmorphic features. Screening for inborn errors of metabolism resulted in no indication of amino acidopathies or organic acidurias.
Shoichet et al. (2003) reported 2 male probands with X-linked mental retardation without dysmorphic features or additional neurologic abnormalities. The proband in 1 family had delayed early milestones and at the age of 5 years was functioning at an intellectual level of age 3 years. He exhibited language retardation, avoided social contact, and was hyperactive. Both of the mother's brothers were affected but further clinical data were not available. The proband in the other family reached early milestones within the normal time frame, but exhibited a severe language delay. At age 10 years, he was unable to read, had essentially no acquisition of mathematics skills, and required special education. He had mood disorders, with both hyperactivity and aggressiveness.
History
In a 7-year-old girl with severe mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21), Shoichet et al. (2003) cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with nonsyndromic MRX led to the identification of ZNF41 mutations in affected members of 2 unrelated families (314995.0001-314995.0002).
Piton et al. (2013) found the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server; they also found truncating ZNF41 variants in 1 male and 1 female in that database. Based on these findings, as well as a lack of reported ZNF41 mutations since 2003, Piton et al. (2013) classified the involvement of ZNF41 mutations in mental retardation as highly questionable.
INHERITANCE \- X-linked dominant NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Myoclonic epilepsy (1 patient) \- Language delay LABORATORY ABNORMALITIES \- Translocation (X,7)(p11.3,q11.21) - in some patients MISCELLANEOUS \- Some carrier females have mild features MOLECULAR BASIS \- Caused by mutation in the zinc finger protein 41 gene (ZNF41, 314995.0001 ) ▲ 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
|
MENTAL RETARDATION, X-LINKED 89
|
c2931498
| 24,912 |
omim
|
https://www.omim.org/entry/300848
| 2019-09-22T16:19:27 |
{"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300848"], "orphanet": ["777"]}
|
## Summary
### Clinical characteristics.
7q11.23 duplication syndrome is characterized by distinctive facial features; cardiovascular disease (dilation of the ascending aorta in 46%); neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention deficit hyperactivity disorder (ADHD), oppositional disorders, physical aggression, and autism spectrum disorders (ASD); delayed motor, speech, and social skills in early childhood; and intellectual ability ranging from intellectual disability (~18%) to borderline intellectual ability (~20%) to low average to high average (the remainder). Approximately 30% of individuals with the 7q11.23 duplication have one or more congenital anomalies.
### Diagnosis/testing.
The diagnosis of the 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region (WBSCR).
### Management.
Treatment of manifestations: Aortic dilation is treated with beta blocker therapy and/or surgery as needed. Constipation should be aggressively managed at all ages to prevent encopresis and impaction. Address developmental disabilities, including ASD, through early intervention programs (including speech/language therapy, physical therapy, and occupational therapy), special education programs, and vocational training. Address ASD with applied behavior analytic interventions and other empirically supported psychosocial approaches. Address childhood apraxia of speech (CAS) or manifestations of this disorder with intensive speech/language therapy to maximize effective oral communication and prevent or limit later language impairment and/or reading disorder. Address emotional and behavioral disorders (aggression, social anxiety, selective mutism) with cognitive-behavioral therapy, applied behavior analysis behavior modification intervention, and psychotropic medications as needed.
Surveillance: Routine monitoring of head circumference in infancy. Annual monitoring of aortic diameter (including Z scores in children) and behavior. Annual assessment by occupational and physical therapists and speech and language pathologists until age six years.
### Genetic counseling.
The 7q11.23 duplication syndrome is transmitted in an autosomal dominant manner. About 27% of probands have an affected parent. When a parent has the 7q11.23 duplication, the risk to each sib of inheriting the duplication is 50%. If the 7q11.23 duplication identified in the proband is not identified in the parents, the risk to sibs is low (<1%) but greater than that of the general population because of the possibility of parental germline mosaicism for the duplication. Prenatal testing for pregnancies at increased risk is possible using genomic testing that will detect the 7q11.23 duplication; however, it is not possible to reliably predict the phenotype based on the results of such testing.
## Diagnosis
The 7q11.23 duplication syndrome phenotype is variable, and no single clinical feature is required to establish the diagnosis. No formal diagnostic criteria have been published.
### Suggestive Findings
The 7q11.23 duplication syndrome is suspected in individuals with the following findings:
* Distinctive craniofacies. Macrocephaly, brachycephaly, broad forehead, straight eyebrows, deep-set eyes, long eyelashes, broad nasal tip, low insertion of the columella, short philtrum, thin vermilion of the upper lip, high-arched palate, and minor ear anomalies (overfolded helix, lateral protrusion) are observed at all ages (Figure 1). Facial asymmetry and low-hanging columella become more evident/are more common in older children and adults (Figure 2).
* Cardiovascular disease. Dilation of the ascending aorta, found in 46% of individuals with the 7q11.23 duplication syndrome, has been reported at all ages and may be progressive [Morris et al 2015].
* Growth abnormalities
* Macrocephaly is present in 50% of affected individuals.
* Although linear growth is in the normal range for most individuals; about 17% (half of whom have growth hormone deficiency) have short stature.
* Neurologic abnormalities include hypotonia, adventitious movements, and abnormalities of gait and station. Children typically have developmental coordination disorder. Abnormalities found on brain MRI include ventriculomegaly, decreased white matter volume, and cerebellar vermis hypoplasia. Seizures are present in 19%.
* Speech sound disorder. Almost all young children have speech delay or disorder. Childhood apraxia of speech or manifestations of this disorder are common. Dysarthria or manifestations of dysarthria, primarily resulting from low muscle tone, are fairly common.
* Behavior problems include anxiety disorders (>50%), selective mutism (29%), attention deficient hyperactivity disorder (ADHD) (35%), oppositional disorders (25%), and physical aggression. Autism spectrum disorders (ASD) are present in ~20% based on gold-standard assessment (i.e., Autism Diagnostic Observation Schedule-2 [ADOS-2] [Lord et al 2012] and Autism Diagnostic Interview-Revised [ADI-R] [Lord et al 1994], plus clinical judgment).
* Developmental delay. Most individuals have delayed motor, speech, and social skills in early childhood. Expressive language is usually more delayed than receptive language. Although the majority of school age children have intellectual ability in the low average to average range and a few children score even higher, about 20% have borderline intellectual ability and about 18% have intellectual disability.
#### Figure 1.
Children with classic 7q11.23 duplication syndrome Top row: age 1 year, age 2 years, age 2 years, age 2 years, age 4 years.
#### Figure 2.
Adolescents and adults with classic 7q11.23 duplication syndrome Top row: Age 12 years (front and profile), age 14 years, age 21 years.
### Establishing the Diagnosis
The diagnosis of the 7q11.23 duplication syndrome is established by detection of a 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region (WBSCR) (Table 1).
For this GeneReview, the 7q11.23 duplication syndrome is defined as the presence of a recurrent 1.5- to 1.8-Mb duplication at the approximate position of chr7:72,744,454-74,142,513 in the reference genome (NCBI Build hg19).
Note: The phenotype of significantly larger or smaller duplication within this region may be clinically distinct from the 7q11.23 duplication syndrome (see Genotype-Phenotype Correlations).
Although several genes of interest are within the 1.5- to 1.8-Mb recurrent microduplication, no single gene has been definitively identified as causing individual clinical features (see Molecular Genetics for genes of interest in this region).
Genomic testing methods that determine the copy number of sequences can include chromosomal microarray (CMA) or targeted duplication analysis by fluorescence in situ hybridization (FISH). Note: The 7q11.23 duplication cannot be identified by routine analysis of G-banded chromosomes or other conventional cytogenetic banding techniques.
Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can detect the recurrent duplication in a proband. The ability to size the duplication depends on the type of microarray used and the density of probes in the 7q11.23 region.
Note: (1) Most individuals with the 7q11.23 duplication syndrome are identified by CMA performed in the context of evaluation of developmental delay, intellectual disability, and/or autism spectrum disorders. (2) This microduplication can be detected by BAC arrays.
Targeted duplication analysis. FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA), or other targeted quantitative methods may be used to test relatives of a proband known to have the 7q11.23 duplication.
Note: (1) Targeted duplication testing is not appropriate for an individual in whom the 7q11.23 duplication was not detected by CMA designed to target this region. (2) It is not possible to size the duplication routinely by use of targeted methods.
### Table 1.
Molecular Genetic Testing Used in 7q11.23 Duplication Syndrome
View in own window
Duplication 1ClinGen ID 2Region
Location 3, 4Test MethodTest Sensitivity
ProbandAt-risk family members
1.5- to 1.8-Mb heterozygous duplication at 7q11.23ClinGen-37392GRCh37/hg19 chr7:72,744,454-74,142,513CMA 5100%100%
Targeted duplication analysis 6N/A 7100% 8
1\.
See Molecular Genetics for details of the duplication.
2\.
Standardized clinical annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays (ISCA) Consortium)
3\.
Genomic coordinates represent the minimum duplication size associated with the 7q11.23 duplication as designated by ClinGen. Duplication coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the microduplication as calculated from these genomic positions may differ from the expected microduplication size due to the presence of segmental duplications near breakpoints. The phenotype of significantly larger or smaller microduplications within this region may be clinically distinct from the 7q11.23 duplication (see Genotype/Phenotype Correlations).
4\.
See Molecular Genetics for genes of interest included in this region.
5\.
Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP genotyping arrays. CMA designs in current clinical use target the 7q11.23 region.
6\.
Targeted duplication analysis methods can include: FISH, quantitative PCR (qPCR), and multiplex ligation-dependent probe amplification (MLPA) as well as other targeted quantitative methods.
7\.
Not applicable. Targeted duplication analysis is not appropriate for an individual in whom the 7q11.23 duplication was not detected by CMA designed to target this region.
8\.
Targeted duplication analysis may be used to test at-risk relatives of a proband known to have the 7q11.23 duplication.
Evaluating at-risk relatives. FISH, qPCR, or other quantitative methods of targeted duplication analysis can be used to identify the 7q11.23 duplication in at-risk relatives of the proband. Testing parental samples is important in determining recurrence risk (see Genetic Counseling).
## Clinical Characteristics
### Clinical Description
Infancy. Median birth weight is at the 75th centile, median birth length is at the 80th centile, and median head circumference is at the 75th centile (30% of newborns have an OFC ≥95th centile). Infants with the 7q11.23 duplication syndrome are hypotonic and may have joint laxity, resulting in delayed attainment of motor milestones. Median age of walking is 1.33 years [Morris et al 2015].
Approximately 30% of individuals with the 7q11.23 duplication syndrome have one or more congenital anomalies. Congenital malformations that have been reported in more than one individual include cleft lip and/or palate, congenital heart disease, diaphragmatic hernia, unilateral renal agenesis, vertebral anomalies, cryptorchidism, and talipes equinovarus; however, no consistent specific pattern of malformations has been observed [Berg et al 2007, Van der Aa et al 2009, Dixit et al 2013, Morris et al 2015].
Speech is significantly delayed with median age of single words at 2.00 years based on parental report. Among probands who eventually are diagnosed with the 7q11.23 duplication syndrome, the most common reason for evaluation was developmental delay; the second most common reason was autism spectrum disorder (ASD) [Morris et al 2015].
Neurologic problems. Neurologic examination of children with the 7q11.23 duplication syndrome is abnormal in 89%; findings include hypotonia (60%), abnormalities in gait and station such as wide-based gait and difficulty with balance (62%), and adventitious movements such as involuntary motor overflow (83% of children age >14 years). Developmental coordination disorder is present in 74% [Morris et al 2015].
Seizures are present in 19% [Berg et al 2007, Torniero et al 2007, Van der Aa et al 2009, Değerliyurt et al 2012, Morris et al 2015].
Hydrocephalus requiring shunting was present in 5.6% in one series [Morris et al 2015].
When asked to indicate behavioral concerns regarding their child, 25% of parents reported that he/she exhibited high pain tolerance [Morris et al 2015].
Neuroimaging. Common MRI findings include varying degrees of ventriculomegaly, thin corpus callosum, increased extra-axial spaces, thin white matter, delayed myelination, posterior fossa cysts, and cerebellar vermis hypoplasia [Berg et al 2007, Depienne et al 2007, Torniero et al 2007, Orellana et al 2008, Torniero et al 2008, Van der Aa et al 2009, Dixit et al 2013, Prontera et al 2014, Morris et al 2015].
Craniofacial features. The characteristic craniofacial phenotype including macrocephaly, brachycephaly, broad forehead, straight eyebrows, deep-set eyes, long eyelashes, broad nasal tip, low insertion of the columella, short philtrum, thin vermilion of the upper lip, high-arched palate, and minor ear anomalies (overfolded helix, protruding ears) is observed at all ages (Figure 1). Facial asymmetry and low-hanging columella become more evident/are more common in older children and adults (Figure 2).
Cardiovascular disease. Patent ductus arteriosus is present in 15%-21% [Van der Aa et al 2009, Morris et al 2015] and septal defects are present in 2%.
Aortic dilation may be detected at any age; surgical correction has been required in some adolescents and adults. Some individuals with dilation of the ascending aorta also have had dilation of the aortic root [Zarate et al 2014, Morris et al 2015, Parrott et al 2015]. The prevalence of aortic dilation is 46% [Morris et al 2015].
Cognitive abilities. Median IQ is 85 (low average), with a range from severe intellectual disability to superior ability. On average, verbal, nonverbal reasoning, and spatial abilities are at about the same level, although a variety of patterns of relative strengths and weaknesses occur. Median reading achievement performance is at the bottom of the average range (varying from severe disability to superior) and median mathematics achievement performance is at the bottom of the low average range (also varying from severe disability to superior) [Mervis et al 2015].
Speech and language difficulties. Severe delay in expressive language was the presenting feature in the first individual reported with the 7q11.23 duplication syndrome [Somerville et al 2005].
DSM-5 speech sound disorder, present in 82%, includes articulation disorders (motor speech disorders such as childhood apraxia of speech) and phonologic disorders (cognitive-linguistic disorders reflecting inaccurate or incomplete phonologic representations or inappropriate phonologic rules).
The most common speech sound disorder in children with 7q11.23 duplication is childhood apraxia of speech (a neurologic speech disorder not due to muscle weakness or muscle tone differences but rather due to problems of planning and coordinating the muscle movements needed to pronounce words) or manifestations of this disorder.
Childhood dysarthria or its manifestations (usually resulting from low muscle tone) are also common [Velleman & Mervis 2011, Mervis et al 2015]. "Developmental" speech problems, such as distortions of /s/ or /r/, may persist past typical ages.
On omnibus tests of language abilities (including receptive and expressive modalities and vocabulary and grammar) overall performance is most commonly in the range of mild to moderate language disorder but can range from severe language disorder to average language ability. For most children vocabulary abilities are stronger than grammatic abilities [Velleman & Mervis 2011].
School-age children who had had consistent speech-language therapy from late infancy or early toddlerhood had considerably stronger language and literacy skills than children who had not. Children who were taught to read using a strong phonics approach had better reading skills than children taught with sight-word or whole-word approaches [Velleman & Mervis 2011].
Adaptive behavior. Adaptive skills are more limited than expected for IQ. Median performance is at the mild adaptive deficit to borderline level, ranging from severe adaptive deficit to average. Executive functioning difficulties also may be observed [Mervis et al 2015].
Behavior problems. Anxiety disorders are common, with approximately 60% meeting DSM criteria for at least one anxiety disorder other than specific phobia. The most common disorders are specific phobia (53%), social anxiety disorder (50%), selective mutism (29%), and separation anxiety disorder (13%) [Mervis et al 2015].
Approximately 35% met DSM criteria for ADHD and about 25% met DSM-IV criteria for oppositional defiant disorder or disruptive behavior disorder – not otherwise specified [Mervis et al 2015]. An elevated rate of physical aggression is also common.
The 7q11.23 duplication syndrome is associated with an elevated risk for autism [Sanders et al 2011]; autism spectrum disorder was the second most common indicator for genetic testing [Morris et al 2015]. Thirty-three percent screened positive for a possible autism spectrum disorder [Mervis et al 2015] and approximately 20% met criteria for an autism spectrum disorder based on a gold-standard assessment (ADOS-2 [Lord et al 2012] and ADI-R [Lord et al 1994], plus clinical judgment) with differential diagnosis taking into account selective mutism and social anxiety.
Eye, ear, nose, and throat
* Strabismus is present in 15%.
* Hearing loss has been reported in ~5%.
* Diastema is present in 31%, high-arched palate in 44%, and micrognathia in 30% [Morris et al 2015].
* Chronic otitis media affects 25% of children; ventilating tubes are placed in 15% and tonsillectomy and adenoidectomy are performed in 15%.
Gastrointestinal difficulties. Infants with the 7q11.23 duplication syndrome may have feeding problems such as difficulty with latching on, and 7.5% have persistent feeding problems requiring gastrostomy tube feeding. Chronic constipation is a significant problem in 66% of children and 27% of adults. Encopresis occurs in 20% of the children with constipation and 7.5% require hospitalization for disimpaction [Morris et al 2015].
Genitourinary tract abnormalities. Congenital anomalies of the urinary tract occur in 15%-18%, including hydronephrosis and unilateral renal agenesis [Zarate et al 2014, Morris et al 2015].
Females with unilateral renal agenesis may have abnormalities of müllerian structures [Morris et al 2015].
Approximately 15% of males have cryptorchidism [Orellana et al 2008, Van der Aa et al 2009, Morris et al 2015].
Musculoskeletal problems. Joint laxity may be present in young children. Talipes equinovarus (5%) responds to casting [Morris et al 2015].
Endocrine problems. Most affected individuals have normal stature. Growth hormone deficiency is found in 9% [Morris et al 2015].
Other. Cutis marmorata is present in 45% of children younger than age 14 years [Morris et al 2015].
### Genotype/Phenotype Correlations
In classic Williams syndrome, the 7q11.23 deletion comprises 1.55 megabases (Mb) in 95% and 1.84 Mb in 5% [Bayés et al 2003]. Duplications of both sizes have been reported but the proportion of individuals with each of the two sizes has not been determined.
Longer duplications including HIP1 have been reported [Berg et al 2007, Dixit et al 2013, Zarate et al 2014]. Berg et al [2007] and Dixit et al [2013] noted that these individuals did not seem to differ phenotypically from individuals with the recurrent 7q11.23 duplication. However, systematic comparisons to a large group of individuals with the recurrent 7q11.23 duplication are needed to determine if longer duplications are associated with a more severe phenotype, considering that longer deletions of 7q11.23 including HIP1 are associated with more severe intellectual disability than is typical for individuals with classic deletions [Stock et al 2003].
Shorter 7q11.23 duplications have also been reported [Zarate et al 2014, Parrott et al 2015]. Systematic comparisons to a large group of individuals with the recurrent 7q11.23 duplication are needed to determine phenotypic similarities and differences as a function of the specific genes duplicated.
Given the small number of individuals identified with a 7q11.23 triplication and the variable size of the triplication, it is not yet known if the phenotype associated with the triplication is more severe than that associated with the duplication.
* A child age 38 months with a 7q11.23 triplication including almost all of the genes in the WBSCR has been reported [Beunders et al 2010]. The child had gross motor delay, severe language delay, anxiety, and aggressive behavior.
* A child who has a triplication of four genes in the WBSCR plus a duplication of the remaining genes in the WBSCR has been reported [Zarate et al 2014].
* A large family including 11 individuals in three generations who had a triplication of ELN and LIMK1 has been identified [Guemann et al 2015]; ten of the 11 had a supravalvar aortic aneurysm.
### Penetrance
Penetrance is complete and is the same for males and females. Expression of phenotypic features is variable.
### Prevalence
Prevalence has been estimated at 1:7,500-1:20,000 [Van der Aa et al 2009, Velleman & Mervis 2011].
## Differential Diagnosis
The 7q11.23 duplication syndrome should be distinguished from other syndromes that include developmental delay, macrocephaly, hypotonia, distinctive craniofacies, and behavior problems. Examples include fragile X syndrome and Sotos syndrome.
The 7q11.23 duplication syndrome should be added to the list of syndromes that are associated with aortic dilation: Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndromes (see Ehlers-Danlos Syndrome, Classic Type, Ehlers-Danlos Syndrome, Hypermobility Type, Ehlers-Danlos Syndrome, Kyphoscoliotic Form, and EDS vascular type), and familial thoracic aneurysm. The distinctive facial features and developmental and behavioral phenotype of the 7q11.23 duplication syndrome distinguish it from these conditions.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with the 7q11.23 duplication syndrome and to guide medical management, the following evaluations are recommended:
* Complete physical and neurologic examination
* Plotting of growth parameters. Individuals with short stature should be evaluated for growth hormone deficiency.
* Consideration of neuroimaging especially in individuals with macrocephaly and/or abnormal neurologic examination: brain MRI to evaluate for ventriculomegaly/hydrocephalus, cerebellar vermis hypoplasia, and/or white matter abnormalities. Note: Because sedation is likely to be necessary, this should be considered carefully and may not be necessary in every patient.
* Cardiology evaluation
* Evaluation by a cardiologist
* Echocardiogram, including measurement of the aortic root and ascending aorta with computation of Z scores to monitor for progressive aortic dilation
* Genitourinary system evaluation
* Ultrasound examination of the kidneys
* Physical examination of males for cryptorchidism
* In females with unilateral renal agenesis, evaluation of müllerian structures
* Baseline ophthalmologic evaluation
* Baseline audiologic evaluation
* Clinical genetics evaluation/consultation for individualized assessment/recommendations and discussion of clinical manifestations, natural history, and recurrence risks
* Multidisciplinary developmental evaluation
* Speech and language (preferably by an examiner who is experienced in evaluating children for childhood apraxia of speech)
* Physical therapy
* Occupational therapy (including assessment for sensory integration difficulties)
* Social skills
* Intellectual abilities
* Adaptive behavior
* Vocational skills
* Assessment of behavior (preferably by a licensed psychologist) including:
* Anxiety (especially social anxiety disorder, selective mutism, separation anxiety, generalized anxiety disorder)
* Attention problems
* Oppositional behavior/aggression. If indicated, refer for a functional behavioral assessment, preferably by a board-certified behavior analyst.
* Autism spectrum disorder screening. If indicated, refer for gold-standard autism assessment (ADOS-2 [Lord et al 2012] and ADI-R [Lord et al 1994], plus clinical judgment) preferably by an examiner who is experienced with individuals who have social anxiety disorder.
### Treatment of Manifestations
Developmental disabilities should be addressed by early intervention programs, special education programs, and vocational training. Recommendations include speech/language therapy, physical therapy, and occupational therapy. Hippotherapy should be considered, especially for children who have difficulty with balance and children who have an autism spectrum disorder.
Psychological evaluation, psychiatric evaluation, and speech-language evaluation should guide therapy for the individual.
* Childhood apraxia of speech. Intensive speech-language therapy (preferably by a speech-language pathologist who has specific training in treating this disorder) is recommended for children who have childhood apraxia of speech or signs of this disorder, in order to maximize effective oral communication and prevent or limit later language impairment and/or reading disorder.
* Anxiety / selective mutism. Cognitive-behavioral intervention for anxiety (preferably by a licensed clinical psychologist) is recommended for those with social anxiety or selective mutism. Educators should be made aware of the signs and symptoms of social anxiety disorder and selective mutism and the appropriate educational interventions and support for children with these disorders. Psychotropic medication may also be indicated. For children who have selective mutism, co-treatment by the speech-language therapist and the psychologist should be strongly considered.
* Autism spectrum disorder (ASD). Applied behavior analysis (preferably conducted by a board-certified behavior analyst) or other empirically supported intervention for ASD is recommended for those with co-morbid ASD to address social communication difficulties.
* Attention deficit hyperactivity disorder (ADHD). Behavioral modifications in the home and school settings are recommended. Psychotropic medication may also be indicated.
* Aggression. When shown, physical aggression should be assessed and treated immediately to prevent development of a long-standing pattern of aggression. Applied behavior analysis intervention is recommended. Psychotropic medication may also be indicated.
* Oppositionality. Behavioral interventions are recommended to address oppositionality, with an emphasis on reinforcing positive behaviors. Psychotropic medication may also be indicated.
Specific medical problems are treated in the following ways:
* Hydrocephalus as needed with ventriculo-peritoneal shunting
* Aortic dilation with beta blocker therapy in some affected individuals. Some with severe aortic dilation have required surgery [Zarate et al 2014, Morris et al 2015, Parrott et al 2015].
* Strabismus in the usual manner
* Recurrent otitis media in the usual manner
* Poor feeding in infants. Feeding therapy
* Constipation. Aggressive management at all ages to prevent encopresis and impaction
* Growth hormone deficiency. Human growth hormone replacement therapy
* Club feet. Casting
### Surveillance
### Table 2.
Surveillance for Individuals with the 7q11.23 Duplication Syndrome
View in own window
Interval/AgeTest/Measurement
Infancy
* Measurement of head circumference at every visit or at least every 3 mos
* Hearing evaluation
Annual
* Medical evaluation
* Vision screening to monitor for refractive errors & strabismus
* Cardiology evaluation
* Echocardiogram to measure the aortic root & ascending aorta w/calculation of Z scores to monitor for progressive aortic dilation. Significant dilation may require more frequent monitoring &/or CT angiography or magnetic resonance angiography.
* Occupational & physical therapy assessment (through age 6 yrs)
* Speech & language assessment (through age 6 yrs; annual assessment beyond age 6 yrs if moderate or severe speech/language disorder is present)
* Behavior assessment (attention, anxiety, opposition, aggression)
Every 3 yearsAssessment of:
* Intellectual abilities
* Academic achievement
Adolescents/adultsGenetic counseling
Based on Mervis et al [2015], Morris et al [2015], and Parrott et al [2015]
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[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
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7q11.23 Duplication Syndrome
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None
| 24,913 |
gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK327268/
| 2021-01-18T21:46:16 |
{"synonyms": []}
|
Autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities
3-M syndrome
SpecialtyMedical genetics
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities.[1] The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972.[2] Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder.[2] It is inherited through an autosomal recessive pattern[2] and considered very rare, so far less than 100 cases worldwide have been identified.[3] Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty.[4][5]
## Contents
* 1 Symptoms
* 1.1 Growth retardation
* 1.2 Facial dysmorphia
* 1.3 Skeletal abnormalities
* 1.4 Other abnormalities
* 2 Causes
* 3 Mechanism
* 3.1 CUL7 mutations
* 3.2 OBS1 and CCDC8 mutations
* 4 Diagnosis
* 5 Prevention
* 6 Treatment and prognosis
* 7 Research directions
* 8 References
* 9 External links
## Symptoms[edit]
### Growth retardation[edit]
Individuals with 3-M syndrome suffer from severe prenatal growth retardation due to growth delays during fetal development resulting in a low birth weight. Growth delays continue after birth throughout childhood and adolescence, ultimately leading to a short stature.[6] Growth delays and immature bone development (growth retardation and delayed bone maturation) typically continue after birth (postnatally), leading to short stature (dwarfism) with proportional development of the arms and legs (as opposed to short stature with abnormally small arms and legs). In most cases, infants with 3M syndrome are unusually small and have a low birth weight despite being carried to term.[7]
### Facial dysmorphia[edit]
Many affected infants also have distinctive abnormalities of the head and facial (craniofacial) area. Many of the physical features associated with the disorder are congenital.[7] In most cases, premature closure of fibrous joints (sagittal sutures) between certain bones (parietal bones) of the skull may restrict lateral growth of the skull, causing it to appear abnormally long and narrow that is disproportionate to the body size. In addition, the forehead may be abnormally prominent and the face may be triangular shaped with a hypo plastic mid face, pointed chin.[6][4][8] Infants with this disorder may also have abnormally flat cheeks and cheekbones, large ears, prominent mouth with widely spread lips, and or underdeveloped upper jaw bones (maxillary hypoplasia). In addition, in some cases, the teeth may be abnormally crowded together, particularly toward the front of the mouth (anterior crowding) and as a result, the upper result, the upper jaw and lower teeth may not meet properly, they might be abnormally crowded together.[8]
### Skeletal abnormalities[edit]
Skeletal anomalies aren't present at birth but develop in the individual and include delayed bone maturation, slender long tubular bones, and tall vertebral bodies.[9] Joint hyper-mobility and increased risk of hip dislocation has been presented in individuals.[4] Abnormal spinal curvature, either kyhoscholiosis or hyperlordosis, causing back pain can also be experienced from this disorder.[6][4]
### Other abnormalities[edit]
Additional physical abnormalities include an abnormally short broad neck and thorax, square shoulders, flared shoulder blades, unusual curving of the 5th finger, and prominent heels can be seen in some children.[6][4][8]
In some cases, males have been reported to have impaired fertility due to the reduced production of sex hormones and hypospadias which is when the opening of the urethra is on the underside of the penis instead of the tip. In contrast, females are reported to have normal ovarian function with this disorder.[4][10]
## Causes[edit]
3-M syndrome is most often caused by a mutation in the gene CUL7 affecting three-quarters of affected individuals, including those in the Yakut population, but can also be seen with mutations in the genes OBS1 and CCDC8 at lower frequencies, about 16 percent of cases of this disorder.[2] Mutations in other genes, some of which have not been identified, account for the remaining cases.[citation needed]
This is an inheritable disorder and can be passed down from parent to offspring in an autosomal recessive pattern. An individual must receive two copies of the mutated gene,[9] one from each parent, in order to be have 3-M syndrome.[6] An individual can be a carrier for the disorder if they inherit only one mutant copy of the gene, but will not present any of the symptoms associated with the disorder.[6]
## Mechanism[edit]
### CUL7 mutations[edit]
The majority of 3-M syndrome patients have been identified with CUL7 mutations. The Cullin 7 gene contains instructions for making the protein Cullin-7.[2] Cullin-7 acts as scaffold protein in the E3 ubiquitin ligase complex.[9] The role of this complex is to tag damaged and excess proteins in the cell with ubiquitin.[2] Intracellular and extracellular signals within the cell highly regulate when and which proteins are tagged with ubiquitin. Once attached to the protein, ubiquitin serves as a signaling molecule to the proteasomes, which then bind to the ubiquinated proteins and degrades them.[2] This ubiquitin-proteasome system acts as the cell's quality control system by breaking down unwanted proteins.[2] Additionally, the system regulates the level of proteins involved in critical cell activities such as the timing of cell division and growth.[2] Mutations in the CUL7 gene blocks the ability of the cullin-7 protein to bring together the components of this E3 ubiquitin ligase complex.[2] This leads to impaired ubiquination and hence the aggregation of damaged, misfolded, and excess proteins.[2][9] Disruption of the protein degradation process plays a role in the pathogensis of prenatal growth retardation in humans, a key feature of 3-M syndrome.[9] The skeletal abnormalities that are present in individuals with this disorder suggests that this gene may play a role in the endochondral ossification process.[9] Preliminary data suggests that CUL7 is in fact involved in chondrocyte growth and proliferation.[9]
### OBS1 and CCDC8 mutations[edit]
Not much is known about the mutations in the genes OBS1and CCD8 and their function in growth and development so far.[11] However, the implications of 3M syndrome suggest that both these genes encode for proteins that play a role in the CUL7 ubiquination pathway.[1]
## Diagnosis[edit]
Due to the fact that many of the abnormalities associated with this disorder are congenital, the presence of these clinical features at birth is usually sufficient to make the diagnosis.[8] Diagnosis is suggested in children with the following: low birth weight, severe growth retardation, typical facial features, and characteristic radiological findings.[12]
In some cases, growth retardation and/or other characteristic findings suggestive of Three M syndrome may be detected before birth by ultrasound. In fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus.[8]
* Radio-graphic findings can show the skeletal malformations characteristic with this disorder, however these can only be seen in the individual after the first two years of life.[12] These usually reveal long bones that are slender, tall vertebral bodies that shorten over time, small pelvic bones, a broad thorax with slender ribs, and delayed bone age in affected individuals.[12]
Molecular genetic testing can be done on the individual to confirm the diagnosis and specify which of the genes were involved.[8] The recommended order of testing the three genes is by the likelihood of a mutation occurring in that gene: 77.5% for CUL7, 16% for OBSL1, and the percentage is unknown for CCDC8 because it is so rare.[12] Three common molecular methods used to test for mutations in a specific gene are a deletion/duplication analysis, targeted variant analysis, or a sequence analysis of the entire coding region.[10]
## Prevention[edit]
Since 3-M syndrome is a genetic condition there are no known methods to preventing this disorder.[6] However, genetic testing on expecting parents and prenatal testing, which is a molecular test that screens for any problems in the heath of a fetus during pregnancy, may be available for families with a history of this disorder to determine the fetus' risk in inheriting this genetic disorder.[6]
## Treatment and prognosis[edit]
Treatment of 3-M syndrome is aimed at the specific symptoms presented in each individual.[6] With the various symptoms of this disorder being properly managed and affected individuals having normal mental development, 3-M syndrome is not a life - threatening condition and individuals are able to lead a near normal life with normal life expectancy.[6]
Treatment may involve the coordinated efforts of many healthcare professionals, such as pediatricians, orthopedists, dentists and/or other specialists depending on the symptoms.[6][8]
* Possible management options for short stature are surgical bone lengthening or growth hormone therapy. [6]
* Orthopedic techniques and surgery may be used to treat certain skeletal abnormalities.[8]
* Plastic surgery may also be performed on individuals to help correct certain cranio-facial anomalies.[6]
* Individuals with dental abnormalities may undergo corrective procedures such as braces or oral surgeries.[8]
Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive regular clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Three M syndrome or heterozygosity for the disorder. Other treatment for Three M syndrome is symptomatic and supportive.[13]
Once diagnosed the child should be seen and monitored for growth and pubertal progress and for consideration of growth hormone (GH) therapy. It is recommended every 6–12 months until achievement of final height. Adaptive aids for people with short stature and physiotherapy are possible treatment options.[4]
Newborns should have a hip ultrasound scan to screen for developmental dysplasia of the hip. Children can be treated can be treated with recombinant human GH (r-hGH). In genera, the response is modest, however a trial of treatment over 1 year may show a reasonable response. In this case, r-hGH should be continued long-term. Higher r-hGH doses have been used in individual cases. The issues of fertility should be discussed with male patients at the end of puberty and semen analysis offered.[4]
3-M syndrome is not a life-treating condition and the prognosis is good.
## Research directions[edit]
Recent research has been focused on studying large series of cases of 3-M syndrome to allow scientists to obtain more information behind the genes involved in the development of this disorder. Knowing more about the underlying mechanism can reveal new possibilities for treatment and prevention of genetic disorders like 3-M syndrome.[citation needed]
* One study looks at 33 cases of 3M syndrome, 23 of these cases were identified as CUL7 mutations: 12 being homozygotes and 11 being heterozygotes.[9] This new research shows genetic heterogeneity in 3M syndrome, in contrast to the clinical homogeneity.[9] Additional studies are still ongoing and will lead to the understanding of this new information.[9]
* This study provides more insight on the three genes involved in 3M syndrome and how they interact with each other in normal development.[14] It led to the discovery that the CUL7, OBS1, and CCDC8 form a complex that functions to maintain microtubule and genomic integrity.[14]
* Recent studies propose that CUL&, OBSL1, and CCDC8 proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development.[14]
## References[edit]
1. ^ a b Erickson, Robert P; Wynshaw-Boris, Anthony Joseph, eds. (2016). "3M Syndrome". Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3rd ed.). doi:10.1093/med/9780199934522.001.0001. ISBN 9780199934522 – via Oxford Medicine Online.
2. ^ a b c d e f g h i j k "3-M syndrome". Genetics Home Reference. December 12, 2017.
3. ^ Holder-Espinasse, Muriel; Irving, Melita; Cormier-Daire, Valérie (March 2, 2011). "Clinical utility gene card for: 3M syndrome". European Journal of Human Genetics. 19 (9): 1017. doi:10.1038/ejhg.2011.32. PMC 3179355. PMID 21364696.
4. ^ a b c d e f g h Clayton P, Murray P. (February 2014). "3M syndrome". Orphanet.
5. ^ Irving, Melita; Holder-Espinasse, Muriel (March 25, 2002) [Updated February 7, 2019]. "Three M Syndrome". In Adam, Margaret P.; et al. (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301654. Retrieved November 5, 2019.
6. ^ a b c d e f g h i j k l m "Three M Syndrome". DoveMed. November 8, 2016. Retrieved December 13, 2017.
7. ^ a b "Children's Craniofacial Association". Children's Craniofacial Association. Retrieved November 5, 2019.
8. ^ a b c d e f g h i "Three M Syndrome". Rare Disease Database. NORD (National Organization for Rare Disorders). Retrieved December 13, 2017.
9. ^ a b c d e f g h i j Huber C, Delezoide AL, Guimiot F, et al. (2009). "A large-scale mutation search reveals genetic heterogeneity in 3M syndrome". European Journal of Human Genetics. 17 (3): 395–400. doi:10.1038/ejhg.2008.200. PMC 2986175. PMID 19225462.
10. ^ a b "Three M syndrome 1". Genetic Testing Registry. Retrieved November 7, 2017.
11. ^ Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC (December 1, 2012). "Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling". Journal of Molecular Endocrinology. 49 (3): 267–275. doi:10.1530/jme-12-0034. ISSN 0952-5041. PMID 23018678.
12. ^ a b c d Irving & Holder-Espinasse (2002), Diagnosis
13. ^ "Ubiquitin – an overview". ScienceDirect. Retrieved December 13, 2017.
14. ^ a b c Yan, Jun; Yan, Feng; Li, Zhijun; Sinnott, Becky; Cappell, Kathryn M.; Yu, Yanbao; Mo, Jinyao; Duncan, Joseph A.; Chen, Xian; Cormier-Daire, Valerie; Whitehurst, Angelique W.; Xiong, Yue (June 5, 2014). "The 3M Complex Maintains Microtubule and Genome Integrity". Molecular Cell. 54 (5): 791–804. doi:10.1016/j.molcel.2014.03.047. ISSN 1097-2765. PMC 4165194. PMID 24793695.
## External links[edit]
Classification
D
* ICD-10: Q87.1
* ICD-9-CM: xxx
* OMIM: 273750 609577 610991 612921
* MeSH: C535314 C535725, C535314
* DiseasesDB: 33510
External resources
* GeneReviews: 3-M Syndrome
* Orphanet: 2616
* v
* t
* e
Disorders of translation and posttranslational modification
Translation
* Ribosome: Diamond–Blackfan anemia
* FMR1
* Fragile X syndrome
* Fragile X-associated tremor/ataxia syndrome
* Premature ovarian failure 1
* Initiation factor: Leukoencephalopathy with vanishing white matter
* snRNP: Retinitis pigmentosa 33
Posttranslational modification
Protein folding
* Alzheimer's disease
* Huntington's disease
* Creutzfeldt–Jakob disease
* chaperonins: 3-Methylglutaconic aciduria 5
Protein targeting
* I-cell disease
Ubiquitin
* E1: X-linked spinal muscular atrophy 2
* E3: Johanson–Blizzard syndrome
* Von Hippel–Lindau disease
* 3-M syndrome
* Angelman syndrome
* Deubiquitinating enzyme: Machado–Joseph disease
* Aneurysmal bone cyst
* Multiple familial trichoepithelioma 1
SUMO
* OFC10
Other
* Multiple sulfatase deficiency
* Hyperproinsulinemia
* Ehlers–Danlos syndrome 6
*[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
|
3-M syndrome
|
c1848862
| 24,914 |
wikipedia
|
https://en.wikipedia.org/wiki/3-M_syndrome
| 2021-01-18T19:03:52 |
{"gard": ["5667"], "mesh": ["C535725", "C535314"], "umls": ["C1848862", "C1851996"], "orphanet": ["2616"], "wikidata": ["Q3335660"]}
|
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.
*[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
|
PLAA-associated neurodevelopmental disorder
|
c4479631
| 24,915 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521426
| 2021-01-23T17:06:48 |
{"omim": ["617527"], "synonyms": ["PLAAND"]}
|
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
## Epidemiology
About fifty cases have been reported so far.
## Clinical description
Other reported malformations include pseudocleft of the upper lip (resembling a surgically repaired cleft or a fused cleft), malformed ears, conduction or sensorineural deafness, pre-auricular pits, lip pits, highly arched palate, dental anomalies, ocular anomalies (coloboma, microphthalmia), and subcutaneous cysts of the scalp. Premature greying of the hair occurs in affected adults. One patient had, in addition to the typical features of BOFS, partial agenesis of the cerebellar vermis, while two sibs with this syndrome also had orbital hemangiomatous cysts. Urologic examination may reveal kidney abnormalities (agenesis, cysts, hydronephrosis). Preaxial polydactyly and white forelock were described in two cases of BOFS. Intelligence is normal, but speech is hypernasal. Growth continues after birth, but stays between the third and fifth percentile. Postauricular cervical branchial defects are among the most constant features of the syndrome, and pathological findings of the excised branchial defects showed thymic remnants in several cases.
## Etiology
BOFS is caused by mutations involving the gene TFAP2A (transcription factor AP-2 alpha; 6p24).
## Diagnostic methods
Diagnosis is clinical and may be confirmed by DNA analysis.
## Differential diagnosis
BOFS should be differentiated from the branchio-oto-renal syndrome (BOR syndrome; see this term).
## Genetic counseling
Although some cases are sporadic, most of the reported cases were familial. The mode of transmission is autosomal dominant.
## Management and treatment
Management is symptomatic and includes combined treatments for hearing impairment and for skin lesions.
## Prognosis
Prognosis is function of the severity of associated manifestations.
*[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
|
Branchio-oculo-facial syndrome
|
c0376524
| 24,916 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1297
| 2021-01-23T18:44:00 |
{"gard": ["3212"], "mesh": ["D019280"], "omim": ["113620"], "umls": ["C0376524"], "icd-10": ["Q18.8"], "synonyms": ["BOFS"]}
|
A number sign (#) is used with this entry because combined deficiency of factor V and factor VIII type 2 (F5F8D2) is caused by homozygous mutation in the MCFD2 gene (607788) on chromosome 2p.
For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300.
Description
Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).
Clinical Features
Oeri et al. (1954) presented relatively convincing laboratory data for the existence of a combined deficiency of factors V and VIII. Affected patients demonstrated a moderate bleeding tendency in association with plasma levels of FV and FVIII between 5% and 30%.
Mapping
To identify a gene mutant in families whose combined deficiency of factor V and factor VIII was not caused by a defect in mannose-binding lectin-1 (LMAN1; 601567) on chromosome 18, Zhang et al. (2003) performed whole-genome linkage analysis by homozygosity mapping and identified a region on 2p21-p16.3 linked to F5F8D in non-LMAN1-linked families.
Molecular Genetics
Zhang et al. (2003) found that inactivating mutations in the MCFD2 gene (607788.0001-607788.0007) cause F5F8D with a phenotype indistinguishable from that caused by mutations in the LMAN1 gene. MCFD2 is localized to the ER-Golgi intermediate compartment (ERGIC) through a direct, calcium-dependent interaction with LMAN1. These findings suggested that the MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.
Combined with their previous reports, Zhang et al. (2006) had identified LMAN1 or MCFD2 mutations as the cause of F5F8D in 71 of 76 families. Among the 5 families in which no mutation was identified, 3 were due to misdiagnosis, with the remaining 2 likely carrying LMAN1 or MCFD2 mutations that were missed by direct sequencing. Thus, mutations in one or the other of these genes may account for all cases of F5F8D. Immunoprecipitation and Western blot analysis detected a low level of LMAN1-MCFD2 complex in lymphoblasts derived from patients with missense mutations in LMAN1 or MCFD2, suggesting that complete loss of the complex may not be required for clinically significant reduction in factor V and factor VIII.
Zhang et al. (2008) identified 4 different homozygous MCFD2 mutations (see, e.g., 607788.0008) in affected members of 4 families with the disorder. These families were of Greek, Afro-Caribbean, Saudi Arabian, and Italian descent.
Genotype/Phenotype Correlations
By reviewing available published data on 46 patients with MCFD2 mutations and 96 patients with LMAN1 mutations, Zhang et al. (2008) found that patients with MCFD2 mutations had lower levels of both FV and FVIII compared to those with LMAN1 mutations. Decreased plasma values for both factors were correlated for each patient, suggesting that deficiencies in LMAN1 or MCFD2 exert a similar impact on FV and FVIII. In addition, platelet factor V levels were reduced to the same extent as plasma factor V. Zhang et al. (2008) suggested that MCFD2 plays a primary role in the export of FV and FVIII from the endoplasmic reticulum, whereas LMAN1 plays an indirect role through its interaction with MCFD2.
*[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
|
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
|
c1856883
| 24,917 |
omim
|
https://www.omim.org/entry/613625
| 2019-09-22T15:58:05 |
{"mesh": ["C565577"], "omim": ["613625"], "orphanet": ["35909"]}
|
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
Xu et al. (2005) performed genomewide linkage analysis in 269 prostate cancer families with at least 5 affected members and found significant linkage at chromosome 22q12 (lod score, 3.57).
Camp et al. (2006) noted that at least 8 other studies had pointed to chromosome 22q12.3 as a site of particular significance in prostate cancer, with lod scores ranging from 1.50 to 3.57. They performed fine mapping and localization of the region using a pedigree-specific recombinant mapping approach in 14 informative, high-risk Utah pedigrees. These 14 pedigrees were chosen because they were either 'linked' or 'haplotype-sharing' pedigrees or both. 'Linked' pedigrees were those with significant pedigree-specific linkage evidence pointing to the 22q12.3 region, regardless of the number of prostate cancer cases sharing the segregating haplotype. 'Haplotype-sharing' pedigrees were those with at least 5 prostate cancer cases sharing a segregating haplotype in the 22q12.3 region, regardless of the linkage evidence. Using this approach, Camp et al. (2006) identified a segment at 22q12.3 between markers D22S1265 and D22S277 as the region most likely to contain the 22q prostate cancer predisposition gene. To further refine the linkage of prostate cancer to chromosome 22q12.3, Camp et al. (2007) added 40 new pedigrees with prostate cancer to the 14 Utah kindreds from their previous study. When all 54 pedigrees were considered, the consensus region was narrowed to a 2.2-Mb region flanked by D22S281 and D22S683, which included 11 genes.
Johanneson et al. (2008) performed fine mapping using haplotype and recombination data from 42 high-risk families and found that no clear consensus interval was present when all families were used. However, in a subset of 14 families with 5 or more affected men per family, they identified a 2.53-Mb shared consensus segment overlapping the previously published interval; combining their results with earlier data reduced the critical region at chromosome 22q12.3 to approximately 1.36 Mb.
Johanneson et al. (2010) performed family-based association testing using SNPs in the 22q12 region to reevaluate the 42 families with prostate cancer from 2 independent cohorts identified by Johanneson et al. (2008). There were 150 men with prostate cancer with available DNA. Compared to 506 unrelated Caucasian controls, the strongest association was found with 2 SNPS: rs2097465 and rs2017329 (p values of both about 7.0 x 10(-5)) at the 5-prime end of the APOL3 (607253) gene. Sequencing of the APOL3 gene identified an upstream SNP (rs132660) that also showed an association. The findings refined the candidate region to 15 kb. An association with rs132660 was confirmed in another data set of 1,320 patients and 1,266 controls; however, in an additional sample of 1,176 cases and 1,105 controls, there was no association with rs132660 or rs2097465.
*[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
|
PROSTATE CANCER, HEREDITARY, 6
|
c2931456
| 24,918 |
omim
|
https://www.omim.org/entry/609558
| 2019-09-22T16:06:00 |
{"doid": ["10283"], "mesh": ["C537243"], "omim": ["609558"], "orphanet": ["1331"], "synonyms": ["Alternative titles", "HPC6"]}
|
## Summary
### Clinical characteristics.
Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
### Diagnosis/testing.
The diagnosis of NF1 is usually based on clinical findings. Heterozygous pathogenic variants in NF1 are responsible for neurofibromatosis 1. Molecular genetic testing of NF1 is rarely needed for diagnosis.
### Management.
Treatment of manifestations: Referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, endocrine system, spine, or long bones; surgical removal of disfiguring or uncomfortable discrete cutaneous or subcutaneous neurofibromas. Surgical treatment of plexiform neurofibromas is often unsatisfactory. Complete surgical excision, when possible, of malignant peripheral nerve sheath tumors. Treatment of optic gliomas is generally unnecessary as they are usually asymptomatic and clinically stable. Dystrophic scoliosis often requires surgical management, whereas nondystrophic scoliosis can usually be treated conservatively. Methylphenidate treatment often benefits children with attention-deficit/hyperactivity disorder.
Surveillance: Annual physical examination by a physician familiar with the disorder; annual ophthalmologic examination in children, less frequently in adults; regular developmental assessment of children; regular blood pressure monitoring; MRI for follow up of clinically suspected intracranial tumors and other internal tumors. Begin annual mammography in women at age 30 with consideration of annual breast MRI in women between ages 30 and 50 years.
### Genetic counseling.
NF1 is inherited in an autosomal dominant manner. Half of affected individuals have NF1 as the result of a de novo NF1 pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting the altered NF1 allele, but the disease manifestations are extremely variable, even within a family. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the pathogenic variant in a family is known.
## Diagnosis
### Suggestive Findings
Neurofibromatosis 1 (NF1) should be suspected in individuals who have any of the following findings:
* Six or more café au lait macules (Figure 1) >5 mm in greatest diameter in prepubertal individuals and >15 mm in greatest diameter in postpubertal individuals
* Two or more neurofibromas (Figure 2) of any type or one plexiform neurofibroma (Figure 3)
* Freckling in the axillary or inguinal regions
* Optic glioma
* Two or more Lisch nodules (iris hamartomas)
* A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudarthrosis
* A first-degree relative (parent, sib, or offspring) with NF1 as defined by the above criteria
#### Figure 1.
Café au lait macules
#### Figure 2.
Neurofibromas
#### Figure 3.
Plexiform neurofibroma
### Establishing the Diagnosis
The diagnosis of NF1 is established in a proband who meets the diagnostic criteria for neurofibromatosis 1 (NF1) developed by the National Institutes of Health [NIH 1988]. The NIH diagnostic criteria for NF1 are met in an individual who has two or more of the features listed in Suggestive Findings.
Note: As described below (Children), care must be taken in assigning the diagnosis of NF1 to a child with no known family history of NF1 since the diagnostic pigmentary findings overlap other disorders.
Adults. The NIH diagnostic criteria are both highly specific and highly sensitive in adults with NF1 [Ferner et al 2011, Ferner & Gutmann 2013].
Children
* Only about half of children with NF1 and no known family history of NF1 meet the NIH criteria for diagnosis by age one year; almost all do by age eight years [DeBella et al 2000a] because many features of NF1 increase in frequency with age.
* Children who have inherited NF1 from an affected parent can usually be identified within the first year of life because diagnosis requires just one feature in addition to a positive family history. This feature is usually multiple café au lait spots, which develop in infancy in more than 95% of individuals with NF1 [DeBella et al 2000b, Nunley et al 2009].
* Young children with multiple café au lait spots and no other NF1 features whose parents do not show signs of NF1 on careful physical and ophthalmologic examination should be strongly suspected of having NF1 and followed clinically as though they do [Nunley et al 2009].
* A definite diagnosis of NF1 can be made in most of these children by age four years using the NIH criteria.
* Young children who present with six or more café au lait macules and freckling in axillary or inguinal regions and who have no known family history of NF1 will meet the diagnostic criteria for NF1, but diagnoses of Legius syndrome or constitutional mismatch repair syndrome are also possible and need to be considered especially if no additional findings of NF1 develop with increasing age. See Differential Diagnosis.
Molecular genetic testing for identification of a heterozygous pathogenic variant in NF1 may be indicated in some individuals:
* Testing is indicated for individuals in whom NF1 is suspected but who do not fulfill the NIH diagnostic criteria. This is rarely necessary after early childhood.
* Testing may be useful in a young child with a serious tumor (e.g., optic glioma) in whom establishing a diagnosis of NF1 immediately would affect management.
* Testing of an adult with NF1 is necessary if prenatal or preimplantation genetic diagnosis in a current or future pregnancy is anticipated.
* In some families with spinal NF1 [Burkitt Wright et al 2013] or the NF1 c.2970-2972 delAAT pathogenic variant [Upadhyaya et al 2007, Quintáns et al 2011], affected individuals may not meet the NIH diagnostic criteria, especially in childhood. In such families, molecular testing is indicated for diagnosis of at-risk relatives.
Revision of the NIH diagnostic criteria has been recommended to take into account the availability of molecular testing for pathogenic variants of NF1 as well as clinical features (e.g., choroidal freckling, nevus anemicus, "unidentified bright objects") that often occur in childhood but were not known at the time of NIH Consensus Conference [Curless et al 1998, Ferrari et al 2014, Tadini et al 2014, Parrozzani et al 2015].
Single-gene testing. Sequence analysis of NF1 genomic DNA (gDNA) and/or cDNA (complementary DNA, copied from mRNA) is performed in association with gene-targeted deletion analysis.
* A multistep pathogenic variant detection protocol that combines analysis of genomic DNA and cDNA (mRNA) and testing for whole-gene or exon copy number changes is recommended if molecular genetic testing is indicated [Wimmer et al 2006, Messiaen & Wimmer 2008, Valero et al 2011, Sabbagh et al 2013]. This approach identifies more than 95% of NF1 pathogenic variants in individuals fulfilling the NIH diagnostic criteria. Because of the the variety and rarity of individual pathogenic variants found in people with NF1 and the frequency of pathogenic variants that affect splicing (22%-30%, more than 1/3 of which are not detected by gDNA sequencing) [Evans et al 2016], methods that include cDNA sequencing have higher detection rates than methods based solely on analysis of gDNA (Table 1).
* A multistep detection protocol that includes only cDNA (mRNA) sequencing and testing for whole-gene or exon copy number changes has been described that also has a diagnostic sensitivity of more than 95% [Evans et al 2016]. In this protocol, targeted gDNA sequencing is used to confirm that the pathogenic variants are in fact genomic.
* gDNA-only variant detection protocols are also available. These approaches, which involve sequencing of the entire NF1 coding region and adjacent splice sites from genomic DNA, have a somewhat lower diagnostic sensitivity, even if testing for whole-gene or exon copy number changes is also included [Maruoka et al 2014, van Minkelen et al 2014, Pasmant et al 2015, Zhang et al 2015, Calì et al 2017].
Chromosomal microarray analysis (CMA) may be performed to detect NF1 whole-gene deletions if the NF1 microdeletion phenotype is suspected clinically [Mautner et al 2010, Pasmant et al 2010, Kehrer-Sawatzki & Cooper 2012].
A multigene panel that includes NF1 and other genes of interest (see Differential Diagnosis) may also be considered. However, with the exception of SPRED1, the clinical phenotypes associated with constitutional variants of other genes on rasopathy, Noonan syndrome, or hereditary cancer panels are unlikely to overlap with that of NF1, and the detection frequency of pathogenic variants in NF1 on any panel performed by genomic DNA sequencing alone is likely to be stubstantially lower than that obtained by cDNA (mRNA) and targeted gDNA sequencing and copy number testing of NF1 with a multistep protocol. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
Note: Cytogenetic testing may be considered if a clinical diagnosis of NF1 is certain but no pathogenic variant is found on analysis of NF1 cDNA (mRNA), gDNA, and copy number. Cytogenetic rearrangements are responsible for NF1 in fewer than 1% of affected individuals, and many of the pathogenic changes that occur in these cases can probably be detected using multistep cDNA-based testing, as described above.
### Table 1.
Molecular Genetic Testing Used in Neurofibromatosis 1
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
NF1Multistep pathogenic variant detection protocol based on cDNA and gDNA sequence analysis 3, 4>95% 5
Genomic DNA sequence analysis 3~60%-90% 6
Gene-targeted deletion/duplication analysis 4~5% 7
CMA~5% 7, 8
Cytogenetic analysis<1% 9
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
5\.
Messiaen & Wimmer [2008], Valero et al [2011], Sabbagh et al [2013], Evans et al [2016]
6\.
Maruoka et al [2014], van Minkelen et al [2014], Pasmant et al [2015], Zhang et al [2015], Calì et al [2017]
7\.
Whole-gene deletions occur in 4%-5% of individuals with NF1 [Kluwe et al 2004], and testing for whole NF1 deletions alone is sometimes performed when a "large-deletion phenotype" (see Genotype-Phenotype Correlations, "NF1 whole-gene deletion. . .") is suspected clinically [Mautner et al 2010, Pasmant et al 2010, Kehrer-Sawatzki & Cooper 2012].
8\.
Detects large-scale (0.25- to 10-Mb) deletions or duplications. The pathogenic changes that occur in these cases can usually also be detected using multistep cDNA-based testing.
9\.
Detects chromosome rearrangements that cannot usually be detected by CMA or multistep cDNA-based testing. Most NF1 whole-gene deletions cannot be detected by cytogenetic analysis.
## Clinical Characteristics
### Clinical Description
The clinical manifestations of neurofibromatosis 1 (NF1) are extremely variable [Ferner et al 2011, Ferner & Gutmann 2013, Dunning-Davies & Parker 2016].
#### Cutaneous Features
Café au lait spots and freckling. Multiple café au lait spots occur in nearly all affected individuals, and intertriginous freckling develops in almost 90%.
Typically, the characteristic café au lait spots in individuals with NF1 are ovoid in shape with well-defined borders, uniform in color (a little darker than the background pigmentation of the individual's skin), and about 1-3 cm in size; however, they may be smaller or much larger, lighter or darker, or irregular in shape. The pigmentation may also be irregular, with freckling or a more deeply pigmented smaller café au lait spot within a larger more typically colored lesion. Café au lait spots are flat and flush with the surrounding skin; if the skin of the lesion is raised or has an unsually soft or irregular texture in comparison to the surrounding skin, an underlying plexiform neurofibroma is likely. The darker pigmentation of café au lait spots may be difficult to see in people with very fair skin or very dark skin, where the color of the lesions is similar to that of the rest of the skin. A Wood's light is useful in such cases to demonstrate the pigmented macules. Café au lait spots are not seen on the palms or soles in people with NF1 but can occur almost anywhere else on the body.
Clusters of freckles are frequent in sun-exposed areas and may also be seen diffusely over the trunk, proximal extremities, and neck in people with NF1. Similar freckling is common in fair-skinned people who do not have NF1. However, people with NF1 also develop freckles in areas where skin rubs against skin – in the axilla, groin, and under the breasts in women. These freckles look like any others: it is only their location that is unusual.
Neurofibromas. Numerous benign cutaneous neurofibromas are usually present in adults with NF1.
Discrete cutaneous and subcutaneous neurofibromas are rare before late childhood. The total number of neurofibromas seen in adults with NF1 varies from a few to hundreds or even thousands. Additional cutaneous and subcutaneous neurofibromas continue to develop throughout life, although the rate of appearance may vary greatly from year to year. Many women experience a rapid increase in the number and size of neurofibromas during pregnancy [Roth et al 2008].
About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically [Tonsgard et al 1998, Mautner et al 2008, Plotkin et al 2012]. Most of these tumors grow slowly if at all over periods of years, but very rapid growth can occur in benign lesions, especially in early childhood [Dombi et al 2007, Tucker et al 2009a, Nguyen et al 2012]. When symptomatic, plexiform neurofibromas can cause disfigurement and may compromise function or even jeopardize life.
Other skin findings. Juvenile xanthogranuloma and nevus anemicus are more common than expected in people with NF1 and may be useful in supporting the diagnosis in young children who do not meet the standard diagnostic criteria [Marque et al 2013, Ferrari et al 2014, Hernández-Martín et al 2015, Vaassen & Rosenbaum 2016]. Juvenile xanthogranulomas are small, tan- or orange-colored papules that may occur in clusters. Nevus anemicus is an irregularly shaped macule that is paler than surrounding skin and that does not get red when rubbed, as the skin surrounding it does.
#### Ocular Findings
Ocular manifestations of NF1 include optic gliomas, which may lead to blindness, Lisch nodules, and choroidal freckling. Lisch nodules are innocuous iris hamartomas that can be demonstrated on slit lamp examination in almost all adults but in fewer than half of children with NF1 younger than age five years [Ragge et al 1993]. Choroidal freckling cannot be seen on standard opthalmologic examination but can be visualized by scanning laser ophthalmoscopy with infrared or near-infrared light, infrared reflectance imaging, or optical coherence tomography [Vagge et al 2016]. The lesions, which are Schwann cell proliferations arrayed in concentric rings around an axon, occur in the majority of people with NF1 of all ages and increase in prevalence and extent with age. Infrequent ocular manifestations of NF1 include retinal vasoproliferative tumors [Hood et al 2009, Shields et al 2014] and neovascular glaucoma [Elgi et al 2010, Chiu et al 2011, Al Freihi et al 2013].
Symptomatic optic pathway gliomas in individuals with NF1 usually present before age six years with loss of visual acuity, proptosis, or strabismus, but these tumors may not become symptomatic until later in childhood or even in adulthood [Friedrich & Nuding 2016]. Symptomatic optic pathway gliomas in NF1 are frequently stable for many years or only very slowly progressive; some of these tumors even spontaneously regress [Listernick et al 2007, Shamji & Benoit 2007, Nicolin et al 2009, Sellmer et al 2018].
#### Neurologic Manifestations
For a discussion of peripheral nerve and central nervous system tumors see Cutaneous Features and Tumors.
Most individuals with NF1 have normal intelligence, but learning disabilities or behavioral problems occur in 50%-80% [Pride & North 2012, Lehtonen et al 2013]. Frank intellectual disability is seen in 6%-7%, a frequency about twice that in the general population [Pride & North 2012, Lehtonen et al 2013]. Features of autism spectrum disorder occur in up to 30% of children with NF1 [Garg et al 2013a, Garg et al 2013b, Walsh et al 2013, Plasschaert et al 2015, Morris et al 2016]. A variety of other learning and behavioral problems that persist into adulthood have been described [Descheemaeker et al 2013, Pride et al 2013, Granström et al 2014]. Deficits in visual-spatial performance, social competence, and attention are most commonly seen in people with NF1, but problems with motor function, executive function, memory, and language are also frequent [Pride & North 2012, Lehtonen et al 2013].
Some people with NF1 develop a diffuse polyneuropathy, often in association with multiple nerve root tumors [Drouet et al 2004, Ferner et al 2004]. Affected patients are at high risk for malignant peripheral nerve sheath tumors.
Seizures are more common in people with NF1 than in the general population and can occur at any age [Hsieh et al 2011, Ostendorf et al 2013]. The seizures are usually focal and may be associated with the presence of a brain tumor or area of infarction [Ostendorf et al 2013]. Control of focal seizures in people with NF1 may require the use of more than one antiepileptic drug or surgical removal of the affected part of the brain [Ostendorf et al 2013, Gales & Prayson 2017].
Sleep disturbance is frequent in people with NF1 [Leschziner et al 2013, Licis et al 2013, Maraña Pérez et al 2015]. Headaches, including migraine headaches, are also very common [Pinho et al 2014, Afridi et al 2015]. Pain in association with plexiform neurofibromas is also common [Kim et al 2009, Tucker et al 2009a] and must be distinguished from the pain that may be the first sign of transformation to a malignant peripheral nerve sheath tumor.
#### Musculoskeletal Features
Generalized osteopenia is more common than expected in people with NF1, and osteoporosis appears to be both more common and earlier in onset than in the general population [Tucker et al 2009b, Heervä et al 2012, Petramala et al 2012, Armstrong et al 2013, Heervä et al 2013]. The pathogenesis of these bony changes is not fully understood, but individuals with NF1 have often been found to have lower-than-expected serum 25-hydroxyvitamin D concentrations, elevated serum parathyroid hormone levels, and evidence of increased bone resorption [Lammert et al 2006, Brunetti-Pierri et al 2008, Stevenson et al 2008, Tucker et al 2009b, Stevenson et al 2011, Heervä et al 2012, Petramala et al 2012]. The function of both osteoblasts and osteoclasts appears to be abnormal in bone from people with NF1 [Seitz et al 2010, Kühnisch et al 2014].
Dysplasia of the long bones, most often the tibia and fibula, is an infrequent but characteristic feature of NF1 [Elefteriou et al 2009]. The lesion is congenital and is almost always unilateral. It usually presents in infancy with anteriolateral bowing of the lower leg, which is quite different from the common physiologic bowing seen in children when they begin to walk. Early recognition of tibial dysplasia permits bracing, which may prevent fracture. The initial radiographic changes are narrowing of the medullary canal with cortical thickening at the apex of the bowing [Stevenson et al 2007]. Long-bone dysplasia appears to reflect an abnormality of the bone itself and is not usually associated with adjacent neurofibromas. In contrast, sphenoid wing dysplasia and vertebral dysplasia – the other two characteristic focal bony lesions of NF1 – are associated with adjacent plexiform neurofibroma or dural ectasia (or both) [Alwan et al 2005, Arrington et al 2013, Nguyen et al 2015, Hu et al 2016].
Sphenoid wing dysplasia may be detected incidentally on cranial imaging or present as strabismus or asymmetry of the orbits. It is often static but may be progressive, occasionally disrupting the integrity of the orbit and producing pulsating enophthalmos [Friedrich et al 2010].
Scoliosis in NF1 may be of either the dystrophic or nondystrophic type [Elefteriou et al 2009]. The latter resembles common adolescent scoliosis and is not associated with vertebral anomalies. Dystrophic scoliosis occurs at a much younger age (typically age 6-8 years), is characterized by an acute angle over a short segment of the spine, and may be very rapidly progressive.
Healing of fractured or defective bone in any of these focal lesions is often unsatisfactory; treatment is frequently difficult [Pessis et al 2015, Borzunov et al 2016], and best accomplished by experienced specialists.
Children with NF1 have reduced muscle strength when compared to unaffected children of the same age, sex, and weight [Summers et al 2015].
#### Vascular Involvement
Hypertension is common in NF1 and may develop at any age [Friedman et al 2002, Lama et al 2004]. In most cases, the hypertension is "essential," but a characteristic NF1 vasculopathy can produce renal artery stenosis, coarctation of the aorta, or other vascular lesions associated with hypertension. A renovascular cause is often found in children with NF1 and hypertension [Fossali et al 2000, Han & Criado 2005].
Stroke is more common and often occurs at a younger age among people with NF1 than in the general population [Terry et al 2016]. NF1 vasculopathy involving major arteries or arteries of the heart or brain can have serious or even fatal consequences [Cairns & North 2008, Rea et al 2009, Stansfield et al 2012, Koss et al 2013].
* Anatomically variant stenotic or ectatic cerebral arteries and intracranial aneurysms occur more frequently in individuals with NF1 than in the general population [Rosser et al 2005, Schievink et al 2005, Bekiesińska-Figatowska et al 2014, D'Arco et al 2014].
* Cerebrovascular abnormalities in NF1 typically present as stenoses or occlusions of the internal carotid, middle cerebral, or anterior cerebral artery.
* Small telangiectatic vessels form around the stenotic area and appear as a "puff of smoke" (moya-moya) on cerebral angiography.
* Moya-moya develops about three times more often than expected in children with NF1 after cranial irradiation for primary brain tumor [Ullrich et al 2007b, Murphy et al 2015].
#### Cardiac Issues
Valvar pulmonic stenosis is more common in individuals with NF1 than in the general population [Lin et al 2000]. Congenital heart defects or hypertrophic cardiomyopathy may be especially frequent among persons with NF1 whole-gene deletions [Nguyen et al 2013b]. Adults with NF1 may develop pulmonary hypertension, often in association with parenchymal lung disease, another late-onset but potentially quite serious feature of NF1 [Stewart et al 2007, Zamora et al 2007, Montani et al 2011, Ennibi et al 2015]. Intracardiac neurofibromas may also occur [Nguyen et al 2013b].
#### Tumors
Neurofibromas are benign Schwann cell tumors that can affect virtually any nerve in the body [Stemmer-Rachamimov & Nielsen 2012]. Cutaneous neurofibromas develop in almost all people with NF1 and increase in number ‒ and very slowly in size ‒ with age. About half of people with NF1 have plexiform neurofibromas, but in most cases they are internal, and thus not apparent on clinical examination. The extent of plexiform neurofibromas seen on the surface of the body often cannot be determined by clinical examination alone. MRI is the method of choice for imaging plexiform neurofibromas (see Imaging).
Plexiform neurofibromas tend to grow in childhood and adolescence and then remain stable throughout adulthood [Dombi et al 2007, Tucker et al 2009a, Nguyen et al 2012]. Although most plexiform neurofibromas are asymptomatic, they may cause pain, grow to enormous size, cause serious disfigurement, produce overgrowth or erosion of adjacent tissue, or impinge on the function of nerves and other structures.
Malignant peripheral nerve sheath tumors are the most frequent malignant neoplasms associated with NF1, occurring in approximately 10% of affected individuals [Rasmussen et al 2001, Evans et al 2002, Walker et al 2006, Friedrich et al 2007, McCaughan et al 2007]. In comparison to the general population, malignant peripheral nerve sheath tumors tend to occur at a younger age in people with NF1, often in adolescence or early adulthood [Hagel et al 2007, McCaughan et al 2007, Valentin et al 2016]. Individuals with NF1 who have a whole-gene deletion [De Raedt et al 2003, Kluwe et al 2003, Kehrer-Sawatzki et al 2012], who have benign subcutaneous neurofibromas, or whose burden of benign internal plexiform neurofibromas is high appear to be at greater risk of developing malignant peripheral nerve sheath tumors than people with NF1 who do not have these features [Tucker et al 2005, Mautner et al 2008, Plotkin et al 2012, Nguyen et al 2014].
The most common neoplasms apart from benign neurofibromas in people with NF1 are optic nerve gliomas and brain tumors [Prada et al 2015, Blanchard et al 2016, Friedrich & Nuding 2016, Parkhurst & Abboy 2016, Sellmer et al 2017, Sellmer et al 2018]. Optic gliomas in people with NF1 are usually asymptomatic and remain so throughout life. In fact, the majority of these lesions appear to regress spontaneously – their prevalence declines from approximately 20% in young children to less than 5% in older adults with NF1 [Sellmer et al 2018]. The clinical course in patients with optic giomas tends to be milder in patients with NF1 than in those who do not have have NF1 [Mandiwanza et al 2014]. Second central nervous system gliomas occur in 17%-20% of individuals with NF1 who have optic pathway gliomas [Sharif et al 2006, Sellmer et al 2018].
Brain stem and cerebellar gliomas in individuals with NF1 may also follow a less aggressive course than in those who do not have NF1 [Ullrich et al 2007a, Sellmer et al 2017]. About 20% of people with NF1 who have one non-optic glioma have two or more of these tumors [Sellmer et al 2017]. Non-optic gliomas and malignant peripheral nerve sheath tumors within the field of treatment are substantially more common in NF1 patients with gliomas who are treated with radiotherapy [Kleinerman 2009, Madden et al 2014]. Transformation of a pilocytic astrocytoma to a more malignant brain tumor may also occur after radiatiotherapy in patients with NF1 [Krishnatry et al 2016].
Leukemia (especially juvenile chronic myelogenous leukemia) and myelodysplastic syndromes are infrequent in children with NF1 but much more common than in children without NF1. A variety of other tumors may also be seen more often than expected in individuals with NF1, including rhabdomyosarcomas [Crucis et al 2015], pheochromocytomas [Gorgel et al 2014], gastrointestinal stromal tumors [Andersson et al 2005, Takazawa et al 2005, Miettinen et al 2006, Gorgel et al 2014, Nishida et al 2016], glomus tumors [Harrison et al 2013, Kumar et al 2014], and retinal vasoproliferative tumors [Shields et al 2014]. Women with NF1 have a substantially increased risk of developing breast cancer before age 50 years [Madanikia et al 2012, Wang et al 2012, Seminog & Goldacre 2015] and of dying of breast cancer [Evans et al 2011]. People with NF1 may also be at increased risk for other cancers [Seminog & Goldacre 2013, Varan et al 2016].
#### Age of Onset of Manifestations
Many individuals with NF1 develop only cutaneous manifestations of the disease and Lisch nodules, but the frequency of more serious complications increases with age. Various manifestations of NF1 have different characteristic times of appearance [DeBella et al 2000b, Boulanger & Larbrisseau 2005, Williams et al 2009, Ferner et al 2011]. For example:
* Bony manifestations such as anteriolateral tibial bowing are congenital.
* Café au lait spots are often present at birth and increase in number during the first few years of life.
* Diffuse plexiform neurofibromas of the face and neck rarely appear after age one year, and diffuse plexiform neurofibromas of other parts of the body rarely develop after adolescence.
* Deep nodular plexiform neurofibromas may be seen at any age but are usually not symptomatic in childhood and often remain asymptomatic in adulthood.
* Optic gliomas develop in the first six years of life.
* The rapidly progressive (dysplastic) form of scoliosis almost always develops between ages six and ten years, although milder forms of scoliosis without vertebral anomalies typically occur during adolescence.
* Malignant peripheral nerve sheath tumors usually occur in adolescence or adulthood.
#### Growth
Individuals with NF1 tend to be below average in height and above average in head circumference for age [Clementi et al 1999, Szudek et al 2000a, Szudek et al 2000b, Virdis et al 2003, Karvonen et al 2013, Soucy et al 2013]. However, few individuals with NF1 have height more than 3 SD below the mean or head circumference more than 4 SD above the mean. People whose NF1 is caused by a deletion of the entire NF1 locus show a different pattern, with overgrowth (especially in height) between ages two and six years [Mautner et al 2010, Pasmant et al 2010, Kehrer-Sawatzki & Cooper 2012, Ning et al 2016]. The clinical features in some of these individuals resemble those of Weaver syndrome.
Pubertal development is usually normal, but precocious puberty may occur in children with NF1, especially in those with tumors of the optic chiasm [Virdis et al 2000, Kocova et al 2015]. Delayed puberty is also common [Virdis et al 2003].
#### Life Expectancy
The median life expectancy of individuals with NF1 is approximately eight years lower than in the general population [Evans et al 2011, Wilding et al 2012]. Malignancy (especially malignant peripheral nerve sheath tumors) and vasculopathy are the most important causes of early death in individuals with NF1 [Zöller et al 1995, Rasmussen et al 2001, Evans et al 2011, Masocco et al 2011].
#### Quality of Life
Quality of life assessments are lower in both children and adults with NF1 than in comparison groups [Vranceanu et al 2013, Merker et al 2014, Vranceanu et al 2015]. Cosmetic, medical, social, and behavioral features of the disease all may compromise the quality of life in people with NF1, and clinical depression may impair their ability to function effectively [Cohen et al 2015].
#### Imaging
Note: The value of performing routine head MRI scanning in individuals with NF1 at the time of diagnosis is controversial.
* Proponents state that such studies are useful in helping to establish the diagnosis in some individuals, in identifying any structural anomaly of the brain or skull, tumors, or vascular disease before it becomes clinically apparent in others, and in evaluating the context in which extracranial complications occur in still others.
* Those who oppose routine head MRI scanning point to the uncertain clinical significance of features such as UBOs ("unidentified bright objects"), the cost of such imaging, and the requirement for sedation in small children. Although clinical management should not be affected by the presence of intracranial lesions such as UBOs or optic nerve thickening in asymptomatic individuals with NF1, finding such lesions may result in regularly repeating the MRI for reassurance despite the continued absence of related symptoms, adding further to the cost as well as to the anxiety of the individual and family, without any benefit.
MRI is the method of choice for demonstrating the size and extent of plexiform neurofibromas [Mautner et al 2008, Cai et al 2009, Matsumine et al 2009, Van Meerbeeck et al 2009, Plotkin et al 2012, Hirbe & Gutmann 2014] and for monitoring their growth over time [Dombi et al 2007, Tucker et al 2009a, Nguyen et al 2012]. MRI is also useful in characterizing optic pathway gliomas, other brain tumors, structural abnormalities of the brain, and signs of cerebrovascular disease in people with NF1 [Cairns & North 2008, Rea et al 2009, Lin et al 2011, Prada et al 2015, Blanchard et al 2016, Sellmer et al 2017, Sellmer et al 2018]. MR angiography is valuable in assessing NF1 vasculopathy [D'Arco et al 2014]. Conventional radiographic studies can demonstrate the skeletal anomalies that occur in people with NF1 [Patel & Stacy 2012], but CT imaging or three-dimensional CT reconstructions may be necessary when surgical treatment of bony lesions is being planned. PET and CT/PET can help to distinguish benign and malignant peripheral nerve sheath tumors [Combemale et al 2014, Hirbe & Gutmann 2014, Salamon et al 2014, Chirindel et al 2015, Salamon et al 2015, Van Der Gucht et al 2016], but definitive differentiation can only be made by histologic examination of the tumor. CT/PET appears to be useful in guiding percutaneous biopsies of peripheral nerve sheath tumors suspected of being malignant [Brahmi et al 2015].
MRI studies have shown that people with NF1 have larger brains, on average, than people without NF1, but in NF1 gray matter volume is not correlated with IQ [Greenwood et al 2005, Margariti et al 2007, Karlsgodt et al 2012]. Enlargement of the corpus callosum is seen in some children with NF1 and has been associated with learning disabilities [Pride et al 2010, Aydin et al 2016]. More tortuosity of the optic nerve is seen on MRI in children with NF1 than in those without NF1, but optic nerve tortuosity is not associated with the occurrence of optic glioma among patients with NF1 [Ji et al 2013]. Diffusion tensor imaging has shown abnormalities of white matter microstructure, especially in the frontal lobes and corpus callosum [Ferraz-Filho et al 2012b, Karlsgodt et al 2012, Nicita et al 2014, Aydin et al 2016], and functional MRI studies have demonstrated altered connectivity in people with NF1 [Tomson et al 2015]. Individuals with NF1 also exhibit metabolic alterations in comparison to controls on magnetic resonance spectroscopy (MRS) [Nicita et al 2014, Rodrigues et al 2015].
The clinical significance of the so-called "unidentified bright objects" (UBOs) visualized on brain MRI in more than 50% of children with NF1 is uncertain [Sabol et al 2011, Friedrich & Nuding 2016, Sellmer et al 2018]. These hyperintense lesions seen on T2-weighted imaging may occur in the optic tracts, basal ganglia, brain stem, cerebellum, or cortex, and usually show no evidence of a mass effect. Typical UBOs are not seen on T1-weighted MRI imaging or on CT scan. UBOs show signs of intramyelinic edema on diffusion-weighted MRI [Ferraz-Filho et al 2012a, Ferraz-Filho et al 2012b, Billiet et al 2014, Ertan et al 2014] and MRS [Rodrigues et al 2015] and correspond pathologically to areas of spongiform myelinopathy [DiPaolo et al 1995]. They may disappear with age and are less common in adults than in children with NF1 [Payne et al 2014, Friedrich & Nuding 2016, Sellmer et al 2018].
The presence of UBOs does not appear to be related to the occurrence of seizures in children with NF1 [Hsieh et al 2011]. Some studies have suggested that the presence, number, volume, location, or disappearance of UBOs over time correlates with learning disabilities in children with NF1, but findings have not been consistent across investigations [Hyman et al 2007, Chabernaud et al 2009, Feldmann et al 2010, Payne et al 2014, Roy et al 2015].
### Genotype-Phenotype Correlations
NF1 is characterized by extreme clinical variability, not only between unrelated individuals and among affected individuals within a single family but even within a single person with NF1 at different times in life. Only a few clear correlations have been observed between particular pathogenic NF1 alleles and consistent clinical phenotypes [Shofty et al 2015]:
* NF1 whole-gene deletion is associated with large numbers and early appearance of cutaneous neurofibromas, more frequent and more severe cognitive abnormalities, somatic overgrowth, large hands and feet, and dysmorphic facial features [Mautner et al 2010, Pasmant et al 2010, Kehrer-Sawatzki & Cooper 2012].
* A 3-bp in-frame deletion of exon 17 (c.2970-2972 delAAT) (NF Consortium nomenclature; exon 22 of NCBI nomenclature) is associated with typical pigmentary features of NF1 but no cutaneous or surface plexiform neurofibromas [Upadhyaya et al 2007].
* Any one of several missense variants affecting NF1 codon Arg1809 (see Table 2) in exon 29 (NF Consortium nomenclature; exon 38 of NCBI nomenclature) is associated with multiple café au lait spots, learning disabilities, short stature, and pulmonic stenosis but absence of cutaneous neurofibromas or clinically apparent plexiform neurofibromas [Pinna et al 2015, Rojnueangnit et al 2015].
Persons with NF1 (including those with NF1/Noonan syndrome or Watson syndrome phenotypes) who also have pulmonic stenosis appear to have nontruncating NF1 variants more frequently than the truncating variants that are found more often in other persons with NF1 [Ben-Shachar et al 2013].
The consistent familial transmission of NF1 variants such as Watson syndrome (multiple café au lait spots, pulmonic stenosis, and intellectual disability) [Allanson et al 1991, Tassabehji et al 1993] and familial spinal neurofibromatosis [Upadhyaya et al 2009, Burkitt Wright et al 2013, Ruggieri et al 2015] also indicates that allelic heterogeneity plays a role in the clinical variability of NF1. Statistical analysis of the NF1 phenotype within and between families [Sabbagh et al 2009, Sabbagh et al 2013] and observations on 23 half-sibs fathered by a sperm donor with mosaic NF1 [Ejerskov et al 2016] suggest that the NF1 pathogenic allele itself accounts for only a small fraction of phenotypic variation. Differences in expression of the normal NF1 allele may account for some of the phenotypic variability [Jentarra et al 2012]. Statistical analysis of clinical features in affected families [Pasmant et al 2012] and studies of polymorphisms in putative epistatic loci [Pemov et al 2014] suggest that modifying genes at other loci influence many aspects of the NF1 phenotype.
The extreme clinical variability of NF1 suggests that random events are important in determining the phenotype of affected individuals. Evidence in support of this interpretation is provided by the occurrence of acquired "second hit" variants or loss of heterozygosity at the NF1 locus in some neurofibromas, malignant peripheral nerve sheath tumors, pheochromocytomas, astrocytomas, gastrointestinal stromal tumors, myeloid malignancies, mandibular giant cell granulomas, and glomus tumors from patients with NF1 [Upadhyaya et al 2012, Emmerich et al 2015]. NF1 loss of heterozygosity has also been observed in some instances in melanocytes grown from café au lait spots [Maertens et al 2007, De Schepper et al 2008], macronodular adrenal hyperplasia, and tissue associated with tibial pseudarthrosis [Kobus et al 2015] from patients with NF1 [Lee et al 2012, Paria et al 2014, Sant et al 2015].
It seems likely that the clinical variability of NF1 results from a combination of genetic, non-genetic, and stochastic factors. Such complexity and the diversity of constitutional NF1 pathogenic variants that occur in this disease will continue to make genotype-phenotype correlation difficult.
### Penetrance
Penetrance is virtually complete after childhood.
### Nomenclature
NF1 was previously referred to as peripheral neurofibromatosis, to distinguish it from NF2 (central neurofibromatosis) – although central nervous system involvement may also occur in NF1.
"Neurofibromatosis" without further specification is sometimes used in the literature to refer to NF1, but this usage is confusing because other authors employ the term "neurofibromatosis" to designate a group of conditions that includes (in addition to NF1) NF2, schwannomatosis, and other clinically similar disorders.
### Prevalence
NF1 is one of the most common dominantly inherited genetic disorders, occurring with an incidence at birth of approximately one in 3000 individuals [Lammert et al 2005, Evans et al 2010].
Almost half of all affected individuals have the disorder as the result of de novo mutation. The mutation rate for NF1 (~1:10,000) is among the highest known for any gene in humans. The cause of the unusually high mutation rate is unknown.
## Differential Diagnosis
More than 100 genetic conditions and multiple congenital anomaly syndromes that include café au lait spots or other individual features of neurofibromatosis 1 (NF1) have been described, but few of these disorders are ever confused with NF1.
Conditions most frequently confused with NF1
* Legius syndrome, an autosomal dominantly inherited condition that includes multiple café au lait spots, axillary freckling, macrocephaly, and, in some individuals, facial features that resemble Noonan syndrome [Brems et al 2012] caused by heterozygous pathogenic variants in SPRED1. Affected individuals may meet the diagnostic criteria for NF1, but Lisch nodules, neurofibromas, and central nervous system tumors do not usually occur. About 8% of children with six or more café au lait spots and no other clinical features of NF1 have Legius syndrome [Evans et al 2016]. Distinguishing Legius syndrome from NF1 is sometimes impossible on the basis of clinical features alone in a young child because the multiple cutaneous neurofibromas and Lisch nodules that characterize most patients with NF1 do not usually arise until later in childhood or adolescence. Examination of the parents for signs of Legius syndrome or NF1 may distinguish the two conditions, but in sporadic cases reevaluation of the patient after adolescence or molecular testing may be necessary to establish the diagnosis.
* Constitutional mismatch repair deficiency (OMIM 276300) associated with homozygosity or compound heterozygosity for a pathogenic variant in one of the genes causing Lynch syndrome [Wimmer et al 2017]. The cutaneous phenotype is remarkably similar to NF1, and affected individuals may meet the NIH diagnostic criteria for NF1. However, individuals homozygous for pathogenic variants associated with Lynch syndrome usually develop tumors that are typical of Lynch syndrome but with a younger age of onset than seen in Lynch syndrome heterozygotes. This condition is distinguishable from NF1 in that the parents are often consanguineous and one or both parents often have clinical findings and/or a family history of Lynch syndrome. Typically, neither parent has clinical findings of NF1. A pathogenic variant in NF1 is usually not demonstrable in the blood of these patients.
* Piebald trait (OMIM 172800), characterized by areas of cutaneous pigmentation and depigmentation with hyperpigmented borders of the unpigmented areas, and white forelock. Some individuals with this autosomal dominant condition meet the diagnostic criteria for NF1 [Stevens et al 2012].
* Neurofibromatosis 2 (NF2), characterized by bilateral vestibular schwannomas, schwannomas of other cranial and peripheral nerves, cutaneous schwannomas, meningiomas, and juvenile posterior subcapsular cataract. NF2 is genetically and clinically distinct from NF1. The disorder is caused by pathogenic variants in NF2 and inherited in an autosomal dominant manner.
* Schwannomatosis (multiple schwannomas of cranial, spinal or peripheral nerves, usually without vestibular, ocular or cutaneous features of NF2) [Merker et al 2012]
* Multiple café au lait spots (an autosomal dominant trait without other features of neurofibromatosis) (OMIM 114030). The families described have not been tested for SPRED1 pathogenic variants; thus it is not known if this condition is distinct from Legius syndrome, which has a similar phenotype.
* Noonan syndrome with multiple lentigines (NSML), an autosomal dominant disorder previously referred to as LEOPARD syndrome and characterized by multiple lentigines, ocular hypertelorism, deafness, and congenital heart disease. NSML is caused by a pathogenic variant in one of four genes (BRAF, MAP2K1, PTPN11, and RAF1).
* Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), characterized by large café au lait spots with irregular margins and polyostotic fibrous dysplasia. FD/MAS is the result of early embryonic postzygotic somatic activating mutation of GNAS. There are no verified instances of vertical transmission of FD/MAS.
* Noonan syndrome, an autosomal dominant disorder characterized by short stature, congenital heart defect, neck webbing, and characteristic facies. Noonan syndrome is caused by pathogenic variants in BRAF, KRAS, MAP2K1, NRAS, PTPN11, RAF1, RIT1, or SOS1. (A Noonan syndrome phenotype also occurs in ~12% of individuals with NF1 [Colley et al 1996]; see Genetically Related Disorders.)
* Infantile myofibromatosis (OMIM PS228550), an autosomal dominant condition characterized by multiple tumors of the skin, subcutaneous tissues, skeletal muscle, bones, and viscera.
* Proteus syndrome, characterized by hamartomatous overgrowth of multiple tissues, connective tissue nevi, epidermal nevi, and hyperostoses. A somatic mosaic AKT1 pathogenic variant has been identified in more than 90% of individuals meeting Proteus syndrome diagnostic criteria.
* Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face, and marfanoid habitus [Babovic-Vuksanovic et al 2012]
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with neurofibromatosis 1 (NF1), the following evaluations are recommended:
* Personal medical history with particular attention to features of NF1
* Physical examination with particular attention to the skin, skeleton, cardiovascular system, and neurologic systems
* Ophthalmologic evaluation including slit lamp examination of the irides and infrared reflectance imaging or optical coherence tomography of the fundus
* Developmental assessment in children
* Other studies as indicated on the basis of clinically apparent signs or symptoms
* Consultation with a clinical geneticist and/or genetic counselor
In addition, a family history with particular attention to features of NF1 should be obtained, and physical examinations and ophthalmologic examinations (including slit lamp exams and infrared reflectance imaging or optical coherence tomography of the fundus) should be performed on both parents to determine if the condition in the affected individual was inherited or occurred de novo. This determination is necessary for genetic counseling and may help identify patients who have a condition that is not caused by pathogenic variants in NF1, such as Legius syndrome or constitutive mismatch repair deficiency (see Differential Diagnosis).
### Treatment of Manifestations
The American Academy of Pediatrics and American College of Medical Genetics and Genomics (ACMG) have published patient management guidelines for children with NF1 [Miller et al 2019], and the ACMG has also published management guidelines for affected adults [Stewart et al 2018]. Similar recommendations have been made by other experts [Ferner & Gutmann 2013, Dunning-Davies & Parker 2016].
Individuals with NF1 who have abnormalities involving the eye, central or peripheral nervous system, spine or long bones, cardiovascular system, or endocrine system should be referred to an appropriate specialist for treatment. Malignant tumors that develop in individuals with NF1 should be managed by surgical and/or medical oncologists who are familiar with the unusual molecular oncogenic mechanisms and inherent tumor predispositions (e.g., with radiotherapy [Evans et al 2002, Sharif et al 2006]; see Agents/Circumstances to Avoid) that may be associated with this genetic condition.
Neurofibromas. Discrete cutaneous or subcutaneous neurofibromas that are disfiguring or in inconvenient locations (e.g., at belt or collar lines) can be removed surgically, or, if small, by laser or electrocautery.
* Surgical removal of individual cutaneous neurofibromas is generally straightforward, but the large numbers of such tumors that occur in many affected adults may limit the extent of treatment that is practical or possible. Laser ablation is a rapid and effective method of removing larger numbers of cutaneous neurofibromas with satisfactory cosmetic results [Kriechbaumer et al 2014, Rosenbaum & Wimmer 2014, Méni et al 2015].
* Surgical treatment of plexiform neurofibromas is often unsatisfactory because of their intimate involvement with nerves and their tendency to grow back at the site of removal [Prada et al 2012, Nguyen et al 2013a, Rosenbaum & Wimmer 2014, Safaee et al 2015, Safaee et al 2017].
* In one small series in which surgical removal of superficial plexiform neurofibromas was undertaken in children while the tumors were still relatively small, it was possible to resect the neurofibromas without producing any neurologic deficit [Friedrich et al 2005].
* Recommendations for clinical management of orbital/periorbital plexiform neurofibromas in children with NF1 have been made by a multidisciplinary expert task force [Avery et al 2017].
* Clinical trials for several different medical treatments of plexiform and spinal neurofibromas are currently under way [Blakeley & Plotkin 2016, Karajannis & Ferner 2015] (see Therapies Under Investigation).
* Radiotherapy of plexiform neurofibromas is contraindicated because of the risk of inducing malignant peripheral nerve sheath tumors in these genetically predisposed individuals [Evans et al 2002].
Malignant peripheral nerve sheath tumors. Pain, development of a neurologic deficit, or enlargement of a preexisting plexiform neurofibroma may signal a malignant peripheral nerve sheath tumor and require immediate evaluation [Valeyrie-Allanore et al 2005]. Examination by MRI, PET, or PET/CT [Combemale et al 2014, Hirbe & Gutmann 2014, Salamon et al 2015, Van Der Gucht et al 2016] is useful in distinguishing benign and malignant peripheral nerve sheath tumors, but definitive differentiation can only be made by histologic examination of the tumor. Complete surgical excision, when possible, is the only treatment that offers the possibility of cure of malignant peripheral nerve sheath tumors [Dunn et al 2013, Valentin et al 2016]. Adjuvant chemotherapy or radiotherapy is sometimes used as well and appears to have benefitted some (but not most) patients with NF1 [Chaudhary & Borker 2012, Zehou et al 2013, Valentin et al 2016]. Clinical trials for malignant peripheral nerve sheath tumors are currently under way [Karajannis & Ferner 2015] (see Therapies Under Investigation).
Optic gliomas. Optic gliomas tend to occur at a younger age but to follow a more benign course in children with NF1 than in children who do not have NF1 [Nicolin et al 2009, Stokland et al 2010, Goodden et al 2014]. Most optic pathway gliomas found on MRI in people with NF1 are asymptomatic and do not require treatment [Blanchard et al 2016, Friedrich & Nuding 2016, Parkhurst & Abboy 2016, Sellmer et al 2018]. Chemotherapy is the treatment of choice for progressive optic pathway gliomas in children with NF1, although the results are mixed [Rosenfeld et al 2010, Ardern-Holmes & North 2011, Fisher et al 2012, Shofty et al 2015]. Children with NF1 and low-grade progressive gliomas (most of which were located in the optic pathways) had better survival after treatment with carboplatin and vincristine than children with similar tumors who did not have NF1 [Ater et al 2016]. Surgical treatment of optic nerve glioma is usually reserved for cosmetic palliation in a blind eye, and radiotherapy is usually avoided because of the risk of inducing malignancy or moya-moya in the exposed field [Evans et al 2002, Ullrich et al 2007a, Murphy et al 2015]. Clinical trials for optic pathway gliomas are currently under way [Karajannis & Ferner 2015] (see Therapies Under Investigation).
Brain tumors. Non-optic gliomas in people with NF1 tend to follow a less aggressive course than in those who do not have NF1 [Ullrich et al 2007a, Sellmer et al 2017]. Most such tumors are asymptomatic, and they usually grow slowly or not at all over many years [Sellmer et al 2017].
Orthopedic issues. Dystrophic scoliosis in children with NF1 often requires surgical management, which may be complex and difficult [Stoker et al 2012, Kawabata et al 2013, Deng et al 2017]. Nondystrophic scoliosis in persons with NF1 can be treated in a manner similar to idiopathic scoliosis.
Surgical treatment of tibial pseudarthrosis is difficult and often unsatisfactory [Stevenson et al 2013, Borzunov et al 2016].
Bisphosphonate treatment may benefit patients with NF1 who have osteoporosis, but the effect may be smaller than is usually seen in patients who do not have NF1 [Heervä et al 2014].
Neurobehavioral problems. Methylphenidate treatment often benefits children with attention-deficit/hyperactivity disorder and NF1 [Lion-François et al 2014].
Breast cancer. Although women with NF1 who develop breast cancer tend to have more aggressive disease than other women, the author is not aware of any evidence or recommendations that they should be treated differently from others with similar pathology and tumor markers. The author is not aware of any secondary tumors related to radiotherapy for breast cancer in women with NF1; however, avoiding radiotherapy, if possible, is reasonable.
### Surveillance
The American Academy of Pediatrics and ACMG have published guidelines for surveillance of children with NF1 [Miller et al 2019], and the ACMG has published similar guidelines for affected adults [Stewart et al 2018]. Recommendations regarding surveillance of NF1 patients have also been made by other experts [Ferner & Gutmann 2013, Dunning-Davies & Parker 2016].
The following are recommended:
* Annual physical examination by a physician who is familiar with the individual and with the disease
* Annual ophthalmologic examination in early childhood; less frequent examination in older children and adults
* Regular developmental assessment by screening questionnaire (in childhood)
* Regular blood pressure monitoring
* Other studies (e.g., MRI) only as indicated on the basis of clinically apparent signs or symptoms
* Monitoring of those who have abnormalities of the central nervous system, skeletal system, or cardiovascular system by an appropriate specialist
Because of the increased risk of developing breast cancer before age 50 years among women with NF1 [Madanikia et al 2012, Wang et al 2012, Seminog & Goldacre 2015], US National Comprehensive Cancer Network Guidelines recommend that mammography be performed annually beginning at age 30 and that breast MRI be considered between ages 30 and 50 years in women with NF1 [Daly et al 2017]. However, the efficacy and cost-effectiveness of such screening have not yet been demonstrated [Howell et al 2017].
### Agents/Circumstances to Avoid
No limitations are necessary for most individuals with NF1. Limitations may be required if certain particular features such as tibial dysplasia or dysplastic scoliosis are present; in these instances the limitation is determined by the feature, not by the presence of NF1 itself.
Radiotherapy of individuals with NF1 appears to be associated with a high risk of developing malignant peripheral nerve sheath tumors within the field of treatment [Evans et al 2002, Sharif et al 2006].
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Although most pregnancies in women with NF1 are normal, serious complications can occur [Chetty et al 2011, Terry et al 2013].
* Many women with NF1 experience a rapid increase in the number and size of neurofibromas during pregnancy.
* Hypertension may first become symptomatic or, if preexisting, may be greatly exacerbated during pregnancy.
* Large pelvic or genital neurofibromas can complicate delivery, and cesarean section appears to be necessary more often in pregnant women with NF1 than in other women.
### Therapies Under Investigation
Various medical treatments for plexiform and spinal neurofibromas are being evaluated in clinical trials [Blakeley & Plotkin 2016, Karajannis & Ferner 2015]. A 20% or greater decrease in tumor volume was observed in 17 of 24 children with inoperable symptomatic or health-threatening plexiform neurofibromas who received long-term treatment with selumetinib, a MEK inhibitor, in a Phase I clinical trial [Dombi et al 2016]. Tumor progression did not occur in any case, and toxicity was considered to be acceptable in this trial (see Note).
Radiofrequency therapy has shown promise for treatment of facial diffuse plexiform neurofibromas and café au lait spots in small clinical series [Baujat et al 2006, Yoshida et al 2007].
Controlled trials of several therapeutic approaches to malignant peripheral nerve sheath tumors are available to individuals with NF1 [Karajannis & Ferner 2015] (see Note).
Several controlled trials for treatment of optic pathway gliomas are available to individuals with NF1 [Karajannis & Ferner 2015] (see Note).
Clinical trials have been undertaken for the learning and behavioral problems that occur in people with NF1 [Lion-François et al 2014, van der Vaart et al 2016] (see Note).
Note: NIH ClinicalTrials.gov has a list of current clinical trials for NF1.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
### Other
Hormonal contraception appears not to stimulate the growth of neurofibromas in women with NF1 [Lammert et al 2006].
*[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
|
Neurofibromatosis 1
|
c0027831
| 24,919 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1109/
| 2021-01-18T21:08:44 |
{"mesh": ["D009456"], "synonyms": ["NF1", "Von Recklinghausen Disease", "Von Recklinghausen's Neurofibromatosis"]}
|
A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.
## Epidemiology
Reliable prevalence figures have not been published but based on the number of known affected individuals in the United Kingdom and the Netherlands prevalence is estimated between 1/225 000-300 000
## Clinical description
The facial features are recognizable by a narrow forehead, thin lateral eyebrows, wide nasal bridge and ridge, broad nasal tip, prominent midface, full cheeks, wide mouth and thickened or overfolded helices of the ears. Half of the affected individuals have marked and early onset myopia and also squint is relatively common. Psychomotor development is disturbed from early on and severe with hypotonia, late-acquired unstable walking and complete or almost complete absence of language. Malformations of internal organs are uncommon. Severe constipation and gastro-esophageal reflux are common, and in 50% fingers are slender and demonstrate a single transverse palmar crease. Microcephaly is uncommon, and various types of seizures occur in 40% of affected individuals. Breathing disorders can appear during (early) childhood or adolescence and occur only when the patient is awake. Typically, the bouts of hyperventilation come without eliciting factor, have a duration of 2-5 minutes, and are often followed by apnea. Hyperventilation and apnea may also occur independently. Frequency is extremely variable. Underdevelopment of external and internal reproductive organs (small penis, cryptorchidism, labial fusions) occurs regularly in males and females.
## Etiology
The syndrome is caused by heterozygous, usually de novo mutations in the TCF4 gene (18q21), coding for a ubiquitous b-HLH transcription factor. Germline or low-grade parental mosaicism has been reported in 2-3% of published cases.
## Diagnostic methods
Diagnosis is based on clinical examination, and cytogenetic and molecular studies.
## Differential diagnosis
The principal differential diagnosis includes Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome.
## Antenatal diagnosis
Detection of the mutation by amniocentesis should be discussed with the parents of an index case during subsequent pregnancies.
## Genetic counseling
Transmission is autosomal dominant; however, most cases arise de novo and thus the risk of sibling recurrence is low. The empirical recurrence risk is 2%.
## Management and treatment
Management requires a lifelong multidisciplinary approach. Regular follow‐up by a pediatrician, neurologist, psychologist/psychiatrist, and speech therapist will have a major impact. Developmental assessments are needed to tailor medical services to each individual's needs. The use of syndrome‐specific information booklets is recommended for affected families and caregivers; adequate information regarding the breathing disturbances is especially important to avoid mismanagement.
## Prognosis
The course of the disease is non-progressive. Longitudinal data are insufficient to determine life expectancy, although survival into adulthood is typical and, at the present, there is no reason that life expectancy is limited. Autonomy is likely to be limited and affected individuals will probably require life-long support from caregivers.
* 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
|
Pitt-Hopkins syndrome
|
c1970431
| 24,920 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2896
| 2021-01-23T17:07:26 |
{"gard": ["4372"], "mesh": ["C537403"], "omim": ["610954"], "umls": ["C1970431"], "icd-10": ["Q87.0"]}
|
Subtype of acute myeloid leukaemia characterised by accumulation of promyelocytes
This article needs to be updated. Please update this article to reflect recent events or newly available information. (May 2015)
Acute promyelocytic leukemia
Bone marrow smear from a patient with acute promyelocytic leukemia, showing characteristic abnormal promyelocyte with multiple Auer rods
SpecialtyHematology and oncology
Acute promyelocytic leukemia (APML, APL) is a subtype of acute myeloid leukemia (AML), a cancer of the white blood cells.[1] In APL, there is an abnormal accumulation of immature granulocytes called promyelocytes. The disease is characterized by a chromosomal translocation involving the retinoic acid receptor alpha (RARα or RARA) gene and is distinguished from other forms of AML by its responsiveness to all-trans retinoic acid (ATRA; also known as tretinoin) therapy. Acute promyelocytic leukemia was first characterized in 1957[2][3] by French and Norwegian physicians as a hyperacute fatal illness,[1] with a median survival time of less than a week.[4] Today, prognoses have drastically improved; 10-year survival rates are estimated to be approximately 80-90% according to one study.[5][4][6]
## Contents
* 1 Signs and symptoms
* 2 Pathogenesis
* 3 Diagnosis
* 4 Treatment
* 4.1 Initial treatment
* 4.2 Maintenance therapy
* 4.3 Relapsed or refractory disease
* 4.4 Investigational agents
* 5 Prognosis
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
The symptoms tend to be similar to AML in general with the following being possible symptoms:[7]
* Anemia
* Fatigue
* Weakness
* Chills
* Depression
* Difficulty breathing (dyspnea)
* Low platelets (thrombocytopenia) leading to easy bleeding
* Fever
* Infection as a result of low neutrophils (neutropenia)
* Elevated white blood cells (leukocytosis)
* Coagulopathy (including DIC)
* Bicytopenia
Easy bleeding from low platelets may include:
* Bruising (ecchymosis)
* Gingival bleeding
* Nose bleeds (epistaxis)
* Increased menstrual bleeding (menorrhagia)
## Pathogenesis[edit]
Acute promyelocytic leukemia is characterized by a chromosomal translocation involving the retinoic acid receptor-alpha gene on chromosome 17 (RARA).[1] In 95% of cases of APL, retinoic acid receptor-alpha (RARA) gene on chromosome 17 is involved in a reciprocal translocation with the promyelocytic leukemia gene (PML) on chromosome 15, a translocation denoted as t(15;17)(q24;q21).[1] The RAR receptor is dependent on retinoic acid for regulation of transcription.[1]
Eight other rare gene rearrangements have been described in APL fusing RARA to promyelocytic leukemia zinc finger (PLZF also known as ZBTB16),[8] nucleophosmin (NPM1), nuclear matrix associated (NUMA1), signal transducer and activator of transcription 5b (STAT5B), protein kinase A regulatory subunit 1α (PRKAR1A), factor interacting with PAPOLA and CPSF1 (FIP1L1), BCL6 corepressor (BCOR) or oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A also known as NABP1) genes. Some of these rearrangements are ATRA-sensitive or have unknown sensitivity to ATRA because they are so rare; STAT5B/RARA and PLZF/RARA are known to be resistant to ATRA.[1]
The fusion of PML and RARA results in expression of a hybrid protein with altered functions. This fusion protein binds with enhanced affinity to sites on the cell's DNA, blocking transcription and differentiation of granulocytes. It does so by enhancing interaction of nuclear co-repressor (NCOR) molecule and histone deacetylase (HDAC). Although the chromosomal translocation involving RARA is believed to be the initiating event, additional mutations are required for the development of leukemia.[1]
RAR-α/PLZF gene fusion produces a subtype of APL that is unresponsive to tretinoin therapy and less responsive to standard anthracycline chemotherapy hence leading to poorer long-term outcomes in this subset of patients.[1]
## Diagnosis[edit]
Acute promyelocytic leukemia can be distinguished from other types of AML based on microscopic examination of the blood film or a bone marrow aspirate or biopsy as well as finding the characteristic rearrangement. The presence of promyelocytes containing multiple Auer rods (termed faggot cells) on the peripheral blood smear is highly suggestive of acute promyelocytic leukemia. Definitive diagnosis requires testing for the PML/RARA fusion gene. This may be done by polymerase chain reaction (PCR), fluorescent in situ hybridization (FISH), or conventional cytogenetics of peripheral blood or bone marrow. This mutation involves a translocation of the long arm of chromosomes 15 and 17. On rare occasions, a cryptic translocation may occur which cannot be detected by cytogenetic testing; on these occasions PCR testing is essential to confirm the diagnosis.[1]
## Treatment[edit]
### Initial treatment[edit]
Tretinoin
Mitozantrone
Methotrexate
APL is unique among leukemias due to its sensitivity to all-trans retinoic acid (ATRA; tretinoin), the acid form of vitamin A.[1] Treatment with ATRA dissociates the NCOR-HDACL complex from RAR and allows DNA transcription and differentiation of the immature leukemic promyelocytes into mature granulocytes by targeting the oncogenic transcription factor and its aberrant action.[1] Unlike other chemotherapies, ATRA does not directly kill the malignant cells.[1] ATRA induces the terminal differentiation of the leukemic promyelocytes, after which these differentiated malignant cells undergo spontaneous apoptosis on their own. ATRA alone is capable of inducing remission but it is short-lived in the absence of concurrent "traditional" chemotherapy.[1] As of 2013 the standard of treatment for concurrent chemotherapy has become arsenic trioxide, which combined with ATRA is referred to ATRA-ATO;[9][10] before 2013 the standard of treatment was anthracycline (e.g. daunorubicin, doxorubicin, idarubicin or mitoxantrone)-based chemotherapy. Both chemotherapies result in a clinical remission in approximately 90% of patients with arsenic trioxide having a more favorable side effect profile.[5]
ATRA therapy is associated with the unique side effect of differentiation syndrome.[11] This is associated with the development of dyspnea, fever, weight gain, peripheral edema and is treated with dexamethasone.[12] The etiology of retinoic acid syndrome has been attributed to capillary leak syndrome from cytokine release from the differentiating promyelocytes.[12]
The monoclonal antibody, gemtuzumab ozogamicin, has been used successfully as a treatment for APL,[13] although it has been withdrawn from the US market due to concerns regarding potential toxicity of the drug and it is not currently marketed in Australia, Canada or the UK.[13][14] Given in conjunction with ATRA, it produces a response in around 84% of patients with APL, which is comparable to the rate seen in patients treated with ATRA and anthracycline-based therapy.[13] It produces less cardiotoxicity than anthracycline-based treatments and hence may be preferable in these patients.[13]
### Maintenance therapy[edit]
After stable remission was induced, the standard of care previously was to undergo 2 years of maintenance chemotherapy with methotrexate, mercaptopurine and ATRA.[15] A significant portion of patients relapsed without consolidation therapy.[12] In the 2000 European APL study, the 2-year relapse rate for those that did not receive consolidation chemotherapy (ATRA not included) therapy was 27% compared to 11% in those that did receive consolidation therapy (p<0.01).[16] Likewise in the 2000 US APL study, the survival rates in those receiving ATRA maintenance was 61% compared to just 36% without ATRA maintenance.[17]
However, recent research on consolidation therapy following ATRA-ATO, which became the standard treatment in 2013, has found that maintenance therapy in low-risk patients following this therapy may be unnecessary, although this is controversial.[10]
### Relapsed or refractory disease[edit]
Arsenic trioxide (As2O3) is currently being evaluated for treatment of relapsed / refractory disease. Remission with arsenic trioxide has been reported.[18] Studies have shown arsenic reorganizes nuclear bodies and degrades the mutant PML-RAR fusion protein.[19] Arsenic also increases caspase activity which then induces apoptosis.[20] It does reduce the relapse rate for high risk patients.[21] In Japan a synthetic retinoid, tamibarotene, is licensed for use as a treatment for ATRA-resistant APL.[22]
### Investigational agents[edit]
Some evidence supports the potential therapeutic utility of histone deacetylase inhibitors such as valproic acid or vorinostat in treating APL.[23][24][25] According to one study, a cinnamon extract has effect on the apoptotic process in acute myeloid leukemia HL-60 cells.[26]
## Prognosis[edit]
Prognosis is generally good relative to other leukemias. Because of the acuteness of onset compared to other leukemias, early death is comparatively more common. If untreated, it has median survival of less than a month. It has been transformed from a highly fatal disease to a highly curable one. The cause of early death is most commonly severe bleeding, often intracranial hemorrhage. Early death from hemorrhage occurs in 5–10% of patients in countries with adequate access to healthcare and 20–30% of patients in less developed countries. Risk factors for early death due to hemorrhage include delayed diagnosis, late treatment initiation, and high white blood cell count on admission.[27] Despite advances in treatment, early death rates have remained relatively constant, as described by several groups including Scott McClellan, Bruno Medeiros, and Ash Alizadeh at Stanford University.[28]
Relapse rates are extremely low. Most deaths following remission are from other causes, such as second malignancies, which in one study occurred in 8% of patients. In this study, second malignancies accounted for 41% of deaths, and heart disease, 29%. Survival rates were 88% at 6.3 years and 82% at 7.9 years.[29]
In another study, 10-year survival rate was estimated to be approximately 77%.[5]
## Epidemiology[edit]
Acute promyelocytic leukemia represents 10–12% of AML cases.[13] The median age is approximately 30–40 years,[30] which is considerably younger than the other subtypes of AML (70 years). Incidence is higher among individuals of Latin American or South European origin.[31] It can also occur as a secondary malignancy in those that receive treatment with topoisomerase II inhibitors (such as the anthracyclines and etoposide) due to the carcinogenic effects of these agents, with patients with breast cancer representing the majority of such patients.[32][33][34] Around 40% of patients with APL also have a chromosomal abnormality such as trisomy 8 or isochromosome 17 which do not appear to impact on long-term outcomes.[1]
## References[edit]
1. ^ a b c d e f g h i j k l m n Kotiah, SD; Besa, EC (3 June 2013). Sarkodee-Adoo, C; Talavera, F; Sacher, RA; McKenna, R; Besa, EC (eds.). "Acute Promyelocytic Leukemia". Medscape Reference. WebMD. Retrieved 14 January 2014.
2. ^ Tallman MS, Altman JK (2008). "Curative strategies in acute promyelocytic leukemia". Hematology Am Soc Hematol Educ Program. 2008: 391–9. doi:10.1182/asheducation-2008.1.391. PMID 19074116.
3. ^ Hillestad, LK (November 1957). "Acute promyelocytic leukemia". Acta Med Scand. 159 (3): 189–94. doi:10.1111/j.0954-6820.1957.tb00124.x. PMID 13508085.
4. ^ a b Coombs, C. C.; Tavakkoli, M.; Tallman, M. S. (2015-04-17). "Acute promyelocytic leukemia: where did we start, where are we now, and the future". Blood Cancer Journal. 5 (4): e304. doi:10.1038/bcj.2015.25. PMC 4450325. PMID 25885425.
5. ^ a b c Adès, L; Guerci, A; Raffoux, E; Sanz, M; Chevallier, P; Lapusan, S; Recher, C; Thomas, X; Rayon, C; Castaigne, S; Tournilhac, O; de Botton, S; Ifrah, N; Cahn JY; Solary E; Gardin, C; Fegeux, N; Bordessoule, D; Ferrant, A; Meyer-Monard, S; Vey, N; Dombret, H; Degos, L; Chevret, S; Fenaux, P; European APL Group (March 2010). "Very long-term outcome of acute promyelocytic leukemia after treatment with all-trans retinoic acid and chemotherapy: the European APL Group experience" (PDF). Blood. 115 (9): 1690–1696. doi:10.1182/blood-2009-07-233387. PMID 20018913.[permanent dead link]
6. ^ C C, Coombs (17 April 2015). "Acute promyelocytic leukemia: where did we start, where are we now, and the future". Blood Cancer Journal. 5 (4): 304. doi:10.1038/bcj.2015.25. PMC 4450325. PMID 25885425.
7. ^ Kotiah, SD; Besa, EC (3 June 2013). Sarkodee-Adoo, C; Talavera, F; Sacher, RA; McKenna, R; Besa, EC (eds.). "Acute Promyelocytic Leukemia Clinical Presentation". Medscape Reference. WebMD. Retrieved 14 January 2014.
8. ^ Chen Z, Brand NJ, et al. (March 1993). "Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia". EMBO J. 12 (3): 1161–7. doi:10.1002/j.1460-2075.1993.tb05757.x. PMC 413318. PMID 8384553.
9. ^ Francesco Lo-Coco, M.D.; et al. (July 2013). "Retinoic Acid and Arsenic Trioxide for Acute Promyelocytic Leukemia". New England Journal of Medicine. 369 (2): 111–121. doi:10.1056/NEJMoa1300874. PMID 23841729.
10. ^ a b Cingam, Shashank R.; Koshy, Nebu V. (2018), "Cancer, Leukemia, Promyelocytic, Acute (APL, APML)", StatPearls, StatPearls Publishing, PMID 29083825, retrieved 2018-12-11, "Hence, ATRA-ATO for induction and consolidation has emerged as the new standard of care for patients with low-(to-intermediate) risk acute promyelocytic leukemia. ATRA-ATO therapy is also a reasonable choice for patients with severe comorbidities, older adults, patients with cardiac dysfunction who cannot tolerate anthracycline-based regimens or overall poor functional status. Maintenance therapy after the initial consolidation is widely debated. Maintenance may not be necessary for patients receiving intensive induction/consolidation including ATO."
11. ^ Breccia, M; Latagliata, R; Carmosino, I; Cannella, L; Diverio, D; Guarini, A; De Propris, MS; Petti, MC; Avvisati, G; Cimino, G; Mandelli, F; Lo-Coco, F (December 2008). "Clinical and biological features of acute promyelocytic leukemia patients developing retinoic acid syndrome during induction treatment with all-trans retinoic acid and idarubicin". Haematologica. 93 (12): 1918–20. doi:10.3324/haematol.13510. PMID 18945746.
12. ^ a b c Kotiah, SD; Besa, EC (3 June 2013). Sarkodee-Adoo, C; Talavera, F; Sacher, RA; McKenna, R; Besa, EC (eds.). "Acute Promyelocytic Leukemia Treatment & Management". Medscape Reference. WebMD. Retrieved 14 January 2014.
13. ^ a b c d e Ravandi, F; Estey, EH; Appelbaum, FR; Lo-Coco, F; Schiffer, CA; Larson, RA; Burnett, AK; Kantarjian, HM (November 2012). "Gemtuzumab Ozogamicin: Time to Resurrect?". Journal of Clinical Oncology. 30 (32): 3921–3923. doi:10.1200/JCO.2012.43.0132. PMC 4874205. PMID 22987091.
14. ^ Martindale: The Complete Drug Reference. Pharmaceutical Press. 23 September 2011.
15. ^ Kotiah, SD (28 October 2013). Anand, J; Braden, CD; Harris, JE (eds.). "Acute Promyelocytic Leukema Treatment Protocols". Medscape Reference. WebMD. Retrieved 14 January 2014.
16. ^ Fenaux, P; Chastang, C; Chevret, S; Sanz, M; Dombret, H; Archimbaud, E; Fey, M; Rayon, C; Huguet, F; Sotto, JJ; Gardin, C; Makhoul, PC; Travade, P; Solary, E; Fegueux, N; Bordessoule, D; Miguel, JS; Link, H; Desablens, B; Stamatoullas, A; Deconinck, E; Maloisel, F; Castaigne, S; Preudhomme, C; Degos, L (August 1999). "A Randomized Comparison of All Transretinoic Acid (ATRA) Followed by Chemotherapy and ATRA Plus Chemotherapy and the Role of Maintenance Therapy in Newly Diagnosed Acute Promyelocytic Leukemia" (PDF). Blood. 94 (4): 1192–1200. doi:10.1182/blood.V94.4.1192. PMID 10438706.[permanent dead link]
17. ^ Tallman, MS; Andersen, JW; Schiffer, CA; Appelbaum, FR; Feusner, JH; Woods, WG; Ogden, A; Weinstein, H; Shepherd, L; Willman, C; Bloomfield, CD; Rowe, JM; Wiernik, PH (December 2002). "All-transretinoic acid in acute promyelocytic leukemia: long-term outcome and prognostic factor analysis from the North American Intergroup protocol" (PDF). Blood. 100 (13): 4298–4302. doi:10.1182/blood-2002-02-0632. PMID 12393590.[permanent dead link]
18. ^ Soignet SL, Maslak P, Wang ZG, et al. (November 1998). "Complete remission after treatment of acute promyelocytic leukemia with arsenic trioxide". N. Engl. J. Med. 339 (19): 1341–8. doi:10.1056/NEJM199811053391901. PMID 9801394.
19. ^ Soignet,Complete Remission After Treatment of APL with Arsenic Trioxide 1998, 1346
20. ^ Soignet, 1998, 1347
21. ^ Arsenic Compound Improves Survival in Acute Promyelocytic Leukemia Patients . Sept 2007
22. ^ Miwako, I; Kagechika, H (August 2007). "Tamibarotene". Drugs Today (Barc). 43 (8): 563–568. doi:10.1358/dot.2007.43.8.1072615. PMID 17925887.
23. ^ Martens, JH; Brinkman, AB; Simmer, F; Francoijs, KJ; Nebbioso, A; Ferrara, F; Altucci, L; Stunnenberg, HG (February 2010). "PML-RARa/RXR Alters the Epigenetic Landscape in Acute Promyelocytic Leukemia" (PDF). Cancer Cell. 17 (2): 173–185. doi:10.1016/j.ccr.2009.12.042. PMID 20159609. Archived from the original (PDF) on 2013-03-15. Retrieved 2014-01-15.
24. ^ Leiva, M; Moretti, S; Soilihi, H; Pallavicini, I; Peres, L; Mercurio, C; Dal Zuffo, R; Minucci, S; de Thé, H (July 2012). "Valproic acid induces differentiation and transient tumor regression, but spares leukemia-initiating activity in mouse models of APL". Leukemia. 26 (7): 1630–1637. doi:10.1038/leu.2012.39. PMID 22333881.
25. ^ He LZ; Tolentino T; Grayson P; et al. (November 2001). "Histone deacetylase inhibitors induce remission in transgenic models of therapy-resistant acute promyelocytic leukemia". Journal of Clinical Investigation. 108 (9): 1321–1330. doi:10.1172/JCI11537. PMC 209432. PMID 11696577.
26. ^ Assadollahi V, Parivar K, Roudbari NH, Khalatbary AR, Motamedi M, Ezatpour B, Dashti GR (2013). "The effect of aqueous cinnamon extract on the apoptotic process in acute myeloid leukemia HL-60 cells". Adv Biomed Res. 2: 25. doi:10.4103/2277-9175.108001. PMC 3748636. PMID 23977653.
27. ^ Breccia, Massimo; Latagliata, Roberto; Cannella, Laura; Minotti, Clara; Meloni, Giovanna; Lo-Coco, Francesco (2010-05-01). "Early hemorrhagic death before starting therapy in acute promyelocytic leukemia: association with high WBC count, late diagnosis and delayed treatment initiation". Haematologica. 95 (5): 853–854. doi:10.3324/haematol.2009.017962. ISSN 0390-6078. PMC 2864399. PMID 20015875.
28. ^ McClellan, James Scott; Kohrt, Holbrook E.; Coutre, Steven; Gotlib, Jason R.; Majeti, Ravindra; Alizadeh, Ash A.; Medeiros, Bruno C. (2012-01-01). "Treatment advances have not improved the early death rate in acute promyelocytic leukemia". Haematologica. 97 (1): 133–136. doi:10.3324/haematol.2011.046490. ISSN 0390-6078. PMC 3248942. PMID 21993679.
29. ^ Shetty, Aditya Vittal; Ravandi, Farhad; Alapati, Naga; Borthakur, Gautam; Garcia-Manero, Guillermo; Kadia, Tapan M.; Wierda, William; Estrov, Zeev; Pierce, Sherry (2014-12-06). "Survivorship in APL- Outcomes of Acute Promyelocytic Leukemia (APL) Patients (pts) after Maintaining Complete Remission (CR) for at Least 3 Years". Blood. 124 (21): 954. doi:10.1182/blood.V124.21.954.954. ISSN 0006-4971.
30. ^ Schiffer, CA; Stone, RM (2000). "Chapter 124: Acute Myeloid Leukemia in Adults". In Bast, RC; Kufe, DW; Pollock, RE (eds.). Holland-Frei Cancer Medicine (5th ed.). Hamilton, ON: BC Decker. Retrieved 15 January 2014.
31. ^ Douer, D; Santillana, S; Ramezani, L; Samanez, C; Slovak, ML; Lee, MS; Watkins, K; Williams, T; Vallejos, C (August 2003). "Acute promyelocytic leukaemia in patients originating in Latin America and is associated with an increased frequency of the bcr1 subtype of the PML/RARalpha fusion gene". British Journal of Haematology. 122 (4): 563–70. doi:10.1046/j.1365-2141.2003.04480.x. PMID 12899711.
32. ^ Ravandi, F (April 2011). "Therapy-related acute promyelocytic leukemia". Haematologica. 96 (4): 493–495. doi:10.3324/haematol.2011.041970. PMC 3069223. PMID 21454880.
33. ^ Elliott, MA; Letendre, L; Tefferi, A; Hogan, WJ; Hook, C; Kaufmann, SH; Pruthi, RK; Pardanani, A; Begna, KH; Ashrani, AA; Wolanskyj, AP; Al-Kali, A; Litzow, MR (March 2012). "Therapy-related acute promyelocytic leukemia: observations relating to APL pathogenesis and therapy". European Journal of Haematology. 88 (3): 237–243. doi:10.1111/j.1600-0609.2011.01727.x. PMID 22023492.
34. ^ Rashidi, A; Fisher, SI (2013). "Therapy-related acute promyelocytic leukemia: a systematic review". Medical Oncology. 30 (3): 625. doi:10.1007/s12032-013-0625-5. PMID 23771799.
## External links[edit]
Classification
D
* ICD-10: C92.4
* ICD-9-CM: 205.0
* ICD-O: M9866/3
* OMIM: 102578
* MeSH: D015473
* DiseasesDB: 34779
* SNOMED CT: 28950004
External resources
* eMedicine: med/34
* Orphanet: 520
* Management of acute promyelocytic leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. 2008
* Adult Acute Myeloid Leukemia Treatment (PDQ®)
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[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
|
Acute promyelocytic leukemia
|
c0023487
| 24,921 |
wikipedia
|
https://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia
| 2021-01-18T18:36:47 |
{"gard": ["538"], "mesh": ["D015473"], "umls": ["C0023487"], "orphanet": ["520"], "wikidata": ["Q612108"]}
|
Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency or instability of the hip and knee joint often are also present and effect treatment options for each person. Various systems for classifying CFD have been proposed. Some experts classify CFD according to radiological appearance, while others classify CFD according to factors that affect options for treatment.
The underlying cause of CFD typically is not known, but it does not appear to be inherited. Researchers suspect it is caused by a disruption during early prenatal development, which may occur randomly or as a result of an environmental factor such as infection or trauma. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.
Management of CFD requires a multidisciplinary team of specialists, which may include a pediatric orthopedic surgeon, prosthetist, and physical therapist. The main goal of treatment is to maximize function and mobility. Due to the range of severity and potential abnormalities affecting other bones or joints, there is no single treatment approach that applies to all cases. However, almost all people with CFD will need some combination of non-surgical, surgical, and orthotic treatment. Examples of possible surgical treatment options include reconstruction and limb-lengthening in those with reconstructable hip and knee joints, and amputation and/or rotationplasty for use of a 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
|
Congenital femoral deficiency
|
c0345375
| 24,922 |
gard
|
https://rarediseases.info.nih.gov/diseases/1503/congenital-femoral-deficiency
| 2021-01-18T18:01:09 |
{"umls": ["C0345375"], "orphanet": ["1987"], "synonyms": ["Congenital short femur (subtype)", "Proximal femoral focal deficiency (subtype)"]}
|
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can also occur in this disorder, and may cause pinching (compression) of the spinal cord. As a result, affected individuals may experience neurological symptoms including pain, tingling, numbness, coordination problems, weakness, and paralysis. In severe cases, the spinal cord compression may lead to paralysis of the muscles needed for breathing, which can be life-threatening during early childhood.
Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest and a rounded upper back that also curves to the side (kyphoscoliosis). Without surgical correction, the kyphoscoliosis can constrict the lungs and cause difficulty breathing. People with anauxetic dysplasia can also have an exaggerated curvature of the lower back (hyperlordosis), dislocation of the hips, and soles of the feet that are rounded outward (rocker-bottom feet).
Typical facial features in anauxetic dysplasia include closely spaced eyes (hypotelorism), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin (prognathism). Affected individuals can also have fewer teeth than normal (hypodontia).
## Frequency
Anauxetic dysplasia is a very rare disorder; its prevalence is unknown.
## Causes
Anauxetic dysplasia can be caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. Several proteins attach (bind) to this RNA molecule, forming an enzyme complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP.
The RNase MRP enzyme is thought to be involved in several important functions in the cell, including processing ribosomal RNA. This form of RNA is associated with cell structures called ribosomes, which assemble protein building blocks (amino acids) into proteins.
The RMRP gene mutations that cause anauxetic dysplasia alter the noncoding RNA produced from the gene, and the RNase MRP enzyme containing the altered noncoding RNA is impaired in its ribosomal RNA processing function. Although the specific mechanism is unknown, impairment of this function likely disrupts skeletal development, leading to the signs and symptoms of anauxetic dysplasia.
Mutations in at least one gene that provides instructions for making a protein component of the RNase MRP enzyme complex can also cause anauxetic dysplasia.
### Learn more about the gene associated with Anauxetic dysplasia
* RMRP
Additional Information from NCBI Gene:
* POP1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of 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
|
Anauxetic dysplasia
|
c1846796
| 24,923 |
medlineplus
|
https://medlineplus.gov/genetics/condition/anauxetic-dysplasia/
| 2021-01-27T08:24:44 |
{"gard": ["9657"], "mesh": ["C538256"], "omim": ["607095", "617396"], "synonyms": []}
|
Cleft lip; A multifactorial disorder
Multifactorial diseases are not confined to any specific pattern of single gene inheritance and are likely to be associated with multiple genes effects together with the effects of environmental factors.[1]
In fact, the terms ‘multifactorial’ and ‘polygenic’ are used as synonyms and these terms are commonly used to describe the architecture of disease causing genetic component.[2] Although multifactorial diseases are often found gathered in families yet, they do not show any distinct pattern of inheritance. It is difficult to study and treat multifactorial diseases because specific factors associated with these diseases have not yet been identified. Some common multifactorial disorders include schizophrenia, diabetes, asthma, depression, high blood pressure, Alzheimer’s, obesity, epilepsy, heart diseases, Hypothyroidism, club foot and even dandruff.
The Multifactorial threshold model[3] assumes that gene defects for multifactorial traits are usually distributed within populations. Firstly, different populations might have different thresholds. This is the case in which occurrences of a particular disease is different in males and females (e.g. Pyloric stenosis). The distribution of susceptibility is the same but threshold is different. Secondly, threshold may be same but the distributions of susceptibility may be different. It explains the underlying risks present in first degree relatives of affected individuals.
## Contents
* 1 Characteristics
* 2 Risk Factors
* 3 Multifactorial Disorders; Continuous or Discontinuous
* 4 History
* 5 See also
* 6 References
## Characteristics[edit]
Multifactorial disorders exhibit a combination of distinct characteristics which are clearly differentiated from Mendelian inheritance.
* The risk of multifactorial diseases may get increased due to environmental influences.
* The disease is not sex-limited but it occurs more frequently in one gender than the other.
* The disease occurs more commonly in a distinct ethnic group (i.e., Africans, Asians, Caucasians etc.)
* The diseases may have more in common than generally recognized since similar risk factors are associated with multiple diseases
* The recurrence risk of such disorders is greater among relatives of an affected individual than in the common population. Additionally, the risk is higher in first degree relatives of an affected individual than distant relatives.
* Multifactorial disorders also reveal increased concordance for disease in monozygotic twins as compared to dizygotic twins or full siblings.[4]
## Risk Factors[edit]
The risk for multifactorial disorders is mainly determined by universal risk factors. Risk factors are divided into three categories; genetic, environmental and complex factors (for example overweight).
Genetic risk factors are associated with the permanent changes in the base pair sequence of human genome. In the last decade, many studies have been generated data regarding genetic basis of multifactorial diseases. Various polymorphism have been shown to be associated with more than one disease, examples include polymorphisms in TNF-a, TGF-b and ACE genes.[5][6][7]
Environmental risk factors vary from events of life to medical interventions. The quick change in the patterns of morbidity, within one or two generations, clearly demonstrates the significance of environmental factors in the development and reduction of multifactorial disorders.[8] Environmental risk factors include change in life style (diet, physical activity, stress management) and medical interventions (surgery, drugs).
Many risk factors originate from the interactions between genetic and environmental factors and referred as complex risk factors. Examples include epigenetic changes, body weight and plasma cortisol level.[9]
## Multifactorial Disorders; Continuous or Discontinuous[edit]
Autosomal or sex-linked single gene conditions generally produce distinct phenotypes, said to be discontinuous: the individual either has the trait or does not. However, multifactorial traits may be discontinuous or continuous.
Continuous traits exhibit normal distribution in population and display a gradient of phenotypes while discontinuous traits fall into discrete categories and are either present or absent in individuals. It is interesting to know that many disorders arising from discontinuous variation show complex phenotypes also resembling continuous variation [10] This occurs due to the basis of continuous variation responsible for the increased susceptibility to a disease. According to this theory, a disease develops after a distinct liability threshold is reached and severity in the disease phenotype increases with the increased liability threshold. On the contrary, disease will not develop in the individual who does not reach the liability threshold. Therefore, an individual either having disease or not, the disease shows discontinuous variation.
An example of how the liability threshold works can be seen in individuals with cleft lip and palate. Cleft lip and palate is a birth defect in which an infant is born with unfused lip and palate tissues. An individual with cleft lip and palate can have unaffected parents who do not seem to have a family history of the disorder.
## History[edit]
Francis Galton was the first scientist who studied multifactorial diseases and was the cousin of Charles Darwin. Major focus of Galton was on ‘inheritance of traits’ and he observed “blending” characters.[11] The average contribution of each several ancestor to the total heritage of the offspring [12] and is now known as continuous variation. When a trait (human height) exhibiting continuous variation is plotted against a graph, the majority of population distribution is centered around the mean. [13] Galton’s work is contrary to work done by Gregor Mendel; as the latter studied “nonblending” traits and kept them in different categories.[14] The traits exhibiting discontinuous variation, occur in two or more distinct forms in a population as Mendel found in color of petals.
## See also[edit]
* Genetic disorders
* polygenes
* Quantitative trait locus
## References[edit]
1. ^ Duarte, Christine W.; Vaughan, Laura K.; Beasley, T. Mark; Tiwari, Hemant K. (2013), "Multifactorial Inheritance and Complex Diseases", Emery and Rimoin's Principles and Practice of Medical Genetics, Elsevier, pp. 1–15, doi:10.1016/b978-0-12-383834-6.00014-8, ISBN 978-0-12-383834-6
2. ^ Plomin, Robert; Haworth, Claire M. A.; Davis, Oliver S. P. (2009-10-27). "Common disorders are quantitative traits". Nature Reviews Genetics. 10 (12): 872–878. doi:10.1038/nrg2670. ISSN 1471-0056. PMID 19859063.
3. ^ "11. Multifactorial Inheritance". www2.med.wayne.edu. Retrieved 2020-04-01.
4. ^ Korf, Bruce R.; Sathienkijkanchai, Achara (2009), "Introduction to Human Genetics", Clinical and Translational Science, Elsevier, pp. 265–287, doi:10.1016/b978-0-12-373639-0.00019-4, ISBN 978-0-12-373639-0
5. ^ Sayed-Tabatabaei, F.A.; Oostra, B.A.; Isaacs, A.; van Duijn, C.M.; Witteman, J.C.M. (2006-05-12). "ACE Polymorphisms". Circulation Research. 98 (9): 1123–1133. doi:10.1161/01.res.0000223145.74217.e7. ISSN 0009-7330. PMID 16690893.
6. ^ Neil, Jason R; Galliher, Amy J; Schiemann, William P (April 2006). "TGF-β in cancer and other diseases". Future Oncology. 2 (2): 185–189. doi:10.2217/14796694.2.2.185. ISSN 1479-6694. PMID 16563087.
7. ^ Russo, Cristina; Polosa, Riccardo (2005-07-25). "TNF-α as a promising therapeutic target in chronic asthma: a lesson from rheumatoid arthritis". Clinical Science. 109 (2): 135–142. doi:10.1042/cs20050038. ISSN 0143-5221. PMID 16033328.
8. ^ Pereira, Mark A; Kartashov, Alex I; Ebbeling, Cara B; Van Horn, Linda; Slattery, Martha L; Jacobs, David R; Ludwig, David S (January 2005). "Fast-food habits, weight gain, and insulin resistance (the CARDIA study): 15-year prospective analysis". The Lancet. 365 (9453): 36–42. doi:10.1016/s0140-6736(04)17663-0. ISSN 0140-6736. PMID 15639678.
9. ^ Scherer, Stephen (2005-08-01). "Faculty of 1000 evaluation for Epigenetic differences arise during the lifetime of monozygotic twins". doi:10.3410/f.1026838.326638. Cite journal requires `|journal=` (help)
10. ^ Carpenter, Geoffrey (December 1982). "Copeland, John G. et al. Telemundo: A Basic Reader. New York: Random House, Inc., 1980; Freeman, G. Ronald. Intercambios: An Activities Manual. New York: Random House, Inc., 1980Copeland, John G. et al. Telemundo: A Basic Reader. New York: Random House, Inc., 1980. Pp. 264.Freeman, G. Ronald. Intercambios: An Activities Manual. New York: Random House, Inc., 1980. Pp. 209". Canadian Modern Language Review. 38 (2): 361a–362. doi:10.3138/cmlr.38.2.361a. ISSN 0008-4506.
11. ^ "The average contribution of each several ancestor to the total heritage of the offspring". Proceedings of the Royal Society of London. 61 (369–377): 401–413. 1897-12-31. doi:10.1098/rspl.1897.0052. ISSN 0370-1662.
12. ^ "The average contribution of each several ancestor to the total heritage of the offspring". Proceedings of the Royal Society of London. 61 (369–377): 401–413. 1897-12-31. doi:10.1098/rspl.1897.0052. ISSN 0370-1662.
13. ^ Mossey, P. A. (June 1999). "The Heritability of Malocclusion: Part 1—Genetics, Principles and Terminology". British Journal of Orthodontics. 26 (2): 103–113. doi:10.1093/ortho/26.2.103. ISSN 0301-228X. PMID 10420244.
14. ^ Olby, Robert C. (October 2000). "Horticulture: the font for the baptism of genetics". Nature Reviews Genetics. 1 (1): 65–70. doi:10.1038/35049583. ISSN 1471-0056. PMID 11262877.
*[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
|
Multifactorial diseases
|
c1837655
| 24,924 |
wikipedia
|
https://en.wikipedia.org/wiki/Multifactorial_diseases
| 2021-01-18T18:33:27 |
{"umls": ["C1837655"], "wikidata": ["Q3281220"]}
|
Porcine epidemic diarrhoea
SymptomsSevere gastrointestinal disease
CausesPorcine epidemic diarrhea virus
Diagnostic methodImmunofluorescence or immunohistochemistry
PreventionDisinfection
TreatmentSymptomatic
DeathsRare
Porcine epidemic diarrhea is a condition caused by the porcine epidemic diarrhea virus that leads to severe gastrointestinal disease in pigs.
It is closely related to the agent responsible for transmissible gastroenteritis in pigs. Piglets are most susceptible to the disease, as are young adults during periods of stress. Transmission is via the fecal-oral route.
## Clinical signs and diagnosis[edit]
In adult swine, the disease is very mild and mortality is rare. The primary signs are a watery diarrhea and mild systemic signs such as pyrexia, anorexia and lethargy.
Diagnosis is via immunofluorescence or immunohistochemistry, and ELISA can detect antigen or antibodies.
## Treatment and control[edit]
Treatment is symptomatic and aims to prevent dehydration in young pigs, using products such as electrolyte and energy supplements. Good biosecurity protocols such as adequate quarantine, isolation of cases, and disinfection help prevent entry or spread of the disease in the herd. In Canada, the Canadian Swine Health Board developed detailed protocols on how to adequately disinfect transportation vehicles for live hogs and ensure the quality of the disinfection protocol.
## References[edit]
* Porcine Epidemic Diarrhoea expert reviewed and published by WikiVet accessed 09/10/2011.
* Porcine Epidemic Diarrhea - Merck Veterinary Manual
This veterinary medicine–related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This virus-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
|
Porcine epidemic diarrhoea
|
None
| 24,925 |
wikipedia
|
https://en.wikipedia.org/wiki/Porcine_epidemic_diarrhoea
| 2021-01-18T18:27:59 |
{"wikidata": ["Q7229999"]}
|
Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics.
*[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
|
Kartagener syndrome
|
c0022521
| 24,926 |
gard
|
https://rarediseases.info.nih.gov/diseases/6815/kartagener-syndrome
| 2021-01-18T17:59:37 |
{"mesh": ["D007619"], "umls": ["C0022521"], "orphanet": ["98861"], "synonyms": ["Dextrocardia bronchiectasis and sinusitis", "Siewert syndrome", "Immotile cilia syndrome, Kartagener type", "Primary ciliary dyskinesia, Kartagener type", "Dextrocardia-bronchiectasis-sinusitis syndrome", "Primary ciliary dyskinesia and situs inversus"]}
|
A number sign (#) is used with this entry because of evidence that spondylo-megaepiphyseal-metaphyseal dysplasia is caused by homozygous inactivating mutations in the NKX3-2 gene (602183) on chromosome 4p15.
Description
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).
Clinical Features
Silverman and Reiley (1985) suggested the designation spondylo-megaepiphyseal-metaphyseal dysplasia for a novel disorder that they identified in 8 patients. The disorder showed some resemblance to severe cleidocranial dysplasia (CCD; 119600) but lacked the cranial and clavicular features of that disorder. The patients reported by Silverman and Reiley (1985) had markedly defective vertebral body ossification, and the ossification centers of the tubular bones were grossly enlarged. A 9-year-old patient pictured by Silverman and Reiley (1985) showed short-trunk, long-limb dwarfism and genu varum. Radiographs showed disturbed modeling, metaphyseal dysplasia, and ballooning of epiphyseal ossification centers. The clavicles were normal and streaking of femoral metaphyses resembled that seen in enchondromatosis. Radiograph of the upper trunk showed that pedicles and unfused laminae were clear because of small or absent ossification centers for the vertebral bodies, and there was an enchondroma-like enlargement of the costochondral junctions on ribs 5-7. Radiograph of the pelvis showed lack of vertebral body centers indistinguishable from that of severe CCD. Films of the hand showed that carpal ossification centers were markedly retarded while expanded metacarpal and phalangeal centers were well advanced. In addition, there were multiple large pseudoepiphyses.
Agarwal et al. (2003) reported a 10-year-old boy, offspring of consanguineous Indian parents, with SMMD.
Hellemans et al. (2009) described 3 additional families with SMMD. Each family was consanguineous and had 2 affected sibs. Hellemans et al. (2009) noted that all reported patients, with the exception of 1 affected boy, had normal intelligence. The most striking features on radiographs are the little or no ossification of vertebral bodies and the presence of large epiphyseal ossification centers that are separated by wide cartilage zones from the adjacent and irregular metaphyses. The defective ossification in the axial skeleton mostly involves the vertebral bodies with preservation of the pedicles and neural arches that are often unfused posteriorly. Pelvic abnormalities include delayed ossification of the pubic bones, wide triradiate cartilages, and coxa vara with large capital femoral epiphyses. The ribs are usually short and appear to originate remotely from the vertebral column. Multiple pseudoepiphyses in the hands and feet are often observed and may suggest a disturbance in the determination of proximal-distal polarity in tubular bones.
Simsek-Kiper et al. (2019) reported a newborn boy, born to healthy Turkish parents who were not known to be related but came from the same Turkish village. At birth, the baby required immediate intubation for respiratory distress. He had relative macrocephaly, with a broad forehead, micrognathia, short neck and trunk with relatively long extremities, right inguinal hernia, and left cryptorchidism. The patient also had bilateral pes equinovarus deformity and flexion contractures of the distal joints. The thorax was short and broad. Skeletal survey revealed total absence of ossification of the vertebral bodies, pubis, and ischia. The femurs were short and broad with mildly flared metaphyses. SMMD was diagnosed, based on clinical and radiographic findings. The boy also had duodenal atresia; following surgical repair, he developed sepsis and respiratory failure and died at 14 days of life. No neuroradiologic imaging was performed, but the findings of clubfoot, neuromuscular respiratory insufficiency requiring mechanical ventilation, and downward sloping appearance of the ribs suggested early cervical cord compression leading to early mortality. The authors noted that early diagnosis of SMMD might prevent neurologic complications secondary to early cervical cord compression.
Inheritance
Recurrence in sibs and parental consanguinity suggested an autosomal recessive mode of inheritance of SMMD (Silverman and Reiley, 1985), which was confirmed by Hellemans et al. (2009).
Mapping
Hellemans et al. (2009) performed a whole-genome homozygosity mapping analysis in 2 of their families segregating SMMD and found 2 candidate intervals on chromosome 4 located between 11.2 Mb to 14.5 Mb and between 21.0 Mb to 37.2 Mb, respectively. Analysis of 13 microsatellite markers across both regions in all available family members suggested linkage to the smaller interval. Because of the low inherent power of the investigated families, no significant lod scores could be obtained. The high resolution of the analysis, however, allowed narrowing to the interval between rs11722485 and microsatellite marker D4S1602. This region contained several known genes, including NKX3-2 (602183), which was selected as a good candidate because its murine homolog was demonstrated to be essential for proper axial skeletogenesis.
Molecular Genetics
In affected members of 3 families segregating SMMD, Hellemans et al. (2009) identified homozygous inactivating mutations in the NKX3-2 gene (602183.0001-602183.0003). Hellemans et al. (2009) concluded that identification of homozygous inactivating mutations in the NKX3-2 gene underscores the crucial role of this homeobox-containing protein in ossification of the human vertebral column. The presence of mega- and pseudoepiphyses with wide growth plates in tubular bones of SMMD patients confirms the more generalized role of NKX3-2 in endochondral ossification of both the axial and appendicular skeletal elements.
In a newborn boy with SMMD, Simsek-Kiper et al. (2019) identified homozygosity for an inactivating mutation in the NKX3-2 gene (602183.0004). The mutation, which was found by Sanger sequencing, was present in heterozygosity in his parents.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Macrocephaly Eyes \- Hypertelorism Neck \- Short neck \- Limited mobility CHEST Ribs Sternum Clavicles & Scapulae \- Short ribs \- Ribs are widely separated from vertebral column ABDOMEN External Features \- Protuberant abdomen (secondary to skeletal dysplasia) SKELETAL Spine \- Absent vertebral body ossification Pelvis \- Delayed pubic bone ossification \- Widened triradiate cartilage \- Coxa vara \- Large capital femoral epiphyses \- Hypoplastic ilia Limbs \- Large epiphyses (megaepiphyses) \- Irregular metaphyses \- Pseudoepiphyses \- Contractures \- Large epiphyses \- Genu varum \- Genu valgum Hands \- Delayed carpal bone ossification \- Pseudoepiphyses in metacarpal bones Feet \- Pseudoepiphyses MISCELLANEOUS \- Mutations result in inactivation of NKX3-2 ( 602183 ) MOLECULAR BASIS \- Caused by mutation in the homolog of the Drosophila bagpipe homeobox gene (NKX3-2, 602183.0001 ) ▲ 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
|
SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
|
c2750066
| 24,927 |
omim
|
https://www.omim.org/entry/613330
| 2019-09-22T15:59:02 |
{"mesh": ["C567639"], "omim": ["613330"], "orphanet": ["228387"]}
|
Crome syndrome
Other namesCataract-nephropathy-encephalopathy syndrome[1]
SpecialtyNeurology
Crome syndrome is a rare disease defined by various symptoms, including epilepsy, intellectual disability, eye and kidney problems. It usually causes death in 4 to 8 months.[2]
## History[edit]
In 1963, a doctor studied two female infants who showed symptoms of mental retardation, congenital cataracts, epileptic fits and small stature. The two girls died at the age of 4 and 8 months. The autopsy revealed renal tubular necrosis and encephalopathy.[3]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Cataract nephropathy encephalopathy syndrome". www.orpha.net. Retrieved 29 June 2019.
2. ^ "Crome syndrome". WrongDiagnostics.com. Retrieved 2009-04-02.
3. ^ "Crome syndrome". Johns Hopkins University. Retrieved 2009-04-02.
## External links[edit]
Classification
D
* ICD-10: Q87.8
* OMIM: 218900
* MeSH: C536216
External resources
* Orphanet: 1380
This article about a medical condition affecting the nervous 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
|
Crome syndrome
|
c0795914
| 24,928 |
wikipedia
|
https://en.wikipedia.org/wiki/Crome_syndrome
| 2021-01-18T18:29:17 |
{"gard": ["1614"], "mesh": ["C536216"], "umls": ["C0795914"], "orphanet": ["1380"], "wikidata": ["Q5187584"]}
|
Peri-implantitis is a destructive inflammatory process affecting the soft and hard tissues surrounding dental implants.[1] The soft tissues become inflamed whereas the alveolar bone (hard tissue), which surrounds the implant for the purposes of retention, is lost over time. The bone loss involved in peri-implantitis differentiates this condition from peri-mucositis, a reversible inflammatory reaction involving only the soft tissues around the implant.[2][3][4]
A radiograph 2 years after implant placement, then 7 years later in a heavy smoker, demonstrating progression of bone loss due to peri-implantitis.
## Contents
* 1 Signs and Symptoms
* 1.1 Bone loss
* 1.2 Probing
* 2 Causes & Pathology
* 3 Risk Factors
* 3.1 Risk factors
* 3.2 Potential risk factors
* 4 Peri-implantitis vs Peri-implant mucositis
* 5 Prevention
* 6 Treatment
* 6.1 Mechanical debridement
* 6.2 Antiseptic treatment
* 6.3 Antibiotic treatment
* 6.4 Surgical treatment
* 7 Current Research
* 8 References
## Signs and Symptoms[edit]
Peri-implantitis does not present in the same way for all patients.[4] Patients are recommended to regularly attend dental appointments and to seek advice from their dentist if they have any concerns for their oral health.[5]
Before the signs and symptoms are explained, it is worth noting that healthy peri-implant tissue should not be swollen, bleeding, producing pus, or have a reddened appearance.[2]
From a patient's perspective, he/she may notice loosening or wobbling of the implant.[5] This symptom does not usually present at the early stages of peri-implantitis as the implant will still be fused to bone at its deeper aspects.[4][6] It is more likely that the patient will notice bleeding whilst brushing their teeth. A patient may also notice swelling around the implant, bad breath and/or foul taste.[5]
Clinically, peri-implantitis involves both inflammation of soft tissues and destruction of bone, therefore, there is usually evidence of both bone loss (assessed by a radiograph) and bleeding when nearby tissues are probed, a common finding for soft tissue inflammation. There have been reports of bone loss without any accompanying sign of soft tissue inflammation. Without evidence of bone loss, the diagnosis is restricted to peri-mucositis (see comparison between peri-implantitis and peri-implant mucositis below for more information).[2][3][4][5][7]
Other reported features include pain and gingival hyperplasia.[3][6] Pain is thought to be a rare symptom and is usually linked to an acute infection.[3]
### Bone loss[edit]
In health, there should be no sign of bone loss other than potential bone remodelling at the alveolar crest following implant placement.[2]
The shape of the alveolar bone in regions of bone loss varies depending on the buccal-lingual length (or cheek-to-tongue length) of the bone. Where this length is greater than the extent of the peri-implantitis, the region of bone loss can take the shape of a crater, with walls of bone surrounding the pathology;[4] this is the most common presentation of bone loss.[3] Where the buccal-lingual length is smaller, there may be no walls of bone surrounding the pathology.[4]
### Probing[edit]
Bleeding on probing is considered normal whilst tissues are healing shortly after implant placement, however, if bleeding is present months or years after placement, inflammation should be suspected.[5] Other features which may be present whilst probing include pus, the presence of a pocket around the implant and/or recession of the gums. The dental professional may also notice swelling and redness of the gums, the latter of which is termed erythema.[2][3][4][6][7]
During probing, it is important to note that the pocket depth around an implant is typically greater than around natural teeth.[8] Also, the value for the pocket depth around an implant is variable in health, therefore, diagnosis of a pocket is reliant on a change in pocket depth when comparing measurements from different appointments.[2] For this reason, a Basic Periodontal Examination (BPE) is not appropriate, and a 4 or 6 point pocket chart is instead recommended.[8]
Below is a summary table of signs and symptoms associated with peri-implantitis.[2][3][4][5][6][7]
Signs and symptoms of peri-implantitis Signs (identified by health professional) Symptoms (patient presents with these issues)
Bleeding (and possible discharge of pus) on probing Bleeding when brushing teeth
Swelling Swelling around implant
Pocket formation and/or gum recession Foul taste
Redness (erythema) Bad breath
Hyperplasia Loose implant
Radiographic evidence of bone loss around implant Pain (rare)
## Causes & Pathology[edit]
Studies in both human and animal specimens found that the presence of plaque and its conglomeration around tissues invariably concluded in inflammation around the peri-implant soft tissue.
To find the pathology of peri-implantitis, experiments were compared to peri-mucositis, and found that in peri-implantitis, there were more neutrophil granulocytes and a bigger proportion of (CD19+) B-cells. Similarly in periodontitis, peri-implantitis lesions contained many plasma cells and lymphocytes, however there were a larger ratio of macrophage cells and leukocytic cells.[9][10]
## Risk Factors[edit]
The risk factors have been sub-divided to distinguish those with strong supporting evidence (below the sub-heading ‘risk factor’) from those with conflicting evidence (below the sub-heading ‘potential risk factors’).
### Risk factors[edit]
* Poor plaque control - this highlights the importance of cleaning the tissues around an implant between dental appointments. It is understood that patients sometimes feel discomfort whilst brushing around implants and are advised to speak to their dentist about this. Also, patients may sometimes be unable to access some sites for cleaning.
Lack of regular maintenance therapy. To avoid this, regular dental visits should be arranged to enable early detection and management of peri-implantitis.[11]
* Titanium implant degradation products in the form of microparticles, which have infiltrated the peri-implant tissue[12] and peri-implant bacterial plaque.[13] These particles have occasionally been found in small concentrations in healthy peri-implant tissue, however, their concentration was reported to be signigicantly higher in individuals with peri-implantitis.[13][14] These titanium particles are internalized by phagocytes [15] and have been found to elicit strong pro-inflammatory effects and bone resorption in preclinical models suggesting causative implications to peri-implantitis.[16]
### Potential risk factors[edit]
Diabetes mellitus (commonly known as type 1 and type 2 diabetes)
Excess cement. The cement is used to retain the implant, although its potentially rough surface may aid with plaque retention. Therefore, any residual cement surrounding the implant abutment interface can give rise to peri-implantitis. The alternative to cement is a screw-retained implant, although some studies have reported a higher risk of peri-implantitis with these compared to cement-retained implants.
Further research is required to establish whether the following are indeed risk factors for peri-implantitis:
* Width of keratinised mucosa around the implant. Several studies identified more plaque and inflammation where the keratinised mucosa is 2mm or less in width, although it is unclear if this translates to a higher risk of peri-implantitis.
* Genetics
* Systemic conditions other than diabetes, such as cardiovascular disease and rheumatoid arthritis
* Iatrogenic factors such as implant positioning and bone grafting
* Occlusal overloading of the implant
Smoking is not regarded as a risk factor for peri-implantitis despite its association with periodontitis.[10]
## Peri-implantitis vs Peri-implant mucositis[edit]
Peri-implant disease is an umbrella term for inflammatory diseases of tissues including both peri-implantitis and peri-implant mucositis. Peri-implant mucositis is a disease where inflammation is limited to the surrounding mucosa of an implant whereby peri-implantitis an inflammatory disease affecting mucosa as well as bone.[4]
In health, peri-implant mucosa is described as “oral epithelium extending into a non-keratinised barrier epithelium with basal lamina and hemidesmosomes facing the implant or abutment surface”. Healthy peri-implant mucosa becomes peri-implant mucositis when biofilms housing bacteria colonise implants and elicit an inflammatory response.[17] The characteristics of peri-implant mucositis are very similar to that of gingivitis: redness, swelling and inflammation. In order to diagnose peri-implant mucositis, bleeding in response to probing of the gingiva must be identified. Research has stated that the cause of this disease is similar to that of gingivitis: inadequate plaque removal in areas surrounding the implant.[4] Zitzmann et al. (2001) enlisted 12 partially dentate participants with implants who had healthy periodontal tissues. They were asked to refrain from carrying out oral hygiene for a period of 3 weeks. The results of this study demonstrated that the accumulation of plaque had led to the development of inflammation coupled with an increase in the gingival infiltrate containing immune cells[18]
Research has highlighted that the mechanisms of peri-implant mucositis and gingivitis are very similar with bacterial invasion from plaque triggering redness, swelling and inflammation within soft tissues. Peri-implant mucositis has the ability to transform into peri-implantitis if no action is taken to reverse signs of peri-implant mucositis, similar to gingivitis and periodontitis. To reverse peri-implant mucositis, good oral hygiene must be performed regularly to remove plaque which initiated this disease.[19]
Peri-implant mucositis becomes peri-implantitis when bone resorption is identified around the implant on a radiograph as well as all the signs associated with peri-implant mucositis is seen. Often, pus may also exude from the tissues surrounding the implant. However, mobility of the implant is not a sign of peri-implantitis as this disease begins at the margins of the implant. Only in the most severe cases of peri-implantitis, implant mobility may be observed where minimal bone tissue remains.
## Prevention[edit]
If peri-implant mucositis is present, it must be treated to deter it from progressing to peri-implantitis, for which currently, there are no treatments to reverse its effects.
Patients must carry out plaque removal regularly to prevent and treat peri-implant mucositis by the act of tooth-brushing. Dentists must deliver oral hygiene instruction to ensure their patients are removing plaque sufficiently as well as removing their calculus which is a known plaque-retentive factor. The prognosis for implants are significantly higher in those who do not smoke compared to those who do, therefore patients should be encouraged to quit smoking in order to achieve the best results.
Dentists are responsible for ensuring that different elements of the implant should be of the correct size to avoid creating additional surfaces which bacteria can colonise. Margins of the restoration should be placed supra-gingivally in order to remove any extruded cement during placement. After implant placement, dentists must carefully and regularly monitor the health of the peri-implant mucosa at suitable intervals e.g. every 3/6/12 months.[7][17][20]
## Treatment[edit]
It is challenging to treat peri-implantitis. Depending on the nature of the disease, treatment can vary significantly – from non-surgical therapy with an aim to control the infection and detoxify the implant surface, to surgical procedures to regenerate the alveolar bone that has been lost.[3]
Due to the screw-shaped design and titanium surface modifications of the implants, mechanical debridement on the surface of the implant is ineffective in removing all adhering microorganisms. Therefore, to enhance the non-surgical treatment options of peri-implantitis, mechanical debridement can be used in combination with antiseptic, antibiotic therapy and/or resective or regenerative surgery. The combination of treatments can vary depending on the severity of the peri-implantitis, and cumulative interceptive support therapy provides guidance in this aspect.[21]
Cumulative interceptive supportive therapy, a protocol of therapeutic measures, provides guidance for clinicians to decide which regime should be used to treat peri-implantitis, depending on the mucosal condition (whether there is a presence of dental plaque, bleeding on gentle probing, suppuration), peri-implant probing depth and evidence of radiographic bone loss.[21]
### Mechanical debridement[edit]
To prevent roughening and damaging of the implant surface, ultrasonic scalers with a non-metallic tip or resin/carbon fiber curettes are used for calculus removal.[3] Conventional steel curettes or ultrasonic instruments with metal tips should be avoided as implant surface can be damaged, and any residual marks increase implant susceptibility to plaque accumulation in the future. Polishing with rubber cups and polishing paste also aids in plaque removal.[21]
### Antiseptic treatment[edit]
This is performed in conjunction with mechanical debridement based on an empirical basis. The most commonly employed antiseptic applied is chlorhexidine digluconate, an antimicrobial commonly used in periodontitis. To achieve positive treatment results, 3–4 weeks of regular administration of chlorhexidine, either in the form of daily rinse (of 0.1%, 0.12% or 0.2%) or as a gel, is necessary. This is also recommended to maintain satisfactory plaque control, but long-term use is not recommended due to adverse events including staining of teeth and oral tissues and altered taste sensation.[21] Chlorhexidine is shown to significantly improve the mucosal condition in bleeding on probing, probing pocket depth, and clinical attachment level.[22] Recently, concerns have been raised regarding the direct application of chlorhexidine on implant surfaces during the treatment of peri-implant inflammation, because it becomes adsorbed on the implants and exhibits strong cytotoxic effects to fibroblasts and osteoblasts that may prevent peri-implantitis healing.[23]
### Antibiotic treatment[edit]
This approach is aiming to eliminate or at least significantly reduce the pathogens in the submucosal biofilm. An antibiotic targeting gram-negative anaerobic bacteria – e.g. metronidazole or ornidazole is administered during the last ten days of antiseptic treatment, allowing peri-implant infection to be treated successfully and remain stable. Reinfection is subsequently prevented by instituting prophylactic procedures.[21] Alternatively, tetracycline periodontal fibers can be inserted locally for a period of ten days; this creates an environment of sustained high dose of the antimicrobial agent at the affected site for several days.[24] Another method is to use minocycline microspheres in conjunction with mechanical debridement; this has shown to improve probing depths, but the treatment may have to be repeated in future.[25]
### Surgical treatment[edit]
Surgical flap management with either (or both) resective and regenerative approaches is only considered if infection is controlled successfully. This treatment is used to restore the bony support through guided bone regeneration, or to reshape the peri-implant soft tissue.[21] This also helps in comprehensive debridement and local decontamination of the affected implant.[3] It is vital to consider the aesthetic and morphological characteristics of the peri-implant lesion when considering resective surgical techniques.[21]
## Current Research[edit]
Preventing peri-implantitis using Biomaterial strategies to prevent or eliminate initial bacterial attachment are currently being researched. These biomaterial strategies are aiming at suppressing or inhibiting bacterial colonization of implant surfaces in favor or host cells and tissues. Various combinations of strategies like antimicrobial surfaces and or delivery mechanisms coupled with methods to favor stable osseointegration and permucosal seal are being developed, these type of surfaces will be most effective in developing implants resistant to peri-implant disease.[26]
## References[edit]
1. ^ Custom made root analogue zirconia implants Fernando Pessoa University. 2017.
2. ^ a b c d e f g Berglundh, Tord; Armitage, Gary; Araujo, Mauricio G.; Avila-Ortiz, Gustavo; Blanco, Juan; Camargo, Paulo M.; Chen, Stephen; Cochran, David; Derks, Jan (June 2018). "Peri-implant diseases and conditions: Consensus report of workgroup 4 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions". Journal of Clinical Periodontology. 45 Suppl 20: S286–S291. doi:10.1111/jcpe.12957. ISSN 1600-051X. PMID 29926491.
3. ^ a b c d e f g h i j Prathapachandran, Jayachandran; Suresh, Neethu (2012). "Management of peri-implantitis". Dental Research Journal. 9 (5): 516–521. doi:10.4103/1735-3327.104867. ISSN 1735-3327. PMC 3612185. PMID 23559913.
4. ^ a b c d e f g h i j P., Lang, Niklaus (2015). Clinical Periodontology and Implant Dentistry. Wiley. ISBN 9781118940488. OCLC 956687931.
5. ^ a b c d e f "European Federation of Periodontology". www.efp.org. Retrieved 2018-11-26.
6. ^ a b c d "Peri-implantitis and Management". DGOI (in German). 2016-05-03. Retrieved 2018-11-26.
7. ^ a b c d Fransson, Christer; Wennström, Jan; Berglundh, Tord (February 2008). "Clinical characteristics at implants with a history of progressive bone loss". Clinical Oral Implants Research. 19 (2): 142–147. doi:10.1111/j.1600-0501.2007.01448.x. ISSN 0905-7161. PMID 18184340.
8. ^ a b British Society of Periodontology. "The Good Practitioner's Guide to Periodontology" (PDF). British Society of Periodontology. Retrieved 21 January 2019.
9. ^ Smeets, Ralf; Henningsen, Anders; Jung, Ole; Heiland, Max; Hammächer, Christian; Stein, Jamal M (2014-09-03). "Definition, etiology, prevention and treatment of peri-implantitis – a review". Head & Face Medicine. 10: 34. doi:10.1186/1746-160X-10-34. ISSN 1746-160X. PMC 4164121. PMID 25185675.
10. ^ a b Schwarz, Frank; Derks, Jan; Monje, Alberto; Wang, Hom-Lay (2018). "Peri-implantitis". Journal of Clinical Periodontology. 45: S246–S266. doi:10.1111/jcpe.12954. PMID 29926484.
11. ^ Costa, Fernando Oliveira; Takenaka‐Martinez, Satoshi; Cota, Luís Otávio Miranda; Ferreira, Sergio Diniz; Silva, Geraldo Lúcio Magalhães; Costa, José Eustáquio (2012). "Peri-implant disease in subjects with and without preventive maintenance: a 5-year follow-up". Journal of Clinical Periodontology. 39 (2): 173–181. doi:10.1111/j.1600-051X.2011.01819.x. ISSN 1600-051X. PMID 22111654.
12. ^ Olmedo, Daniel; Fernández, María Marta; Guglielmotti, María Beatriz; Cabrini, Rómulo Luis (March 2003). "Macrophages Related to Dental Implant Failure". Implant Dentistry. 12 (1): 75–80. doi:10.1097/01.id.0000041425.36813.a9. PMID 12704960. S2CID 9924890.
13. ^ a b Safioti, Luciana M.; Kotsakis, Georgios A.; Pozhitkov, Alex E.; Chung, Whasun O.; Daubert, Diane M. (May 2017). "Increased Levels of Dissolved Titanium Are Associated With Peri-Implantitis – A Cross-Sectional Study". Journal of Periodontology. 88 (5): 436–442. doi:10.1902/jop.2016.160524. PMID 27858551. S2CID 23063156.
14. ^ ZANDIM-BARCELOS, Daniela Leal; CARVALHO, Gabriel Garcia de; SAPATA, Vitor Marques; VILLAR, Cristina Cunha; HÄMMERLE, Christoph; ROMITO, Giuseppe Alexandre (2019). "Implant-based factor as possible risk for peri-implantitis". Brazilian Oral Research. 33 (suppl 1): e067. doi:10.1590/1807-3107bor-2019.vol33.0067. PMID 31576951.
15. ^ Bruno, Marcos E.; Sittner, Maximiliano; Cabrini, Rómulo L.; Guglielmotti, María B.; Olmedo, Daniel G.; Tasat, Deborah R. (February 2015). "age dependent response of macrophages to micro and nano titanium dioxide particles". Journal of Biomedical Materials Research Part A. 103 (2): 471–478. doi:10.1002/jbm.a.35194. PMID 24733814.
16. ^ Eger, Michal; Sterer, Nir; Liron, Tamar; Kohavi, David; Gabet, Yankel (6 January 2017). "Scaling of titanium implants entrains inflammation-induced osteolysis". Scientific Reports. 7 (1): 39612. doi:10.1038/srep39612. PMC 5216395. PMID 28059080.
17. ^ a b Heitz-Mayfield, Lisa J.A.; Salvi, Giovanni E. (June 2018). "Peri-implant mucositis". Journal of Clinical Periodontology. 45: S237–S245. doi:10.1111/jcpe.12953. ISSN 0303-6979. PMID 29926488.
18. ^ Zitzmann, N. U.; Berglundh, T.; Marinello, C. P.; Lindhe, J. (June 2001). "Experimental peri-implant mucositis in man". Journal of Clinical Periodontology. 28 (6): 517–523. doi:10.1034/j.1600-051x.2001.028006517.x. ISSN 0303-6979. PMID 11350518.
19. ^ Caton, Jack G.; Armitage, Gary; Berglundh, Tord; Chapple, Iain L.C.; Jepsen, Søren; Kornman, Kenneth S.; Mealey, Brian L.; Papapanou, Panos N.; Sanz, Mariano (June 2018). "A new classification scheme for periodontal and peri-implant diseases and conditions - Introduction and key changes from the 1999 classification" (PDF). Journal of Clinical Periodontology. 45: S1–S8. doi:10.1111/jcpe.12935. ISSN 0303-6979. PMID 29926489. S2CID 206033355.
20. ^ Jepsen, Søren; Berglundh, Tord; Genco, Robert; Aass, Anne Merete; Demirel, Korkud; Derks, Jan; Figuero, Elena; Giovannoli, Jean Louis; Goldstein, Moshe (2015-03-31). "Primary prevention of peri-implantitis: Managing peri-implant mucositis". Journal of Clinical Periodontology. 42: S152–S157. doi:10.1111/jcpe.12369. ISSN 0303-6979. PMID 25626479.
21. ^ a b c d e f g Froum, Stuart J. (2015-10-05). Dental implant complications : etiology, prevention, and treatment. Froum, Stuart J. (Second ed.). Hoboken, New Jersey. ISBN 9781118976463. OCLC 922529540.
22. ^ Schwarz, Frank; Sculean, Anton; Bieling, Katrin; Ferrari, Daniel; Rothamel, Daniel; Becker, Jürgen (2007-12-18). "Two-year clinical results following treatment of peri-implantitis lesions using a nanocrystalline hydroxyapatite or a natural bone mineral in combination with a collagen membrane". Journal of Clinical Periodontology. 35 (1): 80–87. doi:10.1111/j.1600-051x.2007.01168.x. ISSN 0303-6979. PMID 18173402.
23. ^ Kotsakis, Georgios A.; Lan, Caixia; Barbosa, Joao; Lill, Krista; Chen, Ruoqiong; Rudney, Joel; Aparicio, Conrado (July 2016). "Antimicrobial Agents Used in the Treatment of Peri-Implantitis Alter the Physicochemistry and Cytocompatibility of Titanium Surfaces". Journal of Periodontology. 87 (7): 809–819. doi:10.1902/jop.2016.150684. PMID 26923474.
24. ^ Lang, Niklaus P.; Wilson, Thomas G.; Corbet, Esmonde F. (September 2000). "Biological complications with dental implants: their prevention, diagnosis and treatment". Clinical Oral Implants Research. 11: 146–155. doi:10.1034/j.1600-0501.2000.011s1146.x. ISSN 0905-7161. PMID 11168263.
25. ^ Renvert, Stefan; Lessem, Jan; Dahlen, Gunnar; Lindahl, Christel; Svensson, Marie (May 2006). "Topical minocycline microspheres versus topical chlorhexidine gel as an adjunct to mechanical debridement of incipient peri-implant infections: a randomized clinical trial". Journal of Clinical Periodontology. 33 (5): 362–369. doi:10.1111/j.1600-051x.2006.00919.x. ISSN 0303-6979. PMID 16634959.
26. ^ Bumgardner, Joel D.; Adatrow, Pradeep; Haggard, Warren O.; Norowski, P. Andrew (May 2011). "Emerging antibacterial biomaterial strategies for the prevention of peri-implant inflammatory diseases". The International Journal of Oral & Maxillofacial Implants. 26 (3): 553–560. ISSN 1942-4434. PMID 21691602.
* v
* t
* e
Dentistry involving supporting structures of teeth (Periodontology)
Anatomy
* Periodontium
* Alveolar bone
* Biologic width
* Bundle bone
* Cementum
* Free gingival margin
* Gingiva
* Gingival fibers
* Gingival sulcus
* Junctional epithelium
* Mucogingival junction
* Periodontal ligament
* Sulcular epithelium
* Stippling
Disease
Diagnoses
* Chronic periodontitis
* Localized aggressive periodontitis
* Generalized aggressive periodontitis
* Periodontitis as a manifestation of systemic disease
* Periodontosis
* Necrotizing periodontal diseases
* Abscesses of the periodontium
* Combined periodontic-endodontic lesions
Infection
* A. actinomycetemcomitans
* Capnocytophaga sp.
* F. nucleatum
* P. gingivalis
* P. intermedia
* T. forsythia
* T. denticola
* Red complex
* Entamoeba gingivalis (amoebic)
* Trichomonas tenax
Other
* Calculus
* Clinical attachment loss
* Edentulism
* Fremitus
* Furcation defect
* Gingival enlargement
* Gingival pocket
* Gingival recession
* Gingivitis
* Horizontal bony defect
* Linear gingival erythema
* Occlusal trauma
* Periodontal pocket
* Periodontal disease
* Periodontitis
* Plaque
* Vertical bony defect
Treatment and prevention
* Periodontal examination
* Ante's law
* Brushing
* Bleeding on probing
* Chlorhexidine gluconate
* Flossing
* Hydrogen peroxide
* Mouthwash
* Oral hygiene
* Tetracycline
* Triclosan
* Host modulatory therapy
Treatment
Conventional therapy
* Debridement
* Scaling and root planing
* Full mouth disinfection
* Full mouth ultrasonic debridement
Surgery
* Apically positioned flap
* Bone graft
* Coronally positioned flap
* Crown lengthening
* Free gingival graft
* Gingival grafting
* Gingivectomy
* Guided bone regeneration
* Guided tissue regeneration
* Enamel matrix derivative
* Implant placement
* Lateral pedicle graft
* Open flap debridement
* Pocket reduction surgery
* Socket preservation
* Sinus lift
* Subepithelial connective tissue graft
* Tools
* Curette
* Membrane
* Probe
* Scaler
Important personalities
* Tomas Albrektsson
* Frank Beube
* Per-Ingvar Brånemark
* Robert Gottsegen
* Gary Greenstein
* Jan Lindhe
* Brian Mealey
* Preston D. Miller
* Willoughby D. Miller
* Carl E. Misch
* John Mankey Riggs
* Jay Seibert
* Jørgen Slots
* Paul Roscoe Stillman
* Dennis P. Tarnow
* Hom-Lay Wang
* James Leon Williams
* W. J. Younger
Other specialties
* Endodontology
* Orthodontology
* Prosthodontology
*[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
|
Peri-implantitis
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https://en.wikipedia.org/wiki/Peri-implantitis
| 2021-01-18T18:51:36 |
{"mesh": ["D057873"], "umls": ["C2936258"], "wikidata": ["Q601168"]}
|
Any disease or malfunction of the autonomic nervous system
Dysautonomia
Other namesAutonomic dysfunction
The autonomic nervous system
SpecialtyNeurology
SymptomsAnxiety[1]
CausesInadequacy of sympathetic, or parasympathetic, components of autonomic nervous system[2]
Risk factorsAlcoholism and Diabetes[3]
Diagnostic methodAmbulatory Blood pressure, as well as EKG monitoring[4]
TreatmentSymptomatic and supportive[2]
Dysautonomia or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic.[5] A number of conditions can feature dysautonomia, such as Parkinson's disease, HIV/AIDS, multiple system atrophy, autonomic failure, postural orthostatic tachycardia syndrome, Ehlers-Danlos syndrome,[6] autoimmune autonomic ganglionopathy, and autonomic neuropathy.[citation needed]
The diagnosis is achieved through functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysautonomia, and some disease processes can be directly treated.[7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Vegetative-vascular dystonia
* 5 Management
* 6 Prognosis
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
The symptoms of dysautonomia, which are numerous and vary widely for each individual, are due to inefficient or unbalanced efferent signals sent via both systems. The primary symptoms in individuals with dysautonomia include
* Anhydrosis[1]
* Anxiety[4]
* Blurry or double vision[1]
* Bowel incontinence[1]
* Brain fog[1]
* Constipation[4]
* Dizziness[4]
* Difficulty swallowing[8]
* Exercise intolerance[1]
* Insomnia[4]
* Low blood pressure[4]
* Orthostatic hypotension[1]
* Syncope[4]
* Tachycardia[5]
* Tunnel vision[4]
* Urinary incontinence or urinary retention[1]
* Vertigo[4]
* Weakness[4]
## Causes[edit]
Vincristine
Dysautonomia may be due to inherited or degenerative neurologic diseases (primary dysautonomia)[5] or it may occur due to injury of the autonomic nervous system from an acquired disorder (secondary dysautonomia).[1][9] The most common causes of dysautonomia include
* Alcoholism[8]
* Amyloidosis[4]
* Autoimmune disease, such as Sjögren's syndrome or systemic lupus erythematosus (lupus), and autoimmune autonomic ganglionopathy[citation needed]
* Craniocervical instability[8]
* Diabetes[8]
* Eaton-Lambert syndrome[4]
* Ehlers-Danlos syndrome[10]
* Guillain-Barré syndrome[8]
* HIV and AIDS[8]
* Lyme disease[4]
* Multiple sclerosis[8]
* Multiple system atrophy
* Paraneoplastic syndrome[11]
* Parkinson's disease[8]
* Spinal cord injury[8]
* Surgery or injury involving the nerves[8]
* Toxicity (vincristine)[4]
In the sympathetic nervous system (SNS), predominant dysautonomia is common along with fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis, raising the possibility that such dysautonomia could be their common clustering underlying pathogenesis.[12]
In addition to sometimes being a symptom of dysautonomia, anxiety can sometimes physically manifest symptoms resembling autonomic dysfunction.[13][14][15] A thorough investigation ruling out physiological causes is crucial, but in cases where relevant tests are performed and no causes are found or symptoms do not match any known disorders, a primary anxiety disorder is possible, but should not be presumed.[16] For such patients, the anxiety sensitivity index may have better predictivity for anxiety disorders, while the Beck anxiety inventory may misleadingly suggest anxiety for patients with dysautonomia.[17]
## Mechanism[edit]
The autonomic nervous system is a component of the peripheral nervous system and comprises two branches: the sympathetic nervous system (SNS) and the parasympathetic nervous system (PSNS). The SNS controls the more active responses such as increasing heart rate and blood pressure. The PSNS slows down the heart rate and aids in digestion, for example. Symptoms typically arise from abnormal responses of either the sympathetic or parasympathetic systems based on situation or environment.[5][18]
## Diagnosis[edit]
Valsalva maneuver
The diagnosis of dysautonomia depends on the overall function of three autonomic functions – cardiovagal, adrenergic, and sudomotor. A diagnosis should, at a bare minimum, include measurements of blood pressure and heart rate while lying flat, and after at least 3 minutes of standing. The best way to achieve a diagnosis includes a range of testing, notably an autonomic reflex screen, tilt table test, and testing of the sudomotor response (QSART or thermoregulatory sweat test).[19]
Additional tests and examinations to determine a diagnosis of dysautonomia include
* Ambulatory blood pressure and EKG monitoring[4]
* Cold pressor test[19]
* Deep breathing[19]
* Hyperventilation test[19]
* Nerve biopsy for small fiber neuropathy[1]
* Quantitative sudomotor axon reflex test (QSART)[19]
* Testing for orthostatic intolerance[19]
* Thermoregulatory sweat test[19]
* Tilt table test[19]
* Valsalva maneuver[19]
Tests to elucidate the cause of dysautonomia can include:
* Evaluation for acute (intermittent) porphyria.[1]
* Evaluation of cerebrospinal fluid by lumbar puncture[1]
### Vegetative-vascular dystonia[edit]
Particularly in the Russian literature,[20] a subtype of dysautonomia which particularly affects the vascular system has been called vegetative-vascular dystonia.[21][22][23][24][25] The term "vegetative" reflects an older name for the autonomic nervous system: the vegetative nervous system.[citation needed]
## Management[edit]
H2\- receptor antagonist
The treatment of dysautonomia can be difficult; since it is made up of many different symptoms, a combination of drug therapies is often required to manage individual symptomatic complaints. Therefore, if an autoimmune neuropathy is the case, then treatment with immunomodulatory therapies is done, or if diabetes mellitus is the cause, control of blood glucose is important.[1] Treatment can include proton-pump inhibitors and H2 receptor antagonists used for digestive symptoms such as acid reflux.[26]
For the treatment of genitourinary autonomic neuropathy medications may include sildenafil (a guanine monophosphate type-5 phosphodiesterase inhibitor). For the treatment of hyperhidrosis, anticholinergic agents such as trihexyphenidyl or scopolamine can be used, also intracutaneous injection of botulinum toxin type A can be used for management in some cases.[27]
Balloon angioplasty, a procedure referred to as transvascular autonomic modulation, is specifically not approved for the treatment of autonomic dysfunction.[28]
## Prognosis[edit]
The prognosis of dysautonomia depends on several factors; individuals with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration such as Parkinson's disease or multiple system atrophy have a generally poorer long-term prognosis. Consequently, dysautonomia could be fatal due to pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest.[5]
Autonomic dysfunction symptoms such as orthostatic hypotension, gastroparesis, and gustatory sweating are more frequently identified in mortalities.[29]
## See also[edit]
* Da Costa's syndrome
* Dopamine beta hydroxylase deficiency
* Familial dysautonomia
* Reflex syncope
* Postural orthostatic tachycardia syndrome
* Orthostatic intolerance
## References[edit]
1. ^ a b c d e f g h i j k l m "Autonomic Neuropathy Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2016-02-21.
2. ^ a b "Dysautonomia Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2 January 2018.
3. ^ "Dysautonomia | Autonomic Nervous System Disorders | MedlinePlus". NIH. Retrieved 2 January 2018.
4. ^ a b c d e f g h i j k l m n o "Autonomic Neuropathy. Information about AN. Patient | Patient". Patient. Retrieved 2016-02-21.
5. ^ a b c d e "Dysautonomia". NINDS. Archived from the original on 2016-12-02. Retrieved 2012-04-03.
6. ^ Castori M, Voermans NC (October 2014). "Neurological manifestations of Ehlers-Danlos syndrome(s): A review". Iranian Journal of Neurology. 13 (4): 190–208. PMC 4300794. PMID 25632331.
7. ^ Iodice V, Kimpinski K, Vernino S, Sandroni P, Fealey RD, Low PA (June 2009). "Efficacy of immunotherapy in seropositive and seronegative putative autoimmune autonomic ganglionopathy". Neurology. 72 (23): 2002–8. doi:10.1212/WNL.0b013e3181a92b52. PMC 2837591. PMID 19506222.
8. ^ a b c d e f g h i j "Autonomic neuropathy: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-02-20.
9. ^ Kirk KA, Shoykhet M, Jeong JH, Tyler-Kabara EC, Henderson MJ, Bell MJ, Fink EL (August 2012). "Dysautonomia after pediatric brain injury". Developmental Medicine and Child Neurology. 54 (8): 759–64. doi:10.1111/j.1469-8749.2012.04322.x. PMC 3393822. PMID 22712762.
10. ^ De Wandele I, Rombaut L, Leybaert L, Van de Borne P, De Backer T, Malfait F, et al. (August 2014). "Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome". Seminars in Arthritis and Rheumatism. 44 (1): 93–100. doi:10.1016/j.semarthrit.2013.12.006. PMID 24507822.
11. ^ "Paraneoplastic syndromes of the nervous system". Mayo Clinic. Mayo Clinic. Retrieved 13 September 2016.
12. ^ Martínez-Martínez LA, Mora T, Vargas A, Fuentes-Iniestra M, Martínez-Lavín M (April 2014). "Sympathetic nervous system dysfunction in fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis: a review of case-control studies". Journal of Clinical Rheumatology. 20 (3): 146–50. doi:10.1097/RHU.0000000000000089. PMID 24662556. S2CID 23799955.
13. ^ Soliman K, Sturman S, Sarkar PK, Michael A (2010). "Postural orthostatic tachycardia syndrome (POTS): a diagnostic dilemma". British Journal of Cardiology. 17 (1): 36–9.
14. ^ Ackerman K, DiMartini AF (2015). Psychosomatic Medicine. Oxford University Press, Incorporated. ISBN 9780199329311.
15. ^ Carr A, McNulty M (2016-03-31). The Handbook of Adult Clinical Psychology: An Evidence Based Practice Approach. Routledge. ISBN 9781317576143.
16. ^ Tasman A, Kay J, First MB, Lieberman JA, Riba M (2015-03-30). Psychiatry, 2 Volume Set. John Wiley & Sons. ISBN 9781118845479.
17. ^ Raj V, Haman KL, Raj SR, Byrne D, Blakely RD, Biaggioni I, et al. (March 2009). "Psychiatric profile and attention deficits in postural tachycardia syndrome". Journal of Neurology, Neurosurgery, and Psychiatry. 80 (3): 339–44. doi:10.1136/jnnp.2008.144360. PMC 2758320. PMID 18977825.
18. ^ Information, National Center for Biotechnology; Pike, U. S. National Library of Medicine 8600 Rockville; MD, Bethesda; Usa, 20894. "Autonomic Nervous System - National Library of Medicine". PubMed Health. Retrieved 2016-02-21.CS1 maint: numeric names: authors list (link)
19. ^ a b c d e f g h i Mustafa HI, Fessel JP, Barwise J, Shannon JR, Raj SR, Diedrich A, et al. (January 2012). "Dysautonomia: perioperative implications". Anesthesiology. 116 (1): 205–15. doi:10.1097/ALN.0b013e31823db712. PMC 3296831. PMID 22143168.
20. ^ Loganovsky K (1999). "Vegetative-Vascular Dystonia and Osteoalgetic Syndrome or Chronic Fatigue Syndrome as a Characteristic After-Effect of Radioecological Disaster". Journal of Chronic Fatigue Syndrome. 7 (3): 3–16. doi:10.1300/J092v07n03_02.
21. ^ Ivanova ES, Mukharliamov FI, Razumov AN, Uianaeva AI (2008). "[State-of-the-art corrective and diagnostic technologies in medical rehabilitation of patients with vegetative vascular dystonia]". Voprosy Kurortologii, Fizioterapii, I Lechebnoi Fizicheskoi Kultury (1): 4–7. PMID 18376477.
22. ^ Malysheva OA, Shirinskiĭ VS (1998). "[Seasonal changes of secondary immunodeficiency in patients with vascular dystonia]". Klinicheskaia Meditsina. 76 (5): 34–6. PMID 9644934.
23. ^ Lobzin VS, Poliakova LA, Shiman AG, Zavodnik AI (March 1989). "[Treatment of autonomic vascular dystonia by combined physiotherapy methods]". Vrachebnoe Delo (3): 22–3. PMID 2750110.
24. ^ Solov'eva AD, Kolosova OA, Loseva MM, Mindlina GE, Ginzburg LI (1985). "[Thermography in healthy subjects and in the syndrome of vegetative-vascular dystonia]". Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova. 85 (6): 905–10. PMID 4024817.
25. ^ Isaev DN, Efremov KD (1983). "[Psychogenic factors participating in the development of vegetovascular dystonia of the hypertensive type in children]". Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova. 83 (10): 1548–52. PMID 6659792.
26. ^ "H2 Blockers. Reducing stomach acid with H2 Blockers. | Patient". Patient. Retrieved 2016-02-21.
27. ^ "Diabetic Autonomic Neuropathy".
28. ^ "Safety Alerts for Human Medical Products - Balloon angioplasty devices to treat autonomic dysfunction: FDA Safety Communication - FDA concern over experimental procedures". www.fda.gov. Retrieved 5 December 2020.
29. ^ Vinik AI, Maser RE, Mitchell BD, Freeman R (May 2003). "Diabetic autonomic neuropathy". Diabetes Care. 26 (5): 1553–79. doi:10.2337/diacare.26.5.1553. PMID 12716821.
## Further reading[edit]
* Brading A (1999). The autonomic nervous system and its effectors. Oxford: Blackwell Science. ISBN 978-0632026241.
* Goldstein, David (2016). Principles of Autonomic Medicine (PDF) (free online version ed.). Bethesda, Maryland: National Institute of Neurological Disorders and Stroke, National Institutes of Health. ISBN 9780824704087.
* Jänig W (2008). Integrative action of the autonomic nervous system : neurobiology of homeostasis (Digitally printed version. ed.). Cambridge: Cambridge University Press. ISBN 978-0521067546.
* Lara A, Damasceno DD, Pires R, Gros R, Gomes ER, Gavioli M, et al. (April 2010). "Dysautonomia due to reduced cholinergic neurotransmission causes cardiac remodeling and heart failure". Molecular and Cellular Biology. 30 (7): 1746–56. doi:10.1128/MCB.00996-09. PMC 2838086. PMID 20123977.
* Schiffer RB, Rao SM, Fogel BS (2003-01-01). Neuropsychiatry. Lippincott Williams & Wilkins. ISBN 9780781726559.
## External links[edit]
* Wikidata: Dysautonomia (Scholia)
Classification
D
* ICD-10: G90
* ICD-9-CM: 337.9
* MeSH: D001342
* v
* t
* e
Diseases of the autonomic nervous system
General
* Dysautonomia
* Autonomic dysreflexia
* Autonomic neuropathy
* Pure autonomic failure
Hereditary
* Hereditary sensory and autonomic neuropathy
* Familial dysautonomia
* Congenital insensitivity to pain with anhidrosis
Orthostatic intolerance
* Orthostatic hypotension
* Postural orthostatic tachycardia syndrome
Other
* Horner's syndrome
* Multiple system atrophy
* v
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* e
Medicine
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*[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
|
Dysautonomia
|
c0013363
| 24,930 |
wikipedia
|
https://en.wikipedia.org/wiki/Dysautonomia
| 2021-01-18T18:42:56 |
{"mesh": ["D054969"], "icd-9": ["337.9"], "icd-10": ["G90"], "wikidata": ["Q620639"]}
|
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. (December 2016)
LMNA-related congenital muscular dystrophy
Other namesCongenital muscular dystrophy due to LMNA mutation
This condition is inherited in an autosomal dominant manner.
SpecialtyNeurology
Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthetizes lamins A and C.
This illness implies, like other muscular dystrophies, muscle weakness, motor difficulties and lack of control in the movement of the head, respiratory failure and cardiac abnormalities.
It is an autosomal dominant inherited disease that affects both male and female. It is dominantly inherited because the abnormal gene would dominate beyond the normal one and it would transmit the disease. But it can also be recessive inheritance, which means that parents would carry the disease but it would not appear. Moreover, this disease is also caused by de novo mutations, which are spontaneous mutations. Therefore, although parents have normal genes, children who are affected by mutations will have kids that would suffer the same disease as it is transmitted through heredity. This dystrophy was discovered thanks to geneticist, Gisèle Bonne, who identified the first mutation of the LMNA gene in 1999.
## Contents
* 1 Symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
* 8 External links
## Symptoms[edit]
In general, the symptoms are:
* Muscle weakness.
* Difficulty in motor acquisitions or absence of them.
* Poor control of the head and spinal rigidity in the cervical area.
* Respiratory difficulties and cardiac disorders such as arrhythmias and cardiac dilatation, which can both cause a sudden death.
## Genetics[edit]
Mutations on this gene are responsible for congenital muscular dystrophy (CMD), overlapping syndromes related to mutation have also been reported. It is located on the long arm of the chromosome 1 (1q21-q22) and encodes the proteins lamin A and lamin C.[1] These are structural proteins of intermediate filaments that provide stability and strength to the cells. They play an important role in the organization of chromatin and nuclear membrane.[2]
## Diagnosis[edit]
Unlike most muscular dystrophies, lamin A/C CMD does not present a breakdown of muscular fibres caused by muscle degeneration.
The only certain way to diagnose this disease is with molecular techniques like LMNA gene sequencing.
## Treatment[edit]
There is no cure for CMD. Symptoms are managed for each individual and may involve the coordination of several healthcare specialists.[3]
## Prognosis[edit]
There is an open prognosis because this disease has an unknown evolution. The cure of the disease could be found through some advanced therapies such as CRISPR/Cas9.
## See also[edit]
* Muscular dystrophy
## References[edit]
1. ^ Carboni N, Politano L, Floris M, Mateddu A, Solla E, Olla S, Maggi L, Antonietta Maioli M, Piras R, Cocco E, Marrosu G, Giovanna Marrosu M (May 2013). "Overlapping syndromes in laminopathies: a meta-analysis of the reported literature". Acta Myol. 32 (1): 7–17. PMC 3665370. PMID 23853504.
2. ^ Lewin, Benjamin (2001). Genes VII (in Spanish). Madrid: Marbán Libros S.L.
3. ^ Sparks SE. "Congenital Muscular Dystrophy". NORD. National Organization for Rare Disorders. Retrieved September 19, 2018.
## External links[edit]
Classification
D
* ICD-10: G71.2
* OMIM: 613205
* MeSH: C567708
External resources
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*[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
|
LMNA-related congenital muscular dystrophy
|
c2750785
| 24,931 |
wikipedia
|
https://en.wikipedia.org/wiki/LMNA-related_congenital_muscular_dystrophy
| 2021-01-18T19:02:34 |
{"gard": ["12585"], "mesh": ["C567708"], "umls": ["C2750785"], "orphanet": ["157973"], "wikidata": ["Q27835675"]}
|
## Clinical Features
Robinow et al. (1986) observed the Robin sequence (micrognathia, retroglossia, and U-shaped posterior cleft palate) in association with oligodactyly in a mother and son. Meinecke and Wiedemann (1987) expressed the opinion that this disorder is the same as that named 'postaxial acrofacial dysostosis syndrome' (263750) by Miller et al. (1979). Robinow et al. (1987) questioned that the 2 conditions are identical. They did accept the identity of the single case reported by Meinecke and Wiedemann (1987).
Limbs \- Oligodactyly Mouth \- Robin sequence \- Micrognathia \- Retroglossia \- U-shaped posterior cleft palate Inheritance \- Autosomal dominant \- ? same as postaxial acrofacial dysostosis syndrome (263750) ▲ 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
|
PIERRE ROBIN SYNDROME AND OLIGODACTYLY
|
c1868309
| 24,932 |
omim
|
https://www.omim.org/entry/172880
| 2019-09-22T16:36:14 |
{"mesh": ["C535688"], "omim": ["172880"], "orphanet": ["3104"], "synonyms": ["Alternative titles", "ROBIN SEQUENCE AND OLIGODACTYLY"]}
|
Auditory arrhythmia is the inability to rhythmically perform music, to keep time, and to replicate musical or rhythmic patterns. It has been caused by damage to the cerebrum or rewiring of the brain.[1]
## Contents
* 1 Characteristics
* 2 Neurological bases of music
* 3 Similar diagnoses
* 4 Rhythmic problems in animals other than humans
* 5 Auditory processing in those with autism
* 6 Recent research
* 7 References
## Characteristics[edit]
An individual with this condition has an especially difficult time maintaining a steady beat, and even has difficulty following along to a steady rhythm. Before it was a known disorder, it was thought that these individuals were just severely uncoordinated, and therefore were unable to follow along with the music. It has been discovered recently that problems with rhythm in schizophrenia, Parkinson's disease, and attention deficit hyperactivity disorder are also found to have a correlation to rhythm deficiencies.[2]
## Neurological bases of music[edit]
The cerebellum houses the center for fine motor skills. These are needed in order to play the instrument.[citation needed]
The temporal lobe and the frontal lobe are necessary for listening and recalling different musical aspects from lyrics, reading the music, and performing.
Memory centers are primarily located in the hippocampus, and the process of listening to music originates there.
Neuroplasticity allows the brain to grow and change, especially in the auditory and motor cortex. Listening and playing music helps both of these areas of the brain to develop more, which was found to be correlated to having an improves auditory imagery in many performers in a study conducted at Utrecht University in the Netherlands.[3]
## Similar diagnoses[edit]
Auditory arrhythmia can also be confused with something called beat deafness. Beat deafness is a form of congenital amusia, which is a person's inability to move in time to the music, or feel a musical rhythm. It is believed by researchers that beat deafness stems from a connection problem between the brain's auditory cortex and inferior frontal lobe. A postdoctoral researcher with the International Laboratory for Brain, Music, and Sound Research at the University of Montreal studied a case where a man could not feel a rhythm in any sense. Not only did he have difficulty dancing, but he was unable to tap his foot or snap his fingers along with the beat of the music.[1] The major difference between beat deafness and auditory arrhythmia, however, is that beat deafness is most likely something you are born with, whereas the arrhythmia most likely comes from damage, which was the case in the research done on "Mathieu," the first known case of beat-deafness.[4] In another case, a former musician known as H.J. suffered damage from a temporoparietal infarct, which is an area of dead tissue due to lack of adequate blood supply. The infarct was believed to have been caused by a problem during a coronary angiography, which is a test to show the insides of an individual's coronary arteries. H.J. suffered difficulties with creating a steady beat, an inability to distinguish between different sets of rhythms, and also experienced difficulties when playing his instruments.[1]
## Rhythmic problems in animals other than humans[edit]
Research was conducted on birds such as the Zebra Finch because this species has parallels to humans' vocal learning patterns and neurological structures. Adult zebra finches were placed in similar conditions, all exposed to nine rhythmic and nine arrhythmic songs for 30 second increments. After the stimulus was presented, the brains were studied for areas of high ZENK concentration, ZENK being an immunohistochemical used to detect neural activation. It was found in the finches that those exposed to the arrhythmic music had much higher levels of the ZENK gene, and it has been discovered that there is a correlation with humans having higher brain activity in these locations with arrhythmic functioning. Gaining an understanding of how to change the deficiencies in these animals can help lead to changes in the future for humans with auditory arrhythmia and other serious psychiatric disorders.[2]
## Auditory processing in those with autism[edit]
Those diagnosed with autism tend to have many difficulties processing auditory stimuli. For example, they most often endure language and speech delays, hyperacusis, have difficulties communicating in large social groups, and may experience difficulties hearing certain voices in a noisy environment. These qualities make quality of life difficult, by inhibiting their ability to fully participate in social and educational circumstances in various parts of their lives. As shown in research published in the International Journal of Psychophysiology, efferent pathways throughout the brain help to control various functions throughout the body. For example, in those with autism, pathways running through to the middle ear muscles make it difficult for the person to focus on a single voice when there is a lot of background noise. Raising eyelids was also found to hinder the stapedius muscle by tensing it, which in turn makes it difficult for these individuals to hear other talking when there is background noise present. The laryngeal and pharyngeal muscles located in the throat make prosody and intonation difficult to understand for people with autism. During research, tasks and tests were conducted to see if there is a correlation between cardiac rhythms, respiratory sinus arrhythmias, and auditory processing, or auditory arrhythmia. Because these symptoms tend to go hand in hand, researchers were looking to see if there was a possibility of improving auditory processing. If researchers learn how to effectively improve auditory sensations in people diagnose with autism, then there is a possibility that they can then begin finding the improvement for those only suffering from auditory arrhythmia.[5]
## Recent research[edit]
The Easter Seals Metropolitan Chicago Therapeutic School and Center for Autism Research has conducted studies on auditory processing in individuals with autism.[5] The International Laboratory for Brain, Music, and Sound Research at the University of Montreal has found that beat and tone deafness are likely genetic, and believe that it is because of a miswiring between the auditory cortex and inferior frontal cortex.[4] They were also major researchers on Mathieu's case of beat deafness.[4] Studies conducted at Utrecht University in the Netherlands show that there is an association with an improves ability for auditory imagery and music.[3] McGill University also studied Mathieu's case, along with another individual known as Marjorie. The studies conducted show that true beat deafness is an extremely rare disorder, because out of all the individuals who applied thinking they were beat deaf, Marjorie and Mathieu were the only two.[6] H.J.'s case has been studied in Victoria, Australia at the University of Melbourne and La Trobe University. The data collected caused researchers to believe that the right temporal auditory cortex plays a large role in an individual's ability to maintain a steady rhythm, and has provided a platform for future neuropsychological research.[1]
## References[edit]
1. ^ a b c d Wilson, Sarah J; Pressing, Jeffrey L; Wales, Roger J (2002). "Modelling rhythmic function in a musician post-stroke". Neuropsychologia. 40 (8): 1494–505. CiteSeerX 10.1.1.511.1384. doi:10.1016/S0028-3932(01)00198-1. PMID 11931954.
2. ^ a b Lampen, Jennifer; Jones, Katherine; McAuley, J. Devin; Chang, Soo-Eun; Wade, Juli; Cooper, Brenton G. (26 September 2014). "Arrhythmic Song Exposure Increases ZENK Expression in Auditory Cortical Areas and Nucleus Taeniae of the Adult Zebra Finch". PLoS ONE. 9 (9): e108841. doi:10.1371/journal.pone.0108841. PMC 4178233. PMID 25259620.
3. ^ a b Jun, M.D., Passion (March 7, 2011). "Music, Rhythm and the Brain". Brain World. Brain World. Retrieved February 18, 2015.
4. ^ a b c "Can't feel the rhythm? You may be 'beat-deaf'". The Body Odd. NBC News. Mar 15, 2011. Retrieved February 19, 2015.
5. ^ a b Porges, Stephen W.; Macellaio, Matthew; Stanfill, Shannon D.; McCue, Kimberly; Lewis, Gregory F.; Harden, Emily R.; Handelman, Mika; Denver, John; Bazhenova, Olga V. (November 29, 2012). "Respiratory sinus arrhythmia and auditory processing in autism: Modifiable deficits of an integrated social engagement system?". Psychophysiology of Relationships. 88 (3): 261–70. doi:10.1016/j.ijpsycho.2012.11.009. PMC 3610863. PMID 23201146.
6. ^ Philip, Abby (November 12, 2014). "Why some people just can't dance or clap to the beat". The Washington Post. Retrieved February 21, 2015.
* v
* t
* e
Music psychology
Areas
* Biomusicology
* Cognitive musicology
* Cognitive neuroscience of music
* Culture in music cognition
* Evolutionary musicology
* Psychoacoustics
Topics
* Absolute pitch
* Auditory illusion
* Auditory imagery
* Background music
* Consonance and dissonance
* Deutsch's scale illusion
* Earworm
* Embodied music cognition
* Entrainment
* Exercise and music
* Eye movement in music reading
* Franssen effect
* Generative theory of tonal music
* Glissando illusion
* Hedonic music consumption model
* Illusory continuity of tones
* Levitin effect
* Lipps–Meyer law
* Melodic expectation
* Melodic fission
* Mozart effect
* Music and emotion
* Music and movement
* Music in psychological operations
* Music preference
* Music-related memory
* Musical gesture
* Musical semantics
* Musical syntax
* Octave illusion
* Relative pitch
* Sharawadji effect
* Shepard tone
* Speech-to-song illusion
* Temporal dynamics of music and language
* Tonal memory
* Tritone paradox
Disorders
* Amusia
* Auditory arrhythmia
* Beat deafness
* Musical hallucinations
* Musician's dystonia
* Music-specific disorders
* Tone deafness
Related fields
* Aesthetics of music
* Bioacoustics
* Ethnomusicology
* Hearing
* Melodic intonation therapy
* Music education
* Music therapy
* Musical acoustics
* Musicology
* Neurologic music therapy
* Neuronal encoding of sound
* Performance science
* Philosophy of music
* Psychoanalysis and music
* Sociomusicology
* Systematic musicology
* Zoomusicology
Researchers
* Jamshed Bharucha
* Lola Cuddy
* Robert Cutietta
* Jane W. Davidson
* Irène Deliège
* Diana Deutsch
* Tuomas Eerola
* Henkjan Honing
* David Huron
* Nina Kraus
* Carol L. Krumhansl
* Fred Lerdahl
* Daniel Levitin
* Leonard B. Meyer
* Max Friedrich Meyer
* James Mursell
* Richard Parncutt
* Oliver Sacks
* Carl Seashore
* Max Schoen
* Roger Shepard
* John Sloboda
* Carl Stumpf
* William Forde Thompson
* Sandra Trehub
Books and journals
* Music Perception
* Musicae Scientiae (journal)
* Musicophilia
* Music, Thought, and Feeling
* Psychology of Music (journal)
* The World in Six Songs
* This Is Your Brain on Music
*[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
|
Auditory arrhythmia
|
None
| 24,933 |
wikipedia
|
https://en.wikipedia.org/wiki/Auditory_arrhythmia
| 2021-01-18T19:03:28 |
{"wikidata": ["Q23808025"]}
|
## Clinical Features
Ansar et al. (2003) reported a consanguineous Pakistani family with autosomal recessive nonsyndromic hearing impairment. Affected family members presented with profound prelingual sensorineural hearing impairment affecting all frequencies and used sign language for communication.
Mapping
In a consanguineous Pakistani family segregating autosomal recessive nonsyndromic hearing impairment, Ansar et al. (2003) identified linkage of the disorder to chromosome 6q26-q27. The maximum 2-point lod score was 3.6 (theta = 0.0) with marker D6S1599. Haplotype analysis placed the locus, which the authors designated DFNB38, in a 10.1-cM region between markers D6S980 and D6S1719.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Deafness, sensorineural, prelingual, profound ▲ 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
|
DEAFNESS, AUTOSOMAL RECESSIVE 38
|
c1842381
| 24,934 |
omim
|
https://www.omim.org/entry/608219
| 2019-09-22T16:08:10 |
{"doid": ["0110496"], "mesh": ["C564273"], "omim": ["608219"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
|
## Clinical Features
Megarbane et al. (1998) reported 4 sibs, 3 girls and 1 boy, born to first-cousin Lebanese parents. All 4 children had microcephaly, hearing impairment, scoliosis, dislocated elbows, bowed tibias, and mental retardation. Two of the girls had bilateral cataracts. The male sib had radiographic abnormalities of the hand, including triquetrum-lunate fusion, synostosis between the scaphoid and cuneiform, and shortening of the fourth metacarpal of the left hand. Megarbane et al. (1998) differentiated this condition from otopalatodigital syndrome (311300) by the lack of characteristic facies and clefting, and by the different mode of inheritance. They also ruled out a number of other less similar conditions, including Larsen syndrome (245600), Martsolf syndrome (212720), dyschondrosteosis (127300), and frontometaphyseal dysplasia (305620). The authors proposed that the more severe features seen in the affected male might be the consequence of sex-limiting expressivity. They also concluded that the presence of 4 affected individuals in an otherwise unaffected consanguineous family suggested recessive 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
|
DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION
|
c1864183
| 24,935 |
omim
|
https://www.omim.org/entry/603133
| 2019-09-22T16:13:17 |
{"mesh": ["C566408"], "omim": ["603133"]}
|
Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.
## Epidemiology
Transient (TNDM) and Permanent (PNDM) neonatal diabetes are rare conditions occurring in 1:300,000-400,000 live births.
## Clinical description
TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults. The pancreatic dysfunction may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy. Patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. In TNDM, patients are younger at the diagnosis of diabetes and have lower initial insulin requirements. In PNDM, insulin secretory failure occurs in the late fetal or early post-natal period and does not go into remission. Considerable overlap occurs between the two groups, so that TNDM cannot be distinguished from PNDM based on clinical features. Very early onset diabetes mellitus seems to be unrelated to autoimmunity in most instances.
## Etiology
A number of conditions are associated with PNDM, some of which have been elucidated at the molecular level. Among these, the very recently elucidated mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic KATP channel involved in regulation of insulin secretion, account for one third to half of the PNDM cases.
## Diagnostic methods
Molecular analysis of chromosome 6 anomalies, and the KCNJ11 and ABCC8 genes encoding Kir6.2 and SUR1, provides a tool to identify TNDM from PNDM in the neonatal period. This analysis also has potentially important therapeutic consequences leading to transfer some patients, those with mutations in KCNJ11 and ABCC8 genes, from insulin therapy to sulfonylureas.
## Management and treatment
Recurrent diabetes is common in patients with 'transient'' neonatal diabetes mellitus and, consequently, prolonged follow-up is imperative. Insulin pump may offer an interesting therapeutic tool in this age group in experienced hands.
*[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
|
Neonatal diabetes mellitus
|
c0158981
| 24,936 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=224
| 2021-01-23T18:24:01 |
{"umls": ["C0158981"], "icd-10": ["P70.2"], "synonyms": ["NDM"]}
|
Fungal disease that affects citrus fruit
Citrus black spot
Citrus black spot lesions
Causal agentsPhyllosticta citricarpa[1]
HostsCitrus
EPPO CodeGUIGCI
Citrus black spot is a fungal disease caused by Guignardia citricarpa. This Ascomycete fungus affects citrus plants throughout subtropical climates, causing a reduction in both fruit quantity and quality. Symptoms include both fruit and leaf lesions, the latter being critical to inter-tree dispersal. Strict regulation and management is necessary to control this disease since there are currently no citrus varieties that are resistant.
Citrus black spot
Scientific classification
Kingdom: Fungi
Division: Ascomycota
Class: Dothideomycetes
Order: Botryosphaeriales
Family: Botryosphaeriaceae
Genus: Guignardia
Species:
G. citricarpa
Binomial name
Guignardia citricarpa
Kiely, (1948)
Synonyms
* Phoma citricarpa McAlpine, (1899)
* Phoma citricarpa var. mikan Hara
* Phyllosticta citricarpa (McAlpine) Aa, (1973)
* Phyllostictina citricarpa (McAlpine) Petr., (1953)
## Contents
* 1 Fungus
* 2 Origin
* 3 Hosts
* 4 Fruit Symptoms and Signs
* 4.1 Hard Spot Lesions
* 4.2 False Melanose Lesions
* 4.3 Cracked Spot Lesions
* 4.4 Freckle Spot Lesions
* 4.5 Virulent Spot Lesions
* 5 Leaf Symptoms
* 6 Diagnosis
* 7 Life Cycle
* 8 Management
* 9 Importance
* 10 See also
* 11 References
## Fungus[edit]
Guignardia citricarpa is a plant pathogen, some strains of which cause a leaf condition called black spot on citrus plants.[2] As a result, such strains are subject to phytosanitary legislation in the European Union and the United States.[3]
Metabolite secreted by G. citricarpa have an inhibitory growth effect on some endophytic bacterial species, and stimulatory growth effect on others.[4]
An isolate of G. citricarpa was found to produce the medically important compound, taxol under certain growth conditions.[5]
## Origin[edit]
Citrus Black Spot was first found in Sydney, Australia, in 1879 and then appeared in South Africa along the coast of Natal in 1929. It can be found in many countries around the world. These countries include: Argentina, Australia, Brazil, China, Ghana, Mozambique, Philippines, South Africa, Sub-Saharan Africa, Taiwan, The United States and Uruguay. Whether or not Citrus Black Spot is present in Japan and New Zealand is controversial. In both countries the fungus was thought to have been found, but after further testing it was identified as the non-pathogenic strain, Guignardia mangiferae, rather than the pathogenic strain Guignardia citricarpa which causes Citrus Black Spot.[6] The disease was first reported in North America during March 2010, in Collier and Hendry counties of southern Florida. The range of the disease in North America has remained limited to Southern Florida at present. Florida has taken measures to try to control this disease, however, it is expected to rapidly spread to other areas over the next few years.[7]
## Hosts[edit]
Guignardia citricarpa will infect all types of citrus plants; however, there are some plants that are more susceptible to the pathogen than others. Lemon and late maturing citrus, such as Valencia orange, are the most susceptible hosts. The disease is usually first observed in an area on lemons, due to their high susceptibility to disease. Moderately susceptible hosts are Hamlin sweet oranges, tangerine/ mandarin type fruit, and grapefruit. Though there are some hosts that are more susceptible to Citrus Black Spot than others, any citrus plant that is nutritionally stressed increases its chances of infection.[8]
## Fruit Symptoms and Signs[edit]
### Hard Spot Lesions[edit]
Hard spot lesions on an orange host
Hard spots are the most common lesions. They are small, round, and sunken. The average diameter of hard spot lesions ranges from 3–10 mm (.12-.4 in).[9][10] They have dark red to chocolate brown margins and often have pycnidia in the gray-colored centers.[11] A green halo may be present around the lesion.[12]
### False Melanose Lesions[edit]
False melanose lesions are characterized by many small, tan, slightly raised lesions. The lesions are much smaller than the hard spot variety with an average diameter of less than 1 mm (.04 in).[9][10] They are found on unripe fruit and are difficult to observe later in the season. Unlike hard spot lesions, no pycnidia are present.[11]
### Cracked Spot Lesions[edit]
Cracked spot lesions on a Valencia orange
These lesions occur on both unripe and ripe fruit. They are large, slightly raised, dark brown spots. Cracked spot lesions do not contain pycnidia. They create raised cracks on the fruit surface that can be difficult to see later in the season.[11] Studies have suggested a possible interaction between cracked spot lesions and rust mite colonization.[13]
### Freckle Spot Lesions[edit]
Freckle spot lesions are the early form of virulent spot lesions. They are small, reddish, irregularly shaped, and contain many pycnidia.[10] These lesions are most noticeable during the end of the season, as they are found on mature fruit and during post-harvest storage.
### Virulent Spot Lesions[edit]
The mature stage of freckle spot lesions, they are found on mature fruit and during post-harvest storage. They are similar in appearance to the freckle spot lesions, but under high humidity can cover the entire fruit. Because of this direct damage to the fruit, this type of lesion can be economically devastating.[10]
## Leaf Symptoms[edit]
Leaf symptoms are generally observed on highly susceptible citrus varieties, such as lemons, as well in poorly-managed orchards. The symptoms generally develop from latent infections after the leaves have died. Red-brown, pin-point dots may develop into larger, circular necrotic lesions with gray centers and red or brown margins.[14][15]
## Diagnosis[edit]
To confirm a diagnosis of Citrus Black Spot, the pathogenic fungus must be isolated in culture. This can be difficult, as culturing of the fruit lesions takes up to 14 days with an efficacy of less than 10%. Diagnosis is also complicated by the morphological similarities of the fungal structures to the non-pathogenic strain Guignarida mangiferae. The two species can be distinguished by molecular testing using PCR.[16]
## Life Cycle[edit]
After overwintering in leaf debris, ascostroma begin producing ascospores. Ascospore formation is accelerated by sequential wetting and drying of the leaf litter.[17][18] However, very wet conditions inhibit ascospore development due to leaf decomposition and competition from saprophytes.[19][20] The ascospores are ejected from the fruiting bodies of the fungus during rainfall or irrigation and then dispersed by wind and water.[21] Upon landing on susceptible tissue, the ascospores germinate and form appresoria. (Different tissues are susceptible to infection at different times. Leaves are susceptible up to 10 months of age.[22] Fruits are susceptible during the 4–5 months after fruitset,[9][21] though trees less than ten years old are only susceptible up to 3 months .[23]) Soon after, the infection peg along with mycelia colonize the area between the cuticle and epidermal wall. The symptoms are not visible right away because the infection remains latent, or dormant, until the fruit is mature.[9][10]
The infection in leaves usually remains latent until the leaves drop, but leaf spots may be found on older leaves.[17][24] The leaf lesions usually produce ascospores, but sometimes produce pycnidia.[9][21][25] These pycnidia release pycnidiospores (conidia) in a gelatinous mass.[26] Under wet conditions, the gelatinous mass dissolves and the spores are dispersed by splashes of water.[27] This splash-dispersal method limits reinfection to nearby fruit or leaves of the same tree.[9][18] Fruit infections remain latent until fruit maturity. Upon maturing, the mycelium grows into the outer rind, also known as a flavedo. Here in the flavedo, circular lesions form, which are sometimes accompanied by pycnidia. It is important to note that while ascospores can infect fruit, they have not yet been observed developing on fruit.[17][18][21]
## Management[edit]
There is no resistance to Citrus Black Spot and once a tree has been infected there is no known cure causing tree removal to be the best option. Both federal and state governments[where?] have recommended the following preventative measures. To control Guignardia citriparpa fungicides like copper and/or strobilurins should be applied monthly from early May to the middle of September (in the northern hemisphere). Applications of the fungicides are recommended in early April (northern hemisphere) if that month has experienced more rainfall than usual resulting in the ideal conditions for citrus black spot to form.
Table 1. Recommended Chemical Controls for Citrus Black Spot[28]
Pesticide FRAC MOA2 Mature Trees Rate/Acre1
copper fungicide M1 use label rate
Abound 2.08F3 11 12.4-15.4 fl oz. Do not apply more than 92.3 fl oz/acre/season for all uses. Best applied with petroleum oil.
Gem 25WG3 11 4.0-8.0 oz. Do not apply more than 32 oz/acre/season for all uses.
Gem 500 SC3 11 1.9-3.8 fl oz. Do not apply more than 15.2 fl oz/acre/season for all uses. Best applied with petroleum oil.
Headline3 11 9-12 fl oz. Do not apply more than 54 fl oz/acre/season for all uses. Best applied with petroleum oil.
1)Lower rates can be used on smaller trees. Do not use less than minimum label rate.
2)Mode of action class for citrus pesticides from the Fungicide Resistance Action Committee (FRAC) 20111. Refer to ENY-624, "Pesticide Resistance and Resistance Management," in the 2012 Florida Citrus Pest Management Guide for more details.
3)Do not use more than 4 applications of strobilurin fungicides/season. Do not make more than 2 sequential applications of strobilurin fungicides. [29]
Another method of control is to accelerate the leaf litter decomposition under the trees in citrus groves. Accelerating this decomposition reduces the chance for ascospore inoculation which generally takes place in the middle of March. There are three possible methods to hasten this decomposition. One method is to increase the mircrosprinkler irrigation in the grove to half an hour for at least five days of the week. This form of control should continue for about a month and a half. The second method is to apply urea or ammonium to the leaf litter. The last and final method to accelerate leaf decomposition is to apply lime or calcium carbonate to the litter. Urea, lime, and calcium carbonate reduce the number of fungal structures and spore production.[30] Since the fungus requires wet conditions to thrive, air flow in the citrus grove should be maximized to reduce leaf wetness.[15]
Along with these methods it is also important to get rid of debris such as fallen fruit or twigs in a manner that reduces the chances of infecting other plants. Citrus Black Spot can colonize and reproduce on dead twigs. To dispose of citrus debris it should either be heated to a minimum of 180℉ for two hours, incinerated, buried in a landfill, or fed to livestock. Plant trash should be moved with caution if at all to avoid spreading the infectious ascospores. Any trees that are infected with citrus black spot should be removed from the grove and disposed of. These trees must be removed because those that are declining and stressed will often have off season bloom. If there is more than one age of fruit present on the tree, it is possible for the asexual spores on the older fruits to be transferred to young fruits, thereby intensifying the disease. This off season blooming is often more problematic with Valencia oranges when old and new crops overlap; therefore fruits should be harvested before blooming commences.
## Importance[edit]
Citrus Black Spot has a large economic impact on many countries because the black blemishes make it undesirable for human consumption and therefore the infected fruit cannot be sold. This type of economic impact is felt most in Australia and South Africa where the disease has been present for a number of years.[31] In Australia, South Africa, and China citrus is of particular importance due to the large role it plays in international trade. A few black spots on as little as one piece of fruit can cause the entire shipment to be rejected. When this happens the shipment usually has to be repackaged and resold to a less sensitive market which leads to large financial losses.[6] Along with making fruit unsuitable for sale Citrus Black Spot also causes early fruit drop and reduces crop yield.[8] The reduction in fruit value due to Citrus Black Spot is estimated at 20-30%.[32]
At the end of 2013, the European Commission announced a ban on most imports of citrus fruit from South Africa because of concerns about the possible transmission of Citrus Black Spot to the EU. This ban was justified by a study by the European Food Safety Authority (EFSA) on the risk of transmission. However, a specially convened panel of eminent scientists from Brazil, Argentina, the USA, Uruguay, Australia and South Africa concluded that there is no risk of transmission through fruit to European climates. It argued that Citrus Black Spot has never spread to new areas with fruit as the cause and citrus fruit has never been shown to be the cause of the spread of the disease. The panel pointed out that it is known to occur only in summer rainfall citrus production areas and that the only way it has been spread to new areas has been through infected propagation material moved to areas where the climate is suitable for its establishment.[33]
## See also[edit]
* List of citrus diseases
## References[edit]
1. ^ Wikee, S., Udayanga, D., Crous, P.W., Chukeatirote, E., McKenzie, E.H., Bahkali, A.H., Dai, D. & Hyde, K.D. 2011, "Phyllosticta—an overview of current status of species recognition", Fungal Diversity, vol. 51, no. 1, pp. 43-61
2. ^ "Archived copy" (PDF). Archived from the original (PDF) on 2010-12-02. Retrieved 2014-01-10.CS1 maint: archived copy as title (link)
3. ^ Baayen RP, Bonants PJ, Verkley G, et al. (May 2002). "Nonpathogenic Isolates of the Citrus Black Spot Fungus, Guignardia citricarpa, Identified as a Cosmopolitan Endophyte of Woody Plants, G. mangiferae (Phyllosticta capitalensis)". Phytopathology. 92 (5): 464–77. doi:10.1094/PHYTO.2002.92.5.464. PMID 18943020.
4. ^ Araújo WL, Maccheroni W, Aguilar-Vildoso CI, Barroso PA, Saridakis HO, Azevedo JL (March 2001). "Variability and interactions between endophytic bacteria and fungi isolated from leaf tissues of citrus rootstocks". Can. J. Microbiol. 47 (3): 229–36. doi:10.1139/cjm-47-3-229. PMID 11315114. Archived from the original on 2012-12-16.
5. ^ Kumaran RS, Muthumary J, Hur BK (July 2008). "Taxol from Phyllosticta citricarpa, a leaf spot fungus of the angiosperm Citrus medica". J. Biosci. Bioeng. 106 (1): 103–6. doi:10.1263/jbb.106.103. PMID 18691540.
6. ^ a b [1]
7. ^ "A manageable disease in the Florida Citrus Industry" (PDF). Retrieved 5 December 2012.
8. ^ a b "USDA APHIS | Plant Pests and Diseases".
9. ^ a b c d e f Kotzé, J. M. 2000. Black spot. Pages 23-25 in J. O. Whiteside, S. M. Garnsey, and L. W. Timmer, (eds.). Compendium of Citrus Diseases. American Phytopathological Society, St Paul, MN, USA.
10. ^ a b c d e "Fact Sheet: Citrus black spot - Citrus Diseases". idtools.org.
11. ^ a b c "UF/IFAS Citrus Extension: Plant Pathology". ufl.edu.
12. ^ Dewdney, Megan; et al. "Citrus Black Spot: Identification, Biology and Control". University of Florida. Archived from the original on 17 February 2013. Retrieved 3 December 2012.
13. ^ EPPO. 2009. Guignardia citricarpa. OEPP/EPPO Bulletin 39:318-327, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
14. ^ Wager, V. A. 1952. The black spot disease of citrus in South Africa. Citrus Grower 227:5-12, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
15. ^ a b "Citrus Black Spot". University of Florida. Retrieved 3 December 2012.
16. ^ "Guignardia citricarpa". EPPO Bulletin. 39 (3): 318–327. 2009. doi:10.1111/j.1365-2338.2009.02319.x.
17. ^ a b c Kiely, T. B. 1948. Preliminary studies on Guignardia citricarpa n. sp.: The ascigerous stage of Phoma citricarpa McAlp. and its relation to black spot of citrus. Proceedings of the Linnaeus Society of New South Wales 73:249-292, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
18. ^ a b c Kotzé, J. M. 1981. Epidemiology and control of citrus black spot in South Africa. Plant Disease 65:945-950, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
19. ^ Lee, Y. S., and C. S. Huang. 1973. Effect of climatic factors on the development and discharge of ascospores of the citrus black spot fungus. Journal of Taiwan Agriculture Research 22:135-144, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
20. ^ CABI. 2006. Guignardia citricarpa. Crop Protection Compendium, CD-ROM. CAB International, Commonwealth Agricultural Bureau International (CABI) Wallingford, UK, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
21. ^ a b c d Kotzé, J. M. 1963. Studies on the black spot disease of citrus caused by Guignardia citricarpa Kiely with particular reference to its epiphytology and control at Lebata. Doctoral Thesis, University of Pretoria, Pretoria, South Africa. January, 1963, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
22. ^ Truter, M., P. M. Labuschagne, J. M. Kotzé, L. Meyer, and L. Korsten. 2007. Failure of Phyllosticta citricarpa pycnidiospores to infect Eureka lemon leaf litter. Australasian Plant Pathology 36:87-93, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
23. ^ Kiely, T. B. 1969. Black spot of citrus. Agricultural Gazette of New South Wales 80(12):658- 662.
24. ^ Whiteside, J. O. 1965. Black spot disease in Rhodesia: A review of current information. Rhodesia Agricultural Journal 64:87-91, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
25. ^ McOnie, K. C. 1967. Germination and infection of citrus by ascospores of Guignardia citricarpa in relation to control of black spot. Phytopathology 57:743-746, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
26. ^ Korf, H. J. G. 1998. Survival of Phyllosticta citricarpa, anamorph of the citrus black spot pathogen. Master of Science Thesis, University of Pretoria, Pretoria, South Africa. Dec. 1998.
27. ^ Spósito, M. B., L. Amorim, R. B. Bassanezi, A. Bergamin Filho, and B. Hau. 2008. Spatial pattern of black spot incidence within citrus trees related to disease severity and pathogen dispersal. Plant Pathology 57:103-108, cited in Tara Holtz USDA-APHIS-PPQ-CPHST-PERAL Risk assessment of Citrus spp. fruit as a pathway for the introduction of Guignardia citricarpa Kiely, the organism that causes Citrus Black Spot disease. 2010.
28. ^ Communications, IFAS. "St. Lucie County - UF/IFAS Extension" (PDF). stlucie.ifas.ufl.edu. Retrieved 14 July 2018.
29. ^ "FRAC | Error". Archived from the original on 2012-07-23. Retrieved 2012-11-30.
30. ^ Megan M. Dewdney; Timothy S. Schubert; Mark R. Estes; Natalia A. Peres (2016-05-06). "PP279/CG088: 2014 Florida Citrus Pest Management Guide: Citrus Black Spot". ufl.edu.
31. ^ "Guignardia citricarpa | Datasheet | Plantwise". archive.vn. 2013-04-15. Archived from the original on 2013-04-15. Retrieved 2020-04-04.
32. ^ [2]
33. ^ Agritrade. "Debate on Citrus Black Spot continues". CTA. Archived from the original on 2 October 2014. Retrieved 27 February 2014.
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Taxon identifiers
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*[v]: View this template
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|
Citrus black spot
|
None
| 24,937 |
wikipedia
|
https://en.wikipedia.org/wiki/Citrus_black_spot
| 2021-01-18T18:33:20 |
{"wikidata": ["Q5122880"]}
|
Pityriasis amiantacea
Other namesTinea amiantacea
SpecialtyDermatology
Pityriasis amiantacea is an eczematous condition of the scalp in which thick tenaciously adherent scale infiltrates and surrounds the base of a group of scalp hairs. It does not result in scarring or alopecia.[1]:647
Pityriasis amiantacea was first described by Alibert in 1832.[2] Pityriasis amiantacea affects the scalp as shiny asbestos-like (amiantaceus) thick scales attached in layers to the hair shaft.[3] The scales surround and bind down tufts of hair.[4] The condition can be localised or covering over the entire scalp. Temporary alopecia and scarring alopecia may occur due to repeated removal of hairs attached to the scale. It is a rare disease with a female predilection.[4]
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 See also
* 4 References
* 5 External links
## Diagnosis[edit]
Pityriasis amiantacea can easily be misdiagnosed due to its close resemblance to other scalp diseases such as psoriasis, seborrhoeic dermatitis or lichen planus. However, in pityriasis amiantacea the scales are attached to both the hair shaft and the scalp. Pityriasis amiantacea may be present with other inflammatory conditions such as atopic dermatitis or seborrhoeic dermatitis and sebaceous scales and alopecia can occur. According to Bolognia's textbook "Dermatology,"[5] this rare condition is most often combined with psoriasis, but it may also develop as secondarily infected atopic dermatitis, seborrheic dermatitis, and/or tinea capitis.
## Treatment[edit]
The bacteria staphylococci are present in the majority of cases.[3] Treatment with systemic antibiotics and coal tar shampoo can completely clear the condition when Staphylococcus aureus bacteria are found.[4] Fungal infections such as tinea capitis are known to mimic the symptoms of the condition [6] and can be cleared with antifungal treatment.
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ Alibert JL. La porrigine amiantacea. Monographie des Dermatoses. Paris, France, 1832: 293-5.
3. ^ a b Abdel-Hamid IA, Salah AA, Moustafa YM, El-Labban AM. Pityriasis amiantacea: a clinical and etiopathologic study of 85 patients. Int J Dermatol 2003; 42: 260-4.
4. ^ a b c Raquel M. Shalev, Arnon D. Cohen, Evgeny Medvedovsky, Stella Sashavinsky, Theodore Tchetov and Daniel A. Vardy. Pityriasis Amiantacea Associated with Staphylococcus aureus Super-infection in Bedouin Patients. Microbial Ecology in Health and Disease 2004; 16: 218-221
5. ^ Bolognia et al. Dermatology, Second Edition, pg 122
6. ^ M. Ginarte, M. Pereiro Jr, Virginia Ferna´ndez-Redondo and Jaime Toribio Case Reports. Pityriasis amiantacea as manifestation of tinea capitis due to Microsporum canis. mycoses 2000, 43, 93–96
## External links[edit]
Classification
D
* ICD-10: L44.8 (ILDS L44.870)
* v
* t
* e
Papulosquamous disorders
Psoriasis
Pustular
* Generalized pustular psoriasis (Impetigo herpetiformis)
* Acropustulosis/Pustulosis palmaris et plantaris (Pustular bacterid)
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Other
* Guttate psoriasis
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* 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
*[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
|
Pityriasis amiantacea
|
c0343100
| 24,938 |
wikipedia
|
https://en.wikipedia.org/wiki/Pityriasis_amiantacea
| 2021-01-18T18:37:37 |
{"umls": ["C0343100"], "icd-10": ["L44.8"], "wikidata": ["Q7199562"]}
|
Lupus pernio
Cutaneous lesions of sarcoidosis (lupus pernio). Red-to-purple indurated plaques and nodules affecting the nose and cheeks.
SpecialtyDermatology
Lupus pernio is a chronic raised indurated (hardened) lesion of the skin, often purplish in color. It is seen on the nose, ears, cheeks, lips, and forehead. It is pathognomonic of sarcoidosis.[1]:701 The name "lupus pernio" is a misnomer, as microscopically this disease shows granulomatous infiltration and does not have features of either lupus or pernio.[2]
Lupus pernio is associated with poor outcomes and lower rates of resolution.
Lupus pernio and erythema nodosum are cutaneous manifestation of sarcoidosis, may suggest this disease as a cause of an associated dilated cardiomyopathy, especially with heart block, intraventricular conduction delay, or ventricular tachycardia.
## See also[edit]
* Sarcoidosis
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2011). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-1-4377-0314-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-10: D86.3 (ILDS D86.340)
* ICD-9-CM: 135
External resources
* Orphanet: 481662
* v
* t
* e
Sarcoidosis
* Skin
* Lupus pernio
* Neurosarcoidosis
* Löfgren syndrome
* Heerfordt's syndrome
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
|
Lupus pernio
|
c0024145
| 24,939 |
wikipedia
|
https://en.wikipedia.org/wiki/Lupus_pernio
| 2021-01-18T18:38:40 |
{"mesh": ["C535924"], "umls": ["C0024145"], "icd-9": ["135"], "icd-10": ["D86.3"], "wikidata": ["Q1693919"]}
|
Alimentary toxic aleukia
Other namesAleukia
Alimentary toxic aleukia, is a mycotoxin-induced condition characterized by nausea, vomiting, diarrhea, leukopenia (aleukia), hemorrhaging, skin inflammation, and sometimes death.[1] Alimentary toxic aleukia almost always refers to the human condition associated with presence of T2 Toxin.[citation needed]
## History[edit]
Alimentary toxic aleukia was first characterized in the early 20th century after affecting a large population in the Orenburg Oblast of the former USSR during World War II. The sick people had eaten overwintered grain colonized with Fusarium sporotrichioides and Fusarium poae.[2]
## References[edit]
1. ^ Lutsky, II; Mor, N (1981). "Alimentary toxic aleukia (septic angina, endemic panmyelotoxicosis, alimentary hemorrhagic aleukia): t-2 toxin-induced intoxication of cats". Am J Pathol. 104 (2): 189–91. PMC 1903757. PMID 6973281.
2. ^ Bennett, JW; Klich, M (July 2003). "Mycotoxins". Clin. Microbiol. Rev. 16 (3): 497–516. doi:10.1128/cmr.16.3.497-516.2003. PMC 164220. PMID 12857779.
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
|
Alimentary toxic aleukia
|
c0275070
| 24,940 |
wikipedia
|
https://en.wikipedia.org/wiki/Alimentary_toxic_aleukia
| 2021-01-18T19:07:55 |
{"umls": ["C0275070"], "wikidata": ["Q30314302"]}
|
Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.
Researchers have identified several forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye movement vary among the types, and some types are associated with additional signs and symptoms. People with CFEOM1 and CFEOM2 have only the eye problems described above. In CFEOM1, the eyes typically point downward, whereas in CFEOM2, the eyes usually turn outward.
CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an impaired sense of smell. Some affected individuals develop pain, weakness, or a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.
Brain abnormalities can also occur in people with CFEOM3. Some have abnormal development of the white matter, which is brain tissue containing nerve cell fibers (axons) that transmit nerve impulses. A particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, in which the folds and ridges on the surface of the brain are smaller and more numerous than usual.
Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.
## Frequency
CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has been diagnosed in only one large Turkish family.
## Causes
Several genes involved in CFEOM have been identified. Mutations in the KIF21A gene cause CFEOM1 and rare cases of CFEOM3; mutations in the TUBB3 gene cause CFEOM3 and rare cases of CFEOM1; a mutation in the TUBB2B gene causes CFEOM3 with polymicrogyria; and mutations in the PHOX2A gene cause CFEOM2. The genetic cause of Tukel syndrome is unknown. The CFEOM-related genes are important for growth or development of nerve cells (neurons).
Mutations in the KIF21A, TUBB3, or TUBB2B gene impair a process called axon guidance. Through this process, the specialized extensions of neurons (axons) are directed to their correct positions. Once in the right position, axons relay messages from the brain to muscles and sensory cells and back to the brain, which is critical for controlling muscle movement and detecting sensations such as touch, pain, and heat. As a result of these mutations, axons do not reach their proper locations. Nerves in the head and face (known as cranial nerves) that control muscles that move the eyes and eyelids are particularly affected, although other nerves can also be involved. Abnormal growth of cranial nerves impairs extraocular muscle function and leads to the characteristic features of CFEOM, including restricted eye movement and droopy eyelids. Problems with other nerves likely underlie additional neurological features in people with CFEOM3.
The protein produced from the PHOX2A gene is involved in neuron development, particularly of cranial nerves III and IV, which are necessary for normal eye movement. Mutations likely eliminate the function of the PHOX2A protein, which prevents the normal development of these cranial nerves and impairs control of the extraocular muscles.
Studies suggest that a gene associated with Tukel syndrome may be located near one end of chromosome 21. Some people with features of CFEOM do not have mutations in the genes mentioned above, indicating that other genes that have not been identified may also be involved in the condition.
### Learn more about the genes associated with Congenital fibrosis of the extraocular muscles
* KIF21A
* PHOX2A
* TUBB2B
* TUBB3
## Inheritance Pattern
The different types of CFEOM have different patterns of inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Tukel syndrome also appears to have an autosomal recessive pattern of inheritance, although the genetic change responsible for this disorder is unknown.
*[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
|
Congenital fibrosis of the extraocular muscles
|
c1851102
| 24,941 |
medlineplus
|
https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/
| 2021-01-27T08:25:43 |
{"gard": ["12590"], "mesh": ["C567739"], "omim": ["135700", "602078", "600638", "609428"], "synonyms": []}
|
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: "Spondylopathy" – news · newspapers · books · scholar · JSTOR (June 2019)
Spondylopathy
SpecialtyRheumatology
Spondylopathies are disorders of the vertebrae. When involving inflammation, it can be called spondylitis. In contrast, a spondyloarthropathy is a condition involving the vertebral joints, but many conditions involve both spondylopathy and spondyloarthropathy.
Examples include ankylosing spondylitis and spondylosis.
## See also[edit]
* Dorsopathies
* Spondyloarthropathy
* Spondylolisthesis
* Spondylosis
* Spondylitis
* Spondylolysis
## References[edit]
## External links[edit]
Classification
D
* ICD-10: M45-M49
* ICD-9-CM: 720-724
* 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
This article about a disease of musculoskeletal and connective tissue 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
|
Spondylopathy
|
c0037933
| 24,942 |
wikipedia
|
https://en.wikipedia.org/wiki/Spondylopathy
| 2021-01-18T18:50:53 |
{"mesh": ["D013122"], "icd-9": ["723", "722", "720", "724", "721"], "icd-10": ["M48", "M45", "M46", "M49", "M47"], "wikidata": ["Q7578962"]}
|
Dream-like fantastic delusional state (psychopathological syndrome)
Oneiroid syndrome
Pronunciation
* [ə(ʊ)ˈnʌɪɹɔɪd ˈsɪndɹoʊm]
SpecialtyPsychiatry
SymptomsVivid scenic hallucinations, pseudohallucinations, catatonic symptoms (mutism, waxy flexibility, negativism), delusions, disorientation in place, time, self, double orientation, stupor or sub-stupor
DurationA few weeks or days
CausesCatatonic schizophrenia
Diagnostic methodBased on symptoms
Differential diagnosisDelirium
Oneiroid syndrome (OS) is a condition involving dream-like disturbances of one's consciousness by vivid scenic hallucinations, accompanied by catatonic symptoms (either catatonic stupor or excitement), delusions, or psychopathological experiences of a kaleidoscopic nature. The term is from Ancient Greek "ὄνειρος" (óneiros, meaning "dream") and "εἶδος" (eîdos, meaning "form, likeness"; literally dream-like / oneiric or oniric, sometimes called "nightmare-like"). It is a common complication of catatonic schizophrenia, although it can also be caused by other mental disorders. The dream-like experiences are vivid enough to seem real to the patient.[1] OS is distinguished from delirium by the fact that the imaginative experiences of patients always have an internal projection.[1] This syndrome is hardly mentioned in standard psychiatric textbooks, possibly because it is not listed in DSM.[2]
## Contents
* 1 History
* 2 Use of term
* 3 ICD-9 adapted for the Soviet Union
* 4 Clinical characteristics
* 4.1 Catatonic disorder due to oneiroid syndrome
* 4.2 Prognosis
* 4.3 Lethal catatonia
* 5 Causes
* 6 Stages of the oneiroid syndrome
* 7 Electroencephalography
* 8 See also
* 9 References
* 10 Further reading
## History[edit]
An example of an oneiroid hallucination. Patients will actually see such vivid visions in an oniroid state.
The German physician Wilhelm Mayer-Gross first described oneiroid states in 1924. Mayer-Gross's 1924 dissertation "Self-descriptions of Confusional States: the Oneiroid Form of Experience" (German: Selbstschilderungen der Verwirrtheit: die Oneiroide Erlebnisform) is considered to be the first monograph discussing oneiroid states.[3] It is the psychopathological method (known to German psychiatrists as the "phenomenological method" – phänomenologische Methode).[3]
## Use of term[edit]
The term "oneiroid syndrome", while generally known to European and Russian psychiatrists, remains largely unfamiliar in the United States.[2]
## ICD-9 adapted for the Soviet Union[edit]
Included in the 9th edition of Manual of the International Statistical Classification of Diseases, Injuries, and Causes of Death, adapted for the USSR (ICD-9, 1983), were two diagnoses of oneiroid states in section 295.2 (catatonic schizophrenia):
* ICD-9 code 295.24: oneiroid catatonia as a variant of shiftlike progressive schizophrenia (Russian: кататония онейроидная как вариант шубообразной шизофрении);
* ICD-9 code 295.25: oneiroid catatonia as a variant of recurrent schizophrenia (Russian: кататония онейроидная как вариант периодической шизофрении).
According to Soviet psychiatric research, oneiroid syndrome occurs alongside catatonic schizophrenia in the great majority of cases. The catatonic phenomena in catatonic schizophrenia (code F20.2) may be combined with oneiroid syndrome, as it is written in the current version of the ICD-10.
## Clinical characteristics[edit]
Oneiroid syndrome is characterized by the extraordinary and fantastical nature of its psychotic experiences.[4] Characteristic to the condition are mixed feelings, conflicted thoughts, contradictory experiences and actions, a sense of dramatic changes in the world, and simultaneous feelings of triumph and catastrophe.[4] Oneiroid syndrome is often accompanied by frequent hallucinations and pseudohallucinations, as well as visual illusions.[4] Patients do not identify the perceived phenomena as belonging to the real world, but rather as belonging to other realms or spheres, which cannot be observed or accessed by ordinary people.[4] Patients often participate mentally in narratives of considerable detail and drama, sometimes with the ability to observe themselves from the outside.[4] Their actual behavior, however, does not typically reflect the richness of their experience at the time in which it is occurring.[4]
A patient with oneiroid syndrome will often experience unusual and colourful pseudohallucinations.[1] The environment may be perceived as having been specially set as for a show.[1] Some patients in an oneiroid state might believe that during such an experience their lives are staged shows; in this case it is similar to the Truman Show delusion.
There is often disorientation regarding place and time, as well as a double-awareness of oneself: a patient might be aware simultaneously that he or she is in the hospital, as well as a participant in a fantastical narrative.[1] Individuals surrounding the patient may also be perceived by the patient as being participants in the same narrative, and might be regarded as either friendly or hostile.[1]
A patient might be aware of his or her actual environment and fantastical narrative simultaneously, with the former being integrated into the latter.
The behavior of a patient who is in an oneiroid state sharply contrasts with his or her fantastic pseudohallucinatory symptoms – patients usually lie motionless in bed, with closed eyes, sometimes making "smooth flying" movements with their hands, watching their fantastic adventures as if from the outside.[1] Patients often experience distortions of time of immense proportions: for example, a patient may report that he or she has been flying for several light years, and that during that time, he or she died several times and was raised from the dead by cloning, with each of the clones living for several hundred years.[1] Sometimes, patients do not lie on their bed, but instead wander thoughtfully through the mental institution with an "enchanted smile," withdrawn into themselves.[1] At times, they are capable of directly reporting their fantastical experiences. At their height, single catatonic symptoms can appear in the form of, for example, catalepsy or sub-stupor. The themes of oneiroid experience are derived from the patient's own experiences, from books, fantasy, or films of appropriate content (probably, that is why the story of the experiences is different for all).[1]
### Catatonic disorder due to oneiroid syndrome[edit]
Catatonic stupor can be accompanied by a clear consciousness – lucid catatonia, or with a disorder of consciousness – oneiroid catatonia. Oneiroid catatonia combines with dream-like experiences, and a patient only communicates with people after the end of the episode of stupor (contact with a patient actively experiencing oneiroid catatonia is often very difficult and useless).
Patient's movements often become restricted, becoming catatonic for a short period: stereotypies – body-rocking, head banging, mutism, negativism (failure to cooperate or the active subversion of demands made of the patient), waxy flexibility, impulsive actions.[4] Sometimes the patient's speech is completely incoherent, but sometimes they are able to answer questions, offering an opportunity for a physician to identify the nature of the patient's disorientation.[4] Patients can be disoriented not only with respect to place and time, but also can be disoriented with respect to themselves and their own personality.[4]
Oneiroid syndrome most often occurs as the manifestation of an acute episode of schizophrenia.[4] The duration of the oneiroid period is limited to a few weeks or days.[1] The first signs of the beginning of a psychotic episode are sleep disorders and a growing sense of anxiety.[4] The patient's concerns quickly reaches a level of total bewilderment.[4] Vivid emotions and the phenomena of derealization serves as the basis for fragmentary, unsystematized delusions (acute picturesque delusion).[4]
The initial fear is soon replaced by an affect of amazement or sheer ecstasy.[4] Patients quiet down, looking around with a keen interest in their surroundings, and become excited by colors and sounds.[4] Later, patients develop catatonic stupor or catatonic agitation.[4] The duration of the oneiroid episode. Often, spontaneous recovery occurs within a few weeks of onset.[4] The termination of the psychosis is gradual: hallucinations disappears very quickly, but catatonic phenomena and irregular behavior sometimes persist for a long time.[4] After the end of the psychosis, patient can describe some fragments of their psychopathological experiences, but this story is usually inconsistent.[4]
An oneiroid-schizophrenic state also can be induced by the Kandinsky-Clérambault syndrome.[5] This is typical for people with paranoid schizophrenia who also suffer from the oneiroid syndrome.
After leaving the oneiroid state, the patient may remember their fantastic experiences, but suffer amnesia about the real events that occurred in his life during this psychotic episode. Residual delusion may persist for a few days afterward.
### Prognosis[edit]
Oneiroid catatonia is one of the most favorable schizophrenic psychoses, it poses minimal complications in the aftermath of an episode, and a patient can undergo treatment and recover without significant personality changes.[4]
### Lethal catatonia[edit]
During extremely strong breaks of consciousness, a patient may very rarely develop hyperthermia, accompanied by an increasing cerebral edema and impaired cardiac activity (known as "febrile schizophrenia" in Russia and "lethal catatonia" in the west).[4] The immediate initiation of intensive therapy can now save most of these patients.[4]
The use of antipsychotics in lethal catatonia is considered ineffective.[6] and very dangerous. Instead, psychiatrists recommend the use of benzodiazepines, symptomatic therapy, as well as dantrolene,[7] bromocriptine,[7] ketamine and amantadine[8] for treatments of this condition.
## Causes[edit]
The exact causes of oneiroid syndrome are unknown. However, it is pathologically connected to the following conditions:
* Edogenous diseases: schizophrenia (especially catatonic schizophrenia).
* Exogenous organic diseases: infectious (encephalitis), intoxication (by hallucinogens, for example), traumatic brain injury, epilepsy, delirium tremens.
Most often, this pathology is noted in schizophrenia (oneiroid catatonia), but sometimes it is described with organic brain lesions and intoxications.[1]
There is no self-consciousness disorder in oneiroid syndrome with exogenous diseases. There are no catatonia phenomena, and the syndrome ends more rapidly.[4] Oneroid syndrome in exogenous organic diseases is evidence of a severe deterioration in the patient's response to the organic disease, and its transition to amential syndrome or mental fog is an even more unfavorable symptom.[4]
Exogenous organic oneiroid is different from schizophrenic oneiroid.[4] In most cases, the described exogenous psychoses occupy an intermediate position between delirium and oneiroid, with a rapid and dynamic development of symptoms and an increase in psychotic symptoms occurring during the evening (as is typical for delirium),.[4] Clinical resolution of such psychoses after deep sleep also points to a case of delirium.[4] All of this allows us to relate these diagnostic categories to have the variants of delirium ("fantastic delirium"). Hallucinogens (LSD, hashish, ketamine) and hormonal preparations (for example, corticosteroids) may cause exogenous oneiroid syndrome.[4]
## Stages of the oneiroid syndrome[edit]
Later in 1961 the Bulgarian psychiatrist S. T. Stoianov studied the dynamics and the course of the oneiroid syndrome in "periodic", or recurrent schizophrenia.[9] In the ICD-9 was a diagnosis 295.79: recurrent schizophrenia without other specifications (also known as periodic schizophrenia or circular schizophrenia). It was deleted from the ICD-10. In the DSM-5 there is no such diagnosis too.
According to this research the syndrome has six stages in its course:
1. initial general-somatic and vegetative disorder
2. delusional mood
3. affective-delusional depersonalisation and derealisation
4. fantastic-delusional and affective depersonalisation and derealisation
5. illusional depersonalisation and derealisation, and
6. catatonic-oneiroid state in the culmination.[10]
## Electroencephalography[edit]
In most of the cases of the oneiroid syndrome, there were crude pathological changes in the electroencephalography (EEG).[11]
## See also[edit]
* Clouding of consciousness
* Delirium
## References[edit]
1. ^ a b c d e f g h i j k l Марилов, В. В. (2002). Общая психопатология: Учебное пособие для студентов высших учебных заведений [General psychopathology: Textbook for students of higher educational institutions] (in Russian). Moscow: Academia. pp. 80–82. ISBN 5-7695-0838-8.
2. ^ a b Kaptsan, A; Miodownick, C; Lerner, V (2000). "Oneiroid syndrome: a concept of use for western psychiatry". The Israel Journal of Psychiatry and Related Sciences. 37 (4): 278–85. PMID 11201932.
3. ^ a b Shorter, E. (2005). A Historical Dictionary of Psychiatry. New York: Oxford University Press. p. 171. ISBN 978-0-19-517668-1.
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 Жариков, Н. М.; Тюльпин, Ю. Г. (2002). Психиатрия: Учебник [Psychiatry: Textbook] (in Russian). Moscow: Медицина = [Medicine]. pp. 171–173.
5. ^ Rotshtein, VG (1965). "On the peculiarities of the Kandinsky-Clérambault syndrome during the oneiroid-schizophrenic state". Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (in Russian). Moscow, Russia. 65 (11): 1704–1709. ISSN 0044-4588. PMID 5876816.
6. ^ Mann SC, Auriacombe M, Macfadden W, Caroff SN, Cabrina Campbell E, Tignol J (2001). "[Lethal catatonia: clinical aspects and therapeutic intervention. A review of the literature]". Encephale (in French). 27 (3): 213–216. PMID 11488250.
7. ^ a b Singerman, Burton; Raheja, Ram (1994). "Malignant Catatonia-A Continuing Reality". Annals of Clinical Psychiatry. CrossRef Test Account. 6 (4): 259–266. doi:10.3109/10401239409149013. ISSN 1040-1237.
8. ^ Northoff, Georg (2010). "Options for the treatment of febrile catatonia". Journal of Psychiatry & Neuroscience. Joule Inc. 35 (4): E5–6. doi:10.1503/jpn.100087. ISSN 1180-4882. PMC 2895149. PMID 20569646.
9. ^ Stoianov S. T. (1961). "О клинических аспектах и психопатологии онейроидных состояний, возникающих в течении шизофрении" [On the clinical aspects and psychopathology of oneiroid states arising during the course of schizophrenia]. Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova (in Russian). 61: 1370–1377. PMID 13917348.
10. ^ Semenov SF, Pashutova EK (1978). "Clinical features and differential diagnosis of puerperal schizophrenic psychoses". Neuroscience and Behavioral Physiology. 9 (1): 39–44. doi:10.1007/bf01182653. PMID 748822.
11. ^ Saĭfulina, A. K.; Chudnovskii, V. S. (1975). "Electroencephalographic findings in mental disorders with an oneiroid syndrome". Zhurnal Nevropatologii I Psikhiatrii Imeni S. S. Korsakova (in Russian). Moscow, Russia. 75 (6): 872–877. ISSN 0044-4588. PMID 1217391.
## Further reading[edit]
* Kaptsan, A; Miodownick, C; Lerner, V (2000). "Oneiroid syndrome: a concept of use for western psychiatry". The Israel Journal of Psychiatry and Related Sciences. 37 (4): 278–285. ISSN 0333-7308. PMID 11201932.
* Mayer-Gross, W. (1924). Selbstschilderungen der Verwirrtheit: die oneiroide Erlebnisform (PDF) (in German). Berlin: Verlag von Julius Springer.
*[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
|
Oneiroid syndrome
|
None
| 24,943 |
wikipedia
|
https://en.wikipedia.org/wiki/Oneiroid_syndrome
| 2021-01-18T18:45:11 |
{"icd-9": ["295.25", "295.24"], "wikidata": ["Q1544517"]}
|
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 16 (NPHS16) is caused by homozygous mutation in the KANK2 gene (614610) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Clinical Features
Gee et al. (2015) reported 3 children from 2 unrelated families with onset of nephrotic syndrome between 2 and 3 years of age. Two sibs, born of consanguineous Arab parents (family A982), had steroid-sensitive nephrotic syndrome, whereas the unrelated patient of European descent (family A1751) had steroid-dependent nephrotic syndrome and hematuria. Renal biopsy of all 3 patients showed minimal change disease. Additional clinical details were not provided, but none had extrarenal manifestations.
Inheritance
The transmission pattern of NPHS16 in the families reported by Gee et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 patients from 2 unrelated families with NPHS16, Gee et al. (2015) identified homozygous missense mutations in the KANK2 gene (S181G, 614610.0002 and S684F, 614610.0003). The mutation in 2 affected sibs in a consanguineous family of Arab descent (family A982) was found by a combination of homozygosity mapping and whole-exome sequencing. The mutation in the unrelated patient (patient A1751-21) was found by direct sequencing of the KANK2 gene in over 1,100 patients with nephrotic syndrome; this was the only patient found to have a KANK2 mutation in that cohort. Injection of either mutation failed to rescue the nephrotic syndrome phenotype in zebrafish with morpholino knockdown of the kank2 gene, suggesting that the mutations result in a loss of function. Wildtype KANK2 was able to partially rescue the edema phenotype in mutant zebrafish. In vitro functional assays suggested that the mutations resulted in dysregulation of RHO GTPase activity and signaling.
Animal Model
Gee et al. (2015) found that morpholino knockdown of the Kank2 gene in zebrafish embryos resulted in increased frequency of periorbital edema and total body edema associated with proteinuria. Pronephric glomeruli in mutant animals showed podocyte foot effacement and disorganization, rarefaction of slit membranes, and disorganization of the glomerular basement membrane, consistent with a nephrosis phenotype. The findings suggested that kank2 is required for normal cytoskeletal structure.
INHERITANCE \- Autosomal recessive GENITOURINARY Kidneys \- Nephrotic syndrome, steroid-dependent \- Renal biopsy shows minimal change disease LABORATORY ABNORMALITIES \- Proteinuria \- Hematuria MISCELLANEOUS \- Onset between 2 and 3 years of age \- Two sibs from a consanguineous Arab family and 1 unrelated child of European descent have been reported (last curated November 2017) MOLECULAR BASIS \- Caused by mutation in the KN motif- and ankyrin repeat domain-containing protein 2 gene (KANK2, 614610.0002 ) ▲ 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
|
NEPHROTIC SYNDROME, TYPE 16
|
c4540453
| 24,944 |
omim
|
https://www.omim.org/entry/617783
| 2019-09-22T15:44:52 |
{"omim": ["617783"]}
|
A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body. Treatment includes surgery to remove the pineocytoma; most of these tumors do not regrow (recur) after surgery.
*[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
|
Pineocytoma
|
c0917890
| 24,945 |
gard
|
https://rarediseases.info.nih.gov/diseases/8207/pineocytoma
| 2021-01-18T17:58:18 |
{"mesh": ["D010871"], "orphanet": ["251912"], "synonyms": ["Pinealocytoma", "Pinealoma"]}
|
A number sign (#) is used with this entry because classic acheiropody (ACHP) as described in Brazil is caused by homozygous mutation in the LMBR1 gene (605522) on chromosome 7q36.
Description
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).
Clinical Features
Toledo and Saldanha (1969) described an inbred Brazilian kindred of Portuguese ancestry in which multiple members had absence of the hands and feet, with the arms and legs ending in stumps. Freire-Maia et al. (1975) stated that at least 22 sibships had been reported, all from Brazil. Consanguinity was found in 82% of parents.
The expressivity of the acheiropodia gene is rather variable (Grimaldi et al., 1983). For example, patients may or may not show a Bohomoletz bone, an elongated small bone in the tip of the upper limb remnant, parallel to the axis of the humerus. The origin of the bone is unclear; in some cases it looks like the proximal part of the ulna, whereas in others it is not sufficiently differentiated to allow identification. Fett-Conte and Richieri-Costa (1990) reported 4 new patients from Brazil, 2 of whom had a Bohomoletz bone.
In peromelia with micrognathism, or the Hanhart syndrome (103300), absence of the hands and feet occurs, making it a form of acheiropody.
Mapping
Escamilla et al. (2000) performed a complete genome screen of 7 members of an extended Brazilian pedigree that included 3 sibs with acheiropodia. Homozygosity mapping was used to identify regions most likely to harbor the gene for acheiropodia in this pedigree. In the 2 key regions (14p and 7q), further genotyping of 1 additional affected member of this pedigree plus 7 additional unaffected sibs provided evidence, through linkage analysis, that the 7q36 region contains the acheiropodia gene. In this region, a maximum 2-point lod score of 3.81 (4.2 with multipoint analysis) was achieved, and a homozygous haplotype spanning a region of 11.7 cM was seen in all affected members of the pedigree. Genotypic analysis of 2 additional cases of acheiropodia with no known relation to the other pedigree studied revealed homozygous sharing of a portion of the same haplotype on 7q36, which reduced the chromosomal location of the acheiropodia gene to an 8.6-cM region. Localization of this gene, at the screening level, by use of data from only 3 affected subjects, provided an example of how certain genes may be mapped by use of a minimal number of affected cases.
Inheritance
The transmission pattern of acheiropody in the families reviewed by Freire-Maia et al. (1975) was consistent with autosomal recessive inheritance.
Molecular Genetics
Ianakiev et al. (2001) identified a homozygous deletion in the human ortholog of the mouse Lmbr1 gene in all 5 Brazilian families with acheiropody studied, thus identifying the common acheiropody mutation; see 605522.0001. One of the families (pedigree 4) had been described by Toledo and Saldanha (1969).
Population Genetics
Freire-Maia et al. (1975) estimated the incidence of acheiropody in Brazil to be 1 in 250,000 births.
Nomenclature
Freire-Maia (1975) strenuously insisted that the name for this disorder should be acheiropodia, not acheiropody, and that it is unnecessary to qualify the disorder as Brazilian. In American English, polydactyly and syndactyly are preferred usage over polydactylia or syndactylia, and use of acheiropody can be defended on the grounds of consistency.
INHERITANCE \- Autosomal recessive SKELETAL Limbs \- Hemimelia \- Congenital quadruple amputation of upper and lower extremities \- Absent forearms \- Complete amputation of distal humeral epiphyses \- Radial aplasia \- Ulnar aplasia \- Bohomoletz bone (ectopic bone at distal end of humerus) \- Amputation of distal tibial diaphyses \- Fibular aplasia Hands \- Absent hands \- Carpal aplasia \- Metacarpal aplasia \- Phalangeal aplasia Feet \- Absent feet \- Tarsal aplasia \- Metatarsal aplasia \- Phalangeal aplasia MISCELLANEOUS \- Majority of cases occur in Brazilian population MOLECULAR BASIS \- Caused by mutation in the homolog of the mouse limb region 1 gene (LMBR1, 605522.0001 ) ▲ 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
|
ACHEIROPODY
|
c0265559
| 24,946 |
omim
|
https://www.omim.org/entry/200500
| 2019-09-22T16:31:40 |
{"doid": ["0050603"], "mesh": ["C536014"], "omim": ["200500"], "orphanet": ["931"], "synonyms": ["Alternative titles", "ACHEIROPODIA", "ACHEIROPODY, BRAZILIAN TYPE"]}
|
Pseudoneurotic schizophrenia
SpecialtyPsychiatry
Pseudoneurotic schizophrenia is a postulated mental disorder categorized by the presence of two or more symptoms of mental illness such as anxiety, hysteria, and phobic or obsessive-compulsive neuroses. It is often acknowledged as a personality disorder.[1] Patients generally display salient anxiety symptoms that disguise an underlying psychotic disorder.[2]
In the 1940s, psychiatrists Paul Hoch and Philip Polatin created the term pseudoneurotic schizophrenia. This mental illness, however, is no longer acknowledged as a clinical entity.[3] In 1972 it went on to be called borderline personality disorder, a term coined by Otto Friedmann Kernberg, which referred to an expansive range of issues.[4]
Pseudoneurotic schizophrenia is in the Russian adapted version of the ICD-10 (code F21.3).[5] It is also in ICD-10 listed as a schizotypal disorder.[6]
## Contents
* 1 Signs and symptoms
* 1.1 Thought disorder
* 1.2 Emotional dysregulation
* 1.3 Sensorimotor and autonomic functioning
* 1.4 Anxiety
* 1.5 Sexuality
* 2 References
* 3 External links
## Signs and symptoms[edit]
The diagnosis of pseudoneurotic schizophrenia can be made with clinical observation and by various psychiatrical exams by a mental health professional and by the patient's explanation of his or her experiences. A patient must identify with at least two of these symptoms in order to be distinguished as a pseudoneurotic schizophrenic. The intensity of a symptom may vary with the individual patient's severity of the disorder. The symptoms are organized into disorders of thinking and association, disorders of emotional regulation, disorders of sensorimotor and autonomic functioning, pan-anxiety, pan-neurosis, and pansexuality. The two symptoms can fall under any of these categories.
### Thought disorder[edit]
* A continuous, purposive thought cannot be carried. Thoughts that are somewhat similar appear to be the same.[7]
* Ability to form and understand concepts is weak. New ideas cannot easily be merged with old concepts. Separate experiences are cultivated as separate concepts despite the fact that combining them would be more natural.
* Fantasy life and real life cannot be distinguished. Real occurrences seem to have been imagined and fantasy thoughts seem to have actually happened.[7]
* Cognizance and concentration is lacking.
* Common instances of urged thought occur.
* Thought blocking, which is the opposite of the previous symptom, has also been reported to be a symptom of pseudoneurotic schizophrenia.
* Disturbances of awareness, attention, anticipation and concentration occur. Unpleasant behavior is not recognized. The idea that one can have effects on others is perplexed.[7]
* Self-perception is altered.
* Anachronism
### Emotional dysregulation[edit]
* Anxiety is provoked with acute ease. An anxiety episode can be stimulated by any change in the patient's activity or location. Anything unfamiliar, an experience or a person, can cause anxiety.
* Several different emotions are expressed simultaneously or in speedy succession. Display of emotions is modulated and unpredictable.[7]
* Patient is apathetic towards commencing, maintaining, and stopping an emotional response.
* Anger is difficult to deal with. Feelings of fear, anger, and guilt are expressed inappropriately and responses are either very volatile or inert.
* Needs are strongly craved, but are bitterly rejected when offered. Provocation is sought and avoided at the same time.
* Anhedonia
* Patient pays either very little or excessive attention to friendly interactions from others.
* In attempt to feel emotion, patient will make a farce of regular demeanor. In doing so, patient may take advantage of others socially, sexually, and intellectually.
* Rejection of emotional feelings takes place because feelings are seen as proof of weakness.
* Patient craves instant satisfaction of all desires and expects immediate fulfillment.
### Sensorimotor and autonomic functioning[edit]
* Sensory perception is flawed, distorting the way the patient sees himself/herself.
* Patient has extreme difficulty choosing and keeping up with consistent and appropriate reactions in social situations. Emotional reactions appear to be either overdramatic or played down.
* Irregular amount of energy is shown. Patient lacks or has too much energy at inappropriate times.[7]
### Anxiety[edit]
Diffuse anxiety is stimulated by a minor catalyst and may persist long after the catalyst disappears.
Pan-Neurosis is the existence of multiple neurotic symptoms such as:
* obsessions
* compulsions
* phobias
* hysteria
* depression
* hypochondriasis
* depersonalization
### Sexuality[edit]
* In order to relieve sexual angst as easily as possible, patient does not base sexual attraction on the gender identity of others.
## References[edit]
1. ^ "pseudoneurotic schizophrenia". TheFreeDictionary.com. Retrieved 2015-11-09.
2. ^ "EBSCO Publishing Service Selection Page". web.b.ebscohost.com. Retrieved 2015-11-09.
3. ^ O'Connor, Karen; Connor, Karen O.; Nelson, Barnaby; Walterfang, Mark; Velakoulis, Dennis; Thompson, Andrew (2009-09-01). "Pseudoneurotic schizophrenia revisited". The Australian and New Zealand Journal of Psychiatry. 43 (9): 873–876. doi:10.1080/00048670903107658. ISSN 1440-1614. PMID 19670061.
4. ^ "Pseudo-neurotic Schizophrenia | Psycho-Babble". www.dr-bob.org. Retrieved 2015-11-09.
5. ^ "ICD-10. Schizophrenia, schizotypal and delusional disorders (F20—F29)" (in Russian). Retrieved 26 November 2016.
6. ^ "ICD-10 Version:2016". icd.who.int. Retrieved 11 January 2020.
7. ^ a b c d e Hoch, Paul H.; Cattell, James P. (1959). "The diagnosis of pseudoneurotic schizophrenia". Psychiatric Quarterly. 33 (1): 17–43. doi:10.1007/BF01659427. ISSN 0033-2720. PMID 14402173.
## External links[edit]
Classification
D
* ICD-10: F21
* ICD-9-CM: 301.22
* MeSH: D012569
External resources
* MedlinePlus: 001525
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
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* Vascular dementia
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Other
* Delirium
* Organic brain syndrome
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Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[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
|
Pseudoneurotic schizophrenia
|
c0033823
| 24,947 |
wikipedia
|
https://en.wikipedia.org/wiki/Pseudoneurotic_schizophrenia
| 2021-01-18T18:39:31 |
{"mesh": ["D012569"], "icd-9": ["295"], "icd-10": ["F21.3"], "wikidata": ["Q7255172"]}
|
Stransky et al. (1962) described a family in which 5 of 7 sibs had this combination. The mother and 2 normal sibs had mild amino aciduria.
Inheritance \- Autosomal recessive Skeletal \- Osteoporosis Metabolic \- Acidosis Lab \- Aminoaciduria (mild in heterozygotes) Growth \- Dwarfism Muscle \- Muscular dystrophy ▲ 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
|
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS
|
c1859818
| 24,948 |
omim
|
https://www.omim.org/entry/204730
| 2019-09-22T16:31:08 |
{"mesh": ["C565960"], "omim": ["204730"]}
|
Intestinal lymphangiectasia is a rare digestive disorder characterized by abnormally enlarged lymph vessels supplying the lining of the small intestine. Affected people may experience intermittent diarrhea, nausea, vomiting, swelling of the limbs and abdominal discomfort. Intestinal lymphangiectasia can be congenital (also called primary intestinal lymphangiectasia or Waldmann disease) in which case it affects children and young adults (mean age of onset, 11 years); it can also be associated with a variety of other conditions and affect older adults. Treatment generally involves control of symptoms with dietary and/or behavioral modifications and the use of certain medications.
*[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
|
Intestinal lymphangiectasia
|
c0024215
| 24,949 |
gard
|
https://rarediseases.info.nih.gov/diseases/12331/intestinal-lymphangiectasia
| 2021-01-18T17:59:45 |
{"mesh": ["D008201"], "orphanet": ["36204"], "synonyms": []}
|
A number sign (#) is used with this entry because familial hyperinsulinemic hypoglycemia-2 is caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11; 600937).
For a phenotypic description and a discussion of genetic heterogeneity of hyperinsulinemic hypoglycemia, see HHF1 (256450).
Clinical Features
Nestorowicz et al. (1997) reported a Palestinian Arab boy, born of first-cousin parents, with severe hyperinsulinemic hypoglycemia diagnosed immediately after birth, which failed to respond to medical treatment with either diazoxide or the somatostatin analog, octreotide, and required near-total pancreatectomy to control hypoglycemia. From birth, he had severe vomiting and diarrhea of unknown etiology, which precluded oral feedings for the first 18 weeks of life, but which subsequently remitted. Nestorowicz et al. (1997) noted that they had observed a similar digestive problem in a patient with hyperinsulinism due to mutations in the ABCC8 gene (600509; see also HHF1, 256450) and stated that this patient was clinically indistinguishable from patients with severe hyperinsulinism caused by mutations in the ABCC8 gene. At age 3.7 years, he had no gross evidence of any neurologic, neuromuscular, or cardiovascular abnormality.
### Focal Adenomatous Hyperplasia
Fournet et al. (2001) reported 4 patients with hyperinsulinemic hypoglycemia due to focal islet cell adenomatous hyperplasia with specific loss of maternal 11p15 region and a paternally inherited mutation of the KCNJ11 gene.
Taneja et al. (2009) reported a Swedish patient with hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia. Resection of the focal hyperinsulinemic area of the pancreas resulted in clinical cure of the patient. They noted that the paternal mutation (600937.0022) affected an endoplasmic reticulum (ER) exit signal in the KCNJ11 gene.
Molecular Genetics
Thomas et al. (1996) screened genomic DNA from members of 15 families with hyperinsulinemic hypoglycemia for mutations in the KCNJ11 gene. In a male infant with profound hypoglycemia, born of consanguineous Iranian parents, Thomas et al. (1996) identified homozygosity for a 649T-C mutation (600937.0001). His parents were heterozygous for the mutation.
Using SSCP and nucleotide sequence analysis, Nestorowicz et al. (1997) screened 78 patients with hyperinsulinism for mutations in the KCNJ11 gene and identified homozygosity for a nonsense mutation (600937.0009) in a Palestinian Arab boy.
In an Israeli Bedouin infant and an Arab infant with hyperinsulinemic hypoglycemia, Tornovsky et al. (2004) identified homozygosity for a mutation in the promoter (600937.0010) and in exon 1 (600937.0011) of the KCNJ11 gene, respectively.
In an infant that presented with macrosomia at birth and severe hyperinsulinemic hypoglycemia, Marthinet et al. (2005) identified a homozygous missense mutation in the KCNJ11 gene (H259R; 600937.0013). Despite medical treatment, the newborn continued to suffer from severe hypoglycemic episodes, and at 4 months of age subtotal pancreatectomy was performed.
Henwood et al. (2005) measured acute insulin responses (AIRs) to calcium, leucine, glucose, and tolbutamide in 22 infants with recessive ABCC8 or KCNJ11 mutations, 8 of whom had diffuse hyperinsulinism and 14 of whom had focal hyperinsulinism. Of the 24 total mutations, 7 showed evidence of residual K(ATP) channel function: 2 of the patients with partial defects were homozygous and 4 heterozygous for amino acid substitutions or insertions, and 1 was a compound heterozygote for 2 premature stop codons.
Pinney et al. (2008) identified 14 different dominantly inherited K(ATP) channel mutations in 16 unrelated families, 13 with mutations in the ABCC8 gene (see, e.g., 600509.0011) and 3 with mutations in the KCNJ11 gene (see, e.g., 600937.0020). The 16 probands presented with hypoglycemia at ages from birth to 3.3 years, and 15 of 16 were well controlled on the K(ATP) channel-agonist diazoxide. Of 29 adults with mutations, 14 were asymptomatic, and only 4 had diabetes. Unlike recessive mutations, dominantly inherited K(ATP) mutant subunits trafficked normally to the plasma membrane when expressed in simian kidney cells; dominant mutations also resulted in different channel-gating defects, with dominant ABCC8 mutations diminishing channel responses to magnesium adenosine diphosphate or diazoxide and dominant KCNJ11 mutations impairing channel opening even in the absence of nucleotides. Pinney et al. (2008) concluded that there are distinctive features of dominant K(ATP) hyperinsulinism compared to the more common and more severe recessive form, including retention of normal subunit trafficking, impaired channel activity, and a milder hypoglycemia phenotype that may escape detection in infancy and is often responsive to diazoxide medical therapy.
Bellanne-Chantelot et al. (2010) analyzed the ABCC8 and KCNJ11 genes in 109 diazoxide-unresponsive patients with congenital hyperinsulinism and identified mutations in 89 (82%) of the probands. A total of 118 mutations were found, including 106 (90%) in ABCC8 and 12 (10%) in KCNJ11; 94 of the 118 were different mutations, and 41 had been previously reported. The 37 patients diagnosed with focal disease all had heterozygous mutations, whereas 30 (47%) of 64 patients known or suspected to have diffuse disease had homozygous or compound heterozygous mutations, 22 (34%) had a heterozygous mutation, and 12 (19%) had no mutation in the ABCC8 or KCNJ11 genes. The authors noted that there appeared to be a predominance of paternally inherited mutations in patients diagnosed with a diffuse form of disease and carrying heterozygous mutations.
INHERITANCE \- Autosomal recessive GROWTH Other \- Large for gestational age ABDOMEN Pancreas \- Islet cell hyperplasia, diffuse ENDOCRINE FEATURES \- Hyperinsulinemic hypoglycemia LABORATORY ABNORMALITIES \- Hypoglycemia \- Hyperinsulinemia MISCELLANEOUS \- Genetic heterogeneity (see HHF1 256450 ) MOLECULAR BASIS \- Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, 600937.0001 ) ▲ 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
|
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
|
c3888018
| 24,950 |
omim
|
https://www.omim.org/entry/601820
| 2019-09-22T16:14:12 |
{"doid": ["0070218"], "mesh": ["D044903"], "omim": ["601820"], "orphanet": ["276603", "79644", "276580"], "synonyms": ["HYPERINSULINISM, CONGENITAL", "Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "Dominant KATP hyperinsulinism due to Kir6.2 deficiency", "PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY", "HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA", "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "HYPERINSULINISM, FAMILIAL", "HYPERINSULINISM, NEONATAL", "HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT", "Alternative titles", "Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form", "NESIDIOBLASTOSIS"], "genereviews": ["NBK1375"]}
|
Grass tetany
Other namesHypomagnesemic tetany, grass staggers, winter tetany
Cow grazing on rapidly grown pasture with tetany of the neck suggesting grass tetany
SpecialtyVeterinary medicine
Grass tetany is a metabolic disease involving magnesium deficiency, which can occur in such ruminant livestock as beef cattle, dairy cattle and sheep,[1] usually after grazing on pastures of rapidly growing grass, especially in early spring.
## Contents
* 1 Symptoms and cause
* 2 Prevention
* 3 Treatment
* 4 Epidemiology
* 5 References
* 6 External links
## Symptoms and cause[edit]
Progressive symptoms may include grazing away from the herd, irritability, muscle twitching, staring, incoordination, staggering, collapse, thrashing, head thrown back, and coma, followed by death. However, clinical signs are not always evident before the animal is found dead.[2]
The condition results from hypomagnesemia (low magnesium concentration in blood) which may reflect low magnesium intake, low magnesium absorption, unusually low retention of magnesium, or a combination of these. Commonly, apparent symptoms develop only when hypomagnesemia is accompanied by hypocalcemia (blood Ca below 8 mg/dL).[3]
Low magnesium intake by grazing ruminants may occur especially with some grass species early in the growing season, due to seasonally low magnesium concentrations in forage dry matter.[4] Some conserved forages are also low in magnesium and may be conducive to hypomagnesemia.[5]
High potassium intake relative to calcium and magnesium intake may induce hypomagnesemia. A K/(Ca+Mg) charge ratio exceeding 2.2 in forages has been commonly considered a risk factor for grass tetany. Potassium fertilizer application to increase forage production may contribute to an increased K/(Ca+Mg) ratio in forage plants, not only by adding potassium to soil, but also by displacing soil-adsorbed calcium and magnesium by ion exchange, contributing to increased susceptibility of calcium and magnesium to leaching loss from the root zone during rainy seasons. In ruminants, high potassium intake results in decreased absorption of magnesium from the digestive tract.[6][7]
Trans-aconitate, which accumulates in some grasses, can be a risk factor for hypomagnesemia in grazing ruminants. (Tetany has been induced in cattle by administration of trans-aconitate and KCl, where the amount of KCl used was, by itself, insufficient to induce tetany.[8]) Relatively high levels of trans-aconitate have been found in several forage species on rangeland sites conducive to hypomagnesemia.[9] Although at least one rumen organism converts trans-aconitate to acetate,[10] other rumen organisms convert trans-aconitate to tricarballylate, which complexes with magnesium.[11] Using rats as an animal model, oral administration of tricarballylate has been shown to reduce an animal's magnesium retention.[12] Potassium fertilizer application results in increased concentration of aconitic acid in some grass species.[13]
## Prevention[edit]
Magnesium supplements are used to prevent the disease when ruminants, for obvious economic reasons, must have access to dangerous pastures.
## Treatment[edit]
The affected animal should be left in the pasture, and not forced to come back to stall because excitation can darken the prognosis, even after adequate treatment.[14]
Intravenous mixed calcium and magnesium injection are used. Subcutaneous injection of magnesium sulfate (200 ml of 50% solution) is also recommended.[3]
## Epidemiology[edit]
In Northern Europe, the disease occurs after winter housing. But in Australia and New Zealand, where the cows are not housed, the disease occurs in similar conditions, when the animal enters lush, grass-dominant pastures.[15] In North America, grass tetany occurs most commonly when range stock are moved onto lush early pasture or when housed stock are turned out onto such pasture in the spring. A second high-risk period may occur in the fall. Although cereal grasses (e.g. winter wheat) and crested wheatgrass may be especially conducive to grass tetany, the problem can also occur with several other grass species. "Winter tetany" may occur with some silages,[3] low-magnesium grass hays, or corn stover.[16]
## References[edit]
1. ^ Mayland, H. F. 1988. Grass tetany. In: Church, D. C. (ed.). The ruminant animal: digestive physiology and nutrition. Prentice-Hall, Englewood Cliffs, N. J. pp. 511-523.
2. ^ Grass tetany. Kansas State Univ. Research and Extension, Forage Facts series. http://www.ksre.ksu.edu/forage/pubs/97notebook/fora15.pdf Archived 2014-07-14 at the Wayback Machine
3. ^ a b c Kahn, M. A. (ed.) 2005. Merck veterinary manual. 9th Ed. Merck & Co., Inc., Whitehouse Station.
4. ^ Rendig, V. V. and D. L. Grunes (eds.) 1979. Grass tetany. ASA Spec. Publ. 35, Am. Soc. Agron., Madison, Wisc. 175 pp.
5. ^ Mehren, M. Winter tetany and grass tetany http://www.oregonfeed.org/mehren_art_0205.htm Archived 2014-07-14 at the Wayback Machine
6. ^ Wylie, M. J., J. P. Fontenot and L. W. Greene. 1985. Absorption of magnesium and other macrominerals in sheep infused with potassium in different parts of the digestive tract. J. Anim. Sci. 61: 1219–1229
7. ^ Schonewille, J. T., A. T. Van't Klooster, H. Wouterse and A. C. Beynen. 1999. Effects of intrinsic potassium in artificially dried grass and supplemental potassium bicarbonate on apparent magnesium absorption in dry cows. J. Dairy Sci. 82: 1824–1830.
8. ^ Bohman, V. R., A. L. Lesperance, G. D. Harding and D. L. Grunes. 1969. Induction of experimental tetany in cattle. J. Anim. Sci. 29: 99-102.
9. ^ Stout, P.R., J. Brownell and R. J. Burau. 1967. Occurrences of trans-aconitate in range forage species. Agron. J. 59: 21-24.
10. ^ Cook, G. M., J. E. Wells and J. B. Russell 1994. Ability of Acidaminococcus fermentans to oxidize trans-aconitate and decrease the accumulation of tricarballylate, a toxic end product of ruminal fermentation. Appl. Env. Microbiol. 60: 2533–2537.
11. ^ Russell, J. B. 1985. Enrichment and isolation of rumen bacteria that reduce trans-aconitic acid to tricarballylic acid. Appl. Env. Microbiol. 49: 120-126.
12. ^ Schwartz, R., M. Topley and J. B. Russell. 1988. Effect of tricarballylic acid, a nonmetabolizable rumen fermentation product of trans-aconitic acid, on Mg, Ca and Zn utilization of rats. J. Nutr. 118: 183-188.
13. ^ Grunes, D. L., J. W. Huang, F. W. Smith, P. K. Joo and D. A. Hewes. 1992. Potassium effects on minerals and organic acids in three cool-season grasses. J. Plant Nutr. 15: 1007–1025.
14. ^ Gustav Rosenberger (1978). Krankheiten des Rindes (2nd ed.). Berlin: Verlag Paul Parey. pp. 1024–1037 (Weidetetanie). ISBN 3-489-61716-9.
15. ^ D.C. Blood, J.A. Henderson, O.M. Radostits (1979). Veterinary Medicine (5th ed.). London: Baillière Tindall. pp. 841–847 (Lactation Tetany). ISBN 0-7020-0718-8.CS1 maint: uses authors parameter (link)
16. ^ Allison, C. 2003. Controlling grass tetany in livestock. New Mexico State Univ. Coop. Ext. Serv. Guide B-809. http://aces.nmsu.edu/pubs/_b/B-809.pdf
## External links[edit]
Classification
D
* Related page of the Merck Veterinary Manual
*[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
|
Grass tetany
|
c3887522
| 24,951 |
wikipedia
|
https://en.wikipedia.org/wiki/Grass_tetany
| 2021-01-18T18:56:12 |
{"wikidata": ["Q354896"]}
|
A number sign (#) is used with this entry because susceptibility to childhood absence epilepsy-5 (ECA5) can be conferred by heterozygous mutation in the GABRB3 gene (137192) on chromosome 15q.
For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131.
Clinical Features
Tanaka et al. (2008) reported 4 unrelated families of Mexican or Honduran origin with childhood absence epilepsy inherited in an autosomal dominant pattern with incomplete penetrance. Age at onset ranged from 2 to 11 years and was characterized by staring, often with eyelid myoclonias and photic sensitivity. Some patients also had generalized tonic-clonic seizures. Absences and accompanying seizures disappeared after 12 years of age in all 4 probands. In 1 family, 2 clinically unaffected family members had epileptiform EEG abnormalities.
Molecular Genetics
Urak et al. (2006) screened 45 childhood absence epilepsy (CAE) patients for sequence variations in the GABRB3 gene. The authors defined 4 haplotypes between the promoter region and intron 3. A transmission disequilibrium test demonstrated significant association of this region and CAE (P = 0.007). Reporter gene assays indicated that the disease-associated haplotype 2 promoter caused significantly lower transcriptional activity than the haplotype 1 promoter, which was overrepresented in the controls. In silico analysis suggested that an exchange from T to C within haplotype 2 may impair binding of the neuron-specific transcriptional activator N-Oct-3 (POU5F1; 164177). Electrophoretic mobility shift assays demonstrated that the respective polymorphism reduced the binding of N-Oct-3. The authors proposed that reduced expression of GABRB3 could be one potential cause for the development of CAE.
In affected members of 4 (8%) of 48 families with childhood absence epilepsy, Tanaka et al. (2008) identified 3 different heterozygous mutations in the GABRB3 gene (137192.0002-137192.0004) Several mutation carriers were unaffected, indicating incomplete penetrance. The authors noted that patients with Angelman syndrome (105830) and deletion of the GABRB3 gene also show absence 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
|
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
c2677087
| 24,952 |
omim
|
https://www.omim.org/entry/612269
| 2019-09-22T16:02:01 |
{"omim": ["612269", "600131"], "orphanet": ["64280"], "synonyms": ["Pyknolepsy"]}
|
## Description
Hereditary distal onycholysis is an autosomal dominant nail disorder characterized by a decreased rate of growth of the nail, scleronychia, and a straight or concave proximal edge of detachment. Clinical features may include palmoplantar hyperhydrosis and marked sensitivity of the fingers to cold (summary by Bazex et al., 1990). Hereditary distal onycholysis is referred to here as nonsyndromic congenital nail disorder-5 (NDNC5).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Clinical Features
Schulze (1966) described a mother and 2 children with onycholysis of the distal part of the fingernails, which were thickened. The disease was thought to have occurred in 5 generations. Bazex et al. (1990) stated that all fingernails and toenails were involved in the family described by Schulze (1966), and that the partial onycholysis was associated with a slowing of nail growth, thick and hard nails (scleronychia) as well as increased transverse curvature in some nails, and absent lunulae. Affected individuals complained of extreme sensitivity to cold and pressure with paresthesia but no Raynaud phenomenon (179600). Palmoplantar hyperhidrosis of variable severity was found in all patients, and painful fissures occurred on the soles. Examination of skin, teeth, hair, and mucosa was normal except for thinning of eyebrows in 1 patient with lanugo-like hair.
Hundeiker (1969) described a family in which a mother and daughter and the mother's father had distal onycholysis of the nails of the fifth toes. The disorder developed in the second year of life, beginning with longitudinal furrows on the middle and lateral thirds of the nail followed by splitting, which began at the free edge and progressed proximally to the nail fold. The nail splitting was present bilaterally in the mother and daughter and unilaterally in the mother's father.
Burg (1975) reported a pedigree in which the proband had involvement of all fingernails and toenails, with changes occurring gradually over 10 years. The fingernails were smooth and thickened with an increased transverse curvature, and were slightly elevated and separated from the nail bed in the distal half. The nail color distally was a waxy dull yellow, whereas proximally the color was normal, translucent and pale pink. Similar changes were present in the toenails, associated with more prominent onychodystrophy and subungual hyperkeratosis. Nail growth rate was said to be normal. No changes were observed in the hair or mucous membranes or the remainder of the skin. The proband's father, paternal aunt, paternal grandmother, and father's cousin had similar changes in their nails.
Bazex et al. (1990) described a 51-year-old woman who first noted distal onycholysis of the fingernails at age 25 years, with involvement of the toenails at age 40. The shape of the nails was unchanged except on the third fingers, which had increased transverse curvature. There was swelling of the proximal nailfold on the right index finger and an accentuation of longitudinal ridging on the right third finger. Lunulae were absent except on the thumbs. There was a slight decrease in brightness of the attached portions of the nail plate, with color varying from pale gray to pink. The proximal border of onycholysis was straight or concave and the nail plates were opaque, yellowish-white, brownish, or sometimes blackish on the lateral edges. The degree of separation varied from nail to nail. Nail growth was slower than normal, and the nails were thick and hard to cut. The onycholysis was less marked on the feet and mainly affected the great toes. The changes were intermittent with frequent relapses. Examination of the hands and feet showed palmoplantar hyperhidrosis. The patient reported marked sensitivity to cold with subungual paresthesia, but there was no Raynaud phenomenon. Repeated mucologic and bacteriologic examinations were negative. Histologic study of a nail fragment showed normal structure of the nail plate, with parakeratosis in the hyponychium. X-rays of the hands and feet were normal; scalp, mucous membranes, eyes, ears, and hair were normal, and microscopic examination of the hair was normal. The proband's mother, maternal grandmother, and the mother's cousin had similar nail changes, but her mother did not have hyperhidrosis.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Palmoplantar hyperhidrosis (in some patients) \- Fissures of soles (in some patients) \- Sensitivity to cold with paresthesias Nails \- Onycholysis of distal nails \- Discoloration of distal nails \- Slowing of nail growth \- Scleronychia (induration and thickening of nails) \- Increased transverse curvature in some nails \- Absent lunulae, except on thumbs MISCELLANEOUS \- Nail changes may be intermittent in some patients ▲ 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
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5
|
c1833909
| 24,953 |
omim
|
https://www.omim.org/entry/164800
| 2019-09-22T16:37:08 |
{"mesh": ["C563503"], "omim": ["164800"], "synonyms": ["Alternative titles", "ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA", "ONYCHOLYSIS, HEREDITARY DISTAL"]}
|
Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).
## Epidemiology
The prevalence of porphyria cutanea tarda is estimated at 1/25,000 in western Europe.
## Clinical description
The disease can manifest in adulthood (porphyria cutanea tarda) or in childhood (hepatoerythropoietic porphyria). Patients present with cutaneous lesions (fragility, bullae, scars) on the surface of skin exposed to the sun (hands, face) and, unlike in cases of acute hepatic porphyrias (see this term), don't present with acute neuro-visceral attacks.
## Etiology
Chronic hepatic porphyria is caused by a deficiency in URO-D that leads to an accumulation of porphyrins in the liver. The enzyme deficiency is caused by heterogeneous mutations, in the case of porphyria cutanea tarda, of the URO-D gene coding for URO-D. Hepatoerythropoietic porphyria corresponds to homozygous and composite heterozygous cases of porphyria cutanea tarda. The acquired forms of the diseases may be triggered by risk factors (alcohol, hepatitis C, estrogen, iron overload).
## Diagnostic methods
Diagnosis is based on the measurement of concentrations of porphyrins in urine, stools and blood. The evidence of a deficiency of URO-D in red blood cells and the identification of a causal mutation of the URO-D gene allow a confirmed diagnosis.
## Differential diagnosis
Differential diagnoses include hereditary coproporphyria and variegate porphyria (see these terms).
## Genetic counseling
For both diseases, transmission is autosomal dominant and penetrance is weak. Genetic counseling should be offered to patients to identify individuals susceptible to developing or transmitting the disease.
## Management and treatment
Management includes protecting the skin from light. Phlebotomy and/or takin`g small doses of chloroquine results in complete remission, although a relapse is always possible. Treatment of concomitant hepatitis C is essential for remission to occur.
## Prognosis
Porphyria cutanea tarda is not life-threatening and the prognosis is favorable. The prognosis of hepatoerythropoietic porphyria is less favorable.
*[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
|
Chronic hepatic porphyria
|
None
| 24,954 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95161
| 2021-01-23T17:51:43 |
{"icd-10": ["E80.2"]}
|
Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
*[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
|
Familial median cleft of the upper and lower lips
|
c4014596
| 24,955 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942
| 2021-01-23T18:48:42 |
{"omim": ["615892"], "icd-10": ["Q36.1"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant myosin storage myopathy (MSMA) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q11.
An autosomal recessive form of myosin storage myopathy (MSMB; 255160) is caused by homozygous mutation in the MYH7 gene.
Description
Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).
Clinical Features
Cancilla et al. (1971) described a brother and sister with a congenital myopathy in which they noted probable lysis of type I myofibrils. A fine granular material that stained intensely with the myosin ATPase reaction had accumulated within the fibers. Dye et al. (2006) stated that the disease progressed over the years in the patients reported by Cancilla et al. (1971). The sister developed joint contractures of her limbs, severe scoliosis, and required ventilatory assistance. She died at age 25 years from bronchopneumonia after exploratory abdominal surgery for appendicitis. Her younger brother had scoliosis with fusion rod and tracheotomy at the age of 30 years.
Sahgal and Sahgal (1977) reported a patient with sporadic nonprogressive congenital myopathy with weakness and atrophy of the scapuloperoneal muscles. Muscle biopsy showed preferential atrophy of type I muscle fibers and subsarcolemmal bodies composed of an acid protein with ATPase activity.
Goebel et al. (1981) reported a 15-year-old girl with proximal muscle weakness since infancy. Milder distal muscle weakness was also present. Quadriceps muscle biopsy showed a predominance of type I muscle fibers with 'cytoplasmic bodies.' There was no family history.
Ceuterick et al. (1993) reported a 10-year-old boy with nonprogressive myopathy. Muscle biopsy showed hyaline bodies in type I fibers that stained with the myosin ATPase reaction at pH 4.2 and with polyclonal antiskeletal myosin. Immunoreactive deposits to antidesmin were observed at the border of some hyaline bodies. Ultrastructurally, the hyaline bodies were not surrounded by a limiting membrane and were only localized in subsarcolemmal areas. Periodic acid Schiff (PAS) staining for polysaccharides was negative.
Barohn et al. (1994) reported 2 patients with sporadic hyaline body myopathy since infancy: a 40-year-old male and a 3-year-old female. Both had numerous subsarcolemmal glassy, hyaline bodies in 20 to 30% of type I muscle fibers. The hyaline bodies stained negative for PAS and oxidative enzymes, contained amorphous granular material, but were not contained within a membrane.
Masuzugawa et al. (1997) reported a family in which 7 members over 4 generations developed slowly progressive scapuloperoneal muscle weakness and atrophy with an age at onset ranging from the first to fifth decade. Muscle biopsy of 2 patients showed subsarcolemmal hyaline bodies in approximately 20% of type I fibers. The hyaline bodies showed myofibrillar ATPase activity and stained intensely with antibodies to slow myosin heavy chain. Ultrastructurally, the hyaline bodies consisted of granules in linear array, filaments, or amorphous materials.
Bohlega et al. (2003) reported a Saudi Arabian kindred in which 11 members, including a mother, her father, and 8 of her 13 children, were affected with hyaline body myopathy inherited in an autosomal dominant pattern. Muscle biopsies showed subsarcolemmal hyaline bodies in type I fibers that were positive for ATPase and heavy chain slow myosin. Ultrastructurally, the hyaline bodies were granular and filamentous or amorphous, surrounded by disorganized sarcomeres. There were also many signs of myopathy, including fiber-type grouping, angulated fibers, fiber necrosis, fibrosis, and central nucleation. Bohlega et al. (2003) noted 2 distinct disease patterns in the family: a nonprogressive minimal generalized muscle wasting and weakness since childhood, and a relentlessly progressive weakness starting at age 2 years with proximal arm and hand weakness, scapular winging, and severe functional impairment resulting in loss of ambulation around age 20 years.
Tajsharghi et al. (2003) reported a patient with slowly progressive muscle weakness since childhood, when his gait was affected by hip weakness, but he was able to climb stairs and even run. He also had shoulder girdle weakness, bilateral winging of the scapulae, and pseudohypertrophy of the calves. By age 71 years, he was severely weak in the proximal muscles and moderately weak in the distal muscles. Lung vital capacity was 57% of normal, serum creatine kinase was elevated, and EMG findings were consistent with a myopathy. There were no signs of cardiomyopathy clinically or by imaging, although he did have atrial fibrillation. His mother had had similar symptoms, with hip and shoulder girdle weakness, as well as atrial fibrillation. One of 3 children (a daughter) of the proband was also affected. Tajsharghi et al. (2003) also reported an unrelated 33-year-old woman with a similar phenotype, including waddling gait, winging of the scapulae, pseudohypertrophy of the calves, and normal cardiac findings. None of her family members was affected. Muscle biopsy in the proband of the first family showed type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain were present in the majority of type 1 fibers, but not in type 2 fibers. The authors termed the disorder 'myosin storage myopathy.'
Inheritance
The transmission pattern of hyaline body myopathy in the kindred reported by Bohlega et al. (2003) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of a family and in an unrelated patient with myosin storage myopathy, Tajsharghi et al. (2003) identified a heterozygous mutation in the MYH7 gene (160760.0028).
In affected members of a Saudi Arabian family with autosomal dominant hyaline body myopathy reported by Bohlega et al. (2003), Bohlega et al. (2004) identified a mutation in the MYH7 gene (160760.0031).
In a Belgian patient with myosin storage myopathy, originally reported by Ceuterick et al. (1993), Laing et al. (2005) identified a heterozygous mutation in the MYH7 gene (160760.0028).
In 1 of the affected sibs originally reported by Cancilla et al. (1971), Dye et al. (2006) identified a heterozygous mutation in the MYH7 gene (L1793P; 160760.0037), confirming that the disease in that family was autosomal dominant myosin storage myopathy. Dye et al. (2006) noted that contact with the family had been lost and DNA studies were performed on archival postmortem sections from the affected sister who died at age 25 years. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed.
In a mother with myosin storage myopathy, who later developed hypertrophic cardiomyopathy (CMH1; 192600), and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; 613426), Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7. The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, she was diagnosed with CMH. Skeletal muscle biopsy at age 53 showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking.
Pathogenesis
Goebel and Warlo (2001) suggested that hyaline body myopathy may be related to a surplus of proteins present in a granular or filamentous form.
Armel and Leinwand (2009) analyzed the functional effects of 4 different MYH7 mutations in the rod or tail domain that were found to be responsible for myosin storage myopathy: R1845W (160760.0028), H1901L (160760.0031), E1886K (160760.0035), and L1793P (160760.0037). None of the mutations altered the secondary structure of the protein, but L1793P and H1901L showed decreased thermodynamic stability. All mutations decreased the extent of self-assembly of the light meromyosin rod (less than 50 to 60%) compared to the wildtype protein. R1845W and H1901L showed formation of more stable and larger filaments, whereas L1793P and E1886K showed more rapid filament degradation. Armel and Leinwand (2009) noted that the assembly of muscle filaments is a multistep process that involves both the proper folding of alpha-helices into coiled-coils, and the assembly of these coiled-coils, in proper register, into filaments, and concluded that defects in any one of these steps can result in improper filament formation leading to muscle disease.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- No hypertrophic cardiomyopathy RESPIRATORY Lung \- Reduced vital capacity due to muscle weakness MUSCLE, SOFT TISSUES \- Scapuloperoneal weakness \- Scapuloperoneal atrophy \- Generalized muscle weakness, proximal and distal \- Generalized muscle atrophy, proximal and distal \- 'Waddling' gait \- Pseudohypertrophy of the calves \- EMG shows myopathy \- Muscle biopsy shows type 1 fiber predominance \- Subsarcolemmal hyaline bodies in type 1 fibers only \- Type 1 fibers with inclusions containing MYH7 protein aggregates \- Centralized nuclei \- Positive staining for ATPase activity at pH of 4.3 LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Onset ranges from childhood to adulthood \- Slowly progressive \- Clinical variability \- Non-progressive and more severe progressive forms \- See 255160 for an autosomal recessive form \- Allelic disorder to familial hypertrophic cardiomyopathy (CMH, 192600 ) and Laing distal myopathy ( 160500 ) MOLECULAR BASIS \- Caused by mutation in the beta cardiac myosin heavy chain gene (MYH7, 160760.0028 ) ▲ 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
|
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
|
c1842160
| 24,956 |
omim
|
https://www.omim.org/entry/608358
| 2019-09-22T16:07:56 |
{"doid": ["0111269"], "mesh": ["C564253"], "omim": ["608358"], "orphanet": ["53698"], "synonyms": ["Alternative titles", "MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT", "MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS"]}
|
Bloodborne disease
SpecialtyHematology, Infectious disease
A blood-borne disease is a disease that can be spread through contamination by blood and other body fluids. Blood can contain pathogens of various types, chief among which are microorganisms, like bacteria and parasites, and non-living infectious agents such as viruses. Three bloodborne pathogens in particular, all viruses, are cited as of primary concern to health workers by the CDC-NIOSH: HIV, hepatitis B (HVB), & hepatitis C (HVC).[1]
Diseases that are not usually transmitted directly by blood contact, but rather by insect or other vector, are more usefully classified as vector-borne disease, even though the causative agent can be found in blood. Vector-borne diseases include West Nile virus, zika fever and malaria.
Many blood-borne diseases can also be contracted by other means, including high-risk sexual behavior or intravenous drug use. These diseases have also been identified in sports medicine.[2]
Since it is difficult to determine what pathogens any given sample of blood contains, and some blood-borne diseases are lethal, standard medical practice regards all blood (and any body fluid) as potentially infectious. Blood and Body Fluid precautions are a type of infection control practice that seeks to minimize this sort of disease transmission.
## Contents
* 1 Occupational exposure
* 2 Blood transfusions
* 3 Needle exchange programs
* 4 Prevention
* 5 References
* 6 External links
## Occupational exposure[edit]
Blood poses the greatest threat to health in a laboratory or clinical setting due to needlestick injuries (e.g., lack of proper needle disposal techniques and/or safety syringes). These risks are greatest among healthcare workers, including: nurses, surgeons, laboratory assistants, doctors, phlebotomists, and laboratory technicians.[3] These roles often require the use of syringes for blood draws or to administer medications.
The Occupational Safety and Health Administration (OSHA) prescribes 5 rules that are required for a healthcare facility to follow in order to reduce the risk of employee exposure to blood-borne pathogens. They are:
* Written exposure control plan
* Engineering controls (Sharps containers, detachable and retractable needles, syringe caps, etc.)
* Safe Work Practices and Safety Devices
* Hepatitis B vaccine available to employees
* Education and post-exposure follow up
These controls, while general, serve to greatly reduce the incidence of blood-borne disease transmission in occupational settings of healthcare workers.
There are 26 different viruses that have been shown to present in healthcare workers as a result of occupational exposure.[4] The most common blood-borne diseases are hepatitis B (HBV), hepatitis C (HCV), and human immunodeficiency virus (HIV).[5] Exposure is possible through blood of an infected patient splashing onto mucous membranes; however, the greatest exposure risk was shown to occur during percutaneous injections performed for vascular access. These include blood draws, as well as catheter placement, as both typically use hollow bore needles.[3] Preventive measures for occupational exposure include standard precautions (hand washing, sharp disposal containers), as well as additional education. Advancements in the design of safety engineered devices have played a significant role in decreasing rates of occupational exposure to blood-borne disease.[5] According to the Massachusetts Sharps Injury Surveillance System, needle devices without safety features accounted for 53% of the 2010 reported sharps injuries.[6] Safer sharps devices now have engineering controls, such as a protective shield over the needle, and sharps containers that have helped to decrease this statistic. These safer alternatives are highly effective in substantially reducing injuries. For instance, almost 83% of injuries from hollow bore needles can be prevented with the use of safer sharps devices.[7]
## Blood transfusions[edit]
Blood for blood transfusion is screened for many blood-borne diseases. Additionally, a technique that uses a combination of riboflavin and UV light to inhibit the replication of these pathogens by altering their nucleic acids can be used to treat blood components prior to their transfusion, and can reduce the risk of disease transmission.[8][9][10]
A technology using the synthetic psoralen, amotosalen HCl, and UVA light (320–400 nm) has been implemented in European blood centers for the treatment of platelet and plasma components to prevent transmission of bloodborne diseases caused by bacteria, viruses and protozoa.[11][12]
## Needle exchange programs[edit]
Needle exchange programs (NEPs) are an attempt to reduce the spread of blood-borne diseases between intravenous drug users. They often also provide addiction counseling services, infectious disease testing, and in some cases mental health care and other case management. NEPs acquired their name as they were initially places where intravenous (IV) illicit substance users were provided with clean, unused needles in exchange for their used needles. This allows for proper disposal of the needles.[13] Empirical studies confirm the benefits of NEPs.[14] NEPs can affect behaviors that result in the transmission of HIV. These behaviors include decreased sharing of used syringes, which reduces contaminated syringes from circulation and replaces them with sterile ones, among other risk reductions.
## Prevention[edit]
Follow standard precautions to help prevent the spread of blood-borne pathogens and other diseases whenever there is a risk of exposure to blood or other bodily fluids. Standard precautions include maintaining personal hygiene and using personal protective equipment (PPE), engineering controls, and work practice controls among others.[15] Always avoid contact with blood and other bodily fluids. Wear disposable gloves when providing care, particularly if you may come into contact with blood or bodily fluids. Dispose properly of gloves and change gloves when providing care to a new patient. Use needles with safety devices to help prevent needlestick injury and exposure to blood-borne pathogens.
A hierarchy of controls can help to prevent environmental and occupational exposures and subsequent diseases. These include:
* Elimination: Physically remove hazards, including needles that lack a safety device. Additionally, eliminate the use of needle devices whenever safe and effective alternatives are available.
* Substitution: Replace needles without safety devices with ones that have a safety feature built in. This has been shown to reduce bloodborne diseases transmitted via needlestick injuries.
* Engineering controls: Isolate people from the hazard by providing sharps containers for workers to immediately place needles in after use.
* Administrative controls: Change the way people work by creating a culture of safety such as avoiding recapping or bending needles that may be contaminated and promptly disposing of used needle devices and other sharps.
Personal protective equipment: Protect workers with PPE such as gloves and masks to avoid transmission of blood and other bodily fluids.
## References[edit]
1. ^ "Bloodborne Infectious Diseases: HIV/AIDS, Hepatitis B, Hepatitis C". Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health. Retrieved 30 March 2020.
2. ^ Jason J. Pirozzolo; Donald C. LeMay (July 2007). "Blood-Borne Infections". Clinics.com. p. Volume 26, Issue 3, 425–431. Retrieved February 23, 2014.
3. ^ a b S. Deuffic-Burbana, E. Delarocque-Astagneauc, D. Abitebould, E. Bouvetd, Y. Yazdanpanah Blood-borne viruses in healthcare workers: Prevention and management. Journal of Clinical Virology[permanent dead link] 52(2011) 4–10
4. ^ Massachusetts Department of Public Health Occupational Health Surveillance Program. (2010) Sharps Injuries among Hospital Workers in Massachusetts, 2010: Findings from the Massachusetts Sharps Injury Surveillance System[permanent dead link].
5. ^ a b Annette Prüss-Üstün, Elisabetta Rapiti, and Yvan Hutin Estimation of the Global Burden of Disease Attributable to Contaminated Sharps Injuries Among Health-Care Workers. American Journal of Industrial Medicine[permanent dead link] 48:482–490 (2005)
6. ^ Patrick, Deval (March 2012). Governor (PDF). Boston, MA: Massachusetts Department of Public Health. pp. 1–24.
7. ^ Centers for Disease Control and Prevention. "Stop Sticks Campaign". The National Institute for Occupational Safety and Health. Retrieved October 18, 2017. This article incorporates text from this source, which is in the public domain.
8. ^ Goodrich RP, et al., "Arkk Laboratory Comparison of Pathogen Reduction Technology Treatment and Culture of Platelet Products for Addressing Bacterial Contamination Concerns." Transfusion 2009;49 : 1205–1216.
9. ^ Ruane PH, et al., "Photochemical Inactivation of Selected Viruses and Bacteria in Platelet Concentrates Using Riboflavin and Light." Transfusion 2004; 44: 877–885.
10. ^ Goodrich RP, et al. "The Mirasol PRT System for Pathogen Reduction of Platelets and Plasma: An Overview of Current Status and Future Trends." Transfusion and Apheresis Science 2006; 35 (1): 5–17.
11. ^ Osselaer et al. "Universal adoption of pathogen inactivation of platelet components: impact on platelet and red blood cell component use". Transfusion 2009; 49:1412–1422.
12. ^ Cazenave et al. "An active hemovigilance program characterizing the safety profile of 7,483 transfusions with plasma components prepared with amotosalen and UVA photochemical treatment". Transfusion 2010;50:1210–1219.
13. ^ "Needle Exchange: A Primer". PBS. Retrieved October 18, 2017.
14. ^ Lurie, Peter (1993). The Public Health Impact of Needle Exchange Programs in the United States and Abroad (PDF). San Francisco, CA: UC Berkeley School of Public Health.
15. ^ Fact Sheet. "Preventing the Spread of Bloodborne Pathogens" (PDF). Bloodborne Pathogens Training. The American National Red Cross. Retrieved 2017-10-25.
## External links[edit]
Classification
D
* ICD-10: Z77.21
* ICD-9-CM: V01.79
Look up bloodborne in Wiktionary, the free dictionary.
* Selected EPA-registered Disinfectants—U.S. Environmental Protection Agency
* OSHA Bloodborne Pathogen Standard (BBPS)
* Bloodborne Pathogens and Needlestick Prevention, from the Occupational Safety and Health Administration (OSHA)
* OSHA Bloodborne Pathogens Workplace Safety Standards and Regulations
* Antimicrobials Information—National Pesticide Information Center
* Professor Andrew Speilman, Entomologist, Harvard School of Hygiene and Public Health Freeview Malaria video by the Vega Science Trust.
* Rob Hutchinson, Entomolgoist, Mosquitoes London School of Hygiene and Tropical Diseases. Freeview video by the Vega Science Trust.
* "CDC—Healthcare-associated infections—HAI". cdc.gov. Retrieved 2014-03-01.
* NIOSH Bloodborne Infectious Diseases Topic Page
* v
* t
* e
Concepts in infectious disease
Transmission
Basic concepts
* Asymptomatic carrier
* Host
* Incubation period
* Index case
* Infectious period
* Latent period
* Natural reservoir
* Subclinical infection
* Super-spreader
Modes
* Human-to-human transmission
* Horizontal
* Vertical
* Cross-species transmission
* Spillover infection
* Vector
* Zoonosis
* Reverse zoonosis
Routes
* Airborne disease
* Blood-borne disease
* Foodborne illness
* Waterborne disease
* Hospital-acquired infection
* Fomite
* Fecal-oral route
* Sexual
Modelling
* Attack rate
* Basic reproduction number
* Compartmental models in epidemiology
* Critical community size
* Herd immunity
* Infection rate
* Serial interval
* Transmission risks and rates
Medication
* Antimicrobial
* Antibiotic
* Antiviral drug
* Antimicrobial resistance
* Immunotherapy
* Phage therapy
* Vaccination
Emerging infections
* Disease X
* Emergent virus
Other
* Discovery of disease-causing pathogens
* Eradication of infectious diseases
* Pandemic
*[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
|
Blood-borne disease
|
None
| 24,957 |
wikipedia
|
https://en.wikipedia.org/wiki/Blood-borne_disease
| 2021-01-18T18:53:16 |
{"wikidata": ["Q4927522"]}
|
Formation of new bone on the surface of a bone
Exostosis
Other namesBone spur
X-ray of the left femur of a 5-year-old boy with an exostosis at the lateral side, just above the knee.
SpecialtyRheumatology
An exostosis, also known as bone spur, is the formation of new bone on the surface of a bone.[1] Exostoses can cause chronic pain ranging from mild to debilitatingly severe, depending on the shape, size, and location of the lesion. It is most commonly found in places like the ribs, where small bone growths form, but sometimes larger growths can grow on places like the ankles, knees, shoulders, elbows and hips. Very rarely are they on the skull.
Exostoses are sometimes shaped like spurs, such as calcaneal spurs.
Osteomyelitis, a bone infection, may leave the adjacent bone with exostosis formation. Charcot foot, the neuropathic breakdown of the feet seen primarily in diabetics, can also leave bone spurs that may then become symptomatic.
They normally form on the bones of joints, and can grow upwards. For example, if an extra bone formed on the ankle, it might grow up to the shin.
When used in the phrases "cartilaginous exostosis" or "osteocartilaginous exostosis", the term is considered synonymous with osteochondroma. Some sources consider the two terms to mean the same thing even without qualifiers, but this interpretation is not universal.
## Contents
* 1 Osteophytes
* 2 Fossil record
* 3 Hereditary multiple exostoses
* 4 Types
* 5 See also
* 6 References
* 7 External links
## Osteophytes[edit]
Osteophytes are bone spurs that develop on the margins of joints secondary to external stimuli such as osteoarthritis.[2] However, these are not always distinguished from exostoses in any definite way.[3]
## Fossil record[edit]
Main article: Paleopathology
Evidence for exostosis found in the fossil record is studied by paleopathologists, specialists in ancient disease and injury. Exostosis has been reported in dinosaur fossils from several species, including Acrocanthosaurus atokensis, Albertosaurus sarcophagus, Allosaurus fragilis, Gorgosaurus libratus, and Poekilopleuron bucklandii.[4]
## Hereditary multiple exostoses[edit]
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas (HMO), is a condition that is estimated to affect 1 in 50,000 individuals. Multiple benign or noncancerous bone tumors develop in the affected individuals. The number and location vary among affected patients. Most people seem unaffected at birth; however, by the age of 12 years, they develop multiple exostoses. Affected individuals commonly complain of palpable and recognizable lumps (exostoses) at about the knees and in the forearms. The condition characteristically occurs bilaterally. It may lead to mild degrees of growth retardation and limb asymmetry. Genu valgum (commonly known as "knock-knees"), ankle valgus, and bowing and shortening of one or both of the forearm bones are common manifestations.[5]
## Types[edit]
* Buccal exostosis
* Footballer's ankle (exotosis of the ankle bone)
* Hereditary multiple exostoses (HME)[5][6]
* Subungual exostosis
* Surfer's ear (exostosis of the ear canal)
* Torus mandibularis
* Torus palatinus
## See also[edit]
* Ganglion cyst
* List of radiographic findings associated with cutaneous conditions
* Osteoma
* Osteosclerosis
* Pachyosteosclerosis
* Pachyostosis
## References[edit]
1. ^ "exostosis" at Dorland's Medical Dictionary
2. ^ Page 171 in: Michael W. Ross, Sue J. Dyson (2010). Diagnosis and Management of Lameness in the Horse - E-Book. Elsevier Health Sciences. ISBN 9781437711769.
3. ^ "The Medico-chirurgical Review and Journal of Medical Science". Burgess and Hill. 1 January 1844.
4. ^ Molnar, R. E., 2001, Theropod paleopathology: a literature survey: In: Mesozoic Vertebrate Life, edited by Tanke, D. H., and Carpenter, K., Indiana University Press, p. 337-363.
5. ^ a b EL-Sobky, TA; Samir, S; Atiyya, AN; Mahmoud, S; Aly, AS; Soliman, R (21 March 2018). "Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review". Sicot-J. 4: 10. doi:10.1051/sicotj/2018002. PMC 5863686. PMID 29565244.
6. ^ Wuyts, W; Schmale, GA; Chansky, HA; et al. (21 November 2013). "Hereditary Multiple Osteochondromas". GeneReviews. Retrieved 24 March 2018.
## External links[edit]
Classification
D
* ICD-9-CM: 726.91
* MeSH: D005096
* DiseasesDB: 18621
External resources
* Patient UK: Exostosis
* The Ear and Balance Center, The Sonos Group
* MHE Research Foundation (Multiple Hereditary Exostoses)
* v
* t
* e
Diseases of joints
General
* Arthritis
* Monoarthritis
* Oligoarthritis
* Polyarthritis
Symptoms
* Joint pain
* Joint stiffness
Inflammatory
Infectious
* Septic arthritis
* Tuberculosis arthritis
Crystal
* Chondrocalcinosis
* CPPD (Psudogout)
* Gout
Seronegative
* Reactive arthritis
* Psoriatic arthritis
* Ankylosing spondylitis
Other
* Juvenile idiopathic arthritis
* Rheumatoid arthritis
* Felty's syndrome
* Palindromic rheumatism
* Adult-onset Still's disease
Noninflammatory
* Hemarthrosis
* Osteoarthritis
* Heberden's node
* Bouchard's nodes
* Osteophyte
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner 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
|
Exostosis
|
c1442903
| 24,958 |
wikipedia
|
https://en.wikipedia.org/wiki/Exostosis
| 2021-01-18T18:35:34 |
{"mesh": ["D005096"], "umls": ["C1442903"], "wikidata": ["Q1384176"]}
|
Ring chromosome 14 is a rare chromosome abnormality that causes ring chromosome 14 syndrome (written as r(14) syndrome), which affects many parts of the body. Signs and symptoms of r(14) syndrome vary from person to person but often include distinctive facial features, developmental delay and intellectual disability, autism spectrum disorder, intractable (hard to control) epilepsy, and occasional eye and vision abnormalities. Intellectual disability ranges from moderate to severe, likely depending on the severity of seizures and age they begin (earlier onset is associated with more severe disability). Severity and frequency of seizures may improve over time. Other signs and symptoms may include a small head size (microcephaly), low muscle tone (hypotonia), scoliosis, and increased susceptibility to infections.
Ring chromosomes almost always occur sporadically (by chance), occurring for the first time in people with no family history of chromosome disorders. In these cases, it occurs as a random event when egg or sperm cells are formed, or very soon after the egg and sperm join together. Researchers believe that several important genes near the end of the long arm of chromosome 14 are lost (deleted) when the ring forms, likely leading to some of the features of r(14) syndrome.
Management depends on the symptoms in each person and often requires a team of specialists to address each medical issue. Because symptoms and severity can vary, the long-term outlook (prognosis) is difficult to predict and depends mainly on the health issues present and complications that may arise.
*[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
|
Ring chromosome 14
|
c2930916
| 24,959 |
gard
|
https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14
| 2021-01-18T17:57:53 |
{"mesh": ["C535487"], "omim": ["616606"], "umls": ["C2930916"], "orphanet": ["1440"], "synonyms": ["Chromosome 14 ring", "Ring 14", "Ring chromosome 14 syndrome"]}
|
A number sign (#) is used with this entry because of evidence that retinal arterial tortuosity (RATOR) is caused by heterozygous mutation in the COL4A1 gene (120130) on chromosome 13q34. One such family has been reported.
Description
Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).
Clinical Features
Beyer (1958) described tortuous retinal arteries with foveal hemorrhage in a 43-year-old man and his 17-year-old son. A 12-year-old son showed early changes. Polycythemia was present in the 17-year-old. Werner and Gafner (1961) described tortuous arteries in a 47-year-old man and his son and 2 daughters. Cagianut and Werner (1968) observed 4 persons in 1 family with retinal arteriolar tortuosity and recurrent hemorrhages. Goldberg et al. (1972) described a family with 12 cases of retinal vascular tortuosity and/or retinal hemorrhage in 5 sibships, including 3 instances of father-to-son transmission. One of the 12 had retinal hemorrhage without tortuosity.
Wells and Kalina (1985) reported 3 families with autosomal dominant retinal arteriolar tortuosity and spontaneous retinal hemorrhages. All hemorrhages resolved with recovery of normal vision. Arteriolar tortuosity was often not present in children with hemorrhages but later became apparent during adolescence. Several members of 2 families showed either tortuosity alone or hemorrhages alone, and the authors noted that these findings may be independent manifestations. Wells and Kalina (1985) concluded that the vascular anomaly is acquired and progressive rather than static and congenital, and that the disorder may be overlooked in children.
Clearkin et al. (1986) reported a family with retinal arteriolar tortuosity affecting 6 members over 3 generations. Three members developed tortuosity in late adolescence. Four members also had retinal hemorrhage, and 2 had tortuosity only. The proband suffered permanent visual impairment in one eye due to optic disc infarction.
Sears et al. (1998) reported a family with typical features of the disorder.
Zenteno et al. (2014) studied a Spanish father and 2 daughters with retinal arterial tortuosity. The 53-year-old father presented with photophobia, and examination revealed marked tortuosity of second- and third-order arterioles bilaterally as well as discrete hypopigmentation of the retinal pigment epithelium. The venous system appeared normal, and there was no evidence of previous retinal hemorrhage. The proband's 21-year-old daughter had an episode of exercise-related mild retinal hemorrhage at age 15 years, at which time retinal examination revealed increased tortuosity of second- and third-order arterioles, several round areas of perifoveal intraretinal hemorrhage on the right, and foveal hemorrhage on the left. The hemorrhage resolved spontaneously, but she experienced several recurrences over the next 5 years. The proband's 18-year-old daughter had an episode of exercise-related retinal hemorrhage at 13 years of age, at which time she was found to have increased tortuosity of retinal arterioles and bilateral intraretinal hemorrhage. The hemorrhage resolved spontaneously and she had no recurrences. None of the patients had any anterior segment anomalies, neurologic symptoms, or history of muscle cramps. Hemograms and urinalyses were normal in all 3 patients, as were glomerular filtration rates and creatine phosphokinase levels. Renal ultrasound showed no abnormalities of the kidneys; doppler echography did not detect any aortic or renal arterial abnormalities; and magnetic resonance angiography showed no evidence of leukoencephalopathy or structural anomalies, except for a small (3 mm) internal carotid artery aneurysm in the father.
Inheritance
Goldberg et al. (1972) suggested autosomal dominant inheritance of retinal arterial tortuosity based on reports of male-to-male transmission and occurrence in parents and their children in the absence of consanguinity.
Molecular Genetics
In a Spanish father and 2 daughters with tortuosity of the retinal arteries, Zenteno et al. (2014) performed whole-exome sequencing and identified heterozygosity for a missense mutation in the COL4A1 gene (G510R; 120130.0013). The mutation, which segregated with disease in the family, was not found in 200 ethnically matched control alleles or in 8,600 exomes in the NHLBI Exome Variant Server database. The G510R mutation was previously detected in heterozygosity in affected members of a French family who exhibited features of angiopathy associated with nephropathy, aneurysms, and muscle cramps (HANAC syndrome; 611773) by Plaisier et al. (2010).. Zenteno et al. (2014) suggested that environmental factors and/or other genetic modifiers may influence the phenotypic expression and extent of organ involvement in COL4A1-related disease.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Episodic loss of vision \- Retinal hemorrhages \- Retinal arteriolar tortuosity MISCELLANEOUS \- Retinal arteriolar tortuosity develops in adolescence and is progressive \- Retinal hemorrhages usually resolve without sequelae ▲ 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
|
RETINAL ARTERIES, TORTUOSITY OF
|
c1867327
| 24,960 |
omim
|
https://www.omim.org/entry/180000
| 2019-09-22T16:35:20 |
{"omim": ["180000"], "orphanet": ["75326"], "synonyms": ["Tortuosity of retinal arteries", "Retinal hemorrhage with vascular tortuosity", "Alternative titles", "RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY", "Retinal arteriolar tortuosity"]}
|
## Clinical Features
Tsukahara et al. (1995) reported the case of a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, clinodactyly of the fifth fingers, partial webbing, scoliosis, and mental retardation. Tsukahara et al. (1995) considered the disorder in their patient to be different from that in the patients described by Giuffre et al. (1994).
Giuffre et al. (1994) described 7 affected individuals from 2 unrelated families with microcephaly and radioulnar synostosis; 6 had short stature and 1 was at the 50th centile for height. In the first family, clinodactyly of the fifth finger and partial webbing was also present; in the second family, 1 patient had submucous cleft palate. There was slight psychomotor impairment in the male patients of each family that was not reported in the female subjects. Inheritance was consistent with an autosomal dominant pattern.
Udler et al. (1998) described an 8-year-old Israeli Arab girl who appeared to have the same condition as the patient of Tsukahara et al. (1995). Her parents were first cousins, raising the possibility of autosomal recessive inheritance. Limited supination of the elbow joints was noted at delivery and x-ray studies showed radioulnar synostosis. This was repaired at 2.5 years, but recurred between 4 and 6 years. At 6 years, right-sided thoracic scoliosis was diagnosed; radiologic examination showed no signs of skeletal dysplasia. Development, especially of speech, was delayed, although no delay of motor development was observed. At the age of 8 years, she was unable to read or write. Occipitofrontal head circumference was 31.5 cm at birth, and microcephaly as well as short stature had been present throughout.
Selicorni et al. (2005) reported a 3-year-old boy with microcephaly, radioulnar synostosis, and mental retardation. His height was at the 50th centile and there was no scoliosis. Selicorni et al. (2005) commented that the facial dysmorphism differed among their patient and those reported by Giuffre et al. (1994), Tsukahara et al. (1995), and Udler et al. (1998). They suggested the existence of a common phenotype characterized by the association of microcephaly and radioulnar synostosis, accompanied variably by growth and/or psychomotor delay.
Gaspar et al. (2008) reported a mother and son with apparent X-linked semidominant inheritance of Giuffre-Tsukahara syndrome. The son was referred at age 7 years because of developmental delay, learning disability, and attention deficit and hyperactivity disorder. Dysmorphic features were apparent, including microcephaly, dysmorphic ears with unusually shaped antihelix, hypotelorism, a prominent nose, and a thin upper lip. He had dorsal kyphosis, right hydrocele, and inguinal hernia. The forearms had limited supination, and there was partial syndactyly of fingers and clinodactyly and brachymesophalangy of the fifth fingers. Radiographs showed radioulnar synostosis with luxation of the radial head on the right side and fibrous synostosis of radius and ulna on the left side. The 36-year-old mother of the patient reportedly had bilateral radioulnar deformity with limited supination of both forearms. She showed mild mental retardation and learning disability with an IQ below the normal range. X-inactivation studies in the mother showed a strongly skewed and nonrandom pattern. Further studies showed that the affected son inherited the allele that was mostly inactivated in his mother, whereas a healthy brother inherited the mother's activated allele. These findings supported X-linked semidominant inheritance, with the mother having a milder phenotype. Gaspar et al. (2008) postulated that the gene defect mapped to chromosome Xp22.13-q21.33 within the inactivated maternal allele. The authors concluded that Giuffre-Tsukahara syndrome is a single genetic entity characterized by the association of microcephaly and radioulnar synostosis and mental retardation, but without characteristic facies.
Dalal et al. (2010) reported a girl, born of consanguineous Indian parents, with apparent Giuffre-Tsukahara syndrome. She presented at age 6 years with global developmental delay, poor speech, microcephaly, short stature, and limited elbow movement. She had pectus excavatum, limited movement of forearms, brachydactyly, clinodactyly, scoliosis, and joint laxity of the fingers and knees. Radiologic evaluation showed bilateral proximal radioulnar synostosis. She also had dysmorphic facial features, including prominent eyes, hypotelorism, flat malar region, simple ears, thick lips, and bilateral myopia. Molecular studies showed no evidence of skewed X inactivation. There was no family history of a similar disorder. Dalal et al. (2010) postulated X-linked dominant inheritance, but noted that autosomal recessive inheritance could not be excluded.
Nomenclature
The syndrome described here was designated 'Tsukahara syndrome' by Udler et al. (1998). This syndrome is distinct from the 'Tsukahara syndrome' involving type A1 brachydactyly, short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation (613627).
*[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
|
RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION
|
c1863881
| 24,961 |
omim
|
https://www.omim.org/entry/603438
| 2019-09-22T16:13:03 |
{"omim": ["603438"], "orphanet": ["3268"], "synonyms": ["Alternative titles", "TSUKAHARA SYNDROME", "GIUFFRE-TSUKAHARA SYNDROME"]}
|
Pseudo gray platelet syndrome
SpecialtyHematology
Pseudo gray platelet syndrome was described by Cockbill, Burmester, and Heptinstall (1988)[1] who reported a 25-year-old woman with a history of mild bruising and bleeding. Another case was described in Japan in 2002.[2]
## Contents
* 1 Presentation
* 2 Diagnosis
* 2.1 Comparison to gray platelet syndrome
* 3 Treatment
* 4 References
## Presentation[edit]
Bleeding time, activated partial thromboplastin time, prothrombin time, and euglobulin lysis time were within normal limits. There were no platelet antibodies detected. The patient's mother and two sisters had histories of easy bruising and heavy menstrual periods. A brother had no reported bleeding tendencies. Platelets from the mother, sisters, and a daughter were normal in number and appearance under the light microscope. Platelets in blood collected into EDTA tubes appeared gray and agranular compared with platelets from blood in citrate or heparin. The key finding is under electron microscopy, EDTA-exposed platelets showed extensive activation, with loss of storage granule contents and pseudopod formation. Platelet aggregation studies were normal.[citation needed]
The abnormal platelet reaction following EDTA exposure is thought to be caused by a plasma factor, although not an immunoglobulin. The mechanism by which platelet activation occurs remains unknown. Few cases have been reported in the literature.[citation needed]
## Diagnosis[edit]
### Comparison to gray platelet syndrome[edit]
Pseudo-gray platelet syndrome differs from gray platelet syndrome (GPS), one of the giant platelet syndromes.[3] GPS is characterized by "thrombocytopenia, abnormally large agranular platelets in peripheral blood smears, and almost total absence of platelet alpha-granules and their constituents."[4] The defect in GPS is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies.[citation needed]
## Treatment[edit]
This section is empty. You can help by adding to it. (October 2017)
## References[edit]
1. ^ Cockbill SR, Burmester HB, Heptinstall S (October 1988). "Pseudo grey platelet syndrome--grey platelets due to degranulation in blood collected into EDTA". Eur. J. Haematol. 41 (4): 326–33. doi:10.1111/j.1600-0609.1988.tb00205.x. PMID 3143601.
2. ^ Toyota S, Nakamura N, Dan K (November 2002). "Pseudo gray platelet syndrome in a patient with acute myocardial infarction". Int. J. Hematol. 76 (4): 376–8. doi:10.1007/bf02982700. PMID 12463604.
3. ^ Jantunen E (October 1994). "Inherited giant platelet disorders". Eur. J. Haematol. 53 (4): 191–6. doi:10.1111/j.1600-0609.1994.tb00187.x. PMID 7957801.
4. ^ Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R (July 1994). "Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature". Am. J. Hematol. 46 (3): 218–24. doi:10.1002/ajh.2830460311. PMID 8192152.
*[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
|
Pseudo gray platelet syndrome
|
None
| 24,962 |
wikipedia
|
https://en.wikipedia.org/wiki/Pseudo_gray_platelet_syndrome
| 2021-01-18T19:10:41 |
{"wikidata": ["Q7254462"]}
|
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.
## Epidemiology
Pontocerebellar hypoplasia type 3 (PCH3) is reported in only 3 families.
## Clinical description
Neonatally, PCH3 is characterized by hypotonia and impaired swallowing. From infancy onwards, the main features of PCH3 include progressive microcephaly with brachycephaly, optic atrophy, seizures during the first year of life, severe developmental delay, truncal hypotonia, with increased limb deep tendon reflexes and signs of spasticity of the limbs. Other characteristics such as facial dysmorphism (low set ears and prominent eyes), short stature and low weight are also reported. None of the clinical findings are specific. Characteristic movement disorders, as seen in PCH type 2, appear to be absent.
## Etiology
Mutations in the PCLO gene (7q21.11) has been identified in a family from the Sultanate of Oman. It is however unclear if PCLO mutations are causative in the other reported PCH3 families reported in literature. PCH3 is inherited in an autosomal recessive manner.
## Diagnostic methods
MRI demonstrates neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected, a small brainstem, prominent sulci and lateral ventricles and decreased cerebral white matter volume. Genetic testing is recommended to confirm the diagnosis.
## Differential diagnosis
Due to phenotypic overlap, other subtypes of PCH should be considered, as well as mutations in the CASK gene. Congenital disorder of glycosylation type 1A (CDG1A) caused by mutations in the PMM2 gene can resemble PCH.
## Antenatal diagnosis
Prenatal detection of PCH by ultrasound is unreliable, since cerebellar abnormalities are often not detected at time of the routine screening for structural abnormalities at 20 weeks of gestation. In families in which the causal mutation is detected, prenatal testing or pre-implantation genetic diagnosis (PGD) should be offered.
## Genetic counseling
PCH3 is inherited in an autosomal recessive manner. Genetic counseling is recommended for families of individuals with PCH3. For parents of an affected individual, there is a 25% recurrence risk of having another affected child.
## Management and treatment
Treatment is symptomatic in PCH.
## Prognosis
There is no information on life expectancy, but reported PCH3 patients do not appear to regress.
*[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
|
Pontocerebellar hypoplasia type 3
|
c1842687
| 24,963 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97249
| 2021-01-23T18:21:44 |
{"gard": ["10708"], "mesh": ["C548072"], "omim": ["608027"], "umls": ["C1842687"], "icd-10": ["Q04.3"], "synonyms": ["Cerebellar atrophy with progressive microcephaly", "PCH3"]}
|
A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
*[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
|
KRT1-related diffuse nonepidermolytic keratoderma
|
c1833030
| 24,964 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=530838
| 2021-01-23T18:23:12 |
{"mesh": ["C563422"], "omim": ["600962"], "synonyms": ["KRT1-related diffuse NEPPK"]}
|
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone 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
|
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
|
None
| 24,965 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=102379
| 2021-01-23T18:36:44 |
{"icd-10": ["C92.8"], "synonyms": ["AML and myelodysplastic syndromes related to alkylating agent"]}
|
Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance (ataxia). Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). The signs and symptoms of SCA6 typically begin in a person's forties or fifties. Most people with this disorder require wheelchair assistance by the time they are in their sixties. Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.
*[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
|
Spinocerebellar ataxia type 6
|
c0752124
| 24,966 |
gard
|
https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6
| 2021-01-18T17:57:35 |
{"mesh": ["D020754"], "omim": ["183086"], "umls": ["C0752124"], "orphanet": ["98758"], "synonyms": ["SCA6", "Spinocerebellar ataxia 6"]}
|
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
## Epidemiology
The prevalence is not known but approximately 1000 patients have been registered to date worldwide.
## Clinical description
PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth. At least 3 phenotypes of hypertrophic nail dystrophy of feet and hands can be observed: nail grows to full length but a distal prominent hyperkeratosis causes an upward slant with an accentuated curvature of the nail; nail plate terminates prematurely leaving a distal region of hyperkeratosis and an exposed finger tip; or nail plate is thin with little or no hyperkeratosis. When children start walking, typically in the first years of life, a focal or diffuse palmoplantar keratoderma develops, with underlying blistering causing severe pain. In some cases, the onset of keratoderma is not seen until later childhood. By about 12 years of age the majority of patients have painful plantar keratoderma. Oral leukokeratosis occurs early, may possibly cause feeding difficulties and should be distinguished from oral candidiasis in infants. A follicular keratosis on the trunk and extremities may be seen at friction points such as waist, elbows and knees. Excessive sweating of palms and soles due to palmoplantar hyperhydrosis, widespread steatocystomas appearing during or after puberty, axillary and inguinal cysts, hoarseness in young children are other findings observed in some PC patients.
## Etiology
Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant negative mutations in at least 4 genes [KRT6A, KRT6B (12q13.13), KRT16 , KRT17 (17q21.2)] encoding keratins preferentially expressed in basal and suprabasal layers of palmoplantar skin, epidermal appendages and oral mucosa.
## Diagnostic methods
Diagnosis is based on clinical examination and is confirmed by molecular genetic testing.
## Differential diagnosis
Differential diagnosis includes variants of PC (steatocystoma multiplex, which develops at puberty with little or no nail dystrophy, and focal non-epidermolytic palmoplantar keratoderma; see these terms) and disorders manifesting with dystrophic nails such as epidermolysis bullosa, Clouston syndrome (distinguished by the presence of alopecia), and acquired disorders such as psoriasis and lichen planus (see these terms).
## Antenatal diagnosis
Antenatal molecular diagnosis is feasible provided the causative mutation is known.
## Genetic counseling
Recent data suggesting the possibility that the disease may rarely be inherited in a semi-dominant fashion emphasizes the importance of accurate molecular diagnosis for proper genetic counseling.
## Management and treatment
There is no curative treatment for PC yet. Treatment of manifestations will focus primarily on grooming of nails and management of pain due to palmoplantar keratoderma: it includes the use of emollients to reduce hyperkeratosis and strategies to limit frictions and trauma of the feet. Novel treatment modalities under investigation include small interfering RNA (siRNA) strategies, the use of systemic and topical rapamycin, and injection of botulinum toxin. Clinical studies based on library screening of existing drugs are ongoing.
## Prognosis
Complications may include secondary infection that is usually well controlled by antibiotics 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
|
Pachyonychia congenita
|
c0265334
| 24,967 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2309
| 2021-01-23T18:10:48 |
{"gard": ["10753"], "mesh": ["D053549"], "omim": ["167200", "167210", "260130", "615726", "615728"], "umls": ["C0265334"], "icd-10": ["Q84.5"], "synonyms": ["PC"]}
|
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
*[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
|
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
|
c3280452
| 24,968 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284282
| 2021-01-23T17:28:24 |
{"omim": ["614322"], "icd-10": ["G11.1"], "synonyms": ["Autosomal recessive spinocerebellar ataxia type 12", "SCAR12"]}
|
See 173500.
*[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
|
PLATELET GROUPS--Pl(E) SYSTEM
|
c1868202
| 24,969 |
omim
|
https://www.omim.org/entry/173540
| 2019-09-22T16:36:10 |
{"omim": ["173540"]}
|
Desmin-related myofibrillar myopathy
SpecialtyRheumatology
Desmin-related myofibrillar myopathy, also called Helmer’s myopathy, is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell.[1][2]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 References
* 8 External links
## Presentation[edit]
Common symptoms of the disease are weakness and atrophy in the distal muscles of the lower limbs which progresses to the hands and arms, then to the trunk, neck and face. Respiratory impairment often follows.
## Genetics[edit]
There are three major types of inheritance for this disease: Autosomal dominant, autosomal recessive and de novo.
* The most severe form is autosomal recessive and it also has the earliest onset.[3] It usually involves all three muscle tissues and leads to cardiac and respiratory failure as well as intestinal obstruction.[3]
* Autosomal Dominant inheritance shows a later onset and slower progression. It usually involves only one or two of the muscle tissues.[3]
* De novo diseases occur when a new mutation arises in the person that was not inherited through either parent. This form has a wide range of symptoms and varies depending on the mutation made.[3]
## Pathophysiology[edit]
The sarcomeres become misaligned and result in the disorganization of muscle fibers.[1] This mutation also results in muscle cell death by apoptosis and necrosis.[1] The muscle cell may also be disorganized because the aggregates may interrupt other filament structures and/or normal cellular function.[3]
Desminopathies are very rare diseases and As of 2004[update] only 60 patients have been diagnosed, however this number probably does not accurately represent the population due to frequent mis or under diagnosis.[3]
## Diagnosis[edit]
Desminopathies are diagnosed by genetic analysis. Because mutations in several further genes might be pathogenic for skeletal and cardiac myopathies, gene panels or whole exome sequence analysis are mostly used. Sanger sequencing is consequently used to verify NGS-data.
## Treatment[edit]
There is currently no cure for the disease but treatments to help the symptoms are available.[3]
## Prognosis[edit]
Prognosis strongly depends on which subtype of disease it is. Some are deadly in infancy but most are late onset and mostly manageable.[4][5]
## References[edit]
1. ^ a b c Bär H, Strelkov SV, Sjöberg G, Aebi U, Herrmann H (November 2004). "The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?". J. Struct. Biol. 148 (2): 137–52. doi:10.1016/j.jsb.2004.04.003. PMID 15477095.
2. ^ Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Šarić T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H (May 2012). "Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants". J Biol Chem. 287 (19): 16047–57. doi:10.1074/jbc.M111.313841. PMC 3346104. PMID 22403400.
3. ^ a b c d e f g Goldfarb LG, Vicart P, Goebel HH, Dalakas MC (April 2004). "Desmin myopathy". Brain. 127 (Pt 4): 723–34. doi:10.1093/brain/awh033. PMID 14724127.
4. ^ Selcen, Duygu; Ohno, Kinji; Engel, Andrew G. (2004-02-01). "Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients". Brain. 127 (2): 439–451. doi:10.1093/brain/awh052. ISSN 0006-8950. PMID 14711882.
5. ^ Selcen, Duygu (October 29, 2012). "Myofibrillar Myopathy". GeneReviews. National Institute of Heath, United States.
## External links[edit]
Classification
D
* OMIM: 601419
* v
* t
* e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3
Myosin
* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly
Troponin
* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5
Tropomyosin
* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1
Titin
* Hypertrophic cardiomyopathy 9
Other
* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
* Larsen syndrome
* Terminal osseous dysplasia with pigmentary defects
IF
1/2
* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures
3
* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I
* GFAP: Alexander disease
* Peripherin: Amyotrophic lateral sclerosis
4
* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis
5
* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10
Dynein
* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3
Other
* Tauopathy
* Cavernous venous malformation
Membrane
* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
* Hereditary spherocytosis 1
Catenin
* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)
Other
* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8
* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna
* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9
* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
Related topics: Cytoskeletal 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
|
Desmin-related myofibrillar myopathy
|
c3809137
| 24,970 |
wikipedia
|
https://en.wikipedia.org/wiki/Desmin-related_myofibrillar_myopathy
| 2021-01-18T18:47:17 |
{"omim": ["615325"], "orphanet": ["363543"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency", "LGMD2R"], "wikidata": ["Q3331452"]}
|
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Prolymphocytic leukemia" – news · newspapers · books · scholar · JSTOR (January 2010) (Learn how and when to remove this template message)
Prolymphocytic leukemia
SpecialtyHematology, oncology
Prolymphocytic leukemia is divided into two types according to the kind of cell involved: B-cell prolymphocytic leukemia and T-cell prolymphocytic leukemia. It is usually classified as a kind of chronic lymphocytic leukemia.
## References[edit]
## External links[edit]
Classification
D
* ICD-O: 9832-9834
* MeSH: D015463
* SNOMED CT: 110006004
This article about a disease of the blood or immune 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
|
Prolymphocytic leukemia
|
c0023486
| 24,971 |
wikipedia
|
https://en.wikipedia.org/wiki/Prolymphocytic_leukemia
| 2021-01-18T18:57:52 |
{"gard": ["11965"], "mesh": ["D015463"], "umls": ["C0023486"], "icd-10": ["C91.3"], "wikidata": ["Q2112719"]}
|
A number sign (#) is used with this entry because of evidence that congenital contractural arachnodactyly (CCA) is caused by heterozygous mutation in the gene encoding fibrillin-2 (FBN2; 612570) on chromosome 5q23.
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Description
Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797).
Clinical Features
Beals and Hecht (1971) described father and 2 sons affected in 1 kindred and father, daughter and son (by different mothers) affected in a second kindred. They proposed that the disorder be called 'contractural arachnodactyly' and further suggested that the patient reported by Marfan (1896) had this disorder rather than the Marfan syndrome (154700) as presently delineated (Hecht and Beals, 1972). They found several other reports, apparently of the same disorder. Beyer et al. (1965) probably described the same condition in a mother and 4 children and some of the reports of combined Marfan syndrome and arthrogryposis multiplex congenita may be further examples (e.g., Reeve et al., 1960; Kingsley-Pillers, 1946). Epstein et al. (1968) described father and son with a connective tissue disorder with some features suggesting the Marfan syndrome and some suggesting osteogenesis imperfecta. Severe kyphoscoliosis, generalized osteopenia, flexion contractures of the fingers and abnormally shaped ears were among the characteristics. Abnormally shaped ('crumpled') ears have been emphasized by other students of CCA. According to Mirise and Shear (1979), the ocular and cardiovascular complications of the Marfan syndrome do not occur in contractural arachnodactyly (Mirise and Shear, 1979). Hence, the correct diagnosis has prognostic significance.
Bass et al. (1981) described CCA and Marfan syndrome in the same family. CCA was, however, the predominant finding in 4 generations of the family; the father of the propositus had keratoconus in addition to CCA. Pyeritz (1986) described several patients who had joint contractures and ear changes in the pinna seemingly characteristic of CCA but severe aortic changes typical of the Marfan syndrome. Bawle and Quigg (1992) described a black male with 'crumpled ear' deformity, scoliosis, and arachnodactyly, who had dilatation of the aortic root and ectopia lentis. They pointed to the patient of Reeve et al. (1960), an infant described as having 'Marfan syndrome and arthrogryposis,' who showed ectopia lentis in the right eye and in whom autopsy showed dilatation of the ascending aorta.
Anderson et al. (1984) reported a kindred in which many members of 3 generations showed features consistent with CCA. Of the 7 affected persons they examined, 6 had mitral valve prolapse. Family members without CCA did not have mitral valve prolapse. Although enlargement of the aortic root was not found, a 9-year-old girl was said to have 'an aortic diameter at the upper limits of normal.' Gruber et al. (1978) described severe mitral regurgitation in a premature infant with CCA. Reviewing 4 new families and 29 reported ones, Ramos Arroyo et al. (1985) stated that no ocular problems and no aortic problems have been encountered but that congenital heart defects have occurred 'in 14.7%.' Mitral regurgitation is a well-established feature of CCA; involvement of the aorta remains to be documented. Involvement of the eyes is also unclear. Huggon et al. (1990) described an infant girl with CCA complicated by mitral regurgitation. Although slit-lamp biomicroscopy showed no evidence of lens subluxation, the infant had iridodonesis apparently caused by anterior megalophthalmos. Langenskiold (1985) reported a case he followed for 37 years.
Currarino and Friedman (1986) described 2 unrelated infants with severe CCA, both of whom died in the first year of life. Cole and Hughes (1992) described an infant with presumed CCA who also had deficiency in the right lower limb. Viljoen et al. (1991) observed 8 affected persons in a family of Asiatic Indian descent. No linkage could be demonstrated with type I collagen probes (120150, 120160).
Viljoen (1994) published a review that included at least 40 families with more than 120 affected members with CCA.
### Comparison of CCA and Marfan Syndrome
Zhang et al. (1994) showed differences of expression of fibrillin-1 and fibrillin-2 in human ear cartilage. They noted that this may account for the fact that abnormally shaped (i.e., crumpled) auricular helices are a hallmark of CCA. Most persons with Marfan syndrome do not have abnormally shaped ears, although some with neonatal Marfan syndrome may have crumpled ears (Godfrey et al., 1995). Similarities between neonatal Marfan syndrome and severe lethal CCA include arachnodactyly, joint contractures, and some facial characteristics. Importantly, although both have severe cardiovascular abnormalities that lead to very early death, the specific cardiac changes are quite different. Wang et al. (1996) tabulated the differences between the 2 syndromes with valvular insufficiency and aortic root dilatation in neonatal Marfan syndrome and structural defects in severe lethal CCA; scoliosis and vertebral anomalies predominantly in CCA; and duodenal atresia, esophageal atresia, and intestinal malrotation only in CCA. Zhang et al. (1995) suggested that expression of fibrillin-2 directs the assembly of elastic fibers during early embryogenesis, whereas fibrillin-1 provides the major structural (i.e., load bearing) function of the microfibrils.
Mapping
In cloning the fibrillin gene (FBN1; 134797), located on chromosome 15 and mutant in the Marfan syndrome, Lee et al. (1991) isolated a cDNA for a second fibrillin locus, fibrillin-2 (612570). Study of 2 families with CCA demonstrated linkage between this locus and that phenotype; maximal combined lod score = 4.5 at theta = 0.00. For demonstrating linkage, a VNDR (variable number dinucleotide repeat) related to the FBN2 gene was used as the marker. The FBN2 gene was mapped to 5q23-q31 by in situ hybridization. The linkage between a candidate gene and a disease locus, although highly suggestive, does not constitute final proof of causal relationship. In this case, however, linkage between 2 structurally related genes (FBN1 and FBN2) and 2 phenotypically related disorders (Marfan syndrome and CCA, respectively) gave strong support to the causal association. Identification of mutations in the FBN2 gene in cases of CCA was required for final proof.
Molecular Genetics
Putnam and Milewicz (1995) and Wang et al. (1995) identified point mutations in the FBN2 gene in cases of CCA. A mutation in a calcium-binding EGF-like motif (612570.0001) was found by the first authors and a mutation in a TGF-binding protein-like motif (612570.0002) by the second group.
In the father of 2 sibs affected with CCA, Putnam et al. (1997) demonstrated somatic mosaicism for an FBN2 mutation. The 2 sisters had been reported by Delemarre-van de Waal et al. (1980). The proband had arachnodactyly, contractures, crumpled ears, a highly arched palate, and mild retrognathia evident at birth. From the age of 4 years she had progressive thoracolumbar scoliosis, which required surgical correction at the age of 13 years. At 18 years of age, she was 173 cm tall, had crumpled ears, a preauricular tag on the right side, a low posterior hairline, slight bilateral ptosis, and mild retrognathia. She also had striae on her thighs, mild pectus carinatum, arachnodactyly, and contractures of elbows, knees, and fingers. Echocardiogram and ophthalmologic examinations were normal. The sister showed similar findings at birth. Like the sister she had normal mental development but delayed motor development. At 21 years of age, she was 176 cm tall and had crumpled ears, slight midthoracic scoliosis, striae on the upper thighs, arachnodactyly, and contractures. Echocardiogram and ophthalmologic examinations were normal. Both parents were unaffected. Putnam et al. (1997) noted that the mutation (612570.0005), resulting in abnormal splicing of the exon, was an unusual alteration that disrupted the invariant A in a putative branch point sequence found in the upstream intron. Exon 29 was deleted in the mutant allele. Analysis of FBN2 transcript levels by use of fibroblasts from one of the affected sibs indicated that the allele inherited from the mother, which did not contain the exon splicing mutation, was reduced in expression. This difference in FBN2 allele expression levels was also observed in CCA cell strains with previously characterized mutations, which showed greater expression of the mutated alleles (Putnam et al., 1995). These data expanded the spectrum of mutations that cause CCA. Putnam et al. (1997) suggested that the effects of mutations on fibrillin-2 are similar to those observed in fibrillin-1 and Marfan syndrome.
Park et al. (1998) identified FBN2 mutations in 6 of 12 unrelated CCA patient cell strains. All of the identified mutations were clustered in a limited region of the gene, a region corresponding to that in FBN1 where mutations produce the severe, congenital form of Marfan syndrome, so-called neonatal Marfan syndrome. Furthermore, 3 of the identified mutations occurred in the FBN2 locations exactly corresponding to FBN1 mutations that had been reported in cases of neonatal Marfan syndrome. These mutations indicate that this central region of both fibrillins plays a critical role in human embryogenesis. The limited region of FBN2 that can be mutated to cause CCA may also help explain the rarity of CCA compared to Marfan syndrome.
Belleh et al. (2000) reported 2 additional FBN2 mutations in CCA: C1141F in exon 26 (612570.0008) and C1252W in exon 29 (612570.0009). As in previous cases, mutations clustered in the region of fibrillin-2 homologous to the so-called neonatal Marfan syndrome region of fibrillin-1 (FBN1; 134797) (Kainulainen et al., 1994).
Gupta et al. (2002) noted that all of the identified CCA mutations in FBN2 cluster in a limited region similar to that where severe Marfan syndrome mutations cluster in FBN1, specifically between exons 23 and 34. Gupta et al. (2002) screened exons 22 through 36 of FBN2 for mutations in 13 patients with classic CCA by single-stranded conformation polymorphism analysis followed by direct sequencing. They successfully identified 10 novel mutations in this critical region of FBN2 in these patients, indicating a mutation detection rate of 75% in this region. None of these identified FBN2 mutations alter amino acids in the calcium-binding consensus sequence in the EGF-like domains, whereas many of the FBN1 mutations alter the consensus sequence. Gupta et al. (2002) reviewed the 21 known CAA mutations in the FBN2 gene, along with available clinical information on the probands. They found that 3 of the 21 patients had dilatation of the aortic root. All 3 were young, and the degree of dilatation appeared to have been borderline in all. However, because of the lack of knowledge of the natural history of aortic involvement in CCA, Gupta et al. (2002) recommended that all CCA patients have an echocardiogram. They cited Su et al. (2000) as indicating that approximately 15% of CCA patients have congenital heart defects. Their review did not support this conclusion, instead suggesting that congenital heart defects are only an occasional finding in these patients.
Nomenclature
In a revised and extended classification scheme of the distal arthrogryposes, Bamshad et al. (1996) referred to this disorder as distal arthrogryposis type 9 (DA9).
Animal Model
Chaudhry et al. (2001) analyzed the classic mouse mutant 'Shaker-with-syndactylism' (sy) using a positional candidate approach. The authors demonstrated that several loss-of-function mutations, each located outside the 'neonatal region' of Fbn2, caused syndactyly in mice, rather than CCA as in man. The deafness in these animals is caused by mutations in the contiguous Na-K-2Cl cotransporter gene Slc12a2 (600840) (Dixon et al., 1999).
INHERITANCE \- Autosomal dominant GROWTH Other \- Dolichostenomelia \- Marfanoid habitus HEAD & NECK Head \- Scaphocephaly \- Brachycephaly \- Dolichocephaly Face \- Micrognathia (27%) \- Frontal bossing Ears \- Crumpled ear (76%) \- Poorly defined conchae \- Prominent crura \- Folded helices Eyes \- Ectopia lentis \- Myopia Mouth \- High-arched palate (28%) Neck \- Relatively short neck CARDIOVASCULAR Heart \- Mitral valve prolapse \- Mitral regurgitation \- Atrial septal defect \- Ventricular septal defect \- Bicuspid aortic valve Vascular \- Patent ductus arteriosus \- Aortic root dilatation CHEST Ribs Sternum Clavicles & Scapulae \- Pectus carinatum SKELETAL \- Osteopenia Spine \- Congenital kyphoscoliosis (45%) Pelvis \- Hip contractures (25%) Limbs \- Elbow contractures (86%) \- Knee contractures (81%) \- Subluxation of patella Hands \- Arachnodactyly \- Camptodactyly \- Ulnar deviation of fingers \- Adducted thumbs \- Flexion contractures of proximal interphalangeal joints Feet \- Metatarsus varus \- Talipes equinovarus (32%) MUSCLE, SOFT TISSUES \- Hypoplastic calf muscles NEUROLOGIC Central Nervous System \- Motor developmental delay MOLECULAR BASIS \- Caused by mutation in the fibrillin 2 gene (FBN2, 121050.0001 ) ▲ 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
|
CONTRACTURAL ARACHNODACTYLY, CONGENITAL
|
c0220668
| 24,972 |
omim
|
https://www.omim.org/entry/121050
| 2019-09-22T16:43:02 |
{"doid": ["0050646"], "mesh": ["C536211"], "omim": ["121050"], "orphanet": ["115"], "synonyms": ["Alternative titles", "ARTHROGRYPOSIS, DISTAL, TYPE 9", "BEALS SYNDROME"], "genereviews": ["NBK1386"]}
|
## Clinical Features
Giannotti et al. (1997) described a father and son with a progeroid syndrome characterized by an unusual facial appearance, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and clinodactyly ('finger deviation'). Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. The heart defect in the son was tetralogy of Fallot, which was corrected at the age of 4 years. At the age of 7, he showed sparse hair, prominent veins (particularly over the scalp and limbs), frontal bossing, upslanting palpebral fissures, bilateral blepharophimosis, prominent nose, short philtrum, small mouth, thin lips, rounded chin, and large, prominent, abnormally modeled ears, with folded helix, and prominent antehelix and antitragus. The fingers were long with partial cutaneous syndactyly of fingers 2 and 3 and clinocamptodactyly of the fifth fingers. Audiometric examination showed bilateral conductive deafness. The father was the first child of healthy, nonconsanguineous parents; his father was 33 and mother 28 years of age at the time of his birth. At the time of evaluation he was 48 years old. His facial anomalies were said to be superimposable to those found in his son, including blepharophimosis, prominent thin nose, short philtrum, small mouth, thin lips, and long prominent ears. There was radial deviation of the third fingers, ulnar deviation of the fourth fingers, and camptodactyly of the fifth fingers. Subcutaneous fat was sparse and a reticular venous pattern was prominent.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Microcephaly Face \- Short philtrum \- Frontal bossing Ears \- Prominent ears \- Conductive hearing loss Eyes \- Blepharophimosis \- Upslanting palpebral fissures Nose \- Prominent nose Mouth \- Thin lips \- Small mouth CARDIOVASCULAR Heart \- Tetralogy of Fallot SKELETAL Hands \- Long fingers \- Partial cutaneous syndactyly (2-3 fingers) \- Fifth finger camptodactyly \- Fifth finger clinodactyly SKIN, NAILS, & HAIR Skin \- Prominent veins (especially over scalp and limbs) Hair \- Sparse hair MUSCLE, SOFT TISSUES \- Sparse subcutaneous fat NEUROLOGIC Central Nervous System \- Mental retardation, mild PRENATAL MANIFESTATIONS Amniotic Fluid \- Oligohydramnios ▲ 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
|
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
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c1865699
| 24,973 |
omim
|
https://www.omim.org/entry/602249
| 2019-09-22T16:13:52 |
{"mesh": ["C566563"], "omim": ["602249"]}
|
Porcine intestinal spirochaetosis is a notifiable pig disease caused by certain spirochetal bacteria (Brachyspira hyodysenteriae and Brachyspira pilosicoli. Infection causes mild gastrointestinal signs in young pigs and can also be transmitted as intestinal spirochetosis in humans, as it is a zoonosis.
The disease is widespread in pig-rearing countries and may be referred to as PIS, spirochaetal diarrhoea and porcine colonic spirochaetosis.
## Clinical signs and diagnosis[edit]
Clinical signs are most commonly seen in young pigs aged eight to 14 weeks. Normally, a greyish diarrhoea is seen in individual piglets, and poor growth rates and feed conversion ratios are observed on a herd level.
Stress, caused by moving and mixing groups of piglets, can increase incidence.
A definitive diagnosis can be made by culturing the bacterium on a specific blood agar medium, followed by PCR. Alternatively, necropsy and histological examination of the large intestine can confirm the diagnosis.
## Treatment and control[edit]
Antibiotics are the treatment of choice. They should be administered by injection or in drinking water. Pig husbandry measures should be employed to ensure that stressors such as the mixing and moving of pigs are kept to a minimum to reduce disease incidence.
## References[edit]
* Porcine Intestinal Spirochaetosis, reviewed and published by WikiVet at http://en.wikivet.net/Porcine_Intestinal_Spirochaetosis, accessed 19/09/2011.
This veterinary medicine–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
|
Porcine intestinal spirochaetosis
|
None
| 24,974 |
wikipedia
|
https://en.wikipedia.org/wiki/Porcine_intestinal_spirochaetosis
| 2021-01-18T18:36:53 |
{"wikidata": ["Q2104382"]}
|
An increased risk for gonadoblastoma in phenotypic females with dysgenetic gonads and the presence of Y-chromosomal material is well established (Verp and Simpson, 1987). Page (1987) postulated the existence of a gene (GBY) on the Y chromosome with an undefined physiologic function in normal males but with the ability to predispose dysgenetic gonads to develop malignancy when present in females. On the basis of 2 reported cases of females with dysgenetic gonads, deleted Y chromosomes, and gonadoblastoma, Page (1987) argued that the GBY gene is located either near the centromere or on the long arm of the Y chromosome and is distinct from the testis-determining factor. Petrovic et al. (1992) described a 12-year-old girl who was referred for chromosome analysis because of short stature and was found to have a mosaic karyotype 45,X/46,X,+mar. The marker chromosome was found in 58% of the blood lymphocytes. DNA analysis using Y-specific probes showed absence of the testis-determining region and the presence of some short arm and centromeric Y-chromosomal material. In situ hybridization confirmed that the Y-chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. The case demonstrated that even very small Y-derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.
Tsuchiya et al. (1995) used sequence tagged sites to perform deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene was sublocalized to a small region near the centromere. They estimated the size of the GBY critical region to be approximately 1-2 Mb. Their analysis indicated that copies of the 2 dispersed Y-linked gene families, TSPY (480100) and YRRM (Y-chromosome RNA recognition motif; 400006) were present in all patients. Copies of TSPY but not YRRM fall within the GBY critical region as formally defined by deletion mapping. Two tumor samples showed expression of both genes and in one patient this expression was limited to a unilateral gonadoblastoma but absent in the contralateral streak gonad. Although the results of Tsuchiya et al. (1995) did not directly implicate TSPY or YRRM in the etiology of the tumor, they raised the issue of whether there is one GBY gene in the critical region or possibly multiple GBY loci dispersed on the Y chromosome.
Salo et al. (1995) attempted to map GBY by making use of a dense map of Y-chromosome sequence tagged sites (STSs). In 2 female patients with gonadoblastoma, small marker chromosomes contained portions of the Y chromosome, and a single region of overlap could be defined extending from probe pDP97 in interval 4B, which contains the centromere, to marker sY182 in interval 5E of the proximal long arm. This interval is contained in a YAC contig that comprises approximately 4 Mb of DNA. Their result confirmed the previous localization of GBY and greatly refined it. The localization overlaps with the region to which GCY (475000), a putative growth determinant, had been assigned.
By PCR, Gravholt et al. (2000) examined 114 females with Turner syndrome for the presence of Y-chromosomal material and found 14 who had Y-chromosomal material. The karyotype in 7 of these patients did not suggest the presence of Y-chromosomal material. Seven of the patients had been ovariectomized before entering the study due to verified Y-chromosomal material, whereas 3 patients were operated upon after the DNA analysis. The histopathologic evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The authors concluded that the frequency of Y-chromosomal material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7-10%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias.
Oncology \- Gonadoblastoma risk GU \- Phenotypic females with dysgenetic gonads Lab \- Presence of Y-chromosomal material Inheritance \- Y-linked (pericentromeric vs. Yq) ▲ 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
|
GONADOBLASTOMA
|
c0206661
| 24,975 |
omim
|
https://www.omim.org/entry/424500
| 2019-09-22T16:16:59 |
{"doid": ["3301"], "mesh": ["D018238"], "omim": ["424500"], "orphanet": ["206484"], "synonyms": []}
|
For transmission by larger droplets, see Respiratory droplet.
Disease transmission caused by pathogens and transmitted through the air by small droplets or aerosols
A poster outlining precautions for airborne transmission in healthcare settings. It is intended to be posted outside rooms of patients with an infection that can spread through airborne transmission.[1]
An airborne transmission is disease transmission through small particulates that can be transmitted through the air over time and distance.[2] Diseases capable of airborne transmission include many of considerable importance both in human and veterinary medicine. The relevant pathogens may be viruses, bacteria, or fungi, and they may be spread through breathing, talking, coughing, sneezing, raising of dust, spraying of liquids, flushing toilets, or any activities which generate aerosol particles or droplets. Human airborne diseases do not include conditions caused by air pollution such as volatile organic compounds (VOCs), gases and any airborne particles.
Airborne transmission is distinct from transmission by respiratory droplets. Respiratory droplets are large enough to fall to the ground rapidly after being produced,[3] as opposed to the smaller particles that carry airborne pathogens. Also, while respiratory droplets consist mostly of water, airborne particles are relatively dry, which damages many pathogens so that their ability to transmit infection is lessened or eliminated. Thus the number of pathogens that can be transmitted through an airborne route is limited.[4][5][6]
Both aerosols and respiratory droplets are part of the respiratory route of transmitting communicable diseases. Individuals generate aerosols and droplets across a wide range of sizes and concentrations, and the amount produced varies widely by person and activity.[7] Larger droplets, greater than 100 μm fall to the ground, and settle within 2 m, except when propelled.[7][3] Smaller particles can carry airborne pathogens for extended periods of time. There is a greater concentration of airborne pathogens within 2m, however they can travel farther and build up in concentration in a room.
The traditional hard size cutoff of 5 μm between airborne and respiratory droplets has been criticized as a false dichotomy not grounded in science, as exhaled particles form a continuum of sizes whose fates depend on environmental conditions in addition to their initial sizes. However, it has informed hospital based transmission based precautions for decades.[7] Recent data on indoor respiratory secretion transfer suggest that droplets/aerosols in the 20 μm size range initially travel with the air flow from cough jets and air conditioning like aerosols but fall out gravitationally at a larger distance;[8] as this size range is most efficiently filtered out in the nasal mucosa,[9] the primordial infection site in Covid-19, aerosols/droplets in this size range may contribute to driving the Covid-19 pandemic.
## Contents
* 1 Overview
* 2 Routes of transmission
* 2.1 Relative Humidity (RH)
* 3 Transmission
* 4 Prevention
* 5 See also
* 6 References
## Overview[edit]
Airborne diseases include any that are caused via transmission through the air. Many airborne diseases are of great medical importance. The pathogens transmitted may be any kind of microbe, and they may be spread in aerosols, dust or liquids. The aerosols might be generated from sources of infection such as the bodily secretions of an infected animal or person, or biological wastes such as accumulate in lofts, caves, garbage and the like. Such infected aerosols may stay suspended in air currents long enough to travel for considerable distances; sneezes, for example, can easily project infectious droplets the full length of a bus.[10]
Airborne pathogens or allergens often cause inflammation in the nose, throat, sinuses and the lungs. This is caused by the inhalation of these pathogens that affect a person's respiratory system or even the rest of the body. Sinus congestion, coughing and sore throats are examples of inflammation of the upper respiratory air way due to these airborne agents. Air pollution plays a significant role in airborne diseases which is linked to asthma. Pollutants are said to influence lung function by increasing air way inflammation.[11]
Many common infections can spread by airborne transmission at least in some cases, including but not limited to: COVID-19;[12] measles morbillivirus, chickenpox virus;[4] Mycobacterium tuberculosis, influenza virus, enterovirus, norovirus and less commonly coronavirus, adenovirus, and possibly respiratory syncytial virus.[13] Because the drying process often damages the pathogens, the number of diseases that can be spread through an airborne route is limited.[4]
Airborne diseases can also affect non-humans. For example, Newcastle disease is an avian disease that affects many types of domestic poultry worldwide which is transmitted via airborne contamination.[14] Often, airborne pathogens or allergens cause inflammation in the nose, throat, sinuses, and the upper airway lungs. Upper airway inflammation causes coughing congestion, and sore throat. This is caused by the inhalation of these pathogens that affect a person's respiratory system or even the rest of the body. Sinus congestion, coughing and sore throats are examples of inflammation of the upper respiratory air way due to these airborne agents.[citation needed]
## Routes of transmission[edit]
Airborne infections usually occur by the respiratory route, with the agent present in aerosols (infectious particles < 5 µm in diameter).[15] This includes dry particles, often the remainders of an evaporated wet particle called nuclei, and wet particles. This kind of infection usually requires independent ventilation during treatment. e.g., tuberculosis.
### Relative Humidity (RH)[edit]
Relative humidity (RH) plays an important role in the evaporation of droplets and the distance they travel. The 30 μm droplets evaporate in seconds.[16]
The CDC recommends a minimum of 40% RH indoors.[17] Maintaining indoor relative humidity >40% will significantly reduce the infectivity of aerosolized virus. An ideal humidity for preventing aerosol respiratory viral transmission at room temperature appears to be between 40% and 60% RH. If the relative humidity goes below 35% RH, there is more virus in the air.
## Transmission[edit]
Environmental factors influence the efficacy of airborne disease transmission; the most evident environmental conditions are temperature and relative humidity. The sum of all the factors that influence temperature and humidity, either meteorological (outdoor) or human (indoor), as well as other circumstances influencing the spread of droplets containing infectious particles, as winds, or human behavior, influence the transmission of airborne diseases.[citation needed]
* Rainfall, the number of rainy days[18] being more important than total precipitation;[19][20] mean daily sunshine hours;[21] latitude and altitude[19] are relevant when assessing the possibility of spread of any airborne infection. Some infrequent or exceptional events influence the dissemination of airborne diseases, including tropical storms, hurricanes, typhoons, or monsoons.[22]
Climate determines temperature, winds and relative humidity, the main factors affecting the spread, duration and infectiousness of droplets containing infectious particles. The influenza virus is spread easily in the Northern Hemisphere winter due to climate conditions which favour the infectiousness of the virus.[citation needed]
* After isolated weather events, the concentration of airborne fungal spores is decreased; a few days later, an exponentially increased number of spores is found, compared to normal conditions.[23]
* Socioeconomics has a minor role in airborne disease transmission. In cities, the spread of airborne disease is more rapid than in rural areas and urban outskirts. Rural areas generally favor higher airborne fungal dissemination.[24]
* Proximity to large bodies of water such as rivers and lakes can be a cause of some outbreaks of airborne disease.[22]
* Poor maintenance of air conditioning systems has led to outbreaks of Legionella pneumophila.[25]
* Hospital-acquired airborne diseases are associated with poorly-resourced medical systems, which make isolation challenging.[citation needed]
## Prevention[edit]
Some ways to prevent airborne diseases include disease-specific immunization, wearing a respirator and limiting time spent in the presence of any patient likely to be a source of infection.[26] Exposure to a patient or animal with an airborne disease does not guarantee contracting the disease, as infection is dependent on host immune system competency plus the quantity of infectious particles ingested.[26]
Antibiotics may be used in dealing with air-borne bacterial primary infections, such as pneumonic plague.[27]
The United States Centers for Disease Control and Prevention (CDC) advises the public about vaccination and following careful hygiene and sanitation protocols for airborne disease prevention.[28] Many public health specialists recommend physical distancing (also known as social distancing) to reduce the transmission of airborne infections.[29]
A 2011 study concluded that vuvuzelas (a type of air horn popular e.g. with fans at football games) presented a particularly high risk of airborne transmission when their operator has a respiratory infection, as they were spreading a much higher number of aerosol particles than e.g. the act of shouting.[30]
## See also[edit]
* Basic reproduction number
* Vector (epidemiology)
* Waterborne diseases
* Zoonosis
## References[edit]
1. ^ "Transmission-Based Precautions". U.S. Centers for Disease Control and Prevention. 7 January 2016. Retrieved 31 March 2020.
2. ^ Siegel JD, Rhinehart E, Jackson M, Chiarello L, Healthcare Infection Control Practices Advisory Committee. "2007 Guideline for Isolation Precautions: Preventing Transmission of Infectious Agents in Healthcare Settings" (PDF). CDC. p. 19. Retrieved 7 February 2019. "Airborne transmission occurs by dissemination of either airborne droplet nuclei or small particles in the respirable size range containing infectious agents that remain infective over time and distance"
3. ^ a b Zhang N, Chen W, Chan PT, Yen HL, Tang JW, Li Y (July 2020). "Close contact behavior in indoor environment and transmission of respiratory infection". Indoor Air. 30 (4): 645–661. doi:10.1111/ina.12673. PMID 32259319.
4. ^ a b c "FAQ: Methods of Disease Transmission". Mount Sinai Hospital (Toronto). Retrieved 31 March 2020.
5. ^ Atkinson J, Chartier Y, Pessoa-Silva CL, Jensen P, Li Y, Seto WH (2009). "Annex C: Respiratory droplets". Natural Ventilation for Infection Control in Health-Care Settings. World Health Organization. ISBN 978-92-4-154785-7.
6. ^ Morawska L (October 2006). "Droplet fate in indoor environments, or can we prevent the spread of infection?" (PDF). Indoor Air. 16 (5): 335–47. doi:10.1111/j.1600-0668.2006.00432.x. PMID 16948710.
7. ^ a b c National Academies Of Sciences E, Staudt A, Saunders J, Pavlin J, Shelton-Davenport M, et al. (Environmental Health Matters Initiative, National Academies of Sciences, Engineering, and Medicine) (22 October 2020). Shelton-Davenport M, Pavlin J, Saunders J, Staudt A (eds.). Airborne Transmission of SARS-CoV-2: Proceedings of a Workshop in Brief. Washington, D.C.: National Academies Press. doi:10.17226/25958. ISBN 978-0-309-68408-8. PMID 33119244.
8. ^ Hunziker, Patrick (16 December 2020). "Minimizing exposure to respiratory droplets, 'jet riders' and aerosols in air-conditioned hospital rooms by a 'Shield-and-Sink' strategy". doi:10.1101/2020.12.08.20233056. Cite journal requires `|journal=` (help)
9. ^ Kesavanathan, Jana; Swift, David L. (January 1998). "Human Nasal Passage Particle Deposition: The Effect of Particle Size, Flow Rate, and Anatomical Factors". Aerosol Science and Technology. 28 (5): 457–463. doi:10.1080/02786829808965537. ISSN 0278-6826.
10. ^ https://www.chicagotribune.com/opinion/ct-xpm-2014-04-19-ct-sneeze-germs-edit-20140419-story.html
11. ^ "Airborne diseases". Archived from the original on 28 June 2012. Retrieved 21 May 2013.
12. ^ "COVID-19: epidemiology, virology and clinical features". GOV.UK. Retrieved 24 October 2020.
13. ^ La Rosa G, Fratini M, Della Libera S, Iaconelli M, Muscillo M (1 June 2013). "Viral infections acquired indoors through airborne, droplet or contact transmission". Annali dell'Istituto Superiore di Sanita. 49 (2): 124–32. doi:10.4415/ANN_13_02_03. PMID 23771256.
14. ^ Mitchell BW, King DJ (October–December 1994). "Effect of negative air ionization on airborne transmission of Newcastle disease virus". Avian Diseases. 38 (4): 725–32. doi:10.2307/1592107. JSTOR 1592107. PMID 7702504.
15. ^ "Prevention of hospital-acquired infections" (PDF). World Health Organization (WHO).
16. ^ Bahl P, Doolan C, de Silva C, Chughtai AA, Bourouiba L, MacIntyre CR (April 2020). "Airborne or droplet precautions for health workers treating COVID-19?". The Journal of Infectious Diseases. doi:10.1093/infdis/jiaa189. PMC 7184471. PMID 32301491.
17. ^ Noti JD, Blachere FM, McMillen CM, Lindsley WG, Kashon ML, Slaughter DR, Beezhold DH (2013). "High humidity leads to loss of infectious influenza virus from simulated coughs". PLOS ONE. 8 (2): e57485. Bibcode:2013PLoSO...857485N. doi:10.1371/journal.pone.0057485. PMC 3583861. PMID 23460865.
18. ^ Pica N, Bouvier NM (February 2012). "Environmental factors affecting the transmission of respiratory viruses". Current Opinion in Virology. 2 (1): 90–5. doi:10.1016/j.coviro.2011.12.003. PMC 3311988. PMID 22440971.
19. ^ a b Rodríguez-Rajo FJ, Iglesias I, Jato V (April 2005). "Variation assessment of airborne Alternaria and Cladosporium spores at different bioclimatical conditions". Mycological Research. 109 (Pt 4): 497–507. CiteSeerX 10.1.1.487.177. doi:10.1017/s0953756204001777. PMID 15912938.
20. ^ Peternel R, Culig J, Hrga I (2004). "Atmospheric concentrations of Cladosporium spp. and Alternaria spp. spores in Zagreb (Croatia) and effects of some meteorological factors". Annals of Agricultural and Environmental Medicine. 11 (2): 303–7. PMID 15627341.
21. ^ Sabariego S, Díaz de la Guardia C, Alba F (May 2000). "The effect of meteorological factors on the daily variation of airborne fungal spores in Granada (southern Spain)". International Journal of Biometeorology. 44 (1): 1–5. Bibcode:2000IJBm...44....1S. doi:10.1007/s004840050131. PMID 10879421. S2CID 17834418.
22. ^ a b Hedlund C, Blomstedt Y, Schumann B (2014). "Association of climatic factors with infectious diseases in the Arctic and subarctic region--a systematic review". Global Health Action. 7: 24161. doi:10.3402/gha.v7.24161. PMC 4079933. PMID 24990685.
23. ^ Khan NN, Wilson BL (2003). "An environmental assessment of mold concentrations and potential mycotoxin exposures in the greater Southeast Texas area". Journal of Environmental Science and Health. Part A, Toxic/Hazardous Substances & Environmental Engineering. 38 (12): 2759–72. doi:10.1081/ESE-120025829. PMID 14672314. S2CID 6906183.
24. ^ Tang JW (December 2009). "The effect of environmental parameters on the survival of airborne infectious agents". Journal of the Royal Society, Interface. 6 Suppl 6: S737-46. doi:10.1098/rsif.2009.0227.focus. PMC 2843949. PMID 19773291.
25. ^ "Legionnaire disease". Retrieved 12 April 2015.
26. ^ a b American Academy of Orthopaedic Surgeons (AAOS) (2011). Bloodborne and Airborne Pathogens. Jones & Barlett Publishers. p. 2. ISBN 9781449668273. Retrieved 21 May 2013.
27. ^ Laura Ester Ziady; Nico Small (2006). Prevent and Control Infection: Application Made Easy. Juta and Company Ltd. pp. 119–120. ISBN 9780702167904.
28. ^ "Redirect - Vaccines: VPD-VAC/VPD menu page". 7 February 2019.
29. ^ Glass RJ, Glass LM, Beyeler WE, Min HJ (November 2006). "Targeted social distancing design for pandemic influenza". Emerging Infectious Diseases. 12 (11): 1671–81. doi:10.3201/eid1211.060255. PMC 3372334. PMID 17283616.
30. ^ Lai KM, Bottomley C, McNerney R (23 May 2011). "Propagation of respiratory aerosols by the vuvuzela". PLOS ONE. 6 (5): e20086. Bibcode:2011PLoSO...620086L. doi:10.1371/journal.pone.0020086. PMC 3100331. PMID 21629778.
* v
* t
* e
Concepts in infectious disease
Transmission
Basic concepts
* Asymptomatic carrier
* Host
* Incubation period
* Index case
* Infectious period
* Latent period
* Natural reservoir
* Subclinical infection
* Super-spreader
Modes
* Human-to-human transmission
* Horizontal
* Vertical
* Cross-species transmission
* Spillover infection
* Vector
* Zoonosis
* Reverse zoonosis
Routes
* Airborne disease
* Blood-borne disease
* Foodborne illness
* Waterborne disease
* Hospital-acquired infection
* Fomite
* Fecal-oral route
* Sexual
Modelling
* Attack rate
* Basic reproduction number
* Compartmental models in epidemiology
* Critical community size
* Herd immunity
* Infection rate
* Serial interval
* Transmission risks and rates
Medication
* Antimicrobial
* Antibiotic
* Antiviral drug
* Antimicrobial resistance
* Immunotherapy
* Phage therapy
* Vaccination
Emerging infections
* Disease X
* Emergent virus
Other
* Discovery of disease-causing pathogens
* Eradication of infectious diseases
* Pandemic
*[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
|
Airborne transmission
|
None
| 24,976 |
wikipedia
|
https://en.wikipedia.org/wiki/Airborne_transmission
| 2021-01-18T18:38:06 |
{"wikidata": ["Q381481"]}
|
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.
## Epidemiology
The disease affects individuals of Ashkenazi Jewish ancestry. The prevalence at birth in the Ashkenazi Jewish population is estimated at 1/10,000 in North America and 1/3,700 in Israel.
## Clinical description
The disease is present at birth and is progressive. Initial symptoms (from birth to 3 years) include swallowing problems, aspiration pneumonia, hypotonia, temperature and blood pressure instability, and delayed development. Lack of fungiform papilla on the tongue and absence of tears with emotional crying are classic features, but not easily recognized (the tongue appears inconspicuous and lack of overflow tears is normal until about seven months of age). No obvious dysmorphism is present at birth, but a characteristic facial expression develops over time. Pain and temperature perception are decreased, but not absent. Proprioception and vibration sense are markedly decreased. Deep tendon reflexes are absent. Feeding difficulties due to gastrointestinal dysmotility (oropharyngeal incoordination, abnormal esophageal peristalsis, erratic gastric emptying, gastroesophageal reflux) occur early and may persist throughout life. Episodes of protracted vomiting attacks and hypertension termed 'autonomic crises'' can be recurrent. Forty percent of the patients manifest a cyclical crisis pattern that can occur daily, weekly, or monthly with personality changes ranging from irritability and withdrawal to general excitation. Chronic lung disease (secondary to repeated aspirations), restrictive lung disease (imposed by scoliosis), and chemoreceptor dysfunction (resulting in blunted responses to hypoxemia) are frequent. Orthostatic hypotension without compensatory tachycardia is always present, as well as episodic hypertension in response to emotional stress or visceral pain. Chronic renal failure is common. Progressive optic neuropathy and neurotrophic keratopathy result in severe visual loss. There is ample phenotypic variation particularly in cognitive abilities. Severe kyphoscoliosis and short stature are common.
## Etiology
The disease is due to a founder mutation in the ELP1 gene (9q31), encoding elongator-1 protein, resulting in a truncated unstable protein. ELP1 is implicated in the migration, survival, and myelination of neurons during development and, in humans, the mutation affects the development of primary sensory and autonomic neurons.
## Diagnostic methods
Diagnosis is based upon clinical recognition of both sensory and autonomic dysfunction as well as alacrima, absent fungiform papillae, and abnormal histamine test with absent axon flare. Genetic testing provides a definitive diagnosis.
## Differential diagnosis
Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN). Normal or increased sweating easily distinguishes familial dysautonomia (FD) from HSAN4, also hypertensive crises are unique to FD and not present in other HSANs. Deep tendon reflexes are absent in FD.
## Antenatal diagnosis
Prenatal diagnosis is possible in families where the pathogenic variant has previously been identified.
## Genetic counseling
The pattern of inheritance is autosomal recessive. Where both parents are unaffected carriers, the risk of disease transmission to offspring is 25%. Offspring of affected individuals are obligate carriers.
## Management and treatment
Management should be tailored for each patient, as the clinical expression varies considerably. It is supportive and mainly directed towards protecting the cornea, and management of gastrointestinal dysfunction, respiratory dysfunction, and blood pressure lability.
## Prognosis
Average age of death is in the third decade of life but patients may live into the seventh decade.
*[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
|
Familial dysautonomia
|
c0013364
| 24,977 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1764
| 2021-01-23T18:55:27 |
{"gard": ["7581"], "mesh": ["D004402"], "omim": ["223900"], "umls": ["C0013364"], "icd-10": ["G90.1"], "synonyms": ["HSAN3", "Hereditary sensory and autonomic neuropathy type 3", "Hereditary sensory and autonomic neuropathy type III", "Riley-Day syndrome"]}
|
Familial renal amyloidosis
Other namesFamilial visceral amyloidosis, hereditary amyloid nephropathy
This condition is inherited in an autosomal dominant manner
SpecialtyNephrology
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.[1]
It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis).[2][3] and, less commonly, with congenital mutations in apolipoprotein A1[4] and lysozyme.[5][6]
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.[7][8]
## References[edit]
1. ^ "Amyloid".
2. ^ Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology. 20 (2): 444–51. doi:10.1681/ASN.2008060614. PMC 2637055. PMID 19073821.
3. ^ Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid. 5 (3): 188–92. doi:10.3109/13506129809003844. PMID 9818055.
4. ^ Soutar AK, Hawkins PN, Vigushin DM, et al. (August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16): 7389–93. Bibcode:1992PNAS...89.7389S. doi:10.1073/pnas.89.16.7389. PMC 49715. PMID 1502149.
5. ^ Granel B, Serratrice J, Disdier P, et al. (March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321–2. doi:10.1016/j.amjmed.2004.10.022. PMID 15745733.
6. ^ Granel B, Valleix S, Serratrice J, et al. (January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore). 85 (1): 66–73. doi:10.1097/01.md.0000200467.51816.6d. PMID 16523055.
7. ^ Ostertag B. (1932). "Demonstration einer eigenartigen familiaren paraamyloidose". Zentralbl Aug Pathol. 56: 253–4.
8. ^ Ostertag, B. (1950). "Familiaere Amyloid-erkrankung". Z. Menschl. Vererb. Konstitutionsl. 30: 105–115.
## External links[edit]
Classification
D
* ICD-10: E85.0
* ICD-9-CM: 277.3
* OMIM: 105200
* MeSH: C538249
* DiseasesDB: 33335
External resources
* eMedicine: med/3379
* v
* t
* e
Amyloidosis
Common amyloid forming proteins
* AA
* ATTR
* Aβ2M
* AL
* Aβ/APP
* AIAPP
* ACal
* APro
* AANF
* ACys
* ABri
Systemic amyloidosis
* AL amyloidosis
* AA amyloidosis
* Aβ2M/Haemodialysis-associated
* AGel/Finnish type
* AA/Familial Mediterranean fever
* ATTR/Transthyretin-related hereditary
Organ-limited amyloidosis
Heart
AANF/Isolated atrial
Brain
* Familial amyloid neuropathy
* ACys+ABri/Cerebral amyloid angiopathy
* Aβ/Alzheimer's disease
Kidney
* AApoA1+AFib+ALys/Familial renal
Skin
* Primary cutaneous amyloidosis
* Amyloid purpura
Endocrine
Thyroid
ACal/Medullary thyroid cancer
Pituitary
APro/Prolactinoma
Pancreas
AIAPP/Insulinoma
AIAPP/Diabetes mellitus type 2
* v
* t
* e
Disease of the kidney glomerules
Primarily
nephrotic
Non-proliferative
* Minimal change
* Focal segmental
* Membranous
Proliferative
* Mesangial proliferative
* Endocapillary proliferative
* Membranoproliferative/mesangiocapillary
By condition
* Diabetic
* Amyloidosis
Primarily
nephritic,
RPG
Type I RPG/Type II hypersensitivity
* Goodpasture syndrome
Type II RPG/Type III hypersensitivity
* Post-streptococcal
* Lupus
* diffuse proliferative
* IgA
Type III RPG/Pauci-immune
* Granulomatosis with polyangiitis
* Microscopic polyangiitis
* Eosinophilic granulomatosis with polyangiitis
General
* glomerulonephritis
* glomerulonephrosis
* v
* t
* e
Inborn error of lipid metabolism: dyslipidemia
Hyperlipidemia
* Hypercholesterolemia/Hypertriglyceridemia
* Lipoprotein lipase deficiency/Type Ia
* Familial apoprotein CII deficiency/Type Ib
* Familial hypercholesterolemia/Type IIa
* Combined hyperlipidemia/Type IIb
* Familial dysbetalipoproteinemia/Type III
* Familial hypertriglyceridemia/Type IV
* Xanthoma/Xanthomatosis
Hypolipoproteinemia
Hypoalphalipoproteinemia/HDL
* Lecithin cholesterol acyltransferase deficiency
* Tangier disease
Hypobetalipoproteinemia/LDL
* Abetalipoproteinemia
* Apolipoprotein B deficiency
* Chylomicron retention disease
Lipodystrophy
* Barraquer–Simons syndrome
Other
* Lipomatosis
* Adiposis dolorosa
* Lipoid proteinosis
* APOA1 familial renal amyloidosis
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
|
Familial renal amyloidosis
|
c0268389
| 24,978 |
wikipedia
|
https://en.wikipedia.org/wiki/Familial_renal_amyloidosis
| 2021-01-18T19:00:03 |
{"gard": ["8282"], "mesh": ["C538249"], "umls": ["C0268389"], "icd-9": ["277.3"], "icd-10": ["E85.0"], "orphanet": ["85450"], "wikidata": ["Q13581332"]}
|
A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Urachal cysts may be monitored, or they may be treated with surgery to drain the cyst and/or remove the urachus.
*[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
|
Urachal cyst
|
c0041915
| 24,979 |
gard
|
https://rarediseases.info.nih.gov/diseases/5425/urachal-cyst
| 2021-01-18T17:57:13 |
{"mesh": ["D014496"], "umls": ["C0041915"], "synonyms": []}
|
Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some 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
|
Juvenile retinoschisis
|
c0271091
| 24,980 |
gard
|
https://rarediseases.info.nih.gov/diseases/4690/juvenile-retinoschisis
| 2021-01-18T17:59:39 |
{"mesh": ["D041441"], "omim": ["312700"], "umls": ["C0271091"], "orphanet": ["792"], "synonyms": ["X-linked juvenile retinoschisis", "XJR", "X-linked retinoschisis", "Retinoschisis X-linked", "Retinoschisis juvenile X chromosome-linked"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-26 (DFNB26) is caused by homozygous mutation in the GAB1 gene (604439) on chromosome 4q31. Homozygous individuals who also carry a heterozygous mutation in the METTL13 gene (617987) on chromosome 1q24 do not develop deafness (see DFNB26M; 605429). One such family has been reported.
Description
DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss (Yousaf et al., 2018).
Mapping
In a consanguineous Pakistani family (PK2), Riazuddin et al. (2000) mapped an autosomal recessive nonsyndromic deafness locus, DFNB26, to a 1.5-cM interval of chromosome 4q31. A maximum lod score of 8.10 at theta = 0.0 was obtained with D4S1610 when only the 8 affected individuals in this family were included in the calculation. There were 7 unaffected family members who were also homozygous for the DFNB26-linked haplotype and thus were nonpenetrant. Riazuddin et al. (2000) also mapped a dominant deafness modifier, designated DFNM1 (605429), that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta = 0.0 for D1S2815.
Molecular Genetics
In a large consanguineous Pakistani family (PK2) with prelingual severe to profound nonsyndromic hearing loss, originally studied by Riazuddin et al. (2000), Yousaf et al. (2018) performed Sanger sequencing of all annotated genes within the DFNB26 linkage interval and identified homozygosity for a missense mutation in the GAB1 gene (G116E; 604439.0001) that segregated fully with the DFNB26-linked haplotype present in 8 deaf and 7 nonpenetrant hearing members of the family. In addition, within the deafness-modifier interval on chromosome 1q24 that had been shown to segregate only with nonpenetrant hearing members of the family, Yousaf et al. (2018) identified heterozygosity for a missense mutation in the METTL13 gene (R544Q; 617987.0001) that segregated fully with nonpenetrance for the deafness phenotype in the 7 hearing members of the family who were homozygous for the GAB1 variant. None of the deaf family members carried the METTL13 R544Q variant. Analysis of 37 genes in the MET (164860)/HGF (142409)-signaling pathway revealed 1 gene, SPRY2 (602466), that was significantly upregulated in deaf family members but not in the nonpenetrant individuals. The authors suggested that differential regulation of SPRY2 might be the mechanism by which the METTL13 variant functions as a modifier to prevent GAB1-associated deafness.
### Reviews
Nadeau (2001) reviewed modifier genes in mice and humans, dividing the types of modification as follows: reduced penetrance, dominance modification, expressivity, and pleiotropy. The DFNB26 gene results in reduced penetrance.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, prelingual sensorineural (severe to profound) MISCELLANEOUS \- Based on a description of a large consanguineous Pakistani family (last curated June 2018) \- Homozygous individuals who also carry a heterozygous mutation in the METTL13 gene ( 617987.0001 ) do not develop deafness ( 605429 ) MOLECULAR BASIS \- Caused by mutation in the Grb2-associated binding protein 1 gene (GAB1, 604439.0001 ) ▲ 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
|
DEAFNESS, AUTOSOMAL RECESSIVE 26
|
c1854275
| 24,981 |
omim
|
https://www.omim.org/entry/605428
| 2019-09-22T16:11:19 |
{"doid": ["0110484"], "mesh": ["C565329"], "omim": ["605428"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
|
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
*[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
|
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
|
c3888018
| 24,982 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276580
| 2021-01-23T17:58:20 |
{"mesh": ["D044903"], "omim": ["601820"], "icd-10": ["E16.1"], "synonyms": ["Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "Dominant KATP hyperinsulinism due to Kir6.2 deficiency"]}
|
Indian childhood cirrhosis is a chronic liver disease of childhood characterised by cirrhosis of the liver[1] due to deposition of copper in the liver.[2] It primarily affects children of 1–3 years of age and has a genetic predisposition. It had a very high case fatality in the past[3] but has eventually become preventable, treatable and is now rare.[4]
## Variants[edit]
* North American Indian childhood cirrhosis [5]
## References[edit]
1. ^ Editorial (August 2008). "Indian childhood cirrhosis: Several dilemmas resolved" (PDF). Indian J Med Res. 128 (2): 93–96. PMID 19001668.
2. ^ Tanner, MS (May 1998). "Role of copper in Indian childhood cirrhosis". The American Journal of Clinical Nutrition. 67 (5 Suppl): 1074S–1081S. doi:10.1093/ajcn/67.5.1074S. PMID 9587155.
3. ^ Nayak, NC; et al. "Indian childhood cirrhosis-A reevaluation of its pathognomonic features and their significance in the light of clinical data and natural history of the disease" (PDF). Cite journal requires `|journal=` (help)
4. ^ Pandit, A; Bhave, S (May 1996). "Present interpretation of the role of copper in Indian childhood cirrhosis". The American Journal of Clinical Nutrition. 63 (5): 830S–5S. doi:10.1093/ajcn/63.5.830. PMID 8615370.
5. ^ Richter, A; Mitchell, GA; Rasquin, A (Nov 2007). "[North American Indian childhood cirrhosis (NAIC)]". Médecine/Sciences. 23 (11): 1002–7. doi:10.1051/medsci/200723111002. PMID 18021715.
## Further reading[edit]
* North American Indian childhood cirrhosis on Genetics Home Reference
* Paton, A (October 17, 1981). "Indian childhood cirrhosis". Br Med J (Clin Res Ed). 283 (6298): 1006. doi:10.1136/bmj.283.6298.1006. PMC 1507261. PMID 6794739.
* Raju, VB; Sundaravalli, N; Sriramachari, S (Nov–Dec 1980). "Indian childhood cirrhosis: clinical features, prognosis and treatment". Indian Journal of Pediatrics. 47 (389): 537–41. doi:10.1007/BF02822546. PMID 7262970. S2CID 30670129.
* Bavdekar, AR; Bhave, SA; Pradhan, AM; Pandit, AN; Tanner, MS (1996). "Long term survival in Indian childhood cirrhosis treated with D-penicillamine". Archives of Disease in Childhood. 74 (1): 32–35. doi:10.1136/adc.74.1.32. PMC 1511595. PMID 8660042.
* Nayak N.C.; Chitale A.R. (2013). "Indian childhood cirrhosis (ICC) & ICC-like diseases: The changing scenario of facts versus notions". Indian J. Med. Res. 137 (6): 1029–42. PMC 3734708. PMID 23852284.
*[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
|
Indian childhood cirrhosis
|
c0268074
| 24,983 |
wikipedia
|
https://en.wikipedia.org/wiki/Indian_childhood_cirrhosis
| 2021-01-18T18:51:14 |
{"mesh": ["C562580"], "umls": ["C0268074"], "wikidata": ["Q17135346"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant torsion dystonia-4 (DYT4) is caused by heterozygous mutation in the TUBB4A gene (602662) on chromosome 19p13.
Mutation in the TUBB4A gene can also cause hypomyelinating leukodystrophy-6 (HLD6; 612438), a more severe disorder.
Description
Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).
Clinical Features
Parker (1985) described an extensive Australian kindred in which persons through 4 generations and by implication a fifth had torsion dystonia manifested mainly by a whispering dysphonia. They were able to shout and yell when emotional, had no trouble communicating after drinking alcohol, and talked normally in their sleep, yet when they tried under most circumstances to speak their voices came out only in a faint whisper. The ailment sometimes progressed to the point that the affected persons were unable to utter a sound when trying to speak. In some persons the whispering dysphonia continued throughout life as an isolated feature but more commonly it was the initial presentation of a 'more pervasive disease with extremely varied expression.' One living affected person with involuntary movements had classical findings of idiopathic dystonia musculorum deformans. At least 3 deceased members had been diagnosed as having Huntington disease. Others had isolated dystonic features, particularly torticollis and spastic dysphonia. The kindred contained a brother and sister with Wilson disease (277900). The occurrence of Wilson disease in the same kindred may have been coincidental. Ahmad et al. (1993) provided a follow-up of the family reported by Parker (1985), which then contained affected members in 5 generations. The onset of symptoms ranged from 13 to 37 years.
Wilcox et al. (2011) provided another follow-up of the family reported by Parker (1985). Affected family members tended to have a thin face and body habitus, even before the development of any speech or swallowing problems. Soon after the onset of spasmodic dysphonia, the cheeks became hollowed, the lower face tapered to the chin, the tongue became bradykinetic and showed poor motor patterning, and the mouth was open. All patients had laryngeal adductor dysphonia, which was responsive to alcohol. Several patients developed generalized dystonia or an unusual 'hobby horse gait,' with toe walking, stiff legs, and skipping gait. Brain MRI was unremarkable.
Inheritance
The pedigree pattern of the Australian family with dystonia reported by Parker (1985) was consistent with autosomal dominant inheritance. Ahmad et al. (1993) noted that no male-to-male transmission had occurred in the family. Among patients' offspring over the age of 40 years, the ratio of affected to unaffected subjects was 21:31 (40.4% affected). Nine of 22 affected members were male. Only 2 of the males had children: 2 sons and 4 daughters, of whom only 1 daughter was affected.
Mapping
By linkage analysis of the large family with DYT4 originally reported by Parker (1985), Hersheson et al. (2013) found linkage to chromosome 19p13.12 between rs12977803 and rs2303099 (maximum multipoint lod score of 6.33).
Molecular Genetics
In members of the large multigenerational family of English and Australian origin with dystonia and Wilson disease originally reported by Parker (1985), Wilcox et al. (2011) identified mutations in the ATP7B gene (606882), thus explaining the Wilson disease phenotype in the family. The ATP7B mutations did not segregate with the dystonia phenotype, confirming 2 genetic disorders in the family.
In affected members of the family with dystonia originally reported by Parker (1985), Hersheson et al. (2013) identified a heterozygous mutation in the TUBB4A gene (R2G; 602662.0001). The mutation, which was found by linkage analysis and exome sequencing, was not found in several large control databases and segregated with dystonia in the family. Previous site-directed mutagenesis studies by Yen et al. (1988) had shown that mutations in the MREI domain of TUBB4A, including R2G, abrogate the autoregulatory capability of TUBB4A, which may affect the balance of tubulin subunits and interfere with proper assembly. The findings suggested a role for the cytoskeleton in dystonia pathogenesis.
Independently and simultaneously, Lohmann et al. (2013) identified a heterozygous R2G mutation in the TUBB4A gene in affected members of the family with DYT4 originally reported by Parker (1985). The mutation was found by genomewide linkage analysis combined with genome sequencing in 2 family members. The mutation was confirmed by Sanger sequencing, segregated with the disorder in the family, and was not present in 1,000 control chromosomes or in the Exome Variant Server database. Primary cells from 1 of the mutation carriers showed decreased levels of mutant TUBB4A mRNA compared to controls, suggesting that the pathogenesis involved reduced levels of TUBB4. Screening of the TUBB4A gene in 394 unrelated patients with dystonia revealed a different heterozygous missense variant (A271T; 602662.0003) in a woman with onset of spasmodic dysphonia at age 60 years; functional studies of this variant were not performed.
History
Ahmad et al. (1993) performed linkage studies in the large Australian pedigree originally reported by Parker (1985) and excluded location of the responsible locus (here symbolized DYT4) on 9q (see DYT1, 128100). Investigation for linkage using markers flanking the Wilson disease locus likewise yielded negative results, thus excluding the possibility that the disorder was due to an allele at the WND locus.
In the family with dystonia reported by Parker (1985), Jarman et al. (1999) excluded linkage to selected markers on chromosomes 8 and 18.
INHERITANCE \- Autosomal dominant GROWTH Other \- Thin body habitus HEAD & NECK Face \- Thin face \- Hollowed cheeks Mouth \- Bradykinetic tongue Neck \- Torticollis RESPIRATORY Larynx \- Laryngeal adductor spasmodic dysphonia ABDOMEN Gastrointestinal \- Dysphagia NEUROLOGIC Central Nervous System \- Torsion dystonia \- Dysphonia \- Generalized dystonia \- Limb dystonia \- Abnormal 'hobby horse' ataxic gait VOICE \- Whispering dysphonia MISCELLANEOUS \- Onset between 13 to 37 years \- Favorable response to alcohol \- One large family has been reported (last curated June 2013) MOLECULAR BASIS \- Caused by mutation in the tubulin, beta-4A gene (TUBB4A, 602662.0001 ) ▲ 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
|
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
|
c1860315
| 24,984 |
omim
|
https://www.omim.org/entry/128101
| 2019-09-22T16:42:02 |
{"doid": ["0090041"], "mesh": ["C536698"], "omim": ["128101"], "orphanet": ["98805"], "synonyms": ["Alternative titles", "WHISPERING DYSPHONIA, HEREDITARY", "DYSTONIA MUSCULORUM DEFORMANS 4"]}
|
Whether there are families with this condition transmitted as a simple dominant without telangiectasia is not clear. Fink (1940) described what was presumed to be such a family with transmission through 6 generations.
Nose \- Epistaxis Inheritance \- Autosomal dominant ▲ 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
|
EPISTAXIS, HEREDITARY
|
c0339819
| 24,985 |
omim
|
https://www.omim.org/entry/132500
| 2019-09-22T16:41:29 |
{"mesh": ["C562751"], "omim": ["132500"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
Mapping
In a metaanalysis of 2 previously published genomewide association (GWA) studies (Tomlinson et al., 2008; Tenesa et al., 2008) comprising 13,315 individuals, Houlston et al. (2008) found an association between susceptibility to colorectal cancer and rs4444235 on chromosome 14q22.2 within the BMP4 gene (112262) (p = 1.8 x 10(-6)). Pooling data from 4 independent case-control series comprising 13,408 individuals with the GWA series yielded a combined p value of 8.1 x 10(-10) for rs4444235.
*[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
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 8
|
c2675483
| 24,986 |
omim
|
https://www.omim.org/entry/612589
| 2019-09-22T16:01:02 |
{"omim": ["612589"], "synonyms": ["Alternative titles", "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 14q"]}
|
Life-threatening organ dysfunction triggered by infection
For the fly, see Sepsis (fly).
Sepsis
Other namesSepticemia, blood poisoning
Blood culture bottles: orange cap for anaerobes, green cap for aerobes, and yellow cap for blood samples from children[1]
Pronunciation
* /ˈsɛpsɪs/
SpecialtyInfectious disease
SymptomsFever, increased heart rate, low blood pressure, increased breathing rate, confusion[2]
CausesImmune response triggered by an infection[3][4]
Risk factorsYoung or old age, cancer, diabetes, major trauma, burns[2]
Diagnostic methodSystemic inflammatory response syndrome (SIRS),[3] qSOFA[5]
TreatmentIntravenous fluids, antimicrobials[2][6]
Prognosis10 to 80% risk of death[5][7]
Frequency0.2–3 per 1000 a year (developed world)[7][8]
Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs.[5] This initial stage is followed by suppression of the immune system.[9] Common signs and symptoms include fever, increased heart rate, increased breathing rate, and confusion.[2] There may also be symptoms related to a specific infection, such as a cough with pneumonia, or painful urination with a kidney infection.[3] The very young, old, and people with a weakened immune system may have no symptoms of a specific infection, and the body temperature may be low or normal instead of having a fever.[3] Severe sepsis causes poor organ function or blood flow.[10] The presence of low blood pressure, high blood lactate, or low urine output may suggest poor blood flow.[10] Septic shock is low blood pressure due to sepsis that does not improve after fluid replacement.[10]
Sepsis is an inflammatory immune response triggered by an infection.[3][4] Bacterial infections are the most common cause, but fungal, viral, and protozoan infections can also lead to sepsis.[3] Common locations for the primary infection include the lungs, brain, urinary tract, skin, and abdominal organs.[3] Risk factors include being very young, older age, a weakened immune system from conditions such as cancer or diabetes, major trauma, or burns.[2] Previously, a sepsis diagnosis required the presence of at least two systemic inflammatory response syndrome (SIRS) criteria in the setting of presumed infection.[3] In 2016, a shortened sequential organ failure assessment score (SOFA score), known as the quick SOFA score (qSOFA), replaced the SIRS system of diagnosis.[5] qSOFA criteria for sepsis include at least two of the following three: increased breathing rate, change in the level of consciousness, and low blood pressure.[5] Sepsis guidelines recommend obtaining blood cultures before starting antibiotics; however, the diagnosis does not require the blood to be infected.[3] Medical imaging is helpful when looking for the possible location of the infection.[10] Other potential causes of similar signs and symptoms include anaphylaxis, adrenal insufficiency, low blood volume, heart failure, and pulmonary embolism.[3]
Sepsis requires immediate treatment with intravenous fluids and antimicrobials.[2][6] Ongoing care often continues in an intensive care unit.[2] If an adequate trial of fluid replacement is not enough to maintain blood pressure, then the use of medications that raise blood pressure becomes necessary.[2] Mechanical ventilation and dialysis may be needed to support the function of the lungs and kidneys, respectively.[2] A central venous catheter and an arterial catheter may be placed for access to the bloodstream and to guide treatment.[10] Other helpful measurements include cardiac output and superior vena cava oxygen saturation.[10] People with sepsis need preventive measures for deep vein thrombosis, stress ulcers, and pressure ulcers unless other conditions prevent such interventions.[10] Some people might benefit from tight control of blood sugar levels with insulin.[10] The use of corticosteroids is controversial, with some reviews finding benefit,[11][12] and others not.[13]
Disease severity partly determines the outcome.[7] The risk of death from sepsis is as high as 30%, while for severe sepsis it is as high as 50%, and septic shock 80%.[7] Sepsis affected about 49 million people in 2017, with 11 million deaths (1 in 5 deaths worldwide).[14] In the developed world, approximately 0.2 to 3 people per 1000 are affected by sepsis yearly, resulting in about a million cases per year in the United States.[7][8] Rates of disease have been increasing.[10] Sepsis is more common among males than females.[3] Descriptions of sepsis date back to the time of Hippocrates.[15] The terms "septicemia" and "blood poisoning" have been used in various ways and are no longer recommended.[15][16]
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Video summary (script)
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Definitions
* 3.2 End-organ dysfunction
* 3.3 Biomarkers
* 3.4 Differential diagnosis
* 3.5 Neonatal sepsis
* 4 Pathophysiology
* 4.1 Microbial factors
* 4.2 Host factors
* 5 Management
* 5.1 Antibiotics
* 5.2 Intravenous fluids
* 5.3 Blood products
* 5.4 Vasopressors
* 5.5 Steroids
* 5.6 Anesthesia
* 5.7 Source control
* 5.8 Early goal directed therapy
* 5.9 Newborns
* 5.10 Other
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 Society and culture
* 9.1 Economics
* 9.2 Education
* 10 Research
* 11 References
* 12 External links
## Signs and symptoms[edit]
In addition to symptoms related to the actual cause, people with sepsis may have a fever, low body temperature, rapid breathing, a fast heart rate, confusion, and edema.[17] Early signs include a rapid heart rate, decreased urination, and high blood sugar. Signs of established sepsis include confusion, metabolic acidosis (which may be accompanied by a faster breathing rate that leads to respiratory alkalosis), low blood pressure due to decreased systemic vascular resistance, higher cardiac output, and disorders in blood-clotting that may lead to organ failure.[18] Fever is the most common presenting symptom in sepsis, but fever may be absent in some people such as the elderly or those who are immunocompromised.[19]
The drop in blood pressure seen in sepsis can cause lightheadedness and is part of the criteria for septic shock.[20]
## Cause[edit]
Infections leading to sepsis are usually bacterial but may be fungal or viral.[21] Gram-positive bacteria were the primary cause of sepsis before the introduction of antibiotics in the 1950s. After the introduction of antibiotics, gram-negative bacteria became the predominant cause of sepsis from the 1960s to the 1980s.[22] After the 1980s, gram-positive bacteria, most commonly staphylococci, are thought to cause more than 50% of cases of sepsis.[8][23] Other commonly implicated bacteria include Streptococcus pyogenes, Escherichia coli, Pseudomonas aeruginosa, and Klebsiella species.[24] Fungal sepsis accounts for approximately 5% of severe sepsis and septic shock cases; the most common cause of fungal sepsis is an infection by Candida species of yeast,[25] a frequent hospital-acquired infection.
The most common sites of infection resulting in severe sepsis are the lungs, the abdomen, and the urinary tract.[21] Typically, 50% of all sepsis cases start as an infection in the lungs. In one third to one-half of cases, the source of infection is unclear.[21]
## Diagnosis[edit]
Early diagnosis is necessary to properly manage sepsis, as the initiation of rapid therapy is key to reducing deaths from severe sepsis.[10] Some hospitals use alerts generated from electronic health records to bring attention to potential cases as early as possible.[26]
Within the first three hours of suspected sepsis, diagnostic studies should include white blood cell counts, measuring serum lactate, and obtaining appropriate cultures before starting antibiotics, so long as this does not delay their use by more than 45 minutes.[10] To identify the causative organism(s), at least two sets of blood cultures using bottles with media for aerobic and anaerobic organisms are necessary. At least one should be drawn through the skin and one through each vascular access device (such as an IV catheter) that has been in place more than 48 hours.[10] Bacteria are present in the blood in only about 30% of cases.[27] Another possible method of detection is by polymerase chain reaction. If other sources of infection are suspected, cultures of these sources, such as urine, cerebrospinal fluid, wounds, or respiratory secretions, also should be obtained, as long as this does not delay the use of antibiotics.[10]
Within six hours, if blood pressure remains low despite initial fluid resuscitation of 30 ml/kg, or if initial lactate is ≥ four mmol/l (36 mg/dl), central venous pressure and central venous oxygen saturation should be measured.[10] Lactate should be re-measured if the initial lactate was elevated.[10] Evidence for point of care lactate measurement over usual methods of measurement, however, is poor.[28]
Within twelve hours, it is essential to diagnose or exclude any source of infection that would require emergent source control, such as a necrotizing soft tissue infection, an infection causing inflammation of the abdominal cavity lining, an infection of the bile duct, or an intestinal infarction.[10] A pierced internal organ (free air on an abdominal x-ray or CT scan), an abnormal chest x-ray consistent with pneumonia (with focal opacification), or petechiae, purpura, or purpura fulminans may indicate the presence of an infection.
### Definitions[edit]
Systemic inflammatory response syndrome[29] Finding Value
Temperature <36 °C (96.8 °F) or >38 °C (100.4 °F)
Heart rate >90/min
Respiratory rate >20/min or PaCO2<32 mmHg (4.3 kPa)
WBC <4x109/L (<4000/mm³), >12x109/L (>12,000/mm³), or ≥10% bands
Sepsis Steps. Training tool for teaching the progression of sepsis stages
Previously, SIRS criteria had been used to define sepsis. If the SIRS criteria are negative, it is very unlikely the person has sepsis; if it is positive, there is just a moderate probability that the person has sepsis. According to SIRS, there were different levels of sepsis: sepsis, severe sepsis, and septic shock.[16] The definition of SIRS is shown below:
* SIRS is the presence of two or more of the following: abnormal body temperature, heart rate, respiratory rate, or blood gas, and white blood cell count.
* Sepsis is defined as SIRS in response to an infectious process.[30]
* Severe sepsis is defined as sepsis with sepsis-induced organ dysfunction or tissue hypoperfusion (manifesting as hypotension, elevated lactate, or decreased urine output). Severe sepsis is an infectious disease state associated with multiple organ dysfunction syndrome (MODS)[10]
* Septic shock is severe sepsis plus persistently low blood pressure, despite the administration of intravenous fluids.[10]
In 2016 a new consensus was reached to replace screening by systemic inflammatory response syndrome (SIRS) with the sequential organ failure assessment (SOFA score) and the abbreviated version (qSOFA).[5] The three criteria for the qSOFA score include a respiratory rate greater than or equal to 22 breaths per minute, systolic blood pressure 100 mmHg or less and altered mental status.[5] Sepsis is suspected when 2 of the qSOFA criteria are met.[5] The SOFA score was intended to be used in the intensive care unit (ICU) where it is administered upon admission to the ICU and then repeated every 48 hours, whereas the qSOFA could be used outside the ICU.[19] Some advantages of the qSOFA score are that it can be administered quickly and does not require labs.[19] However, the American College of Chest Physicians (CHEST) raised concerns that qSOFA and SOFA criteria may lead to delayed diagnosis of serious infection, leading to delayed treatment.[31] Although SIRS criteria can be too sensitive and not specific enough in identifying sepsis, SOFA also has its limitations and is not intended to replace the SIRS definition.[32] qSOFA has also been found to be poorly sensitive though decently specific for the risk of death with SIRS possibly better for screening.[33]
### End-organ dysfunction[edit]
Main article: Multiple organ dysfunction syndrome
Examples of end-organ dysfunction include the following:[34]
* Lungs: acute respiratory distress syndrome (ARDS) (PaO2/FiO2 ratio< 300), different ratio in pediatric acute respiratory distress syndrome
* Brain: encephalopathy symptoms including agitation, confusion, coma; causes may include ischemia, bleeding, formation of blood clots in small blood vessels, microabscesses, multifocal necrotizing leukoencephalopathy
* Liver: disruption of protein synthetic function manifests acutely as progressive disruption of blood clotting due to an inability to synthesize clotting factors and disruption of metabolic functions leads to impaired bilirubin metabolism, resulting in elevated unconjugated serum bilirubin levels
* Kidney: low urine output or no urine output, electrolyte abnormalities, or volume overload
* Heart: systolic and diastolic heart failure, likely due to chemical signals that depress myocyte function, cellular damage, manifest as a troponin leak (although not necessarily ischemic in nature)
More specific definitions of end-organ dysfunction exist for SIRS in pediatrics.[35]
* Cardiovascular dysfunction (after fluid resuscitation with at least 40 ml/kg of crystalloid)
* hypotension with blood pressure < 5th percentile for age or systolic blood pressure < 2 standard deviations below normal for age, or
* vasopressor requirement, or
* two of the following criteria:
* unexplained metabolic acidosis with base deficit > 5 mEq/l
* lactic acidosis: serum lactate 2 times the upper limit of normal
* oliguria (urine output < 0.5 ml/kg/h)
* prolonged capillary refill > 5 seconds
* core to peripheral temperature difference > 3 °C
* Respiratory dysfunction (in the absence of a cyanotic heart defect or a known chronic respiratory disease)
* the ratio of the arterial partial-pressure of oxygen to the fraction of oxygen in the gases inspired (PaO2/FiO2) < 300 (the definition of acute lung injury), or
* arterial partial-pressure of carbon dioxide (PaCO2) > 65 torr (20 mmHg) over baseline PaCO2 (evidence of hypercapnic respiratory failure), or
* supplemental oxygen requirement of greater than FiO2 0.5 to maintain oxygen saturation ≥ 92%
* Neurologic dysfunction
* Glasgow Coma Score (GCS) ≤ 11, or
* altered mental status with drop in GCS of 3 or more points in a person with developmental delay/intellectual disability
* Hematologic dysfunction
* platelet count < 80,000/mm3 or 50% drop from maximum in chronically thrombocytopenic, or
* international normalized ratio (INR) > 2
* Disseminated intravascular coagulation
* Kidney dysfunction
* serum creatinine ≥ 2 times the upper limit of normal for age or 2-fold increase in baseline creatinine in people with chronic kidney disease
* Liver dysfunction (only applicable to infants > 1 month)
* total serum bilirubin ≥ 4 mg/dl, or
* alanine aminotransferase (ALT) ≥ 2 times the upper limit of normal
Consensus definitions, however, continue to evolve, with the latest expanding the list of signs and symptoms of sepsis to reflect clinical bedside experience.[17]
### Biomarkers[edit]
A 2013 review concluded moderate-quality evidence exists to support the use of the procalcitonin level as a method to distinguish sepsis from non-infectious causes of SIRS.[27] The same review found the sensitivity of the test to be 77% and the specificity to be 79%. The authors suggested that procalcitonin may serve as a helpful diagnostic marker for sepsis, but cautioned that its level alone does not definitively make the diagnosis.[27] A 2012 systematic review found that soluble urokinase-type plasminogen activator receptor (SuPAR) is a nonspecific marker of inflammation and does not accurately diagnose sepsis.[36] This same review concluded, however, that SuPAR has prognostic value, as higher SuPAR levels are associated with an increased rate of death in those with sepsis.[36] Serial measurement of lactate levels (approximately every 4 to 6 hours) may guide treatment and is associated with lower mortality in sepsis.[19]
### Differential diagnosis[edit]
The differential diagnosis for sepsis is broad and has to examine (to exclude) the non-infectious conditions that may cause the systemic signs of SIRS: alcohol withdrawal, acute pancreatitis, burns, pulmonary embolism, thyrotoxicosis, anaphylaxis, adrenal insufficiency, and neurogenic shock.[18][37] Hyperinflammatory syndromes such as hemophagocytic lymphohistiocytosis (HLH) may have similar symptoms and are on the differential diagnosis.[38]
### Neonatal sepsis[edit]
In common clinical usage, neonatal sepsis refers to a bacterial blood stream infection in the first month of life, such as meningitis, pneumonia, pyelonephritis, or gastroenteritis,[39] but neonatal sepsis also may be due to infection with fungi, viruses, or parasites.[39] Criteria with regard to hemodynamic compromise or respiratory failure are not useful because they present too late for intervention.
## Pathophysiology[edit]
This section needs expansion with: Viral sepsis. You can help by adding to it. (March 2020)
Sepsis is caused by a combination of factors related to the particular invading pathogen(s) and to the status of the immune system of the host.[40] The early phase of sepsis characterized by excessive inflammation (sometimes resulting in a cytokine storm) may be followed by a prolonged period of decreased functioning of the immune system.[41][9] Either of these phases may prove fatal. On the other hand, systemic inflammatory response syndrome (SIRS) occurs in people without the presence of infection, for example, in those with burns, polytrauma, or the initial state in pancreatitis and chemical pneumonitis. However, sepsis also causes similar response to SIRS.[16]
### Microbial factors[edit]
Bacterial virulence factors, such as glycocalyx and various adhesins, allow colonization, immune evasion, and establishment of disease in the host.[40] Sepsis caused by gram-negative bacteria is thought to be largely due to a response by the host to the lipid A component of lipopolysaccharide, also called endotoxin.[42][43] Sepsis caused by gram-positive bacteria may result from an immunological response to cell wall lipoteichoic acid.[44] Bacterial exotoxins that act as superantigens also may cause sepsis.[40] Superantigens simultaneously bind major histocompatibility complex and T-cell receptors in the absence of antigen presentation. This forced receptor interaction induces the production of pro-inflammatory chemical signals (cytokines) by T-cells.[40]
There are a number of microbial factors that may cause the typical septic inflammatory cascade. An invading pathogen is recognized by its pathogen-associated molecular patterns (PAMPs). Examples of PAMPs include lipopolysaccharides and flagellin in gram-negative bacteria, muramyl dipeptide in the peptidoglycan of the gram-positive bacterial cell wall, and CpG bacterial DNA. These PAMPs are recognized by the pattern recognition receptors (PRRs) of the innate immune system, which may be membrane-bound or cytosolic.[45] There are four families of PRRs: the toll-like receptors, the C-type lectin receptors, the NOD-like receptors, and the RIG-I-like receptors. Invariably, the association of a PAMP and a PRR will cause a series of intracellular signalling cascades. Consequentially, transcription factors such as nuclear factor-kappa B and activator protein-1, will up-regulate the expression of pro-inflammatory and anti-inflammatory cytokines.[46]
### Host factors[edit]
Upon detection of microbial antigens, the host systemic immune system is activated. Immune cells not only recognise pathogen-associated molecular patterns but also damage-associated molecular patterns from damaged tissues. An uncontrolled immune response is then activated because leukocytes are not recruited to the specific site of infection, but instead they are recruited all over the body. Then, an immunosuppression state ensues when the proinflammatory T helper cell 1 (TH1) is shifted to TH2,[47] mediated by interleukin 10, which is known as "compensatory anti-inflammatory response syndrome".[22] The apoptosis (cell death) of lymphocytes further worsens the immunosuppression. Neutrophils, monocytes, macrophages, dendritic cells, CD4+ T cells, and B cells all undergo apoptosis, whereas regulatory T cells are more apoptosis resistant.[9] Subsequently, multiple organ failure ensues because tissues are unable to use oxygen efficiently due to inhibition of cytochrome c oxidase.[47]
Inflammatory responses cause multiple organ dysfunction syndrome through various mechanisms as described below. Increased permeability of the lung vessels causes leaking of fluids into alveoli, which results in pulmonary edema and acute respiratory distress syndrome (ARDS). Impaired utilization of oxygen in the liver impairs bile salt transport, causing jaundice (yellowish discoloration of skin). In kidneys, inadequate oxygenation results in tubular epithelial cell injury (of the cells lining the kidney tubules), and thus causes acute kidney injury (AKI). Meanwhile, in the heart, impaired calcium transport, and low production of adenosine triphosphate (ATP), can cause myocardial depression, reducing cardiac contractility and causing heart failure. In the gastrointestinal tract, increased permeability of the mucosa alters the microflora, causing mucosal bleeding and paralytic ileus. In the central nervous system, direct damage of the brain cells and disturbances of neurotransmissions causes altered mental status.[48] Cytokines such as tumor necrosis factor, interleukin 1, and interleukin 6 may activate procoagulation factors in the cells lining blood vessels, leading to endothelial damage. The damaged endothelial surface inhibits anticoagulant properties as well as increases antifibrinolysis, which may lead to intravascular clotting, the formation of blood clots in small blood vessels, and multiple organ failure.[49]
The low blood pressure seen in those with sepsis is the result of various processes, including excessive production of chemicals that dilate blood vessels such as nitric oxide, a deficiency of chemicals that constrict blood vessels such as vasopressin, and activation of ATP-sensitive potassium channels.[50] In those with severe sepsis and septic shock, this sequence of events leads to a type of circulatory shock known as distributive shock.[51]
## Management[edit]
Intravenous fluids being given
Early recognition and focused management may improve the outcomes in sepsis. Current professional recommendations include a number of actions ("bundles") to be followed as soon as possible after diagnosis. Within the first three hours, someone with sepsis should have received antibiotics and, intravenous fluids if there is evidence of either low blood pressure or other evidence for inadequate blood supply to organs (as evidenced by a raised level of lactate); blood cultures also should be obtained within this time period. After six hours the blood pressure should be adequate, close monitoring of blood pressure and blood supply to organs should be in place, and the lactate should be measured again if initially it was raised.[10] A related bundle, the "Sepsis Six", is in widespread use in the United Kingdom; this requires the administration of antibiotics within an hour of recognition, blood cultures, lactate and hemoglobin determination, urine output monitoring, high-flow oxygen, and intravenous fluids.[52][53]
Apart from the timely administration of fluids and antibiotics, the management of sepsis also involves surgical drainage of infected fluid collections and appropriate support for organ dysfunction. This may include hemodialysis in kidney failure, mechanical ventilation in lung dysfunction, transfusion of blood products, and drug and fluid therapy for circulatory failure. Ensuring adequate nutrition—preferably by enteral feeding, but if necessary, by parenteral nutrition—is important during prolonged illness.[10] Medication to prevent deep vein thrombosis and gastric ulcers also may be used.[10]
### Antibiotics[edit]
Two sets of blood cultures (aerobic and anaerobic) are recommended without delaying the initiation of antibiotics. Cultures from other sites such as respiratory secretions, urine, wounds, cerebrospinal fluid, and catheter insertion sites (in-situ more than 48 hours) are recommended if infections from these sites are suspected.[6] In severe sepsis and septic shock, broad-spectrum antibiotics (usually two, a β-lactam antibiotic with broad coverage, or broad-spectrum carbapenem combined with fluoroquinolones, macrolides, or aminoglycosides) are recommended. The choice of antibiotics is important in determining the survival of the person.[51][6] Some recommend they be given within one hour of making the diagnosis, stating that for every hour of delay in the administration of antibiotics, there is an associated 6% rise in mortality.[30][51] Others did not find a benefit with early administration.[54]
Several factors determine the most appropriate choice for the initial antibiotic regimen. These factors include local patterns of bacterial sensitivity to antibiotics, whether the infection is thought to be a hospital or community-acquired infection, and which organ systems are thought to be infected.[51][19] Antibiotic regimens should be reassessed daily and narrowed if appropriate. Treatment duration is typically 7–10 days with the type of antibiotic used directed by the results of cultures. If the culture result is negative, antibiotics should be de-escalated according to person's clinical response or stopped altogether if infection is not present to decrease the chances that the person is infected with multiple drug resistance organisms. In case of people having high risk of being infected with multiple drug resistance organisms such as Pseudomonas aeruginosa, Acinetobacter baumannii, addition of antibiotic specific to gram-negative organism is recommended. For Methicillin-resistant Staphylococcus aureus (MRSA), vancomycin or teicoplanin is recommended. For Legionella infection, addition of macrolide or fluoroquinolone is chosen. If fungal infection is suspected, an echinocandin, such as caspofungin or micafungin, is chosen for people with severe sepsis, followed by triazole (fluconazole and itraconazole) for less ill people.[6] Prolonged antibiotic prophylaxis is not recommended in people who has SIRS without any infectious origin such as acute pancreatitis and burns unless sepsis is suspected.[6]
Once daily dosing of aminoglycoside is sufficient to achieve peak plasma concentration for clinical response without kidney toxicity. Meanwhile, for antibiotics with low volume distribution (vancomycin, teicoplanin, colistin), loading dose is required to achieve adequate therapeutic level to fight infections. Frequent infusions of beta-lactam antibiotics without exceeding total daily dose would help to keep the antibiotics level above minimum inhibitory concentration (MIC), thus providing better clinical response.[6] Giving beta-lactam antibiotics continuously may be better than giving them intermittently.[55] Access to therapeutic drug monitoring is important to ensure adequate drug therapeutic level while at the same time preventing the drug from reaching toxic level.[6]
### Intravenous fluids[edit]
The Surviving Sepsis Campaign has recommended 30 ml/kg of fluid to be given in adults in the first three hours followed by fluid titration according to blood pressure, urine output, respiratory rate, and oxygen saturation with a target mean arterial pressure (MAP) of 65 mmHg.[6] In children an initial amount of 20 ml/kg is reasonable in shock.[56] In cases of severe sepsis and septic shock where a central venous catheter is used to measure blood pressures dynamically, fluids should be administered until the central venous pressure reaches 8–12 mmHg.[50] Once these goals are met, the central venous oxygen saturation (ScvO2), i.e., the oxygen saturation of venous blood as it returns to the heart as measured at the vena cava, is optimized.[6] If the ScvO2 is less than 70%, blood may be given to reach a hemoglobin of 10 g/dL and then inotropes are added until the ScvO2 is optimized.[40] In those with acute respiratory distress syndrome (ARDS) and sufficient tissue blood fluid, more fluids should be given carefully.[10]
Crystalloid solution is recommended as the fluid of choice for resuscitation.[6] Albumin can be used if a large amount of crystalloid is required for resuscitation.[6] Crystalloid solutions shows little difference with hydroxyethyl starch in terms of risk of death.[57] Starches also carry an increased risk of acute kidney injury,[57][58] and need for blood transfusion.[59][60] Various colloid solutions (such as modified gelatin) carry no advantage over crystalloid.[57] Albumin also appears to be of no benefit over crystalloids.[61]
### Blood products[edit]
The Surviving Sepsis Campaign recommended packed red blood cells transfusion for hemoglobin levels below 70 g/L if there is no myocardial ischemia, hypoxemia, or acute bleeding.[6] In a 2014 trial, blood transfusions to keep target hemoglobin above 70 or 90 g/L did not make any difference to survival rates; meanwhile, those with a lower threshold of transfusion received fewer transfusions in total.[62] Erythropoietin is not recommended in the treatment of anemia with septic shock because it may precipitate blood clotting events. Fresh frozen plasma transfusion usually does not correct the underlying clotting abnormalities before a planned surgical procedure. However, platelet transfusion is suggested for platelet counts below (10 × 109/L) without any risk of bleeding, or (20 × 109/L) with high risk of bleeding, or (50 × 109/L) with active bleeding, before a planned surgery or an invasive procedure.[6] IV immunoglobulin is not recommended because its beneficial effects are uncertain.[6] Monoclonal and polyclonal preparations of intravenous immunoglobulin (IVIG) do not lower the rate of death in newborns and adults with sepsis.[63] Evidence for the use of IgM-enriched polyclonal preparations of IVIG is inconsistent.[63] On the other hand, the use of antithrombin to treat disseminated intravascular coagulation is also not useful. Meanwhile, the blood purification technique (such as hemoperfusion, plasma filtration, and coupled plasma filtration adsorption) to remove inflammatory mediators and bacterial toxins from the blood also does not demonstrate any survival benefit for septic shock.[6]
### Vasopressors[edit]
If the person has been sufficiently fluid resuscitated but the mean arterial pressure is not greater than 65 mmHg, vasopressors are recommended.[6] Norepinephrine (noradrenaline) is recommended as the initial choice.[6] Delaying initiation of vasopressor therapy during septic shock is associated with increased mortality.[64]
Norepinephrine is often used as a first-line treatment for hypotensive septic shock because evidence shows that there is a relative deficiency of vasopressin, when shock continues for 24 to 48 hours.[65] Norepinephrine raises blood pressure through a vasoconstriction effect, with little effect on stroke volume and heart rate.[6] In some people, the required dose of vasopressor needed to increase the mean arterial pressure can become exceedingly high that it becomes toxic.[66] In order to reduce the required dose of vasopressor, epinephrine may be added.[66] Epinephrine is not often used as a first-line treatment for hypotensive shock because it reduces blood flow to the abdominal organs and increases lactate levels.[65] Vasopressin can be used in septic shock because studies have shown that there is a relative deficiency of vasopressin when shock continues for 24 to 48 hours. However, vasopressin reduces blood flow to the heart, finger/toes, and abdominal organs, resulting in a lack of oxygen supply to these tissues.[6] Dopamine is typically not recommended. Although dopamine is useful to increase the stroke volume of the heart, it causes more abnormal heart rhythms than norepinephrine and also has an immunosuppressive effect. Dopamine is not proven to have protective properties on the kidneys.[6] Dobutamine can also be used in hypotensive septic shock to increase cardiac output and correct blood flow to the tissues.[67] Dobutamine is not used as often as epinephrine due to its associate side effects, which include reducing blood flow to the gut.[67] Additionally, dobutamine increases the cardiac output by abnormally increasing the heart rate.[67]
### Steroids[edit]
The use of steroids in sepsis is controversial.[68] Studies do not give a clear picture as to whether and when glucocorticoids should be used.[69] The 2016 Surviving Sepsis Campaign recommends low dose hydrocortisone only if both intravenous fluids and vasopressors are not able to adequately treat septic shock.[6] A 2019 Cochrane review found low-quality evidence of benefit,[11] as did two 2019 reviews.[12][70]
During critical illness, a state of adrenal insufficiency and tissue resistance to corticosteroids may occur. This has been termed critical illness–related corticosteroid insufficiency.[71] Treatment with corticosteroids might be most beneficial in those with septic shock and early severe ARDS, whereas its role in others such as those with pancreatitis or severe pneumonia is unclear.[71] However, the exact way of determining corticosteroid insufficiency remains problematic. It should be suspected in those poorly responding to resuscitation with fluids and vasopressors. Neither ACTH stimulation testing[71] nor random cortisol levels are recommended to confirm the diagnosis.[6] The method of stopping glucocorticoid drugs is variable, and it is unclear whether they should be slowly decreased or simply abruptly stopped. However, the 2016 Surviving Sepsis Campaign recommended to taper steroids when vasopressors are no longer needed.[6]
### Anesthesia[edit]
A target tidal volume of 6 mL/kg of predicted body weight (PBW) and a plateau pressure less than 30 cm H2O is recommended for those who require ventilation due to sepsis-induced severe ARDS. High positive end expiratory pressure (PEEP) is recommended for moderate to severe ARDS in sepsis as it opens more lung units for oxygen exchange. Predicted body weight is calculated based on sex and height, and tools for this are available.[72] Recruitment maneuvers may be necessary for severe ARDS by briefly raising the transpulmonary pressure. It is recommended that the head of the bed be raised if possible to improve ventilation. However, β2 adrenergic receptor agonists are not recommended to treat ARDS because it may reduce survival rates and precipitate abnormal heart rhythms. A spontaneous breathing trial using continuous positive airway pressure (CPAP), T piece, or inspiratory pressure augmentation can be helpful in reducing the duration of ventilation. Minimizing intermittent or continuous sedation is helpful in reducing the duration of mechanical ventilation.[6]
General anesthesia is recommended for people with sepsis who require surgical procedures to remove the infective source. Usually, inhalational and intravenous anesthetics are used. Requirements for anesthetics may be reduced in sepsis. Inhalational anesthetics can reduce the level of proinflammatory cytokines, altering leukocyte adhesion and proliferation, inducing apoptosis (cell death) of the lymphocytes, possibly with a toxic effect on mitochondrial function.[47] Although etomidate has a minimal effect on the cardiovascular system, it is often not recommended as a medication to help with intubation in this situation due to concerns it may lead to poor adrenal function and an increased risk of death.[73][74] The small amount of evidence there is, however, has not found a change in the risk of death with etomidate.[75]
Paralytic agents are not suggested for use in sepsis cases in the absence of ARDS, as a growing body of evidence points to reduced durations of mechanical ventilation, ICU and hospital stays.[10] However, paralytic use in ARDS cases remains controversial. When appropriately used, paralytics may aid successful mechanical ventilation, however evidence has also suggested that mechanical ventilation in severe sepsis does not improve oxygen consumption and delivery.[10]
### Source control[edit]
Source control refers to physical interventions to control a focus of infection and reduce conditions favorable to microorganism growth or host defense impairment, such as drainage of pus from an abscess. It is one of the oldest procedures for control of infections, giving rise to the Latin phrase Ubi pus, ibi evacua, and remains important despite the emergence of more modern treatments.[76][77]
### Early goal directed therapy[edit]
Early goal directed therapy (EGDT) is an approach to the management of severe sepsis during the initial 6 hours after diagnosis.[78] It is a step-wise approach, with the physiologic goal of optimizing cardiac preload, afterload, and contractility.[79] It includes giving early antibiotics.[79] EGDT also involves monitoring of hemodynamic parameters and specific interventions to achieve key resuscitation targets which include maintaining a central venous pressure between 8–12 mmHg, a mean arterial pressure of between 65 and 90 mmHg, a central venous oxygen saturation (ScvO2) greater than 70% and a urine output of greater than 0.5 ml/kg/hour. The goal is to optimize oxygen delivery to tissues and achieve a balance between systemic oxygen delivery and demand.[79] An appropriate decrease in serum lactate may be equivalent to ScvO2 and easier to obtain.[80]
In the original trial, early goal directed therapy was found to reduce mortality from 46.5% to 30.5% in those with sepsis,[79] and the Surviving Sepsis Campaign has been recommending its use.[10] However, three more recent large randomized control trials (ProCESS, ARISE, and ProMISe), did not demonstrate a 90-day mortality benefit of early goal directed therapy when compared to standard therapy in severe sepsis.[81] It is likely that some parts of EGDT are more important than others.[81] Following these trials the use of EGDT is still considered reasonable.[82]
### Newborns[edit]
Neonatal sepsis can be difficult to diagnose as newborns may be asymptomatic.[83] If a newborn shows signs and symptoms suggestive of sepsis, antibiotics are immediately started and are either changed to target a specific organism identified by diagnostic testing or discontinued after an infectious cause for the symptoms has been ruled out.[84] Despite early intervention, death occurs in 13% of children who develop septic shock, with the risk partly based on other health problems. Those without multiple organ system failure or who require only one inotropic agent mortality is low.[85]
### Other[edit]
Treating fever in sepsis, including people in septic shock, has not been associated with any improvement in mortality over a period of 28 days.[86] Treatment of fever still occurs for other reasons.[87][88]
A 2012 Cochrane review concluded that N-acetylcysteine does not reduce mortality in those with SIRS or sepsis and may even be harmful.[89]
Recombinant activated protein C (drotrecogin alpha) was originally introduced for severe sepsis (as identified by a high APACHE II score), where it was thought to confer a survival benefit.[78] However, subsequent studies showed that it increased adverse events—bleeding risk in particular—and did not decrease mortality.[90] It was removed from sale in 2011.[90] Another medication known as eritoran also has not shown benefit.[91]
In those with high blood sugar levels, insulin to bring it down to 7.8–10 mmol/L (140–180 mg/dL) is recommended with lower levels potentially worsening outcomes.[92] Glucose levels taken from capillary blood should be interpreted with care because such measurements may not be accurate. If a person has an arterial catheter, arterial blood is recommended for blood glucose testing.[6]
Intermittent or continuous renal replacement therapy may be used if indicated. However, sodium bicarbonate is not recommended for a person with lactic acidosis secondary to hypoperfusion. Low-molecular-weight heparin (LMWH), unfractionated heparin (UFH), and mechanical prophylaxis with intermittent pneumatic compression devices are recommended for any person with sepsis at moderate to high risk of venous thromboembolism.[6] Stress ulcer prevention with proton-pump inhibitor (PPI) and H2 antagonist are useful in a person with risk factors of developing upper gastrointestinal bleeding (UGIB) such as on mechanical ventilation for more than 48 hours, coagulation disorders, liver disease, and renal replacement therapy.[6] Achieving partial or full enteral feeding (delivery of nutrients through a feeding tube) is chosen as the best approach to provide nutrition for a person who is contraindicated for oral intake or unable to tolerate orally in the first seven days of sepsis when compared to intravenous nutrition. However, omega-3 fatty acids are not recommended as immune supplements for a person with sepsis or septic shock. The usage of prokinetic agents such as metoclopramide, domperidone, and erythromycin are recommended for those who are septic and unable to tolerate enteral feeding. However, these agents may precipitate prolongation of the QT interval and consequently provoke a ventricular arrhythmia such as torsades de pointes. The usage of prokinetic agents should be reassessed daily and stopped if no longer indicated.[6]
## Prognosis[edit]
Sepsis will prove fatal in approximately 24.4% of people, and septic shock will prove fatal in 34.7% of people within 30 days (32.2% and 38.5% after 90 days).[93] Lactate is a useful method of determining prognosis, with those who have a level greater than 4 mmol/L having a mortality of 40% and those with a level of less than 2 mmol/L having a mortality of less than 15%.[30]
There are a number of prognostic stratification systems, such as APACHE II and Mortality in Emergency Department Sepsis. APACHE II factors in the person's age, underlying condition, and various physiologic variables to yield estimates of the risk of dying of severe sepsis. Of the individual covariates, the severity of underlying disease most strongly influences the risk of death. Septic shock is also a strong predictor of short- and long-term mortality. Case-fatality rates are similar for culture-positive and culture-negative severe sepsis. The Mortality in Emergency Department Sepsis (MEDS) score is simpler, and useful in the emergency department environment.[94]
Some people may experience severe long-term cognitive decline following an episode of severe sepsis, but the absence of baseline neuropsychological data in most people with sepsis makes the incidence of this difficult to quantify or to study.[95]
## Epidemiology[edit]
Sepsis causes millions of deaths globally each year and is the most common cause of death in people who have been hospitalized.[4][78] The number of new cases worldwide of sepsis is estimated to be 18 million cases per year.[96] In the United States sepsis affects approximately 3 in 1,000 people,[30] and severe sepsis contributes to more than 200,000 deaths per year.[97]
Sepsis occurs in 1–2% of all hospitalizations and accounts for as much as 25% of ICU bed utilization. Due to it rarely being reported as a primary diagnosis (often being a complication of cancer or other illness), the incidence, mortality, and morbidity rates of sepsis are likely underestimated.[40] A study of U.S. states found approximately 651 hospital stays per 100,000 population with a sepsis diagnosis in 2010.[98] It is the second-leading cause of death in non-coronary intensive care unit (ICU) and the tenth-most-common cause of death overall (the first being heart disease).[99] Children under 12 months of age and elderly people have the highest incidence of severe sepsis.[40] Among people from the U.S. who had multiple sepsis hospital admissions in 2010, those who were discharged to a skilled nursing facility or long-term care following the initial hospitalization were more likely to be readmitted than those discharged to another form of care.[98] A study of 18 U.S. states found that, amongst people with Medicare in 2011, sepsis was the second most common principal reason for readmission within 30 days.[100]
Several medical conditions increase a person's susceptibility to infection and developing sepsis. Common sepsis risk factors include age (especially the very young and old); conditions that weaken the immune system such as cancer, diabetes, or the absence of a spleen; and major trauma and burns.[2][101][102]
From 1979 to 2000, data from the United States National Hospital Discharge Survey showed that the incidence of sepsis increased fourfold, to 240 cases per 100,000 population, with higher incidence in men when compared to women. During the same time frame, the in-hospital case fatality rate was reduced from 28% to 18%. However, according to the nationwide inpatient sample from the United States, the incidence of severe sepsis increased from 200 per 10,000 population in 2003 to 300 cases in 2007 for population aged more than 18 years. The incidence rate is particularly high among infants, with the incidence of 500 cases per 100,000 population. Mortality related to sepsis increases with age, from less than 10% in the age group of 3 to 5 years to 60% by sixth decade of life.[21] The increase in average age of the population, alongside the presence of more people with chronic diseases or on immunosuppressive medications, and also the increase in the number of invasive procedures being performed, has led to an increased rate of sepsis.[22]
## History[edit]
Personification of septicaemia, carrying a spray can marked "Poison"
The term "σήψις" (sepsis) was introduced by Hippocrates in the fourth century BC, and it meant the process of decay or decomposition of organic matter.[103][104][105] In the eleventh century, Avicenna used the term "blood rot" for diseases linked to severe purulent process. Though severe systemic toxicity had already been observed, it was only in the 19th century that the specific term – sepsis – was used for this condition.
The terms "septicemia", also spelled "septicaemia", and "blood poisoning" referred to the microorganisms or their toxins in the blood. The International Statistical Classification of Diseases and Related Health Problems (ICD) version 9, which was in use in the US until 2013, used the term septicemia with numerous modifiers for different diagnoses, such as "Streptococcal septicemia".[106] All those diagnoses have been converted to sepsis, again with modifiers, in ICD-10, such as "Sepsis due to streptococcus".[106]
The current terms are dependent on the microorganism that is present: bacteremia if bacteria are present in the blood at abnormal levels and are the causative issue, viremia for viruses, and fungemia for a fungus.[107]
By the end of the 19th century, it was widely believed that microbes produced substances that could injure the mammalian host and that soluble toxins released during infection caused the fever and shock that were commonplace during severe infections. Pfeiffer coined the term endotoxin at the beginning of the 20th century to denote the pyrogenic principle associated with Vibrio cholerae. It was soon realised that endotoxins were expressed by most and perhaps all gram-negative bacteria. The lipopolysaccharide character of enteric endotoxins was elucidated in 1944 by Shear.[108] The molecular character of this material was determined by Luderitz et al. in 1973.[109]
It was discovered in 1965 that a strain of C3H/HeJ mice were immune to the endotoxin-induced shock.[110] The genetic locus for this effect was dubbed Lps. These mice were also found to be hypersusceptible to infection by gram-negative bacteria.[111] These observations were finally linked in 1998 by the discovery of the toll-like receptor gene 4 (TLR 4).[112] Genetic mapping work, performed over a period of five years, showed that TLR4 was the sole candidate locus within the Lps critical region; this strongly implied that a mutation within TLR4 must account for the lipopolysaccharide resistance phenotype. The defect in the TLR4 gene that led to the endotoxin resistant phenotype was discovered to be due to a mutation in the cytoplasm.[113]
Controversy occurred in the scientific community over the use of mouse models in research into sepsis in 2013, when scientists published a review of the mouse immune system compared to the human immune system, and showed that on a systems level, the two worked very differently; the authors noted that as of the date of their article over 150 clinical trials of sepsis had been conducted in humans, almost all of them supported by promising data in mice, and that all of them had failed. The authors called for abandoning the use of mouse models in sepsis research; others rejected that but called for more caution in interpreting the results of mouse studies,[114] and more careful design of preclinical studies.[115][116][117][118] One approach is to rely more on studying biopsies and clinical data from people who have had sepsis, to try to identify biomarkers and drug targets for intervention.[119]
## Society and culture[edit]
### Economics[edit]
Sepsis was the most expensive condition treated in United States' hospital stays in 2013, at an aggregate cost of $23.6 billion for nearly 1.3 million hospitalizations.[120] Costs for sepsis hospital stays more than quadrupled since 1997 with an 11.5 percent annual increase.[121] By payer, it was the most costly condition billed to Medicare and the uninsured, the second-most costly billed to Medicaid, and the fourth-most costly billed to private insurance.[120]
### Education[edit]
A large international collaboration entitled the "Surviving Sepsis Campaign" was established in 2002[122] to educate people about sepsis and to improve outcomes with sepsis. The Campaign has published an evidence-based review of management strategies for severe sepsis, with the aim to publish a complete set of guidelines in subsequent years.[78]
Sepsis Alliance is a charitable organization that was created to raise sepsis awareness among both the general public and healthcare professionals.[123]
## Research[edit]
Phenotypic strategy switches of microbes capable of provoking sepsis
Some authors suggest that initiating sepsis by the normally mutualistic (or neutral) members of the microbiome may not always be an accidental side effect of the deteriorating host immune system. Rather it is often an adaptive microbial response to a sudden decline of host survival chances. Under this scenario, the microbe species provoking sepsis benefit from monopolizing the future cadaver, utilizing its biomass as decomposers, and then transmitting through soil or water to establish mutualistic relations with new individuals. The bacteria Streptococcus pneumoniae, Escherichia coli, Proteus spp., Pseudomonas aeruginosa, Staphylococcus aureus, Klebsiella spp., Clostridium spp., Lactobacillus spp., Bacteroides spp. and the fungi Candida spp. are all capable of such a high level of phenotypic plasticity. Evidently, not all cases of sepsis arise through such adaptive microbial strategy switches.[124]
## References[edit]
1. ^ "Blood Culture Collection" (PDF). WVUH Laboratories. 7 April 2012. Retrieved 23 March 2020.
2. ^ a b c d e f g h i j "Sepsis Questions and Answers". cdc.gov. Centers for Disease Control and Prevention (CDC). 22 May 2014. Archived from the original on 4 December 2014. Retrieved 28 November 2014.
3. ^ a b c d e f g h i j k Jui J, et al. (American College of Emergency Physicians) (2011). "Ch. 146: Septic Shock". In Tintinalli JE, et al. (eds.). Tintinalli's Emergency Medicine: A Comprehensive Study Guide (7th ed.). New York: McGraw-Hill. pp. 1003–14. ISBN 9780071484800.
4. ^ a b c Deutschman CS, Tracey KJ (April 2014). "Sepsis: Current dogma and new perspectives". Immunity. 40 (4): 463–75. doi:10.1016/j.immuni.2014.04.001. PMID 24745331.
5. ^ a b c d e f g h Singer M, Deutschman CS, et al. (February 2016). "The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3)". JAMA. 315 (8): 801–10. doi:10.1001/jama.2016.0287. PMC 4968574. PMID 26903338.
6. ^ 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 Rhodes A, Evans LE, et al. (March 2017). "Surviving Sepsis Campaign: International Guidelines for Management of Sepsis and Septic Shock: 2016". Intensive Care Medicine. 43 (3): 304–377. doi:10.1007/s00134-017-4683-6. PMID 28101605.
7. ^ a b c d e Jawad I, Lukšić I, et al. (June 2012). "Assessing available information on the burden of sepsis: Global estimates of incidence, prevalence and mortality". Journal of Global Health. 2 (1): 010404. doi:10.7189/jogh.01.010404. PMC 3484761. PMID 23198133.
8. ^ a b c Martin GS (June 2012). "Sepsis, severe sepsis and septic shock: Changes in incidence, pathogens and outcomes". Expert Review of Anti-infective Therapy. 10 (6): 701–6. doi:10.1586/eri.12.50. PMC 3488423. PMID 22734959.
9. ^ a b c Chao C, Muming Y, Yanfen C (2019). "Pathological Alteration and Therapeutic Implications of Sepsis-Induced Immune Cell Apoptosis". Cell Death & Disease. 10 (10): 782. doi:10.1038/s41419-019-2015-1. PMC 6791888. PMID 31611560.
10. ^ 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 Dellinger RP, Levy MM, et al. (February 2013). "Surviving Sepsis Campaign: International Guidelines for Management of Severe Sepsis and Septic Shock: 2012". Critical Care Medicine. 41 (2): 580–637. doi:10.1097/CCM.0b013e31827e83af. PMID 23353941.
11. ^ a b Annane, D; Bellissant, E; Bollaert, PE; Briegel, J; Keh, D; Kupfer, Y; Pirracchio, R; Rochwerg, B (6 December 2019). "Corticosteroids for treating sepsis in children and adults". The Cochrane Database of Systematic Reviews. 12: CD002243. doi:10.1002/14651858.CD002243.pub4. PMC 6953403. PMID 31808551.
12. ^ a b Fang F, Zhang Y, et al. (February 2019). "Association of corticosteroid treatment with outcomes in adult patients with sepsis: A systematic review and meta-analysis". JAMA Internal Medicine. 179 (2): 213–223. doi:10.1001/jamainternmed.2018.5849. PMC 6439648. PMID 30575845.
13. ^ Long B, Koyfman A (November 2017). "Controversies in corticosteroid use for sepsis". The Journal of Emergency Medicine. 53 (5): 653–661. doi:10.1016/j.jemermed.2017.05.024. PMID 28916121.
14. ^ Rudd, Kristina E; Johnson, Sarah Charlotte; Agesa, Kareha M; Shackelford, Katya Anne; Tsoi, Derrick; Kievlan, Daniel Rhodes; Colombara, Danny V; Ikuta, Kevin S; Kissoon, Niranjan; Finfer, Simon; Fleischmann-Struzek, Carolin; Machado, Flavia R; Reinhart, Konrad K; Rowan, Kathryn; Seymour, Christopher W; Watson, R Scott; West, T Eoin; Marinho, Fatima; Hay, Simon I; Lozano, Rafael; Lopez, Alan D; Angus, Derek C; Murray, Christopher J L; Naghavi, Mohsen (January 2020). "Global, regional, and national sepsis incidence and mortality, 1990–2017: analysis for the Global Burden of Disease Study". The Lancet. 395 (10219): 200–211. doi:10.1016/S0140-6736(19)32989-7. PMC 6970225. PMID 31954465.
15. ^ a b Angus DC, van der Poll T (August 2013). "Severe sepsis and septic shock". The New England Journal of Medicine. 369 (9): 840–51. doi:10.1056/NEJMra1208623. PMID 23984731. Lay summary (30 August 2013).
16. ^ a b c Bone RC, Balk RA, et al. (The ACCP/SCCM Consensus Conference Committee. American College of Chest Physicians/Society of Critical Care Medicine) (June 1992). "Definitions for sepsis and organ failure and guidelines for the use of innovative therapies in sepsis". Chest. 101 (6): 1644–55. doi:10.1378/chest.101.6.1644. PMID 1303622. "Septicemia... has been used... in a variety of ways... We therefore suggest that this term be eliminated from current usage."
17. ^ a b Levy MM, Fink MP, et al. (April 2003). "2001 SCCM/ESICM/ACCP/ATS/SIS International Sepsis Definitions Conference" (PDF). Critical Care Medicine. 31 (4): 1250–6. doi:10.1097/01.CCM.0000050454.01978.3B. PMID 12682500. S2CID 19605781. Archived (PDF) from the original on 24 September 2015.
18. ^ a b Felner K, Smith RL (2012). "Ch. 138: Sepsis". In McKean S, et al. (eds.). Principles and Practice of Hospital Medicine. New York: McGraw-Hill. pp. 1099–109. ISBN 978-0071603898.
19. ^ a b c d e Gauer, RL (1 July 2013). "Early recognition and management of sepsis in adults: the first six hours". American Family Physician. 88 (1): 44–53. PMID 23939605.
20. ^ MedlinePlus Encyclopedia: Sepsis. Retrieved 29 November 2014.
21. ^ a b c d Munford RS, Suffredini AF (2014). "Ch. 75: Sepsis, Severe Sepsis and Septic Shock". In Bennett JE, et al. (eds.). Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases (8th ed.). Philadelphia: Elsevier Health Sciences. pp. 914–34. ISBN 9780323263733.
22. ^ a b c Polat G, Ugan RA, et al. (February 2017). "Sepsis and septic shock: Current treatment strategies and new approaches". The Eurasian Journal of Medicine. 49 (1): 53–8. doi:10.5152/eurasianjmed.2017.17062. PMC 5389495. PMID 28416934.
23. ^ Bloch KC (2009). "Ch. 4: Infectious Diseases". In McPhee SJ, et al. (eds.). Pathophysiology of Disease (6th ed.). New York: McGraw-Hill. ISBN 9780071621670.
24. ^ Ramachandran G (January 2014). "Gram-positive and gram-negative bacterial toxins in sepsis: A brief review". Virulence. 5 (1): 213–8. doi:10.4161/viru.27024. PMC 3916377. PMID 24193365.
25. ^ Delaloye J, Calandra T (January 2014). "Invasive candidiasis as a cause of sepsis in the critically ill patient". Virulence. 5 (1): 161–9. doi:10.4161/viru.26187. PMC 3916370. PMID 24157707.
26. ^ Harris R (22 February 2018). "Synergy Between Nurses And Automation Could Be Key To Finding Sepsis Early". All Things Considered. NPR. Archived from the original on 27 February 2018. Retrieved 26 February 2018.
27. ^ a b c Wacker C, Prkno A, et al. (May 2013). "Procalcitonin as a diagnostic marker for sepsis: A systematic review and meta-analysis". The Lancet Infectious Diseases. 13 (5): 426–35. doi:10.1016/S1473-3099(12)70323-7. PMID 23375419.
28. ^ Morris E, McCartney D, et al. (December 2017). "Point-of-care lactate testing for sepsis at presentation to health care: A systematic review of patient outcomes". The British Journal of General Practice. 67 (665): e859–70. doi:10.3399/bjgp17X693665. PMC 5697556. PMID 29158243.
29. ^ Bone RC, Balk RA, et al. (The ACCP/SCCM Consensus Conference Committee. American College of Chest Physicians/Society of Critical Care Medicine) (June 1992). "Definitions for sepsis and organ failure and guidelines for the use of innovative therapies in sepsis". Chest. 101 (6): 1644–55. doi:10.1378/chest.101.6.1644. PMID 1303622.
30. ^ a b c d Soong J, Soni N (June 2012). "Sepsis: Recognition and treatment". Clinical Medicine. 12 (3): 276–80. doi:10.7861/clinmedicine.12-3-276. PMC 4953494. PMID 22783783.
31. ^ Simpson SQ (May 2016). "New sepsis criteria: A change we should not make". Chest. 149 (5): 1117–8. doi:10.1016/j.chest.2016.02.653. PMID 26927525. "We believe that adopting a more restrictive definition that requires further progression along the sepsis pathway may delay intervention in this highly time-dependent condition, with additional risk to patients."
32. ^ Vincent JL, Martin GS, et al. (July 2016). "qSOFA does not replace SIRS in the definition of sepsis". Critical Care. 20 (1): 210. doi:10.1186/s13054-016-1389-z. PMC 4947518. PMID 27423462. "We hope this editorial will clarify that the qSOFA is meant to be used to raise suspicion of sepsis and prompt further action—it is not a replacement for SIRS and is not part of the definition of sepsis."
33. ^ Fernando SM, Tran A, et al. (February 2018). "Prognostic accuracy of the quick Sequential Organ Failure Assessment for mortality in patients with suspected infection: A systematic review and meta-analysis". Annals of Internal Medicine. 168 (4): 266–75. doi:10.7326/M17-2820. PMID 29404582. S2CID 3441582.
34. ^ Abraham E, Singer M (October 2007). "Mechanisms of sepsis-induced organ dysfunction". Critical Care Medicine. 35 (10): 2408–16. doi:10.1097/01.CCM.0000282072.56245.91. PMID 17948334. S2CID 12657048.
35. ^ Goldstein B, Giroir B, et al. (January 2005). "International pediatric sepsis consensus conference: Definitions for sepsis and organ dysfunction in pediatrics". Pediatric Critical Care Medicine. 6 (1): 2–8. doi:10.1097/01.PCC.0000149131.72248.E6. PMID 15636651. S2CID 8190072.
36. ^ a b Backes Y, van der Sluijs KF, et al. (September 2012). "Usefulness of suPAR as a biological marker in patients with systemic inflammation or infection: A systematic review". Intensive Care Medicine. 38 (9): 1418–28. doi:10.1007/s00134-012-2613-1. PMC 3423568. PMID 22706919.
37. ^ Mayr FB, Yende S, et al. (January 2014). "Epidemiology of severe sepsis". Virulence. 5 (1): 4–11. doi:10.4161/viru.27372. PMC 3916382. PMID 24335434.
38. ^ Machowicz R, Janka G, et al. (June 2017). "Similar but not the same: Differential diagnosis of HLH and sepsis". Critical Reviews in Oncology/Hematology. 114: 1–12. doi:10.1016/j.critrevonc.2017.03.023. PMID 28477737.
39. ^ a b Satar M, Ozlü F (September 2012). "Neonatal sepsis: A continuing disease burden" (PDF). The Turkish Journal of Pediatrics. 54 (5): 449–57. PMID 23427506. Archived from the original (PDF) on 19 December 2014.
40. ^ a b c d e f g Ely EW, Goyette RE (2005). "Ch. 46: Sepsis with Acute Organ Dysfunction". In Hall JB, et al. (eds.). Principles of Critical Care (3rd ed.). New York: McGraw-Hill Medical. ISBN 978-0071416405.
41. ^ Shukla P, Rao GM, et al. (November 2014). "Therapeutic interventions in sepsis: Current and anticipated pharmacological agents". British Journal of Pharmacology. 171 (22): 5011–31. doi:10.1111/bph.12829. PMC 4253453. PMID 24977655.
42. ^ Park BS, Lee JO (December 2013). "Recognition of lipopolysaccharide pattern by TLR4 complexes". Experimental & Molecular Medicine. 45 (12): e66. doi:10.1038/emm.2013.97. PMC 3880462. PMID 24310172.
43. ^ Cross AS (January 2014). "Anti-endotoxin vaccines: Back to the future". Virulence. 5 (1): 219–25. doi:10.4161/viru.25965. PMC 3916378. PMID 23974910.
44. ^ Fournier B, Philpott DJ (July 2005). "Recognition of Staphylococcus aureus by the innate immune system". Clinical Microbiology Reviews. 18 (3): 521–40. doi:10.1128/CMR.18.3.521-540.2005. PMC 1195972. PMID 16020688.
45. ^ Leentjens J, Kox M, et al. (June 2013). "Immunotherapy for the adjunctive treatment of sepsis: From immunosuppression to immunostimulation. Time for a paradigm change?". American Journal of Respiratory and Critical Care Medicine. 187 (12): 1287–93. doi:10.1164/rccm.201301-0036CP. PMID 23590272.
46. ^ Antonopoulou A, Giamarellos-Bourboulis EJ (January 2011). "Immunomodulation in sepsis: State of the art and future perspective". Immunotherapy. 3 (1): 117–28. doi:10.2217/imt.10.82. PMID 21174562.
47. ^ a b c Yuki K, Murakami N (6 January 2016). "Sepsis pathophysiology and anesthetic consideration". Cardiovascular & Hematological Disorders Drug Targets. 15 (1): 57–69. doi:10.2174/1871529x15666150108114810. PMC 4704087. PMID 25567335.
48. ^ Fujishima S (1 November 2016). "Organ dysfunction as a new standard for defining sepsis". Inflammation and Regeneration. 36 (24): 24. doi:10.1186/s41232-016-0029-y. PMC 5725936. PMID 29259697.
49. ^ Nimah M, Brilli RJ (July 2003). "Coagulation dysfunction in sepsis and multiple organ system failure". Critical Care Clinics. 19 (3): 441–58. doi:10.1016/s0749-0704(03)00008-3. PMID 12848314.
50. ^ a b Marik PE (June 2014). "Iatrogenic salt water drowning and the hazards of a high central venous pressure". Annals of Intensive Care. 4: 21. doi:10.1186/s13613-014-0021-0. PMC 4122823. PMID 25110606.
51. ^ a b c d Marik PE (June 2014). "Early management of severe sepsis: Concepts and controversies". Chest. 145 (6): 1407–18. CiteSeerX 10.1.1.661.7518. doi:10.1378/chest.13-2104. PMID 24889440.
52. ^ Daniels R (April 2011). "Surviving the first hours in sepsis: Getting the basics right (an intensivist's perspective)" (PDF). Journal of Antimicrobial Chemotherapy. 66 (Suppl 2): ii11–23. doi:10.1093/jac/dkq515. PMID 21398303.
53. ^ Scottish Intercollegiate Guidelines Network (SIGN) (May 2014). Care of Deteriorating Patients (PDF). Guideline 139. Edinburgh: SIGN. ISBN 978-1-909103-26-9. Archived from the original (PDF) on 11 August 2014. Retrieved 6 December 2014.
54. ^ Sterling SA, Miller WR, et al. (September 2015). "The impact of timing of antibiotics on outcomes in severe sepsis and septic shock: A systematic review and meta-Analysis". Critical Care Medicine. 43 (9): 1907–15. doi:10.1097/CCM.0000000000001142. PMC 4597314. PMID 26121073.
55. ^ Roberts JA, Abdul-Aziz MH, et al. (September 2016). "Continuous versus intermittent β-Lactam infusion in severe sepsis. A meta-analysis of individual patient data from randomized trials". American Journal of Respiratory and Critical Care Medicine. 194 (6): 681–91. doi:10.1164/rccm.201601-0024oc. PMID 26974879.
56. ^ de Caen AR, Berg MD, et al. (November 2015). "Part 12: Pediatric Advanced Life Support: 2015 American Heart Association guidelines update for cardiopulmonary resuscitation and emergency cardiovascular care". Circulation. 132 (18 Suppl 2): S526–42. doi:10.1161/cir.0000000000000266. PMC 6191296. PMID 26473000.
57. ^ a b c Lewis SR, Pritchard MW, et al. (August 2018). "Colloids versus crystalloids for fluid resuscitation in critically ill people". The Cochrane Database of Systematic Reviews. 8: CD000567. doi:10.1002/14651858.CD000567.pub7. PMC 6513027. PMID 30073665.
58. ^ Zarychanski R, Abou-Setta AM, et al. (February 2013). "Association of hydroxyethyl starch administration with mortality and acute kidney injury in critically ill patients requiring volume resuscitation: A systematic review and meta-analysis". JAMA. 309 (7): 678–88. doi:10.1001/jama.2013.430. PMID 23423413.
59. ^ Haase N, Perner A, et al. (February 2013). "Hydroxyethyl starch 130/0.38-0.45 versus crystalloid or albumin in patients with sepsis: Systematic review with meta-analysis and trial sequential analysis". BMJ. 346: f839. doi:10.1136/bmj.f839. PMC 3573769. PMID 23418281.
60. ^ Serpa Neto A, Veelo DP, et al. (February 2014). "Fluid resuscitation with hydroxyethyl starches in patients with sepsis is associated with an increased incidence of acute kidney injury and use of renal replacement therapy: A systematic review and meta-analysis of the literature". Journal of Critical Care. 29 (1): 185.e1–7. doi:10.1016/j.jcrc.2013.09.031. PMID 24262273.
61. ^ Patel A, Laffan MA, et al. (July 2014). "Randomised trials of human albumin for adults with sepsis: Systematic review and meta-analysis with trial sequential analysis of all-cause mortality". BMJ. 349: g4561. doi:10.1136/bmj.g4561. PMC 4106199. PMID 25099709.
62. ^ Holst LB, Haase N, et al. (October 2014). "Lower versus higher hemoglobin threshold for transfusion in septic shock". The New England Journal of Medicine. 371 (15): 1381–91. doi:10.1056/NEJMoa1406617. PMID 25270275. S2CID 16280618.
63. ^ a b Alejandria MM, Lansang MA, et al. (September 2013). "Intravenous immunoglobulin for treating sepsis, severe sepsis and septic shock". The Cochrane Database of Systematic Reviews. 9 (9): CD001090. doi:10.1002/14651858.CD001090.pub2. PMC 6516813. PMID 24043371.
64. ^ Bai, X; Yu, W; Ji, W; Lin, Z; Tan, S; Duan, K; Dong, Y; Xu, L; Li, N (3 October 2014). "Early versus delayed administration of norepinephrine in patients with septic shock". Critical Care. 18 (5): 532. doi:10.1186/s13054-014-0532-y. PMC 4194405. PMID 25277635.
65. ^ a b Avni T, Lador A, et al. (2015). "Vasopressors for the treatment of septic shock: Systematic review and meta-analysis". PLOS One. 10 (8): e0129305. Bibcode:2015PLoSO..1029305A. doi:10.1371/journal.pone.0129305. PMC 4523170. PMID 26237037.
66. ^ a b Hamzaoui O, Scheeren TW, et al. (August 2017). "Norepinephrine in septic shock: When and how much?". Current Opinion in Critical Care. 23 (4): 342–7. doi:10.1097/mcc.0000000000000418. PMID 28509668. S2CID 2078670.
67. ^ a b c Dubin A, Lattanzio B, et al. (2017). "The spectrum of cardiovascular effects of dobutamine - from healthy subjects to septic shock patients". Revista Brasileira de Terapia Intensiva. 29 (4): 490–8. doi:10.5935/0103-507x.20170068. PMC 5764562. PMID 29340539.
68. ^ Patel GP, Balk RA (January 2012). "Systemic steroids in severe sepsis and septic shock". American Journal of Respiratory and Critical Care Medicine. 185 (2): 133–9. doi:10.1164/rccm.201011-1897CI. PMID 21680949.
69. ^ Volbeda M, Wetterslev J, et al. (July 2015). "Glucocorticosteroids for sepsis: Systematic review with meta-analysis and trial sequential analysis". Intensive Care Medicine. 41 (7): 1220–34. doi:10.1007/s00134-015-3899-6. PMC 4483251. PMID 26100123.
70. ^ Ni YN, Liu YM, et al. (September 2019). "Can corticosteroids reduce the mortality of patients with severe sepsis? A systematic review and meta-analysis". The American Journal of Emergency Medicine. 37 (9): 1657–64. doi:10.1016/j.ajem.2018.11.040. PMID 30522935.
71. ^ a b c Marik PE, Pastores SM, et al. (June 2008). "Recommendations for the diagnosis and management of corticosteroid insufficiency in critically ill adult patients: Consensus statements from an international task force by the American College of Critical Care Medicine". Critical Care Medicine. 36 (6): 1937–49. doi:10.1097/CCM.0b013e31817603ba. PMID 18496365. S2CID 7861625.
72. ^ NHLBI–NIH ARDS Network (2014). "Tools". ardsnet.org. National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH). Archived from the original on 3 December 2019.
73. ^ Cherfan AJ, Arabi YM, et al. (May 2012). "Advantages and disadvantages of etomidate use for intubation of patients with sepsis". Pharmacotherapy. 32 (5): 475–82. doi:10.1002/j.1875-9114.2012.01027.x. PMID 22488264. S2CID 6406983.
74. ^ Chan CM, Mitchell AL, et al. (November 2012). "Etomidate is associated with mortality and adrenal insufficiency in sepsis: A meta-analysis*". Critical Care Medicine. 40 (11): 2945–53. doi:10.1097/CCM.0b013e31825fec26. PMID 22971586. S2CID 916535.
75. ^ Gu WJ, Wang F, et al. (February 2015). "Single-dose etomidate does not increase mortality in patients with sepsis: A systematic review and meta-analysis of randomized controlled trials and observational studies". Chest. 147 (2): 335–46. doi:10.1378/chest.14-1012. PMID 25255427. S2CID 22739840.
76. ^ Lagunes, Leonel; Encina, Belen; Ramirez-Estrada, Sergio (September 2016). "Current understanding in source control management in septic shock patients: a review". Annals of Translational Medicine. 4 (17): 330. doi:10.21037/atm.2016.09.02. ISSN 2305-5839. PMC 5050189. PMID 27713888.
77. ^ De Waele, J. J.; Malbrain, M. M. L. G.; De Laet, I. E. (2009), Vincent, Jean-Louis (ed.), "Source Control in the ICU", Yearbook of Intensive Care and Emergency Medicine, Springer Berlin Heidelberg, pp. 93–101, doi:10.1007/978-3-540-92276-6_9, ISBN 978-3-540-92275-9
78. ^ a b c d Dellinger RP, Levy MM, et al. (January 2008). "Surviving Sepsis Campaign: International Guidelines for Management of Severe Sepsis and Septic Shock: 2008". Intensive Care Medicine. 34 (1): 17–60. doi:10.1007/s00134-007-0934-2. PMC 2249616. PMID 18058085.
79. ^ a b c d Rivers E, Nguyen B, et al. (November 2001). "Early goal-directed therapy in the treatment of severe sepsis and septic shock". The New England Journal of Medicine. 345 (19): 1368–77. doi:10.1056/NEJMoa010307. PMID 11794169.
80. ^ Fuller BM, Dellinger RP (June 2012). "Lactate as a hemodynamic marker in the critically ill". Current Opinion in Critical Care. 18 (3): 267–72. doi:10.1097/MCC.0b013e3283532b8a. PMC 3608508. PMID 22517402.
81. ^ a b Dell'Anna AM, Taccone FS (October 2015). "Early-goal directed therapy for septic shock: Is it the end?". Minerva Anestesiologica. 81 (10): 1138–43. PMID 26091011.
82. ^ Rusconi AM, Bossi I, et al. (September 2015). "Early goal-directed therapy vs usual care in the treatment of severe sepsis and septic shock: A systematic review and meta-analysis". Internal and Emergency Medicine. 10 (6): 731–43. doi:10.1007/s11739-015-1248-y. PMID 25982917. S2CID 207311061.
83. ^ Shane AL, Stoll BJ (January 2014). "Neonatal sepsis: Progress towards improved outcomes". Journal of Infection. 68 (Suppl 1): S24–32. doi:10.1016/j.jinf.2013.09.011. PMID 24140138.
84. ^ Camacho-Gonzalez A, Spearman PW, et al. (April 2013). "Neonatal infectious diseases: Evaluation of neonatal sepsis". Pediatric Clinics of North America. 60 (2): 367–89. doi:10.1016/j.pcl.2012.12.003. PMC 4405627. PMID 23481106.
85. ^ Kutko MC, Calarco MP, et al. (July 2003). "Mortality rates in pediatric septic shock with and without multiple organ system failure". Pediatric Critical Care Medicine. 4 (3): 333–7. doi:10.1097/01.PCC.0000074266.10576.9B. PMID 12831416. S2CID 18089789.
86. ^ Drewry AM, Ablordeppey EA, et al. (May 2017). "Antipyretic therapy in critically ill septic patients: A systematic review and meta-analysis". Critical Care Medicine. 45 (5): 806–13. doi:10.1097/CCM.0000000000002285. PMC 5389594. PMID 28221185.
87. ^ Niven DJ, Laupland KB, et al. (December 2013). "Diagnosis and management of temperature abnormality in ICUs: A EUROBACT investigators' survey". Critical Care. 17 (6): R289. doi:10.1186/cc13153. PMC 4057370. PMID 24326145.
88. ^ Launey Y, Nesseler N, et al. (2011). "Clinical Review: Fever in septic ICU patients--friend or foe?". Critical Care. 15 (3): 222. doi:10.1186/cc10097. PMC 3218963. PMID 21672276.
89. ^ Szakmany T, Hauser B, et al. (September 2012). "N-acetylcysteine for sepsis and systemic inflammatory response in adults". The Cochrane Database of Systematic Reviews. 9 (9): CD006616. doi:10.1002/14651858.CD006616.pub2. PMC 6517277. PMID 22972094.
90. ^ a b Martí-Carvajal AJ, Solà I, et al. (December 2012). "Human recombinant protein C for severe sepsis and septic shock in adult and paediatric patients". The Cochrane Database of Systematic Reviews. 12: CD004388. doi:10.1002/14651858.CD004388.pub6. PMC 6464614. PMID 23235609.
91. ^ Fink MP, Warren HS (October 2014). "Strategies to improve drug development for sepsis". Nature Reviews Drug Discovery. 13 (10): 741–58. doi:10.1038/nrd4368. PMID 25190187. S2CID 20904332.
92. ^ Hirasawa H, Oda S, et al. (September 2009). "Blood glucose control in patients with severe sepsis and septic shock". World Journal of Gastroenterology. 15 (33): 4132–6. doi:10.3748/wjg.15.4132. PMC 2738808. PMID 19725146.
93. ^ Bauer M, Gerlach H, Vogelmann T, Preissing F, Stiefel J, Adam D (May 2020). "Mortality in sepsis and septic shock in Europe, North America and Australia between 2009 and 2019- results from a systematic review and meta-analysis". Critical Care (London, England). 24 (1): 239. doi:10.1186/s13054-020-02950-2. PMC 7236499. PMID 32430052.
94. ^ Carpenter CR, Keim SM, et al. (October 2009). "Risk stratification of the potentially septic patient in the emergency department: The Mortality in the Emergency Department Sepsis (MEDS) score". The Journal of Emergency Medicine. 37 (3): 319–27. doi:10.1016/j.jemermed.2009.03.016. PMID 19427752.
95. ^ Jackson JC, Hopkins RO, et al. (November 2009). "Acute respiratory distress syndrome, sepsis, and cognitive decline: A review and case study". Southern Medical Journal. 102 (11): 1150–7. doi:10.1097/SMJ.0b013e3181b6a592. PMC 3776422. PMID 19864995.
96. ^ Lyle NH, Pena OM, et al. (September 2014). "Barriers to the effective treatment of sepsis: Antimicrobial agents, sepsis definitions, and host-directed therapies". Annals of the New York Academy of Sciences. 1323 (2014): 101–14. Bibcode:2014NYASA1323..101L. doi:10.1111/nyas.12444. PMID 24797961. S2CID 5089865.
97. ^ Munford RS (2011). "Ch. 271: Severe Sepsis and Septic Shock". In Longo DL, et al. (eds.). Harrison's Principles of Internal Medicine (18th ed.). New York: McGraw-Hill. pp. 2223–31. ISBN 9780071748896.
98. ^ a b Sutton JP, Friedman B (September 2013). "Trends in Septicemia Hospitalizations and Readmissions in Selected HCUP States, 2005 and 2010". Healthcare Cost and Utilization Project. Statistical Brief #161. United States National Library of Medicine. PMID 24228290. Archived from the original on 6 September 2017.
99. ^ Martin GS, Mannino DM, et al. (April 2003). "The epidemiology of sepsis in the United States from 1979 through 2000". The New England Journal of Medicine. 348 (16): 1546–54. doi:10.1056/NEJMoa022139. PMID 12700374.
100. ^ Hines AL, Barrett ML, et al. (April 2014). "Conditions with the Largest Number of Adult Hospital Readmissions by Payer, 2011". Healthcare Cost and Utilization Project. Statistical Brief #172. Agency for Healthcare Research and Quality: United States National Library of Medicine. PMID 24901179. Archived from the original on 4 March 2016.
101. ^ Koh GC, Peacock SJ, et al. (April 2012). "The impact of diabetes on the pathogenesis of sepsis". European Journal of Clinical Microbiology & Infectious Diseases. 31 (4): 379–88. doi:10.1007/s10096-011-1337-4. PMC 3303037. PMID 21805196.
102. ^ Rubin LG, Schaffner W (July 2014). "Clinical Practice: Care of the asplenic patient". The New England Journal of Medicine. 371 (4): 349–56. doi:10.1056/NEJMcp1314291. PMID 25054718.
103. ^ Geroulanos S, Douka ET (December 2006). "Historical perspective of the word "sepsis"". Intensive Care Medicine. 32 (12): 2077. doi:10.1007/s00134-006-0392-2. PMID 17131165. S2CID 37084190.
104. ^ Vincent J (2008). "Ch. 1: Definition of Sepsis and Non-infectious SIRS". In Cavaillon J, et al. (eds.). Sepsis and Non-infectious Systemic Inflammation: From Biology to Critical Care. John Wiley & Sons. p. 3. ISBN 9783527319350.
105. ^ Marshall JC (March 2008). "Sepsis: Rethinking the approach to clinical research". Journal of Leukocyte Biology. 83 (3): 471–82. CiteSeerX 10.1.1.492.7774. doi:10.1189/jlb.0607380. PMID 18171697. S2CID 24332955.
106. ^ a b Stewart, Cynthia. "Understand How ICD-10 Expands Sepsis Coding - AAPC Knowledge Center". AAPC. Retrieved 6 February 2020.
107. ^ "Bacteremia". The Merck Manual—Home Health Handbook. Merck & Co. Archived from the original on 28 July 2017. Retrieved 25 November 2017.
108. ^ Shear MJ (1944). "Chemical treatment of tumors, IX: Reactions of mice with primary subcutaneous tumors to injection of a hemorrhage-producing bacterial polysaccharide". Journal of the National Cancer Institute. 4 (5): 461–76. doi:10.1093/jnci/4.5.461.
109. ^ Lüderitz O, Galanos C, et al. (1973). "Lipid A: Chemical structure and biological activity". The Journal of Infectious Diseases. 128: S17–S29. doi:10.1093/infdis/128.Supplement_1.S17. JSTOR 30106029. PMID 4352586.
110. ^ Heppner G, Weiss DW (September 1965). "High susceptibility of Strain A mice to endotoxin and endotoxin-red blood cell mixtures". Journal of Bacteriology. 90 (3): 696–703. doi:10.1128/JB.90.3.696-703.1965. PMC 315712. PMID 16562068.
111. ^ O'Brien AD, Rosenstreich DL, et al. (January 1980). "Genetic control of susceptibility to Salmonella typhimurium in mice: Role of the LPS gene". Journal of Immunology. 124 (1): 20–4. PMID 6985638.
112. ^ Poltorak A, Smirnova I, et al. (September 1998). "Genetic and physical mapping of the Lps locus: Identification of the toll-4 receptor as a candidate gene in the critical region". Blood Cells, Molecules and Diseases. 24 (3): 340–55. doi:10.1006/bcmd.1998.0201. PMID 10087992.
113. ^ Poltorak A, He X, et al. (December 1998). "Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: Mutations in Tlr4 gene". Science. 282 (5396): 2085–8. Bibcode:1998Sci...282.2085P. doi:10.1126/science.282.5396.2085. PMID 9851930.
114. ^ Korneev, K. V. (18 October 2019). "Mouse Models of Sepsis and Septic Shock". Molecular Biology. 53 (5): 704–717. doi:10.1134/S0026893319050108. PMID 31661479. S2CID 204758015.
115. ^ Lewis AJ, Seymour CW, et al. (August 2016). "Current murine models of sepsis". Surgical Infections. 17 (4): 385–93. doi:10.1089/sur.2016.021. PMC 4960474. PMID 27305321.
116. ^ Mills M, Estes MK (September 2016). "Physiologically relevant human tissue models for infectious diseases". Drug Discovery Today. 21 (9): 1540–52. doi:10.1016/j.drudis.2016.06.020. PMC 5365153. PMID 27352632.
117. ^ Engber D (13 February 2013). "Septic Shock". Slate. Archived from the original on 9 April 2017.
118. ^ Seok J, Warren HS, et al. (February 2013). "Genomic responses in mouse models poorly mimic human inflammatory diseases". Proceedings of the National Academy of Sciences of the United States of America. 110 (9): 3507–12. Bibcode:2013PNAS..110.3507S. doi:10.1073/pnas.1222878110. PMC 3587220. PMID 23401516.
119. ^ Hazeldine J, Hampson P, et al. (2016). "The diagnostic and prognostic value of systems biology research in major traumatic and thermal injury: A review". Burns & Trauma. 4: 33. doi:10.1186/s41038-016-0059-3. PMC 5030723. PMID 27672669.
120. ^ a b Torio CM, Moore BJ (1 January 2006). "National Inpatient Hospital Costs: The Most Expensive Conditions by Payer, 2013". Healthcare Cost and Utilization Project. Statistical Brief #204. Agency for Healthcare Research and Quality, National Library of Medicine. PMID 27359025. Archived from the original on 6 September 2017.
121. ^ Pfuntner A, Wier LM, et al. (December 2013). "Costs for Hospital Stays in the United States, 2011". Healthcare Cost and Utilization Project. Statistical Brief #168. National Library of Medicine. PMID 24455786.
122. ^ "History". Surviving Sepsis Campaign. Society of Critical Care Medicine. Archived from the original on 4 March 2014. Retrieved 24 February 2014.
123. ^ Sepsis Alliance. "About Us". sepsis.org. Archived from the original on 8 September 2015. Retrieved 8 October 2015.
124. ^ Rozsa L, Apari P, et al. (2017). "The evolutionary logic of sepsis". Infection, Genetics and Evolution. 55: 135–41. doi:10.1016/j.meegid.2017.09.006. PMID 28899789.
## External links[edit]
Wikimedia Commons has media related to Sepsis.
Wikipedia's health care articles can be viewed offline with the Medical Wikipedia app.
* Sepsis at Curlie
* SIRS, Sepsis, and Septic Shock Criteria
* "Sepsis". MedlinePlus. U.S. National Library of Medicine.
Classification
D
* ICD-10: A40, A41, T81.4, T88.0
* ICD-9-CM: 995.91
* MeSH: D018805
* DiseasesDB: 11960
External resources
* MedlinePlus: 000666
* Patient UK: Sepsis
* Scholia: Q183134
* v
* t
* e
Intensive care medicine
* Health science
* Medicine
* Medical specialities
* Respiratory therapy
General terms
* Intensive care unit (ICU)
* Neonatal intensive care unit (NICU)
* Pediatric intensive care unit (PICU)
* Coronary care unit (CCU)
* Critical illness insurance
Conditions
Organ system failure
Shock sequence
SIRS
Sepsis
Severe sepsis
Septic shock
Multiple organ dysfunction syndrome
Other shock
Cardiogenic shock
Distributive shock
Anaphylaxis
Obstructive shock
Neurogenic shock
Spinal shock
Vasodilatory shock
Organ failure
Acute renal failure
Acute respiratory distress syndrome
Acute liver failure
Respiratory failure
Multiple organ dysfunction syndrome
* Neonatal infection
* Polytrauma
* Coma
Complications
* Critical illness polyneuropathy / myopathy
* Critical illness–related corticosteroid insufficiency
* Decubitus ulcers
* Fungemia
* Stress hyperglycemia
* Stress ulcer
Iatrogenesis
* Methicillin-resistant Staphylococcus aureus
* Oxygen toxicity
* Refeeding syndrome
* Ventilator-associated lung injury
* Ventilator-associated pneumonia
* Dialytrauma
Diagnosis
* Arterial blood gas
* Catheter
* Arterial line
* Central venous catheter
* Pulmonary artery catheter
* Blood cultures
* Screening cultures
Life-supporting treatments
* Airway management
* Chest tube
* Dialysis
* Enteral feeding
* Goal-directed therapy
* Induced coma
* Mechanical ventilation
* Therapeutic hypothermia
* Total parenteral nutrition
* Tracheal intubation
Drugs
* Analgesics
* Antibiotics
* Antithrombotics
* Inotropes
* Intravenous fluids
* Neuromuscular-blocking drugs
* Recombinant activated protein C
* Sedatives
* Stress ulcer prevention drugs
* Vasopressors
ICU scoring systems
* APACHE II
* Glasgow Coma Scale
* PIM2
* SAPS II
* SAPS III
* SOFA
Physiology
* Hemodynamics
* Hypotension
* Level of consciousness
* Acid–base imbalance
* Water-electrolyte imbalance
Organisations
* Society of Critical Care Medicine
* Surviving Sepsis Campaign
* European Society of Paediatric and Neonatal Intensive Care
Related specialties
* Anesthesiology
* Cardiology
* Internal medicine
* Neurology
* Pediatrics
* Pulmonology
* Surgery
* Traumatology
* v
* t
* e
Blood film findings
Red blood cells
Size
* Anisocytosis
* Macrocytosis
* Microcytosis
Shape
* Poikilocytosis
* Membrane abnormalities
* Acanthocyte
* Codocyte
* Elliptocyte
* Hereditary elliptocytosis
* Spherocyte
* Hereditary spherocytosis
* Dacrocyte
* Echinocyte
* Schistocyte
* Degmacyte
* Sickle cell/drepanocyte
* Sickle cell disease
* Stomatocyte
* Hereditary stomatocytosis
Colour
* Anisochromia
* Hypochromic anemia
* Polychromasia
Inclusion bodies
* Developmental
* Howell–Jolly body
* Basophilic stippling
* Pappenheimer bodies
* Cabot rings
* Hemoglobin precipitation
* Heinz body
Other
* Red cell agglutination
* Rouleaux
White blood cells
Lymphocytes
* Reactive lymphocyte
* Smudge cell
* Russell bodies
Granulocytes
* Hypersegmented neutrophil
* Arneth count
* Pelger–Huët anomaly
* Döhle bodies
* Toxic granulation
* Toxic vacuolation
* Critical green inclusion
* Alder–Reilly anomaly
* Jordans' anomaly
* Birbeck granules
* Left shift
Other
* Auer rod
Authority control
* BNF: cb119650082 (data)
* GND: 4181014-4
* LCCN: sh85120119
* NDL: 00562802
*[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
|
Sepsis
|
c0036690
| 24,987 |
wikipedia
|
https://en.wikipedia.org/wiki/Sepsis
| 2021-01-18T18:33:50 |
{"mesh": ["D018805"], "umls": ["C0036690"], "icd-9": ["995.92"], "icd-10": ["R65.21", "R65.20"], "wikidata": ["Q183134"]}
|
A number sign (#) is used with this entry because of evidence that multiple types of pituitary adenoma (PITA1) are caused by heterozygous mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP; 605555) on chromosome 11q13.
Description
Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.
Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (139250)-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (176760)-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB; 188540)-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).
Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).
Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).
Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).
Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
### Genetic Heterogeneity of Pituitary Adenomas
Also see pituitary adenoma-2 (PITA2; 300943), caused by mutation in the GPR101 gene (300393); pituitary adenoma-3 (PITA3; 617686), caused by somatic activating mutations in the GNAS1 gene (139320); pituitary adenoma-4 (PITA4; 219090), caused by somatic mutation in the USP8 gene (603158); and pituitary adenoma-5 (PITA5; 617540), caused by mutation in the CDH23 gene (605516).
Patients with the chromosome Xq26.3 microduplication syndrome (300942) have growth hormone-secreting adenomas.
Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1; 131100), Carney complex (CNC1; 160980), and the McCune-Albright syndrome (174800).
Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG; 300942) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.
Clinical Features
Levin et al. (1974) reported 2 brothers with acromegaly confirmed by elevated serum GH levels and the finding of pituitary tumors. Both also had acanthosis nigricans.
Jones et al. (1984) reported an uncle and nephew with acromegaly. The authors considered MEN type I to be unlikely because of the absence of other endocrine disease at an advanced age.
Abbassioun et al. (1986) and McCarthy et al. (1990) also reported familial acromegaly.
Pestell et al. (1989) described a family in which 5 members over 3 generations had isolated functional pituitary adenomas. Four patients had acromegaly and 1 had galactorrhea from prolactin excess. Affected individuals were related as uncle and nephew or uncle and niece or as second cousins; no parent-child transmission was observed and there was no consanguinity. Pestell et al. (1989) proposed autosomal dominant inheritance with reduced penetrance. The authors considered the disorder in this family to be distinct from MEN1.
Links et al. (1993) reported a father and son with acromegaly associated with pituitary adenoma. The adenoma from the son was also found to secrete thyroid-stimulating hormone and prolactin. The father was deceased at the time of the report.
Berezin and Karasik (1995) studied 4 families in each of which more than one member were found to have prolactinoma. They concluded that there is a familial tendency to prolactinoma independent of its association with MEN1.
Gadelha et al. (1999) reported 2 unrelated families with isolated acromegaly/gigantism. In one family, 3 of 4 sibs were affected, with ages at diagnosis of 19, 21, and 23 years. In the other family, 5 of 13 sibs were diagnosed as affected at 13, 15, 17, 17, and 24 years of age. There was no history of consanguinity in either family, and the medical histories and laboratory results excluded MEN1 and the Carney complex.
Verloes et al. (1999) reported 3 unrelated families in which 2 members each had acromegaly not associated with other clinical features of MEN1. Two of the 6 patients also had galactorrhea due to prolactin secretion. Age at onset was usually in the twenties. After a review of similar families that had been published, Verloes et al. (1999) concluded that the disorder was a unique entity and showed autosomal dominant inheritance with reduced penetrance.
Jorge et al. (2001) reported a Brazilian family with acromegaly due to pituitary adenomas. The proband was a 24-year-old woman who presented with headaches, galactorrhea, menstrual irregularities, and progressive enlargement of hands and feet. Physical examination revealed evident acromegalic facial and acral features. Serum GH and prolactin were increased. The proband's brother presented at age 29 years with a 10-year history of progressive enlargement of hands, feet, and mandible. Serum growth hormone and insulin-like growth factor-1 (IGF1; 147440) were increased, but prolactin was normal. Other endocrine values were normal in both patients, excluding endocrine syndromes. Their father had acromegalic features confirmed by family pictures; he had died of an unrelated cause at the age of 40 years without endocrine evaluation. Molecular analysis of the sibs excluded germline mutations in the MEN1, GNAS1, GNAI2 (139360), and GHRHR (139191) genes.
Vierimaa et al. (2006) described a large kindred in northern Finland in which multiple individuals had pituitary adenomas, secreting either prolactin (5) or growth hormone (4); 2 individuals had a mixed tumor secreting both hormones. There were 3 clear cases of acromegaly or gigantism. Genealogy could be traced to the 1700s. Vierimaa et al. (2006) postulated that the phenotype represented a hereditary predisposition to pituitary adenomas (PAP) with very low penetrance. A second family had 2 individuals in 2 generations with somatotropinomas. Compared to patients with sporadic pituitary tumors, those with PAP had a significantly younger age at time of diagnosis (24.7 vs 43.6 years, P = 0.0003), but there were no differences in tumor size or sex distribution. Six of the 15 patients diagnosed under 35 years of age (40%) in the population-based series had PAP.
Other Features
Lopez-Velasco et al. (1997) found that hypertension was present in approximately 43% of patients with active acromegaly and in 28% of patients in whom acromegaly was cured. Studies of other cardiac parameters, including functional cardiac indexes and echocardiography, showed that hypertension was independently related to cardiac morphology and to systolic and diastolic function. Acromegaly was related to an increase in left ventricular mass, stroke volume, cardiac output, and isovolumic relaxation time, which were independent of the presence of hypertension. In the 5 patients in whom active acromegaly was successfully treated, left ventricular mass and left ventricular posterior wall thickness were reduced 1 year later. Lopez-Velasco et al. (1997) concluded that asymptomatic morphologic and functional cardiac abnormalities present in acromegalic patients are independently related to acromegaly and hypertension, suggesting the existence of a specific acromegalic myocardiopathy that might be aggravated by the coexistence of hypertension.
Among 25 patients with uncomplicated acromegaly and 25 controls, Colao et al. (2002) found similar resting blood pressure, whereas heart rate at rest and systolic blood pressure at peak exercise were higher in the patients. The left ventricular mass index was higher in acromegalic patients than in controls; 7 patients had left ventricular hypertrophy. Diastolic function was similar in the 2 groups. The ejection fraction at rest, but not at peak exercise, was significantly increased in the patients compared with controls; as a consequence, the exercise-induced changes in the ejection fraction were lower in patients than controls. At common carotid ultrasonography, young patients with acromegaly had increased diastolic peak velocity and increased intima media thickness. The authors concluded that short-term GH excess, despite causing enhanced cardiac performance at rest, reduces cardiac performance on effort and impairs vascular morphology. These deleterious effects of early-onset acromegaly were ameliorated by suppressing GH/IGF1 levels for 6 months.
Parkinson et al. (2001) found that women with active acromegaly had serum IGF1 values 82 ng/ml less than males (P less than 0.02) for a given serum GH value. In females receiving oral estrogen, mean serum IGF1 for a given GH value was 130 ng/ml lower than in males (P = 0.01), but only 60 ng/ml lower than in the remaining 45 females (NS; P = 0.2). The authors concluded that there is a gender difference in the relationship between serum GH and IGF1 in patients with active acromegaly consistent with relative GH resistance observed in normal and GH-deficient females, which may, in part, be mediated by estrogen.
Mapping
Thakker et al. (1993) found loss of heterozygosity (LOH) for chromosome 11q13 in 4 somatotrophinomas derived from non-MEN1 patients with acromegaly.
Gadelha et al. (1999) found loss of heterozygosity of chromosome 11q13 in all pituitary adenomas isolated from affected members of 2 unrelated families with acromegaly. None of the patients had germline mutations in the MEN1 gene, and a somatic mutation was not identified in tumor tissue from 1 patient. Gadelha et al. (1999) concluded that LOH in these affected family members was independent of MEN1 changes and due to another tumor suppressor gene in the 11q13 region.
By linkage analysis of 2 unrelated families with familial isolated somatotropinomas, Gadelha et al. (2000) found linkage to an 8.6-cM region on chromosome 11q13.1-13.3 (maximum 2-point lod scores of 3.0 or more between FGF3 (164950) and D11S1335). Stratakis and Kirschner (2000) recalculated the lod scores for 11q using the germline alleles reported by Gadelha et al. (2000); this analysis yielded 2-point lod scores that were strongly positive, but not conclusive. Stratakis and Kirschner (2000) concluded that LOH at 11q13 was likely to be a tertiary hit at the tumor tissue level.
Using haplotyping and allelotyping techniques to evaluate 8 families with FIS and 15 sporadic somatotropinomas, Soares et al. (2005) narrowed the candidate locus to a 2.21-Mb region on chromosome 11q13.3. LOH at this region was found in all families and in 40% of sporadic tumors. Three potential candidate genes in this region were sequenced, but no mutations were found.
By whole-genome single-nucleotide polymorphism (SNP) genotyping of a large Finnish family with pituitary adenoma predisposition, Vierimaa et al. (2006) found linkage to chromosome 11q12-q13. The results yielded a lod score of 7.1 when combined with a second affected family that shared the linked haplotype. No mutations were identified in the MEN1 gene, which maps to this region.
Molecular Genetics
In affected individuals from a large Finnish family with pituitary adenoma predisposition, Vierimaa et al. (2006) identified a heterozygous germline mutation in the AIP gene (Q14X; 605555.0001). Five individuals had prolactinomas, 4 had somatotropinomas, and 2 had a mixed tumor comprising both cells. Further screening identified this mutation in 6 of 45 patients from a population-based cohort with acromegaly. Affected Italian sibs were found to have an R304X mutation (605555.0003). Loss of heterozygosity at the AIP locus was detected in all 8 pituitary tumors analyzed, including somatotropinomas, prolactinomas, and mixed-type tumors.
In the Brazilian sibs with acromegaly and GH-secreting pituitary adenomas reported by Jorge et al. (2001), Toledo et al. (2007) identified a heterozygous mutation in the AIP gene (605555.0007). A 41-year-old brother with the mutation was clinically unaffected, but was found on imaging to have a small, apparently nonsecreting pituitary nodule. A 3-year-old boy with the mutation was also unaffected, but was younger than the average age at symptom onset.
In 9 of 460 patients from Europe and the U.S. with pituitary adenomas, Georgitsi et al. (2007) identified 9 different germline mutations in the AIP gene (see, e.g., 605555.0004-605555.0006). Eight patients had GH-secreting tumors and acromegaly, and 1, a 26-year-old Polish patient, had Cushing syndrome due to an ACTH-secreting tumor (see 605555.0008). Age at diagnosis ranged from 8 to 41 years.
Daly et al. (2007) studied the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma from 9 different countries. Seventy-three FIPA families were identified, with 156 patients with pituitary adenomas; the FIPA cohort was evenly divided between families with homogeneous and heterogeneous tumor expression. Eleven FIPA families had 10 germline AIP mutations; 9 of the mutations were novel. Tumors were significantly larger (p = 0.0005) and diagnosed at a younger age (p = 0.0006) in AIP mutation-positive versus mutation-negative subjects. Although somatotropinomas predominated among FIPA families with AIP mutations, mixed GH/prolactin-secreting tumors, prolactinomas, and nonsecreting adenomas were also found. Approximately 85% of the FIPA cohort and 50% of those with familial somatotropinomas were negative for AIP mutations.
Barlier et al. (2007) did not identify mutations in the AIP gene in 107 European patients with sporadic pituitary adenomas, including prolactinomas (49), somatotropinomas (26), ACTH-secreting tumors (2), TSH-secreting tumors (1), and nonfunctioning tumors (29). One additional patient with a somatotropinoma was found to have a germline mutation in the AIP gene (R22X; 605555.0009). Barlier et al. (2007) concluded that germline AIP mutations are infrequent in patients with sporadic pituitary adenomas.
Igreja et al. (2010) analyzed the AIP gene in 38 families with FIPA, in which at least 2 family members had pituitary adenoma without features of MEN1 (131100) or Carney complex (see 160980), and identified mutations in 11 of the families, including 3 with large deletions. The authors reviewed the clinical characteristics of these 38 families and 26 previously reported families (Leontiou et al., 2008), confirming that patients with AIP mutations had a lower mean age at diagnosis. Igreja et al. (2010) noted that overall, AIP mutations were implicated in 20 (31%) of the 64 families in their FIPA cohort.
Kamenicky et al. (2015) screened their entire cohort of 263 patients with acromegaly or gigantism for germline mutations in AIP and identified mutations in 8 patients with somatotropinomas (3.0%), 6 (75%) of whom had gigantism. None of the 263 patients carried germline mutations in both GPR101 and AIP.
Pathogenesis
Shimon and Melmed (1997) reviewed the multiple molecular events known at the time that result in pituitary adenomas. These events include early chromosomal mutations (11q13, 13q14 LOH) and possibly expression of pituitary-specific protooncogenes and/or growth factors including GNAS1, CREB (see CREB1; 123810 and CREB2; 123811), HST (see FGF4; 164980) and TGF-alpha (see TGFA; 190170). Subsequent permissive factors allowing clonal expansion of the transformed cell include hypothalamic hormone receptor signals, paracrine growth factor signals, and disordered cell cycle regulation.
In 6 of 14 sparsely granulated human somatotroph adenomas, Asa et al. (2007) identified somatic mutation of codon 49 (H49L or H49R) of the growth hormone receptor gene (GHR; 600946) within an extracellular cysteine-rich immunoglobulin-like loop. In vitro functional studies with mutant rabbit Ghr showed that codon 49 mutations impaired receptor processing, activation, and binding of GH. Mutant Ghr was retained within cytoplasmic granules in the endoplasmic reticulum, and there was relative resistance of mutant Ghr to activation of intracellular signaling by GH. Thus, mutant Ghr showed ineffective sensing of ambient GH and lacked negative feedback on GH production and growth, suggesting another pathogenetic mechanism for a subgroup of pituitary somatotroph adenomas. Asa et al. (2007) noted that the findings were significant for treatment, in that the disruption of GH autoregulation by a GHR mutation in sparsely granulated adenomas renders GHR antagonism a more appropriate therapeutic option than GH antagonism, since the former would be less likely to be associated with treatment-induced tumor activation.
In studies of acromegalics with abnormally high levels of growth hormone, Boguszewski et al. (1997) evaluated the proportion of circulating non-22-kD isoforms of GH and found the proportion was fairly constant in different samples from the same patient, regardless of the GH level. A wide variation of values was observed among acromegalics, both before (14-51%) and after surgery (8-62%). The proportion of non-22-kD GH isoforms was increased in untreated patients, compared with controls (26.6 vs 17.4%; P less than 0.01), and the values correlated significantly to tumor size, mean 24-hour GH concentration, serum PRL, and extracellular water. They concluded that acromegalics have an increased proportion of circulating non-22-kD GH isoforms. Although values are fairly constant in different samples from an individual, a large spectrum can be observed among patients. This variability suggested to Boguszewski et al. (1997) that different pituitary adenomas secrete GH isoforms in variable amounts. Their observation that a higher proportion of non-22-kD GH isoforms is present in patients not truly cured after surgery suggested to the authors that the evaluation of non-22-kD GH isoforms can be useful in the follow-up of acromegalic patients.
History
Chahal et al. (2011) identified the arg304-to-ter mutation in the AIP gene (605555.0003) in DNA extracted from the teeth of an Irish patient with gigantism who lived from 1761 to 1783. This patient's skeleton had been examined by Harvey Cushing, who identified an enlarged pituitary fossa and ascribed his gigantism to a pituitary adenoma. Chahal et al. (2011) also identified this mutation in 4 contemporary northern Irish families who presented with gigantism, acromegaly, or prolactinoma and had the same haplotype. Using coalescent theory, Chahal et al. (2011) inferred that these persons shared a common ancestor who lived about 57 to 66 generations earlier. The skeleton of the patient (Charles Byrne, known as 'The Irish Giant'; Bergland, 1965) is exhibited in the Hunterian Museum of the Royal College of Surgeons in London, near the skeleton of Caroline Crachami (see 210730).
INHERITANCE \- Autosomal dominant \- Somatic mutation GROWTH Height \- Increased height HEAD & NECK Face \- Coarse facial features \- Mandibular enlargement CARDIOVASCULAR Heart \- Cardiomyopathy \- Left ventricular hypertrophy Vascular \- Hypertension CHEST Breasts \- Galactorrhea from increased serum prolactin SKELETAL Hands \- Enlarged hands Feet \- Enlarged feet NEUROLOGIC Central Nervous System \- Anterior pituitary adenoma ENDOCRINE FEATURES \- Acromegaly \- Menstrual irregularities \- Cushing disease due to increased ACTH secretion (less common) NEOPLASIA \- Pituitary adenoma \- Somatotrophinoma \- Prolactinoma LABORATORY ABNORMALITIES \- Increased serum growth hormone levels \- Increased serum IGF1 \- Increased serum prolactin MISCELLANEOUS \- Onset in second or third decades MOLECULAR BASIS \- Caused by mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP, 605555.0001 ) \- Caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, 139320.0008 ) ▲ 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
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
c0346302
| 24,988 |
omim
|
https://www.omim.org/entry/102200
| 2019-09-22T16:45:27 |
{"doid": ["6255"], "mesh": ["D049912"], "omim": ["102200"], "orphanet": ["96256", "314777", "99725", "963"], "synonyms": ["Alternative titles", "SOMATOTROPINOMA, FAMILIAL ISOLATED", "ISOLATED FAMILIAL SOMATOTROPINOMA", "SOMATOTROPHINOMA, FAMILIAL", "ACROMEGALY DUE TO PITUITARY ADENOMA 1", "PAGH1"], "genereviews": ["NBK97965"]}
|
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome.
Clinical Features
Mencarelli et al. (2007) reported a 14-year-old boy with severe mental retardation, absence of speech, sleep disturbances, behavioral problems, and some dysmorphic features. He had macrocephaly, high forehead, thick and coarse hair, thick eyebrows, synophrys, increased inner and outer canthal distance, bifid nasal tip, high palate, micrognathia, dysmorphic right ear, and long and tapering fingers. Array CGH analysis identified a 13-Mb interstitial deletion at chromosome 2q31.2-q32.3. The deletion was confirmed by quantitative PCR.
Monfort et al. (2008) reported a 14-year-old boy with moderate mental retardation associated with a de novo 3.3-Mb interstitial deletion at chromosome 2q31.2 spanning 16 genes. The authors identified a 0.5-Mb overlapping deleted region in their patient and the patient reported by Mencarelli et al. (2007), containing only the ZNF385B gene (612344). Monfort et al. (2008) noted that at birth their patient had neonatal hypertonia and fetal distress. Dysmorphic features included dysplastic ears, micrognathia, high-arched palate, and strabismus. He also had scoliosis, clinodactyly of the fifth finger, partial syndactyly of the second, third and fourth toes, and behavioral disorders including anxiety, anorexia, and head stereotypies. The authors noted that X-linked mental retardation has been associated with other zinc finger proteins, including ZNF41 (314995), ZNF81 (314998), and ZNF674 (300573). Monfort et al. (2008) suggested that loss-of-function mutations in zinc finger genes may play a common role in human cognitive processes.
Prontera et al. (2009) reported a 36-year-old man with a syndromic disorder associated with a de novo heterozygous 13.7-Mb deletion at chromosome 2q31.2-q32.3. He was born at 30 weeks' gestation with birth weight and length greater than the 90th percentile, and later showed developmental delay. At age 36 years, he had severe mental retardation and behavioral problems with occasional episodes of hyperactivity, chaotic movements, and aggression. Physical features included facial asymmetry, scaphocephaly, receding frontal bone with triangular anterior hair implantation, thick and coarse hair, prominent supraorbital ridges, thick eyebrows, synophrys, proptosis, long nose, thin nasal bridge, anteverted nares, high narrow palate, bifid uvula, small teeth, receding chin, low-set posteriorly rotated long ears with prominent antihelix, short neck, pectus excavatum, scoliosis, and macroorchidism. Other features included tapering fingers, sandal gap of the toes, and hypoplastic metatarsals. He had good muscular definition and strength, mainly in the legs and calves. Cytogenetic analysis also showed an apparently balanced de novo pericentric inversion of chromosome 8 (inv(8)(p11.2q21.2)) that was not thought to contribute to the phenotype. Prontera et al. (2009) noted the similarities to the patient reported by Mencarelli et al. (2007) who had a similar deletion of chromosome 2q31.2.
*[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
|
CHROMOSOME 2q31.2 DELETION SYNDROME
|
c2676724
| 24,989 |
omim
|
https://www.omim.org/entry/612345
| 2019-09-22T16:01:48 |
{"mesh": ["C567344"], "omim": ["612345"]}
|
Range of neurodevelopmental conditions
Tic disorder
Play media
Examples of tics
SpecialtyNeurology, psychiatry
Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic movements).[1] Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).[2]
## Contents
* 1 Classification
* 1.1 DSM-5
* 1.2 ICD-10
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 History
* 5.1 DSM-IV-TR
* 5.2 From DSM-IV-TR to DSM-5
* 6 References
* 7 External links
## Classification[edit]
### DSM-5[edit]
The fifth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), published in May 2013, classifies Tourette syndrome and tic disorders as motor disorders listed in the neurodevelopmental disorder category.[3]
Tic disorders, in ascending order of severity, are:[3]
* 307.20 Other specified tic disorder (specify reason)
* 307.20 Unspecified tic disorder
* 307.21 Provisional tic disorder
* 307.22 Persistent (chronic) motor or vocal tic disorder (specify motor or vocal)
* 307.23 Tourette's disorder
Developmental coordination disorder and stereotypic movement disorder are also classified as motor disorders.[4][5]
### ICD-10[edit]
ICD10 diagnosis codes are:[6]
* F95.0 Transient tic disorder
* F95.1 Chronic motor or vocal tic disorder
* F95.2 Combined vocal and multiple motor tic disorder [Gilles de la Tourette]
* F95.8 Other tic disorders
* F95.9 Tic disorder, unspecified
## Diagnosis[edit]
Further information: Tic § Differential diagnosis
Tics should be distinguished from other causes of tourettism, stereotypies, chorea, dyskinesias, myoclonus and obsessive-compulsive disorder.[3]
## Treatment[edit]
Education, and a "watch and wait" strategy, are the only treatment needed for many, and the majority of individuals with tics do not seek treatment. When needed, management of tic disorders is similar to management of Tourette syndrome.[7]
## Epidemiology[edit]
Tic disorders are more common among males than females.[3]
At least one in five children experience some form of tic disorder, most frequently between the ages of seven and twelve.[8][9] As many as 1 in 100 people may experience some form of tic disorder, usually before the onset of puberty.[10] Tourette syndrome is the more severe expression of a spectrum of tic disorders, which are thought to be due to the same genetic vulnerability. Nevertheless, most cases of Tourette syndrome are not severe. Although a significant amount of investigative work indicates genetic linkage of the various tic disorders, further study is needed to confirm the relationship.[11]
## History[edit]
### DSM-IV-TR[edit]
In the fourth revision of the DSM (DSM-IV-TR), tic disorders were classified as follows:[12]
* Transient tic disorder consisted of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
* Chronic tic disorder was either single or multiple motor or phonic tics, but not both, which were present for more than a year.
* Tourette syndrome was diagnosed when both motor and phonic tics were present for more than a year.
* Tic disorder NOS was diagnosed when tics were present, but did not meet the criteria for any specific tic disorder.
### From DSM-IV-TR to DSM-5[edit]
DSM-5 was published in 2013, updating DSM-IV-TR, which was published in 2000. The following changes were made:[3][13][14][4]
* The word stereotyped was removed from tic definition: stereotypies and stereotypic movement disorder are frequently misdiagnosed as tics or Tourette syndrome.[15] The definition of tic was made consistent for all tic disorders, and the word stereotyped was removed to help distinguish between stereotypies (common in autism spectrum disorders) and tic disorders.[16]
* Provisional tic disorder approximately replaced transient tic disorder: because initially presenting tics may eventually be diagnosed as chronic tic disorder or Tourette's, transient suggested it could only be defined in retrospect (though that perception did not follow the DSM-IV-TR definition).[8] The term provisional "satisfies experts with a more systematic epidemiological approach to disorders", but should not imply that treatment might not be called for.[16]
* Differentiation of chronic motor or vocal tic disorder: DSM-5 added a specifier to distinguish between vocal and motor tics that are chronic. This distinction was added because higher rates of comorbid diagnoses are present with vocal tics relative to motor tics.[16]
* Now includes as Tourette's Disorder patients with tics who experienced a 3-month or longer remission since the first tic, as long as the first tic was at least a year ago.
* Stimulant use as a cause removed: there is no evidence that the use of stimulants causes tic disorders.[16][17]
* New categories, Other specified and Unspecified: for tic disorders that result in significant impairment to the individual yet do not meet the full criteria for other tic disorders.[3] The new categories account for tics with onset in adulthood,[3] or tics triggered by other medical conditions or illicit drug use.[16]
## References[edit]
1. ^ American Psychiatric Association (2000). DSM-IV-TR: Tourette's Disorder. Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision (DSM-IV-TR), ISBN 0-89042-025-4. Available at BehaveNet.com Retrieved on August 10, 2009.
2. ^ Swain JE, Scahill L, Lombroso PJ, King RA, Leckman JF. "Tourette syndrome and tic disorders: a decade of progress". J Am Acad Child Adolesc Psychiatry. 2007 Aug;46(8):947–68 doi:10.1097/chi.0b013e318068fbcc PMID 17667475
3. ^ a b c d e f g American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. pp. 81–85. ISBN 978-0-89042-555-8.
4. ^ a b "Highlights of changes from DSM-IV-TR to DSM-5" (PDF). American Psychiatric Association. 2013. Archived from the original (PDF) on February 3, 2013. Retrieved June 5, 2013.
5. ^ Robertson MM, Eapen V (October 2014). "Tourette's: syndrome, disorder or spectrum? Classificatory challenges and an appraisal of the DSM criteria" (PDF). Asian J Psychiatr (Review). 11: 106–13. doi:10.1016/j.ajp.2014.05.010. PMID 25453712.
6. ^ ICD Version 2006. World Health Organization. Retrieved on 2007-05-24.
7. ^ Roessner V1, Plessen KJ, Rothenberger A, et al. "European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment". Eur Child Adolesc Psychiatry. 2011 Apr;20(4):173-96. PMID 21445724.
8. ^ a b Black KJ, Black ER, Greene DJ, Schlaggar BL. Provisional Tic Disorder: What to tell parents when their child first starts ticcing. F1000Research 2016, 5:696 doi:10.12688/f1000research.8428.1
9. ^ Tourette Syndrome Fact Sheet. National Institutes of Health (NIH). Retrieved on 2005-03-23.
10. ^ Tourette Syndrome Fact Sheet. National Institutes of Health (NIH). Retrieved on 2005-03-23.
11. ^ Swerdlow NR. "Tourette syndrome: current controversies and the battlefield landscape". Current Neurology and Neuroscience Reports. 5 (5): 329-31. doi:10.1007/s11910-005-0054-8 PMID 16131414
12. ^ Evidente VG. "Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders". Postgraduate medicine. 108 (5): 175-6, 179-82. PMID 11043089 Retrieved on 2007-05-24
13. ^ Neurodevelopmental disorders. American Psychiatric Association. Retrieved on December 29, 2011.
14. ^ Moran, M. "DSM-5 provides new take on neurodevelopment disorders". Psychiatric News. January 18, 2013;48(2):6–23. doi:10.1176/appi.pn.2013.1b11
15. ^ Ellis CR, Pataki C. "Background: Childhood Habit Behaviors and Stereotypic Movement Disorder". Medscape. Retrieved October 6, 2013.
16. ^ a b c d e Plessen KJ. Tic disorders and Tourette's syndrome. Eur Child Adolesc Psychiatry. 2013 Feb;22 Suppl 1:S55–60. doi:10.1007/s00787-012-0362-x
17. ^ Black, KJ. ADHD medications and tics. February 17, 2018. tics.wustl.edu/adhd-medications-and-tics/
## External links[edit]
Classification
D
* ICD-10: F95
* ICD-9-CM: 307.2
* MeSH: D013981
* DiseasesDB: 29465
* SNOMED CT: 35042001
External resources
* eMedicine: neuro/664
* The Tourette Syndrome Classification Study Group. "Definitions and classification of tic disorders". Arch Neurol. 1993 Oct;50(10):1013-6. PMID 8215958. Retrieved on 2005-03-22
* Walkup JT, Ferrão Y, Leckman JF, Stein DJ, Singer H. Tic disorders: some key issues for DSM-V (PDF). Depress Anxiety. 2010 Jun;27(6):600–10. PMID 20533370 doi:10.1002/da.20711
* v
* t
* e
Tourette syndrome
Main
* Causes and origins
* History
* Societal and cultural aspects
* Management
Terms
* Coprolalia
* Copropraxia
* Echolalia
* Echophenomenon
* Echopraxia
* Palilalia
* Palipraxia
* PANDAS
* Premonitory urge
* Sensory phenomena
* Tic
* Tic disorder
* Tourettism
People
* Jean-Martin Charcot
* Donald J. Cohen
* Georges Gilles de la Tourette
* Tim Howard
* Jean Marc Gaspard Itard
* Samuel Johnson
* James F. Leckman
* Arthur K. Shapiro
Organizations
* Tourette Association of America
* Tourette Canada
* Tourettes Action
* Yale Child Study Center
Media
* Front of the Class
* Hichki
* I Have Tourette's but Tourette's Doesn't Have Me
* John's Not Mad
* "Le Petit Tourette"
* Maze
* Motherless Brooklyn
* Quit It
* The Secret Life of Lele Pons
* The Tic Code
* Tic Talk: Living with Tourette Syndrome
* v
* t
* e
Emotional and behavioral disorders
Emotional/behavioral
* ADHD
* Conduct disorder
* Oppositional defiant disorder
* Emotional/behavioral disorder (EBD)
* Separation anxiety
* Social functioning
* Selective mutism
* RAD
* DAD
* Tic disorders
* Tourette syndrome
* Speech disorders
* Stuttering
* Cluttering
* Stereotypic movement disorder
* Elimination disorders
* Enuresis
* Encopresis
Authority control
* GND: 4185414-7
* NDL: 00576519
*[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
|
Tic disorder
|
c0040188
| 24,990 |
wikipedia
|
https://en.wikipedia.org/wiki/Tic_disorder
| 2021-01-18T18:28:57 |
{"mesh": ["D013981"], "umls": ["C0040188"], "wikidata": ["Q1077139"]}
|
## Clinical Features
Selcen et al. (2002) described a sister and brother with adult-onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Both had lifelong limitation of neck motions, and both developed progressive dyspnea and mild-to-moderately severe limb muscle weakness in the fifth decade of life. The sister was hyporeflexic; the brother was areflexic and had mild distal sensory deficit for pain and light touch. In both patients, radiographs of the cervical spine showed a decreased anteroposterior diameter of the cervical vertebral bodies, fusion of the midcervical facet joints, and widening of the cervical spinal canal. The son of the sister had limited cervical spine motions but no weakness at age 22 years. Electromyography indicated myopathy and findings consistent with neuropathy in both patients. Muscle biopsies revealed that myriad type-1 fibers harbored large, irregularly polygonal, and mostly central hyaline masses, small vacuoles, and nemaline rods flanking the hyaline masses or congregated under the sarcolemma. The hyaline masses were intensely congophilic; reacted strongly for desmin (125660), alpha/beta-crystallin (see 123610), alpha-1-antichymotrypsin (107280), and ubiquitin (191339), and variably for gelsolin (137350) and dystrophin (300377); and were devoid of alpha-actinin (see 102575), nebulin (161650), titin (188840), and slow myosin (see 160760). The constituency of the hyaline masses signaled nonlysosomal protein degradation. Ultrastructurally, the hyaline masses resembled the hyaline structures of myofibrillar myopathy. Selcen et al. (2002) concluded that the pathologic process in this syndrome is one that induces destruction of myofibrillar components, resulting in aggregation of the degraded residues in hyaline masses, and causing replication of Z disks and formation of nemaline rods.
Selcen et al. (2002) considered the disorder in their patients distinct from reported cases of nemaline myopathy (see 161800) with cardiomyopathy because hyaline masses in muscle, evidence of peripheral neuropathy, and cervical spine anomalies were absent in these cases. They also thought it was distinct from reported cases of myopathy with rods and cores (see 117000) and with myofibrillar myopathy.
INHERITANCE \- Isolated cases HEAD & NECK Neck \- Limitation of neck motion CARDIOVASCULAR Heart \- Cardiomyopathy \- Global systolic dysfunction RESPIRATORY Lung \- Respiratory insufficiency \- Dyspnea, progressive SKELETAL Spine \- Cervical vertebral bodies with decreased anteroposterior diameter \- Fusion of midcervical facet joints \- Widening of cervical spinal canal MUSCLE, SOFT TISSUES \- Type I fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation NEUROLOGIC Central Nervous System \- Limb muscle weakness (distal greater than proximal) \- Hyporeflexia/areflexia \- Mild distal sensory deficits \- EMG shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials MISCELLANEOUS \- Onset of symptoms in fifth decade ▲ 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
|
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
|
c1847387
| 24,991 |
omim
|
https://www.omim.org/entry/606842
| 2019-09-22T16:09:59 |
{"mesh": ["C564655"], "omim": ["606842"]}
|
Sebaceous lymphadenoma
High magnification micrograph of a sebaceous lymphadenoma. H&E stain.
SpecialtyENT surgery
Sebaceous lymphadenoma is a benign tumour of the salivary gland.[1]
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 See also
* 4 References
* 5 External links
## Diagnosis[edit]
Sebaceous lymphadenoma is a tissue diagnosis, e.g. salivary gland biopsy.
It may be confused with a number of benign and malignant neoplasms, including Warthin tumour, mucoepidermoid carcinoma and sebaceous lymphadenocarcinoma.[2]
## Treatment[edit]
The treatment is simple excision and exclusion of a malignant neoplasm.
## See also[edit]
* Lymph node
* Lymphoma
* Salivary gland neoplasm
## References[edit]
1. ^ Mishra, A.; Tripathi, K.; Mohanty, L.; Nayak, M. "Sebaceous lymphadenoma of the parotid gland". Indian J Pathol Microbiol. 54 (1): 131–2. doi:10.4103/0377-4929.77364. PMID 21393895.
2. ^ While, B.; Whiteside, OJ.; Desai, V.; Gurr, P. (Aug 2010). "Sebaceous lymphadenoma: a case report and review of the literature". Ear Nose Throat J. 89 (8): E22-3. PMID 20737364.
## External links[edit]
Classification
D
*[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
|
Sebaceous lymphadenoma
|
c4518582
| 24,992 |
wikipedia
|
https://en.wikipedia.org/wiki/Sebaceous_lymphadenoma
| 2021-01-18T19:06:26 |
{"wikidata": ["Q7442321"]}
|
Endocrine bone disease
SpecialtyEndocrinology, rheumatology
An endocrine bone disease is a bone disease associated with a disorder of the endocrine system.[1] An example is osteitis fibrosa cystica.[citation needed]
## Contents
* 1 Mechanism
* 2 Diagnosis
* 3 Management
* 4 Epidemiology
* 5 References
* 6 External links
## Mechanism[edit]
The thyroid, parathyroid, pituitary, or adrenal glands, and the pancreas are parts of the endocrine system, and, therefore are associated with the endocrine bone disease.[2] Some common endocrine disorders are hypothyroidism, hyperthyroidism, Paget’s disease,[1] Osteoporosis, and diabetes.[3] The thyroid gland produces thyroxin (T3, and T4) which is necessary for normal development of the nervous system. Its functions include: promoting growth, increasing basal metabolic rate and controlling body temperature.[3] Adequate iodine intake is necessary for the production of thyroid hormone. According to Payton R. G. et al., a common disorder of the thyroid gland is hypothyroidism, which is more prevalent in women than in men. Symptoms of hypothyroidism include cold intolerance, weight gain, fatigue, anemia, difficulty concentrating, amenorrhea, bradycardia (low heart rate) and goiter.[2] Another hormone that is secreted by Para follicular cells of the thyroid gland is calcitonin.[2] Calcitonin works in an antagonistic fashion with parathyroid hormone (PTH): both regulate the level of calcium in the blood.[3] Blood calcium level is tightly regulated by these two hormones. The cells of our bone that is involved in bone formation and bone breakdown is osteoblast and osteoclast respectively. Osteoclasts are cells of bones that promote bone demineralization or bone resorption.[3] In contrast, Osteoblast promotes calcium absorption by the bone therefore, promoting bone mineralization and formation of new bones.[2] Thus Calcitonin activates osteoblasts, therefore decrease blood calcium levels by decreasing bone breakdown (resorption) by inhibiting osteoclast. Whereas, PTH activates osteoclast and thereby increases blood calcium. The hormone produced by the thyroid gland has big impact on bone density, blood calcium levee. Abnormalities of the thyroid gland impact bone disease such as osteoporosis, a condition that is common in women but men can be diagnosed with this silent disease as well as it mainly affects elderly individual.[citation needed]
In addition to the thyroid gland, Vitamin D plays a crucial role in the absorption of calcium.[2] In fact, Vitamin D is needed for efficient absorption of calcium and therefore proper bone health.[2] Vitamin D is a fat-soluble vitamin, as well, it is unique because it is considered as a hormone; synthesized endogenously in the liver in form of Cholecalciferol.[2] The endogenous inactive form of Vitamin D is Cholecalciferol or Vitamin D3 which is converted to active form of Vitamin D–Calcitriol also known as 1, 25-Dihydroxycholecalciferol in the Kidney upon exposure to UV ray of sun light.[2] Deficiency in Vitamin D or renal disease contributes to bone disorder such as in Osteomalacia in adult and Rickets in children.[2] Osteomalacia is the softening of bones due to poor bone mineralization which is in turn due to poor calcium absorption.[2] Ultimately, these hormonal changes in body; such as function of thyroid, parathyroid, liver and kidney disrupts metabolic changes as well as function of specific organs, which in turn leads to condition that are not desirable such as bone disorders or other endocrine related diseases.[3]
## Diagnosis[edit]
Bone disease is common among the elderly individual, but adolescents can be diagnosed with this disorder as well. There are many bone disorders such as osteoporosis, Paget's disease, hypothyroidism.[2] Although there are many forms of bone disorders, they all have one thing in common; abnormalities of specific organs involved, deficiency in vitamin D or low Calcium in diet, which results in poor bone mineralization.[2]
## Management[edit]
This section is empty. You can help by adding to it. (December 2017)
## Epidemiology[edit]
Endocrine disorder is more common in women than men, as it is associated with menstrual disorders.[2]
## References[edit]
1. ^ a b Joplin, GF (1973). "Endocrine bone disease". Proceedings of the Royal Society of Medicine. 66 (5): 447. doi:10.1177/003591577306600516. PMC 1644927. PMID 4716299.
2. ^ a b c d e f g h i j k l m Mailhot, Geneviève; Petit, Jean-Luc; Dion, Natalie; Deschênes, Claire; Ste-Marie, Louis-Georges; Gascon-Barré, Marielle (2007). "Endocrine and bone consequences of cyclic nutritional changes in the calcium, phosphate and vitamin D status in the rat". Bone. 41 (3): 422–36. doi:10.1016/j.bone.2007.04.199. PMID 17617234.
3. ^ a b c d e Payton, Ruth G.; Gardner, Roxane; Reynolds, Dianne (1997). "Pharmacologic considerations and management of common endocrine disorders in women". Journal of Nurse-Midwifery. 42 (3): 186–206. doi:10.1016/S0091-2182(97)00024-4. PMID 9239969.
## External links[edit]
Classification
D
* MeSH: D001849
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner 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
|
Endocrine bone disease
|
c0005942
| 24,993 |
wikipedia
|
https://en.wikipedia.org/wiki/Endocrine_bone_disease
| 2021-01-18T18:56:23 |
{"mesh": ["D001849"], "wikidata": ["Q5376307"]}
|
Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.
## Frequency
The prevalence of sensorineural deafness and male infertility is unknown.
## Causes
Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.
### Learn more about the genes and chromosome associated with Sensorineural deafness and male infertility
* CATSPER2
* STRC
* chromosome 15
## Inheritance Pattern
Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition.
Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.
*[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
|
Sensorineural deafness and male infertility
|
c1970187
| 24,994 |
medlineplus
|
https://medlineplus.gov/genetics/condition/sensorineural-deafness-and-male-infertility/
| 2021-01-27T08:25:37 |
{"gard": ["11911"], "mesh": ["C567010"], "omim": ["611102"], "synonyms": []}
|
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
## Epidemiology
Birth prevalence is estimated at approximately 1/30,000, accounting for about 8% of all craniosynostoses and over 25% of cases with an identified genetic cause.
## Clinical description
Muenke syndrome (MS) patients show a wide range of clinical findings, even within a single family. Most have coronal synostosis (more frequently bilateral), however, synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly (turribrachycephaly/cloverleaf skull are also possible) with temporal bossing and facial symmetry. Unilateral coronal synostosis results in plagiocephaly with facial asymmetry, frontal bossing, eyebrow elevation, anterior placement of the ear, and midface retrusion. Over 15% of mutation-positive individuals do not have premature fusion of the skull, but may or may not have other associated clinical findings. Craniofacial findings include: widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of, usually mild, hearing loss (sensorineural being the most common, followed by conductive and mixed). Neurologic complications such as elevated intracranial pressure and hydrocephalus can occur, especially when two or more sutures are prematurely fused. Additional extracranial manifestations include: otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay, intellectual disability (often mild), epilepsy, and/or increased risk for behavioral problems, including adaptive behavior.
## Etiology
MS is due to a mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development.
## Diagnostic methods
Molecular genetic testing identifying a p.Pro250Arg mutation in FGFR3 confirms diagnosis. Suture involvement and the presence of hydrocephalus can be visualized by radiography, 3D computed tomography, and MRI. Characteristic extracranial radiographic features include: fusion of the carpal and tarsal bones, short and broad (''thimble-like'') middle phalanges of the hands and feet, and epiphyseal coning.
## Differential diagnosis
Differential diagnoses include other types of syndromic craniosynostosis such as Crouzon and Saethre-Chotzen syndromes and Pfeiffer syndrome type 1.
## Antenatal diagnosis
Prenatal diagnosis is possible in families with a known disease-causing mutation. Prenatal ultrasound examination may be used as an adjunct to prenatal genetic testing.
## Genetic counseling
Inheritance is autosomal dominant and genetic counseling can inform a parent with MS of their 50% risk of passing on the pathogenic variant to future offspring.
## Management and treatment
Management of MS should be multidisciplinary. Patients should be tested for hearing loss and be subsequently monitored, even if initial evaluation is normal. Developmental and behavioral assessments, eye exams, speech therapy and/or special education should be evaluated on a case-by-case basis. Surgical management is offered based on craniosynostosis severity. Typically, an initial craniosynostosis repair (usually at 3-6 months of age), that consists of fronto-orbital advancement and cranial vault remodeling, is performed. A secondary (or tertiary) transcranial repair, with or without extracranial contouring, may be needed. Endoscopic strip craniectomy is a newer and less invasive procedure, usually performed before the age of 3 months.
## Prognosis
The prognosis is variable. Good outcomes are observed if patients receive early surgical reconstruction (based on severity), as well as early and continued medical management of the neurologic, auditory, ocular, developmental and behavioral manifestations. Life-expectancy is 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
|
Muenke syndrome
|
c1864436
| 24,995 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53271
| 2021-01-23T17:03:48 |
{"gard": ["7097"], "mesh": ["C537369"], "omim": ["602849"], "umls": ["C1864436"], "icd-10": ["Q87.0"]}
|
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
When GSD IX affects the liver, the signs and symptoms typically begin in early childhood. The initial features are usually an enlarged liver (hepatomegaly) and slow growth. Affected children are often shorter than normal. During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Affected children may have delayed development of motor skills, such as sitting, standing, or walking, and some have mild muscle weakness. Puberty is delayed in some adolescents with GSD IX. In the form of the condition that affects the liver, the signs and symptoms usually improve with age. Typically, individuals catch up developmentally, and adults reach normal height. However, some affected individuals have a buildup of scar tissue (fibrosis) in the liver, which can rarely progress to irreversible liver disease (cirrhosis).
GSD IX can affect muscle tissue, although this form of the condition is very rare and not well understood. The features of this form of the condition can appear anytime from childhood to adulthood. Affected individuals may experience fatigue, muscle pain, and cramps, especially during exercise (exercise intolerance). Most affected individuals have muscle weakness that worsens over time. GSD IX can cause myoglobinuria, which occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin that is excreted in the urine. Myoglobinuria can cause the urine to be red or brown.
In a small number of people with GSD IX, the liver and muscles are both affected. These individuals develop a combination of the features described above, although the muscle problems are usually mild.
## Frequency
GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.
## Causes
Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. At least two different versions of phosphorylase b kinase are formed from the subunits: one is most abundant in liver cells and the other in muscle cells.
The PHKA1 and PHKA2 genes provide instructions for making alpha subunits of phosphorylase b kinase. The protein produced from the PHKA1 gene is a subunit of the muscle enzyme, while the protein produced from the PHKA2 gene is part of the liver enzyme. The PHKB gene provides instructions for making the beta subunit, which is found in both the muscle and the liver. The PHKG2 gene provides instructions for making the gamma subunit of the liver enzyme.
Whether in the liver or the muscles, phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance to maintain normal levels of glucose in the blood between meals or for energy during exercise. Phosphorylase b kinase turns on (activates) the enzyme that breaks down glycogen.
Although the effects of gene mutations on the respective protein subunits are unknown, mutations in the PHKA1, PHKA2, PHKB, and PHKG2 genes reduce the activity of phosphorylase b kinase in liver or muscle cells and in blood cells. Reduction of this enzyme's function impairs glycogen breakdown. As a result, glycogen accumulates in and damages cells, and glucose is not available for energy. Glycogen accumulation in the liver leads to hepatomegaly, and the liver's inability to break down glycogen for glucose contributes to hypoglycemia and ketosis. Reduced energy production in muscle cells leads to muscle weakness, pain, and cramping.
### Learn more about the genes associated with Glycogen storage disease type IX
* PHKA1
* PHKA2
* PHKB
* PHKG2
## Inheritance Pattern
GSD IX can have different inheritance patterns depending on the genetic cause of the condition.
When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, some women with one altered copy of the PHKA2 gene have signs and symptoms of GSD IX, such as mild hepatomegaly or short stature in childhood. These features are usually mild but can be more severe in rare cases. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
When the condition is caused by mutations in the PHKB or PHKG2 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of 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
|
Glycogen storage disease type IX
|
c1844412
| 24,996 |
medlineplus
|
https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix/
| 2021-01-27T08:25:19 |
{"mesh": ["C564421"], "omim": ["306000", "261750", "613027", "300559"], "synonyms": []}
|
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
## Epidemiology
The syndrome has been described in seven children.
## Etiology
It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
*[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
|
DPM1-CDG
|
c1837396
| 24,997 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79322
| 2021-01-23T18:53:14 |
{"gard": ["9831"], "mesh": ["C535743"], "omim": ["608799"], "umls": ["C1837396"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Ie", "CDG-Ie", "CDG1E", "Carbohydrate deficient glycoprotein syndrome type Ie", "Congenital disorder of glycosylation type 1e", "Congenital disorder of glycosylation type Ie", "Dol-P-mannosyltransferase deficiency"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-14 (ARCI14) is caused by homozygous or compound heterozygous mutation in the SULT2B1 gene (604125) on chromosome 19q13.
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Clinical Features
Heinz et al. (2017) studied 6 patients from 3 unrelated families with congenital ichthyosis. Three brothers from a consanguineous Tunisian family were born as collodion babies and had hyperkeratosis and generalized desquamation with large dark scales typical of lamellar ARCI. A female patient from a Turkish family was also born with collodion membrane and exhibited hyperkeratosis and erythema. A brother and sister from a consanguineous Kurdish family were not born as collodion babies; they showed generalized dry scaly skin with severe itching and erythema at birth. Thicker dry scaly grayish skin was present on areas exposed to increased mechanical stress, including the elbows, knees, and dorsal feet and hands. The itching, and to some extent the scaling, improved with age. Most of the patients showed mild to no involvement of the skin of the face, axillae, popliteal fossae, and back, and none had extracutaneous abnormalities. Histologic analysis of affected skin from the Kurdish brother showed pronounced hyperkeratosis with a compact orthokeratotic cornified layer and a prominent granular layer in the epidermis. Blood vessels extended to epidermal layers accompanied by perivascular lymphocytic infiltrates, indicating inflammatory processes within the epidermis. Electron microscopy of affected skin from the Kurdish sister revealed more than 30 layers of lamellae in the horny layer, with a loose keratin pattern and some lipid droplets in upper cell layers, as well as considerable amounts of small vacuolar inclusions and seemingly irregularly processed lamellar body content in lower horny cells layers; the horny layer of healthy skin was homogeneous. Tonofilaments, keratohyalin granules, and lamellar bodies exhibited normal morphology.
Molecular Genetics
In 6 patients from 3 unrelated families with ARCI, Heinz et al. (2017) identified homozygosity or compound heterozygosity for mutations in the SULTB21 gene (604125.0001-604125.0004). The authors stated that in their cohort of 577 families with ARCI, approximately 0.52% of individuals carried mutations in SULT2B1.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Generalized desquamation \- Dry scaly skin \- Large dark scales (thicker in areas of mechanical stress) \- Hyperkeratosis \- Erythema \- Pruritus Skin Histology \- Hyperkeratosis \- Massive orthokeratotic cornified layer \- Prominent granular layer \- Blood vessels in epidermal layers \- Perivascular lymphocytic infiltrations \- Eosinophilic granulocytes in stratum spinosum Electron Microscopy \- Variable electron densities of horny material \- Small vesicular inclusions in horny layer MISCELLANEOUS \- Relative sparing of axillae, popliteal fossae, back, and part of the soles \- Collodion membrane at birth (in some patients) \- Gradual improvement in pruritus and scaling with age MOLECULAR BASIS \- Caused by mutation in the sulfotransferase family 2B, member 1 gene (SULT2B1, 604125.0001 ) ▲ 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
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
|
c4539754
| 24,998 |
omim
|
https://www.omim.org/entry/617571
| 2019-09-22T15:45:34 |
{"doid": ["0080258"], "mesh": ["D017490"], "omim": ["617571"], "icd-10": ["Q80.2"], "orphanet": ["313"], "synonyms": ["Classic lamellar ichthyosis", "Congenital lamellar ichthyosis", "LI"]}
|
Familial male-limited precocious puberty
Other namesFamilial sexual precocity
Male-limited precocious puberty has an autosomal dominant pattern of inheritance. However, only males are affected; females with the mutant gene are not affected.
Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis,[1] is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty.[2] Signs of puberty can develop as early as an age of 1 year.
The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant[1] condition with a mutation of the luteinizing hormone (LH) receptor. Treatment is with drugs that suppress gonadal steroidogenesis, such as cyproterone acetate, ketoconazole, spironolactone, and testolactone.[3] Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used.[4]
## See also[edit]
* Follicle-stimulating hormone insensitivity
* Gonadotropin-releasing hormone insensitivity
* Hypergonadism, hyperandrogenism, and precocious puberty
* Inborn errors of steroid metabolism
* Leydig cell hypoplasia (or LH insensitivity)
## References[edit]
1. ^ a b Online Mendelian Inheritance in Man (OMIM): 176410
2. ^ Traggiai C, Stanhope R (2003). "Disorders of pubertal development". Best Pract Res Clin Obstet Gynaecol. 17 (1): 41–56. doi:10.1053/ybeog.2003.0360. PMID 12758225.
3. ^ Reiter EO, Norjavaara E (2005). "Testotoxicosis: current viewpoint". Pediatr Endocrinol Rev. 3 (2): 77–86. PMID 16361981.
4. ^ Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z (Sep 2006). "Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole". The Journal of Pediatrics. 149 (3): 416–20. doi:10.1016/j.jpeds.2006.04.027. PMID 16939760.
## External links[edit]
* Testotoxicosis at NIH's Office of Rare Diseases
Classification
D
* ICD-10: E30.1
* OMIM: 176410
* MeSH: C536961
External resources
* Orphanet: 3000
* v
* t
* e
Gonadal disorder
Ovarian
* Polycystic ovary syndrome
* Premature ovarian failure
* Estrogen insensitivity syndrome
* Hyperthecosis
Testicular
Enzymatic
* 5α-reductase deficiency
* 17β-hydroxysteroid dehydrogenase deficiency
* aromatase excess syndrome
Androgen receptor
* Androgen insensitivity syndrome
* Familial male-limited precocious puberty
* Partial androgen insensitivity syndrome
Other
* Sertoli cell-only syndrome
General
* Hypogonadism
* Delayed puberty
* Hypergonadism
* Precocious puberty
* Hypoandrogenism
* Hypoestrogenism
* Hyperandrogenism
* Hyperestrogenism
* Postorgasmic illness syndrome
* Cytochrome P450 oxidoreductase deficiency
* Cytochrome b5 deficiency
* Androgen-dependent condition
* Aromatase deficiency
* Complete androgen insensitivity syndrome
* Mild androgen insensitivity syndrome
* Hypergonadotropic hypogonadism
* Hypogonadotropic hypogonadism
* Fertile eunuch syndrome
* Estrogen-dependent condition
* Premature thelarche
* Gonadotropin insensitivity
* Hypergonadotropic hypergonadism
* v
* t
* e
Cell surface receptor deficiencies
G protein-coupled receptor
(including hormone)
Class A
* TSHR (Congenital hypothyroidism 1)
* LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
* FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
* GnRHR (Gonadotropin-releasing hormone insensitivity)
* EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
* AVPR2 (Nephrogenic diabetes insipidus 1)
* PTGER2 (Aspirin-induced asthma)
Class B
* PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C
* CASR (Familial hypocalciuric hypercalcemia)
Class F
* FZD4 (Familial exudative vitreoretinopathy 1)
Enzyme-linked receptor
(including
growth factor)
RTK
* ROR2 (Robinow syndrome)
* FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
* FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
* FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
* INSR (Donohue syndrome
* Rabson–Mendenhall syndrome)
* NTRK1 (Congenital insensitivity to pain with anhidrosis)
* KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
STPK
* AMHR2 (Persistent Müllerian duct syndrome II)
* TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
* TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
GC
* GUCY2D (Leber's congenital amaurosis 1)
JAK-STAT
* Type I cytokine receptor: GH (Laron syndrome)
* CSF2RA (Surfactant metabolism dysfunction 4)
* MPL (Congenital amegakaryocytic thrombocytopenia)
TNF receptor
* TNFRSF1A (TNF receptor associated periodic syndrome)
* TNFRSF13B (Selective immunoglobulin A deficiency 2)
* TNFRSF5 (Hyper-IgM syndrome type 3)
* TNFRSF13C (CVID4)
* TNFRSF13B (CVID2)
* TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
Lipid receptor
* LRP: LRP2 (Donnai–Barrow syndrome)
* LRP4 (Cenani–Lenz syndactylism)
* LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
* LDLR (LDLR Familial hypercholesterolemia)
Other/ungrouped
* Immunoglobulin superfamily: AGM3, 6
* Integrin: LAD1
* Glanzmann's thrombasthenia
* Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
* PTCH1 (Nevoid basal-cell carcinoma syndrome)
* BMPR1A (BMPR1A juvenile polyposis syndrome)
* IL2RG (X-linked severe combined immunodeficiency)
See also
cell surface receptors
This genetic disorder 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
|
Familial male-limited precocious puberty
|
c0342549
| 24,999 |
wikipedia
|
https://en.wikipedia.org/wiki/Familial_male-limited_precocious_puberty
| 2021-01-18T19:08:39 |
{"gard": ["4475"], "mesh": ["C536961"], "umls": ["C0342549", "C1504412"], "orphanet": ["3000"], "wikidata": ["Q5432947"]}
|
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