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A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cutis laxa-Marfanoid syndrome
|
c0432335
| 7,600 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171719
| 2021-01-23T16:55:07 |
{"mesh": ["C563639"], "omim": ["614100"], "umls": ["C0432335"]}
|
Hemoglobin (Hb) Zurich is an inherited blood disorder. People with Hb Zurich have an abnormal form of Hb, a red blood cell (RBC) protein that binds to oxygen in the lungs. This abnormal Hb more readily binds to carbon monoxide (producing carboxyhemoglobin or COHb). Normally the level of COHb is less than 1-2% in adults. People with Hb Zurich tend to have COHb levels above 3%. The health effects of Hb Zurich tend to be mild compared to other inherited blood cell disorders. Symptoms usually develop only when the body is stressed due to an infection or fever or when exposed to certain drugs. Symptoms develop as a result of the premature breakdown of RBC (hemolytic anemia). Click here to visit MedlinePlus.gov and view an illustration of hemoglobin.
*[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
|
Hemoglobin Zurich
|
c3890418
| 7,601 |
gard
|
https://rarediseases.info.nih.gov/diseases/10183/hemoglobin-zurich
| 2021-01-18T18:00:06 |
{"synonyms": ["Hb-Zurich"]}
|
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Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Other namesRetinal vasculopathy and cerebral leukoencephalopathy
Diagram depicts the mode of inheritance of this condition
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as Cerebroretinal Vasculopathy, CRV, or Hereditary Vascular Retinopathy, HVR or Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke, HERNS) is an inherited condition resulting from a frameshift mutation to the TREX1 gene. This genetically inherited condition affects the retina and the white matter of the central nervous system, resulting in vision loss, lacunar strokes and ultimately dementia. Symptoms commonly begin in the early to mid-forties, and treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. The overall prognosis is poor, and death can sometimes occur within 10 years of the first symptoms appearing.[1]
## Contents
* 1 Presentation
* 1.1 Clinical Associations
* 2 Genetics
* 2.1 The immune system
* 2.1.1 immune system becomes part of the condition
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 History
* 7 References
* 8 External links
## Presentation[edit]
* No recognizable symptoms until after age 40.
* No environmental toxins have been found to be attributable to the condition.
* The condition is primarily localized to the brain and eyes.
* Optically correctable, but continuous, deterioration of visual acuity due to extensive multifocal microvascular abnormalities and retinal neovascularization leading, ultimately, to a loss of vision.
* Elevated levels of alkaline phosphatase.
* Subtle vascular changes in the retina resembling telangiectasia (spider veins) in the parafovea circulation.
* Bilateral capillary occlusions involving the perifovea vessels as well as other isolated foci of occlusion in the posterior pole of the retina.
* Headaches due to papilledema.
* Mental confusion, loss of cognitive function, loss of memory, slowing of speech and hemiparesis due to “firm masses” and white, granular, firm lesions in the brain.
* Jacksonian seizures and grand mal seizure disorder.
* Progressive neurologic deterioration unresponsive to systemic corticosteroid therapy.
* Discrete, often confluent, foci of coagulation necrosis in the cerebral white matter with intermittent findings of fine calcium deposition within the necrotic foci.
* Vasculopathic changes involving both arteries and veins of medium and small caliber present in the cerebral white matter.
* Fibroid necrosis of vessel walls with extravasation of fibrinoid material into adjacent parenchyma present in both necrotic and non-necrotic tissue.
* Obliterative fibrosis in all the layers of many vessel walls.
* Parivascular, adventitial fibrosis with limited intimal thickening.
### Clinical Associations[edit]
* Raynaud's phenomenon
* Anemia
* Hypertension
* Normocytic anemia
* Normochromic anemia
* Gastrointestinal bleeding or telangiectasias
* Elevated alkaline phosphatase
## Genetics[edit]
The official name of the TREX1 gene is “three prime repair exonuclease 1.” The normal function of the TREX1 gene is to provide instructions for making the 3-prime repair exonuclease 1 enzyme. This enzyme is a DNA exonuclease, which means it trims molecules of DNA by removing DNA building blocks (nucleotides) from the ends of the molecules. In this way, it breaks down unneeded DNA molecules or fragments that may be generated during genetic material in preparation for cell division, DNA repair, cell death, and other processes.
Changes (mutations) to the TREX1 gene can result in a range of conditions one of which is AD-RVCL. The mutations to the TREX1 gene are believed to prevent the production of the 3-prime repair exonuclease 1 enzyme. Researchers suggest that the absence of this enzyme may result in an accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules may be mistaken by cells for those of viral invaders, triggering immune system reactions that result in the symptoms of AD-RVCL.
Mutations in the TREX1 gene have also been identified in people with other disorders involving the immune system. These disorders include a chronic inflammatory disease called systemic lupus erythematosus (SLE), including a rare form of SLE called chilblain lupus that mainly affects the skin.
The TREX1 gene is located on chromosome 3: base pairs 48,465,519 to 48,467,644
### The immune system[edit]
* The immune system is composed of white blood cells or leukocytes.
* There are 5 different types of leukocytes.
* Combined, the 5 different leukocytes represent the 2 types of immune systems (The general or innate immune system and the adaptive or acquired immune system).
* The adaptive immune system is composed of two types of cells (B-cells which release antibodies and T-cells which destroy abnormal and cancerous cells).
#### immune system becomes part of the condition[edit]
During mitosis, tiny fragments of “scrap” single strand DNA naturally occur inside the cell. Enzymes find and destroy the “scrap” DNA. The TREX1 gene provides the information necessary to create the enzyme that destroys this single strand “scrap” DNA. A mutation in the TREX1 gene causes the enzyme that would destroy the single strand DNA to be less than completely effective. The less than completely effective nature of the enzyme allows “scrap” single strand DNA to build up in the cell. The buildup of “scrap” single strand DNA alerts the immune system that the cell is abnormal.
The abnormality of the cells with the high concentration of “scrap” DNA triggers a T-cell response and the abnormal cells are destroyed. Because the TREX1 gene is identical in all of the cells in the body the ineffective enzyme allows the accumulation of “scrap” single strand DNA in all of the cells in the body. Eventually, the immune system has destroyed enough of the cells in the walls of the blood vessels that the capillaries burst open. The capillary bursting happens throughout the body but is most recognizable when it happens in the eyes and brain because these are the two places where capillary bursting has the most pronounced effect.
## Pathogenesis[edit]
The main pathologic process centers on small blood vessels that prematurely “drop out” and disappear. The retina of the eye and white matter of the brain are the most sensitive to this pathologic process. Over a five to ten-year period, this vasculopathy (blood vessel pathology) results in vision loss and destructive brain lesions with neurologic deficits and death.
Most recently, AD-RVCL (CRV) has been renamed. The new name is CHARIOT which stands for Cerebral Hereditary Angiopathy with vascular Retinopathy and Impaired Organ function caused by TREX1 mutations.[citation needed]
## Diagnosis[edit]
### Differential diagnosis[edit]
* Brain tumors
* Diabetes
* Macular degeneration
* Telangiectasia (Spider veins)
* Hemiparesis (Stroke)
* Glaucoma
* Hypertension (high blood pressure)
* Systemic Lupus Erythematosus (SLE (same original pathogenic gene, but definitely a different disease because of a different mutation in TREX1))
* Polyarteritis nodosa
* Granulomatosis with polyangiitis
* Behçet's disease
* Lymphomatoid granulomatosis
* Vasculitis
## Treatment[edit]
Currently, there is no therapy to prevent the blood vessel deterioration.
## History[edit]
* 1985 – 1988: CRV (Cerebral Retinal Vasculopathy) was discovered by John P. Atkinson, MD at Washington University School of Medicine in St. Louis, MO
* 1988: 10 families worldwide were identified as having CRV
* 1991: Related disease reported, HERNS (Hereditary Endiotheliopathy with Retinopathy, Nephropathy and Stroke – UCLA
* 1998: Related disease reported, HRV (Hereditary Retinal Vasculopathy) – Leiden University, Netherlands
* 2001: Localized to Chromosome 3.
* 2007: The specific genetic defect in all of these families was discovered in a single gene called TREX1
* 2008: Name changed to AD-RVCL Autosomal Dominant-Retinal Vasculopathy with Cerebral Leukodystrophy
* 2009: Testing for the disease available to persons 21 and older
* 2011: 20 families worldwide were identified as having CRV
* 2012: Obtained mouse models for further research and to test therapeutic agents
## References[edit]
1. ^ "Retinal vasculopathy with cerebral leukodystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
## External links[edit]
Classification
D
* OMIM: 192315
* MeSH: C566007
External resources
* Orphanet: 247691
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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
|
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
|
c1860518
| 7,602 |
wikipedia
|
https://en.wikipedia.org/wiki/Autosomal_dominant_retinal_vasculopathy_with_cerebral_leukodystrophy
| 2021-01-18T19:05:42 |
{"gard": ["2558", "10535", "1217"], "mesh": ["C566007"], "umls": ["C1860518"], "orphanet": ["3421", "247691", "71291", "63261"], "wikidata": ["Q18209717"]}
|
Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner. There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.
*[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
|
Blue cone monochromatism
|
c0339537
| 7,603 |
gard
|
https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism
| 2021-01-18T18:01:45 |
{"mesh": ["C536238"], "omim": ["303700"], "umls": ["C0339537"], "orphanet": ["16"], "synonyms": ["CBBM", "BCM", "Color blindness blue mono cone monochromatic type", "X-chromosome-linked achromatopsia", "Incomplete achromatopsia X-linked", "X-linked achromatopsia incomplete", "Achromatopsia incomplete X-linked"]}
|
A number sign (#) is used with this entry because of evidence that focal cortical dysplasia type II (FCORD2) is caused by somatic mutation in the MTOR (601231), TSC1 (605284), or TSC2 (191092) genes.
Description
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Clinical Features
Taylor et al. (1971) reported distinctive neuropathologic findings in 10 patients undergoing surgery for refractory epilepsy described as 'masses of large aberrant neurons littered apparently in chaos through all but the first molecular layer.' In 7 of the 10 cases, 'balloon' cells were also present.
Wolf et al. (1995) reported 8 cases of chronic drug-resistant epilepsy that were characterized neuropathologically by large, disfigured neurons, oversized and atypical astrocytes, and ballooned multinucleated giant cells similar to those seen in tuberous sclerosis. Despite the strong histomorphologic similarity to tuberous sclerosis, the patients lacked additional features of neurocutaneous phacomatosis. High-resolution magnetic resonance imaging (MRI) showed a hyperintense funnel-shaped subcortical lesion tapering toward the lateral ventricle on fluid-attenuated inversion recovery. Wolf et al. (1995) postulated a defect in neuronal cell migration. Surgical lesionectomy usually resulted in seizure relief.
Lawson et al. (2005) ascertained 34 cases of cortical dysplasia of Taylor from a surgical database; 15 were classified as CDT with balloon cells (CDT-BC) and 19 as CDT with dysplasia only (CDT-D). The common fundamental neuropathologic characteristic of the 2 subtypes was the presence of large, bizarre neurons (neuronal cytomegaly), which is also seen in tuberous sclerosis and hemimegalencephaly. The CDT-BC cases were characterized by a diffuse increase in cortical thickness (at least 2 times normal); no clear cortical-white matter junction due to excess 'spillover' of neurons; panlaminar diffuse replacement of cortical neurons by giant, dysmorphic, maloriented neurons; many GFAP (137780)-immunoreactive balloon cells; GFAP-immunoreactive fibrillar astrocytosis; and focal, severe white matter abnormalities. The features of CDT-D cases included multifocal laminar replacement of cortical neurons by giant, dysmorphic, maloriented neurons with no clearly defined borders; absence of GFAP-immunoreactive balloon cells; moderate astrocytosis; and generally well-preserved white matter. Lawson et al. (2005) noted that the neuropathologic findings of CDT-BC were similar to those seen in tuberous sclerosis, whereas the findings in CDT-D were similar to hemimegalencephaly, suggesting separate pathophysiologies for the 2 subtypes of CDT. MRI findings showed that nearly one-third of CDT-BC cases had normal or very subtle changes, whereas some cases showed focal cortical thickening, blurring of the gray-white margins, and white matter abnormalities. Clinically, patients with CDT presented with severe, intractable epilepsy of very early onset, multiple daily seizures, cognitive disability, and focal neurologic deficits. On the whole, patients with CDT-D had a more severe phenotype, with earlier onset, lower rate of seizure-free time after surgery, higher prevalence of hemiparesis, and lower IQ.
Siegel et al. (2005) identified 21 adult patients with FCDT who underwent surgery for medically refractory epilepsy. Most patients had seizure onset in their twenties (range, 18 to 55 years), and the most common seizure type was complex partial, often with secondary generalization. Three patients had simple partial seizures and 1 had generalized tonic-clonic seizures. Sixteen (76%) of the 21 patients were rendered seizure-free after surgery, which the authors noted was favorable compared to results of surgical intervention for patients with early-onset seizures. Seizure outcome was the same for both types IIA and IIB.
Lim et al. (2015) reported 12 unrelated patients with FCD type II associated with somatic mutations in the MTOR gene. All patients had epilepsy and underwent brain surgery between 11 months and 10 years of age. Histologic examination of resected brain tissue showed cortical dyslamination and dystrophic neurons, either with or without balloon cells, consistent with FCD type IIa or IIb. Brain imaging in some patients showed focal cortical dysplasia, whereas imaging was normal in some patients.
Nakashima et al. (2015) reported 6 unrelated patients with FCD type IIb associated with somatic mutations in the MTOR gene. The patients had onset of refractory daily seizures in the first months or years of life. Seizures were associated with EEG abnormalities and focal cortical dysplasia on brain imaging. Seizure types included complex partial seizures and secondary generalized tonic-clonic seizures. IQ before surgery was decreased in most patients, although it increased somewhat after surgery in some patients. Two patients had hemiparesis. Brain tissue from all patients was consistent with FCD type IIb with balloon cells.
Moller et al. (2016) reported 6 unrelated patients with FCD type II associated with somatic mutations in the MTOR gene. Onset of seizures occurred within the first 2 years of life in most patients, although 1 patient had onset at age 6 years. Seizure types were mainly focal and asymmetric, and EEG showed focal and multifocal abnormalities. All patients had MRI evidence of focal cortical dysplasia. All patients underwent surgical resection: affected brain tissue showed FCD type IIa in 1 patient and FCD type IIb with balloon cells in the other patients. One patient had normal cognition, 1 had memory impairment, and 4 had mild intellectual disability.
Lim et al. (2017) reported 5 unrelated patients with FCD type II associated with somatic mutations in the TSC1 (4 patients) or TSC2 (1 patient) genes. None of the patients had clinical findings related to tuberous sclerosis (see TSC1, 191100 and TSC2, 613254). All had intractable seizures and underwent brain resection. Histology in 4 patients showed cortical dyslamination and dysmorphic neurons consistent with FCD type IIa; histology in the fifth patient showed these features as well as balloon cells, consistent with FCD type IIb. Brain imaging showed no abnormal signal intensity in 2 patients, focal cortical dysplasia in 2, and subependymal heterotopia in 1; the last-mentioned patient was the only patient with a TSC2 mutation.
Molecular Genetics
In brain tissue resected from 12 children with seizures due to FCD type II, Lim et al. (2015) identified 9 different de novo somatic missense mutations in the MTOR gene (see, e.g., 601231.0003 and 601231.0004). The mutations in the first 4 patients were found by whole-exome sequencing and verified by several methods; subsequent mutations were found in an additional 73 patients with FCD type II who underwent sequencing of the MTOR gene. The mutations were not found in the patients' blood samples. The allelic frequencies of the mutations ranged from about 1 to 12%. Overall, MTOR mutations were found in 15.6% of 77 patients with FCD type II who were studied. Transfection of 3 of the mutations into HEK293 cells showed that they resulted in constitutively increased kinase activity compared to controls.
In brain tissue of 6 unrelated patients with FCD type IIb, Nakashima et al. (2015) identified 4 different de novo somatic missense mutations in the MTOR gene (see, e.g., 601231.0005 and 601231.0006). The mutations in the first 2 patients were found by whole-exome sequencing; subsequent mutations were found by direct sequencing of the MTOR gene in additional patients. Overall, mutations were found in 6 (46%) of 13 individuals with FCD type IIb. Mutant allele frequencies in brain tissue were very low (range 1.11 to 9.31%). Transfection of the mutations into HEK293 cells showed that all resulted in constitutive activation of mTOR, with increased phosphorylation of 4EBP, the direct target of mTOR kinase. Lesion-specific brain tissue from affected individuals showed increased phosphorylation of S6K (RPS6KB1; 608938) compared to controls, consistent with a gain of function of the mTOR pathway. Nakashima et al. (2015) concluded that somatic MTOR mutation caused hyperactivation of the mTOR-signaling pathway, which is involved in growth, migration, and maturation of neurons and glial cells. Aberrant activation of this pathway can result in the formation of dysmorphic neurons and balloon cells, particularly during brain development.
In resected brain tissue from 6 (37%) of 16 patients with FCD type II, Moller et al. (2016) identified somatic missense mutations in the MTOR gene (see, e.g., 601231.0005 and 601231.0008). The mutations were found by targeted sequencing of the MTOR gene and other genes in the MTOR pathway. The mutant allele frequency was low, less than 7% in patient brain tissue. Hyperactivation of the mTOR pathway as shown by S6 intense phosphorylation was observed in dysmorphic neurons of patients with FCD types IIa and IIb, in contrast to apparently normal adjacent neurons. The findings were consistent with hyperactivation of the mTOR pathway.
In brain tissue resected from 5 unrelated patients with seizures due to FCD type II, Lim et al. (2017) identified de novo somatic missense mutations in the TSC2 gene (V1547I, 191092.0018, 1 patient) and the TSC1 gene (R22W, 605284.0010 and R204C, 605284.0011, 4 patients). The mutant allele frequency in patient brain tissue was very low, less than 3%. Three patients with TSC1 mutations had FCD type IIa and 1 had FCD type IIb; the patient with the TSC2 mutation had FCD type IIa. The patients were part of a cohort of 40 individuals with FCD type II whose brain tissue was negative for somatic mTOR mutations, accounting for 12.5% of patients. Patient dystrophic brain cells and cells transfected with the mutations showed increased S6K phosphorylation compared to wildtype, consistent with hyperactivation of the mTOR pathway. Abnormal S6K phosphorylation in transfected cells was inhibited by treatment with rapamycin.
Animal Model
Lim et al. (2015) found that transfection of the L2427P MTOR mutation (601231.0003) into the embryonic developing mouse cortex resulted in neuronal migration defects, cytomegalic neurons, and seizures associated with aberrantly increased mTOR kinase activity. Treatment with rapamycin rescued the cytomegalic neurons and seizure activity.
Lim et al. (2017) demonstrated that knockdown of the Tsc1 or Tsc2 genes in developing mouse neurons, using the CRISPR/CASP9 somatic genome editing method in utero, resulted in abnormal neuronal phenotypes resembling focal cortical dysplasia type II in humans, hyperactivation of the mTOR pathway, and epileptic seizures in mice. There was also evidence of abnormal radial migration of cortical neurons in CRISPR-treated neurons. Seizures in Tsc2-mutant mice were almost completely rescued by rapamycin treatment.
INHERITANCE \- Somatic mutation NEUROLOGIC Central Nervous System \- Seizures, severe, drug-resistant, intractable \- Seizures occur multiple times per day \- Complex partial seizures, often with secondary generalization, are the most common type \- Focal neurologic deficits (i.e., hemiparesis) \- Impaired cognition \- Neuronal cytomegaly (large, bizarre, maloriented neurons) in the laminar cortex seen on biopsy of both types \- Disorganized cortical architecture \- MRI may be normal, especially in type IIB \- Mental retardation (in type IIA) \- Absence of balloon cells (in type IIA) \- Multifocal areas of laminar dysmorphic neurons (in type IIA) \- Balloon cells (in type IIB) \- Blurry cortical-white matter junction due to spillover of abnormal neurons (in type IIB) \- Diffuse fibrillar astrocytosis (in type IIB) \- Focal white matter lesions (in type IIB) \- Focal thickening of the cortex on MRI (in type IIB) \- Blurring of the gray-white junction (in type IIB) \- Increased white matter abnormalities on T2 signalling (in type IIB) \- Funnel-shaped signal tapering from subcortical white matter to ventricle (in some type IIB patients) MISCELLANEOUS \- Two subtypes based on pathologic findings of 'balloon cells' - type IIA, absence of balloon cells and type IIB, presence of balloon cells \- Onset usually in infancy or early childhood \- Type IIA tends to have more severe phenotype with earlier onset \- Surgical intervention is not always curative \- Adult onset has been reported \- Mutations occur somatically in affected brain tissue MOLECULAR BASIS \- Caused by somatic mutation in the hamartin gene (TSC1, 605284.0010 ) \- Caused by somatic mutation in the TSC2 gene (TS2, 191092.0018 ) \- Caused by somatic mutation in the mechanistic target of rapamycin gene (MTOR, 601231.0003 ) ▲ 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
|
FOCAL CORTICAL DYSPLASIA, TYPE II
|
c2938983
| 7,604 |
omim
|
https://www.omim.org/entry/607341
| 2019-09-22T16:09:20 |
{"omim": ["607341"], "orphanet": ["65683", "268994", "269008", "269001"], "synonyms": ["Alternative titles", "CORTICAL DYSPLASIA OF TAYLOR", "FOCAL CORTICAL DYSPLASIA OF TAYLOR", "FCD2"]}
|
A number sign (#) is used with this entry because homocystinuria-megaloblastic anemia, cblE complementation type, is caused by homozygous or compound heterozygous mutation in the gene encoding methionine synthase reductase (MTRR; 602568) on chromosome 5p15.
Description
Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR; 156570). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (250940) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).
CblG is caused by mutation in the MTR gene.
Clinical Features
Schuh et al. (1984) described a 'new,' presumably inborn, error of metabolism due to a defect in cobalamin metabolism. The infant boy, born of unrelated parents, presented with megaloblastic anemia and homocystinuria but without methylmalonic aciduria and showed severe developmental delay. The authors presented evidence to suggest an impairment in the formation or accumulation of methylcobalamin but not of adenosylcobalamin. Treatment with hydroxocobalamin, but not with cyanocobalamin and folic acid, resulted in rapid clinical and biochemical improvement. Cultured fibroblasts showed an absolute growth requirement for methionine and other features indicating an intracellular defect of methionine synthesis. Rosenblatt et al. (1984) performed studies on fibroblasts from the patient reported by Schuh et al. (1984). Labeled cobalamin was bound in appropriate amounts to the 2 vitamin B12-dependent enzymes, methionine synthase and methylmalonyl-CoA mutase, but intracellular methylcobalamin levels were decreased compared to controls. Although methionine synthase activity was normal in cell extracts under normal conditions, activity was decreased under suboptimal reducing conditions and intact cells were unable to synthesize adequate methionine for growth. Rosenblatt et al. (1984) suggested that the defect was in a reducing system normally responsible for maintaining enzyme-bound cobalamin in a state necessary for proper function of methionine synthase. Rosenblatt et al. (1985) described a second affected son in this family and found that the parents had a partial defect in the incorporation of (14C)methyltetrahydrofolate into methionine by their fibroblasts. The second affected sib, who was identified prenatally and treated with hydroxocobalamin (OH-B12), showed normal growth and development at age 6 months.
Fowler et al. (1997) stated that 5 males with the cblE defect had been reported and 2 females were known anecdotally. They reported the first detailed study of a female patient with cblE disease. The patient had folate-responsive homocystinuria and megaloblastic anemia. Clinical progress over 17 years was recorded. Before treatment, major findings were microcephaly, psychomotor retardation, episodic lowered consciousness, megaloblastic anemia, increased plasma free homocystine, low plasma methionine, and increased excretion of formiminoglutamate. On high-dose folic acid, biochemical abnormalities such as formiminoglutamate excretion and homocystinuria nearly normalized, but clinical and hematologic abnormalities remained. On replacement of folate with methylcobalamin, alertness, motor function, speech, and electroencephalogram improved, and although biochemical features were similar, the mean corpuscular volume increased. The best control was observed on a combination of folate and methylcobalamin. She remained severely mentally retarded at age 17 years.
Zavadakova et al. (2005) reported 9 European patients with cblE type homocystinuria. They presented between 2 weeks and 3 years of age (median age, 4 weeks) with anemia, which was macrocytic in only 3 patients, and with neurologic involvement in all but 2 patients. Bone marrow examination performed in 7 patients showed megaloblastic changes in all but 1. All patients exhibited moderate to severe hyperhomocysteinemia, while clearly reduced methionine was observed only in 4 cases.
Inheritance
The mode of inheritance of HMAE is autosomal recessive (Zavadakova et al., 2005).
Molecular Genetics
In 2 sibs with homocystinuria-megaloblastic anemia due to defects in cobalamin metabolism, cblE type, originally reported by Schuh et al. (1984) and Rosenblatt et al. (1985), Leclerc et al. (1998) identified a heterozygous truncating mutation in the MTRR gene (602568.0001). A second mutation was not found. Another unrelated patient carried a different truncation mutation (602568.0002); a second mutation was not found.
Zavadakova et al. (2002) reported 2 additional patients with cblE type homocystinuria, 1 of whom was compound heterozygous for 2 novel mutations (602568.0004 and 602568.0005) and the other homozygous for a 140-bp insertion (602568.0006) in the MTRR gene.
In 9 European patients with cblE type homocystinuria, Zavadakova et al. (2005) identified pathogenic biallelic mutations in the MTRR gene (see, e.g., 602568.0007). Transfection of fibroblasts of cblE patients with a wildtype MTRR minigene expression construct resulted in a significant increase of approximately 4-fold in methionine synthesis, indicating correction of the enzyme defect. Zavadakova et al. (2005) found no obvious genotype-phenotype correlation except for a link between a milder predominantly hematologic presentation and homozygosity for the S454L mutation (602568.0007).
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Eyes \- Nystagmus (in some patients) \- Blindness (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Hypotonia \- Abnormal gait \- Seizures \- Cerebral atrophy HEMATOLOGY \- Megaloblastic anemia LABORATORY ABNORMALITIES \- Homocystinuria \- Hyperhomocystinemia \- Hypomethioninemia MISCELLANEOUS \- Onset in infancy \- Symptoms are responsive to cobalamin treatment MOLECULAR BASIS \- Caused by mutation in the methionine synthase reductase gene (MTRR, 602568.0001 ) ▲ 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
|
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
|
c1856057
| 7,605 |
omim
|
https://www.omim.org/entry/236270
| 2019-09-22T16:27:04 |
{"mesh": ["C565510"], "omim": ["236270"], "orphanet": ["2169", "622"], "synonyms": ["Alternative titles", "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE", "VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE", "METHYLCOBALAMIN DEFICIENCY, cblE TYPE"], "genereviews": ["NBK1328"]}
|
Placental villous immaturity
Other namesVillous immaturity, villous dysmaturity
Micrograph of villous immaturity. H&E stain.
SpecialtyGynecology, pathology
Placental villous immaturity is chorionic villous development that is inappropriate for the gestational age.
It is associated with diabetes mellitus[1] and fetal death near term, i.e. intrauterine demise close to the normal gestational period.[2]
## Contents
* 1 Pathology
* 2 See also
* 3 References
* 4 External links
## Pathology[edit]
Immature chorionic villi are larger and have more central blood vessels; thus, the diffusion distance for gas and nutrient exchange is larger and, therefore, placental function is impaired.
* Low mag.
* High mag.
## See also[edit]
* Placenta
* Placental pathology
## References[edit]
1. ^ Arizawa, M.; Nakayama, M.; Kidoguchi, K. (Jun 1991). "[Correlation of placental villous immaturity and dysmaturity with clinical control of maternal diabetes]". Nihon Sanka Fujinka Gakkai Zasshi. 43 (6): 595–602. PMID 1856519.
2. ^ Stallmach, T.; Hebisch, G. (Jul 2004). "Placental pathology: its impact on explaining prenatal and perinatal death" (PDF). Virchows Arch. 445 (1): 9–16. doi:10.1007/s00428-004-1032-2. PMID 15138817.
## 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
|
Placental villous immaturity
|
None
| 7,606 |
wikipedia
|
https://en.wikipedia.org/wiki/Placental_villous_immaturity
| 2021-01-18T18:50:00 |
{"wikidata": ["Q7200300"]}
|
In medicine, describing a disease as acute denotes that it is of short duration and, as a corollary of that, of recent onset. The quantification of how much time constitutes "short" and "recent" varies by disease and by context, but the core denotation of "acute" is always qualitatively in contrast with "chronic", which denotes long-lasting disease (for example, in acute leukaemia and chronic leukaemia). In addition, "acute" also often connotes two other meanings: sudden onset and severity, such as in acute myocardial infarction (AMI), where suddenness and severity are both established aspects of the meaning. It thus often connotes that the condition is fulminant (as in the AMI example), but not always (as in acute rhinitis, which is usually synonymous with the common cold). The one thing that acute MI and acute rhinitis have in common is that they are not chronic. They can happen again (as in recurrent pneumonia, that is, multiple acute pneumonia episodes), but they are not the same case ongoing for months or years (unlike chronic obstructive pulmonary disease, which is).
A noncount sense of "acute disease" refers to the acute phase, that is, a short course, of any disease entity.[1][2] For example, in an article on ulcerative enteritis in poultry, the author says, "in acute disease there may be increased mortality without any obvious signs",[3] referring to the acute form or phase of ulcerative enteritis.
## Contents
* 1 Meaning variations
* 1.1 Related terminology
* 2 Acute care
* 3 References
## Meaning variations[edit]
Not all acute diseases or injuries are severe, and vice versa. For example, a mild stubbed toe is an acute injury. Similarly, many acute upper respiratory infections and acute gastroenteritis cases in adults are mild and usually resolve within a few days or weeks.
The term "acute" is also included in the definition of several diseases, such as severe acute respiratory syndrome, acute leukaemia, acute myocardial infarction, and acute hepatitis. This is often to distinguish diseases from their chronic forms, such as chronic leukaemia, or to highlight the sudden onset of the disease, such as acute myocardial infarct.[2]
### Related terminology[edit]
Related terms include:
Term Meaning
peracute Very acute or violent. Denotes fulminant, whereas "acute" only sometimes connotes fulminant.
Peracute ("very") is not to be confused with preacute ("before", the opposite of postacute).
recurrent "Happening again"—the concept is often one of multiple acute episodes. Relapse can mean the same as recurrent, although relapse is usually used to describe recurrence of chronic conditions that go into remission and then recur.
acute on chronic An acute exacerbation of a chronic condition. It is applied to a variety of conditions, including liver failure,[4][5] subdural hematoma,[6] renal failure[7] respiratory failure,[8][9] and bronchitis.
acute on chronic inflammation A term sometimes used in pathology to describe a pattern of inflammation which is a mixture of chronic and acute inflammation.[medical citation needed] It may be seen in asthma,[10] rheumatoid arthritis,[11] chronic peptic ulcer,[11] chronic periodontitis,[11] tuberculosis,[11] tonsillitis and other conditions.
subacute A vaguely defined state that is clearly not acute, but rather between acute and chronic,[1][2] for example subacute endocarditis, or subacute sclerosing panencephalitis.
chronic A long-term condition.[1][2]
## Acute care[edit]
Acute care is the early and specialist management of adult patients suffering from a wide range of medical conditions requiring urgent or emergency care usually within 48 hours of admission or referral from other specialties.[2]
Acute hospitals are those intended for short-term medical and/or surgical treatment and care. The related medical speciality is acute medicine.
## References[edit]
1. ^ a b c Robert F. Schmidt; William D. Willis, eds. (2007). Encyclopedia of pain. Berlin: Springer. p. Acute Pain, Subacute Pain and Chronic Pain (Chapter.). ISBN 978-3-540-29805-2.
2. ^ a b c d e Kenneth N. Anderson, ed. (1998). Mosby's medical dictionary : illustrated in full colour throughout (5th revised ed.). St. Louis: Mosby. ISBN 0815146310.
3. ^ Pattison, Mark (2008), Poultry Diseases (6th ed.), Saunders/Elsevier, p. 207, ISBN 9780702028625.
4. ^ Wlodzimirow, KA; Eslami, S; Abu-Hanna, A; Nieuwoudt, M; Chamuleau, RA (January 2013). "A systematic review on prognostic indicators of acute on chronic liver failure and their predictive value for mortality". Liver International. 33 (1): 40–52. doi:10.1111/j.1478-3231.2012.02790.x. PMID 22429562.
5. ^ Graziadei, IW (September 2011). "The clinical challenges of acute on chronic liver failure". Liver International. 31 Suppl 3: 24–6. doi:10.1111/j.1478-3231.2011.02585.x. PMID 21824280.
6. ^ Lee, KS; Shim, JJ; Yoon, SM; Doh, JW; Yun, IG; Bae, HG (December 2011). "Acute-on-Chronic Subdural Hematoma: Not Uncommon Events". Journal of Korean Neurosurgical Society. 50 (6): 512–6. doi:10.3340/jkns.2011.50.6.512. PMC 3272512. PMID 22323938.
7. ^ Dear, JW; Yuen, PS (July 2008). "Setting the stage for acute-on-chronic kidney injury". Kidney International. 74 (1): 7–9. doi:10.1038/ki.2008.126. PMC 3113484. PMID 18560361.
8. ^ Ambrosino, N; Gherardi, M; Carpenè, N (2009). "End stage chronic obstructive pulmonary disease". Pneumonologia I Alergologia Polska. 77 (2): 173–9. PMID 19462352.
9. ^ Goldring, JJ; Wedzicha, JA (August 2008). "Managing acute on chronic respiratory failure: a guide to non-invasive ventilation". British Journal of Hospital Medicine. 69 (8): 444–9. doi:10.12968/hmed.2008.69.8.30740. PMID 18783091.
10. ^ Newaskar, Manisha; Hardy, Karen A.; Morris, Claudia R. (1 January 2011). "Asthma in Sickle Cell Disease". The Scientific World Journal. 11: 1138–1152. doi:10.1100/tsw.2011.105. PMC 5548285. PMID 21623460.
11. ^ a b c d Wakefield, D; Kumar RK (2001). Inflammation: chronic (Encyclopedia of life sciences) (PDF). Nature Publishing Group. Archived from the original (PDF) on 2013-08-22. Retrieved 2013-06-18.
Look up acute in Wiktionary, the free dictionary.
* v
* t
* e
Basic medical terms used to describe disease conditions
Signs and symptoms
Symptom
Syndrome
Medical diagnosis
Differential diagnosis
Prognosis
Acute
Chronic
Cure/Remission
Disease
Eponymous disease
Acronym or abbreviation
*[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
|
Acute (medicine)
|
c0001314
| 7,607 |
wikipedia
|
https://en.wikipedia.org/wiki/Acute_(medicine)
| 2021-01-18T18:32:15 |
{"mesh": ["D000208"], "umls": ["C0001314"], "wikidata": ["Q557429"]}
|
Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by mutations in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of low-vision aids when possible.
*[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
|
Leber congenital amaurosis
|
c0339527
| 7,608 |
gard
|
https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis
| 2021-01-18T17:59:30 |
{"mesh": ["D057130"], "umls": ["C0339527"], "orphanet": ["65"], "synonyms": ["LCA", "Congenital absence of the rods and cones", "Congenital retinal blindness", "Leber's amaurosis", "Leber's congenital tapetoretinal degeneration", "Leber's congenital tapetoretinal dysplasia", "Amaurosis congenita of Leber"]}
|
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
4p16.3 microduplication syndrome
|
c4512053
| 7,609 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96072
| 2021-01-23T19:08:07 |
{"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 4p", "Distal trisomy 4p", "Telomeric duplication 4p", "Trisomy 4pter"]}
|
Menstrual Cycle including Menstrual phase (often referred to as "period")
A menstrual disorder is characterized as any abnormal condition with regards to a woman's menstrual cycle. There are many different types of menstrual disorders that vary with signs and symptoms, including pain during menstruation, heavy bleeding, or absence of menstruation. Normal variations can occur in menstrual patterns but generally menstrual disorders can also include periods that come sooner than 21 days apart, more than 3 months apart, or last more than 10 days in duration.[1] Variations of the menstrual cycle are mainly caused by the immaturity of the hypothalamic-pituitary-ovarian (HPO) axis, and early detection and management is required in order to minimize the possibility of complications regarding future reproductive ability.[2][3]
Though menstrual disorders were once considered more of a nuisance problem, they are now widely recognized as having a serious impact on society in the form of days lost from work brought about by the pain and suffering experienced by women. These disorders can arise from physiologic sources (pregnancy etc.), pathologic sources (stress, excessive exercise, weight loss, endocrine or structural abnormalities etc.), or iatrogenic sources (secondary to contraceptive use etc.).[4]
## Contents
* 1 Types of menstrual disorders
* 1.1 Premenstrual Disorders
* 1.2 Disorders of cycle length
* 1.3 Disorders of flow
* 1.4 Disorders of ovulation
* 1.5 Other menstrual disorders
* 2 Signs and symptoms of menstrual disorders
* 2.1 Premenstrual Syndrome (PMS)
* 2.2 Amenorrhea
* 2.3 Abnormal Uterine Bleeding
* 2.4 Dysmenorrhea
* 3 Causes of menstrual disorders
* 3.1 Amenorrhea
* 3.2 Hypomenorrhea
* 3.3 Menorrhagia
* 3.4 Dysmenorrhea
* 4 Diagnosis of menstrual disorders
* 5 Treatment of menstrual disorders
* 5.1 Premenstrual syndrome and premenstrual dysphoric disorder
* 5.2 Amenorrhea
* 5.3 Menorrhagia
* 5.4 Dysmenorrhea
* 6 See also
* 7 References
* 8 External links
## Types of menstrual disorders[edit]
### Premenstrual Disorders[edit]
* Premenstrual syndrome (PMS) or premenstrual tension refers to the emotional and physical symptoms that routinely occur in the two weeks leading up to menstruation.[5] Symptoms are usually mild, but 5-8% of women suffer from moderate to severe symptoms that significantly affect daily activities.[6] Symptoms may include anxiety, irritability, mood swings, depression, headache, food cravings, increased appetite, and bloating.[4]
* Premenstrual dysphoric disorder (PMDD) is a severe mood disorder that affects cognitive and physical functions in the week leading up to menstruation. Premenstrual dysphoric disorder is diagnosed with at least one affective, or mood, symptom and at least five physical, mood, and/or behavioral symptoms.[7]
### Disorders of cycle length[edit]
Normal menstrual cycle length is 22-45 days.[4]
* Amenorrhea is the absence of a menstrual period in a woman of reproductive age. Physiologic states of amenorrhoea are seen during pregnancy and lactation (breastfeeding). Outside of the reproductive years there is absence of menses during childhood and after menopause.[8]
* Irregular menstruation is where there is variation in menstrual cycle length of more than approximately 8 days for a woman. The term metrorrhagia is often used for irregular menstruation that occurs between the expected menstrual periods.[9][10]
* Oligomenorrhea is the medical term for infrequent, often light menstrual periods (intervals exceeding 35 days).[11]
* Polymenorrhea is the medical term for cycles with intervals of 21 days or fewer.[12]
### Disorders of flow[edit]
Normal menstrual flow length is 3-7 days.[4]
* Abnormal uterine bleeding (AUB) is a broad term used to describe any disruption in bleeding that involves the volume, duration, and/or regularity of flow. Bleeding may occur frequently or infrequently, and can occur between periods, after sexual intercourse, and after menopause. Bleeding during pregnancy is excluded.[13]
* Hypomenorrhea is abnormally light menstrual bleeding.[14]
* Menorrhagia (meno = prolonged, rrhagia = excessive flow/discharge) is an abnormally heavy and prolonged menstrual period.[14]
* Metrorrhagia is bleeding at irregular times, especially outside the expected intervals of the menstrual cycle. If there is excessive menstrual and uterine bleeding other than that caused by menstruation, menometrorrhagia (meno = prolonged, metro = time, rrhagia = excessive flow/discharge) may be diagnosed. Causes may be due to abnormal blood clotting, disruption of normal hormonal regulation of periods or disorders of the endometrial lining of the uterus. Depending upon the cause, it may be associated with abnormally painful periods.[14]
### Disorders of ovulation[edit]
Disorders of ovulation include oligoovulation and anovulation:[15]
* Anovulation is absence of ovulation when it would be normally expected (in a post-menarchal, premenopausal woman).[16] Anovulation usually manifests itself as irregularity of menstrual periods, that is, unpredictable variability of intervals, duration, or bleeding. Anovulation can also cause cessation of periods (secondary amenorrhea) or excessive bleeding (dysfunctional uterine bleeding).[17]
* Oligoovulation is infrequent or irregular ovulation (usually defined as cycles of >35 days or <8 cycles a year).[15][18]
### Other menstrual disorders[edit]
* Dysmenorrhea (or dysmenorrhoea), cramps or painful menstruation, involves menstrual periods that are accompanied by either sharp, intermittent pain or dull, aching pain, usually in the pelvis or lower abdomen.[19]
## Signs and symptoms of menstrual disorders[edit]
Diagram of a uterus
The signs and symptoms of menstrual disorders can cause significant stress. Abnormal uterine bleeding (AUB) has the potential to be one of the most urgent gynecological problems during menstruation. Dysmenorrhea is the most common.[2]
### Premenstrual Syndrome (PMS)[edit]
Symptoms may include irritability, bloating, depression, food cravings, aggressiveness, and mood swings. Fluid retention and fluctuating weight gain are also reported.[4]
Precipitating risk factors include: stress, alcohol consumption, exercise, smoking, and some medications.[4]
### Amenorrhea[edit]
Lack of a menses by the age of 16 where secondary sexual characteristics have developed or by the age of 14 where no secondary sexual characteristics have developed (primary amenorrhea), or lack of a menses for more than 3-6 months after first menstruation cycle.[2] Although missing a period is the main sign, other symptoms can include: excess facial, hair loss, headache, changes to vision, milky discharge from the breasts, or absence of breast development. [20]
### Abnormal Uterine Bleeding[edit]
One-third of women will experience abnormal uterine bleeding in their life. Normal menstrual cycle has a frequency of 24 to 38 days, lasts 7 to 9 days, so bleeding that lasts longer could be considered abnormal. Very heavy bleeding (for example, needing to use 1 or more tampons or sanitary pads every hour) is another symptom.[21]
### Dysmenorrhea[edit]
Especially painful or persistent menstrual cramping that occurs in the absence of any underlying pelvic disease.[4]
Pain radiating to the low back or upper thighs with onset of menstruation and lasting anywhere from 12–72 hours. Headache, nausea, vomiting, diarrhea, and fatigue may also accompany the pain. Pain may begin gradually, with the first several years of menses, and then intensified as menstruation becomes regular. Patients who also have secondary amenorrhea report symptoms beginning after age 20 and lasting 5–7 days with progressive worsening of pain over time. Pelvic pain is also reported.[4]
## Causes of menstrual disorders[edit]
There are many causes of menstrual disorders, including uterine fibroids, hormonal imbalances, clotting disorders, cancer, sexually-transmitted infections, polycystic ovary syndrome, and genetics.[22] Uterine fibroids are benign, non-cancerous growths in the uterus that affect most women at some point in their lives and usually does not require treatment unless they cause intolerable symptoms.[23] Stress and lifestyle factors commonly impact menstruation, which includes weight changes, dieting, changes in exercise, travel, and illness.[24]
Hyperprolactinaemia can also cause menstrual disorders.
### Amenorrhea[edit]
There are different causes depending on the type of menstrual order. Amenorrhea, or the absence of menstruation, is subdivided into primary and secondary amenorrhea. In primary amenorrhea, in which there is a failure to menstruate by the age of 16 with normal sexual development or by 14 without normal sexual development, causes can be from developmental abnormalities of the uterus, ovaries, or genital tract, or endocrine disorders. In secondary amenorrhea, or the absence of menstruation for greater than 6 months, can be caused by the same reasons as primary amenorrhea, as well as polycystic ovary syndrome, pregnancy, chronic illness, and certain drugs like cocaine and opioids.[25]
### Hypomenorrhea[edit]
Causes of hypomenorrhea, or irregular light periods, include periods around menopause, eating disorders, excessive exercise, thyroid dysfunction, uncontrolled diabetes, Cushing's syndrome, hormonal birth control, and certain medications to treat epilepsy or mental health conditions.[26]
### Menorrhagia[edit]
Causes of menorrhagia, or heavy menstrual bleeding, include polycystic ovary syndrome, uterine fibroids, endometrial polyps, bleeding disorders, and miscarriage.[26]
### Dysmenorrhea[edit]
Causes of dysmenorrhea, or menstrual pain, include endometriosis, pelvic scarring due to chlamydia or gonorrhea, and intrauterine devices or IUDs.[26] Primary dysmenorrhea is when there is no underlying cause that is identified, and secondary dysmenorrhea is when the menstrual pain is caused by other conditions such as endometriosis, fibroids, or infection.[27]
## Diagnosis of menstrual disorders[edit]
Pelvic exam
Diagnosis begins with an in-depth medical history and physical exam, including a pelvic exam and sometimes a Pap smear.[28]
Additional testing may include but are not limited to blood tests, hormonal tests, ultrasound, gynecologic ultrasound, magnetic resonance imaging (MRI), hysteroscopy, laparoscopy, endometrial biopsy, and dilation and curettage (D&C).[28]
## Treatment of menstrual disorders[edit]
### Premenstrual syndrome and premenstrual dysphoric disorder[edit]
Due to the unclear etiology of premenstrual syndrome and premenstrual dysphoric disorder, symptom relief is the primary goal of treatment. Selective serotonin reuptake inhibitors and spironolactone decrease physical and psychological symptoms associated with premenstrual syndrome. Oral contraceptives may ameliorate physical symptoms of breast tenderness and bloating. Ovarian suppression treatment with gonadotropin-releasing hormone agonist as an off-label use may reduce symptoms but have adverse side effects including decreased bone density. Other less commonly use medications such as alprazolam may reduce anxiety symptoms but has potential for dependence, tolerance, and abuse. Pyridoxine, a form of vitamin B6, may be used as a dietary supplement to relieve overall symptoms.[29][30][31]
### Amenorrhea[edit]
Successful treatment varies depending on the diagnosis of amenorrhea. In patients with functional hypothalamic amenorrhea due to physical or psychological stress, non-pharmacological options include weight gain, resolution of emotional issues, or decreased intensity of exercise. Patients experiencing amenorrhea due to hypothyroidism may be started with thyroid replacement therapy. Dopamine agonists such as bromocriptine are used in patients with pituitary adenomas. Amenorrhea associated with gonadal dysgenesis or a hypoestrogenic state may be treated with oral contraceptives, patches, or vaginal rings.[4]
Amenorrhea associated with structural anomalies can be addressed with surgical treatment such as gonadectomy.[32]
### Menorrhagia[edit]
Acute management of menstrual bleeding includes hormonal therapy with estrogen or oral contraceptives until bleeding has stopped followed by a oral contraceptive tapering regimen. Adjunctive therapy may include iron supplements and nonsteroidal anti-inflammatory drugs.[33] Patients who do not respond to hormonal therapy may use antifibrinolytics. Procedural therapy such as a suction curettage and intrauterine balloon tamponade are reserved for patients who do not respond to medication therapy and do not put fertility at risk. Life-threatening situations may consider more invasive procedures such as endometrial ablation, uterine artery embolization, and hysterectomy.[34]
Long-term management include estrogen-containing therapy and progestin therapy.[35]
### Dysmenorrhea[edit]
Primary dysmenorrhea is commonly treated with nonsteroidal anti-inflammatory drugs such as ibuprofen to reduce moderate to severe pain. Other simple analgesics such as aspirin or acetaminophen are less commonly used but may also reduce short-term pain. Supplements including thiamine and vitamin E may reduce pain in younger women. Non-pharmacological interventions such as the use of external heat are also effective at reducing pain.[36]
## See also[edit]
* Premenstrual syndrome (PMS)
* Pelvic inflammatory disease
* Adenomyosis
* Fibroids
* Ovarian cysts
* Endometriosis
## References[edit]
1. ^ "Menstrual disorders". Mount Sinai.
2. ^ a b c Deligeoroglou E, Creatsas G (2012). "Menstrual disorders". In Sultan C (ed.). Pediatric and Adolescent Gynecology. Endocrine Development. 22. Basel: Karger Publishers. pp. 160–170. doi:10.1159/000331697. ISBN 978-3-8055-9336-6. PMID 22846527.
3. ^ Popat VB, Prodanov T, Calis KA, Nelson LM (2008). "The menstrual cycle: a biological marker of general health in adolescents". Annals of the New York Academy of Sciences. 1135 (1): 43–51. Bibcode:2008NYASA1135...43P. doi:10.1196/annals.1429.040. PMC 2755071. PMID 18574207.
4. ^ a b c d e f g h i Krueger MV (2015). "Menstrual Disorders". In South-Paul JE, Matheny SC, Lewis EL (eds.). Current Diagnosis & Treatment: Family Medicine (4 ed.). New York, NY: McGraw-Hill Education. Retrieved 2020-07-31.
5. ^ Dickerson LM, Mazyck PJ, Hunter MH (April 2003). "Premenstrual syndrome". American Family Physician. 67 (8): 1743–52. PMID 12725453.
6. ^ Yonkers KA, O'Brien PM, Eriksson E (April 2008). "Premenstrual syndrome". Lancet. 371 (9619): 1200–10. doi:10.1016/S0140-6736(08)60527-9. PMC 3118460. PMID 18395582.
7. ^ Hantsoo L, Epperson CN (November 2015). "Premenstrual Dysphoric Disorder: Epidemiology and Treatment". Current Psychiatry Reports. 17 (11): 87. doi:10.1007/s11920-015-0628-3. PMC 4890701. PMID 26377947.
8. ^ "Amenorrhea". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2017.
9. ^ "Definition of Metrorrhagia". MedicineNet.com.
10. ^ Dunn A (2017). "7 Causes of Cramps before Periods". Medplux.
11. ^ "Oligomenorrhea". The Free Dictionary.
12. ^ "Polymenorrhea". Healthline. 2018.
13. ^ "Abnormal uterine bleeding: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2020-07-31.
14. ^ a b c Long WN (1990). "Abnormal Vaginal Bleeding". In Walker HK, Hall WD, Hurst JW (eds.). Clinical Methods: The History, Physical, and Laboratory Examinations (3rd ed.). Boston: Butterworths. ISBN 978-0-409-90077-4. PMID 21250125. Retrieved 2020-07-30.
15. ^ a b "Ovulation Disorders - Jefferson University Hospitals". hospitals.jefferson.edu. Retrieved 2020-08-04.
16. ^ "Ovulation Disorders". Jefferson Health.
17. ^ "Anovulatory Cycle: When You Don't Release an Oocyte". Healthline. 2018.
18. ^ Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, et al. (2018). "Evaluation of Amenorrhea, Anovulation, and Abnormal Bleeding". Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc. PMID 25905367.
19. ^ Calis KA (2020). "Dysmenorrhea: Practice Essentials, Background, Pathophysiology". MedScape. WebMD LLC.
20. ^ "What are the symptoms of amenorrhea?". NIH. Retrieved 2020-08-02.
21. ^ Davis E, Sparzak PB (2020). "Abnormal Uterine Bleeding (Dysfunctional Uterine Bleeding)". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 30422508. Retrieved 2020-07-30.
22. ^ "Menstrual Disorders". Baylor College of Medicine.
23. ^ "Uterine Fibroids". Baylor College of Medicine.
24. ^ "Abnormal Menstruation (Periods): Types, Causes & Treatment". Cleveland Clinic.
25. ^ Hickey M, Balen A (2003). "Menstrual disorders in adolescence: investigation and management". Human Reproduction Update. 9 (5): 493–504. doi:10.1093/humupd/dmg038. PMID 14640381.
26. ^ a b c "What causes menstrual irregularities?". Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
27. ^ "Dysmenorrhea: Painful Periods". The American College of Obstetricians and Gynecologists.
28. ^ a b "Menstrual Disorders". Baylor College of Medicine. Retrieved July 30, 2020.
29. ^ Biggs WS, Demuth RH (October 2011). "Premenstrual syndrome and premenstrual dysphoric disorder". American Family Physician. 84 (8): 918–24. PMID 22010771.
30. ^ Kwan I, Onwude JL (2008). "Premenstrual Syndrome". American Family Physician. 77 (1): 82. ISSN 0002-838X.
31. ^ Kwan I, Onwude JL (August 2015). "Premenstrual syndrome". BMJ Clinical Evidence. 2015: 0806. PMC 2907788. PMID 26303988.
32. ^ Yoon JY, Cheon CK (September 2019). "Evaluation and management of amenorrhea related to congenital sex hormonal disorders". Annals of Pediatric Endocrinology & Metabolism. 24 (3): 149–157. doi:10.6065/apem.2019.24.3.149. PMC 6790874. PMID 31607107.
33. ^ "Heavy Menstrual Bleeding". Centers for Disease Control and Prevention. U.S. Centers for Disease Control and Prevention (CDC). 2015. Retrieved 2020-07-28.
34. ^ Costlow LS (May 2020). "Heavy Menstrual Bleeding in Adolescents: ACOG Management Recommendations". American Family Physician. 101 (10): 633–635. PMID 32412210.
35. ^ Wouk N, Helton M (April 2019). "Abnormal Uterine Bleeding in Premenopausal Women". American Family Physician. 99 (7): 435–443. PMID 30932448.
36. ^ Latthe P, Champaneria R, Khan K (2012). "Dysmenorrhea". American Family Physician. 85 (4): 386–387. ISSN 0002-838X.
## External links[edit]
* NIH
* Putting tampon in painlessly
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
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* Chhaupadi
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* Menstrual cup
* Menstrual Hygiene Day
* Menstrual taboo
* Menstruation hut
* Niddah
*[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
|
Menstrual disorder
|
c0025345
| 7,610 |
wikipedia
|
https://en.wikipedia.org/wiki/Menstrual_disorder
| 2021-01-18T18:35:10 |
{"mesh": ["D008599"], "umls": ["C0025345"], "icd-9": ["626"], "icd-10": ["N91", "N95"], "wikidata": ["Q2137327"]}
|
Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women. The tumor is not painful but sometimes they may grow very large and pressure and damage the skin around it resulting in wounds and foul-smelling discharge. About 90% of the cases are on the scalp, but they have also been found on the forehead, nose, back, chest, abdomen, buttocks, elbow, wrist and genitalia. Treatment is with surgery removing the lesion. Prognosis is good in most cases but the patient should be followed closely 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
|
Proliferating trichilemmal cyst
|
c0345992
| 7,611 |
gard
|
https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst
| 2021-01-18T17:58:07 |
{"orphanet": ["492"], "synonyms": ["Proliferating pilar cyst"]}
|
The human spleen is located in the upper left abdomen, behind the stomach
Spleen pain is a pain felt from the left upper quadrant of the abdomen or epigastrium where the human spleen is located or neighboring.[1]
## Contents
* 1 Etiology
* 1.1 Splenomegaly
* 1.2 Splenic infarction
* 1.3 Splenic abscess
* 1.4 Splenic rupture
* 2 Reference
## Etiology[edit]
### Splenomegaly[edit]
Main article: Splenomegaly
Splenomegaly can result in hematologic disturbances and abdominal pain and can increase the risk for splenic rupture, which also causes spleen pain, from blunt trauma, resulting in life-threatening internal bleeding.[2] Many conditions can cause splenomegaly, such as various infections, liver disease, and cancer.[2]
### Splenic infarction[edit]
Main article: Splenic infarction
Abdominal pain remains the leading chief complaint in patients diagnosed with a splenic infarct. [1] Evaluation of patients who present with abdominal pain requires a broad differential approach. [3]
Lab evaluation may help rule in other causes of abdominal pain. Elevated liver function tests, bilirubin or lipase, may suggest a hepatobiliary or pancreatic source for pain. Leukocytosis and elevated lactate dehydrogenase (LDH) may be found in splenic infarction. However, these results lack specificity to splenic infarct.[3]
Radiographic testing is required to detect this rare illness. In the hyperacute phase of infarction, abdominal CT scan performed with intravenous contrast is the imaging modality of choice in suspected splenic infarction. Splenic infarct appears as a wedge-shaped area of splenic tissue with the apex pointed toward the helium and the base of the splenic capsule. As the infarction matures, the affected tissue may normalize, liquefy or become contracted or scarred. Abdominal ultrasound has also been used to detect splenic infarction. Ultrasound findings of the hypoechoic wedge-shaped region of splenic tissue indicate infarction. Evolution of infarction may appear as hyperechoic with retraction of the splenic capsule.[3][4]
### Splenic abscess[edit]
Main article: Splenic abscess
Fever is the most common symptom of splenic abscess, followed by abdominal pain and a tender mass on palpation of the left upper quadrant of the abdomen. The common signs and symptoms described of a splenic abscess include the triad of fever, left upper quadrant tenderness, and leukocytosis is present only in one-third of the cases.[5]
### Splenic rupture[edit]
Main article: Splenic rupture
Trauma is the most common mechanism of splenic rupture, and blunt trauma involving the left-upper quadrant, left rib cage, or left flank should raise suspicion for splenic involvement. The absence of substantial trauma cannot exclude the possibility of splenic injury, as individuals with a history of splenomegaly require less force for traumatic rupture.[6][7]
Severally ill patients may present with hypovolemic shock manifesting as tachycardia, hypotension, and pallor. Other findings include tenderness to palpation in the left upper quadrant, generalized peritonitis, or referred pain to the left shoulder (Kehr sign).[8] Kehr sign is a rare finding and should increase the suspicion of the peritoneal process and possible splenic rupture. Some patients also report pleuritic left-sided chest pain in the setting of a ruptured spleen. Caution should be used early in the evaluation of patients with a concerning mechanism of injury, since few symptoms may be present early in the course of splenic rupture.[7][9]
It is important to ask focused questions regarding previous surgical history, hepatic disease process, recent infections, anticoagulant, aspirin or nonsteroidal anti-inflammatory drugs usage and bleeding disorders. Visual inspection for signs of external trauma such as abrasions, lacerations, contusions, and classic seatbelt sign on the abdomen is helpful. The absence of external visual findings does not exclude intra-abdominal pathology, as up to 20% of patients with intra-abdominal injury may not display these findings upon initial examination. Also, examination on arrival may not reveal severe tenderness, rigidity, or abdominal distention in spite of rupture.[10] Physical examination may also be limited in a patient with altered mental status or distracting injuries.[11] Therefore, the physical exam alone is not always sensitive when evaluating a patient with a splenic rupture.[7]
## Reference[edit]
1. ^ a b Ami, S; Meital, A; Ella, K; Abraham, K (2015-09-11). "Acute Splenic Infarction at an Academic General Hospital Over 10 Years: Presentation, Etiology, and Outcome". Medicine. 94 (36): e1363. doi:10.1097/MD.0000000000001363. PMC 4616622. PMID 26356690. "Most patients presented with abdominal pain (84%), often felt in the left upper quadrant or epigastrium."
2. ^ a b Zambrano, Laura D.; Samson, Olivia; Phares, Christina; Jentes, Emily; Weinberg, Michelle; Goers, Matthew; Kachur, S. Patrick; McDonald, Robert; Morawski, Bozena; Njuguna, Henry; Bakhsh, Yasser; Laws, Rebecca; Peak, Corey; Iverson, Sally Ann; Bezold, Carla; Allkhenfr, Hayder; Horth, Roberta; Yang, Jun; Miller, Susan; Kacka, Michael; Davids, Abby; Mortimer, Margaret; Khan, Nomana; Stauffer, William; Marano, Nina (2018-12-14). "Unresolved Splenomegaly in Recently Resettled Congolese Refugees ― Multiple States, 2015–2018". Morbidity and Mortality Weekly Report. Centers for Disease Control MMWR Office. 67 (49): 1358–1362. doi:10.15585/mmwr.mm6749a2. ISSN 0149-2195. PMC 6300079. PMID 30543602.
3. ^ a b c Chapman, J; Bhimji, SS (2018), "article-29380", Splenic Infarcts, Treasure Island (FL): StatPearls Publishing, PMID 28613652, retrieved 2019-02-27
4. ^ Hwang, JH; Lee, CS (2014-12-03). "Malaria-Induced Splenic Infarction". The American Journal of Tropical Medicine and Hygiene. 91 (6): 1094–1100. doi:10.4269/ajtmh.14-0190. PMC 4257629. PMID 25294615.
5. ^ Mathew, G; Bhimji, SS (2018), "article-29377", Splenic Abscess, Treasure Island (FL): StatPearls Publishing, PMID 30137831, retrieved 2019-02-28
6. ^ Reinhold, Gregory; Melonakos, Tina; Lyman, Daniel (2017-07-28). "A Near Fatal Sneeze Spontaneous Splenic Rupture: A Case Report and Review of the Literature". Clinical Practice and Cases in Emergency Medicine. Western Journal of Emergency Medicine. 1 (3): 190–193. doi:10.5811/cpcem.2017.2.32847. ISSN 2474-252X. PMC 5965167. PMID 29849293.
7. ^ a b c Akoury, T; Whetstone, DR (2018), "article-29383", Splenic Rupture, Treasure Island (FL): StatPearls Publishing, PMID 30247826, retrieved 2019-02-28
8. ^ Söyüncü, S; Bektaş, F; Cete, Y (2012). "Traditional Kehr's sign: Left shoulder pain related to splenic abscess". Turkish Journal of Trauma & Emergency Surgery. 18 (1): 87–8. doi:10.5505/tjtes.2012.04874. ISSN 1306-696X. PMID 22290058.
9. ^ Oh, JS; Mentzer, CJ; Abuzeid, AM; Holsten, SB (2016). "Delayed Splenic Rupture with Normal Admission CT Scan after Blunt Trauma". The American Surgeon. 82 (8): e223–4. ISSN 0003-1348. PMID 27657577.
10. ^ Blaivas, M; Quinn, J (1998). "Diagnosis of spontaneous splenic rupture with emergency ultrasonography". Annals of Emergency Medicine. 32 (5): 627–30. doi:10.1016/S0196-0644(98)70046-0. ISSN 0196-0644. PMID 9795331.
11. ^ Monti, Jonathan D. (2016). "A rare cause of abdominal pain and hypotension in pregnancy". JAAPA. Ovid Technologies (Wolters Kluwer Health). 29 (11): 31–34. doi:10.1097/01.jaa.0000499629.82493.d1. ISSN 1547-1896. PMID 27787274.
* v
* t
* e
Human spleen
Structure
* Hilum
* Trabeculae
Red pulp
* Cords of Billroth
* Marginal zone
White pulp
* Periarteriolar lymphoid sheaths
* Germinal center
Blood flow
* Trabecular arteries
* Trabecular veins
Pain
* Splenomegaly
* Splenic abscess
* Splenic infarction
* Spleen rupture
* Splenic injury
*[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
|
Spleen pain
|
c0920154
| 7,612 |
wikipedia
|
https://en.wikipedia.org/wiki/Spleen_pain
| 2021-01-18T18:35:10 |
{"umls": ["C0920154"], "wikidata": ["Q65078764"]}
|
Birth defect of the spinal cord
Spina bifida
Illustration of a child with spina bifida
SpecialtyPediatrics, neurosurgery, rehabilitation medicine
SymptomsHairy patch, dimple, dark spot, swelling on the lower back[1]
ComplicationsPoor ability to walk, problems with bladder or bowel control, hydrocephalus, tethered spinal cord, latex allergy[2]
CausesGenetic and environmental factors[3]
Risk factorsLack of folate during pregnancy, certain antiseizure medications, obesity, poorly controlled diabetes[3][4]
Diagnostic methodAmniocentesis, medical imaging[5]
PreventionFolate supplementation[3]
TreatmentSurgery[6]
Frequency15% (occulta), 0.1–5 per 1000 births (others)[7][8]
Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy.[1] There are three main types: spina bifida occulta, meningocele and myelomeningocele.[1] The most common location is the lower back, but in rare cases it may be in the middle back or neck.[9] Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine.[5][1] Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine.[1] Myelomeningocele, also known as open spina bifida, is the most severe form.[2] Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy.[2] Learning problems are relatively uncommon.[2]
Spina bifida is believed to be due to a combination of genetic and environmental factors.[3] After having one child with the condition, or if one of the parents has the condition, there is a 4% chance that the next child will also be affected.[4] Not having enough folate (vitamin B9) in the diet before and during pregnancy also plays a significant role.[3] Other risk factors include certain antiseizure medications, obesity and poorly controlled diabetes.[4] Diagnosis may occur either before or after a child is born.[5] Before birth, if a blood test or amniocentesis finds a high level of alpha-fetoprotein (AFP), there is a higher risk of spina bifida.[5] Ultrasound examination may also detect the problem. Medical imaging can confirm the diagnosis after birth.[5] Spina bifida is a type of neural tube defect related to but distinct from other types such as anencephaly and encephalocele.[10]
Most cases of spina bifida can be prevented if the mother gets enough folate before and during pregnancy.[3] Adding folic acid to flour has been found to be effective for most women.[11] Open spina bifida can be surgically closed before or after birth.[6] A shunt may be needed in those with hydrocephalus, and a tethered spinal cord may be surgically repaired.[6] Devices to help with movement such as crutches or wheelchairs may be useful.[6] Urinary catheterization may also be needed.[6]
About 15% of people have spina bifida occulta.[8] Rates of other types of spina bifida vary significantly by country, from 0.1 to 5 per 1,000 births.[12] On average, in developed countries, including the United States, it occurs in about 0.4 per 1,000 births.[7][4][13] In India, it affects about 1.9 per 1,000 births.[14] Europeans are at higher risk compared to Africans.[15] The term spina bifida is Latin for "split spine".
## Contents
* 1 Types
* 1.1 Spina bifida occulta
* 1.2 Meningocele
* 1.3 Myelomeningocele
* 1.3.1 Myelocele
* 2 Signs and symptoms
* 2.1 Physical problems
* 2.2 Neurological problems
* 2.2.1 Executive function
* 2.2.2 Academic skills
* 3 Cause
* 4 Pathophysiology
* 5 Prevention
* 6 Screening
* 7 Treatment
* 7.1 Pregnancy
* 7.2 Childhood
* 7.3 Transition to adulthood
* 8 Epidemiology
* 9 Research
* 9.1 MOMS trial
* 9.2 Fetoscopic surgery
* 10 See also
* 11 References
* 12 External links
## Types[edit]
Different types of spina bifida
There are two types: spina bifida occulta and spina bifida cystica.[16] Spina bifida cystica can then be broken down into meningocele and myelomeningocele.[16]
### Spina bifida occulta[edit]
Occulta is Latin for "hidden". This is the mildest form of spina bifida.[17] In occulta, the outer part of some of the vertebrae is not completely closed.[18] The splits in the vertebrae are so small that the spinal cord does not protrude. The skin at the site of the lesion may be normal, or it may have some hair growing from it; there may be a dimple in the skin, or a birthmark.[19] Unlike most other types of neural tube defects, spina bifida occulta is not associated with increased AFP, a common screening tool used to detect neural tube defects in utero. This is because, unlike in most of the other neural tube defects, the dural lining is maintained.[citation needed]
Many people with this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases.[19] About 15% of people have spina bifida occulta,[8] and most people are diagnosed incidentally from spinal X-rays. A systematic review of radiographic research studies found no relationship between spina bifida occulta and back pain.[20] More recent studies not included in the review support the negative findings.[21][22][23]
However, other studies suggest spina bifida occulta is not always harmless. One study found that among patients with back pain, severity is worse if spina bifida occulta is present.[24][25] Among females, this could be mistaken for dysmenorrhea.[citation needed]
Incomplete posterior fusion is not a true spina bifida, and is very rarely of neurological significance.[26]
### Meningocele[edit]
A posterior meningocele (/mɪˈnɪŋɡəˌsiːl/) or meningeal cyst (/mɪˈnɪndʒiəl/) is the least common form of spina bifida. In this form, a single developmental defect allows the meninges to herniate between the vertebrae. As the nervous system remains undamaged, individuals with meningocele are unlikely to suffer long-term health problems, although cases of tethered cord have been reported. Causes of meningocele include teratoma and other tumors of the sacrococcyx and of the presacral space, and Currarino syndrome.[citation needed]
A meningocele may also form through dehiscences in the base of the skull. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie at the roof of the nasal cavity and may be mistaken for a nasal polyp. They are treated surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.[citation needed]
### Myelomeningocele[edit]
A lumbar myelomeningocele
Myelomeningocele (MMC), also known as meningomyelocele, is the type of spina bifida that often results in the most severe complications and affects the meninges and nerves.[27] In individuals with myelomeningocele, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. Myelomeningocele occurs in the third week of embryonic development, during neural tube pore closure. MMC is a failure of this to occur completely.[3] The meningeal membranes that cover the spinal cord also protrude through the opening, forming a sac enclosing the spinal elements, such as meninges, cerebrospinal fluid, and parts of the spinal cord and nerve roots.[28] Myelomeningocele is also associated with Arnold–Chiari malformation, necessitating a VP shunt placement.[10]
Toxins and conditions associated with MMC formation include: calcium-channel blockers, carbamazepine, cytochalasins, hyperthermia, and valproic acid.[12]
#### Myelocele[edit]
Spina bifida with myelocele is the most severe form of myelomeningocele. In this type, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections such as meningitis.[29]
The protruding portion of the spinal cord and the nerves that originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis and loss of sensation below the level of the spinal cord defect. Thus, the more cranial the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis may be. Symptoms may include ambulatory problems, loss of sensation, deformities of the hips, knees or feet, and loss of muscle tone.[citation needed]
* X-ray image of spina bifida occulta in S-1
* X-ray computed tomography scan of unfused arch at C1
* Myelomeningocele in the lumbar area
(1) External sac with cerebrospinal fluid
(2) Spinal cord wedged between the vertebrae
## Signs and symptoms[edit]
### Physical problems[edit]
Physical signs of spina bifida may include:
* Leg weakness and paralysis[30]
* Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)[30]
* Bladder and bowel control problems, including incontinence, urinary tract infections, and poor kidney function[30]
* Pressure sores and skin irritations[30]
* Abnormal eye movement[31]
68% of children with spina bifida have an allergy to latex,[32] ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. The most common approach to avoid developing an allergy is to avoid contact with latex-containing products such as examination gloves and condoms and catheters that do not specify they are latex-free, and many other products, such as some commonly used by dentists.[18]
The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or bladder function.[33]
### Neurological problems[edit]
Many individuals with spina bifida have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. In affected individuals, the back portion of the brain is displaced from the back of the skull down into the upper neck. In about 90% of the people with myelomeningocele, hydrocephalus also occurs because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid, causing an excess of the fluid to accumulate.[34] In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.[31]
The corpus callosum is abnormally developed in 70–90% of individuals with spina bifida myelomeningocele; this affects the communication processes between the left and right brain hemispheres.[35] Further, white matter tracts connecting posterior brain regions with anterior regions appear less organized. White matter tracts between frontal regions have also been found to be impaired.[31]
Cortex abnormalities may also be present. For example, frontal regions of the brain tend to be thicker than expected, while posterior and parietal regions are thinner. Thinner sections of the brain are also associated with increased cortical folding.[31] Neurons within the cortex may also be displaced.[36]
#### Executive function[edit]
Several studies have demonstrated difficulties with executive functions in youth with spina bifida,[37][38] with greater deficits observed in youth with shunted hydrocephalus.[39] Unlike typically developing children, youths with spina bifida do not tend to improve in their executive functioning as they grow older.[38] Specific areas of difficulty in some individuals include planning, organizing, initiating, and working memory. Problem-solving, abstraction, and visual planning may also be impaired.[40] Further, children with spina bifida may have poor cognitive flexibility. Although executive functions are often attributed to the frontal lobes of the brain, individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be implicated.[39]
Individuals with spina bifida, especially those with shunted hydrocephalus, often have attention problems. Children with spina bifida and shunted hydrocephalus have higher rates of ADHD than children without those conditions (31% vs. 17%).[37] Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention.[39][41] Attention deficits may be evident at a very early age, as infants with spina bifida lag behind their peers in orienting to faces.[42]
#### Academic skills[edit]
Individuals with spina bifida may struggle academically, especially in the subjects of mathematics and reading. In one study, 60% of children with spina bifida were diagnosed with a learning disability.[43] In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning.[36] Children with spina bifida may perform well in elementary school, but begin to struggle as academic demands increase.
Children with spina bifida are more likely than their peers without spina bifida to be dyscalculic.[44] Individuals with spina bifida have demonstrated stable difficulties with arithmetic accuracy and speed, mathematical problem-solving, and general use and understanding of numbers in everyday life.[45] Mathematics difficulties may be directly related to the thinning of the parietal lobes (regions implicated in mathematical functioning) and indirectly associated with deformities of the cerebellum and midbrain that affect other functions involved in mathematical skills. Further, higher numbers of shunt revisions are associated with poorer mathematics abilities.[46] Working memory and inhibitory control deficiencies have been implicated for math difficulties,[47] although visual-spatial difficulties are not likely involved.[44] Early intervention to address mathematics difficulties and associated executive functions is crucial.[47]
Individuals with spina bifida tend to have better reading skills than mathematics skills.[46] Children and adults with spina bifida have stronger abilities in reading accuracy than in reading comprehension.[48] Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding.[49] Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.[48]
## Cause[edit]
Spina bifida is believed to be caused by a combination of genetic and environmental factors.[3] After having one child with the condition, or if a parent has the condition, there is a 4% chance the next child will also be affected.[4] A folic acid deficiency during pregnancy also plays a significant role.[3] Other risk factors include certain antiseizure medications, obesity, and poorly managed diabetes.[4] Alcohol misuse can trigger macrocytosis which discards folate. After stopping the drinking of alcohol, a time period of months is needed to rejuvenate bone marrow and recover from the macrocytosis.[50]
Those who are white or Hispanic have a higher risk. Girls are more prone to being born with spina bifida.[51]
## Pathophysiology[edit]
Spina bifida occurs when local regions of the neural tube fail to fuse or there is failure in formation of the vertebral neural arches. Neural arch formation occurs in the first month of embryonic development (often before the mother knows she is pregnant). Some forms are known to occur with primary conditions that cause raised central nervous system pressure, raising the possibility of a dual pathogenesis.[52]
In normal circumstances, the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization.[53] However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some anticonvulsants, diabetes, obesity, and having a relative with spina bifida can all affect the probability of neural tube malformation.
Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. Human spina bifida, like other human diseases, such as cancer, hypertension and atherosclerosis (coronary artery disease), likely results from the interaction of multiple genes and environmental factors.[citation needed]
Research has shown the lack of folic acid (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of these defects when they occur.[54][55][56] It is unknown how or why folic acid has this effect.
Spina bifida does not follow direct patterns of heredity as do muscular dystrophy or haemophilia. Studies show a woman having had one child with a neural tube defect such as spina bifida has about a 3% risk of having another affected child. This risk can be reduced with folic acid supplementation before pregnancy. For the general population, low-dose folic acid supplements are advised (0.4 mg/day).[citation needed]
## Prevention[edit]
There is neither a single cause of spina bifida nor any known way to prevent it entirely. However, dietary supplementation with folic acid has been shown to be helpful in reducing the incidence of spina bifida. Sources of folic acid include whole grains, fortified breakfast cereals, dried beans, leaf vegetables and fruits.[57] However it is difficult for women to get the recommended 400 micrograms of folic acid a day from unfortified foods.[58] Globally, fortified wheat flour is credited with preventing 50 thousand neural tube birth defects like spina bifida a year, but 230,000 could be prevented every year through this strategy.[59]
Folate fortification of enriched grain products has been mandatory in the United States since 1998. This prevents an estimated 600 to 700 incidents of spina bifida a year in the U.S. and saves $400 - $600 million in healthcare expenses.[60] The U.S. Food and Drug Administration, Public Health Agency of Canada[61] and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy.[62] Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication, should take a higher dose of 4–5 mg/day.[62]
Certain mutations in the gene VANGL1 have been linked with spina bifida in some families with a history of the condition.[63]
## Screening[edit]
Open spina bifida can usually be detected during pregnancy by fetal ultrasound. Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests – an ultrasound of the fetal spine and amniocentesis of the mother's amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase). AFP tests are now mandated by some state laws (including California) and failure to provide them can have legal ramifications. In one case, a man born with spina bifida was awarded a $2-million settlement after court found his mother's OBGYN negligent for not performing these tests.[64] Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage. In the majority of cases, though, spina bifida is an isolated malformation.
Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy, as some neural tube defects are associated with genetic disorders such as trisomy 18. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. With modern medical care, the quality of life of patients has greatly improved.[53]
* Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy
* Play media
Ultrasound view of the fetal spine at 21 weeks of pregnancy. In the longitudinal scan a lumbar myelomeningocele is seen.
* Play media
Anatomy scan of the fetal head at 20 weeks of pregnancy in a fetus affected by spina bifida. In the axial scan the characteristic lemon sign and banana sign are seen.
## Treatment[edit]
There is no known cure for nerve damage caused by spina bifida. Standard treatment is surgery after delivery. This surgery aims to prevent further damage of the nervous tissue and to prevent infection; pediatric neurosurgeons operate to close the opening on the back. The spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen or chest wall.
### Pregnancy[edit]
Standard treatment is after delivery. There is tentative evidence about treatment for severe disease before delivery while the baby is inside the womb.[65] As of 2014, however, the evidence remains insufficient to determine benefits and harms.[66]
Treatment of spina bifida during pregnancy is not without risk.[65] To the mother, this includes scarring of the uterus.[65] To the baby, there is the risk of preterm birth.[65]
Broadly, there are two forms of prenatal treatment. The first is open fetal surgery, where the uterus is opened and the spina bifida repair performed. The second is via fetoscopy. These techniques may be an option to standard therapy.[67]
### Childhood[edit]
Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists:[68]
* Physiatrists coordinate the rehabilitation efforts of different therapists and prescribe specific therapies, adaptive equipment, or medications to encourage as high of a functional performance within the community as possible.
* Orthopedists monitor growth and development of bones, muscles, and joints.
* Neurosurgeons perform surgeries at birth and manage complications associated with tethered cord and hydrocephalus.
* Neurologists treat and evaluate nervous system issues, such as seizure disorders.
* Urologists to address kidney, bladder, and bowel dysfunction – many will need to manage their urinary systems with a program of catheterization. Bowel management programs aimed at improving elimination are also designed.
* Ophthalmologists evaluate and treat complications of the eyes.
* Orthotists design and customize various types of assistive technology, including braces, crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the level of the spina bifida defect, the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces, whereas those with higher levels do best with a wheelchair, and some may be able to walk unaided.
* Physical therapists, occupational therapists, psychologists, and speech/language pathologists aid in rehabilitative therapies and increase independent living skills.
### Transition to adulthood[edit]
Although many children's hospitals feature integrated multidisciplinary teams to coordinate healthcare of youth with spina bifida, the transition to adult healthcare can be difficult because the above healthcare professionals operate independently of each other, requiring separate appointments, and communicate among each other much less frequently. Healthcare professionals working with adults may also be less knowledgeable about spina bifida because it is considered a childhood chronic health condition.[69] Due to the potential difficulties of the transition, adolescents with spina bifida and their families are encouraged to begin to prepare for the transition around ages 14–16, although this may vary depending on the adolescent's cognitive and physical abilities and available family support. The transition itself should be gradual and flexible. The adolescent's multidisciplinary treatment team may aid in the process by preparing comprehensive, up-to-date documents detailing the adolescent's medical care, including information about medications, surgery, therapies, and recommendations. A transition plan and aid in identifying adult healthcare professionals are also helpful to include in the transition process.[69]
Further complicating the transition process is the tendency for youths with spina bifida to be delayed in the development of autonomy,[70] with boys particularly at risk for slower development of independence.[71] An increased dependence on others (in particular family members) may interfere with the adolescent's self-management of health-related tasks, such as catheterization, bowel management, and taking medications.[72] As part of the transition process, it is beneficial to begin discussions at an early age about educational and vocational goals, independent living, and community involvement.[73]
## Epidemiology[edit]
About 15% of people have spina bifida occulta.[8] Rates of other types of spina bifida vary significantly by country from 0.1 to 5 per 1000 births.[12] On average in developed countries it occurs in about 0.4 per 1000 births.[7] In the United States it affected about 0.7 per 1000 births,[4] and in India about 1.9 per 1000 births.[14] Part of this difference is believed to be due to race, with Caucasians at higher risk, and part due to environmental factors.[15] It is most common in the Celtic people (12.5 per 10,000 live births), and it is rare in Asians and people of African descent.[74]
In the United States, rates are higher on the East Coast than on the West Coast, and higher in white people (one case per 1000 live births) than in black people (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do natives.[75][76] Highest rates of the defect in the USA can be found in Hispanic youth.[77]
The highest incidence rates worldwide were found in Ireland and Wales, where three to four cases of myelomeningocele per 1000 population have been reported during the 1970s, along with more than six cases of anencephaly (both live births and stillbirths) per 1000 population. The reported overall incidence of myelomeningocele in the British Isles was 2.0–3.5 cases per 1000 births.[75][76] Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in 1998,[53] though this decline is partially accounted for because some fetuses are aborted when tests show signs of spina bifida (see Pregnancy screening above).
## Research[edit]
* 1980 – Fetal surgical techniques using animal models were first developed at the University of California, San Francisco by Michael R. Harrison, N. Scott Adzick and research colleagues.
* 1994 – A surgical model that simulates the human disease is the fetal lamb model of myelomeningocele (MMC) introduced by Meuli and Adzick in 1994. The MMC-like defect was surgically created at 75 days of gestation (term 145 to 150 days) by a lumbo-sacral laminectomy. Approximately 3 weeks after creation of the defect a reversed latissimus dorsi flap was used to cover the exposed neural placode and the animals were delivered by cesarean section just prior term. Human MMC-like lesions with similar neurological deficit were found in the control newborn lambs. In contrast, animals that underwent closure had near-normal neurological function and well-preserved cytoarchitecture of the covered spinal cord on histopathological examination. Despite mild paraparesis, they were able to stand, walk, perform demanding motor test and demonstrated no signs of incontinence. Furthermore, sensory function of the hind limbs was present clinically and confirmed electrophysiologically. Further studies showed that this model, when combined with a lumbar spinal cord myelotomy leads to the hindbrain herniation characteristic of the Chiari II malformation and that in utero surgery restores normal hindbrain anatomy by stopping the leak of cerebrospinal fluid through the myelomeningocele lesion.[78][79][80][81]
Surgeons at Vanderbilt University, led by Joseph Bruner, attempted to close spina bifida in 4 human fetuses using a skin graft from the mother using a laparoscope. Four cases were performed before stopping the procedure - two of the four fetuses died.[82]
* 1998 – N. Scott Adzick and team at The Children's Hospital of Philadelphia performed open fetal surgery for spina bifida in an early gestation fetus (22-week gestation fetus) with a successful outcome.[83] Open fetal surgery for myelomeningocele involves surgically opening the pregnant mother's abdomen and uterus to operate on the fetus. The exposed fetal spinal cord is covered in layers with surrounding fetal tissue at mid-gestation (19–25 weeks) to protect it from further damage caused by prolonged exposure to amniotic fluid. Between 1998 and 2003, Dr. Adzick, and his colleagues in the Center for Fetal Diagnosis and Treatment at The Children's Hospital Of Philadelphia, performed prenatal spina bifida repair in 58 mothers and observed significant benefit in the babies.
Fetal surgery after 25 weeks has not shown benefit in subsequent studies.[84]
### MOMS trial[edit]
Management of myelomeningocele study (MOMS) was a phase III clinical trial designed to compare two approaches to the treatment of spina bifida: surgery before birth and surgery after birth.[85][86]
The trial concluded that the outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. This conclusion requires a value judgment on the relative value of fetal and maternal outcomes on which opinion is still divided.[87]
To be specific, the study found that prenatal repair resulted in:
* Reversal of the hindbrain herniation component of the Chiari II malformation
* Reduced need for ventricular shunting (a procedure in which a thin tube is introduced into the brain's ventricles to drain fluid and relieve hydrocephalus)
* Reduced incidence or severity of potentially devastating neurologic effects caused by the spine's exposure to amniotic fluid, such as impaired motor function
[88] At one year of age, 40 percent of the children in the prenatal surgery group had received a shunt, compared to 83 percent of the children in the postnatal group. During pregnancy, all the fetuses in the trial had hindbrain herniation. However, at age 12 months, one-third (36 percent) of the infants in the prenatal surgery group no longer had any evidence of hindbrain herniation, compared to only 4 percent in the postnatal surgery group.[88] Further surveillance is ongoing.[89]
### Fetoscopic surgery[edit]
See also: Fetal surgery
In contrast to the open fetal operative approach performed in the MOMS trial, a minimally invasive fetoscopic approach (akin to 'keyhole' surgery) has been developed. This approach has been evaluated by independent authors of a controlled study which showed some benefit in survivors,[90] but others are more skeptical.[91]
The observations in mothers and their fetuses that were operated over the past two and a half years by the matured minimally invasive approach showed the following results: Compared to the open fetal surgery technique, fetoscopic repair of myelomeningocele results in far less surgical trauma to the mother, as large incisions of her abdomen and uterus are not required. In contrast, the initial punctures have a diameter of 1.2 mm only. As a result, thinning of the uterine wall or dehiscence which have been among the most worrisome and criticized complications after the open operative approach do not occur following minimally invasive fetoscopic closure of spina bifida aperta. The risks of maternal chorioamnionitis or fetal death as a result of the fetoscopic procedure run below 5%.[92][93][94] Women are discharged home from hospital one week after the procedure. There is no need for chronic administration of tocolytic agents since postoperative uterine contractions are barely ever observed. The current cost of the entire fetoscopic procedure, including hospital stay, drugs, perioperative clinical, ECG, ultrasound and MRI-examinations, is approximately €16,000.[citation needed]
In 2012, these results of the fetoscopic approach were presented at various national and international meetings, among them at the 1st European Symposium “Fetal Surgery for Spina bifida“ in April 2012 in Giessen, at the 15th Congress of the German Society for Prenatal Medicine and Obstetrics in May 2012 in Bonn,[95] at the World Congress of the Fetal Medicine Foundation in June 2012[96] and at the World Congress of the International Society of Obstetrics and Gynecology (ISUOG) in Copenhagen in September 2012,[97] and published in abstract form.[98][99][100][101][102][103][104][105][excessive citations]
Since then more data has emerged. In 2014, two papers were published on fifty one patients.[106][107] These papers suggested that the risk to the mother is small. The main risk appears to be preterm labour, on average at about 33 weeks.[citation needed]
## See also[edit]
* Meningohydroencephalocoele
* Rachischisis
* Congenital dermal sinus
## References[edit]
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## External links[edit]
* Spina bifida at Curlie
* CDC: Spina bifida
Classification
D
* ICD-10: Q05, Q76.0
* ICD-9-CM: 741, 756.17
* OMIM: 182940
* DiseasesDB: 12306
External resources
* eMedicine: orthoped/557
* Patient UK: Spina bifida
* v
* t
* e
Congenital malformations and deformations of nervous system
Brain
Neural tube defect
* Anencephaly
* Acephaly
* Acrania
* Acalvaria
* Iniencephaly
* Encephalocele
* Chiari malformation
Other
* Microcephaly
* Congenital hydrocephalus
* Dandy–Walker syndrome
* other reduction deformities
* Holoprosencephaly
* Lissencephaly
* Microlissencephaly
* Pachygyria
* Hydranencephaly
* Septo-optic dysplasia
* Megalencephaly
* Hemimegalencephaly
* CNS cyst
* Porencephaly
* Schizencephaly
* Polymicrogyria
* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
* Rachischisis
Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
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* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
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* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Spina bifida
|
c0080178
| 7,613 |
wikipedia
|
https://en.wikipedia.org/wiki/Spina_bifida
| 2021-01-18T19:07:02 |
{"gard": ["7673"], "mesh": ["D016135"], "icd-9": ["741", "756.17"], "icd-10": ["Q05", "Q76.0"], "orphanet": ["823"], "wikidata": ["Q844717"]}
|
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).
*[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
|
Cerebellar ataxia-hypogonadism syndrome
|
c1859305
| 7,614 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1173
| 2021-01-23T18:21:57 |
{"gard": ["3314"], "mesh": ["C565870"], "omim": ["212840", "605672"], "umls": ["C1859305"], "icd-10": ["G11.8"], "synonyms": ["Gordon-Holmes syndrome", "Luteinizing hormone-releasing hormone deficiency with ataxia"]}
|
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
|
None
| 7,615 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402020
| 2021-01-23T18:33:07 |
{"gard": ["12759"], "icd-10": ["C92.0"], "synonyms": ["AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"]}
|
A number sign (#) is used with this entry because autosomal dominant late-onset retinal degeneration can be caused by heterozygous mutation in the C1QTNF5 gene (CTRP5; 608752) on chromosome 11q23.
Description
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).
Clinical Features
Peripheral photoreceptor degenerations, such as retinitis pigmentosa (RP; 268000), cause symptoms early in the course of disease due to loss of rod function. Examination reveals defective vision in the mid-zone of the visual field and morphologic changes in the postequatorial retina. Cone degeneration follows rod degeneration with subsequent loss of central vision. Among the different types of RP, onset of nyctalopia due to loss of rod function varies from early childhood to early adulthood. Kuntz et al. (1996) described an autosomal dominant late-onset retinal degeneration characterized by nyctalopia in the sixth decade followed by severe visual loss by the eighth decade. Early clinical features included punctate yellow-white lesions, sometimes beginning unilaterally, accompanied by abnormal dark adaptation and abnormal electroretinography. Histopathology of an eye of an 80-year-old affected family donor showed a thick layer of extracellular deposits between the retinal pigment epithelium (RPE) and Bruch membrane underlying marked areas of photoreceptor loss, except in the inferior periphery.
Milam et al. (2000) studied another family with late-onset retinal degeneration, including the eyes of an 82-year-old donor, 5 of his descendants, and his affected sister. The pattern of the sub-RPE deposits (lipid, esterified, and nonesterified cholesterol) in the eyes of the donor differed from that of the donor eye studied by Kuntz et al. (1996). In the next generation, however, dark adaptation abnormalities mirrored the regional distribution (midperipheral) of the deposits in the eye studied by Kuntz et al. (1996). Milam et al. (2000) found that the fine structure and staining characteristics of the sub-RPE deposits in late-onset retinal degeneration resemble those in age-related macular degeneration (153800) and Sorsby fundus dystrophy (136900). They noted that 2 other autosomal dominant diseases characterized by focal yellow-white deposits (drusen) beneath the RPE, malattia leventinese (126600) and Doyne honeycomb retinal dystrophy (126600), are caused by mutations in a connective tissue gene, epidermal growth factor-containing fibrillin-like extracellular matrix-1 (601548). The authors therefore suggested that autosomal dominant late-onset retinal degeneration may involve mutations in a gene for an extracellular matrix protein.
Hayward et al. (2003) noted that the thick extracellular sub-RPE deposit associated with LORD extends from the central retina to the ora serrata. It contains protein and lipid and consists of an inner collagenous/mucopolysaccharide layer, an outer lipid layer, and a layer of neovascularization between the elastin layer of the Bruch membrane and the RPE. In later stages there is widespread loss of RPE and photoreceptors, with choroidal neovascularization and disciform macular scarring.
Mapping
Hayward et al. (2003) carried out a 10-cM genome scan in an extended family with LORD, which identified linkage to a 15-cM interval in chromosomal region 11q23.3.
Molecular Genetics
Hayward et al. (2003) demonstrated a proposed founder mutation in the CTRP5 gene (608752.0001), which encodes a novel short-chain collagen, as the cause of late-onset retinal degeneration (LORD) in 7 of 14 affected families. The mutation, which changed a highly conserved serine to arginine (S163R), occurred in the globular C1q domain of CTRP5 and resulted in abnormally high molecular weight aggregate formation, which may alter its higher order structure and interactions. The authors presented a novel disease mechanism involving abnormal adhesion between the RPE and Bruch membrane.
### Exclusion Studies
In patients with autosomal dominant late-onset retinal degeneration, Kuntz et al. (1996) detected no mutations in the coding sequence of the rhodopsin (180380), peripherin/RDS (PRPH2; 179605), or TIMP3 (188826) genes. Rhodopsin and TIMP3 were further excluded by linkage analysis.
Heterogeneity
Hayward et al. (2003) identified 2 families with LORD in which the disorder was not linked to the 11q23.3 region, demonstrating genetic heterogeneity. Additionally, in 1 family in whom mutations in the CTRP5 gene were found, 2 apparently affected individuals in 1 sibship did not carry the mutation. Haplotype analysis showed that neither of these affected individuals shared an extended 11q23 haplotype with affected members, strongly suggesting that their disorder resulted from some other molecular cause rather than from linkage disequilibrium with a nearby and causal mutation.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Night blindness beginning in the 6th decade \- Vision loss, severe, by the 8th decade \- Punctate yellow-white sub-retinal pigment epithelium (RPE) lesions \- Retinopathy may resemble retinitis pigmentosa \- Abnormal dark-adaptation, midperipheral scotoma \- Subnormal focal ERG corresponding to punctate yellow-white sub-RPE lesions \- Retinal pigment epithelium (RPE) thinning and photoreceptor loss correlate with thickness of sub-RPE deposits of lipid, esterified- and non-esterified cholesterol MOLECULAR BASIS \- Caused by mutation in the C1q- and tumor necrosis factor-related protein 5 gene (C1QTNF5, 608752.0001 ) ▲ 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
|
LATE-ONSET RETINAL DEGENERATION
|
c1854065
| 7,616 |
omim
|
https://www.omim.org/entry/605670
| 2019-09-22T16:11:08 |
{"doid": ["0060869"], "mesh": ["C565309"], "omim": ["605670"], "orphanet": ["67042"], "synonyms": ["Alternative titles", "RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT"]}
|
Some fruit juices and fruits can interact with numerous drugs, in many cases causing adverse effects.[1] The effect was first discovered accidentally, when a test of drug interactions with alcohol used grapefruit juice to hide the taste of the ethanol.[2]
The effect is most studied with grapefruit and grapefruit juice,[1] but similar effects have been observed with certain other citrus fruits.[1][3][4][5] One medical review advises patients to avoid all citrus juices until further research clarifies the risks.[6] Effects have been observed with apple juice, but their clinical significance is not yet known.[3][7][8]
One whole grapefruit, or a small glass (200 mL, 6.8 US fl oz) of grapefruit juice, can cause drug overdose toxicity.[1] Fruit consumed three days before the medicine can still have an effect.[9] The relative risks of different types of citrus fruit have not been systematically studied.[1] Affected drugs typically have an auxiliary label saying "Do not take with grapefruit" on the container, and the interaction is elaborated upon in the package insert.[10] People are also advised to ask their physician or pharmacist about drug interactions.[10]
The effects are caused by furanocoumarins (and, to a lesser extent, flavonoids).[11] These chemicals inhibit key drug metabolizing enzymes, such as cytochrome P450 3A4 (CYP3A4). CYP3A4 is a metabolizing enzyme for almost 50% of drugs, and is found in the liver and small intestinal epithelial cells.[12] As a result, many drugs are affected. Inhibition of enzymes can have two different effects, depending on whether the drug is either
1. metabolized by the enzyme to an inactive metabolite, or
2. activated by the enzyme to an active metabolite.
In the first instance, inhibition of drug-metabolizing enzymes results in elevated concentrations of an active drug in the body, which may cause adverse effects.[10] Conversely, if the medication is a prodrug, it needs to be metabolised to be converted to the active drug. Compromising its metabolism lowers concentrations of the active drug, reducing its therapeutic effect, and risking therapeutic failure.
Low drug concentrations can also be caused when the fruit suppresses drug absorption from the intestine.[13]
## Contents
* 1 History
* 2 Active ingredients
* 3 Mechanism
* 4 Duration and timing
* 4.1 Metabolism interactions
* 4.2 Absorption interactions
* 5 Affected fruit
* 5.1 Citrus genetics and interactions
* 5.1.1 Ancestral species
* 5.1.2 Hybrid cultivars
* 5.1.3 Inaccurate labeling
* 5.2 Other fruit and vegetables
* 5.2.1 Apple juice
* 5.2.2 Pomegranate juice
* 6 Affected drugs
* 6.1 Traits
* 6.2 Incomplete list of affected drugs
* 6.2.1 By enzyme
* 6.2.2 Other interactions
* 7 References
## History[edit]
The effect of grapefruit juice with regard to drug absorption was originally discovered in 1989. The first published clinical report on grapefruit drug interactions was in 1991 in The Lancet entitled "Interactions of Citrus Juices with Felodipine and Nifedipine."[14] However, the effect only became well-publicized after being responsible for a number of adverse interactions with various medications.[15]
## Active ingredients[edit]
Citrus fruits may contain a number of polyphenol compounds,[3][16] including the flavonoid naringin and furanocoumarins (such as bergamottin, dihydroxybergamottin, bergapten, and bergaptol).[citation needed] These are natural chemicals. They may be present in all forms of the fruit, including freshly squeezed juice, frozen concentrate, and whole fruit.[citation needed]
Grapefruit, Seville oranges,[16] bergamot,[17] and possibly other citrus also contain large amounts of naringin. It can take up to 72 hours before the effects of the naringin on the CYP3A4 enzyme are seen. This is problematic as a 4-ounce (110 g) portion of grapefruit contains enough naringin to inhibit the metabolism of substrates of CYP3A4. Naringin is a flavonoid which contributes to the bitter flavour of grapefruit.
Furanocoumarins seem to have a stronger effect than naringin under some circumstances.[16][18]
## Mechanism[edit]
This section may require cleanup to meet Wikipedia's quality standards. The specific problem is: lack of coherent overview Please help improve this section if you can. (August 2017) (Learn how and when to remove this template message)
Organic compounds that are derivatives of furanocoumarin interfere with liver and intestinal enzyme CYP3A4 and are believed to be primarily responsible for the effects of grapefruit on the enzyme.[19] Cytochrome isoforms affected by grapefruit components also include CYP1A2, CYP2C9, and CYP2D6.[20] Bioactive compounds in grapefruit juice may also interfere with MDR1 (multidrug resistance protein 1) and OATP (organic anion transporting polypeptides), either increasing or decreasing the bioavailability of a number of drugs.[15][21][22][23][24][25] Drugs that are metabolized by these enzymes may have interactions with citrus chemicals.
When drugs are taken orally, they enter the gut lumen to be absorbed in the small intestine and sometimes, in the stomach. In order for drugs to be absorbed, they must pass through the epithelial cells that line the lumen wall before they can enter the hepatic portal circulation to be distributed systemically in blood circulation. Drugs are metabolized by drug-specific metabolizing enzymes in the epithelial cells. Metabolizing enzymes transform these drugs into metabolites. The primary purpose for drug metabolism is to detoxify, inactivate, solubilize and eliminate these drugs.[26][verification needed] As a result, the amount of the drug in its original form that reaches systemic circulation is reduced due to this first-pass metabolism.
Furanocoumarins (see section above) irreversibly inhibit a metabolizing enzyme cytochrome P450 3A4 (CYP3A4). CYP3A4 is a metabolizing enzyme for almost 50% of drugs, and is found in the liver and small intestinal epithelial cells.[12] As a result, many drugs are impacted by consumption of citrus juice. When the metabolizing enzyme is inhibited, less of the drug will be metabolized by it in the epithelial cells. A decrease in drug metabolism means more of the original form of the drug could pass unchanged to systemic blood circulation.[26][verification needed] An unexpected high dose of the drug in the blood could lead to fatal drug toxicity.[12]
The CYP3A4 is located in both the liver and the enterocytes. Many oral drugs undergo first-pass (presystemic) metabolism by the enzyme. Several organic compounds (see section above) found in citrus and specifically in grapefruit juice exert inhibitory action on drug metabolism by the enzyme.
This interaction is particularly dangerous when the drug in question has a low therapeutic index, so that a small increase in blood concentration can be the difference between therapeutic effect and toxicity. Citrus juice inhibits the enzyme only within the intestines if consumed in small amounts. Intestinal enzyme inhibition will only affect the potency of orally administrated drugs.
When larger amounts are consumed they may also inhibit the enzyme in the liver. The hepatic enzyme inhibition may cause an additional increase in potency and a prolonged metabolic half-life (prolonged metabolic half-life for all ways of drug administration).[27] The degree of the effect varies widely between individuals and between samples of juice, and therefore cannot be accounted for a priori.
Another mechanism of interaction is possibly through the MDR1 (multidrug resistance protein 1) that is localized in the apical brush border of the enterocytes. P-glycoprotein (Pgp) transports lipophilic molecules out of the enterocyte back into the intestinal lumen. Drugs that possess lipophilic properties are either metabolised by CYP3A4 or removed into the intestine by the Pgp transporter. Both the Pgp and CYP3A4 may act synergistically as a barrier to many orally administered drugs. Therefore, their inhibition (both or alone) can markedly increase the bioavailability of a drug.[28][better source needed][clarification needed]
## Duration and timing[edit]
### Metabolism interactions[edit]
Grapefruit–drug interactions that affect the pre-systemic metabolism (i.e., the metabolism that occurs before the drug enters the blood) of drugs have a different duration of action than interactions that work by other mechanisms, such as on absorption, discussed below.[12]
The interaction is greatest when the juice is ingested with the drug or up to 4 hours before the drug.[9][better source needed][original research?][29][30]
The location of the inhibition occurs in the lining of the intestines, not within the liver.[31] The effects last because grapefruit-mediated inhibition of drug metabolizing enzymes, like CYP3A4, is irreversible;[31] that is, once the grapefruit has "broken" the enzyme, the intestinal cells must produce more of the enzyme to restore their capacity to metabolize drugs that the enzyme is used to metabolize.[12] It takes around 24 hours to regain 50% of the cell's baseline enzyme activity and it can take 72 hours for the enzyme activity to completely return to baseline. For this reason, simply separating citrus consumption and medications taken daily does not avoid the drug interaction.[9]
### Absorption interactions[edit]
For medications that interact due to inhibition of OATP (organic anion-transporting polypeptides), a relative short period of time is needed to avoid this interaction, and a 4-hour interval between grapefruit consumption and the medication should suffice.[12][28] For drugs recently sold on the market, drugs have information pages (monographs) that provide information on any potential interaction between a medication and grapefruit juice.[12] Because there is a growing number of medications that are known to interact with citrus,[1] patients should consult a pharmacist or physician before consuming citrus while taking their medications.
## Affected fruit[edit]
Grapefruit is not the only citrus fruit that can interact with medications.[1][3][4][5] One medical review advised patients to avoid all citrus.[6]
There are three ways to test if a fruit interacts with drugs:
1. Test a drug-fruit combination in humans[6]
2. Test a fruit chemically for the presence of the interacting polyphenol compounds
3. Test a fruit genetically for the genes needed to make the interacting polyphenol compounds[32]
The first approach involves risk to trial volunteers. The first and second approaches have another problem: the same fruit cultivar could be tested twice with different results. Depending on growing and processing conditions, concentrations of the interacting polyphenol compounds can vary dramatically.[33][better source needed] The third approach is hampered by a paucity of knowledge of the genes in question.[32]
### Citrus genetics and interactions[edit]
Citrus fruits clustered by genetic similarity. Most commercial varieties of citrus are hybrids of the three species at the corners of the ternary diagram, and genetically distinct hybrids often bear the same common name.[34] Fucomarin production has been inherited by some hybrid cultivars; others have not inherited the fucomarin-producing genes.
A descendant of citrus cultivars that cannot produce the problematic polyphenol compounds would presumably also lack the genes to produce them. Many citrus cultivars are hybrids of a small number of ancestral species, which have now been fully genetically sequenced.[34][35]
Many traditional citrus groups, such as true sweet oranges and lemons, seem to be bud sports, mutant descendants of a single hybrid ancestor.[36] In theory, cultivars in a bud sport group would be either all safe or all problematic. However, new citrus varieties arriving on the market are increasingly likely to be sexually created hybrids, not asexually created sports.
The ancestry of a hybrid cultivar may not be known. Even if it is known, it is not possible to be certain that a cultivar will not interact with drugs on the basis of taxonomy, as it is not known which ancestors lack the capacity to make the problematic polyphenol compounds. However, many of the citrus cultivars known to be problematic seem to be closely related.
#### Ancestral species[edit]
Pomelo (the Asian fruit that was crossed with an orange to produce grapefruit) contains high amounts of furanocoumarin derivatives. Grapefruit relatives and other varieties of pomelo have variable amounts of furanocoumarin.[6][3][37][38]
The Dancy cultivar has a small amount of pomelo ancestry,[35] but is genetically close to a non-hybrid true mandarin (unlike most commercial mandarins, which may have much more extensive hybridization). Eight Dancy fruits, all picked at one time from one tree, have been blended and tested for furanocoumarins; none were detectable.[37]
No citron or papeda seems to have been tested.
#### Hybrid cultivars[edit]
Both sweet oranges and bitter oranges are mandarin-pomelo hybrids.[35][36] Bitter oranges (such as the Seville oranges often used in marmalade) can interfere with drugs[39] including etoposide, a chemotherapy drug, some beta blocker drugs used to treat high blood pressure, and cyclosporine, taken by transplant patients to prevent rejection of their new organs.[7] Evidence on sweet oranges is more mixed.[6]
Tests on some tangelos (hybrids of mandarins/tangerines and pomelo or grapefruit) have not shown significant amounts of furanocoumarin; these studies were also conducted on eight fruit all picked at one time from one tree.[37]
Common lemons are the product of orange/citron hybridization, and hence have pomelo ancestry, and although Key limes are papeda/citron hybrids, the more commercially prevalent Persian limes and similar varieties are crosses of the Key lime with lemons, and hence likewise have pomelo ancestry.[34][35] These limes can also inhibit drug metabolism.[39] Other less-common citrus species also referred to as lemons or limes are genetically distinct from the more common varieties, with different proportions of pomelo ancestry.[34]
#### Inaccurate labeling[edit]
Marketing classifications often do not correspond to taxonomic ones. The "Ambersweet" cultivar is classified and sold as an orange, but does not descend from the same common ancestor as sweet oranges; it has grapefruit, orange, and mandarin ancestry. Fruits are often sold as mandarin, tangerine, or satsuma (which may be synonyms[40]). Fruit sold under these names include many which are, like Sunbursts and Murcotts, hybrids with grapefruit ancestry.[37][41][42] The diversity of fruits called limes is remarkable; some, like the Spanish lime and Wild lime, are not even citrus fruit.
In some countries, citrus fruit must be labelled with the name of a registered cultivar. Juice is often not so labelled. Some medical literature also names the cultivar tested.
### Other fruit and vegetables[edit]
The discovery that flavonoids are responsible for some interactions make it plausible that other fruit and vegetables are affected.[28]
#### Apple juice[edit]
Apple juice, especially commercially produced products, interferes with the action of OATPs.[43] This interference can decrease the absorption of a variety of commonly used medications, including beta blockers like atenolol, antibiotics like ciprofloxacin, and antihistamines like montelukast.[43] Apple juice has been implicated in interfering with etoposide, a chemotherapy drug, and cyclosporine, taken by transplant patients to prevent rejection of their new organs.[7][medical citation needed]
#### Pomegranate juice[edit]
Pomegranate juice inhibits the action of the drug metabolizing enzymes CYP2C9 and CYP3A4.[44] However, as of 2014, the currently available literature does not appear to indicate a clinically relevant impact of pomegranate juice on drugs that are metabolized by CYP2C9 and CYP3A4.[44]
## Affected drugs[edit]
This list is incomplete; you can help by adding missing items with reliable sources.
Researchers have identified over 85 drugs with which grapefruit is known to have an adverse reaction.[45][1] According to a review done by the Canadian Medical Association,[1] there is an increase in the number of potential drugs that can interact with grapefruit juice, and of the number of fruit types that can interact with those drugs. From 2008 to 2012, the number of drugs known to potentially interact with grapefruit, with risk of harmful or even dangerous effects (gastrointestinal bleeding, nephrotoxicity), increased from 17 to 43.[1]
### Traits[edit]
The interaction between citrus and medication depends on the individual drug, and not the class of the drug. Drugs that interact usually share three common features: they are taken orally, normally only a small amount enters systemic blood circulation, and they are metabolized by CYP3A4.[1] However, the effects on the CYP3A4 in the liver could in principle cause interactions with non-oral drugs,[citation needed] and non-CYP3A4-mediated effects also exist.[28]
Cytochrome isoforms affected by grapefruit components include CYP3A4, CYP1A2, CYP2C9, and CYP2D6.[20] Drugs that are metabolized by these enzymes may have interactions with components of grapefruit.
An easy way to tell if a medication may be affected by grapefruit juice is by researching whether another known CYP3A4 inhibitor drug is already contraindicated with the active drug of the medication in question. Examples of such known CYP3A4 inhibitors include cisapride (Propulsid),[citation needed] erythromycin, itraconazole (Sporanox), ketoconazole (Nizoral), and mibefradil (Posicor).[46]
### Incomplete list of affected drugs[edit]
#### By enzyme[edit]
Drugs that interact with grapefruit compounds at CYP3A4 include
* benzodiazepines: triazolam (Halcion), orally administered midazolam (Versed), orally administered nitrazepam (Mogodon), diazepam (Valium),[47] clonazepam[48][49] (Klonopin), alprazolam (Xanax) and quazepam (Doral, Dormalin)[50]
* ritonavir (Norvir): Inhibition of CYP3A4 prevents the metabolism of protease inhibitors such as ritonavir.[51]
* sertraline (Zoloft and Lustral)[52]
* verapamil (Covera-HS, Calan, Verelan, and Isoptin)[53]
Drugs that interact with grapefruit compounds at CYP1A2 include
* caffeine[54]
Drugs that interact with grapefruit compounds at CYP2D6 include
* dextroamphetamine (Dexedrine)[55]
* levoamphetamine (Adderall)[56]
* methamphetamine (Desoxyn)[57]
Research has been done on the interaction between amphetamines and CYP2D6 enzyme, and researchers concluded that some parts of substrate molecules contribute to the binding of the enzyme.[58]
#### Other interactions[edit]
Additional drugs found to be affected by grapefruit juice include, but are not limited to
* Some statins, including atorvastatin (Lipitor),[59] lovastatin (Mevacor), and simvastatin (Zocor, Simlup, Simcor, Simvacor)[60]
* In contrast, pravastatin (Pravachol),[59] fluvastatin (Lescol), and rosuvastatin (Crestor)[60] are unaffected by grapefruit.
* Anti-arrhythmics including amiodarone (Cordarone), dronedarone (Multaq), quinidine (Quinidex, Cardioquin, Quinora), disopyramide (Norpace), propafenone (Rythmol) and carvedilol (Coreg)[60]
* Amlodipine: Grapefruit increases the available amount of the drug in the blood stream, leading to an unpredictable increase in antihypertensive effects.
* Anti-migraine drugs ergotamine (Cafergot, Ergomar), amitriptyline (Elavil, Endep, Vanatrip) and nimodipine (Nimotop)[60]
* Erectile dysfunction drugs sildenafil (Viagra), tadalafil (Cialis) and vardenafil (Levitra)[60][61]
* Acetaminophen/paracetamol (Tylenol) concentrations were found to be increased in murine blood by white and pink grapefruit juice, with the white juice acting faster.[62] "The bioavailability of paracetamol was significantly reduced following multiple GFJ administration" in mice and rats. This suggests that repeated intake of grapefruit juice reduces the efficacy and bioavailability of acetaminophen/paracetamol in comparison with a single dose of grapefruit juice, which conversely increases the efficacy and bioavailability of acetaminophen/paracetamol.[63][64]
* Anthelmintics: Used for treating certain parasitic infections; includes praziquantel
* Buprenorphine: Metabolized into norbuprenorphine by CYP3A4[65]
* Buspirone (Buspar): Grapefruit juice increased peak and AUC plasma concentrations of buspirone 4.3- and 9.2-fold, respectively, in a randomized, 2-phase, ten-subject crossover study.[66]
* Codeine is a prodrug that produces its analgesic properties following metabolism to morphine entirely by CYP2D6.[67]
* Ciclosporin (cyclosporine, Neoral): Blood levels of ciclosporin are increased if taken with grapefruit juice, orange juice, or apple juice.[7] A plausible mechanism involves the combined inhibition of enteric CYP3A4 and MDR1, which potentially leads to serious adverse events (e.g., nephrotoxicity). Blood levels of tacrolimus (Prograf) can also be equally affected for the same reason as ciclosporin, as both drugs are calcineurin inhibitors.[68]
* Dihydropyridines including felodipine (Plendil), nicardipine (Cardene), nifedipine, nisoldipine (Sular) and nitrendipine (Bayotensin)[60]
* Erlotinib (Tarceva)[69]
* Exemestane, aromasin, and by extension all estrogen-like compounds and aromatase inhibitors which mimic estrogen in function will be increased in effect, causing increased estrogen retention and increased drug retention.[70]
* Etoposide interferes with grapefruit, orange, and apple juices.[7]
* Fexofenadine (Allegra) concentrations are decreased rather than increased as is the case with most grapefruit-drug interactions.[71][72]
* Fluvoxamine (Luvox, Faverin, Fevarin and Dumyrox)[73]
* Imatinib (Gleevec): Although no formal studies with imatinib and grapefruit juice have been conducted, the fact that grapefruit juice is a known inhibitor of the CYP 3A4 suggests that co-administration may lead to increased imatinib plasma concentrations. Likewise, although no formal studies were conducted, co-administration of imatinib with another specific type of citrus juice called Seville orange juice (SOJ) may lead to increased imatinib plasma concentrations via inhibition of the CYP3A isoenzymes. Seville orange juice is not usually consumed as a juice because of its sour taste, but it is found in marmalade and other jams. Seville orange juice has been reported to be a possible inhibitor of CYP3A enzymes without affecting MDR1 when taken concomitantly with ciclosporin.[74]
* Ketamine: After drinking 200 mL of grapefruit juice daily for five days, the overall absorption of orally ingested ketamine was three-fold compared to a control group of a clinical trial. The peak blood ketamine concentration was over two-fold.[75]
* Levothyroxine (Eltroxin, Levoxyl, Synthroid): "Grapefruit juice may slightly delay the absorption of levothyroxine, but it seems to have only a minor effect on its bioavailability."[clarification needed][76]
* Losartan (Cozaar)[60]
* Methadone: Inhibits the metabolism of methadone and raises serum levels.[77]
* Omeprazole (Losec, Prilosec)[78]
* Oxycodone: grapefruit juice enhances the exposure to oral oxycodone. And a randomized, controlled trial 12 healthy volunteers ingested 200 mL of either grapefruit juice or water three times daily for five days. On the fourth day 10 mg of oxycodone hydrochloride were administered orally. Analgesic and behavioral effects were reported for 12 hours and plasma samples were analyzed for oxycodone metabolites for 48 hours. Grapefruit juice and increased the mean area under the oxycodone concentration-time curve (AUC(0-∞)) by 1.7 fold, the peak plasma concentration by 1.5-fold and the half-life of oxycodone by 1.2-fold as compared to water. The metabolite-to-parent ratios of noroxycodone and noroxymorphone decreased by 44% and 45% respectively. Oxymorphone AUC(0-∞) increased by 1.6-fold but the metabolite-to-parent ratio remained unchanged.[79]
* Quetiapine (Seroquel)[80]
* Repaglinide (Prandin)[60]
* Tamoxifen (Nolvadex): Tamoxifen is metabolized by CYP2D6 into its active metabolite 4-hydroxytamoxifen. Grapefruit juice may potentially reduce the effectiveness of tamoxifen.[81]
* Trazodone (Desyrel): Little or no interaction with grapefruit juice.[82]
* Verapamil (Calan SR, Covera HS, Isoptin SR, Verelan)[60]
* Warfarin (coumadin)[83]
* Zolpidem (Ambien): Little or no interaction with grapefruit juice.[82]
Drugs affected by grapefruit juice[39](unrelated source?) Drug class Major Interactions Minor interactions
Antiarrhythmic agents amiodarone (Cordarone)
dronedarone (Multaq)
dofetilide (Tikosyn)
Antihistamines terfenadine (Seldane) (off the market)
diphenhydramine (Benadryl) (partially)
astemizole (Hismanal) (off the market)
Calcium channel antagonists felodipine (Plendil)
nicardipine (Cardene)
nifedipine (Procardia)
nimodipine (Nimotop)
nisoldipine (Sular)
isradipine (DynaCirc)
Statins (HMG-CoA reductase inhibitors) simvastatin (Zocor)
lovastatin (Mevacor) atorvastatin (Lipitor)
cerivastatin (Baycol) (off the market)
Cough Suppressant/NMDA Antagonist dextromethorphan
Erectile dysfunction drugs sildenafil (Viagra)
tadalafil (Cialis)
vardenafil (Levitra)
HIV protease inhibitors saquinavir (Invirase)
ritonavir (Norvir)
nelfinavir (Viracept)
amprenavir (Agenerase)
Hormones ethinylestradiol (Ortho-Cept, many others)
methylprednisolone (Medrol)
Immunosuppressants ciclosporin (Sandimmune Neoral)
tacrolimus (Prograf)
sirolimus (Rapamune)
mercaptopurine
Sedatives, hypnotics, and anxiolytics buspirone (Buspar) triazolam (Halcion)
midazolam (Versed)
diazepam (Valium)
zaleplon (Sonata)
alprazolam (Xanax)
clonazepam (Klonopin)
ketamine
Other psychotropics carbamazepine (Tegretol)
trazodone (Desyrel)
quetiapine (Seroquel)
fluvoxamine (Luvox)
nefazodone (Serzone)
Other miscellaneous drugs cisapride (Prepulsid, Propulsid)[84]
ivabradine (Corlanor)[85]
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54. ^ Fuhr, Uwe (1998). "Drug Interactions with Grapefruit Juice". Drug Safety. 18 (4): 251–272. doi:10.2165/00002018-199818040-00002. PMID 9565737.
55. ^ Wu D, Otton SV, Inaba T, Kalow W, Sellers EM (June 1997). "Interactions of amphetamine analogs with human liver CYP2D6". Biochemical Pharmacology. 53 (11): 1605–12. doi:10.1016/S0006-2952(97)00014-2. PMID 9264312.
56. ^ Preissner S, Kroll K, Dunkel M, et al. (January 2010). "SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions". Nucleic Acids Research. 38 (Database issue): D237–43. doi:10.1093/nar/gkp970. PMC 2808967. PMID 19934256.
57. ^ Shah A, Kumar S, Simon SD, Singh DP, Kumar A (2013). "HIV gp120- and methamphetamine-mediated oxidative stress induces astrocyte apoptosis via cytochrome P450 2E1". Cell Death & Disease. 4 (10): e850. doi:10.1038/cddis.2013.374. PMC 3824683. PMID 24113184.
58. ^ "Metabolism/ Metabolites of amphetamines interacting with The Cytochrome P450 CYP2D6 enzyme". U.S. National Library of Medicine.[verification needed]
59. ^ a b Lilja JJ, Kivistö KT, Neuvonen PJ (August 1999). "Grapefruit juice increases serum concentrations of atorvastatin and has no effect on pravastatin". Clinical Pharmacology and Therapeutics. 66 (2): 118–27. doi:10.1053/cp.1999.v66.100453001. PMID 10460065.
60. ^ a b c d e f g h i Bailey DG, Dresser GK (2004). "Interactions between grapefruit juice and cardiovascular drugs". American Journal of Cardiovascular Drugs. 4 (5): 281–97. doi:10.2165/00129784-200404050-00002. PMID 15449971.
61. ^ Jetter A, Kinzig-Schippers M, Walchner-Bonjean M, et al. (January 2002). "Effects of grapefruit juice on the pharmacokinetics of sildenafil". Clinical Pharmacology and Therapeutics. 71 (1): 21–9. doi:10.1067/mcp.2002.121236. PMID 11823754.
62. ^ Dasgupta A, Reyes MA, Risin SA, Actor JK (December 2008). "Interaction of white and pink grapefruit juice with acetaminophen (paracetamol) in vivo in mice". Journal of Medicinal Food. 11 (4): 795–8. doi:10.1089/jmf.2008.0059. PMID 19053875.
63. ^ Qinna, Nidal A.; Ismail, Obbei A.; Alhussainy, Tawfiq M.; Idkaidek, Nasir M.; Arafat, Tawfiq A. (1 April 2016). "Evidence of reduced oral bioavailability of paracetamol in rats following multiple ingestion of grapefruit juice". European Journal of Drug Metabolism and Pharmacokinetics. 41 (2): 187–195. doi:10.1007/s13318-014-0251-4. PMID 25547640.
64. ^ Samojlik, I.; Rasković, A.; Daković-Svajcer, K.; Mikov, M.; Jakovljević, V. (1 July 1999). "The effect of paracetamol on peritoneal reflex after single and multiple grapefruit ingestion". Experimental and Toxicologic Pathology. 51 (4–5): 418–420. doi:10.1016/S0940-2993(99)80032-3. PMID 10445408.
65. ^ Elkader A, Sproule B (2005). "Buprenorphine: clinical pharmacokinetics in the treatment of opioid dependence". Clinical Pharmacokinetics. 44 (7): 661–80. doi:10.2165/00003088-200544070-00001. PMID 15966752.
66. ^ Lilja JJ, Kivistö KT, Backman JT, Lamberg TS, Neuvonen PJ (December 1998). "Grapefruit juice substantially increases plasma concentrations of buspirone". Clinical Pharmacology and Therapeutics. 64 (6): 655–60. doi:10.1016/S0009-9236(98)90056-X. PMID 9871430.
67. ^ Smith, Howard S. (1 July 2009). "Opioid Metabolism". Mayo Clinic Proceedings. 84 (7): 613–624. doi:10.4065/84.7.613. PMC 2704133. PMID 19567715.
68. ^ Paine MF, Widmer WW, Pusek SN, et al. (April 2008). "Further characterization of a furanocoumarin-free grapefruit juice on drug disposition: studies with cyclosporine". The American Journal of Clinical Nutrition. 87 (4): 863–71. doi:10.1093/ajcn/87.4.863. PMID 18400708.
69. ^ "HIGHLIGHTS OF PRESCRIBING INFORMATION" (PDF). Gene. Retrieved 28 January 2013.
70. ^ Burnett, Bruce (1 September 2014). "Exemestane (Aromasin)". Macmillan Cancer Support. Retrieved 17 July 2017.
71. ^ Dresser GK, Kim RB, Bailey DG (March 2005). "Effect of grapefruit juice volume on the reduction of fexofenadine bioavailability: possible role of organic anion transporting polypeptides". Clinical Pharmacology and Therapeutics. 77 (3): 170–7. doi:10.1016/j.clpt.2004.10.005. PMID 15735611.
72. ^ Yael Waknine (1 January 2007). "FDA Safety Changes: Allegra, Cymbalta, Concerta". Medscape Medical News.
73. ^ Hori H, Yoshimura R, Ueda N, et al. (August 2003). "Grapefruit juice-fluvoxamine interaction--is it risky or not?". Journal of Clinical Psychopharmacology. 23 (4): 422–4. doi:10.1097/01.jcp.0000085423.74359.f2. PMID 12920426.
74. ^ Jhaveri, Limca. "Novartis Answers About Gleevec". GIST Support International. Archived from the original on 23 January 2011. Retrieved 31 December 2010.
75. ^ Peltoniemi, Marko A.; Saari, Teijo I.; Hagelberg, Nora M.; Laine, Kari; Neuvonen, Pertti J.; Olkkola, Klaus T. (June 2012). "S-ketamine concentrations are greatly increased by grapefruit juice". European Journal of Clinical Pharmacology. 68 (6): 979–986. doi:10.1007/s00228-012-1214-9. ISSN 1432-1041. PMID 22286159.
76. ^ Lilja JJ, Laitinen K, Neuvonen PJ (September 2005). "Effects of grapefruit juice on the absorption of levothyroxine". British Journal of Clinical Pharmacology. 60 (3): 337–41. doi:10.1111/j.1365-2125.2005.02433.x. PMC 1884777. PMID 16120075.
77. ^ Benmebarek M, Devaud C, Gex-Fabry M, et al. (July 2004). "Effects of grapefruit juice on the pharmacokinetics of the enantiomers of methadone". Clinical Pharmacology and Therapeutics. 76 (1): 55–63. doi:10.1016/j.clpt.2004.03.007. PMID 15229464.
78. ^ Mouly S, Paine MF (August 2001). "Effect of grapefruit juice on the disposition of omeprazole". British Journal of Clinical Pharmacology. 52 (2): 216–7. doi:10.1111/j.1365-2125.1978.00999.pp.x. PMC 2014525. PMID 11488783.
79. ^ Nieminen, Tuija H.; Hagelberg, Nora M.; Saari, Teijo I.; Neuvonen, Mikko; Neuvonen, Pertti J.; Laine, Kari; Olkkola, Klaus T. (1 October 2010). "Grapefruit juice enhances the exposure to oral oxycodone". Basic & Clinical Pharmacology & Toxicology. 107 (4): 782–788. doi:10.1111/j.1742-7843.2010.00582.x. PMID 20406214.
80. ^ "Grapefruit Interactions" (PDF). healthCentral. Archived from the original (PDF) on 18 November 2012. Retrieved 28 January 2013.
81. ^ Beverage JN, Sissung TM, Sion AM, Danesi R, Figg WD (September 2007). "CYP2D6 polymorphisms and the impact on tamoxifen therapy". Journal of Pharmaceutical Sciences. 96 (9): 2224–31. doi:10.1002/jps.20892. PMID 17518364.
82. ^ a b "Grapefruit and medication: A cautionary note". Harvard Medical School Family Health Guide. February 2006. Retrieved 28 January 2013.
83. ^ Jellin J.M., et al. Pharmacist's Letter/Prescriber's Letter of Natural Medicines Comprehensive Database. 7th ed. Stockton, CA: Therapeutic Research Faculty. 2005. 626-629
84. ^ Gross AS, Goh YD, Addison RS, Shenfield GM (April 1999). "Influence of grapefruit juice on cisapride pharmacokinetics". Clinical Pharmacology and Therapeutics. 65 (4): 395–401. doi:10.1016/S0009-9236(99)70133-5. PMID 10223776.
85. ^ "Corlanor (ivabradine) dose, indications, adverse effects, interactions..." PDR.net.
*[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
|
Grapefruit–drug interactions
|
None
| 7,617 |
wikipedia
|
https://en.wikipedia.org/wiki/Grapefruit%E2%80%93drug_interactions
| 2021-01-18T19:07:17 |
{"wikidata": ["Q5597010"]}
|
A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.
*[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
|
Combined immunodeficiency due to IL21R deficiency
|
c3554687
| 7,618 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357329
| 2021-01-23T17:18:41 |
{"omim": ["615207"], "icd-10": ["D81.8"]}
|
A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.
*[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
|
Idiopathic optic perineuritis
|
None
| 7,619 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=499107
| 2021-01-23T18:15:51 |
{"synonyms": ["Idiopathic OPN"]}
|
## Description
NOTCH2NLR appears to be a nonfunctional pseudogene derived from a partial duplication of the NOTCH2 gene (600275) (Fiddes et al., 2018).
Cloning and Expression
Independently, Fiddes et al. (2018) and Suzuki et al. (2018) identified 4 NOTCH2 paralogs in the human genome resulting from segmental duplications of the ancestral NOTCH2 gene that they called NOTCH2NLA (618023), NOTCH2NLB (618024), NOTCH2NLC (618025), and NOTCH2NLR. NOTCH2NLA, NOTCH2NLB, and NOTCH2NLC encode functional NOTCH2-like proteins. Fiddes et al. (2018) determined that NOTCH2NLR is likely a transcribed pseudogene.
Fiddes et al. (2018) examined human fetal brains and found that the expression pattern of NOTCH2NL genes closely resembled that of NOTCH2, with highest NOTCH2L expression in various radial glia populations, including outer radial glia, as well as astrocytes and microglia.
Using RNA sequencing analysis, Suzuki et al. (2018) found that NOTCH2NLA and NOTCH2NLB were expressed throughout corticogenesis in human fetal cortices, with NOTCH2NLB showing higher expression than NOTCH2NLA. NOTCH2NLC and NOTCH2NLR exhibited low expression throughout corticogenesis. Quantitative RT-PCR followed by direct sequencing confirmed that NOTCH2NLB showed highest expression, followed by NOTCH2NLA, NOTCH2NLC, and NOTCH2NLR. RNA in situ hybridization showed that the NOTCH2NL genes were expressed throughout the ventricular zone in a salt-and-pepper pattern at early stages, whereas NOTCH2 was expressed mostly along the apical part of the ventricular zone. At later stages, NOTCH2 and the NOTCH2NL genes were all expressed in radial glial cells in the outer subventricular zone.
Gene Structure
Independently, Fiddes et al. (2018) and Suzuki et al. (2018) determined that the NOTCH2NL genes, including NOTCH2NLR, contain 5 exons. The first 4 exons of the NOTCH2NL genes correspond to the first 4 exons of the NOTCH2 gene, and exon 5 corresponds to an intronic region of NOTCH2. Fiddes et al. (2018) reported that exon 5 of NOTCH2NLA, NOTCH2NLB, and NOTCH2NLC has a 4-bp deletion compared with the corresponding sequence in NOTCH2, and mutational analysis showed that this 4-bp deletion is essential for NOTCH2NL protein expression. In contrast, NOTCH2NLR lacks the 4-bp deletion and contains many coding variants relative to NOTCH2 and the other NOTCH2NL paralogs, indicating that it is likely a nonfunctional pseudogene.
Mapping
Independently, Fiddes et al. (2018) and Suzuki et al. (2018) mapped the NOTCH2NLR pseudogene to chromosome 1p11.2, near the NOTCH2 gene. They mapped the NOTCH2NLA, NOTCH2NLB, and NOTCH2NLC genes to chromosome 1q21.1.
*[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
|
NOTCH2 N-TERMINAL-LIKE R
|
None
| 7,620 |
omim
|
https://www.omim.org/entry/618026
| 2019-09-22T15:43:53 |
{"omim": ["618026"], "synonyms": ["Alternative titles", "NOTCH2 N-TERMINAL-LIKE-RELATED, PSEUDOGENE"]}
|
Hyperosmolar hyperglycemic state
Other namesHyperosmolar hyperglycemic nonketotic coma (HHNC), hyperosmolar non-ketotic coma (HONK), nonketotic hyperosmolar coma, hyperosmolar hyperglycemic nonketotic syndrome (HHNS)[1]
SpecialtyEndocrinology
SymptomsSigns of dehydration, altered level of consciousness[2]
ComplicationsDisseminated intravascular coagulopathy, mesenteric artery occlusion, rhabdomyolysis[2]
Usual onsetDays to weeks[3]
DurationFew days[3]
Risk factorsInfections, stroke, trauma, certain medications, heart attacks[4]
Diagnostic methodBlood tests[2]
Differential diagnosisDiabetic ketoacidosis[2]
TreatmentIntravenous fluids, insulin, low molecular weight heparin, antibiotics[3]
Prognosis~15% risk of death[4]
FrequencyRelatively common[2]
Hyperosmolar hyperglycemic state (HHS) is a complication of diabetes mellitus in which high blood sugar results in high osmolarity without significant ketoacidosis.[4] Symptoms include signs of dehydration, weakness, leg cramps, vision problems, and an altered level of consciousness.[2] Onset is typically over days to weeks.[3] Complications may include seizures, disseminated intravascular coagulopathy, mesenteric artery occlusion, or rhabdomyolysis.[2]
The main risk factor is a history of diabetes mellitus type 2.[4] Occasionally it may occur in those without a prior history of diabetes or those with diabetes mellitus type 1.[3][4] Triggers include infections, stroke, trauma, certain medications, and heart attacks.[4] Diagnosis is based on blood tests finding a blood sugar greater than 30 mmol/L (600 mg/dL), osmolarity greater than 320 mOsm/kg, and a pH above 7.3.[2][3]
Initial treatment generally consists of intravenous fluids to manage dehydration, intravenous insulin in those with significant ketones, low molecular weight heparin to decrease the risk of blood clotting, and antibiotics among those in whom there are concerns of infection.[3] The goal is a slow decline in blood sugar levels.[3] Potassium replacement is often required as the metabolic problems are corrected.[3] Efforts to prevent diabetic foot ulcers are also important.[3] It typically takes a few days for the person to return to baseline.[3]
While the exact frequency of the condition is unknown, it is relatively common.[2][4] Older people are most commonly affected.[4] The risk of death among those affected is about 15%.[4] It was first described in the 1880s.[4]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Criteria
* 4.2 Imaging
* 4.3 Differential diagnosis
* 5 Management
* 5.1 Intravenous fluids
* 5.2 Electrolyte replacement
* 5.3 Insulin
* 6 References
* 7 External links
## Signs and symptoms[edit]
Symptoms of high blood sugar including increased thirst (polydipsia), increased volume of urination (polyuria), and increased hunger (polyphagia).[5]
Symptoms of HHS include:
* Altered level of consciousness
* Neurologic signs including: blurred vision, headaches, focal seizures, myoclonic jerking, reversible paralysis[5]
* Motor abnormalities including flaccidity, depressed reflexes, tremors or fasciculations
* Hyperviscosity and increased risk of blood clot formation
* Dehydration[5]
* Weight loss[5]
* Nausea, vomiting, and abdominal pain[5]
* Weakness[5]
* Low blood pressure with standing[5]
## Cause[edit]
The main risk factor is a history of diabetes mellitus type 2.[4] Occasionally it may occur in those without a prior history of diabetes or those with diabetes mellitus type 1.[3][4] Triggers include infections, stroke, trauma, certain medications, and heart attacks.[4]
Other risk factors:
* Lack of sufficient insulin (but enough to prevent ketosis)[5]
* Poor kidney function[5]
* Poor fluid intake (dehydration)[5]
* Older age (50–70 years)[5]
* Certain medical conditions (cerebral vascular injury, myocardial infarction, sepsis)[5]
* Certain medications (glucocorticoids, beta-blockers, thiazide diuretics, calcium channel blockers, and phenytoin)[5]
## Pathophysiology[edit]
HHS is usually precipitated by an infection,[6] myocardial infarction, stroke or another acute illness. A relative insulin deficiency leads to a serum glucose that is usually higher than 33 mmol/L (600 mg/dL), and a resulting serum osmolarity that is greater than 320 mOsm. This leads to excessive urination (more specifically an osmotic diuresis), which, in turn, leads to volume depletion and hemoconcentration that causes a further increase in blood glucose level. Ketosis is absent because the presence of some insulin inhibits hormone-sensitive lipase-mediated fat tissue breakdown.
## Diagnosis[edit]
### Criteria[edit]
According to the American Diabetes Association, diagnostic features include:[7][8]
* Plasma glucose level >30 mmol/L (>600 mg/dL)
* Serum osmolality >320 mOsm/kg
* Profound dehydration, up to an average of 9L (and therefore substantial thirst (polydipsia))
* Serum pH >7.30[8]
* Bicarbonate >15 mEq/L
* Small ketonuria (~+ on dipstick) and absent-to-low ketonemia (<3 mmol/L)
* Some alteration in consciousness
* BUN > 30 mg/dL (increased)[5]
* Creatinine > 1.5 mg/dL (increased)[5]
### Imaging[edit]
Cranial imaging is not used for diagnosis of this condition. However, if MRI is performed, it may show cortical restricted diffusion with unusual characteristics of reversible T2 hypointensity in the subcortical white matter.[9]
### Differential diagnosis[edit]
The major differential diagnosis is diabetic ketoacidosis (DKA). In contrast to DKA, serum glucose levels in HHS are extremely high, usually greater than 40-50 mmol/L (600 mg/dL).[5] Metabolic acidosis is absent or mild.[5] A temporary state of confusion (delirium) is also more common in HHS than DKA. HHS also tends to affect older people more. DKA may have fruity breath, and rapid and deep breathing.[5]
DKA often has serum glucose level greater than 300 mg/dL (HHS is >600 mg/dL).[5] DKA usually occurs in type 1 diabetics whereas HHS is more common in type 2 diabetics.[5] DKA is characterized by a rapid onset, and HHS occurs gradually over a few days.[5] DKA also is characterized by ketosis due to the breakdown of fat for energy.[5]
Both DKA and HHS may show symptoms of dehydration, increased thirst, increased urination, increased hunger, weight loss, nausea, vomiting, abdominal pain, blurred vision, headaches, weakness, and low blood pressure with standing.[5]
## Management[edit]
### Intravenous fluids[edit]
Treatment of HHS begins with reestablishing tissue perfusion using intravenous fluids. People with HHS can be dehydrated by 8 to 12 liters. Attempts to correct this usually take place over 24 hours with initial rates of normal saline often in the range of 1 L/h for the first few hours or until the condition stabilizes.[10]
### Electrolyte replacement[edit]
Potassium replacement is often required as the metabolic problems are corrected.[3] It is generally replaced at a rate 10 mEq per hour as long as there is adequate urinary output.[11]
### Insulin[edit]
Insulin is given to reduce blood glucose concentration; however, as it also causes the movement of potassium into cells, serum potassium levels must be sufficiently high or dangerously low blood potassium levels may result. Once potassium levels have been verified to be greater than 3.3 mEq/l, then an insulin infusion of 0.1 units/kg/hr is started.[12] The goal for resolution is a blood glucose of less than 200 mg/dL.[5]
## References[edit]
1. ^ "Hyperosmolar Hyperglycemic Nonketotic Syndrome (HHNS)". American Diabetes Association. Archived from the original on 2 July 2012. Retrieved 6 July 2012.
2. ^ a b c d e f g h i Stoner, GD (1 May 2005). "Hyperosmolar hyperglycemic state". American Family Physician. 71 (9): 1723–30. PMID 15887451.
3. ^ a b c d e f g h i j k l m Frank, LA; Solomon, A (2 September 2016). "Hyperglycaemic hyperosmolar state". British Journal of Hospital Medicine. 77 (9): C130-3. doi:10.12968/hmed.2016.77.9.C130. PMID 27640667.
4. ^ a b c d e f g h i j k l m Pasquel, FJ; Umpierrez, GE (November 2014). "Hyperosmolar hyperglycemic state: a historic review of the clinical presentation, diagnosis, and treatment". Diabetes Care. 37 (11): 3124–31. doi:10.2337/dc14-0984. PMC 4207202. PMID 25342831.
5. ^ a b c d e f g h i j k l m n o p q r s t u v w x Henry, McMichael (2016). ATI RN Adult Medical Surgical Nursing 10.0. Assessments Technology Institutes. pp. 537–538. ISBN 9781565335653.
6. ^ Stoner, GD (May 2005). "Hyperosmolar hyperglycemic state". American Family Physician. 71 (9): 1723–30. PMID 15887451. Archived from the original on 24 July 2008.
7. ^ Lewis P. Rowland; Timothy A. Pedley (2010). Merritt's Neurology. Lippincott Williams & Wilkins. pp. 369–370. ISBN 978-0-7817-9186-1. Archived from the original on 24 March 2017.
8. ^ a b Magee MF, Bhatt BA (2001). "Management of decompensated diabetes. Diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome". Crit Care Clin. 17 (1): 75–106. doi:10.1016/s0749-0704(05)70153-6. PMID 11219236.
9. ^ Neuroradiology 2007 Apr;49(4):299-305.
10. ^ Tintinalli, Judith E.; Kelen, Gabor D.; Stapczynski, J. Stephan; American College of Emergency Physicians (2004). Emergency Medicine: A Comprehensive Study Guide (6th ed.). McGraw-Hill Prof Med/Tech. p. 1309. ISBN 978-0-07-138875-7. Archived from the original on 24 March 2017.
11. ^ Tintinalli, Kelen & Stapczynski 2004, p. 1320 harvnb error: no target: CITEREFTintinalliKelenStapczynski2004 (help)
12. ^ Tintinalli, Kelen & Stapczynski 2004, p. 1310 harvnb error: no target: CITEREFTintinalliKelenStapczynski2004 (help)
## External links[edit]
Classification
D
* ICD-10: E10-E14
* ICD-9-CM: 250.2
* MeSH: D006944
* DiseasesDB: 29213
External resources
* eMedicine: emerg/264
* v
* t
* e
Diabetes
Types
* Type 1
* Type 2
* LADA
* Gestational diabetes
* Diabetes and pregnancy
* Prediabetes
* Impaired fasting glucose
* Impaired glucose tolerance
* Insulin resistance
* KPD
* MODY
* Neonatal
* Transient
* Permanent
* Type 3c (pancreatogenic)
* Type 3
Blood tests
* Blood sugar level
* Glycosylated hemoglobin
* Glucose tolerance test
* Postprandial glucose test
* Fructosamine
* Glucose test
* C-peptide
* Noninvasive glucose monitor
* Insulin tolerance test
Management
* Diabetic diet
* Anti-diabetic drugs
* Insulin therapy
* intensive
* conventional
* pulsatile
* Cure
* Embryonic stem cells
* Artificial pancreas
* Other
* Gastric bypass surgery
Complications
* Diabetic comas
* Hypoglycemia
* Ketoacidosis
* Hyperosmolar hyperglycemic state
* Diabetic foot
* ulcer
* Neuropathic arthropathy
* Organs in diabetes
* Blood vessels
* Muscle
* Kidney
* Nerves
* Retina
* Heart
* Diabetic skin disease
* Diabetic dermopathy
* Diabetic bulla
* Diabetic cheiroarthropathy
* Neuropathic ulcer
* Hyperglycemia
* Hypoglycemia
Other
* Glossary of diabetes
* History of diabetes
* Notable people with type 1 diabetes
*[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
|
Hyperosmolar hyperglycemic state
|
c0020457
| 7,621 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyperosmolar_hyperglycemic_state
| 2021-01-18T18:28:29 |
{"mesh": ["D006944"], "icd-9": ["250.2"], "icd-10": ["E11.0"], "wikidata": ["Q1828288"]}
|
## Clinical Features
Lezirovitz et al. (2009) reported a large Brazilian family in which 12 members over 5 generations had nonsyndromic bilateral postlingual hearing loss. The hearing loss was initially mild and affected high frequencies in all patients, but became more severe and affected all frequencies with time. Some of the patients had tinnitus. No symptoms of vestibular dysfunction were reported. Age of onset ranged from 18 to 45 years.
Inheritance
The transmission pattern of nonsyndromic deafness in the Brazilian family reported by Lezirovitz et al. (2009) was consistent with autosomal dominant inheritance.
Mapping
By multipoint linkage analysis in a Brazilian family segregating autosomal dominant nonsyndromic deafness, Lezirovitz et al. (2009) found linkage to chromosome 2p21-p12 with a peak lod score of 4.14. Haplotype analysis defined a 30-cM candidate interval between markers D2S2259 and D2S2114. The authors noted that this interval does not overlap with that defined for DFNA43 (608394). Lezirovitz et al. (2009) excluded 9 candidate genes within the DFNA58 locus.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, bilateral progressive post-lingual \- No vestibular dysfunction \- Tinnitus (in some patients) MISCELLANEOUS \- Age of onset from 18 to 45 years \- One Brazilian family with 12 affected individuals reported (last curated February 2014) ▲ 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
|
DEAFNESS, AUTOSOMAL DOMINANT 58
|
c3888210
| 7,622 |
omim
|
https://www.omim.org/entry/615654
| 2019-09-22T15:51:21 |
{"doid": ["0110582"], "omim": ["615654"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "Autosomal dominant non-syndromic neurosensory deafness type DFNA", "Autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "Autosomal dominant non-syndromic sensorineural hearing loss type DFNA"]}
|
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.
Other signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).
The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.
Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.
## Frequency
The exact prevalence of hereditary hyperekplexia is unknown. This condition has been identified in more than 150 individuals worldwide.
## Causes
Mutations in multiple genes have been found to cause hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). These proteins are involved in the response of neurons to a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the nervous system. Gene mutations that cause hereditary hyperekplexia disrupt normal glycine signaling in neurons in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Abnormal signaling in neurons in the brain and neurons that send signals to muscles throughout the body result in abnormal muscle movements, exaggerated startle reaction, and other symptoms characteristic of this disorder.
Most cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. When this protein attaches (binds) to glycine, signaling between cells is stopped. GLRA1 gene mutations lead to the production of a receptor that cannot properly respond to glycine. As a result, glycine is less able to regulate signaling in the spinal cord and brainstem leading to increased cells signaling and the signs and symptoms of hereditary hyperekplexia. Mutations in other genes account for the remaining cases of hereditary hyperekplexia.
### Learn more about the gene associated with Hereditary hyperekplexia
* GLRA1
Additional Information from NCBI Gene:
* GLRB
* SLC6A5
## Inheritance Pattern
Hereditary hyperekplexia has different inheritance patterns.
This condition can be inherited in an autosomal dominant pattern, which means a mutation in one copy of any of the associated genes in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Hereditary hyperekplexia can also be inherited in an autosomal recessive pattern, which means one of the associated genes has mutations in both copies of the gene in each cell. The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the 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
|
Hereditary hyperekplexia
|
c4551954
| 7,623 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia/
| 2021-01-27T08:25:16 |
{"gard": ["3129"], "omim": ["149400", "614619", "614618"], "synonyms": []}
|
A number sign (#) is used with this entry because Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with a hemizygous deletion of chromosome 4p16.3.
Description
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
Clinical Features
The Wolf-Hirschhorn syndrome is characterized by severe growth retardation and mental defect, microcephaly, 'Greek helmet' facies, and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects) (Hirschhorn et al., 1965; Wolf et al., 1965).
In 2 mentally retarded sisters and 2 other unrelated patients (1 male, 1 female), Pitt et al. (1984) reported a seemingly distinctive syndrome: intrauterine growth retardation with subsequent dwarfism, and unusual, characteristic facies. Short upper lip, prominent and slanting eyes, telecanthus, wide mouth, and microcephaly were described. Donnai (1986) and Oorthuys and Bleeker-Wagemakers (1989) described single similar cases. Lizcano-Gil et al. (1995) described a similar case of what was then called the 'Pitt-Rogers-Danks syndrome (PRDS)' or 'Pitt syndrome,' with the additional feature of optic atrophy. The father was 37 years old, prompting Lizcano-Gil et al. (1995) to suggest new dominant mutation with paternal age effect. Clemens et al. (1995, 1996) described a patient thought to have Pitt syndrome in whom fluorescence in situ hybridization analysis using the D4S96 probe specific for the WHS region at 4p16.3 revealed microdeletion in 20 of 20 metaphase cells tested. Donnai (1996) and Lindeman-Kusse et al. (1996) also found microdeletions of 4p16.3 in 4 patients previously diagnosed as having Pitt syndrome. Moreover, 2 sisters originally reported by Pitt et al. (1984) showed 46,XX,-4 +der 4 t(4;8)(p16.3;p23.1) pat. Although Donnai (1996) and Zollino et al. (1996) noted that 4p deletions had not been demonstrated in all cases of Pitt syndrome, the possibility remained that these cases had small deletions within the critical WHS region.
Wittwer et al. (1996) reported a family in which 3 males related as first cousins through carrier sisters were thought to have a novel X-linked mental retardation syndrome. Typical features included prenatal and severe postnatal growth retardation, blindness due to microphthalmia or optic atrophy, moderate to severe hearing loss, dysmorphic features, epilepsy, and severe mental retardation with absence of speech. Urogenital anomalies, malrotation of the gut, and abnormal segmentation of the lungs were also observed. Wieland et al. (2003) restudied this family and concluded that there were also typical skeletal changes. In 1 patient, radiographic examination showed dysplastic lesions in the proximal femurs and the vertebrae. These lesions were progressive and were assumed to be present in another patient because osteochondroma-like changes were mentioned in clinical reports. The patients never achieved walking. They also had white hair in early childhood, which contrasted with the hair color of their relatives. Haplotype analysis and investigation with microsatellite and EST markers suggested a disease locus in a region of Xp22, but no evidence for deletion indicative of a contiguous gene deletion syndrome was found. In a clinical and genetic reevaluation of the 2 living affected sibs in this family, Wieland et al. (2014) concluded that the disorder, previously called Wittwer syndrome, is a variant of Wolf-Hirschhorn syndrome (see CYTOGENETICS).
Kant et al. (1997) studied the patients with Pitt syndrome reported by Lindeman-Kusse et al. (1996) and Oorthuys and Bleeker-Wagemakers (1989) as well as an additional patient. They demonstrated that in each case there was a deletion of 4p16 that overlapped and extended beyond the WHS critical region in each direction. The minimal deleted region in these 4 patients extended from D4S126 to the telomere, with the largest deletion being from D4S394 to the telomere. As a result of their study, Kant et al. (1997) considered it likely that the Pitt and Wolf-Hirschhorn syndromes result from deletion in the same region of 4p16.
Wright et al. (1998) came to a similar conclusion from analysis of a patient with WHS and 2 patients with PRDS. They analyzed the patients at the molecular level, using a series of cosmids across a 4.5-Mb region of 4p16.3. They found that the molecular defects associated with the 2 syndromes show considerable overlap. They concluded that the 2 conditions result from the absence of similar, if not identical, genetic segments and proposed that the clinical differences observed between them are likely the result of allelic variation in the remaining homolog. Battaglia and Carey (1998) also argued that the Pitt-Rogers-Danks syndrome is essentially the same as Wolf-Hirschhorn syndrome, i.e., a 4p deletion syndrome. Wright et al. (1999) further defended the conclusion that WHS and PRDS represent clinical variation of a single disorder. They concluded that WHS and PRDS should no longer be considered separately but instead referred to as WHS (the original name). The prognosis for patients will be determined by the range and severity of symptoms present in the individual cases.
Battaglia et al. (1999) evaluated 15 patients with the 4p- syndrome (12 females, 3 males) in 3 centers. Follow-up spanning 16 years was achieved in 4 of the cases. Thirteen cases were detected by cytogenetics (regular G-banding in 10; high-resolution banding in 3), while the remaining 2 required fluorescence in situ hybridization. Of the 15 patients, 5 (33.3%) had heart lesions; 7 (47%) had orofacial clefts; 13 (87%) had a seizure disorder that tended to disappear with age; and all 15 had severe/profound developmental retardation. One Italian patient had sensorineural deafness and 1 Utah patient had a right split-hand defect. Of note, 2 Utah patients were able to walk with support (at 4 and 12 years of age, respectively), whereas 3 Italian patients and 1 Utah patient were able to walk unassisted (at 4, 5, 5 years 9 months, and 7 years of age, respectively). Two of the 3 Italian patients also achieved sphincter control by day. Eight patients receiving serial electroencephalogram studies showed fairly distinctive abnormalities, usually outlasting seizures. A slow, but constant progress in development was observed in all cases during the follow-up period.
Shannon et al. (2001) reported a study of 159 cases of WHS. Of the 146 cases in which it was possible to collect status, 96 were alive, 37 had died, and 13 were detected on prenatal diagnostic tests. The authors estimated a minimum birth incidence of 1 in 95,896. The crude infant mortality rate was 23 of 132 (17%), and in the first 2 years of life the mortality rate was 28 of 132 (21%). Cases with large de novo deletions (proximal to and including p15.2) were more likely to have died than those with smaller deletions (odds ratio = 5.7; 95% confidence interval 1.7 to 19.9). A comparison of the survival curves for de novo deletions and translocations did not show a statistically significant difference. Shannon et al. (2001) concluded that the mortality rate for WHS was lower than previously reported and that there was a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases.
By telephone survey of 27 adults with WHS ranging in age from 17 to 40 years and their parents, Worthington et al. (2008) found that most patients had cessation of seizures in childhood. A seizure had not occurred in 3 years in 18 (66%) patients, and the mean age of the last seizure in those who were seizure-free was 11.3 years. In addition, many parents commented that seizures were triggered by fever. Worthington et al. (2008) noted that these findings may have relevance in genetic counseling.
Verbrugge et al. (2009) reported 2 unrelated patients with genetically confirmed WHS associated with growth retardation, craniofacial abnormalities, heart defects, and other anomalies. MRI showed tethered spinal cord in both patients. A literature review of 22 reports of neuroimaging findings in WHS indicated that the most common findings were corpus callosum abnormalities (71%), focal white matter signal abnormalities (46%), lateral and third ventricle enlargement (42%), white matter volume reductions (42%), and periventricular cysts (29%). Periventricular cysts were associated with the first year of life, but then appeared to fuse with the frontal horns during late infancy with enlargement of the frontal horns.
Diagnosis
### Prenatal Diagnosis
Tachdjian et al. (1992) described prenatal diagnosis of 5 cases of WHS studied because of severe intrauterine growth retardation detected on routine ultrasound. At autopsy, the fetuses showed typical craniofacial dysmorphia without microcephaly. Major renal hypoplasia was the only constant visceral anomaly. Midline fusion defects were found in all, ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias, and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect, and diaphragmatic hernia. Delayed bone age was present in all.
Population Genetics
The frequency of Wolf-Hirschhorn syndrome is estimated at 1/20,000 to 1/50,000 births, with a female predilection of 2:1 (Battaglia et al., 1999; Maas et al., 2008).
Cytogenetics
The critical zone for development of WHS is located distal to the Huntington disease-linked G8 (D4S10) marker. Although Gusella et al. (1985) found apparent deletion of D4S10 when they tested 7 unrelated patients with WHS, McKeown et al. (1987) reported a family in which 2 children with WHS retained the D4S10 locus on the deleted chromosome. WHS in the 2 sibs was the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother.
Altherr et al. (1991) described a molecular deletion in 4p due to a subtle, inherited translocation between chromosomes 4 and 19, leading to the Wolf-Hirschhorn syndrome phenotype.
Gandelman et al. (1992) described a subtle deletion of 4p in a patient with WHS. Using probes from 4p16.3, they demonstrated a deletion of approximately 2.5 Mb with the breakpoint located approximately 80 kb distal to D4S43.
In 7 cases of WHS, Quarrell et al. (1991) found that there was de novo deletion or rearrangement of 4p; in each case the abnormality had arisen on the paternal chromosome. A paternal age effect was not observed, however.
Anvret et al. (1991) reported molecular studies in 2 patients with WHS which showed that the critical region was within 4p16.3. The deletion was of maternal origin in one patient and of paternal origin in the other.
Goodship et al. (1992) described a 2-year-old girl who presented with developmental delay and subtle dysmorphic features suggesting Wolf-Hirschhorn syndrome: hypertelorism, prominent glabella, short philtrum, and carp-shaped mouth. Although high resolution chromosome analysis was normal in the child and in both parents, molecular analysis indicated that the child had not inherited a maternal allele of probes from 4p16. Prenatal diagnosis in the next pregnancy showed that again the fetus had no maternal allele for probes mapping to 4p16. Fluorescence in situ hybridization (FISH) in the mother showed a submicroscopic translocation between chromosomes 4 and 10.
Estabrooks et al. (1992) reported 2 families with a satellited chromosome 4 short arm. Satellites and stalks normally occur on the short arms of acrocentric chromosomes. Although satellited nonacrocentric chromosomes, presumably resulting through translocation from an acrocentric chromosome, had been reported, this was the first report of involvement of 4p. By Southern blot analysis and FISH, deletion of material mapping approximately 150 kb from 4pter was discovered. Notably, the phenotype was normal with no signs of WHS. Estabrooks et al. (1992) speculated that homology between subterminal repeat sequences on 4p and sequences on the acrocentric short arms may explain the origin of the rearrangement.
Thies et al. (1992) reported 3 apparently de novo deletion cases of WHS. Molecular studies indicated that the deleted segment was of paternal origin in 2 and maternal in the other.
Partington et al. (1997) reported individuals from 3 families in which there was a translocation involving 4p16.3. Nine individuals had clinical features of Pitt syndrome, and a deletion of 4p16.3 was shown by fluorescence in situ hybridization analysis in all 8 patients so studied. Eleven patients had a 'new' syndrome consisting of overgrowth with heavy facial features and mild to moderate mental retardation. A duplication of 4p16.3 was found in the 4 subjects studied. Partington et al. (1997) suggested that the growth abnormalities in these 2 families could be explained by a dosage effect of the FGFR3 gene (134934), with a single dose leading to growth failure and a triple dose to physical overgrowth.
Wright et al. (1997) presented a transcript map of the WHS critical region (WHSCR1), an approximately 165 kb region (about 2 Mb from the telomere, defined by D4S166 and D4S3327) that is gene dense.
Zollino et al. (2003) proposed a new critical region for WHS, a 300- to 600-kb interval on 4p16.3 between D4S3327 and D4S98-D4S168 (WHSCR2; at 1.9 Mb from the telomere), contiguous distally with the WHSCR1 defined by Wright et al. (1997).
Wieland et al. (2014) reevaluated the 2 living males from the family reported by Wittwer et al. (1996) and Wieland et al. (2003) in which 3 males related as first cousins through carrier sisters were thought to have a novel X-linked mental retardation syndrome. Array-based molecular karyotyping revealed a cryptic genomic rearrangement in both patients involving deletion of about 8.4 Mb on 4p16.3p16.1 and duplication of about 3.9 Mb on 17q25.3. FISH confirmed the array results and identified the derivative chromosome der(4)t(4;17) in the patients and the balanced translocation in both female carriers. Wieland et al. (2014) noted that the key features of the patients met the description of WHS, including variable additional manifestations that may be explained in part by the size of the deletion in 4p16.3. They concluded that the disorder in this family, previously called Wittwer syndrome, falls within the phenotypic and genotypic spectrum of WHS.
Molecular Genetics
Zollino et al. (2000) reported the findings in 16 WHS patients. In 11 patients, hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis; in 4 patients, it was detected by molecular probes on apparently normal chromosomes. One patient had normal chromosomes without a detectable molecular deletion within the WHS critical region. In each patient with a deletion, the deletion was demonstrated to be terminal by FISH. The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. The breakpoint was within the 4p16.1 band in 6 patients, apparently coincident with the distal half of this band in 5 patients. The authors used a set of overlapping cosmid clones spanning the 4p16.3 region to establish the extent of each of the 4 submicroscopic deletions. Variations were found in both the size of the deletions and the position of the breakpoints. The precise definition of the cytogenetic defect permitted an analysis of genotype/phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria. Deletion of less than 3.5 Mb resulted in a mild phenotype, in which malformations were absent. The absence of a detectable molecular deletion was still consistent with the diagnosis of WHS. Based on these observations, a 'minimal' WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.
The t(4;8)(p16;p23) translocation, in either the balanced or unbalanced form, has been reported several times (Wieczorek et al., 2000). Giglio et al. (2002) considered that the t(4;8)(p16;p23) translocation may be undetected in routine cytogenetics, and suggested that it may be the most frequent translocation after t(11q;22q), which is the most common reciprocal translocation in humans (Kurahashi et al., 2000; see 609029). Giglio et al. (2002) showed that subjects with der(4) had WHS, whereas subjects with der(8) showed a milder spectrum of dysmorphic features. Two pairs of the many olfactory receptor (OR) gene clusters are located close to each other, on both 4p16 and 8p23. Giglio et al. (2001) demonstrated that an inversion polymorphism of the OR region at 8p23 plays a crucial role in the generation of chromosomal imbalances through unusual meiotic exchanges. Their findings prompted Giglio et al. (2002) to investigate whether OR-related inversion polymorphisms at 4p16 and 8p23 might also be involved in the origin of the t(4;8)(p16;p23) translocation. In 7 subjects (5 of whom represented de novo cases and were of maternal origin), including individuals with unbalanced and balanced translocations, Giglio et al. (2002) demonstrated that breakpoints fell within the 4p and 8p OR gene clusters. FISH experiments with bacterial artificial chromosome (BAC) probes detected heterozygous submicroscopic inversions of both 4p and 8p regions in all 5 mothers of the de novo subjects. Heterozygous inversions on 4p16 and 8p23 were detected in 12.5% and 26% of control subjects, respectively, whereas 2.5% of them were scored as doubly heterozygous.
To define the distinctive WHS phenotype, and to map its specific clinical manifestations, Zollino et al. (2003) studied a total of 8 patients carrying a 4p16.3 microdeletion. The extent of each deletion was established by FISH, with a cosmid contig spanning the entire genomic region from MSX1 (142983) in the distal half of 4p16.1 to the subtelomeric locus D4S3359. The deletions were 1.9-3.5 Mb, and all were terminal. All of the patients presented with a mild phenotype, in which major malformations were usually absent. Head circumference was normal for height in the 2 patients with the smallest deletions (1.9 and 2.2 Mb). The theretofore accepted WHS critical region, a 165-kb interval on 4p16.3 defined by the loci D4S166 and D4S3327 (Wright et al., 1997) was fully preserved in the patient with the 1.9-Mb deletion, in spite of a typical WHS phenotype. The deletion in this patient spanned the chromosome region from D4S3327 to the telomere. Clinically, the distinctive WHS phenotype was defined by the presence of typical facial appearance, mental retardation, growth delay, congenital hypotonia, and seizures. These signs represent the minimal diagnostic criteria for WHS. This basic phenotype was found by Zollino et al. (2003) to map distal to the critical region accepted at that time. Zollino et al. (2003) proposed a new critical region for WHS, which they designated WHSCR2, as a 300- to 600-kb interval on 4p16.3 between D4S3327 and D4S98-D4S168, contiguous distally with the WHSCR defined by Wright et al. (1997). Among the candidate genes already described for WHS, the authors considered LETM1 (604407) likely to be pathogenetically involved in seizures. On the basis of genotype-phenotype correlation analysis, they recommended dividing the WHS phenotype into 2 distinct clinical entities, a 'classical' and a 'mild' form.
Nieminen et al. (2003) examined the dentition and the presence of the MSX1 (HOX7) gene (142983) in 8 Finnish patients with abnormalities of 4p, including 7 with WHS. Five of the WHS patients presented with agenesis of several teeth, suggesting that oligodontia may be a common, although previously not well-documented, feature of WHS. By FISH analysis, the 5 patients with oligodontia lacked 1 copy of MSX1, whereas the other 3 had both copies. One of patients in the latter group was the only one who had cleft palate. Nieminen et al. (2003) concluded that haploinsufficiency for MSX1 serves as a mechanism that causes selective tooth agenesis but by itself is not sufficient to cause oral clefts.
Van Buggenhout et al. (2004) reported 6 patients with small deletions of chromosome 4p covering or flanking the WHS critical region, 5 of whom presented with mild phenotypic features of WHS. Two patients with small interstitial deletions allowed further refinement of the phenotypic map of the region. These analyses pinpointed hemizygosity of the WHSC1 (602952) gene as the cause of the typical WHS facial appearance. The results indicated that the other key features (microcephaly, cleft palate, and mental retardation) probably result from haploinsufficiency of more than 1 gene in the region and are thus true contiguous gene syndrome phenotypes. The breakpoints in the 3 terminal deletions identified in this study coincided with gaps in the human genome draft sequence. Van Buggenhout et al. (2004) demonstrated that 1 of these gaps contains an olfactory receptor gene cluster, suggesting that low copy repeats not only mediate ectopic meiotic recombinations but are also susceptibility sites for terminal deletions.
Rodriguez et al. (2005) reported a 4-year-old girl with a subtelomeric deletion of 4p16.3 who had a typical WHS facial appearance, growth and psychomotor delay, and 2 episodes of febrile seizures. FISH revealed that the 1.9-Mb deletion in this patient was from marker D4S3327 to the telomere, thus supporting the more distal WHS critical region (WHSCR2) proposed by Zollino et al. (2003).
Maas et al. (2008) used high-resolution array comparative genomic hybridization to analyze DNA from 21 WHS patients with pure 4p deletions, including 8 with a cytogenetically visible deletion and 13 with a submicroscopic deletion. Eight patients had previously been reported. Six had classic terminal 4p deletions ranging in size from 1.9 to 30 Mb, but 1 patient with mild clinical features had a 1.4-Mb deletion, the smallest ever reported. Interstitial deletions were identified in 4 patients. By comparison of the phenotypes and deletions, Maas et al. (2008) positioned the genes causing microcephaly and growth retardation between 0.3 and 1.4 Mb in the 4pter region.
Pathogenesis
Kerzendorfer et al. (2012) studied 3 WHS patient cell lines with different deletions of chromosome 4p16. The cell lines showed variable deletion of the SLBP (602422) and/or NELFA (606026) genes, depending on the size of the deletion, as evidenced by protein expression studies. Both of these genes are involved in histone biogenesis. All patient cell lines showed delayed progression from S-phase to M-phase of the cell cycle as well as reduced levels of chromatin-associated histones after DNA replication compared to wildtype cells, consistent with underexpression of the SLBP and NELFA genes. This was associated with increased expression of the non-chromatin-associated histone chaperone H3 (see, e.g., HIST1H3A, 602810). Patient cells also showed defective DNA replication and enhanced sensitivity to camptothecin, which induces double-strand DNA breaks. The findings provided a mechanism for altered cell-cycle progression and impaired DNA replication that may contribute to the clinical features of WHS, such as growth retardation and microcephaly.
Animal Model
In mice, the homologs of genes involved in WHS map to chromosome 5 in a region of conserved synteny with human 4p16.3. Naf et al. (2001) generated and characterized 5 mouse lines bearing radiation-induced deletions spanning the WHSCR syntenic region. Similar to WHS patients, these animals were growth-retarded, susceptible to seizures, and showed midline (palate closure, tail kinks), craniofacial, and ocular anomalies (colobomas, corneal opacities). Other phenotypes included cerebellar hypoplasia and a shortened cerebral cortex. Expression of WHS-like traits was variable and influenced by strain background and deletion size.
Nimura et al. (2009) showed that the H3K36me3-specific histone methyltransferase Whsc1 (602952) functions in transcriptional regulation together with developmental transcription factors whose defects overlap with the human disease WHS. Nimura et al. (2009) found that mouse Whsc1, 1 of 5 putative Set2 homologs, governed H3K36me3 along euchromatin by associating with the cell type-specific transcription factors Sall1 (602218), Sall4 (607343), and Nanog (607937) in embryonic stem cells, and Nkx2-5 (600584) in embryonic hearts, regulating the expression of their target genes. Whsc1-deficient mice showed growth retardation and various WHS-like midline defects, including congenital cardiovascular anomalies. The effects of Whsc1 haploinsufficiency were increased in Nkx2-5 heterozygous mutant hearts, indicating their functional link. Nimura et al. (2009) proposed that WHSC1 functions together with developmental transcription factors to prevent the inappropriate transcription that can lead to various pathophysiologies.
McQuibban et al. (2010) identified the Drosophila gene CG4589 as the ortholog of LETM1 (604407), which they considered a candidate gene for seizures seen in WHS. The authors assayed the effects of downregulating the CG4589 gene, which they renamed DmLETM1, on mitochondrial function in vivo and in vitro. Conditional inactivation of DmLETM1 function in specific tissues resulted in roughening of the adult eye, mitochondrial swelling, and developmental lethality in third-instar larvae, possibly the result of deregulated mitophagy. Neuronal-specific downregulation of DmLETM1 resulted in impairment of locomotor behavior in the fly and reduced synaptic neurotransmitter release. DmLETM1 complemented growth and mitochondrial K+/H+ exchange (KHE) activity in yeast deficient for LETM1. The authors proposed that DmLETM1 functions as a mitochondrial osmoregulator through its mitochondrial K+/H+ exchange activity and may explain part of the pathophysiologic WHS phenotype.
History
De Die-Smulders and Engelen (1996) described a 50-year-old woman with kyphoscoliosis and typical clinical manifestations of Pitt syndrome who was found to have duplication of the segment 11q22-q23. Other family members were not karyotyped.
INHERITANCE \- Isolated cases GROWTH Weight \- Low birth weight Other \- Marked intrauterine growth retardation \- Failure to thrive HEAD & NECK Head \- Microcephaly \- Cranial asymmetry \- Posterior midline scalp defects Face \- Prominent glabella \- Short philtrum \- Micrognathia \- High forehead Ears \- Preauricular tags \- Preauricular pits \- Hearing loss \- Narrow external auditory canals Eyes \- Strabismus \- Hypertelorism \- Epicanthal folds \- Exophthalmos \- Ptosis \- Rieger anomaly \- Nystagmus \- Iris coloboma \- Corectopia \- High-arched eyebrows \- Sparse medial eyebrows Nose \- Wide nasal bridge \- Beaked nose Mouth \- Cleft lip \- Cleft palate \- Downturned corners of mouth \- Short upper lip Teeth \- Hypodontia Neck \- Webbed neck CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect CHEST Ribs Sternum Clavicles & Scapulae \- Sternal ossification center abnormalities \- Fused ribs ABDOMEN Biliary Tract \- Absence of gallbladder Spleen \- Accessory spleen Gastrointestinal \- Malrotation of small bowel \- Gastroesophageal reflux GENITOURINARY External Genitalia (Male) \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Absent uterus SKELETAL \- Delayed bone age Spine \- Sacral dimple \- Sacral sinus \- Scoliosis \- Kyphosis \- Fused vertebrae \- Bifid vertebrae Pelvis \- Hip dislocation \- Absence of pubic rami Limbs \- Thin limbs \- Radioulnar synostosis Hands \- Transverse palmar creases \- Accessory proximal metacarpal ossification centers Feet \- Talipes equinovarus \- Metatarsus adductus \- Polydactyly SKIN, NAILS, & HAIR Skin \- Posterior midline scalp defects \- Sacral dimple \- Transverse palmar creases Nails \- Hyperconvex fingernails Hair \- Low posterior hairline \- High-arched eyebrows \- Sparse medial eyebrows NEUROLOGIC Central Nervous System \- Severe mental retardation \- Hypotonia \- Seizures \- Cavum septum pellucidum \- Absent septum pellucidum \- Interventricular cysts \- Periventricular cysts \- Hydrocephalus \- Enlarged ventricles \- Corpus callosum abnormalities \- White matter hyperintensities on T2 imaging \- Tethered cord (uncommon) ENDOCRINE FEATURES \- Precocious puberty PRENATAL MANIFESTATIONS Movement \- Decreased fetal activity LABORATORY ABNORMALITIES \- Hemizygous deletion at 4p16.3 MISCELLANEOUS \- Sex ratio 2 females to 1 male \- De novo deletions in 87% of patients (preferentially paternally derived) \- 13% of cases secondary to familial translocation (often maternally derived) \- Size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions \- FISH can be used to detect deletions of 4p16.3, the critical region for the phenotype \- Approximately 35% of patients die during the first 2 years of life \- The frequency is estimated at 1/20,000 to 1/50,000 births \- Contiguous gene deletion syndrome MOLECULAR BASIS \- Due to hemizygous deletion of 4p16.3 ▲ Close
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*[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
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WOLF-HIRSCHHORN SYNDROME
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c1956097
| 7,624 |
omim
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https://www.omim.org/entry/194190
| 2019-09-22T16:31:45 |
{"doid": ["0050460"], "mesh": ["D054877"], "omim": ["194190"], "icd-10": ["Q93.3"], "orphanet": ["98788", "280"], "synonyms": ["Alternative titles", "CHROMOSOME 4p16.3 DELETION SYNDROME", "PITT-ROGERS-DANKS SYNDROME", "PITT SYNDROME", "WITTWER SYNDROME"]}
|
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Paratenonitis occurs where a tendon rubs over a bony surface. It is presented with acute edema and hyperaemia of the paratenon with infiltration of inflammatory cells. After few hours or few days, tendon sheath is filled by fibrinous exudate and leads to crepitus. In chronic paratenonitis fibroblasts appear along with perivascular lymphocytic infiltrate. Peritendinous tissues become macroscopically thickened and new connective tissue adhesions occur. In paratenonitis, inflammatory cells are found in the cellular elements of the paratenon and in the vascular ingrowth.[1]
## References[edit]
1. ^ Maffulli, Nicola; Wong, Jason; Almekinders, Louis C. (October 2003). "Types and epidemiology of tendinopathy". Clinics in Sports Medicine. 22 (4): 675–692. ISSN 0278-5919. PMID 14560540.
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
|
Paratenonitis
|
None
| 7,625 |
wikipedia
|
https://en.wikipedia.org/wiki/Paratenonitis
| 2021-01-18T18:38:04 |
{"wikidata": ["Q48968758"]}
|
A number sign (#) is used with this entry because of evidence that congenital cataract-44 (CTRCT44) is caused by homozygous mutation in the LSS gene (600909) on chromosome 21q22.
Clinical Features
Zhao et al. (2015) identified 3 children with severe congenital cataract from a consanguineous 4-generation family of Caucasian descent. They also identified a second consanguineous family with 1 affected child. All affected individuals were homozygous for mutations in the LSS gene.
### Clinical Variability
Chen and Liu (2017) reported a 3-year-old Chinese boy with congenital cataract who was compound heterozygous for mutations in the LSS gene (see MOLECULAR GENETICS) who also exhibited baldness and absence of eyebrows, and small penis. He had no other dysmorphic features, and showed normal muscle tone and intelligence. He underwent cataract surgery at age 3 years and wore glasses to help correct his vision. Laboratory evaluation showed normal cholesterol and 25-hydroxyvitamin D levels. Human chorionic gonadotropin (see 118860) stimulation results were consistent with normal testicular function; thus, treatment for micropenis was deferred until puberty.
Molecular Genetics
By whole-exome sequencing in 3 children with severe congenital cataract, Zhao et al. (2015) identified homozygosity for a missense mutation in the LSS gene (G588S; 600909.0001). The parents and an unaffected sib were heterozygous. Zhao et al. (2015) subsequently screened 154 families with congenital cataracts for LSS mutations, and identified another homozygous mutation, W581R (600909.0002), in a second consanguineous family. The 2 mutations were not found in 11,000 control chromosomes. Both mutations alter highly conserved amino acids residues. In transfection experiments, neither the G588S nor the W581R mutant protein demonstrated any cyclase activity.
By whole-exome sequencing in a 3-year-old Chinese boy with congenital cataract and hypotrichosis, Chen and Liu (2017) identified compound heterozygosity for missense mutations in the LSS gene, I342S (600909.0003) and W629C (600909.0004).
Clinical Management
Zhao et al. (2015) found that lanosterol, but not cholesterol, successfully redissolved aggregated crystalline proteins from amyloid-like fibrils in a concentration-dependent manner as indicated by the disappearance of fibrillar structures. To assess the effect of lanosterol on cataract reduction in lens tissues, the authors isolated naturally occurring cataractous lenses from rabbits. There was a strong trend of reduction in cataract severity demonstrated by an increase in lens clarity (p less than 0.003, Wilcoxon test). In dogs, lanosterol treatment in vivo significantly reduced cataract severity and increased lens clarity (p less than 0.009, Wilcoxon test).
Animal Model
Mori et al. (2006) found that mutation in the Lss gene caused cholesterol deficiency associated-cataracts in Shumiya cataract rats (SCRs), recapitulating the human phenotype.
Genotype/Phenotype Correlations
Romano et al. (2018) identified homozygous and compound heterozygous mutations towards the N-terminal domain of the LSS gene in patients with hypotrichosis simplex (HYT14; 618275). They noted that the homozygous mutations in LSS identified by Zhao et al. (2015) in patients with cataract were located in the C-terminal domain, and that the Chinese boy reported by Chen and Liu (2017) with an intermediate phenotype, showing both congenital cataract and hypotrichosis, was compound heterozygous for mutations in both domains of LSS. Romano et al. (2018) suggested a genotype/phenotype correlation, with mutations occurring toward the N terminus giving rise to hair loss, and mutations toward the C terminus being associated with ocular abnormalities.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Cataract, congenital, severe \- Vision loss MISCELLANEOUS \- A patient with congenital cataracts and hypotrichosis ( 618275 ) has been reported due to compound heterozygous mutations in LSS \- Based on a report of 4 patients from 2 consanguineous families with homozygous LSS mutations (last curated December 2018) MOLECULAR BASIS \- Caused by mutation in the lanosterol synthase gene (LSS, 600909.0001 ) ▲ 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
|
CATARACT 44
|
c0266539
| 7,626 |
omim
|
https://www.omim.org/entry/616509
| 2019-09-22T15:48:39 |
{"doid": ["0110267"], "omim": ["616509"], "icd-10": ["Q12.0"], "orphanet": ["91492", "98994"], "synonyms": ["Alternative titles", "CATARACT 44 AND HYPOTRICHOSIS"]}
|
A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.
*[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
|
Dermoid or epidermoid cyst of the central nervous system
|
None
| 7,627 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=530033
| 2021-01-23T18:44:35 |
{"synonyms": ["Dermoid or epidermoid cyst of the CNS"]}
|
A number sign (#) is used with this entry because of identification of at least 1 polymorphism that renders HIV-infected men susceptible to Kaposi sarcoma; see 147620.0001.
See 614836 for information on a locus on chromosome 3p22 that is associated with susceptibility to infection by human herpesvirus-8, the etiologic agent of Kaposi sarcoma.
Description
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000).
Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
Clinical Features
KS usually presents as red-purple nodules, plaques, and macules. Initial lesions are usually on the limbs and are often associated with edema due to tumor infiltration of superficial lymphatics. Zeligman (1960) observed the disorder in father and son. Although a characteristic ethnic occurrence (Italian and Jewish) has been noted, this was perhaps only the second instance of familial incidence.
Finlay and Marks (1979) reported 70-year-old mother and 44-year-old son. They reviewed other familial occurrence and commented on the possibility that close and prolonged contact in families may be a factor. They also suggested that an insect vector may be involved in the geographic concentration.
DiGiovanna and Safai (1981) reviewed 90 cases seen at Memorial Sloan-Kettering Cancer Center between 1954 and 1975 and found only 1 instance of documented familial occurrence. Their review of the literature revealed only 7 examples of 2 or more affected family members. Of 77 cases in which the information was available, 54 were immigrants from high-incidence areas. Of 87 cases with the relevant information, 52 were Jewish and 17 Italian.
Durack (1981) pointed to Kaposi sarcoma as an 'opportunistic tumor' because it develops in homosexual men who also get opportunistic infections such as Pneumocystis carinii and show evidence of an acquired cellular immunodeficiency (Gottlieb et al., 1981).
Masur et al. (1981) found among 11 cases of Pneumocystis pneumonia in men who were homosexual and/or drug abusers, 1 case of Kaposi sarcoma and 1 of angioimmunoblastic lymphadenopathy.
Kaposi sarcoma is the most common neoplasm affecting patients with AIDS, and HIV infection is an important risk factor in its development: the KS risk of AIDS patients is 20,000-fold over that of the general population. Kedes et al. (1996) noted that strong epidemiologic data indicate that HIV is not the sole determinant of KS risk. The tumor also occurs in selected HIV-negative groups, including immunosuppressed transplant recipients and some African and Mediterranean populations. Even among HIV-infected individuals, the risk for KS varies widely with high rates observed in HIV-positive homosexual men and very low rates among HIV-infected hemophiliacs and children. These and other data suggested that a second, sexually transmitted cofactor may be involved in KS etiology or pathogenesis, an inference that was further sustained by the occasional instance of KS in HIV-negative homosexual men.
Chang et al. (1994) had identified genomic sequences of a novel herpesvirus, termed KSHV or HHV-8, in Kaposi sarcoma tissues by PCR-based methods. These sequences were found in virtually all AIDS-KS specimens and in a majority of HIV-negative KS cases as well. In addition, HHV-8 sequences were found both in Castleman disease, a rare lymphoproliferative disorder often associated with KS, and in HIV-positive cases of a rare form of diffuse body cavity-based lymphomas.
Using an immunofluorescence assay, Kedes et al. (1996) examined serum samples from 913 patients for the presence of antibodies specific for infection by HHV-8. The distribution of HHV-8 seropositivity conformed to that expected for a sexually transmitted pathogen and tracked closely with the risk for KS development.
Using a sensitive indirect immunofluorescence assay, Gao et al. (1996) found KSHV-related antibodies in 71 to 88% of serum samples from U.S., Italian, and Ugandan AIDS patients with Kaposi sarcoma, as well as in all serum samples examined from HIV-seronegative Kaposi sarcoma patients. Although none of the U.S. blood donors examined were KSHV seropositive, intermediate and high seroprevalence rates were found in Italian and Ugandan control populations.
Cool et al. (2003) suggested an association between KSHV expression and primary pulmonary hypertension (178600).
### Multicentric Castleman Disease
Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type MCD. MCD is a rare condition characterized by abnormal populations of polyclonal plasmablasts in multiple lymph nodes with a propensity toward development of lymphoma.
Cesarman (2003) pointed out that KSHV is present in approximately half the cases of multicentric Castleman disease in immunocompetent patients and almost all of those infected with HIV. Castleman disease has been linked to an excess production of interleukin-6 (IL6; 147620). KSHV encodes its own viral homolog of this cytokine, as well as both latent and lytic genes, which can potently induce the cellular expression of interleukin-6.
Pathogenesis
To determine whether Kaposi sarcoma is a monoclonal disorder, Rabkin et al. (1997) assessed the methylation pattern of the androgen-receptor gene (AR; 313700) in multiple lesions from women with AIDS. In polyclonal tissues, about half the copies of each AR allele were methylated, whereas in cells derived from a single clone all copies of only 1 allele were methylated. To minimize contamination by normal DNA, Rabkin et al. (1997) used microdissection to isolate areas composed primarily of spindle cells, the putative tumor cells of Kaposi sarcoma. In 8 patients with a total of 32 tumors, they found that 28 tumors had highly unbalanced methylation patterns, i.e., predominant methylation of 1 AR allele. In all the tumors that had unbalanced methylation from a given patient, the same allele predominated. These data indicated that Kaposi sarcoma is a disseminated monoclonal cancer and that the changes that permit the clonal outgrowth of spindle cells occur before the disease spreads.
Chow et al. (2001) noted that KSHV encodes a functional homolog of IL6 (termed vIL6; 25% sequence homology) that is expressed in KSHV-infected cells and is able to induce angiogenesis and hematopoiesis in IL6-dependent cell lines. In contrast to IL6, which binds to gp130 (IL6ST; 600694) only after it forms a complex with IL6RA (IL6R; 147880), vIL6 directly activates gp130.
Hong et al. (2004) showed that infection of differentiated blood vascular endothelial cells (BECs) with KSHV led to their lymphatic reprogramming. Induction of approximately 70% of the main lymphatic lineage-specific genes, including PROX1 (601546), a master regulator of lymphatic development, was observed, as well as downregulation of blood vascular genes. Wang et al. (2004) found that in vitro infection of both lymphatic endothelial cells (LECs) and BECs with KSHV induced transcriptional reprogramming. The lymphangiogenic molecules VEGFD (300091) and angiopoietin-2 (ANGPT2; 601922) were found to be elevated in the plasma of individuals with AIDS and Kaposi sarcoma.
Using clarified saliva and biotinylated HHV-8, Grange et al. (2005) detected binding to the 78-kD lactoferrin (LF, or LTF; 150210) protein. Binding did not require glycosylation. Approximately 8% of HHV-8-uninfected individuals tested expressed a form of LF that was not recognized by HHV-8. Endoprotease cleavage of native LF generated a nonglycosylated 8-kD peptide corresponding to amino acids 606 to 679 in the C-terminal region of LF that bound HHV-8. Grange et al. (2005) concluded that LF in saliva is a ligand for HHV-8 and possibly a carrier of viral particles.
Grange et al. (2012) showed that LF or the 8-kD LF C-terminal peptide enhanced KSHV infection of a human epithelial cell line and primary human foreskin fibroblasts.
Suthaus et al. (2012) found that mice constitutively expressing vIL6 had Il6 levels comparable to those observed in HHV-8-infected patients and contained elevated amounts of phosphorylated Stat3 (102582) in spleen and lymph nodes, where vIL6 was produced. These mice also developed key features of MCD, such as splenomegaly, multifocal lymphadenopathy, hypergammaglobulinemia, and plasmacytosis. Upon transfer of the vIL6 gene to Il6-deficient mice, the MCD-like phenotype was not observed, suggesting that endogenous IL6 in the mouse is a critical cofactor in the disease. Suthaus et al. (2012) proposed that human IL6 plays an important role in the pathogenesis of HHV-8-associated MCD.
Population Genetics
In studies in Iceland and the Faroe Islands, Hjalgrim et al. (1998) found an unusually high incidence of non-AIDS-related Kaposi sarcoma. The basis for this high frequency was not evident.
Guttman-Yassky et al. (2003) investigated trends in the incidence of classic Kaposi sarcoma in Israeli Jews between 1960 and 1998. World standardized incidence rates of 20.7 and 7.5 per million among men and women, respectively, were calculated. The highest incidence rates were displayed by men who originated from Africa and by Asian-born women.
Molecular Genetics
Foster et al. (2000) found a strong association between the IL6 gene promoter polymorphism (-174G-C; 147620.0001) and susceptibility to Kaposi sarcoma in HIV-infected men. Homozygotes for IL6 allele G, associated with increased IL6 production, were overrepresented among patients with Kaposi sarcoma, whereas allele C homozygotes were underrepresented.
Oncology \- Kaposi sarcoma Inheritance \- Autosomal dominant Misc \- Rarely familial Skin \- Red-purple nodules, plaques, and macules \- Limb edema ▲ 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
|
KAPOSI SARCOMA, SUSCEPTIBILITY TO
|
c0017531
| 7,628 |
omim
|
https://www.omim.org/entry/148000
| 2019-09-22T16:39:20 |
{"mesh": ["D005871"], "omim": ["148000"], "orphanet": ["160", "33276", "93686"], "synonyms": ["Alternative titles", "MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO"]}
|
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
*[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
|
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
|
None
| 7,629 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2703
| 2021-01-23T17:36:24 |
{"gard": ["4014"], "synonyms": ["Nova syndrome"]}
|
Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Osteogenesis imperfecta type III
|
c0268362
| 7,630 |
gard
|
https://rarediseases.info.nih.gov/diseases/8695/osteogenesis-imperfecta-type-iii
| 2021-01-18T17:58:33 |
{"mesh": ["C536044"], "omim": ["259420"], "umls": ["C0268362"], "orphanet": ["216812"], "synonyms": ["OI type 3", "Osteogenesis imperfecta, progressively deforming with normal sclerae", "OI type III", "Progressive deforming osteogenesis imperfecta", "Severe osteogenesis imperfecta", "Progressively deforming OI", "Osteogenesis imperfecta type 3"]}
|
"Verruca" redirects here. For other uses, see Veruca.
Plantar wart
Other namesVerruca myrmecia, verruca plantaris[1]
Close up image of a large plantar wart
SpecialtyDermatology, Podiatry
SymptomsSkin colored lesion, may be painful[2]
ComplicationsTrouble walking[2]
DurationTwo years[2]
CausesHuman papillomavirus (HPV)[2]
Risk factorsCommunal showers, prior warts, poor immune function[2][3]
Diagnostic methodBased on symptoms[3]
Differential diagnosisCallus, molluscum contagiosum, squamous cell carcinoma[2]
TreatmentSalicylic acid, Fluorouracil cream,[4] cryotherapy, surgical removal[2]
FrequencyCommon[5]
A plantar wart, or verruca,[6] is a wart occurring on the bottom of the foot or toes.[5] Their color is typically similar to that of the skin.[2] Small black dots often occur on the surface.[5] One or more may occur in an area.[2] They may result in pain with pressure such that walking is difficult.[2]
They are caused by the human papillomavirus (HPV).[2] A break in the skin is required for infection to occur.[2] Risk factors include use of communal showers, having had prior warts, and poor immune function.[2][3] Diagnosis is typically based on symptoms.[3]
Treatment is only needed if it is causing symptoms.[3] This may include salicylic acid, cryotherapy, or surgical removal.[2] The skin over-top the lesion should generally be removed before treatment.[2] In about a third to two thirds of cases they go away without specific treatment, however this may take a couple of years.[2] Plantar warts are common.[5] Children and young adults are most often affected.[3]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 5.1 Medications
* 5.2 Surgery
* 6 References
* 7 External links
## Signs and symptoms[edit]
Their color is typically similar to that of the skin.[2] Small black dots may occur on the surface.[5] One or more may occur in an area.[2] They may result in pain with pressure such that walking may be difficult.[2]
* A plantar wart. Striae (fingerprints) go around the lesion.
* Mosaic warts cluster
* Young plantar warts
## Cause[edit]
Plantar warts are benign epithelial tumors generally caused by infection by human papillomavirus types 1, 2, 4, 60, or 63,[7] but have also been caused by types 57,[8] 65,[9] 66,[10] and 156.[11] These types are classified as clinical (visible symptoms). The virus attacks compromised skin through direct contact, possibly entering through tiny cuts and abrasions in the stratum corneum (outermost layer of skin). After infection, warts may not become visible for several weeks or months. Because of pressure on the sole of the foot or finger, the wart is pushed inward and a layer of hard skin may form over the wart. A plantar wart can be painful if left untreated.[12][13]
Warts may spread through autoinoculation, by infecting nearby skin or by infected walking surfaces. They may fuse or develop into clusters called mosaic warts.[7]
## Diagnosis[edit]
A plantar wart is a small lesion that appears on the surface of the skin and typically resembles a cauliflower, with tiny black petechiae (tiny hemorrhages under the skin) in the center. Pinpoint bleeding may occur when these are scratched. Plantar warts occur on the soles of feet and toes. They may be painful when standing or walking.
Plantar warts are often similar to calluses or corns, but can be differentiated by close observation of skin striations. Feet are covered in friction ridges, which are akin to fingerprints of the feet. Friction ridges are disrupted by plantar warts; if the lesion is not a plantar wart, the striations continue across the top layer of the skin. Plantar warts tend to be painful on application of pressure from either side of the lesion rather than direct pressure, unlike calluses (which tend to be painful on direct pressure instead).
## Prevention[edit]
HPV is spread by direct and indirect contact from an infected host. Avoiding direct contact with infected surfaces such as communal changing rooms and shower floors and benches, avoiding sharing of shoes and socks and avoiding contact with warts on other parts of the body and on the bodies of others may help reduce the spread of infection. Infection is less common among adults than children.[13]
As all warts are contagious, precautions should be taken to avoid spreading them. Recommendations include:
* cover them with an adhesive bandage while swimming
* wear flip-flops when using communal showers
* do not share towels.[14]
Plantar warts are not prevented by inoculation with HPV vaccines because the warts are caused by different strains of HPV. Gardasil protects against strains 6, 11, 16, and 18, and Cervarix protects against 16 and 18, whereas plantar warts are caused by strains 1, 2, 4, and 63.[dubious – discuss]
## Treatment[edit]
Further information: Wart § Treatment
First-line therapy Over-the-counter salicylic acid
Second-line therapy Cryotherapy, Fluorouracil, intralesional immunotherapy, laser therapy
Third-line therapy Bleomycin, surgical excision
Cryotherapy being applied to a plantar wart with a cotton swab
A number of treatments have been found to be effective.[15] A 2012 review of different treatments for skin warts in otherwise healthy people concluded modest benefit from salicylic acid and cryotherapy appears similar to salicylic acid.[16]
### Medications[edit]
Salicylic acid — the treatment of warts by keratolysis involves the peeling away of dead surface skin cells with keratolytic chemicals such as salicylic acid or trichloroacetic acid. These are available in over-the-counter products or, in higher concentrations, may need to be prescribed by a physician. A 12-week daily treatment with salicylic acid has been shown to lead to a complete clearance of warts in 10–15% of the cases.[17]
Formic acid — Topical formic acid is a common treatment for plantar warts, which works by being applied over a period of time causing the body to reject the wart.[18]
Immunotherapy — Intralesional injection of antigens (mumps, candida or trichophytin antigens USP) is a new[when?] wart treatment which may trigger a host immune response to the wart virus, resulting in wart resolution. It is now recommended as a second-line therapy.[19]
### Surgery[edit]
A ~7 mm plantar wart surgically removed from the sole of a person's foot after other treatments failed
Liquid nitrogen — This, and similar cryosurgery methods, is a common surgical treatment which acts by freezing the external cell structure of the warts, destroying the live tissue.
Electrodesiccation and surgical excision, which may produce scarring.
Laser surgery — This is generally a last resort treatment, as it is expensive and painful, but may be necessary for large, hard-to-cure warts.[20]
Cauterization — This may be effective as a prolonged treatment. As a short-term treatment, cauterization of the base with anesthetic can be effective, but this method risks scarring or keloids. Subsequent surgical removal if necessary, also risks keloids and/or recurrence in the operative scar.[21]
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 405. ISBN 978-0-7216-2921-6.
2. ^ a b c d e f g h i j k l m n o p q r s Vlahovic, TC; Khan, MT (July 2016). "The Human Papillomavirus and Its Role in Plantar Warts: A Comprehensive Review of Diagnosis and Management". Clinics in Podiatric Medicine and Surgery. 33 (3): 337–53. doi:10.1016/j.cpm.2016.02.003. PMID 27215155.
3. ^ a b c d e f Ferri, Fred F. (2017). Ferri's Clinical Advisor 2018 E-Book: 5 Books in 1. Elsevier Health Sciences. p. 1375. ISBN 9780323529570.
4. ^ https://pubmed.ncbi.nlm.nih.gov/16703777/
5. ^ a b c d e "Plantar Warts". AOFAS. Archived from the original on 11 November 2017. Retrieved 11 November 2017.
6. ^ "Warts and verrucas". nhs.uk. NHS. 18 October 2017. Retrieved 8 September 2020.
7. ^ a b Human Papillomavirus at eMedicine
8. ^ Egawa K, Kitasato H, Honda Y, Kawai S, Mizushima Y, Ono T (1998). "Human papillomavirus 57 identified in a plantar epidermoid cyst". Br. J. Dermatol. 138 (3): 510–4. doi:10.1046/j.1365-2133.1998.02135.x. PMID 9580810. S2CID 19998825.
9. ^ "Human Papillomaviruses Compendium" (PDF). Los Alamos National Laboratory. Retrieved 2013-02-05.
10. ^ Davis MD, Gostout BS, McGovern RM, Persing DH, Schut RL, Pittelkow MR (2000). "Large plantar wart caused by human papillomavirus-66 and resolution by topical cidofovir therapy". J. Am. Acad. Dermatol. 43 (2 Pt 2): 340–3. doi:10.1067/mjd.2000.100534. PMID 10901717.
11. ^ Chouhy D, Bolatti EM, Piccirilli G, Sánchez A, Fernandez Bussy R, Giri AA (2013). "Identification of human papillomavirus type 156, the prototype of a new human gammapapillomavirus species, by a generic and highly sensitive PCR strategy for long DNA fragments". J. Gen. Virol. 94 (Pt 3): 524–33. doi:10.1099/vir.0.048157-0. PMID 23136368.
12. ^ Warts, Plantar at eMedicine
13. ^ a b "Understanding Plantar Warts". Health Plan of New York. Retrieved 2007-12-07.
14. ^ "Clinical Knowledge Summaries: Previous version – Warts (including verrucas)" (PDF). National Health Service. January 2007. p. 2. Archived from the original (PDF) on 2011-06-01. Retrieved 2010-12-05.
15. ^ Bacelieri R, Johnson SM (2005). "Cutaneous warts: an evidence-based approach to therapy". Am Fam Physician. 72 (4): 647–52. PMID 16127954.
16. ^ Kwok, Chun Shing; Gibbs, Sam; Bennett, Cathy; Holland, Richard; Abbott, Rachel (12 September 2012). "Topical treatments for cutaneous warts". The Cochrane Database of Systematic Reviews (9): CD001781. doi:10.1002/14651858.CD001781.pub3. ISSN 1469-493X. PMID 22972052.
17. ^ Cockayne S, Curran M, Denby G, Hashmi F, Hewitt C, Hicks K, Jayakody S, Kang'ombe A, McIntosh C, McLarnon N, Stamuli E, Thomas K, Turner G, Torgerson D, Watt I (2011). "EVerT: Cryotherapy versus salicylic acid for the treatment of verrucae--a randomised controlled trial". Health Technology Assessment (Winchester, England). 15 (32): 1–170. doi:10.3310/hta15320. PMID 21899812.
18. ^ Bhat, RM; Vidya, K; Kamath, G (June 2001). "Topical formic acid puncture technique for the treatment of common warts". International Journal of Dermatology. 40 (6): 415–9. doi:10.1046/j.1365-4362.2001.01242.x. PMID 11589750.
19. ^ Bacelieri R, Johnson SM (2005). "Cutaneous warts: An evidence-based approach to therapy". American Family Physician. 72 (4): 647–652. PMID 16127954.
20. ^ "Laser Surgery for Warts", webmd.com
21. ^ Kunnamo, Ilkka (2005). Evidence-based Medicine Guidelines. John Wiley and Sons. p. 422. ISBN 978-0-470-01184-3.
## External links[edit]
Classification
D
* ICD-10: B07
* ICD-9-CM: 078.12
* Plantar warts at the Mayo Clinic website
* Warts at The Merck Manual
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
* v
* t
* e
Human papillomavirus
Related
diseases
Cancers
* Cervical cancer
* cancers
* Anal
* Vaginal
* Vulvar
* Penile
* Head and neck cancer (HPV-positive oropharyngeal cancer)
Warts
* * genital
* plantar
* flat
* Laryngeal papillomatosis
* Epidermodysplasia verruciformis
* Focal epithelial hyperplasia
* Papilloma
Others
Acrochordon (skin tags)
Vaccine
* HPV vaccines
* Cervarix
* Gardasil
Screening
* Pap test:
* stain
* Bethesda system
* Cytopathology
* Cytotechnology
* Experimental techniques:
* Speculoscopy
* Cervicography
Colposcopy
Biopsy histology
* Cervical intraepithelial neoplasia (CIN)
* Koilocyte
* Vaginal intraepithelial neoplasia (VAIN)
* Vulvar intraepithelial neoplasia (VIN)
Treatment
* Cervical conization
* Loop electrical excision procedure (LEEP)
History
* Georgios Papanikolaou
* Harald zur Hausen
*[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
|
Plantar wart
|
c0042548
| 7,631 |
wikipedia
|
https://en.wikipedia.org/wiki/Plantar_wart
| 2021-01-18T19:08:09 |
{"umls": ["C0042548"], "wikidata": ["Q2251669"]}
|
A number sign (#) is used with this entry because Scheie syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-L-iduronidase (IDUA; 252800) on chromosome 4p16.
Description
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.
Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).
Nomenclature
McKusick et al. (1972) suggested that the Hurler syndrome might be called MPS IH and the Scheie syndrome MPS IS.
Clinical Features
Stiff joints, clouding of the cornea most dense peripherally, survival to a late age with little if any impairment of intellect, and aortic regurgitation are features of the Scheie syndrome, which was earlier thought (McKusick et al., 1965) to be a separate entity designated MPS V.
The manifestations of Scheie syndrome are so mild that the diagnosis is often not considered until adulthood. The diagnosis is often made between 10 and 20 years of age with onset of symptoms commonly occurring after the age of 5 years (Neufeld and Muenzer, 2001).
The second case of Emerit et al. (1966) was probably Scheie syndrome. The parents were second cousins. The facies and hands were characteristic and aortic regurgitation with tricuspid atresia and situs inversus were present. The sisters, aged 47 and 55, reported by Koskenoja and Suvanto (1959) probably had this condition. The case of Poulet (1968) with 2 affected cousins was probably Scheie syndrome.
Fischer et al. (1999) described combined aortic and mitral stenosis in a patient with the clinical diagnosis of Ullrich-Scheie syndrome. The patient was short (161 cm). He was of normal intelligence with a high school degree. At age 23 years, recurrent syncope led to the diagnosis of severe aortic valve stenosis which was successfully treated by replacement of the calcified valve with a St. Jude prosthesis. Clouding of the cornea was found. In his thirties he developed weakness in the legs which was found to be due to compression of his spinal cord by severe thickening of the epidermal tissues from segments C1 through T1. Spinal cord decompression was required. At the age of 35, a stenotic mitral valve was replaced, again by a St. Jude prosthesis.
### Head and Neck
The face is relatively normal without the coarsening seen in the other mucopolysaccharidoses. The face is broad with mandibular prognathism and full cheeks. The nasal bridge is flat and the nose and nares are broad. The neck is short (Whitley, 1993).
Corneal clouding is common in adults with Scheie syndrome and is often the presenting complaint (Whitley, 1993). The corneal clouding is progressive, leading to significant visual impairment. Other ophthalmologic problems include glaucoma (Quigley et al., 1975) and retinal degeneration (Neufeld and Muenzer, 2001).
### Cardiovascular Features
Aortic and mitral valvular disease is a feature in Scheie syndrome (Whitley, 1993). Butman et al. (1989) reported the first successful combined aortic and mitral valve replacement in an adult female patient with severe aortic and mitral stenosis due to Scheie syndrome.
Gross et al. (1988) described the echocardiographic abnormalities in 2 sisters with Scheie syndrome. The 19-year-old sister had clinical evidence of mild aortic stenosis. Her echocardiogram revealed a markedly thickened left coronary cusp of the aortic valve and abnormal mitral valve. Cardiac catheterization confirmed aortic stenosis and regurgitation with well-preserved left ventricular function. The younger, 14-year-old sister had similar echocardiogram findings with the exception that the noncoronary aortic cusp was thickened and immobile.
### Respiratory Features
Perks et al. (1980) reported 2 brothers with Scheie syndrome and sleep apnea. The 18-year-old brother presented with a 2-year history of daytime sleepiness and noisy breathing during sleep. Sleep study revealed 320 apneic episodes, 7% obstructive and 3 mixed. The apnea was associated with EEG changes suggestive of cerebral hypoxia. He underwent tracheostomy, which produced symptomatic improvement. The 25-year-old brother was less severely affected and had a total of 58 apneic episodes: 24% obstructive, 33% mixed, and 43% central.
### Musculoskeletal System
Dysostosis multiplex can be present but is usually mild. Joint involvement is marked in the hand with a claw-hand deformity. Patients also have genu valgum, stiff, painful feet, and pes cavus (Neufeld and Muenzer, 2001).
Carpal tunnel syndrome, a common complication in the mucopolysaccharidoses, probably results from a combination of excessive lysosomal storage in the connective tissue of the flexor retinaculum and a deformity secondary to the underlying skeletal dysplasia. Wraith and Alani (1990) performed nerve conduction studies on 18 patients with various forms of mucopolysaccharidoses and mucolipidosis III. All 5 patients with MPS IS were found to have carpal tunnel syndrome.
Lumbar-sacral spondylolisthesis may be present and may be associated with spinal cord compression (Wraith, 1995).
### Nervous System
Intelligence is normal (Neufeld and Muenzer, 2001). Pachymeningitis cervicalis (compression of the cervical cord secondary to glycosaminoglycan in the dura) occurs in MPS IS, although less commonly than in MPS IH/S.
Biochemical Features
Wiesmann and Neufeld (1970) found no cross-correction of Scheie and Hurler fibroblasts with those from Sanfilippo (see 252900) and Hunter (309900) patients. Both disorders showed deficiencies of alpha-L-iduronidase.
Fujibayashi et al. (1984) found that residual alpha-L-iduronidase activity in Hurler fibroblasts is heat-stable whereas that in Scheie fibroblasts is heat-labile.
Schuchman and Desnick (1988) reported the presence of cross-reactive immunologic material (CRIM) in individuals from each of the 3 MPS I subtypes. Furthermore, they identified effector compounds that enhanced the residual activities in subtype extracts into the heterozygote range. The polyclonal antibody with which this work was done, however, is under suspicion because of the findings of Scott et al. (1990) that it gave a fallacious result when used for the mapping of the IDUA gene in somatic cell hybrids.
Inheritance
Autosomal recessive inheritance of MPS IS was suggested by early reports of affected sibs born to normal parents (McKusick et al., 1965). McKusick's prototypic case of Scheie syndrome was subsequently shown to be a genetic compound of an allele that in the homozygote causes Hurler syndrome (252800.0001) and another allele (252800.0004) with a splicing mutation associated with residual enzyme activity.
Population Genetics
Lowry and Renwick (1971) reported the frequency of Scheie syndrome to be 1 in 500,000 births.
Yamagishi et al. (1996) defined the IDUA mutations in 19 Japanese MPS I patients, including 2 pairs of sibs, with various clinical phenotypes; Hurler syndrome, 6 cases; Hurler/Scheie syndrome, 7 cases; Scheie syndrome, 6 cases. Two common mutations accounted for 42% of the 38 alleles in these patients. One was a novel 5-bp insertion between the T at nt704 and the C at nucleotide 705 (704ins5; 252800.0014), which was seen only in the Japanese population. The other was a missense mutation, R89Q (252800.0015), which is seen also in Caucasians, although uncommonly. No Japanese patient was found to carry the W402X (252800.0001) or Q70X (252800.0002) alleles, the 2 most common MPS I mutations in Caucasians. Homozygosity for the 704ins5 mutation was associated with a severe phenotype; homozygosity for the R89Q mutation was associated with a mild phenotype. Compound heterozygosity for these 2 mutations produced an intermediate phenotype. Haplotype analysis using polymorphisms linked to IDUA locus demonstrated that each of these 2 common mutations occurred on a different specific haplotype, suggesting that individuals with each of these common mutations derived from a common founder. The mild-intermediate-severe phenotypic relationships of the 2 common Japanese mutations fulfill the prediction of McKusick et al. (1972).
Molecular Genetics
Bunge et al. (1995) identified 13 novel and 7 previously reported mutations of the IDUA gene, covering 88% of mutant alleles and 86% of genotypes, in a total of 29 patients with MPS I of differing clinical severity.
In a mutation analysis of 85 mucopolysaccharidosis type I families, including 7 families with Scheie syndrome, Beesley et al. (2001) identified 165 of the 170 mutant alleles. Despite the high frequency of W402X (252800.0001) and Q70X (252800.0002), the identification of many novel mutations unique to individual families further highlighted the genetic heterogeneity of MPS I.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Broad face \- Full cheeks \- Mandibular prognathism Eyes \- Corneal clouding, progressive \- Glaucoma (in some patients) \- Retinal degeneration (in some patients) Nose \- Flat nasal bridge \- Broad nose \- Broad nares Neck \- Short neck CARDIOVASCULAR Heart \- Aortic stenosis \- Aortic regurgitation \- Abnormal mitral valve RESPIRATORY \- Obstructive sleep apnea Airways \- Obstructive airway disease SKELETAL \- Dysostosis multiplex, mild (in some patients) Spine \- Lumbar-sacral spondylolisthesis Limbs \- Genu valgum Hands \- Carpal tunnel syndrome \- Claw-hand deformity Feet \- Pes cavus NEUROLOGIC Central Nervous System \- Normal intelligence \- Pachymeningitis cervicalis (cervical cord compression due to thickened dura) LABORATORY ABNORMALITIES \- Excretion of heparan sulfate in urine \- Excretion of dermatan sulfate in urine MISCELLANEOUS \- Onset of symptoms after age 5 \- Diagnosis typically between age 10-20 years \- Alpha-L-iduronidase activity is <1% for all forms of MPS1 \- MPS1 types are distinguished clinically by age of onset and progression or by mutation(s) MOLECULAR BASIS \- Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
SCHEIE SYNDROME
|
c0023786
| 7,632 |
omim
|
https://www.omim.org/entry/607016
| 2019-09-22T16:09:46 |
{"doid": ["0060222"], "mesh": ["D008059"], "omim": ["607016"], "icd-10": ["E76.03"], "orphanet": ["93474", "579"], "synonyms": ["MUCOPOLYSACCHARIDOSIS TYPE IS", "MPS V, FORMERLY", "Mucopolysaccharidosis type 1S", "MPS1S", "Alternative titles", "MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY", "MPSIS", "Mucopolysaccharidosis type IS"], "genereviews": ["NBK1162"]}
|
Branch retinal artery occlusion
Central retinal artery(at right)
SpecialtyOphthalmology
Branch retinal artery occlusion (BRAO) is a rare retinal vascular disorder in which one of the branches of the central retinal artery is obstructed.[1]
## Contents
* 1 Presentation
* 2 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Presentation[edit]
Abrupt painless loss of vision in the visual field corresponding to territory of the obstructed artery is the typical history of presentation. Patients can typically define the time and extent of visual loss precisely.
Retinal whitening that corresponds to the area of ischemia is the most notable finding. In chronic phase the retinal whitening disappears.
## Risk factors[edit]
Risk factors include:
* Hypertension
* Elevated lipid levels
* cigarette smoking
* Diabetes
## Diagnosis[edit]
Ancillary testing is not usually necessary to make the diagnosis. Fluorescein angiography reveals an abrupt diminution in dye at the site of the obstruction. Visual field testing can confirm the extent of visual loss.
## Treatment[edit]
No proved treatment exists for branch retinal artery occlusion. In the rare patient who has branch retinal artery obstruction accompanied by a systemic disorder, systemic anti-coagulation may prevent further events.[1]
## Epidemiology[edit]
The mean age of affected patients is 60 years. The right eye is affected more commonly than the left eye which probably reflects the greater possibility of cardiac or aortic emboli traveling to the right carotid artery. Most of the cases are due to emboli to the retinal circulation. Three main types of retinal emboli have been identified: Cholesterol, calcific, and fibrin-platelet.
## See also[edit]
* central retinal artery occlusion
## References[edit]
1. ^ a b Myron Yanoff; Jay S. Duker (2009). Ophthalmology (3rd ed.). Mosby Elsevier. pp. 592–594. ISBN 9780323043328.
## External links[edit]
Classification
D
External resources
* eMedicine: artery/1223362
*[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
|
Branch retinal artery occlusion
|
c0006123
| 7,633 |
wikipedia
|
https://en.wikipedia.org/wiki/Branch_retinal_artery_occlusion
| 2021-01-18T18:35:07 |
{"mesh": ["D015356"], "umls": ["C0006123"], "wikidata": ["Q4956398"]}
|
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).
*[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
|
Charcot-Marie-Tooth disease type 1F
|
c1843164
| 7,634 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101085
| 2021-01-23T18:12:04 |
{"gard": ["9191"], "mesh": ["C537987"], "omim": ["607734"], "umls": ["C1843164"], "icd-10": ["G60.0"], "synonyms": ["CMT1F"]}
|
Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine-like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age.
Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.
*[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
|
Hemicrania continua
|
c2349425
| 7,635 |
gard
|
https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua
| 2021-01-18T18:00:08 |
{"synonyms": []}
|
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 1 is caused by homozygous or compound heterozygous mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1; 609883) on chromosome 17q22.
Description
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.
### Genetic Heterogeneity of Meckel Syndrome
See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; and MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13.
Clinical Features
A great variety of malformations have been observed in Meckel syndrome. A frequent and particularly memorable combination is sloping forehead, posterior encephalocele, polydactyly, and polycystic kidneys. Fraser and Lytwyn (1981) concluded that cystic dysplasia of the kidneys is an obligate feature. Majewski et al. (1983) concluded that sometimes the polydactyly in Meckel syndrome is preaxial and that bowing of the long bones of the limbs occurs in about one-sixth of cases.
Pettersen (1984) described the gross anatomic changes of a newborn infant with the Meckel syndrome and noted differences from trisomy 13. Salonen (1984) reviewed the clinicopathologic findings in 67 cases in Finland, where the disorder is also unusually frequent. She proposed that cystic dysplasia of the kidneys with fibrotic changes in the liver and occipital encephalocele or some other central nervous system malformation are minimum diagnostic criteria. In a review of the pathologic findings in 9 cases, Blankenberg et al. (1987) concluded that a hepatic lesion is a consistent feature: arrested development of the intrahepatic biliary system at the stage of biliary cylinders with varying degrees of reactive bile duct proliferation, bile duct dilatation, portal fibrosis, and portal fibrous vascular obliteration. Death occurs in the perinatal period.
Herriot et al. (1991) described 2 sibs and another unrelated infant with Meckel syndrome in which the CNS anomaly was Dandy-Walker malformation (220200). Meckel syndrome type 7 (MKS7) has Dandy-Walker malformation as a more consistent feature.
Walpole et al. (1991) described a family in which 3 nonviable brothers had a variant of Dandy-Walker malformation associated with enlarged cystic dysplastic kidneys and hepatic fibrosis. The presence of these abnormalities in all 3 sibs in the absence of polydactyly and encephalocele suggested that this is a distinct syndrome, but its distinctness from the Meckel syndrome was by no means certain. Di Rocco (1993) suggested that the diagnosis in this case might be carbohydrate-deficient glycoprotein syndrome (CDG; 212065); she proposed that CDG syndrome should be considered in any patient with cerebellar dysplasia and renal or liver abnormalities. Summers and Donnenfeld (1995) described 3 sibs with varying manifestations of Meckel syndrome. The propositus had isolated cystic renal disease. In both of the other sibs, a prenatal diagnosis was made of renal disease, polydactyly, and Dandy-Walker malformation.
Al-Gazali et al. (1996) described an infant with occipital encephalocele, cystic kidneys, and postaxial polydactyly, who also manifested Dandy-Walker malformation. Al-Gazali et al. (1996) suggested that Dandy-Walker malformation should be added to the list of brain defects in Meckel syndrome. Castilla et al. (1998) performed an epidemiologic analysis of the association of polydactyly with other congenital anomalies in 5,927 consecutively born polydactyly cases. Trisomy 13, Meckel syndrome, and Down syndrome (190685) explained 255 of the 338 syndromic polydactyly cases. Down syndrome was strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly.
### Clinical Variability
Seller (1981) collated information on phenotypic variability in Meckel syndrome in the published cases: 57% had all 3 major features, which she defined as encephalocele, polycystic kidneys, and polydactyly; 16% had the 2 features found in her 4 cases, i.e., encephalocele and polycystic kidneys; in 9 of 17 families with more than 1 affected sib, manifestation was the same in the affected persons, and in the only other 2 families with 4 affected sibs, expression varied among the sibs.
Simpson et al. (1991) reported on a study in which all cases of confirmed neural tube defects (NTD) in the states of California and Illinois in the years 1985-1987, including liveborn infants as well as cases ascertained during pregnancy, were identified with as complete ascertainment as possible. Mothers were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had additional anomalies. The frequency of non-NTD-related anomalies was 22.9% (8/35) in encephalocele. The Meckel-Gruber syndrome was the most frequently identified specific syndrome. The high frequency of associated malformations suggested to Simpson et al. (1991) that caution must be exercised before assuming that a given case is polygenic-multifactorial in etiology, especially in cases of encephalocele.
Wright et al. (1994) described 2 sibs, the first of whom presented the classic Meckel syndrome triad, which they defined as encephalocele, postaxial polydactyly, and characteristic cystic changes in the kidney. The second sib showed none of these abnormalities but did show urethral atresia and preaxial polydactyly, 2 features previously described in some patients with Meckel syndrome. For example, 4 of the cases reviewed by Salonen (1984) had urethral atresia. The second sib showed features overlapping those of the entity reported as distal obstructive uropathy with polydactyly by Halal (1986); 2 unrelated stillborn infants had hydronephrosis, hydroureter, and bladder dilatation secondary to urethral obstruction, together with postaxial polydactyly. The 2 sibs illustrated the wide phenotypic spectrum of Meckel syndrome and the difficulty of defining minimum diagnostic criteria.
Nelson et al. (1994) described 3 brothers with Meckel syndrome whose father and his female paternal first cousin had postaxial polydactyly of both feet. They suggested that this represented a mild manifestation of the heterozygous carrier state. They referred to the report of Fitch and Pinsky (1973) who observed a family with postaxial polydactyly along with other possibly heterozygous manifestations. Gulati et al. (1997) reported a family in which 4 individuals had minor malformations related to Meckel syndrome. A sib of the proband had cleft lip and palate, a first cousin of the father had preaxial polydactyly, and her daughter had cleft lip. A second cousin of the mother had syndactyly of all 5 toes of the left foot.
The clinical delineation of MKS had long been confusing, and many authors, e.g., Mecke and Passarge (1971), Hunter et al. (1991), and Genuardi et al. (1993), had called attention to the number of ambiguous and overlapping syndromes that might be included under the general heading of cerebroacrovisceral (CAVE) multiplex syndrome, a designation introduced by Verloes et al. (1992).
Diagnosis
### Prenatal Diagnosis
In a pregnancy at risk, Pachi et al. (1989) made the prenatal diagnosis by finding at 10 weeks' gestation an abnormal anechoic cystic intracranial image, and at 13 weeks' gestation a skull defect in the occipital area through which part of the brain and meninges protruded into the amniotic cavity as well as abnormally enlarged kidneys.
Karmous-Benailly et al. (2005) speculated that fetuses with an antenatal diagnosis of Meckel or 'Meckel-like' syndrome (see 208540), because of the presence of cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele, might be instances of Bardet-Biedl syndrome (BBS; 209900). They sequenced the 8 BBS genes in a series of 13 such cases. In 6, they identified a recessive mutation in a BBS gene: 3 in BBS2 (606151), 2 in BBS4 (600374), and 1 in BBS6 (604896). In addition to these homozygous mutations, they found a heterozygous BBS6 mutation in 3 additional cases. In their series there were no mutations found in BBS1, BBS3 (ARL6; 608845), BBS5, BBS7, or BBS8. The results indicated that the antenatal presentation of BBS may mimic Meckel syndrome.
Inheritance
Numerous examples of affected sibs, concordance in presumedly monozygotic twins (Stockard, 1921), roughly equal occurrence in males and females, and parental consanguinity in some instances (Tucker et al., 1966; Walbaum et al., 1967) make autosomal recessive inheritance quite certain. Simopoulos et al. (1967) described 3 male sibs with polycystic kidneys, internal hydrocephalus, and postaxial polydactyly. The parents were not related. Hsia et al. (1971) described 7 cases in 2 sibships: 2 sets of monozygotic twins in one and 3 sibs in another. Although many of the features suggest trisomy 13, occipital encephalocele has apparently never been observed in the chromosomal aberration. Mecke and Passarge (1971) reported 2 affected sisters. Seller (1981) described a family with 4 affected sibs. Each manifested only 2 of the 3 cardinal signs; all had encephalocele and polycystic kidneys, but none had polydactyly.
Salonen and Norio (1984) found good support for autosomal recessive inheritance; the proportion of affected sibs, corrected for truncate complete ascertainment, was 0.261. No parental consanguinity was found among the Finnish cases, a finding not surprising because of the high frequency of the gene in Finland, the generally low frequency of close marriage in that country and the fact that ancestry was not traced back far enough to find remote consanguinity.
Farag et al. (1990) described the Meckel syndrome in 5 sibs of a Bedouin family, each of whom had occipital encephalocele and polycystic kidneys but lacked polydactyly.
Mapping
Paavola et al. (1995) mapped the MES locus to 17q21-q24 in a 13-cM region using microsatellite DNA markers. Paavola et al. (1995) found no obligatory recombination between MES and the growth hormone gene (139250). The HOXB gene cluster (e.g., 142968) is located nearby at 17q21-q22 and abnormalities of some of the Hoxb genes in mice lead to multiple malformations bearing some parallels to the MES phenotype. However, Paavola et al. (1995) found obligatory recombinants between the HOXB6 (142961) locus and MES.
Paavola et al. (1999) studied further the location of the genes for Meckel syndrome and mulibrey nanism (253250), which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in MKS and MUL patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized.
Heterogeneity
Paavola et al. (1997) demonstrated clinical and genetic heterogeneity in Meckel syndrome in studies of 1 Italian family, 1 Austrian family (of Turkish origin), and 3 British families (Caucasian, Pakistani, and Bangladeshi). They excluded cosegregation of the disease and marker haplotypes in the Austrian family and in the 3 British families, of which 2 represented classic Meckel syndrome and 1 a somewhat atypical Meckel syndrome phenotype with longer survival of the patient. In the Italian family, with 1 affected child, the affected and unaffected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. The results suggested locus heterogeneity in Meckel syndrome, a feature previously suspected because of the highly variable clinical phenotype.
Shaheen et al. (2011) identified 3 consanguineous Arab families with Meckel-Gruber syndrome. In 2 of these families, no mutation was identified. While the phenotype in 1 of these families mapped to the MKS3 locus (607361), no mutation was found in the TMEM67 gene (609884). In the other family, homozygosity scan confidently excluded all MKS loci known to that time, indicating that, since compound heterozygosity is unlikely to exist in the setting of first-cousin unions, 2 novel MKS loci are likely to exist in the study population. The remaining family carried a mutation in the TCTN2 gene (see 613846.0001 and MKS8, 613885).
Population Genetics
In Finland, Salonen and Norio (1984) found that Meckel syndrome has a birth prevalence of 1:9,000 and a disease gene frequency of 0.01, which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage,' that is, genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are reported from other populations. Lurie et al. (1984) pointed to a relatively high frequency of the syndrome among Tatars in the Soviet Union.
Auber et al. (2007) identified the 29-bp deletion in intron 15 of the MKS1 gene (609883.0001) in 8 of 20 unrelated fetuses diagnosed clinically with MKS. Six cases, consisting of 1 heterozygous and 5 homozygous mutations, had the campomelic variant of the disorder. The carrier frequency of this mutation in the German population was determined to be 1 in 260, and the incidence of MKS was estimated at 1 in 135,000.
Molecular Genetics
Kyttala et al. (2006) identified a gene, which they designated MKS1 (609883), that was mutated in Meckel syndrome families linked to 17q. Expression of the Mks1 gene in mouse embryos, as determined by in situ hybridization, agreed well with the tissue phenotype of Meckel syndrome. Comparative genomics and proteomics data implicated MKS1 in ciliary functions.
Consugar et al. (2007) identified mutations in the MKS1 gene in affected individuals in 5 of 17 families with a clinical diagnosis of Meckel syndrome. All 5 families had the major Finnish deletion mutation (609883.0001): 2 were homozygous, and 3 were compound heterozygous with another pathogenic MKS1 mutation (609883.0004 and 609883.0005). All cases with available data had polydactyly. Five of 17 families had mutations in the TMEM67 gene (609884) consistent with MKS3, and 7 families had no detectable mutation in either MKS1 or TMEM67, suggesting further genetic heterogeneity.
Animal Model
Weatherbee et al. (2009) showed that loss of function of mouse Mks1 resulted in an accurate model of Meckel syndrome, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development, and the kidney. In contrast to cell culture studies, loss of Mks1 in vivo did not interfere with apical localization of epithelial basal bodies, but rather led to defective cilia formation in most, but not all, tissues. Analysis of patterning in the neural tube and the limb demonstrated altered Hedgehog (Hh) pathway signaling underlying some MKS defects, although both tissues showed an expansion of the domain of response to Shh (600725) signaling, unlike the phenotypes seen in other mutants with cilia loss. Other defects in the skull, lung, rib cage, and long bones were thought likely to be the result of disruption of Hh signaling. Weatherbee et al. (2009) concluded that disruption of Hh signaling may explain many, but not all, of the defects caused by loss of Mks1.
Nomenclature
This condition was called dysencephalia splanchnocystica by Gruber (1934); it has been called Gruber syndrome. Opitz and Howe (1969) suggested it be called Meckel syndrome because of the clear description by Johann Friedrich Meckel (1822).
History
In 1984, the American Journal of Medical Genetics published a large issue devoted mainly to papers on the Meckel syndrome, derived from a Meckel symposium organized by the editor, John M. Opitz, which was held on the bicentennial of the birth of Johann Friedrich Meckel the Younger (1781-1833). (See editorial (1970) and Seidler (1984) for biographical information on Meckel.)
Opitz et al. (2006) gave a further review of the role of Meckel in developmental pathology.
INHERITANCE \- Autosomal recessive GROWTH Other \- Variable prenatal growth deficiency HEAD & NECK Head \- Microcephaly Face \- Sloping forehead \- Micrognathia \- Potter-like facies Ears \- Low-set ears Eyes \- Microphthalmia \- Hypotelorism \- Hypertelorism \- Iris coloboma Mouth \- Cleft palate \- Cleft lip \- Lobulated tongue \- Natal teeth \- Macrostomia Neck \- Short neck \- Webbed neck CARDIOVASCULAR Heart \- Septal defects \- Coarctation of aorta Vascular \- Patent ductus arteriosus RESPIRATORY Larynx \- Cleft epiglottis Lung \- Pulmonary hypoplasia ABDOMEN Biliary Tract \- Bile duct proliferation \- Bile duct dilatation Spleen \- Splenomegaly \- Asplenia \- Accessory spleen Gastrointestinal \- Single umbilical artery \- Omphalocele \- Intestinal malrotation \- Imperforate anus GENITOURINARY External Genitalia (Male) \- Small genitalia \- Ambiguous genitalia External Genitalia (Female) \- Small genitalia \- Ambiguous genitalia Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Separated vagina \- Uterine abnormalities Kidneys \- Polycystic kidneys \- Renal agenesis Ureters \- Duplicated ureters Bladder \- Hypoplastic bladder SKELETAL Limbs \- Bowed long bones Hands \- Postaxial polydactyly \- Syndactyly \- Clinodactyly Feet \- Talipes \- Polydactyly NEUROLOGIC Central Nervous System \- Arnold-Chiari malformation \- Occipital encephalocele \- Hydrocephalus \- Dandy-Walker malformation \- Cerebral hypoplasia \- Cerebellar hypoplasia \- Olfactory lobe absence \- Anencephaly \- Absence of corpus callosum \- Optic tract agenesis ENDOCRINE FEATURES \- Adrenal hypoplasia PRENATAL MANIFESTATIONS Amniotic Fluid \- Oligohydramnios \- Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele Placenta & Umbilical Cord \- Placental enlargement Delivery \- Breech presentation MISCELLANEOUS \- Perinatal death \- Prenatal diagnosis by ultrasound MOLECULAR BASIS \- Caused by mutation in the MKS1 gene (MKS1, 609883.0001 ) ▲ 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
|
MECKEL SYNDROME, TYPE 1
|
c0265215
| 7,636 |
omim
|
https://www.omim.org/entry/249000
| 2019-09-22T16:25:31 |
{"doid": ["0070115"], "omim": ["249000"], "orphanet": ["564"], "synonyms": ["Alternative titles", "MECKEL-GRUBER SYNDROME, TYPE 1", "MECKEL SYNDROME", "MES", "DYSENCEPHALIA SPLANCHNOCYSTICA", "GRUBER SYNDROME", "MECKEL-GRUBER SYNDROME"]}
|
Aeromonas infections include skin infections such as cellulitis, pustules, and furuncles.[1]:279 Aeromonas species can also cause gastroenteritis.[2][3]
Aeromonas infections can sometimes be spread by leech bites.[4]
## See also[edit]
* Aeromonas
* Chromobacteriosis infection
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
2. ^ Abuhammour, W.; Hasan, R.A.; Rogers, D. (2006). "Necrotizing fasciitis caused by Aeromonas hydrophilia in an immunocompetent child". Pediatr Emerg Care. 22 (1): 48–51. doi:10.1097/01.pec.0000195755.66705.f8. PMID 16418613.
3. ^ Minnaganti, V.R.; Patel, P.J.; Iancu, D.; Schoch, P.E. (2000). "Necrotizing fasciitis caused by Aeromonas hydrophila". Heart Lung. 29 (4): 306–8. doi:10.1067/mhl.2000.106723. PMID 10900069.
4. ^ Maetz, Benjamin; Abbou, Ralph; Andreoletti, Jean Baptiste; Bruant-Rodier, Catherine (2012). "Infections following the application of leeches: two case reports and review of the literature". Journal of Medical Case Reports. 6: 364. doi:10.1186/1752-1947-6-364. PMC 3545892. PMID 23098279.
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
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* Boutonneuse fever
* Rickettsia japonica
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* Rickettsia sibirica
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* Rickettsia felis
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Rhizobiales
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* Bartonellosis: Bartonella henselae
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β
Neisseriales
M+
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* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
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γ
Enterobacteriales
(OX−)
Lac+
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* Escherichia coli: Enterotoxigenic
* Enteroinvasive
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* O157:H7
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* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
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* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
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H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
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Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
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Thiotrichales
* Francisella tularensis
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Vibrionaceae
* Vibrio cholerae
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* Vibrio vulnificus
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Pseudomonadales
* Pseudomonas aeruginosa
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* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
This infection-related 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
|
Aeromonas infection
|
c0851848
| 7,637 |
wikipedia
|
https://en.wikipedia.org/wiki/Aeromonas_infection
| 2021-01-18T18:39:12 |
{"wikidata": ["Q4688334"]}
|
Birthing obstruction complication
Shoulder dystocia
Suprapubic pressure being used in a shoulder dystocia
SpecialtyObstetrics
SymptomsRetraction of the babies head back into the vagina[1]
ComplicationsBaby: Brachial plexus injury, clavicle fracture[2]
Mother: Vaginal or perineal tears, postpartum bleeding[3]
Risk factorsGestational diabetes, previous history of the condition, operative vaginal delivery, obesity in the mother, an overly large baby, epidural anesthesia[2]
Diagnostic methodBody fails to deliver within one minute of the head[2]
TreatmentMcRoberts maneuver, suprapubic pressure, Rubin maneuver, episiotomy, all fours, Zavanelli's maneuver followed by cesarean section[3][2]
Frequency~ 1% of vaginal births[2]
Shoulder dystocia is when, after vaginal delivery of the head, the baby's anterior shoulder gets caught above the mother's pubic bone.[3][1] Signs include retraction of the baby's head back into the vagina, known as "turtle sign".[1] Complications for the baby may include brachial plexus injury, or clavicle fracture.[2][1] Complications for the mother may include vaginal or perineal tears, postpartum bleeding, or uterine rupture.[3][1]
Risk factors include gestational diabetes, previous history of the condition, operative vaginal delivery, obesity in the mother, an overly large baby, and epidural anesthesia.[2] It is diagnosed when the body fails to deliver within one minute of delivery of the baby's head.[2] It is a type of obstructed labour.[4]
Shoulder dystocia is an obstetric emergency.[3] Initial efforts to release a shoulder typically include: with a woman on her back pushing the legs outward and upward, pushing on the abdomen above the pubic bone, and making a cut in the vagina.[3] If these are not effective, efforts to manually rotate the baby's shoulders or placing the woman on all fours may be tried.[3][2] Shoulder dystocia occurs in approximately 0.4% to 1.4% of vaginal births.[2] Death as a result of shoulder dystocia is very uncommon.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Risk factors
* 3 Management
* 3.1 Procedures
* 4 Epidemiology
* 5 References
* 6 External links
## Signs and symptoms[edit]
One characteristic of a minority of shoulder dystocia deliveries is the turtle sign, which involves the appearance and retraction of the baby's head (analogous to a turtle withdrawing into its shell), and a red, puffy face. This occurs when the baby's shoulder is obstructed by the maternal pelvis.
### Complications[edit]
Fracture of both clavicles as a result of shoulder dystocia (top) – Post healing (bottom)
One complication of shoulder dystocia is damage to the upper brachial plexus nerves. These supply the sensory and motor components of the shoulder, arm, and hands. The ventral roots (motor pathway) are most prone to injury.[citation needed] The cause of injury to the baby is debated,[citation needed] but a probable mechanism is manual stretching of the nerves, which in itself can cause injury.[citation needed] Excess tension may physically tear the nerve roots out from the neonatal spinal column, resulting in total dysfunction.[citation needed]
Possible complications include:
* Neonatal complications:
* Klumpke paralysis
* Erb's palsy
* Hypoxia
* Death
* Cerebral palsy
* Maternal complications:[5]
* Postpartum bleeding (11%)
* Perineal lacerations that extend into the anal sphincter
* Pubic symphysis separation
* Neuropathy of lateral femoral cutaneous nerve
* Uterine rupture
## Risk factors[edit]
About 16% of deliveries where shoulder dystocia occurs have conventional risk factors.[citation needed] These include diabetes,[6] fetal macrosomia, and maternal obesity.[7][8]
Risk factors:[9]
* Age >35
* Short in stature
* Small or abnormal pelvis
* More than 42 weeks gestation
* Estimated fetal weight >4,500 g
* Maternal diabetes (2–4 fold increase in risk)
Factors which increase the risk/are warning signs:[citation needed]
* Need for oxytocics
* Prolonged first or second stage of labour
* Turtle sign (head bobbing in the second stage)
* Failure to restitute
* No shoulder rotation or descent
* Instrumental delivery
For women with a previous shoulder dystocia, the risk of recurrence is at least 10%.[5]
## Management[edit]
The steps to treating a shoulder dystocia are outlined by the mnemonic ALARMER:[10]
* Ask for help.[2] This involves asking for the help of an obstetrician, anesthesia, and for pediatrics for subsequent resuscitation of the infant that may be needed if the methods below fail;
* Leg hyperflexion and abduction at the hips (McRoberts maneuver);[2]
* Anterior shoulder disimpaction (suprapubic pressure);[10]
* Rotation of the shoulder (Rubin maneuver);[10]
* Manual delivery of posterior arm;[10]
* Episiotomy;[10]
* Roll over on all fours.[10]
Typically the procedures are performed in the order listed and the sequence ends whenever a technique is successful.[10] Intentional fracturing of the clavicle is another possibility at non-operative vaginal delivery prior to Zavanelli's maneuver or symphysiotomy, both of which are considered extraordinary treatment measures. Pushing on the fundus is not recommended.[1]
Simulation training of health care providers to prevent delays in delivery when a shoulder dystocia prevents is useful.[11]
### Procedures[edit]
A number of labor positions and maneuvers are sequentially performed in attempt to facilitate delivery. These include:[10]
* McRoberts maneuver;[12][13] involves hyperflexing the mother's legs tightly to her abdomen. This widens the pelvis, and flattens the spine in the lower back (lumbar spine). If this maneuver does not succeed, an assistant applies pressure on the lower abdomen (suprapubic pressure), and the delivered head is also gently pulled. The technique is effective in about 42% of cases;
* Suprapubic pressure (or Rubin I);[14]
* Rubin II or posterior pressure on the anterior shoulder, which would bring the baby into an oblique position with the head somewhat towards the vagina;[15]
* Active delivery of the anterior arm
* Step 1: Index and middle fingers insertion with the hand opposite the baby's face
* Step 2: Baby's head slightly tilted downward with the free hand
* Step 3: Two fingers are placed on the humerus like a splint
* Step 4: Baby's hand appears under the maternal pubic symphysis, allowing the anterior arm to be delivered
* Wood's screw maneuver which leads to turning the anterior shoulder to the posterior and vice versa (somewhat the opposite of Rubin II maneuver);[16]
* Jacquemier's maneuver (also called Barnum's maneuver), or delivery of the posterior shoulder first, in which the forearm and hand are identified in the birth canal, and gently pulled;
* Gaskin maneuver involves moving the mother to an all fours position with the back arched, widening the pelvic outlet.[17][18]
More drastic maneuvers include:
* Zavanelli's maneuver, which involves pushing the baby's head back in (internal cephalic replacement) followed by a cesarean section;[19]
* Intentional causing clavicular fractures, which reduces the diameter of the shoulders that requires to pass through the birth canal;[2]
* Maternal symphysiotomy, which makes the opening of the birth canal laxer by breaking the connective tissue between the two pubes bones;[2]
* Abdominal rescue, described by O'Shaughnessy, where a hysterotomy facilitates vaginal delivery of the impacted shoulder.[20]
## Epidemiology[edit]
Shoulder dystocia occurs in about 0.15% to 4% of term vaginal births.[21]
## References[edit]
1. ^ a b c d e f g Gherman, Robert B.; Gonik, Bernard (2009). "Shoulder Dystocia". The Global Library of Women's Medicine. doi:10.3843/GLOWM.10137.
2. ^ a b c d e f g h i j k l m n Dahlke, JD; Bhalwal, A; Chauhan, SP (June 2017). "Obstetric Emergencies: Shoulder Dystocia and Postpartum Hemorrhage". Obstetrics and Gynecology Clinics of North America. 44 (2): 231–243. doi:10.1016/j.ogc.2017.02.003. PMID 28499533.
3. ^ a b c d e f g "Shoulder dystocia" (PDF). Royal College of Obstetricians and Gynaecologists. 2013. Retrieved 3 October 2018.
4. ^ Buck, Carol J. (2016). 2017 ICD-10-CM Standard Edition - E-Book. Elsevier Health Sciences. p. 108. ISBN 9780323484572.
5. ^ a b "Practice Bulletin No. 178 Summary: Shoulder Dystocia". Obstetrics & Gynecology. 129 (5): 961–962. 2017-05-01. doi:10.1097/AOG.0000000000002039. ISSN 0029-7844. PMID 28426613.
6. ^ Jouatte F, Aitken B, Dufour P, et al. (December 1999). "Diabète antérieur à la grossesse, à propos de 143 observations" [Diabetes before pregnancy, apropos of 143 cases]. Contracept Fertil Sex (in French). 27 (12): 845–52. PMID 10676041.
7. ^ Breeze AC, Lees CC (2004). "Managing shoulder dystocia". Lancet. 364 (9452): 2160–1. doi:10.1016/S0140-6736(04)17607-1. PMID 15610787. S2CID 32749564.
8. ^ Murray; McKinney (2006). "Intrapartum Complications Chapter 27)". Foundations of Maternal-Newborn and Women's Health Nursing (Fifth ed.). Saunders Elsevier. p. 697. ISBN 978-1-4377-0259-0.
9. ^ Royal College of Obstetricians and Gynaecologists (March 2012). "Shoulder Dystocia" (PDF). Cite journal requires `|journal=` (help)
10. ^ a b c d e f g h "Obstetrical Emergencies - Shoulder Dystocia" (PDF). PSBC. 2011. Retrieved 3 October 2018.
11. ^ Gilstrop, M; Hoffman, MK (December 2016). "An Update on the Acute Management of Shoulder Dystocia". Clinical Obstetrics and Gynecology. 59 (4): 813–819. doi:10.1097/GRF.0000000000000240. PMID 27681692.
12. ^ Stallard TC, Burns B (August 2003). "Emergency delivery and perimortem C-section". Emerg. Med. Clin. North Am. 21 (3): 679–93. doi:10.1016/S0733-8627(03)00042-7. PMID 12962353.
13. ^ Kish & Collea 2003, p. 382 harvnb error: no target: CITEREFKishCollea2003 (help)
14. ^ "Shoulder Dystocia Management". Archived from the original on 2007-10-08. Retrieved 2007-11-28.
15. ^ Baxley EG, Gobbo RW (April 2004). "Shoulder dystocia". Am Fam Physician. 69 (7): 1707–14. PMID 15086043.
16. ^ "Fetal Dystocia: Abnormalities and Complications of Labor and Delivery: Merck Manual Professional". Retrieved 2007-11-28.
17. ^ Murray, Michelle; Huelsmann, Gayle (2008-12-15). Labor and Delivery Nursing: Guide to Evidence-Based Practice. Springer Publishing Company. pp. 143–144. ISBN 978-0-8261-1803-5.
18. ^ Murray, Michelle; Huelsmann, Gayle (2008-12-15). Labor and Delivery Nursing. Labor and Delivery Nursing: A Guide to Evidence-Based Practice. Springer Publishing. ISBN 978-0-8261-1803-5. Retrieved 2009-02-01.
19. ^ Fernandez H, Papiernik E (1990). "Manoeuvre de Zavanelli : application à la rétention de tête dernière au détroit supérieur : à propos d'une observation" [The Zavanelli maneuver: use during breech retention of the head in the birth canal. Apropos of a case]. J Gynecol Obstet Biol Reprod (Paris) (in French). 19 (4): 483–5. PMID 2380511.
20. ^ O'Shaughnessy MJ (October 1998). "Hysterotomy facilitation of the vaginal delivery of the posterior arm in a case of severe shoulder dystocia". Obstet Gynecol. 92 (4 Pt 2): 693–5. doi:10.1016/S0029-7844(98)00153-7. PMID 9764668. S2CID 42443502.
21. ^ "Shoulder Dystocia: Overview, Indications, Contraindications". 21 June 2017. Retrieved 2 April 2019. Cite journal requires `|journal=` (help)
## External links[edit]
Classification
D
* ICD-10: O66.0
* ICD-9-CM: 660.4
* DiseasesDB: 12036
* GLOWM video showing management of shoulder dystocia
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
*[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
|
Shoulder dystocia
|
c0269825
| 7,638 |
wikipedia
|
https://en.wikipedia.org/wiki/Shoulder_dystocia
| 2021-01-18T18:44:48 |
{"icd-9": ["660.4"], "icd-10": ["O66.0"], "wikidata": ["Q420240"]}
|
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
*[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
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
c1834659
| 7,639 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=266
| 2021-01-23T17:53:46 |
{"gard": ["10229"], "mesh": ["C535906"], "omim": ["159000", "609200"], "umls": ["C1834659"], "icd-10": ["G71.0"], "synonyms": ["LGMD1A", "Limb-girdle muscular dystrophy due to myotilin deficiency"]}
|
Carbon stain
SpecialtyDermatology
Carbon stains are a skin condition characterized by a discoloration of the skin from embedded carbon, usually occurring in children from accidents with firearms or firecrackers, or from a puncture wound by a pencil, which may leave a permanent black mark of embedded graphite, easily mistaken for metastatic melanoma.[1]:47
## See also[edit]
* Soot tattoo
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
* v
* t
* e
Cutaneous keratosis, ulcer, atrophy, and necrobiosis
Epidermal thickening
* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum
* keratosis: Seborrheic keratosis
* Clonal seborrheic keratosis
* Common seborrheic keratosis
* Irritated seborrheic keratosis
* Seborrheic keratosis with squamous atypia
* Reticulated seborrheic keratosis
* Dermatosis papulosa nigra
* Keratosis punctata of the palmar creases
* other hyperkeratosis: Acanthosis nigricans
* Confluent and reticulated papillomatosis
* Callus
* Ichthyosis acquisita
* Arsenical keratosis
* Chronic scar keratosis
* Hyperkeratosis lenticularis perstans
* Hydrocarbon keratosis
* Hyperkeratosis of the nipple and areola
* Inverted follicular keratosis
* Lichenoid keratosis
* Multiple minute digitate hyperkeratosis
* PUVA keratosis
* Reactional keratosis
* Stucco keratosis
* Thermal keratosis
* Viral keratosis
* Warty dyskeratoma
* Waxy keratosis of childhood
* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata
Necrobiosis/granuloma
Necrobiotic/palisading
* Granuloma annulare
* Perforating
* Generalized
* Subcutaneous
* Granuloma annulare in HIV disease
* Localized granuloma annulare
* Patch-type granuloma annulare
* Necrobiosis lipoidica
* Annular elastolytic giant-cell granuloma
* Granuloma multiforme
* Necrobiotic xanthogranuloma
* Palisaded neutrophilic and granulomatous dermatitis
* Rheumatoid nodulosis
* Interstitial granulomatous dermatitis/Interstitial granulomatous drug reaction
Foreign body granuloma
* Beryllium granuloma
* Mercury granuloma
* Silica granuloma
* Silicone granuloma
* Zirconium granuloma
* Soot tattoo
* Tattoo
* Carbon stain
Other/ungrouped
* eosinophilic dermatosis
* Granuloma faciale
Dermis/
localized CTD
Cutaneous lupus
erythematosus
* chronic: Discoid
* Panniculitis
* subacute: Neonatal
* ungrouped: Chilblain
* Lupus erythematosus–lichen planus overlap syndrome
* Tumid
* Verrucous
* Rowell's syndrome
Scleroderma/
Morphea
* Localized scleroderma
* Localized morphea
* Morphea–lichen sclerosus et atrophicus overlap
* Generalized morphea
* Atrophoderma of Pasini and Pierini
* Pansclerotic morphea
* Morphea profunda
* Linear scleroderma
Atrophic/
atrophoderma
* Lichen sclerosus
* Anetoderma
* Schweninger–Buzzi anetoderma
* Jadassohn–Pellizzari anetoderma
* Atrophoderma of Pasini and Pierini
* Acrodermatitis chronica atrophicans
* Semicircular lipoatrophy
* Follicular atrophoderma
* Linear atrophoderma of Moulin
Perforating
* Kyrle disease
* Reactive perforating collagenosis
* Elastosis perforans serpiginosa
* Perforating folliculitis
* Acquired perforating dermatosis
Skin ulcer
* Pyoderma gangrenosum
Other
* Calcinosis cutis
* Sclerodactyly
* Poikiloderma vasculare atrophicans
* Ainhum/Pseudo-ainhum
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
|
Carbon stain
|
None
| 7,640 |
wikipedia
|
https://en.wikipedia.org/wiki/Carbon_stain
| 2021-01-18T18:37:18 |
{"wikidata": ["Q5037996"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-25 (DFNA25) is caused by heterozygous mutation in the SLC17A8 (607557) gene on chromosome 12q23.
Clinical Features
Greene et al. (2001) reported a large Czech family in which several members had a nonsyndromic, slowly progressive, hearing impairment. The frequencies most commonly affected were over 2,000 Hz. Age at onset varied from before age 20 to the sixth decade.
In a follow-up on the Czech family reported by Greene et al. (2001), Thirlwall et al. (2003) stated that 155 members over 4 generations had been examined. Affected family members typically had high frequency, slowly progressive, sensorineural hearing loss with postlingual onset. All of those considered to be affected shared a common haplotype inherited from their mothers. Six unaffected family members had inherited the common haplotype from their fathers. Three male family members with significant hearing loss who did not share the common haplotype were considered to have a phenocopy because they had experienced significant occupational noise exposure.
Mapping
Using linkage analysis in a large multigenerational U.S. family of Czech descent, Greene et al. (2001) identified a novel locus, DFNA25, for dominant nonsyndromic hereditary hearing impairment. Based on recombinations in affected individuals, they localized DFNA25 to a 20-cM region of 12q21-q24, with a maximum 2-point lod score of 6.82 at recombination fraction 0.041 for D12S1030. Because the deafness in this family was delayed in onset, progressive, and involved loss of high frequencies, the phenotype was similar to presbycusis. For this reason, Greene et al. (2001) suggested that the DFNA25 locus might be a candidate region for presbycusis in the general population.
In a 6-year-old boy with congenital severe hearing loss, developmental delay, and minor anomalies, Petek et al. (2003) identified a de novo deletion in the 12q22-q24.1 region. By FISH analysis, they narrowed the DFNA25 critical region to a 13-cM interval and demonstrated that the derivative chromosome in this boy was paternal in origin.
Molecular Genetics
In the original family studied by Greene et al. (2001) and in an American family of German descent, Ruel et al. (2008) identified a heterozygous ala211-to-val (A211V) missense mutation in the SLC17A8 gene (607557.0001) segregating with autosomal dominant deafness. The mutation was not present in 267 controls. Linkage disequilibrium analysis suggested that the families had a distant common ancestor. The alanine at position 211 is conserved in vesicular glutamate transporter-3, encoded by SLC17A8, across all species and in all human VGLUT subtypes, suggesting an important functional role.
Animal Model
Seal et al. (2008) generated Slc17a8-null mice by homologous recombination in mouse embryonic stem cells. Mice lacking Vglut3 are profoundly deaf due to the absence of glutamate release from hair cells at the first synapse of the auditory pathway. The early degeneration of some cochlear ganglion neurons in knockout mice indicated an important developmental role for the glutamate released by hair cells before the onset of hearing.
Ruel et al. (2008) found that Slc17a8-null mice lacked auditory nerve responses to acoustic stimuli, although auditory brainstem responses could be elicited by electrical stimuli, and robust otoacoustic emissions were recorded. Calcium ion-triggered synaptic vesicle turnover was normal in the inner hair cells of Slc17a8-null mice when probed by membrane capacitance measurements. Later, the number of afferent synapses, spiral ganglion neurons, and lateral efferent endings below sensory inner hair cells declined. Ribbon synapses remaining by 3 months of age had a normal ultrastructural appearance. Ruel et al. (2008) concluded that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the inner hair cell synapse.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural, progressive, high-frequency \- Normal vestibular function MISCELLANEOUS \- Variable severity \- Variable audiometric pattern \- Variable age of onset, ranging from 3 months to over 60 years of age \- Affected male members reported earlier onset and were more severely affected \- Two families have been reported (last curated May 2016) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 17 (vesicular glutamate cotransporter), member 8 gene (SLC17A8, 607557.0001 ) ▲ 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
|
DEAFNESS, AUTOSOMAL DOMINANT 25
|
c1854158
| 7,641 |
omim
|
https://www.omim.org/entry/605583
| 2019-09-22T16:11:21 |
{"doid": ["0110555"], "mesh": ["C565319"], "omim": ["605583"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "Autosomal dominant non-syndromic neurosensory deafness type DFNA", "Autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "Autosomal dominant non-syndromic sensorineural hearing loss type DFNA"], "genereviews": ["NBK1434"]}
|
In 2016, the prevalence rate of HIV/AIDS in adults aged 15–49 was 0.3%, relatively low for a developing country.[1] This low prevalence has been maintained, as in 2006, the HIV prevalence in Mexico was estimated at around 0.3% as well. The infected population is remains mainly concentrated among high risk populations, MSM, intravenous drug users, and commercial sex workers. This low national prevalence is not reflected in the high-risk populations. The prison population in Mexico, faces a fairly similar low rate of around 0.7%. Among the population of prisoners, around 2% are known to be infected with HIV. Sex workers, male and female, face an HIV prevalence of around 7%. Identifying gay men and MSM have a prevalence of 17.3%. The highest risk-factor group is identifying transgender people; about 17.4% of this population is known to be infected with HIV.[1] Around 90% of new infections occur by sex-related methods of transmission. . Of these known infected populations, around 60% of living infected people are known to be on anti-retroviral therapy (ART).[1]
## Contents
* 1 Drivers of Transmission
* 1.1 Men who have sex with men (MSM)
* 1.2 Intravenous Drug Users (IDUs)
* 1.3 Population Mobility
* 1.4 Heterosexual Transmission
* 1.5 Urban Concentration
* 1.6 Tuberculosis Co-infection
* 2 Border Cities
* 2.1 Commercial Sex Workers
* 2.2 IDUs
* 3 Discrimination
* 4 National response
* 4.1 Condonetas
* 4.2 Government Recognition
* 5 See also
* 6 References
## Drivers of Transmission[edit]
### Men who have sex with men (MSM)[edit]
The AIDS epidemic is concentrated primarily among MSM, sex workers and their clients, and intravenous drug users. Results of a 2006 study by Bravo-Garcia et al. reported by UNAIDS indicate that sex between men accounts for 57 percent of the HIV infections. Mexico's National Center for HIV/AIDS Prevention and Control (CENSIDA) estimates that HIV prevalence among MSM was 10 to 13.5 percent in 2006. Results from studies in 2006 by Gayet et al., Magis et al., and the Biological Behavioral Surveillance Survey conducted in Mexico showed that HIV prevalence rates among male sex workers were 25 percent in Monterrey, 20 percent in Guadalajara and Mexico City, and 12 percent in Ciudad Nezahualcóyotl.[1][citation needed]
### Intravenous Drug Users (IDUs)[edit]
A gradual shift is occurring toward higher rates of infection among both injecting drug users (IDUs) and women, and rates are also rising among female sex workers (FSWs).[citation needed] A 2004–2006 study by Patterson et al. in 2006 showed that HIV prevalence in Tijuana and Ciudad Juárez, cities on the U.S. border, was 6 percent among FSWs and 16 percent among IDUs. Research by Gayet et al. in 2006 also showed that HIV prevalence among male long-distance truck drivers in Monterrey was 0.7 percent (double the estimated national adult HIV prevalence). More than one-quarter of them had paid for sex in the previous year and one-sixth of them had never used a condom. The role of IDUs in Mexico's epidemic is difficult to determine, but an association with drug use has been observed in cities along the border with the United States, where the spread of HIV through the sharing of drug-injecting equipment is of growing concern.
### Population Mobility[edit]
Population mobility is a factor in HIV/AIDS transmission in Mexico. Though the overall infection prevalence is relatively low nationwide, the prevalence of HIV in border cities is disproportionately higher. Border cities, such as Tijuana and Ciudad Juarez are major sites of drug trafficking, sex trafficking, and commercial sex work and tourism. About 90% of the methamphetamine and 30% of the heroin in the United States was made in Mexico and smuggled in through the border.[2] Cross-border activity, including immigration from Central America and the influx of those returning from migrant work in the United States, has contributed to the spread of the epidemic, particularly in rural parts of the country. Mobile populations are at higher risk of HIV infection because of poverty, violence, lack of access to health services, increased risk-taking behavior, rape, loneliness, and the availability of sex workers.[2] Migrant work between the United States and Mexico has been common among Mexican workers searching for seasonal work, often in agriculture. The wealth disparity that exists between Mexico and the United States creates an economy between the two countries in which large numbers of Mexican workers are constantly seeking work on the other side of the border due to economic and political instability in the Mexican government. In Mexico in particular, the income gap that exists between the upper and lower classes is severe, and issues of poverty plague areas throughout the country. In general, there are large concentrations of high-risk populations moving to and from the border cities of Mexico and the United States. "Tijuana and San Diego share the busiest land-border crossing in the world, with 45.9 million northbound legal border crossings in 2006 alone. Considerable bidirectional mobility exists among high-risk populations at this international border crossing."[2]
### Heterosexual Transmission[edit]
Although the epidemic in Mexico remains concentrated, it could become generalized due to high-risk behaviors in the general population. There are signs that heterosexual transmission of HIV is increasing as more women are being infected. According to a recent population-based survey by the National Council for HIV/AIDS Prevention and Control, in 2001, 15 percent of married and cohabitating men reported extrarelational sex during the last year, and only 9 percent of them used a condom at last intercourse. Eighty percent of these men perceived no HIV risk from their behavior. Mexican women are at risk for HIV infection because they often are unable to negotiate condom use. In Mexican culture, machismo and traditional values, in which women are subservient to the men in their lives, places women in inferior positions in society. According to published research by Olivarrieta and Sotelo (1996) and others, the prevalence of domestic violence in Mexico varies between 30 and 60 percent. In this context, requesting condom use with a stable partner is perceived as a sign of infidelity and asking to use a condom can result in domestic violence.[2]
### Urban Concentration[edit]
HIV infection in Mexico is concentrated in urban areas, where more than 77 percent of the population lives. Most HIV prevention programs focus on urban populations, though there are efforts to reach out to rural, mobile, and indigenous populations.
### Tuberculosis Co-infection[edit]
The potential for HIV-tuberculosis (TB) co-infection is also a concern in Mexico, as it is in other countries. Studies have shown TB to be the second most frequent infection in AIDS patients in Mexico. It is more prevalent in urban centers among IDUs and individuals of lower socioeconomic status. According to the World Health Organization (WHO), the incidence of TB is 10 per 100,000 and 1.1 percent of adults newly diagnosed with TB were found to be HIV-positive in 2006.[2] Tuberculosis co-infection is known to be the leading killer of all AIDS-related diseases in the world. (cite) Both tuberculosis and HIV suppress the immune system in complex ways that are still not completely known to the medical community. When the two infect the body together, oftentimes the infections will exacerbate each other, making treatment more complicated.
## Border Cities[edit]
### Commercial Sex Workers[edit]
According to studies, the prevalence of HIV among female sex workers (FSWs) in Mexican border cities has increased within the last decade. In a study conducted in Tijuana and Ciudad Juarez, 55 out of 924, 6%, female sex workers tested positive for HIV. The average age of the FSWs was 32, only about 19% spoke English, and the majority of them had little to no education.[3] Among female sex workers in border cities, exposure to and use of intravenous drugs with clients greatly increases risk of HIV infection. "FSWs who used stimulants had greater odds of HIV infection, even if they did not inject. Injection drug use and sex work have been shown to overlap considerably in various settings".[3]
### IDUs[edit]
Mexico's border cities account for the majority of intravenous drugs, methamphetamine and heroine, that are trafficked into the United States. Much of the cities, economy is an informal one, made up of different groups, all contributing to the drug trade. These groups include, gangs, drug dealers, corrupt police, corrupt government officials, immigrants who traffic the drugs across the border on foot, and sex workers, who by way of their clients, are indirectly involved. As a result of this informal economy dominating the cities and corrupting municipal processes, rates of intravenous drug usage is atypically high. The urban poor in Mexico is often exacerbated due to high unemployment rates and lack of stability in government resources. Involvement in the informal economy is oftentimes unavoidable for many, especially those who are impoverished. In border cities, a great majority of the urban poor is made up of men and women who were living in the United States in an undocumented state and have since been deported, sometimes multiple times, and are ostracized from their families and jobs in the United States. Many of these deportees were forced to leave the United States with little notice, without any money or belongings, and no resources or plans to rely on when they are displaced back into Mexico. As a result, many of these deportees are forced to find work wherever possible, without any resources or aid from the United States or Mexican government. Many are forced to resort to commercial sex work or drug trafficking, therefore, increasing the high risk populations that exist.
## Discrimination[edit]
Another challenge Mexico currently faces is unequal access to quality care and the need to train health workers and clinics in using antiretroviral treatment (ART).[2]The spread of HIV/AIDS in Mexico is exacerbated by stigma and discrimination (S&D), which act as a barrier to prevention, testing, and treatment. The 2001 UNGASS declaration stated that "stigma, silence, discrimination and denial, together with lack of confidentiality, weaken the prevention efforts, care and treatment." S&D occur within families, health services, the police, and the workplace. A study conducted by Infante-Xibille in 2004 of 373 health care providers in three states in Mexico described discrimination within health services. HIV testing was conducted only with perceived high-risk groups, often without informed consent. Patients with AIDS were often isolated. A 2005 five-city participatory community assessment by Colectivo Sol, a nongovernmental organization (NGO), found that some HIV hospital patients had a sign over their beds stating they were HIV-positive. There was also discrimination in the workplace. In León, Guanajuato, researchers found that seven out of 10 people in the study had lost their jobs because of their HIV status. The same study also documented evidence of discrimination that MSM experienced within their families.[2]
## National response[edit]
### Condonetas[edit]
In response to the fact that less than 46% of men who have sex with men and less than 41% of intravenous drug users in Tijuana having reported taking an HIV test,[2] the Federal Ministry of Health, implemented an outreach program known as condonetas in several cities to improve prevention tactics. Condonetasare mobile clinics, or vans, that drive around and hand out various resources to high risk communities to educate individuals about their risks and directly give them assistance. Condonetas are equipped with fast response HIV tests, condoms, clean needles, alcohol wipes, and bottles of bleach to clean the needles if they are going to be shared. These mobile clinics are brightly decorated, adorned with cartoon condoms, and loud speakers. In essence, condonetas are attempting to go against the conservatism of Mexican societal norms and bring sex education to the people instead of allowing them to remain uninformed and at risk. "Health officials say this year in Tijuana alone, the condonetas will hand out more than one-million condoms, and more than 50,000 clean syringes."[4]
### Government Recognition[edit]
Mexico has a national policy on HIV/AIDS treatment and has made notable gains in providing access to ART for the infected population. Since 2003, Mexico has been providing universal access to ART through the national health system. Although the WHO/UNAIDS/UNICEF report Towards Universal Access states that 76 percent of HIV-infected people who needed it were receiving ART in December 2006, the government indicates that everyone identified with advanced disease is receiving treatment. Mexico was also successful in securing the blood supply early on, and no cases of HIV have been detected recently through this mode of transmission. CENSIDA has been active since 1988 and collaborates with other government entities as well as with NGOs, including organizations of persons living with HIV/AIDS. This collaboration is a significant asset in the national response to HIV/AIDS, because a coordinated response between government and civil society has proven to be more effective than government entities acting alone.[5]
Mexico established a national network of HIV/AIDS ambulatory health care facilities known as Centros Ambulatorios Para la Prevencion y Atencion en SIDA e ITS (CAPASITS). The CAPASITS are the result of collaboration among local governments, the national government, and NGOs and provide comprehensive community-based attention and treatment free of charge to people with HIV.[5]
In a landmark decision in February 2007, the Supreme Court ruled that it was unconstitutional for the military to discharge 11 HIV-positive soldiers and deny them access to military health services. The court ruled that being HIV-positive does not in itself imply an inability to serve in the armed forces and that the military must decide on a case-by-case basis whether or not a soldier can remain in active service. The ruling establishes a precedent allowing dismissed soldiers to seek redress in federal appeals court.[5]
## See also[edit]
* HIV/AIDS in North America
## References[edit]
1. ^ a b c "Mexico". UNAIDS. Retrieved 7 November 2017.
2. ^ a b c Strathdee, Steffanie (2008). "Mexico's Evolving HIV Epidemic". JAMA. 300 (5): 571–573. doi:10.1001/jama.300.5.571. PMC 2717701. PMID 18677029.
3. ^ a b Patterson, Thomas (1 March 2008). "Prevalence and Correlates of HIV Infection among Female Sex Workers in 2 Mexico—US Border Cities". The Journal of Infectious Diseases. 197 (5): 728–32. doi:10.1086/527379. PMC 2872174. PMID 18260766.
4. ^ Goldberg, Kenny. "Mexico Hoping to Drive Down HIV/AIDS with Prevention Program". Retrieved 15 December 2017.
5. ^ a b c "Health Profile: Mexico" Archived 2009-09-10 at the Wayback Machine. United States Agency for International Development (June 2008). Accessed September 7, 2008. This article incorporates text from this source, which is in the public domain.
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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
|
HIV/AIDS in Mexico
|
None
| 7,642 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Mexico
| 2021-01-18T19:00:32 |
{"wikidata": ["Q265760"]}
|
Estradiol levels during the menstrual cycle.[1]
Catamenial epilepsy is a form of epilepsy in women where seizures are exacerbated during certain phases of the menstrual cycle. Seizures may rarely occur only during certain parts of the cycle, but are more commonly only more frequent. Catamenial epilepsy is underlain by hormonal fluctuations of the menstrual cycle where estrogens promote seizures and progesterone counteracts seizure activity.[2]
Since at least the Greek times, there has been documented studies of women with epilepsy and its correlation to the menstrual cycle.[3] These patterns can easily be seen by charting out menses against seizure occurrence and type.[citation needed]
## Contents
* 1 Pathophysiology
* 1.1 Estrogen (estradiol, estrone, estriol)
* 1.2 Progesterone
* 2 Classification
* 2.1 Perimenstrual “C1”
* 2.2 Periovulatory “C2”
* 2.3 Luteal “C3”
* 3 Menopause
* 3.1 Hormone replacement therapy
* 4 Treatment
* 5 References
## Pathophysiology[edit]
Conversion of testosterone to estradiol
Aromatase converts androstenedione to estrone
Progesterone
Our understanding of the major gonadal hormones, estrogen, progesterone, and testosterone, has significantly increased in the last century. These hormones are synthesized in various locations in the body, including the ovaries, adrenal gland, liver, subcutaneous fat, and brain.[4] There is considerable research showing that these steroidal hormones take part in an important role in the pathophysiology of epilepsy. Broadly defined, estrogen and its many forms are thought to be “proconvulsant,” whereas progesterone is thought to be “anticonvulsant” by virtue of its conversion to the neurosteroid allopregnanolone.[5]
### Estrogen (estradiol, estrone, estriol)[edit]
Estrogen can be found in the female body in various forms, all of which affect women with catamenial epilepsy. Estrone (E1), estradiol (E2), and estriol (E3) are the three principal circulating estrogens in the body. These three forms influence neuronal excitability, but very little is known about their inter-hormone interactions, the relative concentrations and ratios of E1/E2/E3 and how that may influence the seizure frequency behavior in women with epilepsy. In normally menstruating women, serum estradiol levels are typically present by day 10 of the menstrual cycle, and persist until ovulation.
* Estrone’s main source is adipose tissue (subcutaneous fat), where it is formed by aromatization of androstenedione. Estrone is the major estrogen after menopause, and this hormone may be very influential in seizure control of the catamenial woman if she is severely overweight or obese.
* Estradiol represents the most prolific estrogen ligand receptor in the female body, particularly in non-pregnant females, and is a more effective activator of estrogen receptor function than estrone or estriol. Estradiol directly increases NMDA mediated receptors of glutamate activity at the neuronal membrane. Through this mechanism hippocampal pyramidal neurons CA1 are excited, and a repetitive firing response is induced.[6] Dendritic spine density on CA1 hippocampal pyramidal cells is dependent upon estradiol levels, showing a direct correlation during normal fluctuations during the menstrual cycle. Estradiol has been shown to apply its effects on dendritic spine density of hippocampal cells by using a mechanism that requires activation of NMDA receptors.[7] Furthermore, Herzog postulates that, “estradiol may thus further increase excitatory input to the CA1 neurons.” [8] Through many animal models, as well as human-use of estrogen-based hormone replacement therapy, estrogens have been seen to increase the excitability of neurons, leading to a decreased seizure threshold. In female adult rat experimental trials, the limbic seizure threshold fluctuates inversely to estradiol levels during the estrous cycle.
* Estriol is known to inhibit GABA and to promote kindling and epileptiform discharges.[9] Estriol is only produced in significant quantities during pregnancy via placental aromatization of fetal androgen, however it can also be synthesized in smaller quantities (non-pregnancy) in the liver by hydroxylation of estrone.
### Progesterone[edit]
Progesterone levels during the menstrual cycle.[1]
Similar to estrogen, progesterone receptors bind several molecules other than only progesterone. Progestogens are group of natural non-synthetic hormones, including progesterone, which binds to progesterone receptors. Other than progesterone, progestogens have several neuroactive metabolites, most notably allopregnanolone. Progesterone has been shown to lower the number of estrogen receptors, and thus act as an antagonist to estrogen actions.[10] In trials, both progesterone and allopregnanolone administration have shown a neuroprotective effect on hippocampal neurons in seizure models induced by kainic acid.[11]
## Classification[edit]
The proper classification for catamenial epilepsy has been debatable for several decades. Researchers have defined catamenial epilepsy from the broadest definition of a “greater than” approach indicating an increase in seizure frequency or severity during any specific phase of the menstrual cycle, to a “sixfold increase” in average daily seizure frequency during specific times in the cycle.[12] In recent years, Herzog's 1997 proposal of an admittedly arbitrary “twofold” increase has generally been accepted: Perimenstrual (C1), Periovulatory (C2), and Luteal (C3).[13] These three classifications are based upon serum estradiol:progesterone ratio, and a 24- to 34-day menstrual cycle in which menses begins on day 1, and ovulation occurs 14 days prior to menstruation. By this measure, approximately one third of women with epilepsy would be classified under the designation of catamenial epilepsy.
### Perimenstrual “C1”[edit]
Perimenstrual classification (in normal cycles, days -3 to 3 of menstruation) is associated with a twofold or greater increase in average daily seizure occurrence during the menstrual phase (M) compared to the follicular (F) and luteal (L) phases. The menstrual phase is characterized by drastic decreases in progesterone and estrogen levels. The estradiol:progesterone ratio is highest during the days before menstruation (C1) and ovulation (C2). Perimenstrual seizure exacerbation has been recognized as the withdrawal of the protective effects of progesterone. In a 2009 study, it was found that patients with C1 pattern of catamenial epilepsy had overall lower progesterone levels than healthy controls during the M phase.[14]
### Periovulatory “C2”[edit]
Periovulatory classification (in normal cycles, days 10 to -13) is associated with a twofold or greater increase in average daily seizure occurrence during the O phase compared to the F and L phases. The ovulatory phase is characterized by a surge of estrogen before ovulation, while an associated progesterone surge does not occur until ovulation actually occurs. This estrogen effect, without a corresponding progesterone surge of protection, intensifies seizure events.
### Luteal “C3”[edit]
Luteal classification (abnormal or inadequate luteal phase cycles, days 10 to 3) is associated with a twofold or greater increase in average daily seizure occurrence during the O, L and M phases. Anovulatory females do not typically have a midcycle surge of progesterone, but still experience a surge in estrogen. These women have abnormally low progesterone levels during the O, L and M, regardless of whether ovulation occurs. In study by El-Khayat et al., it was found that patients with C3 pattern of catamenial epilepsy had overall lower progesterone levels than healthy controls during the L phase of the menstrual cycle.[14]
## Menopause[edit]
During menopause, there are drastic changes in the production of gonadal hormones. Most of the reproductive hormones, including the estrogens, progesterone and testosterone, diminish initially (perimenopause), becoming irregular, often showing wide and unpredictable fluctuations. As menopause progresses, there is cessation of estrogen production by the ovaries. Rosciszewska was one of the first researchers to report an increased risk of seizures during perimenopause, but found a marked decreased risk of seizures during menopause if there was a catamenial relationship.[15] This difference may be associated with the radical fluctuations of estradiol and progesterone during the perimenopausal period than what is experienced during the menopausal period and menstrual cycles of reproductive years. Recall that estrone is the predominant estrogen present during menopause (from subcutaneous fat), and little is known about the effect of estrone specifically on epilepsy. Women with epilepsy who do not follow a catamenial pattern may have an unpredictable increase or decrease in seizure activity in perimenopause and menopause, but women with catamenial epilepsy typically follow a more predictable pattern.[16]
### Hormone replacement therapy[edit]
The use of hormone replacement therapy (HRT), to lessen the effects of menopause, has shown severe negative effects on the seizure patterns of women with catamenial epilepsy. During perimenopause, women with catamenial epilepsy generally experience an increase in seizure frequency, and HRT use does not change this likelihood. However HRT use after perimenopause has been significantly associated with an increase in seizure frequency and severity. Women progressing through peri- and post-menopause using HRT may be in greater need of anticonvulsant medication monitoring to maintain or reduce seizure occurrence. These same results have not been seen in laboratory counterparts. Adult female rats that have been ovariectomized, a parallel state to menopause, show increased seizure frequency overall. There are, however, several factors that could explain this difference, including ovariectomized rats do not have the analogous brain hormones milieu as menopausal women. Several studies following HRT use in women with catamenial epilepsy have demonstrated more influencable data than animal models, in this case.[17]
## Treatment[edit]
Several treatment methods have been determined exclusively for women with catamenial epilepsy. A great majority of these therapies include progestogens (naturally occurring) or progestins (synthetic progestogen). Drug interactions are an important factor when using progesterone therapy, as many antiseizure medications augment hepatic metabolism of gonadal steroids, and increase serum protein binding to hormones. There are many unfortunate side effects frequently seen in progesterone therapy usage, including vaginal dryness, dyspareunia, osteoporosis, and cardiovascular disease.[8]
* Cyclic progesterone therapy supplements the patient with natural progesterone during the luteal phase when progesterone is normally low, and gradually reduces the supplementation premenstrually.
* Suppressive progestin therapy intends to suppress the menstrual cycle entirely by using injectable progestins or gonadotropin-releasing hormones (GnRH). GnRH basically mimics an ovary-free environment in the female, which is characteristic of the lack of menstrual cycle during menopause.
A 2019 Cochrane review found low certainty evidence of no treatment difference between norethisterone and placebo and moderate to low certainty of the no difference with progesterone versus placebo. The review did note however that important clinical effects could not be ruled out due to the small and under powered nature of the studies reviewed.[18]
## References[edit]
1. ^ a b Häggström, Mikael (2014). "Reference ranges for estradiol, progesterone, luteinizing hormone and follicle-stimulating hormone during the menstrual cycle". WikiJournal of Medicine. 1 (1). doi:10.15347/wjm/2014.001. ISSN 2002-4436.
2. ^ "Catamenial Epilepsy". Epilepsy Foundation. Retrieved 2019-08-30.
3. ^ Temkin, Owsei (March 1, 1994) [First published 1945, Revised 1971]. The Falling Sickness (2nd Revised ed.). Baltimore: Johns Hopkins University Press. ISBN 978-0-8018-4849-0.
4. ^ Scharfman HE, MacLusky NJ (September 2006). "The Influence of Gonadal Hormones on Neuronal Excitability, Seizures, and Epilepsy in the Female". Epilepsia. 47 (9): 1423–40. doi:10.1111/j.1528-1167.2006.00672.x. PMC 1924802. PMID 16981857.
5. ^ Reddy DS, Rogawski MA. Neurosteroids — Endogenous Regulators of Seizure Susceptibility and Role in the Treatment of Epilepsy (2012). In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US). Available from https://www.ncbi.nlm.nih.gov/books/NBK98218/
6. ^ Wong M, Moss RL (1992). "Long-term and short-term electrophysiological effects of estrogen on the synaptic properties of hippocampal CA1 neurons". J Neurosci. 12 (8): 3217–25. doi:10.1523/JNEUROSCI.12-08-03217.1992. PMC 6575649. PMID 1353794.
7. ^ Woolley CS, McEwen BS (1994). "Estradiol regulates hippocampal dendritic spine density via an N-methyl-D-aspartate receptor-dependent mechanism". J Neurosci. 14 (12): 7680–7. doi:10.1523/JNEUROSCI.14-12-07680.1994. PMC 6576901. PMID 7996203.
8. ^ a b Herzog AG (2008). "Catamenial epilepsy: Definition, prevalence, pathophysiology and treatment". Seizure. 17 (2): 151–9. doi:10.1016/j.seizure.2007.11.014. PMID 18164632.
9. ^ Ahmad A, Vohora D (2014). "Proconvulsant effects of estriol, the third estrogen, in the mouse PTZ-kindling model". Neurol. Sci. 35 (10): 1561–6. doi:10.1007/s10072-014-1795-4. PMID 24748480.
10. ^ Hsueh AJ, Peck EJ, Clark JH (1976). "Control of uterine estrogen receptor levels by progesterone". Endocrinology. 98 (2): 438–44. doi:10.1210/endo-98-2-438. PMID 174899.
11. ^ Frye CA (1995). "The neurosteroid 3 alpha, 5 apha-THP has antiseizure and possible neuroprotective effects in an animal model of epilepsy". Seizure. 696 (1–2): 113–20. doi:10.1016/0006-8993(95)00793-p. PMID 8574658.
12. ^ Duncan S, Read CL, Brodie MJ (1993). "How common is catamenial epilepsy?". Epilepsia. 34 (5): 827–31. doi:10.1111/j.1528-1157.1993.tb02097.x. PMID 8404732.
13. ^ Herzog AG, Klein P (1997). "Three patterns of catamenial epilepsy". Epilepsia. 38 (10): 1082–8. doi:10.1111/j.1528-1157.1997.tb01197.x. PMID 9579954.
14. ^ a b El-Khayat HA, Soliman NA, Tomoum HY, Omran MA, El-Wakad AS, Shatla RH (2008). "Reproductive hormonal changes and catamenial pattern in adolescent females with epilepsy". Epilepsia. 49 (9): 1619–26. doi:10.1111/j.1528-1167.2008.01622.x. PMID 18435756.
15. ^ Rościszewska D (1978). "Menopause in women and its effects on epilepsy". Neurol Neurochir Pol. 12 (3): 315–19. PMID 355909.
16. ^ Røste LS, Taubøll E, Svalheim S, Gjerstad L (2008). "Does menopause affect the epilepsy?". Epilepsia. 17 (2): 172–5. doi:10.1016/j.seizure.2007.11.019. PMID 18164217.
17. ^ Harden CL (2008). "Hormone Replacement Therapy: Will it affect seizure control and AED levels?". Seizure. 17 (2): 176–80. doi:10.1016/j.seizure.2007.11.026. PMC 2288738. PMID 18187348.
18. ^ Maguire, Melissa J.; Nevitt, Sarah J. (2019-10-14). "Treatments for seizures in catamenial (menstrual-related) epilepsy". The Cochrane Database of Systematic Reviews. 10: CD013225. doi:10.1002/14651858.CD013225.pub2. ISSN 1469-493X. PMC 6953347. PMID 31608992.
*[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
|
Catamenial epilepsy
|
c0393718
| 7,643 |
wikipedia
|
https://en.wikipedia.org/wiki/Catamenial_epilepsy
| 2021-01-18T18:48:03 |
{"umls": ["C0393718"], "wikidata": ["Q771950"]}
|
Birth of a monstrosly defective child
A monstrous birth, variously defined in history, is a birth in which a defect of some sort renders the animal or human child monstrous. Such births were often taken as omens, signs of God, or moral warnings, but besides these supernatural or religious explanations, medical explanations were also given, in which often the mother's state of mind or her sexual behavior was responsible for the deformed fetus. In early and medieval Christianity, monstrous births posed difficult theological problems about humanity and salvation; in the early modern period, the interest shifted toward scientific inquiry.
## Contents
* 1 Overview
* 1.1 Medieval explanations
* 1.2 Early modern explanations
* 2 Animal births
* 2.1 Luther's mooncalf
* 3 Human births
* 4 See also
* 5 References
## Overview[edit]
Monstrous births and omens in the Nuremberg Chronicle.
An early reference to monstrous birth is found in the apocryphal biblical text 2 Esdras, where it is linked to menstruation: "women in their uncleanness will bear monsters."[1] Monstrous births are often placed in a religious context and interpreted as signs and symbols, as is evidenced in the 1493 Nuremberg Chronicle. According to David Hume's "The Natural History of Religion", they are among the first signs that arouse the barbarian's interest.[2] Monstrous human births raise the question of the difference between humans and animals, and anthropologists have described different interpretations of and behaviors toward such births. Among the East African Nuer people, monstrous births are acted on in a way that restores the division between the categories of human and animal: "the Nuer treat monstrous births as baby hippopotamuses, accidentally born to humans, and, with this labelling, the appropriate action is clear. They gently lay them in the river where they belong."[3]
Whether monstrous births were natural, unnatural, or supernatural remained a topic of discussion. Saint Augustine held that nothing "done by the will of God could be contrary to nature," whereas Thomas Aquinas considered some miracles to be against nature.[4]
### Medieval explanations[edit]
Reasons for monstrous births given in early medieval penitentials (concerned with sexual sin) and thirteenth-century medical texts (concerned with physical purity) include pollution through menses and intercourse during menstruation.[5] Such explanations are found in many medieval literary texts, including Jean Maillart's fourteenth-century Roman du Comte Anjou and Geoffrey Chaucer's "Man of Law's Tale."[6]
### Early modern explanations[edit]
Sixteenth- and seventeenth-century medical texts, which treat pregnancy as a disease,[7] suggest that monstrous births may be the result of the mother's sickness or distress, and they continue the myth of (bestial) intercourse during pregnancy as a cause.[8] The mother's role is of the greatest importance, and what was presupposed was the possibility of an emotional transference from mother to fetus, referred to as the "theory of the maternal imagination":
> According to most of the authors of the sixteenth through early eighteenth centuries, an expectant mother's cravings, desires, and experiences--especially experiences that aroused strong passions such as fear and lust--were capable of directly inscribing themselves upon the body of the fetus, producing deformities and monstrosities that retained the semantic content of the original impression.[8]
At the same time, an epistemological shift was taking place, and monstrous births changed from "signs to facts." Such births were now often publicized in pamphlets and broadsides and became the subject of scientific investigation; the early sixteenth century produced an "apparent upsurge of interest in monstrous births."[9]
## Animal births[edit]
A two-headed cow.
Monstrous animal births often figure in times of religious upheaval. Many occurred in the Europe of the Reformation: the advent of Luther was supposedly announced by the 1522 birth of a monstrous calf (a mooncalf) in Saxony,[10] and the accession of Elizabeth I of England was supposedly indicated by monstrous births as well, as a warning to "Catholics and other sinners."[11]
### Luther's mooncalf[edit]
A misshapen calf, born in Freiberg, Saxony, on 8 December 1522, quickly became important in the German Reformation. It was born with oddly shaped legs (its hind legs straight as a human's) and with a fold of skin over its head shaped like a cowl—hence its comparison to a monk. An illustration made its way to a Prague astrologer, who "discovered that the monster did indeed signify something terrible, indeed the most awful thing possible--Martin Luther."[10] Luther himself responded quickly with a pamphlet containing a mock exegesis of the creature, Monk Calf, in which the "Monk Calf" stands, in all its monstrosity, for the Catholic church.[12] Luther's anti-papist pamphlet appeared together with a tract by Philipp Melanchthon[13] which discussed a fictional monster, the Pope-Ass, a hybrid between a man and a donkey supposedly found near Rome after the 1496 flood.[14] Circulated in 1523, Martin Luther and Philipp Melanchthon's pamphlet was titled The Meaning of Two Horrific Figures, the Papal Ass at Rome and the Monk Calf Found at Freyberg in Meissen.[15] Luca Cranach the Elder and his workshop provided the illustrations of the Papal Ass and the Monk Calf for the pamphlet. Variations of Luther and Melanchthon’s pamphlet eventually were circulated, including one that depicted the Papal Ass and the Monk Calf in “an encounter between the two creatures. This opening page adds a new phrase to the title of the book: ‘with signs of the Day of Judgement.'"[16]
## Human births[edit]
Sixteenth-century oil painting, Painting of a handicapped man.
Especially monstrous births among humans were, from the early Middle Ages on, seen as signifying God's interaction with the world: "a monstrous birth is the shape of wickedness, not only the result of original sin but of more local and immediate forms as well."[17] One of the best known examples of such births was the Monster of Ravenna.
Although the connections between a monstrous birth and improper maternal behavior were eventually dismissed by reliable authorities, a particularly late incident involving such allegations took place in the Massachusetts Bay Colony. Mary Dyer, later to become a Quaker martyr, gave birth to a deformed child in October 1637. Noted religious dissenter Anne Hutchinson, who was acquainted with the Dyer family and was present at that birth, was herself delivered of a "monster" in the next year. Both cases were publicized by John Winthrop, who was at the time bringing legal proceedings against both women for heresy.[18]
## See also[edit]
* Teratoma
* Parasitic twin
* Conjoined twins
## References[edit]
Notes
1. ^ Campbell 19.
2. ^ Buckle 371.
3. ^ From a description by Mary Douglas, qtd. in Cockburn 78.
4. ^ Bates 14.
5. ^ McCracken 63-64.
6. ^ McCracken 64.
7. ^ Kukla 11.
8. ^ a b Kukla 13.
9. ^ Bates 14-15.
10. ^ a b Smith 355.
11. ^ Crawford 38.
12. ^ Szabari 132-34.
13. ^ Crawford 27.
14. ^ Szabari 132.
15. ^ Soergel, Philip (2012). Miracles and the Protestant Imagination: The Evangelical Wonder Book in Reformation Germany. Oxford University Press. p. 49. ISBN 9780199844661.
16. ^ Spinks, Jennifer (2009). Monstrous Births and Visual Culture in Sixteenth-Century Germany. London: Routledge. p. 65.
17. ^ Crawford 15.
18. ^ Schutte 87-90.
Bibliography
* Bates, Alan W. (2005). Emblematic Monsters: Unnatural Conceptions and Deformed Births in Early Modern Europe. Clio Medica (Amsterdam, Netherlands). 77. Rodopi. pp. 3–334. ISBN 978-90-420-1862-4. PMID 16212737.
* Buckle, Henry Thomas (1861). History of Civilization in England. 2. D. Appleton.
* Campbell, Josie P. (1986). Popular culture in the Middle Ages. Bowling Green State UP. p. 19. ISBN 978-0-87972-339-2.
* Cockburn, Bruce (1991). Human Beings. Cambridge UP. ISBN 978-0-521-42245-1.
* Crawford, Julie (2005). Marvelous Protestantism: monstrous births in post-Reformation England. Johns Hopkins UP. ISBN 978-0-8018-8112-1.
* McCracken, Peggy (2003). "Menstruation and Monstrous Birth". The Curse of Eve, the Wound of the Hero: Blood, Gender, and Medieval Literature. U of Pennsylvania P. pp. 61–77. ISBN 978-0-8122-3713-9.
* Kukla, Rebecca (2005). Mass Hysteria: Medicine, Culture, and Mothers' Bodies. Rowman & Littlefield. ISBN 978-0-7425-3358-5.
* Schutte, Anne Jacobson (Spring 1985). "'Such Monstrous Births': A Neglected Aspect of the Antinomian Controversy". Renaissance Quarterly. 38 (1): 85–106. doi:10.2307/2861332. JSTOR 2861332. PMID 11611708.
* Smith, Preserved (1914). "The Mooncalf". Modern Philology. 11 (3): 355–61. doi:10.1086/386935. JSTOR 432806.
* Szabari, Antonia (2006). "The Scandal of Religion: Luther and Public Speech in the Reformation". In Hent de Vries and Lawrence Eugene Sullivan (ed.). Political Theologies: Public Religions in a Post-Secular World. Fordham UP. pp. 122–36. ISBN 978-0-8232-2645-0.
*[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
|
Monstrous birth
|
c2713367
| 7,644 |
wikipedia
|
https://en.wikipedia.org/wiki/Monstrous_birth
| 2021-01-18T18:45:40 |
{"mesh": ["D009008"], "umls": ["C2713367", "C0026505"], "wikidata": ["Q6902961"]}
|
17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.
## Epidemiology
The estimated incidence of this disease is 1 in 147 000 in The Netherlands.
## Clinical description
The 17betaHSD III enzyme catalyzes the conversion of androstenedione to testosterone in the testis. Lack of testosterone in the fetal testis leads to genetic males with female external genitalia. Patients usually present at birth with female or ambiguous external genitalia, characterized by clitoromegaly, posterior labioscrotal fusion and perineal blind vaginal pouch. Testes are inguinal or in the labioscrotal folds. The internal urogenital tract (epididymides, vasa deferentia, seminal vesicles, ejaculatory ducts) is well developed; prostate and Müllerian structures are absent. Although some patients with less severe defects are brought up as males, affected males are usually brought up as females. However, at puberty they develop signs of virilization (phallic enlargement, male secondary sexual characteristics) and gynecomastia as the result of increases in serum testosterone, due to the conversion of androstenedione to testosterone by extra-gonadal 17b-HSD isoenzymes. All affected individuals are infertile.
## Etiology
At least 20 mutations have been reported in the 17-beta-HSD type 3 isozyme gene (HSD17B3), localized to 9q22. These are mainly missense/nonsense mutations, without significant genotypic/phenotypic correlation.
## Diagnostic methods
Baseline and post-hCG (human chorionic gonadotropin) stimulation hormonal evaluation demonstrates increased androstenedione and low testosterone levels, with an elevated androstenedione/testosterone ratio. Before puberty, a hCG stimulation test is often necessary for diagnosis, since basal levels may be uninformative. Deficiency of 17-ketosteroid reductase is often misdiagnosed in infancy and detected at puberty in genetic males who have been either raised as females and develop hirsutism and primary amenorrhoea, or raised as males and have gynecomastia and incomplete male genital development.
## Antenatal diagnosis
Prenatal diagnosis is available for the kindred of affected patients if causal mutations have been characterized.
## Genetic counseling
The disorder is transmitted as an autosomal recessive trait.
## Management and treatment
If the diagnosis is made at birth, gender assignment must be discussed, depending on the expected results of masculinizing genitoplasty. If female assignment is selected, feminizing genitoplasty and gonadectomy must be performed.
*[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
|
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
|
c0268296
| 7,645 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=752
| 2021-01-23T19:10:17 |
{"gard": ["5659"], "mesh": ["C537805"], "omim": ["264300"], "umls": ["C0268296"], "icd-10": ["E29.1"], "synonyms": ["17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17-ketoreductase deficiency", "17-ketosteroidreductase deficiency"]}
|
Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
## Epidemiology
The syndrome has been described in a single Greek Cypriot family, over three generations. There have been no further descriptions in the literature since 1992.
## Clinical description
Affected individuals have a striking facial appearance (described as Mephistophelian) and variable skeletal deformities and neuromuscular abnormalities. The facial appearance consists of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, elevation of the medial portion of the eyebrows bilaterally, hypertelorism, low-set ears, posteriorly rotated ears and widow's peak. Musculoskeletal features may coexist and include congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus and arthrogryposis. Neurological and musculoskeletal defects are severe and incapacitating in some affected family members, while all have normal intelligence. Other manifestations include restricted joint stiffness, ankyloses, ptosis, and cataracts.
## Etiology
The cause of this syndrome is not known.
## Genetic counseling
This condition is likely to be autosomal dominant.
*[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
|
Cyprus facial-neuromusculoskeletal syndrome
|
c1852396
| 7,646 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2674
| 2021-01-23T16:54:30 |
{"gard": ["9487"], "mesh": ["C536229"], "omim": ["123853"], "umls": ["C1852396"], "icd-10": ["Q87.8"]}
|
## Description
Chronic mountain sickness (CMS), or Monge disease, represents a state of maladaptation to high-altitude hypoxia in a member of a population acclimatized to high altitudes. CMS is characterized by severe polycythemia and an array of neurologic symptoms, including headache, fatigue, somnolence, and depression. Often, people with CMS suffer from strokes and myocardial infarctions in early adulthood because of increased blood viscosity. Studies have shown that CMS is common in Andeans, found occasionally in Tibetans, and absent from the Ethiopian population living on the East African high-altitude plateau (summary by Zhou et al., 2013). Acute mountain sickness (see pulmonary edema of mountaineers, 178400) is experienced by unacclimatized travelers exposed to high altitude.
Molecular Genetics
Zhou et al. (2013) sequenced and compared whole genomes of 20 Andean subjects (10 with CMS and 10 without). The authors identified 11 regions genomewide with significant differences in haplotype frequencies, consistent with selective sweeps. In these regions, 2 genes on 12q13, an erythropoiesis regulator (SENP1; 612157) and an oncogene (ANP32D; 606878), had a higher transcriptional response to hypoxia in individuals with CMS relative to those without, as measured in fibroblasts exposed to hypoxic conditions for 24 hours. Zhou et al. (2013) further found that downregulating the orthologs of these genes in flies dramatically enhanced survival rates under hypoxia, demonstrating that suppression of SENP1 and ANP32D plays an essential role in hypoxia tolerance. Zhou et al. (2013) concluded that their study provided an unbiased framework to identify and validate the genetic basis of adaptation to high altitudes and identified potentially targetable mechanisms for CMS treatment.
Pathogenesis
Azad et al. (2016) reprogrammed fibroblasts from CMS and non-CMS individuals living at high altitude in Peru, as well as sea level-dwelling Peruvian controls, and generated induced pluripotent stem cells that were then transformed into erythroid cells. Following exposure of the cells at the embryoid body stage to 5% O2 for 28 days, sea-level controls had a modest (5-fold) increase in expression of the erythroid marker CD235A (GYPA; 617922) and non-CMS individuals had no change in CD235A expression, whereas CMS subjects had a marked (over 50-fold) change in CD235A expression, suggesting a genetically controlled polycythemic response to hypoxia. Knockdown of SENP1 resulted in a marked reduction in CD235A expression in the response of CMS cells to hypoxia. Overexpressing SENP1 in non-CMS cells resulted in a polycythemic phenotype. Expression of BCLXL (BCL2L1; 600039) and, particularly, GATA1 (305371) increased significantly in CMS cells undergoing hypoxia. Sumoylation of GATA1 in CMS cells was much lower than in non-CMS cells. Azad et al. (2016) concluded that GATA1 activation mediated by SENP1 desumoylation is essential for the polycythemic response in CMS. Furthermore, they concluded that the differential expression and responses of GATA1, an essential downstream target of SENP1, and BCLXL are key mechanisms underlying CMS pathology.
*[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
|
CHRONIC MOUNTAIN SICKNESS, SUSCEPTIBILITY TO
|
c0274294
| 7,647 |
omim
|
https://www.omim.org/entry/616182
| 2019-09-22T15:49:43 |
{"omim": ["616182"], "synonyms": ["Alternative titles", "MONGE DISEASE"]}
|
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-68 (EIEE68) is caused by homozygous mutation in the TRAK1 gene (608112) on chromosome 3p25.
Description
EIEE68 is an autosomal recessive disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by Barel et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clinical Features
Barel et al. (2017) reported 6 patients from 3 unrelated consanguineous families of Arab descent with a severe fatal encephalopathic seizure disorder. The patients presented between 1 and 19 months of age with acute onset of neurologic dysfunction manifest as perioral twitching and multifocal myoclonic jerks that progressed to generalized tonic-clonic seizures unresponsive to multiple treatment regimens. The episodes were episodic, but progressive, and often resulted in status epilepticus with loss of developmental skills. Additional features included hypotonia, spasticity, clonic episodes, failure to thrive, and developmental delay. One patient was noted to have hyperekplexia and another had an exaggerated startle response. All but 1 became lethargic with further deterioration and died in the first years of life. The remaining patient was alert and had eye contact at age 4 years, but had no gross motor abilities and showed continuous facial twitching, tongue fasciculations, clonic arm movements consistent with epilepsia partialis continua, and severe limb spasticity with hyperreflexia and evolving joint contractures. EEG was often normal early in the disorder, but later showed various abnormalities, including multiple independent spike foci and polyspike wave activity. Brain imaging showed periventricular white matter abnormalities and cortical atrophy. Two patients from 1 family (family A) had concurrent CMV encephalitis, and brain biopsy in these children showed lymphocytic infiltrates, fibrillary gliosis, and microglia activation.
Anazi et al. (2017) reported 2 deceased infants from 2 unrelated consanguineous Arab families with EIEE68. One patient (16DG0971) presented soon after birth with respiratory distress and developed intractable focal seizures at age 6 months necessitating intubation. He had global developmental delay, small head, axial hypotonia, and generalized spasticity. Brain imaging showed generalized brain atrophy and areas of diffusion restriction, and EEG showed a generalized encephalopathic state and evidence of partial seizures. He died at age 10 months and reportedly had a brother who was similarly affected. The second proband (17DG0780) presented soon after birth with refractory convulsions and jerky movements. Clinical details were limited, but he had dysmorphic features and sluggish pupils, and brain imaging showed diffuse brain atrophy and delayed myelination. He died at 9 months of age. A sister was reportedly similarly affected; she died at age 16 months. The patients were ascertained from a cohort of 68 consanguineous families with intellectual disability.
Sagie et al. (2018) reported 2 sibs, born of unrelated parents of Ashkenazi Jewish origin, who presented in the first days of life with hypertonia, exaggerated startle response, and hyperekplexia. Motor development was delayed, but other early developmental aspects appeared normal. Following a febrile illness at ages 12 and 18 months, respectively, both patients developed tonic-clonic seizures progressing to fatal status epilepticus.
Inheritance
The transmission pattern of EIEE68 in the families reported by Barel et al. (2017) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 6 patients from 3 unrelated consanguineous Arab families with EIEE68, Barel et al. (2017) identified the same homozygous splice site mutation in the TRAK1 gene (608112.0001). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all 3 families. Patient cells had very little or no detectable expression of the mutant transcripts, consistent with nonsense-mediated mRNA decay, as well as severely reduced TRAK1 protein expression, consistent with a loss of function. Patient cells showed irregular patterns of mitochondrial scattering with abnormal subcellular localization, decreased mitochondrial motility, reduced mitochondrial membrane potential, and decreased oxygen consumption and respiration capacity compared to controls. Peroxisomal distribution and motility were similar to controls. Barel et al. (2017) noted that proper distribution of mitochondria in neurons and their axons is essential for high energy and calcium buffering during synaptic neurotransmission. The findings suggested that the TRAK1 mutation likely interfered with both mitochondrial motility and function. The mutation may also have disrupted GABA-A receptors, which could contribute to the neurologic phenotype, including spasticity.
In 2 unrelated deceased infants, born of consanguineous Arab parents, with EIEE68, Anazi et al. (2017) identified homozygous mutations in the TRAK1 gene (608112.0002 and 608112.0003). One mutation was predicted to result in a splice site alteration and the other in a frameshift and premature termination. Each of the patients reportedly had a similarly affected sib. The mutations, which were found by exome sequencing of 68 consanguineous families with intellectual disability, were confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed.
In 2 sibs, born of unrelated parents of Ashkenazi Jewish descent, with EIEE68, Sagie et al. (2018) identified a homozygous missense mutation in the TRAK1 gene (L329P; 608112.0004). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Coexpression of the wildtype or mutant TRAK1 proteins with the most abundant GABA-A receptor in Xenopus oocytes showed no difference in GABA-evoked responses.
Animal Model
Gilbert et al. (2006) showed that the mouse 'hypertonic' (hyrt) phenotype is due to a 20-bp deletion in the last exon of Trak1 (KIAA1042) that results in a frameshift after amino acid position 824. Given that the deletion disrupts only the final 12% of the protein, it may result in partial loss of function. Hyrt mutant mice have much lower levels of gamma-aminobutyric acid type A, or GABA-A, receptors in their CNS, particularly the lower motor neurons, than do wildtype mice, indicating that the hypertonicity of the mutants is likely to be caused by deficits in GABA-mediated motor neuron inhibition.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Small head circumference (in some patients) Face \- Perioral twitching RESPIRATORY \- Respiratory distress (in some patients) SKELETAL \- Contractures (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia, axial NEUROLOGIC Central Nervous System \- Myoclonus \- Twitching \- Hyperekplexia \- Jerky movements \- Seizures, refractory, multiple types \- Status epilepticus \- Clonus \- Developmental delay, mild, before onset of seizures \- Loss of developmental milestones \- Encephalopathy \- Spasticity \- Hyperreflexia \- Multifocal spikes seen on EEG \- Cortical atrophy MISCELLANEOUS \- Onset in first months or year of life \- Progressive disorder \- Early death may occur MOLECULAR BASIS \- Caused by mutation in the trafficking protein, kinesin-binding 1 gene (TRAK1, 608112.0001 ) ▲ 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
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
|
None
| 7,648 |
omim
|
https://www.omim.org/entry/618201
| 2019-09-22T15:43:06 |
{"omim": ["618201"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]}
|
A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.
## Epidemiology
Cogan syndrome (CS) prevalence is unknown. To date, approximately 300 cases have been reported. The disease is primarily described in causasians patients with no gender predilection.
## Clinical description
CS mainly affects young adults, with a median age at onset between 20 and 30 years, and occasionally affects children. The syndrome shows a large spectrum of clinical features. Non-syphilitic IK and cochleovestibular symptoms with unilateral or bilateral sensorineural hearing loss, vertigo and tinnitus are typical CS manifestations. The interval between the onset of ocular and audio-vestibular involvement is usually less than 2 years. CS presentation is considered atypical in presence of unusual ocular involvement (such as uveitis, chronic or recurrent conjunctivitis, scleritis, optic disc edema, and retinal vasculitis, with or without IK), audiovestibular symptoms that do not resemble Menière disease, or when the latency between the two organ involvement is more than 2 years A systemic disease expression is reported in at least 1/3 of the patients, especially in atypical cases, with general symptoms such as fever, headaches, weight loss, and/or in presence of signs of organ involvement, mostly cardiovascular (aortitis, aortic insufficiency, congestive heart failure, Raynaud's phenomenon), neurological (peripheral neuropathy, meningitis, hemiparesis or hemiplegia due to a cerebral vascular accident and aphasia due to a transient ischaemic event) and gastrointestinal systems (diarrhea, melena and abdominal pains).
## Etiology
CS is supposed to have an autoimmune etiology, and autoantibodies to inner ear antigens and corneal structures, such as the Cogan peptide are usually present, even if they cannot be considered specific CS serological biomarkers.
## Diagnostic methods
The diagnosis is mainly clinical of exclusion of infections (in primis syphilis and Lyme disease) on the good response to corticosteroid treatment. There are no confirmatory diagnostic tests, even if laboratory tests, audiogram, and imaging may be useful for supporting the diagnosis and excluding other potential etiologies.
## Differential diagnosis
Differential diagnoses include syphilis, Menière disease, Lyme disease, sarcoidosis, tuberculosis, polyarteritis nodosa, granulomatosis with polyangiitis and Takayasu arteritis.
## Management and treatment
Corticosteroids are the cornerstone of CS therapy. Topical glucocorticoids in association with cycloplegics may be considered for the management of isolated, mild eye involvement, while systemic corticosteroids should be considered for more severe eye involvement, hearing impairment, and systemic manifestations. Treatment with high doses of systemic corticosteroids (1-1.5 mg/kg of prednisone daily) are expected to prevent deafness, with a beneficial response usually within 2-3 weeks. However corticosteroids have proven to be of short-term benefit, and they carry a risk of serious side effects, therefore in patients with refractory or steroid-dependent disease, a second line treatment with immunosuppressants should be considered, although conventional immunosuppressive drugs such as methotrexate, cyclophosphamide, azathioprine, or cyclosporin A seem to have a limited efficacy. There are increasing reports of successful response to Infliximab, a tumor necrosis alpha (TNFalpha) blocker. Infliximab showed cochleovestibular symptoms improvement and allowed corticosteroid tapering, with a significantly difference when compared to patients treated with steroids alone or conventional DMARDs. The early use of infliximab as first line therapy in severe cases seems to be even more effective. Cochlear implantation is a valuable rescue surgical strategy in cases of severe sensorineural hearing loss unresponsive to intensive immunosuppressive regimens.
## Prognosis
The prognosis is mainly related to the risk of permanent deafness and cardiovascular complications, especially aortic insufficiency. Severe internal organ involvement and cardiovascular complications-related deaths are rare.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cogan syndrome
|
c0271270
| 7,649 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1467
| 2021-01-23T17:23:35 |
{"gard": ["1421"], "mesh": ["D055952"], "icd-10": ["H16.3"]}
|
A number sign (#) is used with this entry because immunodeficiency-20 (IMD20) is caused by homozygous mutation in the FCGR3A gene (146740) on chromosome 1q23.
Description
Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).
Clinical Features
Jawahar et al. (1996) reported a 5-year-old girl with a primary immunodeficiency. She originally presented in infancy with recurrent otitis media and sinusitis, as well as recurrent herpes viral infections. Circulating NK cells were decreased, and those in circulation expressed a mutant CD16 protein, as evidenced by antibody testing. Examination of NK cell function showed markedly decreased spontaneous cytotoxicity, but preserved antibody-dependent cellular cytotoxicity (ADCC). The number and function of other circulating immune cells was normal, indicating an isolated NK defect.
De Vries et al. (1996) reported a 3-year-old boy with recurrent viral respiratory tract infections since birth. The child had also had severe problems with BCG vaccination and with Epstein-Barr virus and varicella-zoster virus infections. Laboratory studied showed normal numbers of NK cells, and in vitro functional studies of the patient cells were normal. However, patient NK cells showed an unusual CD16 phenotype, and De Vries et al. (1996) postulated an in vivo dysfunction of NK cells.
Grier et al. (2012) reported a 14-year-old boy with recurrent lymph node EBV-driven Castleman disease beginning at age 10 years. He later developed papillomavirus of the hands and feet. Immunologic work-up showed no abnormalities; the percentage of circulating NK cells was within the normal range. Both patient NK cells and control NK cells were recognized by an anti-CD16 monoclonal antibody against the 3G8 epitope, indicating that the CD16 molecule was expressed. However, only control NK cells were recognized by a different anti-CD16 antibody that recognized the specific B73.1 epitope, suggesting a defect in CD16.
Biochemical Features
Grier et al. (2012) found that IMD20 patient NK cells exhibited deficient spontaneous cell cytotoxicity, but retained ADCC, suggesting that CD16 has a costimulatory role in NK cell cytotoxicity that is independent of IgG Fc binding/ADCC. Flow cytometric analysis of patient NK cells showed a significant decrease of CD2 (186990) expression on mature NK cells compared to controls. Similar flow cytometric results were observed in cells from the patient reported by Jawahar et al. (1996). Mechanistic studies in a human NK cell lines with and without CD16 expression showed that CD16 expression correlated with CD2 surface levels and enabled cytotoxic killing of a melanoma cell line. CD16 and CD2 associated at the immunologic synapse, which elicited CD16 signaling after CD2 engagement. The findings indicated that CD16 serves a role in NK cell mediated spontaneous cytotoxicity through an interaction with CD2 via the non-Fc-binding distal domain of CD16.
Inheritance
The transmission pattern of IMD20 in the family reported by Grier et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a 5-year-old girl with a primary immunodeficiency, Jawahar et al. (1996) identified a homozygous c.230T-A transversion in the FCGR3A gene, resulting in a leu66-to-his (L66H; 146740.0002) substitution in the first extracellular Ig-like domain of the FCGR3A protein. The unaffected mother was heterozygous for the mutation; DNA from the father was unavailable.
De Vries et al. (1996) identified homozygosity for the 230T-A mutation in the FCGR3A gene in a 3-year-old boy with recurrent viral respiratory tract infections since birth.
Grier et al. (2012) identified homozygosity for the L66H mutation in the FCGR3A gene in a boy with IMD20.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Sinusitis, recurrent Ears \- Otitis media, recurrent RESPIRATORY \- Recurrent respiratory infections IMMUNOLOGY \- Recurrent infections, particularly herpes viral \- Papillomavirus infection \- Lymphoproliferation \- Decreased or normal numbers of NK cells \- Defective NK function in spontaneous cellular cytotoxicity \- Antibody-dependent cellular cytotoxicity of NK cells is unaffected \- NK cells showed unusual surface CD16 antibody reactions MISCELLANEOUS \- Onset in early childhood MOLECULAR BASIS \- Caused by mutation in the receptor for the Fc fragment of IgG, low affinity IIIa (FCGR3A, 146740.0002 ) ▲ 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
|
IMMUNODEFICIENCY 20
|
c3810342
| 7,650 |
omim
|
https://www.omim.org/entry/615707
| 2019-09-22T15:51:19 |
{"omim": ["615707"], "orphanet": ["437552"], "synonyms": ["Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity", "CD16 deficiency"]}
|
Overview of obesity in New Zealand
According to 2007 statistics from the World Health Organization (WHO), New Zealand has the second-highest prevalence of overweight adults in the English-speaking world.
Obesity in New Zealand has become an important national health concern in recent years, with high numbers of people afflicted in every age and ethnic group.[1]
## Contents
* 1 Prevalence of obesity in New Zealand's population
* 1.1 New Zealand's adults
* 1.2 New Zealand's children
* 1.3 Māori, Asians, and Pacific Islanders
* 2 See also
* 3 References
## Prevalence of obesity in New Zealand's population[edit]
As of June 2008, 26.5% of New Zealanders are obese,[1] a number only surpassed in the English-speaking world by the United States.[1][2]
### New Zealand's adults[edit]
The New Zealand Ministry of Health Survey of 2016/17 found that 34% of adults (aged 15 and over) are overweight (BMI between 25.0 and 29.9),[3] with a further 1.2 million people (32%) being obese (BMI over 30.0), up from 29% in 2011/12.[4]
Out of a total estimated population of 4.3 million in 2008,[5] the Ministry's studies show that roughly 1.13 million New Zealand adults were overweight,[6] with an extra 826,000 obese.[6] The 2008 figures, which represent samples from 2006 and 2007, show that 25% of New Zealand adults are obese, a slight increase from 2002 and 2003 (24%) but a wide rise from 1997 (19%).[1]
Obesity is more prevalent in New Zealand females from age 5 until the age of 34, at which time the males overtake the females in terms of percentage.[1] After essentially coming in at a dead heat in the 55 to 64 bracket, female obesity becomes a higher risk for 65- to 74-year-olds than it does for males, only to switch odds again after 75.[1]
The 2017 study showed that adults in deprived areas are 1.5 times more likely to become obese than those in well-off areas.[3][4]
### New Zealand's children[edit]
As of 2017, 21% of children (aged 2–12) are overweight,[3] with a further 100,000 (12.3%) being obese.[4] The child obesity rate has not changed significantly since 2011/12 (when it was 10.7%), although it has increased since 2006/07 (8.4%).[4]
In 2004, over 30 percent of children in New Zealand were classified as overweight.[7] In the 2008 figures, 8.3% of children ages 5 to 14 in New Zealand were classified as obese.[1] While more numerous than the same demographic in Australia (between 5 and 6%),[8] the number of obese children actually declined from a record high of 9% set in 2002.[1] Starting in 2006, the government has worked to cut high-fat foods and high sugar drinks from school cafeterias, and also to curb advertising for junk food during daytime television hours, these moves are being credited with slowing the rate of obesity in New Zealand, especially among the young.[9]
The 2017 study showed that children in deprived areas are 2.5 times more likely to become obese than those in well-off areas.[3][4]
### Māori, Asians, and Pacific Islanders[edit]
In the 2008 report, adults of Māori and other Polynesian descent had a much higher rate of obesity than white New Zealanders.[1] The rate for the Pacific peoples were nearly triple the white average, while Māori reported nearly double the white rate. As of 2017, 50% of Māori adults, 18% of Māori children, 69% of Polynesian adults, and 29% of Polynesian children are obese.[3] In 2008, 65% of adult Pacific New Zealanders and 43% of adult Māori were obese, compared to 23% of white adults,[1] and 12% of Asian New Zealanders were obese. Out of all the ethnic groups surveyed, only the Asians reported a large increase in obesity from the 2002 statistics.[1]
## See also[edit]
* List of countries by body mass index
* Downsize Me!
## References[edit]
1. ^ a b c d e f g h i j k "Obesity - Social Report 2008". Ministry of Social Development. 1 June 2008. Retrieved 5 July 2009.
2. ^ Streib, Lauren (8 February 2007). "World's Fattest Countries". Forbes. Retrieved 12 February 2009.
3. ^ a b c d e "Obesity statistics". Ministry of Health. Archived from the original on 30 January 2018.
4. ^ a b c d e "Annual Update of Key Results 2016/17: New Zealand Health Survey". Ministry of Health. 14 December 2017. Retrieved 19 June 2018.
5. ^ "National Population Estimates: March 2009 quarter". Statistics New Zealand. 15 May 2008. Archived from the original on 23 May 2009. Retrieved 20 May 2009.
6. ^ a b "Question and Answer - Obesity". NZ Ministry of Health. 1 June 2008. Retrieved 5 July 2009.
7. ^ "New Zealand to adopt 'traffic light' anti-obesity campaign". The Canadian Press. 31 August 2007. Retrieved 5 July 2009.
8. ^ Mandy Biggs (5 October 2006). "Overweight and obesity in Australia". Parliament of Australia. Retrieved 5 July 2009.
9. ^ "New Zealand slashes obesity levels". Associated Press. 4 June 2008. Retrieved 5 July 2009.
* v
* t
* e
Obesity in Oceania
Sovereign states
* Australia
* Federated States of Micronesia
* Fiji
* Kiribati
* Marshall Islands
* Nauru
* New Zealand
* Palau
* Papua New Guinea
* Samoa
* Solomon Islands
* Tonga
* Tuvalu
* Vanuatu
Associated states
of New Zealand
* Cook Islands
* Niue
Dependencies
and other territories
* American Samoa
* Christmas Island
* Cocos (Keeling) Islands
* Easter Island
* French Polynesia
* Guam
* Hawaii
* New Caledonia
* Norfolk Island
* Northern Mariana Islands
* Pitcairn Islands
* Tokelau
* Wallis and Futuna
*[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
|
Obesity in New Zealand
|
None
| 7,651 |
wikipedia
|
https://en.wikipedia.org/wiki/Obesity_in_New_Zealand
| 2021-01-18T19:08:11 |
{"wikidata": ["Q7074861"]}
|
Abnormal depolarizations of cardiac myocytes
Afterdepolarizations are abnormal depolarizations of cardiac myocytes that interrupt phase 2, phase 3, or phase 4 of the cardiac action potential in the electrical conduction system of the heart. Afterdepolarizations may lead to cardiac arrhythmias.
## Early afterdepolarizations[edit]
Early afterdepolarizations (EADs) occur with abnormal depolarization during phase 2 or phase 3, and are caused by an increase in the frequency of abortive action potentials before normal repolarization is completed. Phase 2 may be interrupted due to augmented opening of calcium channels, while phase 3 interruptions are due to the opening of sodium channels. Early afterdepolarizations can result in torsades de pointes, tachycardia, and other arrhythmias.[1] EADs can be potentiated by hypokalemia and drugs that prolong the QT interval, including class Ia and III antiarrhythmic agents.
Afterhyperpolarizations can also occur in cortical pyramidal neurons. There, they typically follow an action potential and are mediated by voltage gated sodium or chloride channels. This phenomenon requires potassium channels to close quickly to limit repolarization. It is responsible for the difference between regular spiking and intrinsically bursting pyramidal neurons.[2]
## Delayed afterdepolarizations[edit]
Cellular mechanisms of early afterdepolarizations (EADs) and delayed afterdepolarizations (DADs).
Delayed afterdepolarizations (DADs) begin during phase 4, after repolarization is completed but before another action potential would normally occur via the normal conduction systems of the heart. They are due to elevated cytosolic calcium concentrations, classically seen with digoxin toxicity.[3][4] The overload of the sarcoplasmic reticulum may cause spontaneous Ca2+ release after repolarization, causing the released Ca2+ to exit the cell through the 3Na+/Ca2+-exchanger. This results in a net depolarizing current. The classical feature is Bidirectional ventricular tachycardia. Also seen in catecholaminergic polymorphic ventricular tachycardia (CPVT). Delayed afterdepolarization is also seen in myocardial infarction. Ischemic tissue is partially depolarized due to its high concentration of cations[citation needed]. Partially depolarized tissue fires rapidly resulting in delayed after depolarization.
## References[edit]
1. ^ Cranefield, PF: The Conduction of the Cardiac Impulse. New York, Future Publishing Co. 1975
2. ^ Nelson Spruston, "Pyramidal Neurons: dendritic structure and synaptic integration", 2008. Nature Reviews. Neuroscience.
3. ^ Katzung, B: Basic and Clinical Pharmacology (10th ed.), chapter 14: "Agents Used in Cardiac Arrhythmias", The McGraw-Hill Companies, 2007, ISBN 978-0-07-145153-6
4. ^ Lilly, L: "Pathophysiology of Heart Disease", chapter 11: "Mechanisms of Cardiac Arrhthmias", Lippencott, Williams and Wilkens, 2007
This article about a medical condition affecting the circulatory 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
|
Afterdepolarization
|
None
| 7,652 |
wikipedia
|
https://en.wikipedia.org/wiki/Afterdepolarization
| 2021-01-18T19:05:43 |
{"wikidata": ["Q2898697"]}
|
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
## Epidemiology
To date, 20 cases have been reported worldwide.
## Clinical description
The most consistent and pathognomic dental finding of OFCD is radiculomegaly (extremely long roots), particularly of the canines and occasionally of other teeth including premolars and incisors. The dental eruption in both the deciduous and the permanent dentition is consistently slow and delayed. Oligodontia, fused teeth, supernumerary teeth, malformed permanent teeth, enamel defects, root dilacerations, malposition and malocclusion, have also been reported. Ocular abnormalities include bilateral congenital cataracts, microphthalmia, regressive vision impairment, secondary glaucoma, and ptosis. Exotropia is very common. The facial features described include a long narrow face, high nasal bridge, broad nasal tip with separated nasal cartilages, laterally curved and thick eyebrows, long philtrum, clefts of the hard/soft palate. Cardiac defects reported include ventricular septal defect, atrial septal defect, mild cardiomegaly, ventricular and atrial hypertrophy, benign peripheral pulmonic stenosis, mitral valve prolapse. Occasional reports have noted skeletal findings (syndactly of the second and third toes, hammer-type flexion of the second and fourth toes, radio-ulnar synostosis, and vertebral and rib anomalies), intestinal malrotation, hearing impairment, intellectual and psychomotor deficit.
## Etiology
The BCOR gene on chromosome Xp11.4 is causative, however its exact function remains unknown.
## Diagnostic methods
Diagnosis of OFCD is hard for medical specialists and the syndrome is often unrecognized. The specific dental findings (visible on a panoramic radiograph of the jaws) can be easily diagnosed by an orthodontist or a dentist.
## Genetic counseling
OFCD is an X-linked dominant syndrome that is lethal in males.
## Management and treatment
Management requires appropriate cardiac, ophthalmic and dental care.
*[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
|
Oculofaciocardiodental syndrome
|
c1846265
| 7,653 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2712
| 2021-01-23T18:43:42 |
{"gard": ["4628"], "mesh": ["C537465", "C537735"], "omim": ["300166"], "umls": ["C1846265", "C2931601"], "icd-10": ["Q87.8"], "synonyms": ["Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome", "OFCD syndrome"]}
|
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness. KID syndrome is caused by mutations in the GJB2 gene. Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported. Treatment focuses on the specific symptoms present.
*[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
|
KID syndrome
|
c0265336
| 7,654 |
gard
|
https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome
| 2021-01-18T17:59:36 |
{"mesh": ["C536168"], "omim": ["148210"], "umls": ["C0265336"], "orphanet": ["477"], "synonyms": ["Keratitis-ichthyosis-deafness syndrome, autosomal dominant", "KID syndrome, autosomal dominant", "Keratitis, Ichthyosis, and Deafness (KID) Syndrome", "KID/HID syndrome", "Senter syndrome", "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome", "Ichthyosis hystrix Rheydt type"]}
|
Intra-abdominal infection
SpecialtyGastroenterology
Intra-abdominal infection (IAI, also spelled intraabdominal) is a group of infections that occur within the abdominal cavity. They vary from appendicitis to fecal peritonitis.[1] Risk of death despite treatment is often high.[1]
## References[edit]
1. ^ a b Sartelli, Massimo; Viale, Pierluigi; Catena, Fausto; Ansaloni, Luca; Moore, Ernest; Malangoni, Mark; Moore, Frederick A; Velmahos, George; Coimbra, Raul; Ivatury, Rao; Peitzman, Andrew; Koike, Kaoru; Leppaniemi, Ari; Biffl, Walter; Burlew, Clay Cothren; Balogh, Zsolt J; Boffard, Ken; Bendinelli, Cino; Gupta, Sanjay; Kluger, Yoram; Agresta, Ferdinando; Di Saverio, Salomone; Wani, Imtiaz; Escalona, Alex; Ordonez, Carlos; Fraga, Gustavo P; Junior, Gerson Alves Pereira; Bala, Miklosh; Cui, Yunfeng; Marwah, Sanjay; Sakakushev, Boris; Kong, Victor; Naidoo, Noel; Ahmed, Adamu; Abbas, Ashraf; Guercioni, Gianluca; Vettoretto, Nereo; Díaz-Nieto, Rafael; Gerych, Ihor; Tranà, Cristian; Faro, Mario Paulo; Yuan, Kuo-Ching; Kok, Kenneth Yuh Yen; Mefire, Alain Chichom; Lee, Jae Gil; Hong, Suk-Kyung; Ghnnam, Wagih; Siribumrungwong, Boonying; Sato, Norio; Murata, Kiyoshi; Irahara, Takayuki; Coccolini, Federico; Lohse, Helmut A Segovia; Verni, Alfredo; Shoko, Tomohisa (2013). "2013 WSES guidelines for management of intra-abdominal infections". World Journal of Emergency Surgery. 8 (1): 3. doi:10.1186/1749-7922-8-3. PMC 3545734. PMID 23294512.
*[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
|
Intra-abdominal infection
|
c1112209
| 7,655 |
wikipedia
|
https://en.wikipedia.org/wiki/Intra-abdominal_infection
| 2021-01-18T18:31:04 |
{"mesh": ["D059413"], "wikidata": ["Q30314067"]}
|
A number sign (#) is used with this entry because classic Bartter syndrome type 3 (BARTS3) is caused by homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB; 602023) on chromosome 1p36.
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
### Genetic Heterogeneity of Bartter Syndrome
Antenatal Bartter syndrome type 1 (601678) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; 600839). Antenatal Bartter syndrome type 2 (241200) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1; 600359). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (602522), is caused by mutation in the BSND gene (606412). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (613090), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.
Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (601198), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (601199).
See Gitelman syndrome (GTLMN; 263800), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (600968).
Clinical Features
Bartter syndrome (Bartter et al., 1962) is an unusual form of secondary hyperaldosteronism in which hypertrophy and hyperplasia of the juxtaglomerular cells are associated with normal blood pressure and hypokalemic alkalosis in the absence of edema. The primary defect resides in active chloride reabsorption in the loop of Henle. The features are short stature, hyperactive renin-angiotensin system, lack of effect of angiotensin on blood pressure, renal potassium wasting, increased renal prostaglandin production, and occasionally hypomagnesemia.
Arant et al. (1970) reported 2 brothers with features of Bartter syndrome but with severe azotemia at the onset and in one of them renal osteodystrophy. Renal biopsy showed only mild hyperplasia of juxtaglomerular cells and severe glomerulonephritis. Most of the patients have shown retardation of growth and mental development, but the patient of Tarm et al. (1973) represented an exception. Erkelens and Statius van Eps (1973) described a patient with erythrocytosis in addition to the Bartter syndrome. They interpreted this as evidence that both renin and erythropoietin are produced in the juxtaglomerular apparatus. Dillon et al. (1979) studied 10 affected children, 2 of whom were sibs. Severity varied widely. Ages varied from 3 months to 15 years; sex distribution was equal. Hypercalcemia, hyperphosphatemia, hypercalciuria, nephrocalcinosis, rickets, and urine acidification defects were seen in some patients. Indomethacin effected remarkable clinical and biochemical improvement. Simopoulos (1979) observed a delayed growth spurt in Bartter syndrome resulting in attainment of normal stature. Two-thirds of the children have some degree of mental retardation.
The relation of the disorder reported by De Jong et al. (1980) to the Bartter syndrome was unclear. They studied an adult brother and sister with hyperaldosteronism and hyperkalemia who differed from cases of Bartter syndrome in the presence of hypertension. Response to indomethacin suggested excessive prostaglandin production which may have been primary. The sibs also showed tachycardia.
Ramos et al. (1980) demonstrated that the Bartter syndrome can be simulated by habitual vomiting, as in anorexia nervosa. Renal biopsy showed hyperplasia of the juxtaglomerular apparatus. Hyperkalemic alkalosis, normotensive hyperreninism, hyperaldosteronism, increased levels of urinary and plasma prostaglandin E (PGE), and vascular hyporesponsivity to angiotensin II were features identical to those of idiopathic Bartter syndrome, but unlike that disorder the patient showed low urinary chloride and no increase in the fractional chloride clearance. Any process that leads to hypokalemia can result in the Bartter syndrome. Wolfsdorf and Senior (1980) reported pseudo-Bartter syndrome in 2 infants fed exclusively with soybean-based formula which as a result of a manufacturing error was severely deficient in chloride.
In studies of 3 sibs, a boy and 2 girls aged 17, 11, and 18 years, Stoff et al. (1980) found a defect in platelet aggregation. They suggested that this may be caused by an increase in plasma cAMP resulting from excessive prostaglandins. Increased renal synthesis of these long chain fatty acids is presumably responsible for many features of the syndrome: vascular insensitivity, impaired urinary concentrating ability, and obligatory renal sodium loss. O'Regan et al. (1979) had demonstrated that presumed obligatory heterozygotes (parents) have impairment of epinephrine-induced platelet aggregation, thought to reflect an abnormality of prostaglandin metabolism. Furthermore, a circulating inhibitor of platelet aggregation, probably a prostaglandin, was found. The inhibition of platelet aggregation was aggravated by salt depletion (Stoff et al., 1980) although renal features improved. Baehler et al. (1980) reported a 43-year-old man with Bartter syndrome who had suffered from generalized weakness, muscle cramps, and chest pain since his teens, with aggravation of these symptoms in the previous 6 months. Family information was not provided.
Kurtz et al. (1981) described a family in which 5 of 9 sibs (aged 20 to 30 years) had bilateral nephrocalcinosis, hypercalciuria, chronic chloride-resistant renal metabolic alkalosis, and hypokalemia due to renal wasting. Creatinine clearance was little reduced. Plasma renin activity and urinary aldosterone excretion were abnormally high. Blood pressure was normal. No defect in the loop of Henle could be demonstrated. No further information and no definitive report was available (Sebastian, 1989). Ruvalcaba and Martinez (1992) described 3 sibs with a combination of isolated growth hormone deficiency and Bartter syndrome. The mother had short stature with growth hormone deficiency. Other members of the kindred had average stature. All the patients were normotensive. Treatment of the 2 youngest sibs with growth hormone in addition to potassium and magnesium resulted in greater than doubled growth velocity. Smilde et al. (1994) described a family in which 7 members had hypokalemic alkalosis with hypomagnesemia and hyperreninemic hyperaldosteronism. Also, as a major symptom, they had chondrocalcinosis, a known complication of Bartter syndrome. The proband was a female who presented at age 39 with acute attacks of arthritis and was found to have chondrocalcinosis of several joints. The metabolic changes of Bartter syndrome were found 15 years later and a decreased serum magnesium was found at the age of 61. Magnesium therapy was instituted at that time and over a period of 10 years a significant reduction of the calcifications was noted. Calcium pyrophosphate crystals were demonstrated in synovial fluid of the knee by polarized microscopy. In addition, 3 brothers out of a total of 9 sibs were also affected, as were a daughter and 2 sons of the proband. Symptomatic involvement of the symphysis pubis by the chondrocalcinosis was a feature in this family. The pattern of inheritance is consistent with autosomal recessive transmission if the proband were married to a heterozygote; none of the 16 children of her 3 affected brothers was affected. In all of the patients, urinary magnesium excretion was inappropriately high and urinary calcium excretion inappropriately low. Chondrocalcinosis by itself is usually an autosomal dominant (118600); combined potassium and magnesium wasting (263800) is an autosomal recessive disorder.
Simon et al. (1997) reported 17 kindreds with Bartter syndrome type 3, confirmed by genetic analysis. A review of index cases from each kindred showed that all had spontaneous hypokalemia (serum K+ levels as low as 1.1), all had elevation of serum bicarbonate, and all had evidence of salt-wasting. Age at presentation ranged from birth to 16 years. Six studied patients had elevation of serum renin and aldosterone. The fractional reabsorption of chloride in the TAL is normally 80 to 95%; in the index patients from 2 families, the fractional chloride reabsorption was profoundly depressed at 24% and 25%, respectively, indicating a striking defect in chloride reabsorption in the TAL. Hypercalciuria was present in 11 of 17 index cases, while 6 had calcium values in the normal range. The clinical picture in the cases described by Simon et al. (1997) varied in severity from near-fatal volume depletion with hypokalemic alkalosis and respiratory arrest or requirement for massive intravenous potassium replacement to very mild disease presenting with only polyuria and weakness at age 16. Even among patients with homozygous deletions, age at presentation and clinical severity were highly variable. A feature that distinguished the disorder clearly from other forms of Bartter syndrome was the absence of renal calcification (nephrocalcinosis) in all examined patients.
Fukuyama et al. (2004) reported 2 Japanese patients who suffered from clinically diagnosed classic Bartter syndrome but who had hypocalciuria. Hypocalciuria is believed to be a pathognomic finding of Na-Cl cotransporter malfunction. Two mutations in the CLCNKB gene were found (602023.0009, 602023.0010). The authors concluded that some CLCNKB mutations may affect calcium handling in renal tubular cells.
Sun et al. (2005) reported a patient with classic Bartter syndrome who had bilateral sclerochoroidal calcification. Optical coherence tomography showed normal retina and retinal pigment epithelium overlying the choroidal lesions. The patient had persistent hypomagnesemia and normocalcemia for 26 years despite magnesium supplementary treatment. The authors suggested that hypomagnesemia may have a pathogenic role in the development of sclerochoroidal calcification in this disorder.
Inheritance
Cannon et al. (1968) reviewed the subject and pointed out that affected twins were reported by Campbell et al. (1966) and affected sibs by Trygstad et al. (1967). Sutherland et al. (1970) described the disorder in 3 sibs (including a pair of female twins) and in the offspring of an incestuous (father-daughter) mating. Delaney et al. (1981) studied 6 affected sibs. Walker (1982) observed 3 affected sibs in a Filipino family. Rodrigues Pereira and van Wersch (1983) studied platelet aggregation in the parents and sibs of 8 patients with the Bartter syndrome and concluded that the findings supported autosomal recessive inheritance.
Pathogenesis
Gardner et al. (1970) presented evidence for a primary defect in membrane transport, based on studies of sodium content and outflux of erythrocytes. Ramos et al. (1980) suggested that the underlying mechanism in idiopathic Bartter syndrome appears to be a defect in chloride reabsorption in the ascending thick limb of Henle's loop, which allows excess secretion of potassium. Hypokalemia leads to increased prostaglandin synthesis. The distal fractional chloride reabsorption in the Bartter syndrome is about 0.4 rather than the normal of 0.92. Baehler et al. (1980) suggested that the 'proximate' cause of Bartter syndrome in a patient they studied was a primary defect in the reabsorption of sodium chloride in the ascending limb and not renal potassium wasting.
Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport including Bartter and Gitelman syndromes.
Mapping
Simon et al. (1997) reported that their group had identified mutations in either NKCC2 or ROMK in 22 of 66 Bartter syndrome families. To ensure that the failure to find mutations in 44 families did not simply reflect incomplete mutation detection, they genotyped markers tightly linked to these 2 loci in 11 kindreds in which affected subjects were the offspring of consanguineous unions and tested for linkage by homozygosity. No evidence of linkage was found, indicating that mutations in other unlinked loci account for Bartter syndrome in the great majority, if not all, of the other kindreds. Considering CLCNKA (602024) and CLCNKB (603023) as candidate genes in these families, Simon et al. (1997) genotyped 3 polymorphic loci in these 11 kindreds. Affected subjects in 5 of these kindreds were homozygous at all loci, consistent with linkage to CLCNKA/CLCNKB (lod score of 4.72 at theta = 0), on chromosome 1.
Molecular Genetics
In affected members of 10 kindreds with Bartter syndrome type 3, Simon et al. (1997) found homozygous deletion of the CLCNKB gene. Two kindreds showed homozygous loss of part of CLCNKB. The authors also demonstrated 7 mutations altering the CLCNKB gene and cosegregating with the disease (see, e.g., 602023.0001-602023.0005).
Population Genetics
Hall (1971) reported that over three-fourths of families with Bartter syndrome in the United States are black. However, Gill (1980) reported that only 6 of 18 US families with Bartter syndrome in an NIH study were black.
History
In a family with 6 affected sibs out of 13, Graham et al. (1986) tested for concordance with a RFLP of the atrial natriuretic factor gene (ANF; 108780). The polymorphism did not cosegregate with the disease, thereby excluding ANF as the site of the abnormality in the Bartter syndrome.
Yabe et al. (1987) reported the case of a girl with Bartter syndrome associated with 21-hydroxylase deficiency (201910) and a balanced 6q;9p translocation. The 2 metabolic disorders were presumably unrelated; furthermore, neither seemed to be related to the translocation, since the healthy mother and 2 healthy sibs carried the same translocation.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Multifocal yellow-white geographic, solid, choroidal lesions along the retinal vascular arcades \- B-scan ultrasound shows echogenic, placoid calcified lesions at the level of the sclera and choroid \- Optical coherence tomography shows normal retina and retinal pigment epithelium overlying the sclerochoroidal lesions CARDIOVASCULAR Vascular \- Low blood pressure GENITOURINARY Kidneys \- Renal salt wasting \- Renal potassium wasting \- Impaired reabsorption of chloride \- Nephrocalcinosis is absent \- Polyuria MUSCLE, SOFT TISSUES \- Generalized muscle weakness METABOLIC FEATURES \- Dehydration \- Hypokalemic metabolic alkalosis ENDOCRINE FEATURES \- Hyperactive renin-angiotensin system \- Increased plasma renin \- Increased plasma aldosterone LABORATORY ABNORMALITIES \- Hypokalemia \- Increased serum bicarbonate \- Increased urinary potassium \- Increased urinary chloride \- Hypocalciuria or normocalciuria MISCELLANEOUS \- Variable age of onset \- Clinical variation MOLECULAR BASIS \- Caused by mutation in the kidney chloride channel B gene (CLCNKB, 602023.0001 ) ▲ 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
|
BARTTER SYNDROME, TYPE 3
|
c1846343
| 7,656 |
omim
|
https://www.omim.org/entry/607364
| 2019-09-22T16:09:19 |
{"doid": ["0110144"], "mesh": ["C537653"], "omim": ["607364"], "orphanet": ["93605", "112"], "synonyms": ["Alternative titles", "BARTTER SYNDROME, CLASSIC"]}
|
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
## Epidemiology
Type 1 is the most frequent form of GM1 gangliosidosis but the exact prevalence is not known. About 200 cases have been reported to date. Overall prevalence at birth of GM1 gangliosidosis is estimated to be approximately 1:100,000 to 200,000 live births.
## Clinical description
The onset of this disorder may be in utero (non immune hydrops fetalis) or by the age of six months. Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features. Cardiomyopathy may occur.
## Etiology
GM1 gangliosidosis is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase.
## Diagnostic methods
Diagnosis is based on clinical signs although classic signs are not always present at diagnosis. Biochemical and/or molecular genetic tests confirm the diagnosis.
## Differential diagnosis
Differential diagnosis includes mucopolysaccharidoses, sphingolipidoses and oligosaccharidoses (see these terms).
## Antenatal diagnosis
Prenatal diagnosis can be performed by analysis of beta-galactosidase activity and/or by GLB1 molecular analysis in either chorionic villus (CV) cells or amniotic fluid cells if mutations are found in an index case.
## Genetic counseling
GM1 gangliosidosis is an autosomal recessive disease. Genetic counseling should be provided to affected families.
## Management and treatment
Treatment for patients with GM1 gangliosidosis is symptomatic and supportive.
## Prognosis
Prognosis is very poor with life-expectancy rarely exceeding 2 years. Causes of death include pneumonia due to recurrent aspiration and cardiopulmonary failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
GM1 gangliosidosis type 1
|
c1968748
| 7,657 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79255
| 2021-01-23T18:11:10 |
{"gard": ["6479"], "mesh": ["C566895"], "omim": ["230500"], "icd-10": ["E75.1"], "synonyms": ["Infantile GM1 gangliosidosis", "Norman-Landing disease"]}
|
This article is about the bacterial infection. For the Thoroughbred racehorse, see Thrush (racehorse).
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Thrush" horse – news · newspapers · books · scholar · JSTOR (May 2013) (Learn how and when to remove this template message)
Thrush is a very common bacterial infection that occurs on the hoof of a horse, specifically in the region of the frog. The bacterium involved is Fusobacterium necrophorum,[1] and occurs naturally in the animal's environment — especially in wet, muddy, or unsanitary conditions, such as an unclean stall — and grows best with low oxygen.[2] Horses with deep clefts, or narrow or contracted heels are more at risk of developing thrush.
## Contents
* 1 Symptoms
* 2 Treatment and prevention
* 3 References
* 4 Further reading
## Symptoms[edit]
The most obvious sign of thrush is usually the odor that occurs when picking out the feet.[2] Additionally, the infected areas of the hoof will be black in color (even on a dark-horned hoof), and will easily break or crumble when scraped with a hoof pick. When picking the hooves around thrush areas, the differences between healthy and infected areas can be seen when white/gray tissue (healthy frog) is surrounding a dark, smelly (infected) area.
Most horses do not become lame if infected with thrush. However, if left untreated, the bacteria may migrate deeper into the sensitive parts of the hoof, which will result in lameness. Then, the horse may also react when its feet are picked out, and blood may be seen.
## Treatment and prevention[edit]
Treatment for horses with thrush includes twice-daily picking of the feet, taking special care to clean out the two collateral grooves and the central sulcus. The feet may then be scrubbed clean using a detergent and/or disinfectant and warm water, before the frog is coated with a commercial thrush-treatment product, or with iodine solution, which may be soaked into cotton balls and packed into the clefts.[2] Several home remedies are used, such as a hoof packing of a combination of sugar and betadine, powdered aspirin, borax, or diluted bleach. It is best, however, to speak with the horse's veterinarian, to be sure these home remedies are effective and, more importantly, safe for use on horses.
Horses with thrush, or those at risk for contracting it, are best kept in a dry, clean environment. Daily cleaning of the hooves also contributes to the prevention of thrush.[2] In general, thrush is relatively easy to treat, although it can easily return and it can take up to a year for a fully healthy frog to regrow after a severe infection.
## References[edit]
1. ^ https://www.thehorse.com/articles/27319/the-lowdown-on-thrush
2. ^ a b c d Ensminger, M. E. (1990). Horses and Horsemanship: Animal Agriculture Series (Sixth ed.). Danville, IL: Interstate Publishers. p. 62. ISBN 0-8134-2883-1.
## Further reading[edit]
* http://www.equisearch.com/horses_care/health/hoof_care/eqthrush305/
* https://www.thehorse.com/articles/26470/brushing-up-on-thrush
* https://www.thehorse.com/articles/32743/thrush-that-black-smelly-gooey-stuff
* https://www.thehorse.com/articles/20341/thwarting-thrush
* https://practicalhorsemanmag.com/health-archive/how-to-treat-my-horses-thrush-27863
*[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
|
Thrush (horse)
|
None
| 7,658 |
wikipedia
|
https://en.wikipedia.org/wiki/Thrush_(horse)
| 2021-01-18T18:43:22 |
{"wikidata": ["Q2353089"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-12 (ARMD12) is conferred by mutation in the CX3CR1 gene (601470) on chromosome 3p22.
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see 603075.
Pathogenesis
Combadiere et al. (2007) studied the eyes of patients with age-related macular degeneration and found that microglial cells accumulated in the subretinal space at sites of retinal degeneration and choroidal neovascularization.
Molecular Genetics
Tuo et al. (2004) screened the CX3CR1 SNPs V249I and T280M (601470.0001) among ARMD patients (85 clinically diagnosed and 32 pathologically diagnosed paraffin-embedded eye sections) and controls (105 recruited subjects and 171 healthy blood donors) and determined the level of expression in ARMD and normal eye tissues. They found an increased prevalence, with the highest odds ratio of 3.57, of I249 and M280 carriers among ARMD cases compared with controls. When comparing CX3CR1 expression in the archived eye sections, CX3CR1 transcripts were not detectable in the maculae of ARMD eyes bearing T/M280; transcripts were detected in the maculae of normal eyes bearing T/T280 or T/M280 as well as in ARMD maculae bearing T/T280. Lower CX3CR1 protein expression was observed in the maculae of ARMD eyes bearing T/M280 compared with controls bearing T/T280. The I249 and M280 alleles result in a lowered number of receptor binding sites and decreased ligand affinity. Tuo et al. (2004) concluded that a decrease, caused by sequence variation and/or lower CX3CR1 expression, in CX3CR1-induced cellular activities could contribute to ARMD development.
Combadiere et al. (2007) found that homozygosity for the CX3CR1 M280 allele was consistently more frequent in ARMD patients compared to patients with other diseases from previously published studies. They also found that chemotaxis of monocytes from individuals with homozygous I249/M280 genotypes was impaired in the presence of bound CX3CR1.
*[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
|
MACULAR DEGENERATION, AGE-RELATED, 12
|
c3151079
| 7,659 |
omim
|
https://www.omim.org/entry/613784
| 2019-09-22T15:57:32 |
{"omim": ["613784"]}
|
This article is about the ailment. For uses of the word splint, see Splint (disambiguation).
Splints is an ailment of the horse or pony, characterized by a hard, bony swelling, usually on the inside of a front leg, lying between the splint and cannon bone or on the splint bone itself. It may be "hot," meaning that it occurred recently and is still painful; or "cold," meaning that the splint has completely recovered and there is no longer any swelling or pain associated with it. Bucked shins are sometimes called 'shin splints,' which involve small stress fractures of the dorsal cannon bone, often seen in race training, and discussed elsewhere.
## Contents
* 1 Anatomy
* 2 Causes
* 3 Blind splints
* 4 Symptoms
* 5 Treatment
* 6 Prognosis
* 7 References
* 8 Sources
* 9 External links
## Anatomy[edit]
Main article: Equine forelimb anatomy
The splint bones, (metacarpal or metatarsal II and IV), which are remnants of two of the five toes of prehistoric horses, run down either side of the cannon bone. They narrow as they go from the carpal or tarsal joint down, and form a "button" at the bottom or their length, a few inches above the fetlock. Splint bones are attached to the cannon by the interosseous (suspensory) ligament, providing some mobility in the young horse. As the horse ages, the interosseous ligament is typically replaced by bone. In some older horses, the cannon and splint bones may become completely fused.
## Causes[edit]
Direct trauma, such as from an interference injury or a kick from another horse, is a common causes of splints. The periosteum is damaged by the trauma, and the horse's body lays down new bone in the injured area. Splints caused by trauma are more commonly seen lower down the leg than ones caused by strain. The splints may occur in a front leg or hind, in one leg or both. Severe enough trauma can fracture the splint bone. If minimally displaced, and in the lower portion, some heal well. Others may need surgical removal of a portion of the damaged splint bone.[1]
Concussion is another cause of splints. Concussive forces run from the carpus or tarsus into the splint bones. Working a horse on hard surfaces increases the concussion received by the interosseous ligament, which causes tearing. Splints caused by concussion are usually found on both front legs, most commonly on the inside of the leg a few inches below the knee.
Overworking young or unfit horses at speed or in tight circles may cause splints. The uneven loading of the limb in tight circles places excessive force on the medial splint, which can cause it to move excessively relative to the cannon bone, causing tears in the interosseous ligament and periosteal reaction.
Bench-kneed conformation causes excess loading of the medial splint bone, which can lead to splints.[2]
## Blind splints[edit]
Because the splint bone does have some mobility independent of the cannon bone, it can cause tension and strain on the periosteum of the splint bone where the interosseous ligament attaches. The horse will then lay down new bone and the area will become inflamed. "Blind splints" are named because the bony reaction happens on the inside border between the splint bone and cannon bone, where it can not be seen, and is usually not palpable. Besides causing pain as any active splint reaction can, the swelling can impinge on the suspensory ligament. This condition is difficult to diagnose, but ultrasound is generally diagnostic.[3] MRI and CT also show these well.[4]
## Symptoms[edit]
Splints usually cause mild lameness (a grade of 1–2 out of 5). The injured area is hot, painful, and inflamed with a small bony swelling. However, splints do not always cause lameness, especially once "cold". More severe lameness is sometimes associated with a fractured splint bone, or soft tissue injury adjacent to the splints.
"Blind splints" usually produce mild lameness that is difficult to pinpoint because there is no obvious swelling, pain, or bony changes related to the exterior of the splint bone. At times, bone proliferation on the axial border of the splint bone can be seen radiographically, but ultrasound is much more sensitive for detecting blind splints.
The body will eventually absorb some of the bone it placed down in the splint, flattening out the splint over several months and possibly making it completely disappear. A splint involving the cannon alone is more likely to disappear than one involving the splint bone itself.
## Treatment[edit]
The horse should have a reduced workload for 1–3 weeks. If a trainer does not decrease the workload sufficiently, and the splint bone continues to receive concussion, the injury is likely to continue or worsen. Light exercise on soft ground is best for a horse with splints, as work can help encourage the needed bone growth to heal the splint. Those trainers concerned with the cosmetic appearance of their horse usually prefer to hand-walk twice daily and keep the animal stalled until the splint is resolved, eliminating the chance that the splint will accidentally be knocked during work and the swelling increased.
Several days of cold therapy, sweats, and NSAIDs can help a "hot" splint. NSAIDs can help reduce the inflammation and help the bone growth by doing so. However, none of these treatments are incredibly effective. The most important factor is time. Counter-irritants, which increase inflammation, only hinder the formation of bone and can actually prolong the healing process.
Surgery to remove the fractured end of the splint bone, particularly in the lower third, is typically successful. However, surgical removal of the bone growth in large splints, performed by chiseling it away, usually does not produce satisfying results. Often, bone growth is stimulated by the surgery, and the size of the splint is increased. Only about a third of the time is surgery at all successful.
## Prognosis[edit]
Prognosis is excellent in uncomplicated cases. The horse will be able to return to full work once the inflammation and pain ceases. Although the horse usually recovers quite quickly, horses with "blind splints" may take longer because there may be impingement on the suspensory ligament. The calcification of the splint is usually a permanent blemish, though over a period of many years, the excess calcification may be reabsorbed to some degree, occasionally to the point that the splint is no longer visible.
## References[edit]
1. ^ Stashak, Ted S. (2002). "Fractures of the small Metacarpal and Metatarsal (splint) bones". Adams' lameness in Horses (5th ed.). Blackwell. pp. 821–824. ISBN 0-7817-4195-5. Retrieved 2008-04-25.
2. ^ Stashak, Ted S. (2002). "Metacarpal/Metatarsal exostosis (splints)". Adams' lameness in Horses (5th ed.). Blackwell. pp. 818–821. ISBN 0-7817-4195-5. Retrieved 2008-04-25.
3. ^ Reef, VB (1998). "Musculoskeletal Ultrasonography". Equine Diagnostic Ultrasound. Philadelphia, PA: Saunders. p. 106. ISBN 0-7216-5023-6.
4. ^ "Blind Splint Case Study". Retrieved 2008-04-25.
## Sources[edit]
King, Christine, BVSc, MACVSc, and Mansmann, Richard, VDM, PhD. "Equine Lameness." Equine Research, Inc. 1997. Pages 752–757.
## External links[edit]
Wikisource has the text of a 1905 New International Encyclopedia article about "Splints".
* X-rays
* Medical diagram
*[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
|
Splints
|
c0263941
| 7,660 |
wikipedia
|
https://en.wikipedia.org/wiki/Splints
| 2021-01-18T19:05:56 |
{"wikidata": ["Q7578590"]}
|
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
Some of this article's listed sources may not be reliable. Please help this article by looking for better, more reliable sources. Unreliable citations may be challenged or deleted. (July 2019) (Learn how and when to remove this template message)
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: "Gerascophobia" – news · newspapers · books · scholar · JSTOR (July 2019)
(Learn how and when to remove this template message)
Gerascophobia is an abnormal or incessant fear of growing older or ageing (senescence).[1]
## Contents
* 1 Background
* 2 Symptoms
* 3 Etymology
* 4 See also
* 5 References
## Background[edit]
Gerascophobia is a clinical phobia generally classified under specific phobias or fears of a single specific panic trigger. Gerascophobia may be based on anxieties of being left alone without resources and incapable of caring for oneself due to age-caused disability.[2]
Due to humans being mortality salient, sufferers will often feel as though ageing is the first sign that their immune systems are starting to weaken, making them more vulnerable and prone to diseases. They view ageing as a human flaw or form of self-obliteration, rather than as a natural progression in life.
## Symptoms[edit]
Some sufferers seek plastic surgery to make them look more youthful,[3] while the main concern of others is a fear of internal, biological long-term damage caused by the ageing process.
## Etymology[edit]
The term gerascophobia comes from the Greek γηράσκω, gerasko, "I grow old" and φόβος, phobos, "fear".[4] Some authors refer to it as gerontophobia, although this may also refer to the fear of the elderly due to memento mori.[4]
## See also[edit]
* Gerontophobia
* Fountain of Youth
* Thanatophobia
* List of phobias
* Mid-life crisis
* Nihilism
* Altruism
* Existential crisis
## References[edit]
1. ^ Definition of gerascophobia on MedTerms.com
2. ^ John G. Robertson, An Excess of Phobias and Manias, p. 90.
3. ^ https://abcnews.go.com/GMA/BeautySecrets/story?id=2991351&page=1
4. ^ a b Perspectives on Aging, by Priscilla W. Johnston, 1982, ISBN 0-88410-734-5, pp. 239-241
This abnormal psychology–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
|
Gerascophobia
|
None
| 7,661 |
wikipedia
|
https://en.wikipedia.org/wiki/Gerascophobia
| 2021-01-18T19:09:04 |
{"wikidata": ["Q5550344"]}
|
Raspberry leaf spot
Causal agentsSphaerulina rubi
HostsRaspberry
EPPO CodeSPHNRU
Raspberry leaf spot
Scientific classification
Kingdom: Fungi
Division: Ascomycota
Class: Dothideomycetes
Order: Capnodiales
Family: Mycosphaerellaceae
Genus: Sphaerulina
Species:
S. rubi
Binomial name
Sphaerulina rubi
Demaree & Wilcox, (1943)
Raspberry leaf spot is a plant disease caused by Sphaerulina rubi, an ascomycete fungus. Early symptoms of infection are dark green spots on young leaves. As the disease progresses, these spots turn tan or gray in color. Disease management strategies for raspberry leaf spot include the use of genetically resistant raspberry plant varieties, chemical fungicide sprays, and cultural practices such as pruning and thinning out canes.
Raspberries are an important fruit, mainly grown in Washington, Oregon and California.[1][2] Although they are also grown in the Midwest and northeastern states, the output is not nearly as great due to the colder weathers and shorter growing seasons.[1] S. rubi prefers warmer and wetter conditions, which can make raspberry production very difficult in California.
## Contents
* 1 Hosts and symptoms
* 2 Disease cycle
* 3 Environment
* 4 Management
* 5 Importance
* 6 References
* 7 External links
## Hosts and symptoms[edit]
A raspberry leaf spot infection initially causes dark green circular spots on the upper side of young leaves, which will eventually turn tan or gray.[3] These spots are typically 1–2 mm in diameter, but can get as big as 4–6 mm.[4] These spots can also fall out, causing a shot effect.More severe infections can cause leaves to drop prematurely in the late summer and early fall.[5] Due to the loss of leaves, infected raspberries are more susceptible to winter injury.[6] As a result, raspberry leaf spot may not only reduce yield in season, but cause lasting consequence into the next season.
Raspberry leaf spot is also typically more severe in primocanes (first year canes) than floricanes (second year canes).
The symptoms of raspberry leaf spot are similar to the symptoms of Raspberry Anthracnose. The best way to differentiate between the two fungal diseases is to inspect the stems of the plant. Stem lesions are indicative of raspberry anthracnose.
In 1943, it was discovered that S. rubi only infects raspberry plants.[4] Previously, the pathogen had also been blamed for leaf spot on blackberry and dewberry. However, Demaree and Wilcox demonstrated the raspberry pathogen could not cause leaf spots on blackberry or dewberry.[4] The similar pathogens were also differentiated as perfect and imperfect, as the blackberry leaf spot pathogen didn't have a known sexual stage.
## Disease cycle[edit]
Raspberry leaf spot disease cycle
In spring, when conditions are favorable, ascospores are discharged from perithecia that have overwintered in fallen leaves and canes and disseminate to infect young leaves of raspberry plants.[5] Once infected, the raspberry leaf serves as a nutrient source for the fungus to begin producing secondary inoculum, or conidia, within pycnidia, a survival structure that protects the spores. Conidia can undergo several repeating secondary cycles and re-infect other nearby plants. When the leaves of the raspberry plant begin to fall, perithecia form in the fallen tissue where asci and ascospores will be produced and protected until the following spring. The perithecia are black, found subepidermaly.[7] The ascospores are characterized by a cylindrical, curved shape and are pointed at both ends with four septate usually.[7]
Diagram of a perithecium. Each ascus contains eight ascospores, shown in green.
## Environment[edit]
Sphaerulina rubi grows optimally in humid conditions, which promotes wet leaves. In general, the conidia of S. rubi are disseminated through wind and rain. With these favorable conditions, the fungus can cause secondary infections more easily, thus leading to a more serious outbreak.
Furthermore, because the fungus produces pycnidia, a survival structure that contains conidia, it can survive in a range of temperatures, although the fungus grows optimally at 27 °C or 80 °F.[4] Provided that there is adequate moisture, the conidia from the pycnidia will be able to disseminate via wind and rain.
Raspberry leaf spot infections will typically be more severe in parts of the United States that are climatically warmer and more humid.
## Management[edit]
Genetic resistance is the preferred disease management strategy because it allows farmers to minimize chemical intervention. Less pesticide and fungicide can encourage biological control agents, reduce production costs, and minimize the chemical residues in fruit.[8] Some genetic varieties of raspberry are better than others for the control of leaf spot. Nova and Jewel Black are both resistant varieties,[9] while Prelude and Honey Queen Golden Raspberry have some resistance, but can be susceptible depending on environmental conditions.[9] Reiville, Canby, Encore and Anne are the most susceptible varieties.[1][9][10]
Cultural practices are also important for the management of raspberry leaf spot, this includes spacing out and narrowing rows to increase air flow and faster drying as well as removing any weeds and thinning out old canes. Sanitation, which includes the removal of all plant debris and infected canes in the fall, reduces places for the pathogen to overwinter.[4] Pruning the raspberry plants and planting in rows will allow for airflow to dry leaves, creating an uninviting environment for fungi.[4] Furthermore, air flow circulation is important for reducing sporulation and successful infection. Lastly, avoid wounding the plants, as this may provide the fungus with an opportunity to infect.[4]
## Importance[edit]
Raspberry is the third most popular berry in the United States.[2] In the US, per capita consumption of fresh raspberries was 0.27 pounds in 2008 with frozen raspberry consumption adding 0.36 pounds.[2] Although there is a high demand for raspberries, growers find it very difficult to grow them. Not only are they relatively fastidious when it comes to general requirements for survival, but they also tend to be susceptible to disease. Specifically, raspberry leaf spot can be a debilitating disease if conditions are favorable.[6] If defoliation does occur due to raspberry leaf spot, the outcome can be economically devastating for the farmer.[6] Defoliation would cause the loss of the plant's ability to photosynthesize, and thus, the fruit would be lost shortly after.[6] Yield for raspberries can be anywhere from 0 to 6,000 pounds/acre, typical yields being 4,000 to 5,000 pounds/acre.[11] With an input cost of approximately $4,000, raspberries are a risky endeavor.[11]
## References[edit]
1. ^ a b c Hanson, Eric, Mike Von Weihe, Annemiek Schilder, Ann Chanon, and Joseph Scheerens. "High Tunnel and Open Field Production of Floricane- and Primocane-fruiting Raspberry Cultivars." HortTechnology 21.4 (2011): 412-18. Web. http://horttech.ashspublications.org/content/21/4/412.full.pdf+html
2. ^ a b c Geisler, Malinda. Agricultural Marketing Resource Center, Iowa State University http://www.agmrc.org/commodities__products/fruits/raspberries/
3. ^ Behrendt, Chad J. Raspberry Diseases. University of Minnesota Extension, Department of Plant Pathology, 2013. "Archived copy". Archived from the original on 2013-09-30. Retrieved 2013-10-23.CS1 maint: archived copy as title (link)
4. ^ a b c d e f g Demaree, J. B., Wilcox, Marguerite S. “The fungus causing the so-called ‘ Septoria leaf spot disease ‘ of Raspberry.” Phytopathology 1943 Vol. 33 No. 11 pp. 986–1003. http.www.cabdirect.org/abstracts/19441100325.html;jsessionid=A9733F609B4A57FB2E1BC645CCF7F220
5. ^ a b Plant and Insect Diagnostic Clinic. "Raspberry Leaf Spot." Iowa State University Extension and Outreach. National Plant Diagnostic Network, 30 Mar. 2012. Web. 5 Oct. 2013. <http://www.ipm.iastate.edu/ipm/info/plant-diseases/raspberry-leaf-spot>.
6. ^ a b c d Behrendt, Chad J. “Raspberry Diseases.” University of Minnesota Extension, Department of Plant Pathology, 2013. <"Archived copy". Archived from the original on 2013-09-30. Retrieved 2013-10-23.CS1 maint: archived copy as title (link)>
7. ^ a b Horst, R. K. "Leaf Spots." Wescott's Plant Disease Handbook. Vol. 7. New York City: Springer-Verlag Berlin Heidelberg, 2008. 362-63. Print. https://books.google.com/books?id=M6WLVNWDQ-QC&printsec=copyright#v=onepage&q&f=false
8. ^ Hanson, Eric et al. Raspberry Variety Performance in Southern Michigan. Horttechnology. July - September 2005. Pages 716 - 721 http://horttech.ashspublications.org/content/15/3/716.full.pdf>
9. ^ a b c Lakeview Farms. Raspberry Varieties We Have Grown. Lakeview Farms. Lakeview Farms. http://www.lakeview-farms.com/RaspberryVarietiesCombined.htm
10. ^ Ontario Ministry of Agriculture and Food. Notes on Raspberry Diseases - Raspberry Leaf Spot. Ontario Ministry of Agriculture and Food. June 2013. http://www.omafra.gov.on.ca/english/crops/pub360/notes/raspleafspot.htm
11. ^ a b English, Jean. "Raspberries: Challenging but Potentially Profitable." Maine Organic Farmers and Gardeners Association. Planet Maine, 2013. Web. 24 Nov. 2013. http://www.mofga.org/Publications/MaineOrganicFarmerGardener/Spring2005/Raspberries/tabid/1223/Default.aspx.
## External links[edit]
Taxon identifiers
* Wikidata: Q7576584
* EoL: 6627035
* EPPO: SPHNRU
* Fungorum: 291124
* GBIF: 5502843
* MycoBank: 291124
*[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
|
Raspberry leaf spot
|
None
| 7,662 |
wikipedia
|
https://en.wikipedia.org/wiki/Raspberry_leaf_spot
| 2021-01-18T18:42:20 |
{"wikidata": ["Q16989017"]}
|
Posterior polymorphous corneal dystrophy
Other namesOphthalmology
Appearance of the abnormal corneal endothelial cells that have become transformed into stratified squamous epithelium. Periodic acid Schiff (PAS) stain
Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) is a type of corneal dystrophy, characterised by changes in Descemet's membrane and endothelial layer. Symptoms mainly consist of decreased vision due to corneal edema. In some cases they are present from birth, other patients are asymptomatic. Histopathological analysis shows that the cells of endothelium have some characteristics of epithelial cells and have become multilayered. The disease was first described in 1916 by Koeppe as keratitis bullosa interna.[1]
## Contents
* 1 Genetics
* 2 Pathophysiology
* 3 Diagnosis
* 4 See also
* 5 References
* 6 External links
## Genetics[edit]
PPCD type 2 is linked to the mutations in COL8A2, and PPCD type 3 mutations in ZEB1 gene, but the underlying genetic disturbance in PPCD type 1 is unknown.
## Pathophysiology[edit]
Vacuoles are demonstrated in the posterior parts of the cornea. The vesicles are located on the endothelial surface. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In posterior polymorphous corneal dystrophy, the endothelium is often multilayered and has several other characteristics of an epithelium, including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases.[2]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (April 2018)
## See also[edit]
* Corneal dystrophy
## References[edit]
1. ^ Albrecht von Graefes (1916). "Klinische Beobachtungen mit der Nernstspaltlampe und dem Hornhautmikroskop". Arch. Klin. Exp. Ophthal. 91 (3): 363–379. doi:10.1007/BF01974655.
2. ^ "Posterior polymorphous corneal dystrophy". Online Mendelian Inheritance in Man(OMIM).
## External links[edit]
* Posterior Polymorphous Corneal Dystrophy at eMedicine
* v
* t
* e
Types of corneal dystrophy
Epithelial and subepithelial
* Epithelial basement membrane dystrophy
* Gelatinous drop-like corneal dystrophy
* Lisch epithelial corneal dystrophy
* Meesmann corneal dystrophy
* Subepithelial mucinous corneal dystrophy
Bowman's membrane
* Reis–Bucklers corneal dystrophy
* Thiel-Behnke dystrophy
Stroma
* Congenital stromal corneal dystrophy
* Fleck corneal dystrophy
* Granular corneal dystrophy
* Lattice corneal dystrophy
* Macular corneal dystrophy
* Posterior amorphous corneal dystrophy
* Schnyder crystalline corneal dystrophy
Descemet's membrane and
endothelial
* Congenital hereditary endothelial dystrophy
* Fuchs' dystrophy
* Posterior polymorphous corneal dystrophy
* X-linked endothelial corneal dystrophy
*[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
|
Posterior polymorphous corneal dystrophy
|
c0339284
| 7,663 |
wikipedia
|
https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy
| 2021-01-18T18:30:52 |
{"mesh": ["C562745"], "umls": ["C0339284"], "orphanet": ["98973"], "wikidata": ["Q4183965"]}
|
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Kyphomelic dysplasia
|
c0432239
| 7,664 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1801
| 2021-01-23T18:18:08 |
{"gard": ["10149"], "mesh": ["C538128"], "omim": ["211350"], "umls": ["C0432239"]}
|
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
## Epidemiology
So far, around nine families have been described in the literature, together with a few sporadic cases.
## Clinical description
Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy.
## Etiology
Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance.
## Genetic counseling
Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive.
*[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
|
Mutilating hereditary sensory neuropathy with spastic paraplegia
|
c1850395
| 7,665 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139578
| 2021-01-23T17:00:40 |
{"mesh": ["C564948"], "omim": ["256840"], "umls": ["C1850395"], "icd-10": ["G60.8"], "synonyms": ["Mutilating HSAN with spastic paraplegia"]}
|
Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.
.
*[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
|
Rumination disorder
|
c0154575
| 7,666 |
gard
|
https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder
| 2021-01-18T17:57:51 |
{"mesh": ["D019959"], "umls": ["C0154575"], "synonyms": ["Rumination syndrome"]}
|
A number sign (#) is used with this entry because it represents what has historically been considered a gene cluster on chromosome 5q31. The 22 tandemly arranged genes within this cluster, PCDHGA1 (606288), PCDHGA2 (606289), PCDHGA3 (606290), PCDHGA4 (606291), PCDHGA5 (606292), PCDHGA6 (606293), PCDHGA7 (606294), PCDHGA8 (606295), PCDHGA9 (606296), PCDHGA10 (606297), PCDHGA11 (606298), PCDHGA12 (603059), PCDHGB1 (606299), PCDHGB2 (606300), PCDHGB3 (606301), PCDHGB4 (603058), PCDHGB5 (606302), PCDHGB6 (606303), PCDHGB7 (606304), PCDHGC3 (603627), PCDHGC4 (606305), and PCDHGC5 (606306), function as 'variable' exons that are individually spliced to a downstream constant region (PCDHGCT) to form distinct PCDHG transcripts.
Description
Cadherins are calcium-dependent cell-cell adhesion molecules, and protocadherins constitute a subfamily of nonclassic cadherins. The PCDHG gene cluster encodes a family of protocadherins. Multiple PCDHG mRNAs are produced by splicing a single variable exon to 3 constant region exons. Each variable exon encodes the extracellular and transmembrane domains of the protocadherin protein, and the constant region exons encode the intracellular domain (Wu et al., 2001).
Cloning and Expression
By EST database searching for cadherin-like sequences, Wu and Maniatis (1999) identified 52 novel genes organized into 3 closely linked tandem clusters, alpha (604966), beta (604967), and gamma, on human chromosome 5q31. A distinct large, uninterrupted exon of approximately 2,400 nucleotides encodes the 6 N-terminal extracellular domains and the transmembrane domain of each protocadherin. The C termini of the PCDHA and PCDHG proteins are identical within each cluster and are encoded by 3 small exons located downstream from each array of N-terminal exons. Each large exon is independently spliced to the first exon encoding the intracellular domain. Wu and Maniatis (1999) denoted the extracellular portion as the variable region and the cytoplasmic portion as the constant region. In contrast to the PCDHA and PCDHG clusters, the PCDHB gene cluster does not have a downstream constant region, and the C-terminal cytoplasmic domains of PCDHB proteins are therefore encoded by the single-exon PCDHB genes (Vanhalst et al., 2001). Wu and Maniatis (1999) proposed 4 models to explain protocadherin gene regulation and noted that several neurologic disorders map to chromosome 5q31.
Wu and Maniatis (1999) determined that the PCDHG cluster contains at least 22 genes. Based on sequence similarities, the PCDHG cluster could be divided into subfamilies A, B, and C. In general, the N-terminal extracellular and transmembrane domains of PCDHG proteins are similar to those of PCDHA and PCDHB proteins. The exons encoding the variable regions of the PCDHGC proteins are distinct from those encoding the PCDHGA and PCDHGB variable regions and are located relatively far from the PCDHGA and PCDHGB variable exons. PCDHGC variable exons are more closely related to the C-type protocadherins in the PCDHA cluster. The cytoplasmic regions of the PCDHA and PCDHG proteins are distinct, although both share a similarly located lysine-rich motif. The first 2 exons of the PCDHA constant region encode 2 PXXP motifs, a putative SH3 protein-binding site, whereas those of the PCDHG constant region do not.
By in situ hybridization using a probe directed against the Pcdhg common exons, Wang et al. (2002) found strong Pcdhg expression in the central and peripheral nervous systems of embryonic mice, with weaker expression in meninges and skeletal muscle. In brain, broad Pcdhg expression persisted into adulthood, with highest levels in cortex, hippocampus, and cerebellum. Using probes directed against Pcdhg variable exons, Wang et al. (2002) found that individual neurons expressed subsets of Pcdhg genes. Western blot analysis of fractionated brain lysates showed that Pcdhg proteins were present in synaptosomes and enriched in the postsynaptic density fraction.
By in situ hybridization and PCR analysis, Zou et al. (2007) found that some Pcdha and Pcdhg isoforms were widely expressed in specific cell types throughout various rat brain regions and spinal cord. In most central nervous system regions, labeling with a constant region probe was stronger and appeared in more cells than labeling with individual variable exon probes, consistent with splicing of variable exons to a common set of constant exons. However, in some cases, such as cerebellum for the PCDHA cluster, signals from the constant region probe were not much stronger than those from individual variable exon probes, suggesting expression of variable-only isoforms.
### PCDHG Antisense Transcripts
A cis-antisense gene pair is defined as a pair of genes residing on opposite strands in the same locus with at least 1 exon of one gene overlapping at least 1 exon of the other gene. Cis-antisense transcripts function in gene regulation at both the transcriptional and posttranscriptional levels. By in silico analysis of the PCDH gene clusters, Lipovich et al. (2006) identified 12 cis-antisense transcriptional units. Those with greatest EST support were anti-PCDHA12 (606318), anti-PCDHB3 (606329), and anti-PCDH5 pseudogene, which is located in the PCDHG gene cluster. All appeared to be noncoding. These antisense transcripts were conserved in chimpanzee and rhesus, but not in mouse. PCR analysis verified expression of these antisense transcripts in adult and fetal human brain and in rhesus brain, and the presence of antisense transcripts was associated with significantly reduced sense expression levels across all orthologs.
Gene Structure
Wu et al. (2001) determined that the PCDHG gene cluster spans about 300 kb and contains 22 genes, which function as variable first exons, followed by 3 small constant region exons. By comparative sequence analysis of human and mouse PCDH gene clusters, Wu et al. (2001) determined that there are high ratios of CpG dinucleotide islands near the 5-prime ends of each PCDH variable region exon. Their results indicated that each variable region exon has its own promoter, which is highly conserved between orthologous variable region exons in mouse and human. They also found that regions 5-prime of the PCDHGC variable region exons have large conserved segments. In addition, the regions downstream of the last C-type variable region exons in the alpha and gamma clusters, PCDHAC2 (606321) and PCDHGC5, respectively, are also conserved.
Tasic et al. (2002) showed that each PCDH variable exon is preceded by a promoter and that promoter choice determines which variable exon is included in a PCDH mRNA. In addition, they provided evidence that alternative splicing of variable exons within a gene cluster occurs via a cis-splicing mechanism. However, virtually every variable exon can engage in trans-splicing with constant exons from another cluster, albeit at a far lower level.
Gene Function
Lefebvre et al. (2012) found that deletion of all 22 Pcdh genes in the mouse gamma-subcluster (Pcdhg genes) disrupts self-avoidance of dendrites in retinal starburst amacrine cells (SACs) and cerebellar Purkinje cells. Further genetic analysis of the SACs showed that Pcdhg proteins act cell-autonomously during development, and that replacement of the 22 Pcdhg proteins with a single isoform restores self-avoidance. Moreover, expression of the same single isoform in all SACs decreased interactions among dendrites of neighboring SACs (heteroneuronal interactions). These results suggested that homophilic Pcdhg interactions between 'sibling neurites' (isoneuronal interactions) generate a repulsive signal that leads to self-avoidance. In this model, heteroneuronal interactions are normally permitted because dendrites seldom encounter a matched set of Pcdhg proteins unless they emanate from the same soma. Lefebvre et al. (2012) concluded that in many respects, their results mirrored those reported for Dscam1 (Down syndrome cell adhesion molecule; 602523) in Drosophila: this complex gene encodes thousands of recognition molecules that exhibit stochastic expression and isoform-specific interactions, and mediate both self-avoidance and self/nonself discrimination. Although Dscam and Pcdh proteins share no sequence homology, they seem to underlie similar strategies for endowing neurons with distinct molecular identities and patterning their arborizations.
Mountoufaris et al. (2017) showed that the PCDH-alpha (604966), PCDH-beta (604967), and PCDH-gamma gene clusters functionally cooperate to provide individual mouse olfactory sensory neurons with the cell surface diversity required for their assembly into distinct glomeruli in the olfactory bulb. Although deletion of individual Pcdh clusters had subtle phenotypic consequences, the loss of all 3 clusters led to a severe axonal arborization defect and loss of self-avoidance. By contrast, when endogenous Pcdh diversity is overridden by the expression of a single-tricluster gene repertoire (alpha and beta and gamma), olfactory sensory neuron axons fail to converge to form glomeruli, likely owing to contact-mediated repulsion between axons expressing identical combinations of Pcdh isoforms.
Mapping
By genomic sequence analysis, Wu and Maniatis (1999) mapped the PCDHG gene cluster to chromosome 5q31.
Animal Model
Wang et al. (2002) found that deletion of the entire Pcdhg region in mice did not alter early steps in neuronal migration, axon outgrowth, and synapse formation. However, at late embryonic stages, mice lacking Pcdhg showed dramatic neurodegeneration leading to neonatal death. Many interneurons were lost in mutant spinal cord, but sensory and motor neurons were relatively spared. In culture, mutant spinal cord neurons differentiated and formed synapses, but then died, whereas mutant hippocampal neurons flourished. Wang et al. (2002) concluded that the PCDHG genes are required for survival of specific neuronal subtypes.
*[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
|
PROTOCADHERIN-GAMMA GENE CLUSTER
|
None
| 7,667 |
omim
|
https://www.omim.org/entry/604968
| 2019-09-22T16:11:40 |
{"omim": ["604968"], "synonyms": ["Alternative titles", "PCDH-GAMMA GENE CLUSTER"]}
|
Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus). TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene. Treatment may involve surgical correction and physical 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
|
Trismus-pseudocamptodactyly syndrome
|
c0265226
| 7,668 |
gard
|
https://rarediseases.info.nih.gov/diseases/2621/trismus-pseudocamptodactyly-syndrome
| 2021-01-18T17:57:17 |
{"mesh": ["C535857"], "omim": ["158300"], "umls": ["C0265226"], "orphanet": ["3377"], "synonyms": ["Hecht syndrome", "Dutch-Kentucky syndrome", "Distal arthrogryposis type 7", "Arthrogryposis distal type 7"]}
|
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (September 2015) (Learn how and when to remove this template message)
Status marmoratus is a congenital condition due to maldevelopment of the corpus striatum associated with choreoathetosis, in which the striate nuclei have a marble-like appearance caused by altered myelination in the putamen, caudate, and thalamus (there are bilateral hyperdensities restricted to the thalamus). This results from acute total asphyxia in the basal nucleus of full-term infants. It is associated with athetoid cerebral palsy and spastic quadriplegia.[1][2]
## References[edit]
1. ^ "Definition: 'Status Marmoratus'". MediLexicon. Lippincott Williams & Wilkins. 2006. Retrieved 8 May 2014.
2. ^ "Status Marmoratus". TheFreeDictionary. Farlex, Inc. 2014. Retrieved 8 May 2014.
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
|
Status marmoratus
|
c0266487
| 7,669 |
wikipedia
|
https://en.wikipedia.org/wiki/Status_marmoratus
| 2021-01-18T18:47:03 |
{"mesh": ["D009069"], "umls": ["C0266487"], "wikidata": ["Q7604531"]}
|
Hearing loss caused by an inner ear or vestibulocochlear nerve defect
Sensorineural hearing loss
Cross section of the cochlea.
SpecialtyOtorhinolaryngology
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss. SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat.
Sensory hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells.[disputed – discuss] Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including infection, and ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Exposure to a single very loud noise such as a gun shot or bomb blast can cause noise-induced hearing loss. Using headphones at high volume over time, or being in loud environments regularly, such as a loud workplace, sporting events, concerts, and using noisy machines can also be a risk for noise-induced hearing loss.
Neural, or "retrocochlear", hearing loss occurs because of damage to the cochlear nerve (CVIII). This damage may affect the initiation of the nerve impulse in the cochlear nerve or the transmission of the nerve impulse along the nerve into the brainstem.
Most cases of SNHL present with a gradual deterioration of hearing thresholds occurring over years to decades. In some, the loss may eventually affect large portions of the frequency range. It may be accompanied by other symptoms such as ringing in the ears (tinnitus) and dizziness or lightheadedness (vertigo). The most common kind of sensorineural hearing loss is age-related (presbycusis), followed by noise-induced hearing loss (NIHL).
Frequent symptoms of SNHL are loss of acuity in distinguishing foreground voices against noisy backgrounds, difficulty understanding on the telephone, some kinds of sounds seeming excessively loud or shrill, difficulty understanding some parts of speech (fricatives and sibilants), loss of directionality of sound (especially with high frequency sounds), perception that people mumble when speaking, and difficulty understanding speech. Similar symptoms are also associated with other kinds of hearing loss; audiometry or other diagnostic tests are necessary to distinguish sensorineural hearing loss.
Identification of sensorineural hearing loss is usually made by performing a pure tone audiometry (an audiogram) in which bone conduction thresholds are measured. Tympanometry and speech audiometry may be helpful. Testing is performed by an audiologist.
There is no proven or recommended treatment or cure for SNHL; management of hearing loss is usually by hearing strategies and hearing aids. In cases of profound or total deafness, a cochlear implant is a specialised hearing aid that may restore a functional level of hearing. SNHL is at least partially preventable by avoiding environmental noise, ototoxic chemicals and drugs, and head trauma, and treating or inoculating against certain triggering diseases and conditions like meningitis.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetic
* 2.2 Congenital
* 2.3 Presbycusis
* 2.3.1 Noise
* 2.3.2 Disease or disorder
* 2.3.3 Ototoxic and neurotoxic drugs and chemicals
* 2.3.4 Head trauma
* 2.3.5 Perinatal conditions
* 2.3.6 Iodine deficiency / Hypothyroidism
* 2.3.7 Brain stroke
* 3 Pathophysiology
* 3.1 Cochlear dead regions in sensory hearing loss
* 3.1.1 Cochlear hair cells
* 3.1.1.1 Hair cell damage
* 3.2 Neural tuning curves
* 3.2.1 Frequency selectivity
* 3.2.2 IHC vs OHC hearing loss
* 3.3 Dead region audiometry
* 3.3.1 Pure tone audiometry (PTA)
* 3.3.2 Psychoacoustic tuning curves (PTC) and threshold equalizing noise (TEN) tests
* 3.3.3 Perceptual consequences of a dead region
* 3.4 Vestibulocochlear nerve pathology
* 4 Diagnosis
* 4.1 Case history
* 4.2 Otoscopy
* 4.3 Differential testing
* 4.4 Tympanometry
* 4.5 Audiometry
* 4.6 Magnetic resonance imaging
* 5 Prevention
* 6 Treatment
* 7 Research
* 7.1 Pharmaceuticals
* 7.2 Stem cell and gene therapy
* 8 Sudden sensorineural hearing loss
* 8.1 Presentation
* 8.2 Diagnosis
* 8.3 Causes
* 8.4 Treatment
* 8.5 Epidemiology
* 9 See also
* 10 Notes
* 11 References
* 12 External links
## Signs and symptoms[edit]
Since the inner ear is not directly accessible to instruments, identification is by patient report of the symptoms and audiometric testing. Of those who present to their doctor with sensorineural hearing loss, 90% report having diminished hearing, 57% report having a plugged feeling in ear, and 49% report having ringing in ear (tinnitus). About half report vestibular (vertigo) problems.
For a detailed exposition of symptoms useful for screening, a self-assessment questionnaire was developed by the American Academy of Otolaryngology, called the Hearing Handicap Inventory for Adults (HHIA). It is a 25-question survey of subjective symptoms.[1]
## Causes[edit]
Sensorineural hearing loss may be genetic or acquired (i.e. as a consequence of disease, noise, trauma, etc.). People may have a hearing loss from birth (congenital) or the hearing loss may come on later. Many cases are related to old age (age-related).
### Genetic[edit]
Hearing loss can be inherited. More than 40 genes have been implicated in the cause of deafness.[2] There are 300 syndromes with related hearing loss, and each syndrome may have causative genes.
Recessive, dominant, X-linked, or mitochondrial genetic mutations can affect the structure or metabolism of the inner ear. Some may be single point mutations, whereas others are due to chromosomal abnormalities. Some genetic causes give rise to a late onset hearing loss. Mitochondrial mutations can cause SNHL i.e. m.1555A>G, which makes the individual sensitive to the ototoxic effects of aminoglycoside antibiotics.
* The most common cause of recessive genetic congenital hearing impairment in developed countries is DFNB1, also known as Connexin 26 deafness or GJB2-related deafness.
* The most common syndromic forms of hearing impairment include (dominant) Stickler syndrome and Waardenburg syndrome, and (recessive) Pendred syndrome and Usher syndrome.
* Mitochondrial mutations causing deafness are rare: MT-TL1 mutations cause MIDD (Maternally inherited deafness and diabetes) and other conditions which may include deafness as part of the picture.
* TMPRSS3 gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochleae and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. It was also identified as a tumor associated gene that is overexpressed in ovarian tumors.
* Charcot–Marie–Tooth disease[3] an inherited neurological disorder with delayed onset that can affect the ears as well as other organs. The hearing loss in this condition is often ANSD (auditory neuropathy spectrum disorder) a neural cause of hearing loss.
* Muckle–Wells syndrome, a rare inherited autoinflammatory disorder, can lead to hearing loss.
* Autoimmune disease: although probably rare, it is possible for autoimmune processes to target the cochlea specifically, without symptoms affecting other organs. Granulomatosis with polyangiitis, an autoimmune condition, may precipitate hearing loss.
### Congenital[edit]
* Infections:
* Congenital rubella syndrome, CRS, results from transplacental transmission of the rubella virus during pregnancy. CRS has been controlled by universal vaccination (MMR or MMRV vaccine).
* Cytomegalovirus (CMV) infection is the most common cause of progressive sensorineural hearing loss in children. It is a common viral infection contracted by contact with infected bodily fluids such as saliva or urine and easily transmitted in nurseries and thus from toddlers to expectant mothers. CMV infection during pregnancy can affect the developing foetus and lead to learning difficulties as well as hearing loss.
* Toxoplasmosis, a parasitic disease affecting 23% of the population in the U.S., can cause sensorineural deafness to the fetus in utero.
* Hypoplastic auditory nerves or abnormalities of the cochlea. Abnormal development of the inner ear can occur in some genetic syndromes such as LAMM syndrome (labyrinthine aplasia, microtia and microdontia), Pendred syndrome, branchio-oto-renal syndrome, CHARGE syndrome
* GATA2 deficiency, a grouping of several disorders caused by common defect, viz., familial or sporadic inactivating mutations in one of the two parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming stem cells. In consequence of these mutations, cellular levels of GATA2 are deficient and individuals develop over time hematological, immunological, lymphatic, and/or other disorders. GATA2 deficiency-induced abnormalities in the lymphatic system are proposed to be responsible for a failure in generating the perilymphatic space around the inner ear's semicircular canals, which in turn underlies the development of sensorineural hearing loss.[4][5]
### Presbycusis[edit]
Main article: Presbycusis
Progressive age-related loss of hearing acuity or sensitivity can start as early as age 18, primarily affecting the high frequencies, and men more than women.[6] Such losses may not become apparent until much later in life. Presbycusis is by far the dominant cause of sensorineural hearing loss in industrialized societies. A study conducted in Sudan, with a population free from loud noise exposures, found significantly less cases of hearing loss when compared with age-matched cases from an industrialized country.[7] Similar findings were reported by a study conducted of a population from Easter island, which reported worse hearing among those that spent time in industrialized countries when compared with those that never left the island.[8] Researchers have argued that factors other than differences in noise exposure, such as genetic make up, might also have contributed to the findings.[9] Hearing loss that worsens with age but is caused by factors other than normal aging, such as noise-induced hearing loss, is not presbycusis, although differentiating the individual effects of multiple causes of hearing loss can be difficult. One in three persons have significant hearing loss by age 65; by age 75, one in two. Age-related hearing loss is neither preventable nor reversible.
#### Noise[edit]
Main article: Noise-induced hearing loss
Most people living in modern society suffer from some degree of progressive sensorineural (i.e. permanent) noise-induced hearing loss (NIHL) resulting from overloading and damaging the sensory or neural apparatus of hearing in the inner ear. NIHL is typically a drop-out or notch centered at 4000 Hz. Both intensity (SPL) and duration of exposure, and repetitive exposure to unsafe levels of noise contribute to cochlear damage that results in hearing loss. The louder the noise is, the shorter the safe amount of exposure is. NIHL can be either permanent or temporary, called a threshold shift. Unsafe levels of noise can be as little as 70 dB (about twice as loud as normal conversation) if there is prolonged (24-hour) or continuous exposure. 125 dB (a loud rock concert is ~120 dB) is the pain level; sounds above this level cause instant and permanent ear damage.
Noise and ageing are the primary causes of presbycusis, or age-related hearing loss, the most common kind of hearing loss in industrial society.[10][citation needed] The dangers of environmental and occupational noise exposure are widely recognized. Numerous national and international organizations have established standards for safe levels of exposure to noise in industry, the environment, military, transportation, agriculture, mining and other areas.[Note 1] Sound intensity or sound pressure level (SPL) is measured in decibels (dB). For reference:
db Level Example
45 dB Ambient noise level around the home
60 dB Quiet office
60–65 dB Normal conversation
70 dB City street noise at 25'[clarification needed] or average TV audio
80 dB Noisy office
95–104 dB Nightclub dance floor
120 dB Close-by thunder or a loud rock concert
150–160 dB Gunshot from a handheld gun
An increase of 6 dB represents a doubling of the SPL, or energy of the sound wave, and therefore its propensity to cause ear damage. Because human ears hear logarithmically, not linearly, it takes an increase of 10 dB to produce a sound that is perceived to be twice as loud. Ear damage due to noise is proportional to sound intensity, not perceived loudness, so it's misleading to rely on subjective perception of loudness as an indication of the risk to hearing, i.e. it can significantly underestimate the danger.
While the standards differ moderately in levels of intensity and duration of exposure considered safe, some guidelines can be derived.[Note 2]
The safe amount of exposure is reduced by a factor of 2 for every exchange rate (3 dB for NIOSH standard or 5 dB for OSHA standard) increase in SPL. For example, the safe daily exposure amount at 85 dB (90 dB for OSHA) is 8 hours, while the safe exposure at 94 dB(A) (nightclub level) is only 1 hour. Noise trauma can also cause a reversible hearing loss, called a temporary threshold shift. This typically occurs in individuals who are exposed to gunfire or firecrackers, and hear ringing in their ears after the event (tinnitus).
* Ambient environmental noise: Populations living near airports, railyards and train stations, freeways and industrial areas are exposed to levels of noise typically in the 65 to 75 dBA range. If lifestyles include significant outdoor or open window conditions, these exposures over time can degrade hearing. U.S. Dept. of Housing and Urban Development sets standards for noise impact in residential and commercial construction zones. HUD’s noise standards may be found in 24 CFR Part 51, Subpart B. Environmental noise above 65 dB defines a noise-impacted area.
* Personal audio electronics: Personal audio equipment such as iPods (iPods often reach 115 decibels or higher), can produce powerful enough sound to cause significant NIHL.[11]
* Acoustic trauma: Exposure to a single event of extremely loud noise (such as explosions) can also cause temporary or permanent hearing loss. A typical source of acoustic trauma is a too-loud music concert.
* Workplace noise: The OSHA standards 1910.95 General Industry Occupational Noise Exposure and 1926.52 Construction Industry Occupational Noise Exposure identify the level of 90 dB(A) for 8 hour exposure as the level necessary to protect workers from hearing loss.
#### Disease or disorder[edit]
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* Inflammatory
* Suppurative labyrinthitis or otitis interna (inflammation of the inner ear)
* Diabetes mellitus
Main article: Diabetes mellitus and deafness
A recent study found that hearing loss is twice as common in people with diabetes as it is in those who don't have the disease. Also, of the 86 million adults in the U.S. who have prediabetes, the rate of hearing loss is 30 percent higher than in those with normal blood glucose. It has not been established how diabetes is related to hearing loss. It is possible that the high blood glucose levels associated with diabetes cause damage to the small blood vessels in the inner ear, similar to the way in which diabetes can damage the eyes and the kidneys. Similar studies have shown a possible link between that hearing loss and neuropathy (nerve damage).
* Tumor
* Cerebellopontine angle tumour (junction of the pons and cerebellum) – The cerebellopontine angle is the exit site of both the facial nerve(CN7) and the vestibulocochlear nerve(CN8). Patients with these tumors often have signs and symptoms corresponding to compression of both nerves.
* Acoustic neuroma (vestibular schwannoma) – benign neoplasm of Schwann cells affecting the vestibulocochlear nerve
* Meningioma – benign tumour of the pia and arachnoid mater
* Ménière's disease – causes sensorineural hearing loss in the low frequency range (125 Hz to 1000 Hz). Ménière's disease is characterized by sudden attacks of vertigo, lasting minutes to hours preceded by tinnitus, aural fullness, and fluctuating hearing loss. It is relatively rare and commonly over diagnosed.
* Bacterial meningitis e.g. pneumococcal, meningococcal, haemophilus influenzae may damage the cochlea – Hearing loss is one of the most common after-effects of bacterial meningitis. It has been estimated that 30% of bacterial meningitis cases result in mild to profound hearing loss. Children are most at risk: seventy percent of all bacterial meningitis occurs in young children under the age of five.
* Viral
* AIDS and ARC patients frequently experience auditory system anomalies.
* Mumps(epidemic parotitis) may result in profound sensorineural hearing loss (90 dB or more), unilaterally (one ear) or bilaterally (both ears).
* Measles may result in auditory nerve damage but more commonly gives a mixed (sensorineural plus conductive) hearing loss, and can be bilaterally.
* Ramsay Hunt syndrome type II (herpes zoster oticus)
* Bacterial
* Syphilis is commonly transmitted from pregnant women to their fetuses, and about a third of the infected children will eventually become deaf.
#### Ototoxic and neurotoxic drugs and chemicals[edit]
Main article: ototoxicity
Some over-the-counter as well as prescription drugs and certain industrial chemicals are ototoxic. Exposure to these can result in temporary or permanent hearing loss.
Some medications cause irreversible damage to the ear, and are limited in their use for this reason. The most important group is the aminoglycosides (main member gentamicin). A rare mitochondrial mutation, m.1555A>G, can increase an individual's susceptibility to the ototoxic effect of aminoglycosides. Long term hydrocodone (Vicodin) abuse is known to cause rapidly progressing sensorineural hearing loss, usually without vestibular symptoms. Methotrexate, a chemotherapy agent, is also known to cause hearing loss. In most cases hearing loss does not recover when the drug is stopped. Paradoxically, methotrexate is also used in the treatment of autoimmune-induced inflammatory hearing loss.
Various other medications may reversibly degrade hearing. This includes loop diuretics, sildenafil (Viagra), high or sustained dosing of NSAIDs (aspirin, ibuprofen, naproxen, and various prescription drugs: celecoxib, etc.), quinine, and macrolide antibiotics (erythromycin, etc.). Cytotoxic agents such as carboplatinum, used to treat malignancies can give rise to a dose dependent SNHL, as can drugs such as desferrioxamine, used for haematological disorders such as thalassaemia; patients prescribed these drugs need to have hearing monitored.
Prolonged or repeated environmental or work-related exposure to ototoxic chemicals can also result in sensorineural hearing loss. Some of these chemicals are:
* butyl nitrite – chemical used recreationally known as 'poppers'
* carbon disulfide – a solvent used as a building block in many organic reactions
* styrene, an industrial chemical precursor of polystyrene, a plastic
* carbon monoxide, a poisonous gas resulting from incomplete combustion
* heavy metals: tin, lead, manganese, mercury
* hexane, an industrial solvent and one of the significant constituents of gasoline
* ethylbenzene, an industrial solvent used in the production of styrene
* toluene and xylene, highly poisonous petrochemical solvents. Toluene is a component of high-octane gasoline; xylene is used in the production of polyester fibers and resins.
* trichloroethylene, an industrial degreasing solvent
* Organophosphate pesticides
#### Head trauma[edit]
There can be damage either to the ear itself or to the central auditory pathways that process the information conveyed by the ears. People who sustain head injury are susceptible to hearing loss or tinnitus, either temporary or permanent. Contact sports like football (U.S. NFL), hockey and cricket have a notable incidence of head injuries (concussions). In one survey of retired NFL players, all of whom reported one or more concussions during their playing careers, 25% had hearing loss and 50% had tinnitus.[citation needed]
#### Perinatal conditions[edit]
These are much more common in premature babies, particularly those under 1500 g at birth. Premature birth can be associated with problems that result in sensorineural hearing loss such as anoxia or hypoxia (poor oxygen levels), jaundice, intracranial haemorrhages, meningitis. Fetal alcohol syndrome is reported to cause hearing loss in up to 64% of infants born to alcoholic mothers, from the ototoxic effect on the developing fetus, plus malnutrition during pregnancy from the excess alcohol intake.
#### Iodine deficiency / Hypothyroidism[edit]
Iodine deficiency and endemic hypothyroidism are associated with hearing loss.[12] If a pregnant mother has insufficient iodine intake during pregnancy it affects the development of the inner ear in the foetus leading to sensorineural deafness. This occurs in certain areas of the world, such as the Himalayas, where iodine is deficient in the soil and thus the diet. In these areas there is a high incidence of endemic goitre. This cause of deafness is prevented by adding iodine to salt.
#### Brain stroke[edit]
Brain stroke in a region affecting auditory function such as a posterior circulation infarct has been associated with deafness.
## Pathophysiology[edit]
Sensory hearing loss is caused by abnormal structure or function of the hair cells of the organ of Corti in the cochlea.[disputed – discuss] Neural hearing impairments are consequent upon damage to the eighth cranial nerve (the vestibulocochlear nerve) or the auditory tracts of the brainstem. If higher levels of the auditory tract are affected this is known as central deafness. Central deafness may present as sensorineural deafness but should be distinguishable from the history and audiological testing.
### Cochlear dead regions in sensory hearing loss[edit]
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Hearing impairment may be associated with damage to the hair cells in the cochlea. Sometimes there may be complete loss of function of inner hair cells (IHCs) over a certain region of the cochlea; this is called a "dead region". The region can be defined in terms of the range of characteristic frequencies (CFs) of the IHCs and/or neurons immediately adjacent to the dead region.
#### Cochlear hair cells[edit]
Figure 3: Cross-section of the cochlea.
Outer hair cells (OHCs) contribute to the structure of the Organ of Corti, which is situated between the basilar membrane and the tectorial membrane within the cochlea (See Figure 3). The tunnel of corti, which runs through the Organ of Corti, divides the OHCs and the inner hair cells (IHCs). OHCs are connected to the reticular laminar and the Deiters’ cells. There are roughly twelve thousand OHCs in each human ear, and these are arranged in up to five rows. Each OHC has small tufts of 'hairs', or cilia, on their upper surface known as stereocilia, and these are also arranged into rows which are graded in height. There are approximately 140 stereocilia on each OHC.[13]
The fundamental role of the OHCs and the IHCs is to function as sensory receptors. The main function of the IHCs is to transmit sound information via afferent neurons. They do this by transducing mechanical movements or signals into neural activity. When stimulated, the stereocilia on the IHCs move, causing a flow of electric current to pass through the hair cells. This electric current creates action potentials within the connected afferent neurons.
OHCs are different in that they actually contribute to the active mechanism of the cochlea. They do this by receiving mechanical signals or vibrations along the basilar membrane, and transducing them into electrochemical signals. The stereocilia found on OHCs are in contact with the tectorial membrane. Therefore, when the basilar membrane moves due to vibrations, the stereocilia bend. The direction in which they bend, dictates the firing rate of the auditory neurons connected to the OHCs.[14]
The bending of the stereocilia towards the basal body of the OHC causes excitation of the hair cell. Thus, an increase in firing rate of the auditory neurons connected to the hair cell occurs. On the other hand, the bending of the stereocilia away from the basal body of the OHC causes inhibition of the hair cell. Thus, a decrease in firing rate of the auditory neurons connected to the hair cell occurs. OHCs are unique in that they are able to contract and expand (electromotility). Therefore, in response to the electrical stimulations provided by the efferent nerve supply, they can alter in length, shape and stiffness. These changes influence the response of the basilar membrane to sound.[13][14] It is therefore clear that the OHCs play a major role in the active processes of the cochlea.[13] The main function of the active mechanism is to finely tune the basilar membrane, and provide it with a high sensitivity to quiet sounds. The active mechanism is dependent on the cochlea being in good physiological condition. However, the cochlea is very susceptible to damage.[14]
##### Hair cell damage[edit]
SNHL is most commonly caused by damage to the OHCs and the IHCs.[disputed – discuss] There are two methods by which they might become damaged. Firstly, the entire hair cell might die. Secondly, the stereocilia might become distorted or destroyed. Damage to the cochlea can occur in several ways, for example by viral infection, exposure to ototoxic chemicals, and intense noise exposure. Damage to the OHCs results in either a less effective active mechanism, or it may not function at all. OHCs contribute to providing a high sensitivity to quiet sounds at a specific range of frequencies (approximately 2–4 kHz). Thus, damage to the OHCs results in the reduction of sensitivity of the basilar membrane to weak sounds. Amplification to these sounds is therefore required, in order for the basilar membrane to respond efficiently. IHCs are less susceptible to damage in comparison to the OHCs. However, if they become damaged, this will result in an overall loss of sensitivity.[14]
### Neural tuning curves[edit]
#### Frequency selectivity[edit]
Figure 4: Neural tuning curve for normal hearing.
The traveling wave along the basilar membrane peaks at different places along it, depending on whether the sound is low or high frequency. Due to the mass and stiffness of the basilar membrane, low frequency waves peak in the apex, while high frequency sounds peak in the basal end of the cochlea.[13] Therefore, each position along the basilar membrane is finely tuned to a particular frequency. These specifically tuned frequencies are referred to as characteristic frequencies (CF).[14]
If a sound entering the ear is displaced from the characteristic frequency, then the strength of response from the basilar membrane will progressively lessen. The fine tuning of the basilar membrane is created by the input of two separate mechanisms. The first mechanism being a linear passive mechanism, which is dependent on the mechanical structure of the basilar membrane and its surrounding structures. The second mechanism is a non-linear active mechanism, which is primarily dependent on the functioning of the OHCs, and also the general physiological condition of the cochlea itself. The base and apex of the basilar membrane differ in stiffness and width, which cause the basilar membrane to respond to varying frequencies differently along its length. The base of the basilar membrane is narrow and stiff, resulting in it responding best to high frequency sounds. The apex of the basilar membrane is wider and much less stiff in comparison to the base, causing it to respond best to low frequencies.[14]
This selectivity to certain frequencies can be illustrated by neural tuning curves. These demonstrate the frequencies a fiber responds to, by showing threshold levels (dB SPL) of auditory nerve fibers as a function of different frequencies. This demonstrates that auditory nerve fibers respond best, and hence have better thresholds at the fiber's characteristic frequency and frequencies immediately surrounding it. The basilar membrane is said to be ‘sharply tuned’ due to the sharp ‘V’ shaped curve, with its ‘tip’ centered at the auditory fibers characteristic frequency. This shape shows how few frequencies a fiber responds to. If it were a broader ‘V’ shape, it would be responding to more frequencies (See Figure 4).[13]
#### IHC vs OHC hearing loss[edit]
Figure 5: Neural tuning curve for OHC loss. Adapted from.[14]
Figure 6: Neural tuning curve for OHC front row loss and IHC loss. Adapted from.[14]
A normal neural tuning curve is characterised by a broadly tuned low frequency ‘tail’, with a finely tuned middle frequency ‘tip’. However, where there is partial or complete damage to the OHCs, but with unharmed IHCs, the resulting tuning curve would show the elimination of sensitivity at the quiet sounds. I.e. where the neural tuning curve would normally be most sensitive (at the ‘tip’) (See Figure 5).[14]
Where both the OHCs and the IHCs are damaged, the resulting neural tuning curve would show the elimination of sensitivity at the ‘tip'. However, due to IHC damage, the whole tuning curve becomes raised, giving a loss of sensitivity across all frequencies (See Figure 6). It is only necessary for the first row of OHCs to be damaged for the elimination of the finely tuned ‘tip’ to occur. This supports the idea that the incidence of OHC damage and thus a loss of sensitivity to quiet sounds, occurs more than IHC loss.[14]
When the IHCs or part of the basilar membrane are damaged or destroyed, so that they no longer function as transducers, the result is a ‘dead region’. Dead regions can be defined in terms of the characteristic frequencies of the IHC, related to the specific place along the basilar membrane where the dead region occurs. Assuming that there has been no shift in the characteristic frequencies relating to certain regions of the basilar membrane, due to the damage of OHCs. This often occurs with IHC damage. Dead regions can also be defined by the anatomical place of the non-functioning IHC (such as an “apical dead region”), or by the characteristic frequencies of the IHC adjacent to the dead region.[15]
### Dead region audiometry[edit]
#### Pure tone audiometry (PTA)[edit]
Dead regions affect audiometric results, but perhaps not in the way expected. For example, it may be expected that thresholds would not be obtained at the frequencies within the dead region, but would be obtained at frequencies adjacent to the dead region. Therefore, assuming normal hearing exists around the dead region, it would produce an audiogram that has a dramatically steep slope between the frequency where a threshold is obtained, and the frequency where a threshold cannot be obtained due to the dead region.[15]
Figure 7: Response of the basilar membrane to a pure tone.
Figure 8: Response of the basilar membrane to a pure tone, when there is a dead region.
However, it appears that this is not the case. Dead regions cannot be clearly found via PTA audiograms. This may be because although the neurons innervating the dead region, cannot react to vibration at their characteristic frequency. If the basilar membrane vibration is large enough, neurons tuned to different characteristic frequencies such as those adjacent to the dead region, will be stimulated due to the spread of excitation. Therefore, a response from the patient at the test frequency will be obtained. This is referred to as “off-place listening”, and is also known as ‘off-frequency listening’. This will lead to a false threshold being found. Thus, it appears a person has better hearing than they actually do, resulting in a dead region being missed. Therefore, using PTA alone, it is impossible to identify the extent of a dead region (See Figure 7 and 8).[15]
Consequently, how much is an audiometric threshold affected by a tone with its frequency within a dead region? This depends on the location of the dead region. Thresholds at low frequency dead regions, are more inaccurate than those at higher frequency dead regions. This has been attributed to the fact that excitation due to vibration of the basilar membrane spreads upwards from the apical regions of the basilar membrane, more than excitation spreads downwards from higher frequency basal regions of the cochlea. This pattern of the spread of excitation is similar to the ‘upward spread of masking’ phenomenon. If the tone is sufficiently loud to produce enough excitation at the normally functioning area of the cochlea, so that it is above that areas threshold. The tone will be detected, due to off-frequency listening which results in a misleading threshold.[15]
To help to overcome the issue of PTA producing inaccurate thresholds within dead regions, masking of the area beyond the dead region that is being stimulated can be used. This means that the threshold of the responding area is sufficiently raised, so that it cannot detect the spread of excitation from the tone. This technique has led to the suggestion that a low frequency dead region may be related to a loss of 40-50 dB.[16][17] However, as one of the aims of PTA is to determine whether or not there is a dead region, it may be difficult to assess which frequencies to mask without the use of other tests.[15]
Based on research it has been suggested that a low frequency dead region may produce a relatively flat loss, or a very gradually sloping loss towards the higher frequencies. As the dead region will be less detectable due to the upward spread of excitation. Whereas, there may be a more obvious steeply sloping loss at high frequencies for a high frequency dead region. Although it is likely that the slope represents the less pronounced downward spread of excitation, rather than accurate thresholds for those frequencies with non-functioning hair cells. Mid-frequency dead regions, with a small range, appear to have less effect on the patient’s ability to hear in everyday life, and may produce a notch in the PTA thresholds.[15] Although it is clear that PTA is not the best test to identify a dead region.[18]
#### Psychoacoustic tuning curves (PTC) and threshold equalizing noise (TEN) tests[edit]
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Figure 9: Psychoacoustical tuning curve.
Although some debate continues regarding the reliability of such tests,[19] it has been suggested[weasel words]that psychoacoustic tuning curves (PTCs) and threshold-equalising noise (TEN) results may be useful in detecting dead regions, rather than PTA. PTCs are similar to neural tuning curves. They illustrate the level of a masker (dB SPL) tone at threshold, as a function of deviation from center frequency (Hz).[13] They are measured by presenting a fixed low intensity pure tone while also presenting a narrow-band masker, with a varying center frequency. The masker level is varied, so that the level of masker needed to just mask the test signal is found for the masker at each center frequency. The tip of the PTC is where the masker level needed to just mask the test signal is the lowest. For normal hearing people this is when the masker center frequency is closest to the frequency of the test signal (See Figure 9).[18]
In the case of dead regions, when the test signal lies within the boundaries of a dead region, the tip of the PTC will be shifted to the edge of the dead region, to the area that is still functioning and detecting the spread of excitation from the signal. In the case of a low frequency dead region, the tip is shifted upwards indicating a low frequency dead region starting at the tip of the curve. For a high frequency dead region, the tip is shifted downwards from the signal frequency to the functioning area below the dead region.[18] However, the traditional method of obtaining PTCs is not practical for clinical use, and it has been argued[weasel words] that TENs are not accurate enough.[18][19] A fast method for finding PTCs has been developed and it may provide the solution. However, more research to validate this method is required, before it can be accepted clinically.
#### Perceptual consequences of a dead region[edit]
Audiogram configurations are not good indicators of how a dead region will affect a person functionally, mainly due to individual differences.[14] For example, a sloping audiogram is often present with a dead region, due to the spread of excitation. However, the individual may well be affected differently from someone with a corresponding sloped audiogram caused by partial damage to hair cells rather than a dead region. They will perceive sounds differently, yet the audiogram suggests that they have the same degree of loss. Huss and Moore investigated how hearing impaired patients perceive pure tones, and found that they perceive tones as noisy and distorted, more (on average) than a person without a hearing impairment. However, they also found that the perception of tones as being like noise, was not directly related to frequencies within the dead regions, and was therefore not an indicator of a dead region. This therefore suggests that audiograms, and their poor representation of dead regions, are inaccurate predictors of a patient’s perception of pure tone quality.[20]
Research by Kluk and Moore has shown that dead regions may also affect the patient’s perception of frequencies beyond the dead regions. There is an enhancement in the ability to distinguish between tones that differ very slightly in frequency, in regions just beyond the dead regions compared to tones further away. An explanation for this may be that cortical re-mapping has occurred. Whereby, neurons which would normally be stimulated by the dead region, have been reassigned to respond to functioning areas near it. This leads to an over-representation of these areas, resulting in an increased perceptual sensitivity to small frequency differences in tones.[21]
### Vestibulocochlear nerve pathology[edit]
* congenital deformity of the internal auditory canal,
* neoplastic and pseudo-neoplastic lesions, with special detailed emphasis on schwannoma of the eighth cranial nerve (acoustic neuroma),
* non-neoplastic Internal Auditory Canal/CerebelloPontine Angle pathology, including vascular loops,
## Diagnosis[edit]
### Case history[edit]
Before examination, a case history provides guidance about the context of the hearing loss.
* major concern
* pregnancy and childbirth information
* medical history
* development history
* family history
### Otoscopy[edit]
Direct examination of the external canal and tympanic membrane (ear drum) with an otoscope, a medical device inserted into the ear canal that uses light to examine the condition of the external ear and tympanic membrane, and middle ear through the semi-translucent membrane.
### Differential testing[edit]
Differential testing is most useful when there is unilateral hearing loss, and distinguishes conductive from sensorineural loss. These are conducted with a low frequency tuning fork, usually 512 Hz, and contrast measures of air and bone conducted sound transmission.
* Weber test, in which a tuning fork is touched to the midline of the forehead, localizes to the normal ear in people with unilateral sensorineural hearing loss.
* Rinne test, which tests air conduction vs. bone conduction is positive, because both bone and air conduction are reduced equally.
* less common Bing and Schwabach variants of the Rinne test.
* absolute bone conduction (ABC) test.
Table 1. A table comparing sensorineural to conductive hearing loss
Criteria Sensorineural hearing loss Conductive hearing loss
Anatomical site Inner ear, cranial nerve VIII, or central processing centers Middle ear (ossicular chain), tympanic membrane, or external ear
Weber test Sound localizes to normal ear in unilateral SNHL Sound localizes to affected ear (ear with conductive loss) in unilateral cases
Rinne test Positive Rinne; air conduction > bone conduction (both air and bone conduction are decreased equally, but the difference between them is unchanged). Negative Rinne; bone conduction > air conduction (bone/air gap)
Other, more complex, tests of auditory function are required to distinguish the different types of hearing loss. Bone conduction thresholds can differentiate sensorineural hearing loss from conductive hearing loss. Other tests, such as oto-acoustic emissions, acoustic stapedial reflexes, speech audiometry and evoked response audiometry are needed to distinguish sensory, neural and auditory processing hearing impairments.
### Tympanometry[edit]
A tympanogram is the result of a test with a tympanometer. It tests the function of the middle ear and mobility of the eardrum. It can help identify conductive hearing loss due to disease of the middle ear or eardrum from other kinds of hearing loss including SNHL.
### Audiometry[edit]
An audiogram is the result of a hearing test. The most common type of hearing test is pure tone audiometry (PTA). It charts the thresholds of hearing sensitivity at a selection of standard frequencies between 250 and 8000 Hz. There is also high frequency pure tone audiometry which tests frequencies from 8000-20,000 Hz. PTA can be used to differentiate between conductive hearing loss, sensorineural hearing loss and mixed hearing loss. A hearing loss can be described by its degree i.e. mild, moderate, severe or profound, or by its shape i.e. high frequency or sloping, low frequency or rising, notched, U-shaped or 'cookie-bite', peaked or flat.
There are also other kinds of audiometry designed to test hearing acuity rather than sensitivity (speech audiometry), or to test auditory neural pathway transmission (evoked response audiometry).
### Magnetic resonance imaging[edit]
MRI scans can be used to identify gross structural causes of hearing loss. They are used for congenital hearing loss when changes to the shape of the inner ear or nerve of hearing may help diagnosis of the cause of the hearing loss. They are also useful in cases where a tumour is suspected or to determine the degree of damage in a hearing loss caused by bacterial infection or auto-immune disease. Scanning is of no value in age-related deafness.
## Prevention[edit]
Presbycusis is the leading cause of SNHL and is progressive and nonpreventable, and at this time, we do not have either somatic or gene therapy to counter heredity-related SNHL. But other causes of acquired SNHL are largely preventable, especially nosocusis type causes. This would involve avoiding environmental noise, and traumatic noise such as rock concerts and nightclubs with loud music. Use of noise attenuation measures like ear plugs is an alternative, as well as learning about the noise levels one is exposed to. Currently, several accurate sound level measurement apps exist. Reducing exposure time can also help manage risk from loud exposures.
Noise Exposure Limits
## Treatment[edit]
Treatment modalities fall into three categories: pharmacological, surgical, and management. As SNHL is a physiologic degradation and considered permanent, there are as of this time, no approved or recommended treatments.
There have been significant advances in identification of human deafness genes and elucidation of their cellular mechanisms as well as their physiological function in mice.[22][23] Nevertheless, pharmacological treatment options are very limited and clinically unproven.[24] Such pharmaceutical treatments as are employed are palliative rather than curative, and addressed to the underlying cause if one can be identified, in order to avert progressive damage.
Profound or total hearing loss may be amenable to management by cochlear implants, which stimulate cochlear nerve endings directly. A cochlear implant is surgical implantation of a battery powered electronic medical device in the inner ear. Unlike hearing aids, which make sounds louder, cochlear implants do the work of damaged parts of the inner ear (cochlea) to provide sound signals to the brain. These consist of both internal implanted electrodes and magnets and external components.[25] The quality of sound is different than natural hearing but may enable the recipient to better recognize speech and environmental sounds. Because of risk and expense, such surgery is reserved for cases of severe and disabling hearing impairment
Management of sensorineural hearing loss involves employing strategies to support existing hearing such as lip-reading, enhanced communication etc. and amplification using hearing aids. Hearing aids are specifically tuned to the individual hearing loss to give maximum benefit.
## Research[edit]
### Pharmaceuticals[edit]
* Antioxidant vitamins – Researchers at the University of Michigan report that a combination of high doses of vitamins A, C, and E, and Magnesium, taken one hour before noise exposure and continued as a once-daily treatment for five days, was very effective at preventing permanent noise-induced hearing loss in animals.[26]
* Tanakan – a brand name for an international prescription drug extract of Ginkgo biloba. It is classified as a vasodilator. Among its research uses is treatment of sensorineural deafness and tinnitus presumed to be of vascular origin.
* Coenzyme Q10 – a substance similar to a vitamin, with antioxidant properties. It is made in the body, but levels fall with age.[Note 3]
* ebselen, a synthetic drug molecule that mimics glutathione peroxidase (GPx), a critical enzyme in the inner ear that protects it from damage caused by loud sounds or noise [27]
### Stem cell and gene therapy[edit]
Hair cell regeneration using stem cell and gene therapy is years or decades away from being clinically feasible.[28] However, studies are currently underway on the subject, with the first FDA-approved trial beginning in February 2012.[29]
## Sudden sensorineural hearing loss[edit]
Sudden sensorineural hearing loss (SSHL or SSNHL), commonly known as sudden deafness, occurs as an unexplained, rapid loss of hearing—usually in one ear—either at once or over several days. Nine out of ten people with SSHL lose hearing in only one ear. It should be considered a medical emergency. Delaying diagnosis and treatment may render treatment less effective or ineffective.
Experts estimate that SSHL strikes one person per 100 every year, typically adults in their 40s and 50s. The actual number of new cases of SSHL each year could be much higher because the condition often goes undiagnosed.
### Presentation[edit]
Many people notice that they have SSHL when they wake up in the morning. Others first notice it when they try to use the deafened ear, such as when they use a phone. Still others notice a loud, alarming "pop" just before their hearing disappears. People with sudden deafness often become dizzy, have ringing in their ears (tinnitus), or both.
### Diagnosis[edit]
SSHL is diagnosed via pure tone audiometry. If the test shows a loss of at least 30 dB in three adjacent frequencies, the hearing loss is diagnosed as SSHL. For example, a hearing loss of 30 dB would make conversational speech sound more like a whisper.
### Causes[edit]
Only 10 to 15 percent of the cases diagnosed as SSHL have an identifiable cause. Most cases are classified as idiopathic, also called sudden idiopathic hearing loss (SIHL) and idiopathic sudden sensorineural hearing loss (ISSHL or ISSNHL)[30][31] The majority of evidence points to some type of inflammation in the inner ear as the most common cause of SSNHL.
* Viral – The swelling may be due to a virus. A herpes type virus is believed to be the most common cause of sudden sensorineural hearing loss. The herpes virus lies dormant in our bodies and reactivates for an unknown reason.
* Vascular ischemia of the inner ear or cranial nerve VIII (CN8)
* Perilymph fistula, usually due to a rupture of the round or oval windows and the leakage of perilymph. The patient will usually also experience vertigo or imbalance. A history of trauma is usually present and changes to hearing or vertigo occur with alteration in intracranial pressure such as with straining; lifting, blowing etc.
* Autoimmune – can be due to an autoimmune illness such as systemic lupus erythematosus, granulomatosis with polyangiitis
### Treatment[edit]
Hearing loss completely recovers in around 35-39% of patients with SSNHL, usually within one to two weeks from onset.[32] Eighty-five percent of those who receive treatment from an otolaryngologist (sometimes called an ENT surgeon) will recover some of their hearing.
* vitamins and antioxidants
* vasodilators
* betahistine (Betaserc), an anti-vertigo drug
* hyperbaric oxygen[33]
* rheologic agents that reduce blood viscosity (such as hydroxyethyl starch, dextran and pentoxifylline)[34]
* anti-inflammatory agents, primarily oral corticosteroids such as prednisone, methylprednisone[citation needed]
* Intratympanic administration – Gel formulations are under investigation to provide more consistent drug delivery to the inner ear.[35] Local drug delivery can be accomplished through intratympanic administration, a minimally invasive procedure where the ear drum is anesthetized and a drug is administered into the middle ear. From the middle ear, a drug can diffuse across the round window membrane into the inner ear.[35] Intratympanic administration of steroids may be effective for sudden sensorineural hearing loss for some patients, but high quality clinical data has not been generated.[36] Intratympanic administration of an anti-apoptotic peptide (JNK inhibitor) is currently being evaluated in late-stage clinical development.[37]
### Epidemiology[edit]
General hearing loss affects close to 10% of the global population.[38] In the United States alone, it is expected that 13.5 million Americans suffer from sensorineural hearing loss. Of those afflicted with sensorineural hearing loss, approximately 50% are congenitally related. The other 50% are due to maternal or fetal infections, post-natal infections, viral infections due to rubella or cytomegalovirus, ototoxic drugs,[39] exposure to loud sounds, severe head trauma, and premature births [40]
Of the genetically related sensorineural hearing loss cases, 75% are autosomal recessive, 15-20% autosomal dominant, and 1-3% sex-linked. While the specific gene and protein is still unknown, mutations in the connexin 26 gene near the DFNB1 locus of chromosome 13[41] are thought to account for most of the autosomal recessive genetic-related sensorineural hearing loss [40]
At least 8.5 per 1000 children younger than age 18 have sensorineural hearing loss. General hearing loss is proportionally related to age. At least 314 per 1000 people older than age 65 have hearing loss. Several risk factors for sensorineural hearing loss have been studied over the past decade. Osteoporosis, stapedectomy surgery, pneumococcal vaccinations, mobile phone users, and hyperbilirubinemia at birth are among some of the known risk factors.
## See also[edit]
* Conductive hearing loss, hearing loss caused primarily by conditions in the middle ear
* Cortical deafness, another kind of nerve deafness
* Hearing loss
* Inner ear, the innermost portion of the ear containing the sensorineural apparatus of hearing
* Otosclerosis, a sometimes associated or predecessor conductive hearing loss condition of the middle ear
* Tinnitus, ringing in the ears, a common accompaniment of SNHL
## Notes[edit]
1. ^ A few prominent ones are American National Standards Institute (ANSI), International Organization for Standardization (ISO), Deutsches Institut für Normung (DIN), Swedish Standards Institute (SSI), Canadian Standards Association (CSA), British Standards Institute (BSI), Austrian Standards International(ÖNORM), and in the United States, Environmental Protection Agency (EPA), Occupational Safety and Health Administration (OSHA) and numerous state agencies, and Department of Defense (DOD) among others.
2. ^ The various standards quantify nose exposure with a set of specified measures, usually with respect to a reference exposure time of 8 hours, a typical working day. The measures include, a weighting scale (usually A) with a sample time, a threshold value in dB, a criterion sound pressure level in dB with an exposure time usually in hours, and an exchange rate in dB. A weighted SPL is denoted dB(X) where X is a weighting scale, usually A, but sometimes C. (A) refers to A-weighting of SPL, which is an adjustment to measured SPL to compensate for the frequency response of the human ear, which is less sensitive to low frequencies. The criterion level is the average sound pressure level permitted over the exposure time. The threshold sound pressure level is the level above which sound will be integrated into the average. The sample time (fast, slow or impulse) is the rate of sampling — a slow sample time is 1 second; a fast sample time is 1/8 second, and impulse sample time is 35 milliseconds. The effect of a slower sample time means that very short duration sounds may not be fully sampled (or even sampled at all in rare cases), so the noise exposure may be underestimated. The exchange rate is the amount by which the permitted sound level may increase if the exposure time is halved.
3. ^ Coenzyme Q10(CoQ10) supports mitochondrial function and has significant antioxidant properties (Quinzii 2010). Animal studies have found that supplementation with CoQ10 reduced noise-induced hearing loss and the death of hair cells (Hirose 2008; Fetoni 2009, 2012). Human studies have also yielded promising results, as 160-600 mg of CoQ10 daily was found to reduce hearing loss in people with sudden sensorineural hearing loss and presbycusis (Ahn 2010; Salami 2010; Guastini 2011). Also, a small preliminary trial found that CoQ10 supplementation alleviated tinnitus in those whose CoQ10 blood levels were initially low (Khan 2007). Another small trial found CoQ10 may slow progression of hearing loss associated with a mitochondrial genetic mutation (Angeli 2005).
## References[edit]
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2. ^ Matsunaga T (December 2009). "Value of genetic testing in the otological approach for sensorineural hearing loss". The Keio Journal of Medicine. 58 (4): 216–22. doi:10.2302/kjm.58.216. PMID 20037285.
3. ^ Papadakis CE, Hajiioannou JK, Kyrmizakis DE, Bizakis JG (May 2003). "Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease". The Journal of Laryngology and Otology. 117 (5): 399–401. doi:10.1258/002221503321626465. PMID 12803792.
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15. ^ a b c d e f Moore BC (April 2004). "Dead regions in the cochlea: conceptual foundations, diagnosis, and clinical applications". Ear and Hearing. 25 (2): 98–116. doi:10.1097/01.aud.0000120359.49711.d7. PMID 15064655.
16. ^ Terkildsen K (1980). "Hearing impairment and audiograms". Scand Audiol. 10: 27–31. Cited in: Moore BC (March 2001). "Dead regions in the cochlea: diagnosis, perceptual consequences, and implications for the fitting of hearing AIDS". Trends in Amplification. 5 (1): 1–34. doi:10.1177/108471380100500102. PMC 4168936. PMID 25425895.
17. ^ Thornton AR, Abbas PJ, Abbas PJ (February 1980). "Low-frequency hearing loss: perception of filtered speech, psychophysical tuning curves, and masking". The Journal of the Acoustical Society of America. 67 (2): 638–43. Bibcode:1980ASAJ...67..638T. doi:10.1121/1.383888. PMID 7358904. Cited in: Moore BC (March 2001). "Dead regions in the cochlea: diagnosis, perceptual consequences, and implications for the fitting of hearing AIDS". Trends in Amplification. 5 (1): 1–34. doi:10.1177/108471380100500102. PMC 4168936. PMID 25425895.
18. ^ a b c d Sek A, Alcántara J, Moore BC, Kluk K, Wicher A (July 2005). "Development of a fast method for determining psychophysical tuning curves". International Journal of Audiology. 44 (7): 408–20. doi:10.1080/14992020500060800. PMID 16136791.
19. ^ a b Summers V, Molis MR, Müsch H, Walden BE, Surr RK, Cord MT (April 2003). "Identifying dead regions in the cochlea: psychophysical tuning curves and tone detection in threshold-equalizing noise". Ear and Hearing. 24 (2): 133–42. doi:10.1097/01.AUD.0000058148.27540.D9. PMID 12677110.
20. ^ Huss M, Moore BC (October 2005). "Dead regions and noisiness of pure tones". International Journal of Audiology. 44 (10): 599–611. doi:10.1080/02640410500243962. PMID 16315451.
21. ^ Kluk K, Moore BC (December 2006). "Dead regions in the cochlea and enhancement of frequency discrimination: Effects of audiogram slope, unilateral versus bilateral loss, and hearing-aid use". Hearing Research. 222 (1–2): 1–15. doi:10.1016/j.heares.2006.06.020. PMID 17071031.
22. ^ Safieddine S, El-Amraoui A, Petit C (2012). "The auditory hair cell ribbon synapse: from assembly to function". Annual Review of Neuroscience. 35: 509–28. doi:10.1146/annurev-neuro-061010-113705. PMID 22715884.
23. ^ Wichmann C, Moser T (July 2015). "Relating structure and function of inner hair cell ribbon synapses". Cell and Tissue Research. 361 (1): 95–114. doi:10.1007/s00441-014-2102-7. PMC 4487357. PMID 25874597.
24. ^ Nakagawa T (2014). "Strategies for developing novel therapeutics for sensorineural hearing loss". Frontiers in Pharmacology. 5: 206. doi:10.3389/fphar.2014.00206. PMC 4165348. PMID 25278894.
25. ^ "Sensorineural Hearing Loss". HealthCentral. Retrieved 8 June 2013.
26. ^ "Nutrients Prevent Noise Induced Hearing Loss". 2013-05-08. Archived from the original on 8 May 2013. Retrieved 2016-02-25.
27. ^ "Sound Pharmaceuticals submits positive Phase 2 clinical trial data on SPI-1005 for the... - SEATTLE, Feb. 18, 2014 /PRNewswire/". Prnewswire.com. Retrieved 2016-02-25.
28. ^ Parker MA (December 2011). "Biotechnology in the treatment of sensorineural hearing loss: foundations and future of hair cell regeneration". Journal of Speech, Language, and Hearing Research. 54 (6): 1709–31. doi:10.1044/1092-4388(2011/10-0149). PMC 3163053. PMID 21386039.
29. ^ "Study Using Stem Cells to Treat Sensorineural Hearing Loss Underway". HealthyHearing. 2 February 2012. Retrieved 8 June 2013.
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31. ^ "H91.2". ICD-10 Version:2010. apps.who.int. 2010.
32. ^ Bayoumy, AB; van der Veen, EL; de Ru, JA (1 August 2018). "Assessment of Spontaneous Recovery Rates in Patients With Idiopathic Sudden Sensorineural Hearing Loss". JAMA Otolaryngology–Head & Neck Surgery. 144 (8): 655–656. doi:10.1001/jamaoto.2018.1072. PMID 29931029.
33. ^ Bennett MH, Kertesz T, Perleth M, Yeung P, Lehm JP (October 2012). "Hyperbaric oxygen for idiopathic sudden sensorineural hearing loss and tinnitus". The Cochrane Database of Systematic Reviews. 10: CD004739. doi:10.1002/14651858.CD004739.pub4. PMID 23076907.
34. ^ Li, Yike (15 June 2017). "Interventions in the management of blood viscosity for idiopathic sudden sensorineural hearing loss: A meta-analysis". Journal of Health Research and Reviews. 4 (2): 50–61. doi:10.4103/jhrr.jhrr_125_16.
35. ^ a b McCall AA, Swan EE, Borenstein JT, Sewell WF, Kujawa SG, McKenna MJ (April 2010). "Drug delivery for treatment of inner ear disease: current state of knowledge". Ear and Hearing. 31 (2): 156–65. doi:10.1097/AUD.0b013e3181c351f2. PMC 2836414. PMID 19952751.
36. ^ Crane RA, Camilon M, Nguyen S, Meyer TA (January 2015). "Steroids for treatment of sudden sensorineural hearing loss: a meta-analysis of randomized controlled trials". The Laryngoscope. 125 (1): 209–17. doi:10.1002/lary.24834. PMID 25045896.
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39. ^ "Genetic Sensorineural Hearing Loss: Background, Pathophysiology, Epidemiology". 2019-11-09. Cite journal requires `|journal=` (help)
40. ^ a b Antonio, Stephanie (2018-06-12). "Genetic Sensorineural Hearing Loss Clinical Presentation". Medscape.
41. ^ "Welcome to the Hereditary Hearing Loss Homepage | Hereditary Hearing Loss Homepage". hereditaryhearingloss.org. Retrieved 2019-12-03.
38.Ghazavi H,Kargoshaei A-A,Jamshidi-Koohsari M,"Investigation of vitamin D levels in patients with Sudden Sensory-Neural Hearing Loss and its effect on treatment",American journal of otolaryngology and head and neck medicine and suegery,November 2019 https://doi.org/10.1016/j.amjoto.2019.102327
## External links[edit]
* Hearing Loss Web
Classification
D
* ICD-10: H90.3-H90.5
* ICD-9-CM: 389.1
* MeSH: D006319
* DiseasesDB: 2874
External resources
* MedlinePlus: 003291
* v
* t
* e
Disorders of hearing and balance
Hearing
Symptoms
* Hearing loss
* Excessive response
* Tinnitus
* Hyperacusis
* Phonophobia
Disease
Loss
* Conductive hearing loss
* Otosclerosis
* Superior canal dehiscence
* Sensorineural hearing loss
* Presbycusis
* Cortical deafness
* Nonsyndromic deafness
Other
* Deafblindness
* Wolfram syndrome
* Usher syndrome
* Auditory processing disorder
* Spatial hearing loss
Tests
* Hearing test
* Rinne test
* Tone decay test
* Weber test
* Audiometry
* pure tone
* visual reinforcement
Balance
Symptoms
* Vertigo
* nystagmus
Disease
* Balance disorder
* Peripheral
* Ménière's disease
* Benign paroxysmal positional vertigo
* Labyrinthitis
* Labyrinthine fistula
Tests
* Dix–Hallpike test
* Unterberger test
* Romberg's test
* Vestibulo–ocular reflex
Authority control
* NDL: 00569587
*[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
|
Sensorineural hearing loss
|
c0018784
| 7,670 |
wikipedia
|
https://en.wikipedia.org/wiki/Sensorineural_hearing_loss
| 2021-01-18T18:29:50 |
{"mesh": ["D006319"], "umls": ["C0018784", "C0018780", "C0018776"], "wikidata": ["Q928697"]}
|
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.
*[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
|
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
|
c4014942
| 7,671 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436174
| 2021-01-23T19:01:12 |
{"omim": ["616007"], "icd-10": ["Q87.8"], "synonyms": ["CAGSSS"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-32 with or without immotile sperm (DFNB32) is caused by homozygous mutation in the CDC14A gene (603504) on chromosome 1p21.
Description
DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018).
Clinical Features
Masmoudi et al. (2003) investigated a large consanguineous Tunisian family segregating congenital profound autosomal recessive nonsyndromic deafness. Audiometric tests showed a greater than 70 dB hearing loss in all affected individuals, who were otherwise healthy, with normal life spans and no dysmorphic or other abnormal findings.
Delmaghani et al. (2016) studied 6 of 8 living affected individuals from a consanguineous Iranian family with deafness. The patients ranged in age from 21 to 69 years, and all had prelingual severe to profound deafness of cochlear origin, as shown by markedly increased detection thresholds in pure-tone audiometry and auditory brainstem responses, and by the absence of transient evoked otoacoustic emissions. Otoscopic examination and tympanometry with acoustic reflex testing did not show evidence of conductive hearing impairment. Examination did not reveal any syndromic features, and severe congenital vestibular function was excluded by normal age of walking onset reported by the patients. The pedigree reported for the Iranian family showed 1 fertile deaf man.
Imtiaz et al. (2018) restudied the Tunisian family with deafness originally described by Masmoudi et al. (2003) (family FT1), as well as 5 consanguineous Pakistani families with deafness (HLRB11, HLAI24, HPK1, PKDF539, and PKSN10) and 2 consanguineous Iranian families with deafness (MORL1 and MORL2). Hearing loss ranged from moderate (families HPK1 and PKSN10), in which affected individuals wore hearing aids for oral communication in everyday life, to severe (family PKDF539), in which affected members were profoundly deaf. In some families (HLRB11, HLAI24, and PKDF539), affected individuals in the first or second decade of life had significant hearing loss but with lower thresholds than older family members. In addition, many individuals reported progressive loss of hearing with age, which was corroborated by their parents. No vestibular problems were reported by affected individuals, and no obvious balance problems were detected using Romberg and tandem gait tests. Deaf men from 5 of the families (HLRB11, HLAI24, HPK1, PKDF539, and MORL1) who were married stated that for many years they had been unable to father children. Semen analysis performed in 5 affected men from 4 of the families revealed sperm counts in 4 men that ranged from normal to low-normal, with immotility observed in 60 to 100% of sperm, and abnormal sperm morphology that ranged from 20 to nearly 100% of sperm. In 1 man (family HLRB11), semen analysis yielded no sperm, but white and red blood cells were observed at levels indicative of infection. However, 2 deaf men from family PKSN10 and 1 deaf man from family MORL2 were biologic fathers, and deaf women from families HLRB11, PKDF539, and PKSN10 had multiple children. The authors noted that other men in the study declined semen assessment, and the fertility status of the 3 deaf men in the original Tunisian family (FT1) was reported as unknown.
Inheritance
The transmission pattern of deafness in the families reported by Masmoudi et al. (2003) and Delmaghani et al. (2016) was consistent with autosomal recessive inheritance.
Mapping
In a large consanguineous Tunisian family segregating autosomal recessive congenital profound nonsyndromic deafness, Masmoudi et al. (2003) excluded linkage to known recessive deafness loci and then performed genomewide screening, which demonstrated linkage to a novel locus, designated DFNB32, on chromosome 1. A maximum 2-point lod score of 4.96 was obtained at D1S21401, and haplotype analysis defined a 16-Mb critical region between D1S2868 and afmb014zb9 on chromosome 1p22.1-p13.3.
In a consanguineous Iranian family with autosomal recessive deafness, Delmaghani et al. (2016) performed SNP array analysis and homozygosity mapping that defined a single 2.8-Mb critical region between rs7537296 and rs950060 at chromosome 1p21.2-p21.1. The authors stated that this locus, designated DFNB105, did not match any previously reported human deafness loci; however, in restudying this family, Imtiaz et al. (2018) stated that the DFNB105 linkage interval was entirely within the meiotic breakpoint boundaries of the DFNB32 locus defined by the Tunisian family (FT1) originally studied by Masmoudi et al. (2003).
Molecular Genetics
In a consanguineous Iranian family with autosomal recessive deafness mapping to chromosome 1p21, Delmaghani et al. (2016) performed whole-exome sequencing and identified homozygosity for a nonsense mutation in the CDC14A gene (R376X; 603504.0001) that segregated fully with disease in the family and was not found in 150 Iranian controls or in public databases. Whole-exome sequencing of 115 unrelated individuals from Maghreb with severe or profound congenital deafness identified a Mauritanian patient with profound deafness who was homozygous for another nonsense mutation in CDC14A (R339X; 603504.0002).
In affected individuals from 8 consanguineous families segregating autosomal recessive deafness, including the Tunisian family originally studied by Masmoudi et al. (2003), Imtiaz et al. (2018) identified homozygosity for mutations in the CDC14A gene (see, e.g., 603504.0001 and 603504.0003-603504.0007). Because deaf men from 5 of the families reported infertility and semen analysis showed high percentages of immotile sperm with abnormal morphology, the authors designated the phenotype 'hearing impairment and infertile male syndrome (HIIMS).'
### Exclusion Studies
In a large consanguineous Tunisian family segregating autosomal recessive congenital profound deafness mapping to chromosome 1p22.1-p13.3, Masmoudi et al. (2003) screened for mutations in the COL11A1 gene (120280) and excluded it as a candidate gene.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Deafness, sensorineural, moderate to profound GENITOURINARY Internal Genitalia (Male) \- Infertility (in some patients) \- Immotile sperm (in some patients) \- Abnormal sperm morphology (in some patients) MISCELLANEOUS \- Prelingual onset of deafness \- Deafness is progressive in some families \- Some affected men are infertile MOLECULAR BASIS \- Caused by mutation in the cell division cycle 14A gene (CDC14A, 603504.0001 ) ▲ 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
|
DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM
|
c1837608
| 7,672 |
omim
|
https://www.omim.org/entry/608653
| 2019-09-22T16:07:24 |
{"doid": ["0110491"], "mesh": ["C563884"], "omim": ["608653"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "Alternative titles", "DEAFNESS, AUTOSOMAL RECESSIVE 105, FORMERLY", "HEARING IMPAIRMENT INFERTILE MALE SYNDROME", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive isolated neurosensory deafness type DFNB"]}
|
Drug-induced urticaria
SpecialtyDermatology
Drug-induced urticaria occurs by immunologic and nonimmunologic mechanisms, urticaria most commonly caused by aspirin and NSAIDs.[1]:120
## See also[edit]
* List of cutaneous conditions
* Localized heat contact urticaria
* Skin lesion
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
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
|
Drug-induced urticaria
|
c0263347
| 7,673 |
wikipedia
|
https://en.wikipedia.org/wiki/Drug-induced_urticaria
| 2021-01-18T18:50:31 |
{"umls": ["C0263347"], "wikidata": ["Q5308825"]}
|
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.
*[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
|
Tubulinopathy-associated dysgyria
|
None
| 7,674 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=467166
| 2021-01-23T18:37:19 |
{"synonyms": ["Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"]}
|
Ocular neurosis is the usual cause of eye strain headache that begins abruptly with use of the eyes in which there is a normal ophthalmologic exam.[1]
ICD classification: F45.8 Neurosis ocular [2]
## References[edit]
1. ^ Ocular Lesion
2. ^ ICD-10 Neurosis
## External links[edit]
* Kaplan AH, Milder B (October 1961). "Psychologic aspects of ophthalmologic practice. I. Psychodynamics of looking; ocular neurosis". Am. J. Ophthalmol. 52: 515–20. doi:10.1016/0002-9394(61)90010-1. PMID 14453713.
* Vancea P (April 1977). "[Ocular disturbances in asthenic neurosis and their treatment (author's transl)]". Klinische Monatsblätter für Augenheilkunde (in German). 170 (4): 525–8. PMID 18637.
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
|
Ocular neurosis
|
None
| 7,675 |
wikipedia
|
https://en.wikipedia.org/wiki/Ocular_neurosis
| 2021-01-18T18:54:53 |
{"icd-10": ["F45.8"], "wikidata": ["Q7077142"]}
|
"Broken bones" redirects here. For other uses, see Broken Bones.
Bone fracture
Other namesbroken bone, bone break
Internal and external views of an arm with a compound fracture, both before and after surgery
SpecialtyOrthopedics
A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of the bone. In more severe cases, the bone may be broken into several pieces.[1] A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Pathophysiology
* 2.1 Effects of smoking
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Mechanism
* 3.1.2 Soft-tissue involvement
* 3.1.3 Displacement
* 3.1.4 Fracture pattern
* 3.1.5 Fragments
* 3.1.6 Anatomical location
* 3.2 OTA/AO classification
* 3.3 Classifications named after people
* 4 Prevention
* 5 Treatment
* 5.1 Pain management
* 5.2 Immobilization
* 5.3 Surgery
* 5.4 Other
* 6 Children
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Although bone tissue contains no pain receptors, a bone fracture is painful for several reasons:[3]
* Breaking in the continuity of the periosteum, with or without similar discontinuity in endosteum, as both contain multiple pain receptors.
* Edema and hematoma of nearby soft tissues caused by ruptured bone marrow evokes pressure pain.
* Involuntary muscle spasms trying to hold bone fragments in place.
Damage to adjacent structures such as nerves, muscles or blood vessels, spinal cord, and nerve roots (for spine fractures), or cranial contents (for skull fractures) may cause other specific signs and symptoms.
### Complications[edit]
An old fracture with nonunion of the fracture fragments
Some fractures may lead to serious complications including a condition known as compartment syndrome. If not treated, eventually, compartment syndrome may require amputation of the affected limb. Other complications may include non-union, where the fractured bone fails to heal or mal-union, where the fractured bone heals in a deformed manner. One form of malunion is the malrotation of a bone, which is especially common after femoral and tibial fractures.
Complications of fractures may be classified into three broad groups, depending upon their time of occurrence. These are as follows –
1. Immediate complications – occurs at the time of the fracture.
2. Early complications – occurring in the initial few days after the fracture.
3. Late complications – occurring a long time after the fracture.
Immediate Early Late
Systemic
* Hypovolaemic shock
Systemic
* Hypovolaemic shock
* ARDS – Adult respiratory distress syndrome
* Fat embolism syndrome
* Deep vein thrombosis
* Pulmonary syndrome
* Aseptic traumatic fever
* Sepsis (in open fracture )
* Crush syndrome
Imperfect union of the fracture
* Delayed union
* Non-union
* Malunion
* Cross union
Local
* Injury to major vessels
* Injury to muscles and tendons
* Injury to joints
* Injury to viscera
Local
* Infection
* Compartment syndrome
Others
* Avascular necrosis
* Shortening
* Joint stiffness
* Sudeck's dystrophy
* Osteomyelitis
* Ischaemic contracture
* Myositis ossificans
* Osteoarthritis
## Pathophysiology[edit]
Main article: Bone healing
The natural process of healing a fracture starts when the injured bone and surrounding tissues bleed, forming a fracture hematoma. The blood coagulates to form a blood clot situated between the broken fragments. Within a few days, blood vessels grow into the jelly-like matrix of the blood clot. The new blood vessels bring phagocytes to the area, which gradually removes the non-viable material. The blood vessels also bring fibroblasts in the walls of the vessels and these multiply and produce collagen fibres. In this way, the blood clot is replaced by a matrix of collagen. Collagen's rubbery consistency allows bone fragments to move only a small amount unless severe or persistent force is applied.
At this stage, some of the fibroblasts begin to lay down bone matrix in the form of collagen monomers. These monomers spontaneously assemble to form the bone matrix, for which bone crystals (calcium hydroxyapatite) are deposited in amongst, in the form of insoluble crystals. This mineralization of the collagen matrix stiffens it and transforms it into bone. In fact, bone is a mineralized collagen matrix; if the mineral is dissolved out of bone, it becomes rubbery. Healing bone callus on average is sufficiently mineralized to show up on X-ray within 6 weeks in adults and less in children. This initial "woven" bone does not have the strong mechanical properties of mature bone. By a process of remodelling, the woven bone is replaced by mature "lamellar" bone. The whole process may take up to 18 months, but in adults, the strength of the healing bone is usually 80% of normal by 3 months after the injury.
Several factors may help or hinder the bone healing process. For example, tobacco smoking hinders the process of bone healing,[4] and adequate nutrition (including calcium intake) will help the bone healing process. Weight-bearing stress on bone, after the bone has healed sufficiently to bear the weight, also builds bone strength.
Although there are theoretical concerns about NSAIDs slowing the rate of healing, there is not enough evidence to warrant withholding the use of this type analgesic in simple fractures.[5]
### Effects of smoking[edit]
Smokers generally have lower bone density than non-smokers, so they have a much higher risk of fractures. There is also evidence that smoking delays bone healing.[6]
## Diagnosis[edit]
Radiography to identify possible fractures after a knee injury
A bone fracture may be diagnosed based on the history given and the physical examination performed. Radiographic imaging often is performed to confirm the diagnosis. Under certain circumstances, radiographic examination of the nearby joints is indicated in order to exclude dislocations and fracture-dislocations. In situations where projectional radiography alone is insufficient, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) may be indicated.
### Classification[edit]
"Compound Fracture" redirects here. For the 2013 horror film, see Compound Fracture (film).
Compare healthy bone with different types of fractures:
(a) closed fracture
(b) open fracture
(c) transverse fracture
(d) spiral fracture
(e) comminuted fracture
(f) impacted fracture
(g) greenstick fracture
(h) oblique fracture
Open ankle fracture with luxation
Periprosthetic fracture of left femur
In orthopedic medicine, fractures are classified in various ways. Historically they are named after the physician who first described the fracture conditions, however, there are more systematic classifications as well.
They may be divided into stable versus unstable depending on the likelihood that they may shift further.
#### Mechanism[edit]
* Traumatic fracture – a fracture due to sustained trauma. e.g., fractures caused by a fall, road traffic accident, fight, etc.
* Pathologic fracture – a fracture through a bone that has been made weak by some underlying disease is called pathological fracture. e.g., a fracture through a bone weakened by metastasis. Osteoporosis is the most common cause of pathological fracture.
* Periprosthetic fracture – a fracture at the point of mechanical weakness at the end of an implant
#### Soft-tissue involvement[edit]
* Closed fractures are those in which the overlying skin is intact
* Open/compound fractures involve wounds that communicate with the fracture, or where fracture hematoma is exposed, and may thus expose bone to contamination. Open injuries carry a higher risk of infection.
* Clean fracture
* Contaminated fracture
#### Displacement[edit]
* Non-displaced
* Displaced
* Translated, or ad latus, with sideways displacement.[7]
* Angulated
* Rotated
* Shortened, a reduction in overall bone length when displaced fracture fragments overlap
#### Fracture pattern[edit]
* Linear fracture: a fracture that is parallel to the bone's long axis
* Transverse fracture: a fracture that is at a right angle to the bone's long axis
* Oblique fracture: a fracture that is diagonal to a bone's long axis (more than 30°)
* Spiral fracture: a fracture where at least one part of the bone has been twisted
* Compression fracture/wedge fracture: usually occurs in the vertebrae, for example when the front portion of a vertebra in the spine collapses due to osteoporosis (a medical condition which causes bones to become brittle and susceptible to fracture, with or without trauma)
* Impacted fracture: a fracture caused when bone fragments are driven into each other
* Avulsion fracture: a fracture where a fragment of bone is separated from the main mass
#### Fragments[edit]
* Incomplete fracture: a fracture in which the bone fragments are still partially joined, in such cases, there is a crack in the osseous tissue that does not completely traverse the width of the bone.
* Complete fracture: a fracture in which bone fragments separate completely.
* Comminuted fracture: a fracture in which the bone has broken into several pieces.
#### Anatomical location[edit]
An anatomical classification may begin with specifying the involved body part, such as the head or arm, followed with more specific localization. Fractures that have additional definition criteria than merely localization often may be classified as subtypes of fractures, such as a Holstein-Lewis fracture being a subtype of a humerus fracture. Most typical examples in an orthopaedic classification given in the previous section cannot be classified appropriately into any specific part of an anatomical classification, however, as they may apply to multiple anatomical fracture sites.
* Skull fracture
* Basilar skull fracture
* Blowout fracture – a fracture of the walls or floor of the orbit
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull – facial fractures involving the maxillary bone and surrounding structures in a usually bilateral and either horizontal, pyramidal, or transverse way.
* Spinal fracture
* Cervical fracture
* Fracture of C1, including Jefferson fracture
* Fracture of C2, including Hangman's fracture
* Flexion teardrop fracture – a fracture of the anteroinferior aspect of a cervical vertebral
* Clay-shoveler fracture – fracture through the spinous process of a vertebra occurring at any of the lower cervical or upper thoracic vertebrae
* Burst fracture – in which a vertebra breaks from a high-energy axial load
* Compression fracture – a collapse of a vertebra, often in the form of wedge fractures due to larger compression anteriorly
* Chance fracture – compression injury to the anterior portion of a vertebral body with concomitant distraction injury to posterior elements
* Holdsworth fracture – an unstable fracture dislocation of the thoracolumbar junction of the spine
* Rib fracture
* Sternal fracture
* Shoulder fracture
* Clavicle fracture
* Scapular fracture
* Arm fracture
* Humerus fracture (fracture of upper arm)
* Supracondylar fracture
* Holstein-Lewis fracture – a fracture of the distal third of the humerus resulting in entrapment of the radial nerve
* Forearm fracture
* Ulnar fracture
* Monteggia fracture – a fracture of the proximal third of the ulna with the dislocation of the head of the radius
* Hume fracture – a fracture of the olecranon with an associated anterior dislocation of the radial head
* Radius fracture
* Essex-Lopresti fracture – a fracture of the radial head with concomitant dislocation of the distal radio-ulnar joint with disruption of the interosseous membrane [8]
* Distal radius fracture
* Galeazzi fracture – a fracture of the radius with dislocation of the distal radioulnar joint
* Colles' fracture – a distal fracture of the radius with dorsal (posterior) displacement of the wrist and hand
* Smith's fracture – a distal fracture of the radius with volar (ventral) displacement of the wrist and hand
* Barton's fracture – an intra-articular fracture of the distal radius with dislocation of the radiocarpal joint
* Hand fracture
* Scaphoid fracture
* Rolando fracture – a comminuted intra-articular fracture through the base of the first metacarpal bone
* Bennett's fracture – a fracture of the base of the first metacarpal bone which extends into the carpometacarpal (CMC) joint [9]
* Boxer's fracture – a fracture at the neck of a metacarpal
* Pelvic fracture
* Fracture of the hip bone
* Duverney fracture – an isolated pelvic fracture involving only the iliac wing
* Femoral fracture
* Hip fracture (anatomically a fracture of the femur bone and not the hip bone)
* Patella fracture
* Crus fracture
* Tibia fracture
* Pilon fracture
* Tibial plateau fracture
* Bumper fracture – a fracture of the lateral tibial plateau caused by a forced valgus applied to the knee
* Segond fracture – an avulsion fracture of the lateral tibial condyle
* Gosselin fracture – a fractures of the tibial plafond into anterior and posterior fragments [10]
* Toddler's fracture – an undisplaced and spiral fracture of the distal third to distal half of the tibia [11]
* Fibular fracture
* Maisonneuve fracture – a spiral fracture of the proximal third of the fibula associated with a tear of the distal tibiofibular syndesmosis and the interosseous membrane
* Le Fort fracture of ankle – a vertical fracture of the antero-medial part of the distal fibula with avulsion of the anterior tibiofibular ligament [10]
* Bosworth fracture – a fracture with an associated fixed posterior dislocation of the distal fibular fragment that becomes trapped behind the posterior tibial tubercle; the injury is caused by severe external rotation of the ankle [12]
* Combined tibia and fibula fracture
* Trimalleolar fracture – involving the lateral malleolus, medial malleolus, and the distal posterior aspect of the tibia
* Bimalleolar fracture – involving the lateral malleolus and the medial malleolus
* Pott's fracture
* Foot fracture
* Lisfranc fracture – in which one or all of the metatarsals are displaced from the tarsus[13]
* Jones fracture – a fracture of the proximal end of the fifth metatarsal
* March fracture – a fracture of the distal third of one of the metatarsals occurring because of recurrent stress
* Calcaneal fracture \- a fracture of the calcaneus (heel bone)
### OTA/AO classification[edit]
Main article: Müller AO Classification of fractures
The Orthopaedic Trauma Association Committee for Coding and Classification published its classification system [14] in 1996, adopting a similar system to the 1987 AO Foundation system.[15] In 2007, they extended their system,[16] unifying the two systems regarding wrist, hand, foot, and ankle fractures.
### Classifications named after people[edit]
Main category: Orthopedic classifications
A number of classifications are named after the person (eponymous) who developed it.
* "Denis classification" for spinal fractures [17]
* "Frykman classification" for forearm fractures (fractures of radius and ulna)
* "Gustilo open fracture classification" [18]
* "Letournel and Judet Classification" for Acetabular fractures [19]
* "Neer classification" for humerus fractures [20][21]
* Seinsheimer classification, Evans-Jensen classification, Pipkin classification, and Garden classification for hip fractures
## Prevention[edit]
Both high- and low-force trauma can cause bone fracture injuries.[22][23] Preventive efforts to reduce motor vehicle crashes, the most common cause of high-force trauma, include reducing distractions while driving.[24] Common distractions are driving under the influence and texting or calling while driving, both of which lead to an approximate 6-fold increase in crashes.[24] Wearing a seatbelt can also reduce the likelihood of injury in a collision.[24]
A common cause of low-force trauma is an at-home fall.[22][23] When considering preventative efforts, the National Institute of Health (NIH) examines ways to reduce the likelihood of falling, the force of the fall, and bone fragility.[25] To prevent at-home falls they suggest keeping cords out of high-traffic areas where someone could trip, installing handrails and keeping stairways well-lit, and installing an assistive bar near the bathtub in the washroom for support.[25] To reduce the impact of a fall the NIH recommends to try falling straight down on your buttocks or onto your hands.[25] Finally, taking calcium vitamin D supplements can help strengthen your bones.[25]
## Treatment[edit]
X-ray showing the proximal portion of a fractured tibia with an intramedullary nail
The surgical treatment of mandibular angle fracture; fixation of the bone fragments by the plates, the principles of osteosynthesis are stability (immobility of the fragments that creates the conditions for bones coalescence) and functionality
Proximal femur nail with locking and stabilisation screws for treatment of femur fractures of left thigh
Treatment of bone fractures are broadly classified as surgical or conservative, the latter basically referring to any non-surgical procedure, such as pain management, immobilization or other non-surgical stabilization. A similar classification is open versus closed treatment, in which open treatment refers to any treatment in which the fracture site is opened surgically, regardless of whether the fracture is an open or closed fracture.
### Pain management[edit]
In arm fractures in children, ibuprofen has been found to be as effective as a combination of paracetamol and codeine.[26]
### Immobilization[edit]
Since bone healing is a natural process that will occur most often, fracture treatment aims to ensure the best possible function of the injured part after healing. Bone fractures typically are treated by restoring the fractured pieces of bone to their natural positions (if necessary), and maintaining those positions while the bone heals. Often, aligning the bone, called reduction, in a good position and verifying the improved alignment with an X-ray is all that is needed. This process is extremely painful without anaesthesia, about as painful as breaking the bone itself. To this end, a fractured limb usually is immobilized with a plaster or fibreglass cast or splint that holds the bones in position and immobilizes the joints above and below the fracture. When the initial post-fracture oedema or swelling goes down, the fracture may be placed in a removable brace or orthosis. If being treated with surgery, surgical nails, screws, plates, and wires are used to hold the fractured bone together more directly. Alternatively, fractured bones may be treated by the Ilizarov method which is a form of an external fixator.
Occasionally smaller bones, such as phalanges of the toes and fingers, may be treated without the cast, by buddy wrapping them, which serves a similar function to making a cast. A device called a Suzuki frame may be used in cases of deep, complex intra-articular digit fractures.[27] By allowing only limited movement, immobilization helps preserve anatomical alignment while enabling callus formation, toward the target of achieving union.
Splinting results in the same outcome as casting in children who have a distal radius fracture with little shifting.[28]
### Surgery[edit]
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Surgical methods of treating fractures have their own risks and benefits, but usually, surgery is performed only if conservative treatment has failed, is very likely to fail, or likely to result in a poor functional outcome. With some fractures such as hip fractures (usually caused by osteoporosis), surgery is offered routinely because non-operative treatment results in prolonged immobilisation, which commonly results in complications including chest infections, pressure sores, deconditioning, deep vein thrombosis (DVT), and pulmonary embolism, which are more dangerous than surgery. When a joint surface is damaged by a fracture, surgery is also commonly recommended to make an accurate anatomical reduction and restore the smoothness of the joint.
Infection is especially dangerous in bones, due to the recrudescent nature of bone infections. Bone tissue is predominantly extracellular matrix, rather than living cells, and the few blood vessels needed to support this low metabolism are only able to bring a limited number of immune cells to an injury to fight infection. For this reason, open fractures and osteotomies call for very careful antiseptic procedures and prophylactic use of antibiotics.
Occasionally, bone grafting is used to treat a fracture.
Sometimes bones are reinforced with metal. These implants must be designed and installed with care. Stress shielding occurs when plates or screws carry too large of a portion of the bone's load, causing atrophy. This problem is reduced, but not eliminated, by the use of low-modulus materials, including titanium and its alloys. The heat generated by the friction of installing hardware can accumulate easily and damage bone tissue, reducing the strength of the connections. If dissimilar metals are installed in contact with one another (i.e., a titanium plate with cobalt-chromium alloy or stainless steel screws), galvanic corrosion will result. The metal ions produced can damage the bone locally and may cause systemic effects as well.
### Other[edit]
A Cochrane review of low-intensity pulsed ultrasound to speed healing in newly broken bones found insufficient evidence to justify routine use.[29] Other reviews have found tentative evidence of benefit.[30] It may be an alternative to surgery for established nonunions.[31]
Vitamin D supplements combined with additional calcium marginally reduces the risk of hip fractures and other types of fracture in older adults; however, vitamin D supplementation alone did not reduce the risk of fractures.[32]
## Children[edit]
Main article: Child bone fracture
In children, whose bones are still developing, there are risks of either a growth plate injury or a greenstick fracture.
* A greenstick fracture occurs due to mechanical failure on the tension side. That is since the bone is not so brittle as it would be in an adult, it does not completely fracture, but rather exhibits bowing without complete disruption of the bone's cortex in the surface opposite the applied force.
* Growth plate injuries, as in Salter-Harris fractures, require careful treatment and accurate reduction to make sure that the bone continues to grow normally.
* Plastic deformation of the bone, in which the bone permanently bends, but does not break, also is possible in children. These injuries may require an osteotomy (bone cut) to realign the bone if it is fixed and cannot be realigned by closed methods.
* Certain fractures mainly occur in children, including fracture of the clavicle and supracondylar fracture of the humerus.[citation needed]
## See also[edit]
* Stress fracture
* Distraction osteogenesis
* Rickets
* Catagmatic
* H. Winnett Orr, U.S. Army surgeon who developed Orthopedic plaster casts
## References[edit]
1. ^ Katherine, Abel (2013). Official CPC Certification Study Guide. American Medical Association. p. 108.
2. ^ Witmer, Daniel K.; Marshall, Silas T.; Browner, Bruce D. (2016). "Emergency Care of Musculoskeletal Injuries". In Townsend, Courtney M.; Beauchamp, R. Daniel; Evers, B. Mark; Mattox, Kenneth L. (eds.). Sabiston Textbook of Surgery (20th ed.). Elsevier. pp. 462–504. ISBN 978-0-323-40163-0.
3. ^ MedicineNet – Fracture Archived 2008-12-21 at the Wayback Machine Medical Author: Benjamin C. Wedro, MD, FAAEM.
4. ^ Sloan, A.; Hussain, I.; Maqsood, M.; Eremin, O.; El-Sheemy, M. (2010). "The effects of smoking on fracture healing". The Surgeon. 8 (2): 111–6. doi:10.1016/j.surge.2009.10.014. PMID 20303894.
5. ^ Pountos, Ippokratis; Georgouli, Theodora; Calori, Giorgio M.; Giannoudis, Peter V. (2012). "Do Nonsteroidal Anti-Inflammatory Drugs Affect Bone Healing? A Critical Analysis". The Scientific World Journal. 2012: 1–14. doi:10.1100/2012/606404. PMC 3259713. PMID 22272177.
6. ^ Kanis, J. A.; Johnell, O.; Oden, A.; Johansson, H.; De Laet, C.; Eisman, J. A.; Fujiwara, S.; Kroger, H.; McCloskey, E. V.; Mellstrom, D.; Melton, L. J.; Pols, H.; Reeve, J.; Silman, A.; Tenenhouse, A. (2004). "Smoking and fracture risk: A meta-analysis". Osteoporosis International. 16 (2): 155–62. doi:10.1007/s00198-004-1640-3. PMID 15175845. S2CID 19890259.
7. ^ Roberto Schubert. "Fractures of the extremities (general rules and nomenclature)". Radiopaedia. Retrieved 2018-02-21.
8. ^ Essex Lopresti fracture Archived 2009-10-01 at the Wayback Machine at Wheeless' Textbook of Orthopaedics online
9. ^ "Bennett's fracture-subluxation". GPnotebook.
10. ^ a b Hunter, Tim B.; Peltier, Leonard F.; Lund, Pamela J. (2000). "Radiologic History Exhibit". RadioGraphics. 20 (3): 819–36. doi:10.1148/radiographics.20.3.g00ma20819. PMID 10835130.
11. ^ Mellick, Larry B.; Milker, Laura; Egsieker, Erik (1999). "Childhood accidental spiral tibial (CAST) fractures". Pediatric Emergency Care. 15 (5): 307–9. doi:10.1097/00006565-199910000-00001. PMID 10532655.
12. ^ Perry, C. R.; Rice, S; Rao, A; Burdge, R (1983). "Posterior fracture-dislocation of the distal part of the fibula. Mechanism and staging of injury". The Journal of Bone and Joint Surgery. American Volume. 65 (8): 1149–57. doi:10.2106/00004623-198365080-00016. PMID 6630259.[permanent dead link]
13. ^ TheFreeDictionary Lisfranc's fracture Citing: Mosby's Medical Dictionary, 8th edition. Copyright 2009
14. ^ "Fracture and dislocation compendium. Orthopaedic Trauma Association Committee for Coding and Classification". Journal of Orthopaedic Trauma. 10 Suppl 1: v–ix, 1–154. 1996. PMID 8814583.
15. ^ Müller ME, Nazarian S, Koch P (1987). Classification AO des fractures. Tome I. Les os longs. Berlin: Springer-Verlag.[page needed]
16. ^ Marsh, J. L.; Slongo, T. F.; Agel, J; Broderick, J. S.; Creevey, W; Decoster, T. A.; Prokuski, L; Sirkin, M. S.; Ziran, B; Henley, B; Audigé, L (2007). "Fracture and dislocation classification compendium - 2007: Orthopaedic Trauma Association classification, database and outcomes committee". Journal of Orthopaedic Trauma. 21 (10 Suppl): S1–133. doi:10.1097/00005131-200711101-00001. PMID 18277234.
17. ^ "Denis classification of spinal fractures". GPnotebook.
18. ^ Rüedi, etc. all; Thomas P. Rüedi; Richard E. Buckley; Christopher G. Moran (2007). AO principles of fracture management, Volume 1. Thieme. p. 96. ISBN 978-3-13-117442-0.
19. ^ "Fractures of the Acetabulum". wheelessonline.com. Archived from the original on 2009-09-26.
20. ^ Mourad, L (1997). "Neer classification of fractures of the proximal humerus". Orthopedic Nursing. 16 (2): 76. PMID 9155417.
21. ^ Proximal Humerus Fractures at eMedicine
22. ^ a b "Open Fractures - OrthoInfo - AAOS". Retrieved 2018-12-03.
23. ^ a b Court-Brown, Charles M.; Bugler, Kate E.; Clement, Nicholas D.; Duckworth, Andrew D.; McQueen, Margaret M. (June 2012). "The epidemiology of open fractures in adults. A 15-year review". Injury. 43 (6): 891–897. doi:10.1016/j.injury.2011.12.007. ISSN 1879-0267. PMID 22204774.
24. ^ a b c Sidwell, Richard; Matar, Maher M.; Sakran, Joseph V. (2017-10-01). "Trauma Education and Prevention". Surgical Clinics of North America. 97 (5): 1185–1197. doi:10.1016/j.suc.2017.06.010. ISSN 0039-6109. PMID 28958365.
25. ^ a b c d "Preventing Falls and Related Fractures | NIH Osteoporosis and Related Bone Diseases National Resource Center". www.bones.nih.gov. Retrieved 2018-12-03.
26. ^ Drendel, Amy L.; Gorelick, Marc H.; Weisman, Steven J.; Lyon, Roger; Brousseau, David C.; Kim, Michael K. (2009). "A Randomized Clinical Trial of Ibuprofen Versus Paracetamol with Codeine for Acute Pediatric Arm Fracture Pain". Annals of Emergency Medicine. 54 (4): 553–60. doi:10.1016/j.annemergmed.2009.06.005. PMID 19692147.
27. ^ Keramidas EG, Miller G (October 2005). "The Suzuki frame for complex intraarticular fractures of the thumb". Plastic and Reconstructive Surgery. 116 (5): 1326–31. doi:10.1097/01.prs.0000181786.39062.0b. PMID 16217475. S2CID 31890854.
28. ^ Boutis, K.; Willan, A.; Babyn, P.; Goeree, R.; Howard, A. (2010). "Cast versus splint in children with minimally angulated fractures of the distal radius: A randomized controlled trial". Canadian Medical Association Journal. 182 (14): 1507–12. doi:10.1503/cmaj.100119. PMC 2950182. PMID 20823169.
29. ^ Griffin, XL; Parsons, N; Costa, ML; Metcalfe, D (23 June 2014). "Ultrasound and shockwave therapy for acute fractures in adults". The Cochrane Database of Systematic Reviews (6): CD008579. doi:10.1002/14651858.CD008579.pub3. PMC 7173732. PMID 24956457.
30. ^ Lou, S.; Lv, H.; Li, Z.; Zhang, L.; Tang, P (1 September 2017). "The effects of low-intensity pulsed ultrasound on fresh fracture: A meta-analysis". Medicine. 96 (39): e8181. doi:10.1097/MD.0000000000008181. PMC 5626319. PMID 28953676.
31. ^ Leighton, R.; Watson, J.T; Giannoudis, P.; Papakostidis, C.; Harrison, A.; Steen, R.G. (May 2017). "Healing of fracture nonunions treated with low-intensity pulsed ultrasound (LIPUS): A systematic review and meta-analysis". Injury. 48 (7): 1339–1347. doi:10.1016/j.injury.2017.05.016. PMID 28532896.
32. ^ Avenell, Alison; Mak, Jenson C. S.; O'Connell, Dianne (2014-04-14). "Vitamin D and vitamin D analogues for preventing fractures in post-menopausal women and older men". The Cochrane Database of Systematic Reviews (4): CD000227. doi:10.1002/14651858.CD000227.pub4. ISSN 1469-493X. PMC 7032685. PMID 24729336.
## External links[edit]
Classification
D
* ICD-10: Sx2 (where x=0–9 depending on the location of the fracture)
* ICD-9-CM: 829
* MeSH: D050723
* DiseasesDB: 4939
External resources
* MedlinePlus: 000001
Wikimedia Commons has media related to Bone fractures.
* Authoritative information in orthopaedic surgery American Association of Orthopedic Surgeons (AAOS)
* Radiographic Atlas of Fracture
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
* v
* t
* e
Trauma
Principles
* Polytrauma
* Major trauma
* Traumatology
* Triage
* Resuscitation
* Trauma triad of death
Assessment
Clinical prediction rules
* Revised Trauma Score
* Injury Severity Score
* Abbreviated Injury Scale
* NACA score
Investigations
* Diagnostic peritoneal lavage
* Focused assessment with sonography for trauma
Management
Principles
* Advanced trauma life support
* Trauma surgery
* Trauma center
* Trauma team
* Damage control surgery
* Early appropriate care
Procedures
* Resuscitative thoracotomy
Pathophysiology
Injury
* MSK
* Bone fracture
* Joint dislocation
* Degloving
* Soft tissue injury
* Resp
* Flail chest
* Pneumothorax
* Hemothorax
* Diaphragmatic rupture
* Pulmonary contusion
* Cardio
* Internal bleeding
* Thoracic aorta injury
* Cardiac tamponade
* GI
* Blunt kidney trauma
* Ruptured spleen
* Neuro
* Penetrating head injury
* Traumatic brain injury
* Intracranial hemorrhage
Mechanism
* Blast injury
* Blunt trauma
* Burn
* Penetrating trauma
* Crush injury
* Stab wound
* Ballistic trauma
* Electrocution
Region
* Abdominal trauma
* Chest trauma
* Facial trauma
* Head injury
* Spinal cord injury
Demographic
* Geriatric trauma
* Pediatric trauma
Complications
* Posttraumatic stress disorder
* Wound healing
* Acute lung injury
* Crush syndrome
* Rhabdomyolysis
* Compartment syndrome
* Contracture
* Volkmann's contracture
* Embolism
* air
* fat
* Chronic traumatic encephalopathy
* Subcutaneous emphysema
Authority control
* GND: 4031318-9
* LCCN: sh85051155
* NDL: 00566749
*[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
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Bone fracture
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https://en.wikipedia.org/wiki/Bone_fracture
| 2021-01-18T18:35:17 |
{"mesh": ["D050723"], "umls": ["C0016658"], "icd-9": ["829"], "icd-10": ["S72", "S62", "S02", "S52", "S22", "S12", "S42", "S92", "S32", "S82"], "wikidata": ["Q68833"]}
|
A number sign (#) is used with this entry because of evidence that acrocapitofemoral dysplasia (ACFD) is caused by homozygous mutation in the IHH gene (600726) on chromosome 2q35.
Clinical Features
Mortier et al. (2003) described 4 patients from 2 consanguineous pedigrees, 1 Belgian and 1 Dutch, with a theretofore undescribed autosomal recessive skeletal dysplasia, which they termed acrocapitofemoral dysplasia. The clinical phenotype is characterized by short stature of variable severity with postnatal onset. The height, measured at various ages, ranged from 2.3 to 8.6 standard deviations (SD) below the mean (-2.3 to -8.6 SD). All 4 cases showed short limbs with brachydactyly. The head circumference was relatively large. The thorax was narrow, and 2 patients had pectus deformities. Only 1 patient had genu vara. The patients did not show associated congenital anomalies, and a11 had normal intellect. The most striking and constant radiographic abnormalities were observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion resulted in shortening of the skeletal components involved. Cone-shaped epiphyses were also present to a variable extent at the shoulders, knees, and ankles. The cone-shaped epiphyses appeared early in childhood and disappeared with premature fusion of the growth plate. The spine was only mildly involved, with a slightly ovoid appearance of the vertebral bodies. Mortier et al. (2003) reported that the hips presented the most characteristic radiographic appearance of this condition. The proximal femoral epiphysis developed, around the age of 2 years, a small, thorn-like outgrowth pointing to the center of the femoral neck, resembling a tear drop but also, to some extent, reminiscent of a cone-shaped epiphysis. This was followed by premature epimetaphyseal fusion resulting, between the age of 3 to 5 years, in an egg-shaped femoral head attached to a very short femoral neck with a collar-like, small bony outgrowth.
Mapping
Hellemans et al. (2003) performed genomewide homozygosity mapping in the 2 consanguineous families reported by Mortier et al. (2003) and found linkage to a locus at 2q35-q36 with a maximum 2-point lod score of 8.02 at marker D2S2248. Two recombination events defined the minimal critical region between markers D2S2248 and D2S2151 (3.74 cM).
Molecular Genetics
Using a candidate gene approach, Hellemans et al. (2003) identified 2 missense mutations in the N-terminal signaling domain of the IHH gene. Both affected individuals in the Belgian family were homozygous for a 137C-T transition resulting in a proline-to-leucine substitution at codon 46 (600726.0005), and the 3 patients in the Dutch family were homozygous for a 569T-C transition resulting in a valine-to-alanine substitution at codon 190 (600726.0006). The 2 mutant amino acids are strongly conserved and predicted to be located outside the region where brachydactyly type A1 (112500) mutations are clustered.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature, disproportionate \- Short-limbed dwarfism \- Normal birth length HEAD & NECK Head \- Relatively large head CHEST External Features \- Narrow thorax Ribs Sternum Clavicles & Scapulae \- Rib cupping \- Pectus excavatum \- Pectus carinatum SKELETAL Spine \- Lumbar hyperlordosis \- Ovoid vertebral bodies \- Anterior notching of vertebral bodies Pelvis \- Cone-shaped epiphyses (proximal femur) \- Egg-shaped femoral head \- Short femoral neck \- Coxa vara \- Short, flared iliac wings Limbs \- Short limbs \- Cone-shaped epiphyses (proximal and distal tibia) \- Genu varum \- Varus deformity (humeral head) \- Large distal femoral epiphyses Hands \- Brachydactyly \- Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges) \- Short middle and distal phalanges \- Short hands \- Delayed carpal bone age Feet \- Cone-shaped epiphyses (ankles) SKIN, NAILS, & HAIR Nails \- Small finger nails \- Broad fingernails NEUROLOGIC Central Nervous System \- Normal intelligence MISCELLANEOUS \- Allelic to brachydactyly, type A1 ( 112500 ) \- Cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty MOLECULAR BASIS \- Caused by mutation in the Indian hedgehog gene (IHH, 600726.0005 ) ▲ 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
|
ACROCAPITOFEMORAL DYSPLASIA
|
c1843096
| 7,677 |
omim
|
https://www.omim.org/entry/607778
| 2019-09-22T16:08:45 |
{"doid": ["0050604"], "mesh": ["C564334"], "omim": ["607778"], "orphanet": ["63446"]}
|
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Ruijs-Aalfs syndrome
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyMedical genetics
CausesMutations in the SPRTN gene
Ruijs-Aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathopysiology
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 References
## Signs and symptoms[edit]
The main features of this condition are evident in skeleton and face[1]
Facial features:
* Triangular face
* Small frontotemporal diameter
* Small deep set eyes
* Bulbous nose with high nasal bridge
* Small upper lip
* Micrognathia
Skeletal features:
* Thoracic kyphoscoliosis
* Sloping shoulders
* Pectus excavatum
* Elbow contractures
* Clinodactyly
* Pes planus
* Delayed bone age
Other associated conditions:
* Lipodystrophy
* Simian creases
All three patients developed liver cancer (hepatoma) in the teens.
## Genetics[edit]
This condition has been associated with mutations in the Spartan gene (SPRTN). This gene is located on the long arm of chromosome 1 (1q42.2). The gene SPRTN encodes the DNA dependent metalloprotease Spartan. Spartan is intimately involved in the repair of protein-linked DNA breaks.[2]
## Pathopysiology[edit]
This is not understood.
## Diagnosis[edit]
This syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the SPRTN gene
### Differential diagnosis[edit]
* Werner syndrome
## Treatment[edit]
There is no specific treatment for this condition. Management is supportive.
## Epidemiology[edit]
This condition is considered to be rare with only 3 cases reported in the literature.
## History[edit]
This condition was first described in 2003.[3]
## References[edit]
1. ^ Lessel D, Vaz, B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera, E, Freire R, et al (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet. 46: 1239-1244
2. ^ Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi:10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID 31331820
3. ^ Ruijs MWG, van Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299
*[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
|
Ruijs-Aalfs syndrome
|
c4015461
| 7,678 |
wikipedia
|
https://en.wikipedia.org/wiki/Ruijs-Aalfs_syndrome
| 2021-01-18T18:44:07 |
{"umls": ["C4015461"], "orphanet": ["435953"], "wikidata": ["Q55784868"]}
|
Bloody show is the passage of a small amount of blood or blood-tinged mucus through the vagina near the end of pregnancy. It is caused by the detachment of the cervical mucus plug that seals the cervix during pregnancy,[1] and is one of the signs that labor may be imminent.[2] Although the bloody show is a common and harmless cause of bleeding in late pregnancy, there are many other possible causes for vaginal bleeding, some of which may indicate serious medical problems such as miscarriage or placental abruption, and vaginal bleeding should not be ignored as a possible sign of serious complications.[3][4]
## See also[edit]
* Antepartum hemorrhage
* Obstetrical hemorrhage
## References[edit]
1. ^ "Vaginal birth - series—Indications: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2018-10-17.
2. ^ "Am I in labor?: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2018-10-17.
3. ^ McKennett, M; Fullerton, JT (February 1995). "Vaginal bleeding in pregnancy". American Family Physician. 51 (3): 639–46. ISSN 0002-838X. PMID 7863960.
4. ^ "Vaginal bleeding in pregnancy". nhs.uk. 2017-12-21. Retrieved 2018-10-17.
* v
* t
* e
Pregnancy and childbirth
Planning
* Birth control
* Natural family planning
* Pre-conception counseling
Conception
* Assisted reproductive technology
* Artificial insemination
* Fertility medication
* In vitro fertilisation
* Fertility awareness
* Unintended pregnancy
Testing
* 3D ultrasound
* Obstetric ultrasonography
* Pregnancy test
* Home testing
* Prenatal diagnosis
Prenatal
Anatomy
* Amniotic fluid
* Amniotic sac
* Endometrium
* Placenta
Development
* Fundal height
* Gestational age
* Human embryogenesis
* Maternal physiological changes
* Postpartum physiological changes
Care
* Nutrition
* Environmental toxicants
* In pregnancy
* Prenatal
* Concomitant conditions
* Drinking
* Diabetes mellitus
* Smoking
* Vaping
* SLE
* Sexual activity during pregnancy
Procedures
* Amniocentesis
* Cardiotocography
* Chorionic villus sampling
* Nonstress test
* Abortion
Childbirth
Preparation
* Bradley method
* Hypnobirthing
* Lamaze
* Nesting instinct
Roles
* Doula
* Birth attendant
* Men's roles
* Midwife
* Obstetrician
* Perinatal nurse
* Traditional birth attendant
Delivery
* Bloody show
* Childbirth positions
* Home birth
* Multiple birth
* Natural childbirth
* Pelvimetry / Bishop score
* Cervical dilation
* Cervical effacement
* Position
* Presentation
* Breech
* Cephalic
* Shoulder
* Rupture of membranes
* Unassisted childbirth
* Uterine contraction
* Water birth
Postpartum
Maternal
* Postpartum confinement
* Sex after pregnancy
* Psychiatric disorders of childbirth
* Postpartum physiological changes
Roles
* Doula
* Health visitor
* Lactation consultant
* Monthly nurse
* Confinement nanny
Infant
* Adaptation to extrauterine life
* Child care
* Congenital disorders
Obstetric history
* Gravidity and parity
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This medical symptom 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
|
Bloody show
|
None
| 7,679 |
wikipedia
|
https://en.wikipedia.org/wiki/Bloody_show
| 2021-01-18T19:00:42 |
{"wikidata": ["Q184788"]}
|
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Jawad syndrome
|
c0796063
| 7,680 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313795
| 2021-01-23T18:34:07 |
{"mesh": ["C567101"], "omim": ["251255"], "umls": ["C0796063"]}
|
In 4 male first cousins in 3 sibships connected through females, Christian et al. (1977) observed skeletal dysplasia, mental retardation, and abducens palsy. The skeletal abnormalities included short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, and short middle phalanges. Three had glucose intolerance and one was born with imperforate anus. Of 5 obligate female carriers studied, 3 had fusion of cervical vertebrae, 3 had short middle phalanges, and 3 had glucose intolerance. The illustrations of affected males showed broad nasal bridge. Compare 305450, 307500, 309580. Studies by Dlouhy et al. (1987) indicated that the mutation is located in Xq28-qter, linked to DXS52 and DXS15 (maximum lod scores at theta = 0 of 3.27 and 3.06, respectively). Both DXS52 and DXS15 map to Xq28.
Skel \- Ridging of metopic suture \- Fused cervical vertebrae \- Thoracic hemivertebrae \- Scoliosis \- Sacral hypoplasia Limbs \- Short middle phalanges Growth \- Short stature Neuro \- Mental-retardation \- Abducens palsy \- Cranial nerve VI palsy Nose \- Broad nasal bridge Endo \- Glucose intolerance Inheritance \- X-linked (Xq28-qter) GI \- Imperforate anus ▲ 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
|
MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY
|
c1839729
| 7,681 |
omim
|
https://www.omim.org/entry/309620
| 2019-09-22T16:17:52 |
{"mesh": ["C564101"], "omim": ["309620"], "orphanet": ["1436"], "synonyms": ["Christian syndrome", "Alternative titles", "CHRISTIAN SYNDROME"]}
|
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare condition that primarily affects the bones and skin. People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles. Other common features include hypophosphatemia which can be associated with bone pain, limb length discrepancies, bone deformities, and impaired mobility. CSHS occurs sporadically in people with no family history of the condition. It is caused by somatic mutations in the RAS genes. Medications such as Calcitrol and phosphate supplementation are typically prescribed to treat the signs and symptoms of the condition. However, more directed therapies are in development.
*[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
|
Cutaneous-skeletal hypophosphatemia syndrome
|
None
| 7,682 |
gard
|
https://rarediseases.info.nih.gov/diseases/12392/cutaneous-skeletal-hypophosphatemia-syndrome
| 2021-01-18T18:01:00 |
{"synonyms": []}
|
A Rich focus is a tuberculous granuloma occurring within the cortex or meninges of the brain that ruptures into the subarachnoid space, causing tuberculous meningitis.[1] The Rich focus is named for Arnold Rice Rich, a pathologist at Johns Hopkins Hospital, who along with his colleague Howard McCordock first described the post-mortem finding of caseous foci within the cerebral cortex or meninges which appeared to predate the development of meningitis.[2] Prior to their research the prevailing view had been that meningitis occurred as a result of the dissemination of tuberculous bacilli associated with miliary tuberculosis and that these processes occurred at the same time.
## Developments[edit]
More recently a more comprehensive classification of the pathogenesis of tuberculous meningitis has been proposed by Donald et al.:[1]
1. A Rich focus develops as a result of haematogenous dissemination from the primary complex, including miliary tuberculousis, subsequently rupturing into the sub-arachnoid space.
2. A Rich focus develops within the choroid plexus or ventricular walls as a result of haematogenous dissemination.
3. The mechanism described by Rich and McCordock in which haematogenous dissemination at the time of infection, or later, results in development of a Rich focus which is initially controlled but later ruptures into the subarachnoid space.
4. Direct extension from an adjacent structure such as the vertebrae results in development of meningitis.
## References[edit]
1. ^ a b Donald PR, Schaaf HS, Schoeman JF (April 2005). "Tuberculous meningitis and miliary tuberculosis: the Rich focus revisited". J. Infect. 50 (3): 193–5. doi:10.1016/j.jinf.2004.02.010. PMID 15780412.
2. ^ Rich AR, McCordock HA (1933). "The pathogenesis of tuberculous meningitis". Bull. Johns Hopkins Hosp. 52 (1): 2–37.
* v
* t
* e
Gram-positive bacterial infection: Actinobacteria
Actinomycineae
Actinomycetaceae
* Actinomyces israelii
* Actinomycosis
* Cutaneous actinomycosis
* Tropheryma whipplei
* Whipple's disease
* Arcanobacterium haemolyticum
* Arcanobacterium haemolyticum infection
* Actinomyces gerencseriae
Propionibacteriaceae
* Propionibacterium acnes
Corynebacterineae
Mycobacteriaceae
M. tuberculosis/
M. bovis
* Tuberculosis: Ghon focus/Ghon's complex
* Pott disease
* brain
* Meningitis
* Rich focus
* Tuberculous lymphadenitis
* Tuberculous cervical lymphadenitis
* cutaneous
* Scrofuloderma
* Erythema induratum
* Lupus vulgaris
* Prosector's wart
* Tuberculosis cutis orificialis
* Tuberculous cellulitis
* Tuberculous gumma
* Lichen scrofulosorum
* Tuberculid
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Miliary
* Tuberculous pericarditis
* Urogenital tuberculosis
* Multi-drug-resistant tuberculosis
* Extensively drug-resistant tuberculosis
M. leprae
* Leprosy: Tuberculoid leprosy
* Borderline tuberculoid leprosy
* Borderline leprosy
* Borderline lepromatous leprosy
* Lepromatous leprosy
* Histoid leprosy
Nontuberculous
R1:
* M. kansasii
* M. marinum
* Aquarium granuloma
R2:
* M. gordonae
R3:
* M. avium complex/Mycobacterium avium/Mycobacterium intracellulare/MAP
* MAI infection
* M. ulcerans
* Buruli ulcer
* M. haemophilum
R4/RG:
* M. fortuitum
* M. chelonae
* M. abscessus
Nocardiaceae
* Nocardia asteroides/Nocardia brasiliensis/Nocardia farcinica
* Nocardiosis
* Rhodococcus equi
Corynebacteriaceae
* Corynebacterium diphtheriae
* Diphtheria
* Corynebacterium minutissimum
* Erythrasma
* Corynebacterium jeikeium
* Group JK corynebacterium sepsis
Bifidobacteriaceae
* Gardnerella vaginalis
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
|
Rich focus
|
None
| 7,683 |
wikipedia
|
https://en.wikipedia.org/wiki/Rich_focus
| 2021-01-18T18:55:38 |
{"wikidata": ["Q7323489"]}
|
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
FLOTCH syndrome
|
c2931411
| 7,684 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2045
| 2021-01-23T18:16:33 |
{"gard": ["2346"], "mesh": ["C537065"], "umls": ["C2931411"], "icd-10": ["L60.8"], "synonyms": ["Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"]}
|
Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.
*[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
|
Karyomegalic interstitial nephritis
|
c3553774
| 7,685 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401996
| 2021-01-23T18:34:46 |
{"gard": ["11003"], "omim": ["614817"], "icd-10": ["N11.8"], "synonyms": ["KIN", "Systemic karyomegaly"]}
|
For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A (600638).
Cytogenetics
Aubourg et al. (2005) reported a 3-generation family with a phenotype consistent with autosomal dominant CFEOM3 cosegregating with a balanced/unbalanced reciprocal translocation t(2;13)(q37.3;q12.11). Affected individuals exhibited congenital bilateral ptosis and limitation of the superior rectus; 2 also had bilateral excyclotropia. The rearrangement was balanced in 3 affected individuals and unbalanced in 1 affected girl who presented with syndromic CFEOM with mental retardation and facial dysmorphism reminiscent of Albright hereditary osteodystrophy-like syndrome (600430), which has been associated with 2qter deletions but does not include ptosis. Aubourg et al. (2005) stated that the ptosis is presumably due to loss of heterozygosity at chromosome 13q.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Ptosis, congenital bilateral \- Restrictive partial ophthalmoplegia \- Inability to raise eyes above horizontal midline LABORATORY ABNORMALITIES \- Balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) MISCELLANEOUS \- Unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation ▲ 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
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C
|
c1302995
| 7,686 |
omim
|
https://www.omim.org/entry/609384
| 2019-09-22T16:06:05 |
{"doid": ["0080143"], "mesh": ["C580012"], "omim": ["609384"], "orphanet": ["45358"], "synonyms": ["Alternative titles", "FEOM4 LOCUS"], "genereviews": ["NBK1348"]}
|
A hernia—the hole in the light-colored wall of tissue—can trap loops of the bowel or other tissue.
Internal hernias occur when there is protrusion of an internal organ into a retroperitoneal fossa or a foramen (congenital or acquired) in the abdominal cavity. If a loop of bowel passes through the mesenteric defect, that loop is at risk for incarceration, strangulation, or for becoming the lead point of a small bowel obstruction.[1] Internal hernias can also trap adipose tissue (fat) and nerves. Unlike more common forms of hernias, the trapped tissue protrudes inward, rather than outward.[2]
Mesenteric defects commonly occur in trauma, such as gunshot wounds to the abdomen. In trauma victims, the defect is usually closed, sometimes with resection of the associated bowel, which may have lost its blood supply.[1] Also mesenteric defects are intentionally created in the Roux-en-Y gastric bypass procedure, being classically known as a Petersen's hernia.[3] The mesenteric defect in such cases, called Petersen's defect, is located between the transverse colon and the mesentery of the alimentary limb (the segment of the jejunum from the jejunojejunostomy until the connection with the proximal segment of the stomach) at the level of the jejunojejunostomy.[4]
Internal hernias are difficult to identify in women, and misdiagnosis with endometriosis or idiopathic chronic pelvic pain is very common. One cause of misdiagnosis that when the woman lies down flat on an examination table, all of the medical signs of the hernia disappear. The hernia can typically only be detected when symptoms are present, so diagnosis requires positioning the woman's body in a way that provokes symptoms.
Both internal hernias and umbilical hernias are more common in women than men.[2]
## References[edit]
1. ^ a b Bittner JG, Edwards MA, Harrison SJ, Li K, Karmin PN, Mellinger JD (2009). "Laparoscopic repair of a right paraduodenal hernia". JSLS. 13 (2): 242–9. PMC 3015939. PMID 19660226.[permanent dead link]
2. ^ a b Brody, Jane E (18 May 2011). "In women, hernias may be hidden agony". St. Louis Post-Dispatch.
3. ^ Petersen W (1900). "Über Darmverschlinung nach der Gastroenterostomie". Arch Klin Chir. 62: 94–114.
4. ^ Cho, M; Pinto, D; Carrodeguas, L; Lascano, C; Soto, F; Whipple, O; Simpfendorfer, C; Gonzalvo, JP; Zundel, N (2006). "Frequency and management of internal hernias after laparoscopic antecolic antegastric Roux-en-Y gastric bypass without division of the small bowel mesentery or closure of mesenteric defects: Review of 1400 consecutive cases". Surgery for Obesity and Related Diseases. 2 (2): 87–91. doi:10.1016/j.soard.2005.11.004. PMID 16925328.
*[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
|
Internal hernia
|
c0178282
| 7,687 |
wikipedia
|
https://en.wikipedia.org/wiki/Internal_hernia
| 2021-01-18T19:01:33 |
{"mesh": ["D046449"], "umls": ["C0178282"], "wikidata": ["Q6047861"]}
|
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
*[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
|
Neonatal epileptic encephalopathy due to glutaminase deficiency
|
None
| 7,688 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=557064
| 2021-01-23T18:18:34 |
{"omim": ["618328"], "icd-10": ["G40.4"]}
|
Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.
*[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
|
Non-herpetic acute limbic encephalitis
|
c4707262
| 7,689 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163924
| 2021-01-23T17:44:56 |
{"icd-10": ["G04.8"]}
|
## Clinical Features
Froster et al. (1996) described a 'possibly new' autosomal recessive syndrome in 4 successive fetuses (2 females; 2 males) from a healthy nonconsanguineous couple. Both prenatal and postnatal findings were reported. The spectrum of malformations included diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defect of the skull. The specific spectrum of anomalies was not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. The limb anomalies were more severe in the 2 last born fetuses. The diaphragmatic defect, which was of postural lateral Bochdalek type, was found in all 4. Gonadal mosaicism in 1 parent was mentioned as a possible alternative to autosomal recessive inheritance.
Koifman et al. (2009) reported a female fetus diagnosed prenatally with left diaphragmatic hernia and absence of the right femur. Family history was unremarkable and the parents were not related. The pregnancy was terminated, and on autopsy the fetus was found to have complete absence of the right femur and a left diaphragmatic hernia. The only other abnormality observed was bilateral fifth finger clinodactyly. The authors proposed that the infant had the same condition as the sibs reported by Froster et al. (1996) and suggested that the condition be called Froster syndrome.
Gardham et al. (2013) reported 2 sibs, born to healthy nonconsanguineous parents, with features similar to those in the patients reported by Froster et al. (1996) and Koifman et al. (2009). The first, a male fetus, was found on prenatal ultrasonography to have multiple congenital anomalies. Pathologic examination following pregnancy termination showed bilateral diaphragmatic hernia, limb hypoplasia, omphalocele, partial intestinal malrotation, absent right pelvic bone with a single long bone in the right leg, and right testicular atrophy. In addition, the fetus had mild hypertelorism, low-set ears, and an upturned nose. The second sib, a female fetus, was also found on prenatal ultrasonography to have a diaphragmatic hernia. Following pregnancy termination, pathologic examination showed bilateral diaphragmatic hernia with lung hypoplasia. No other abnormalities were observed. A maternally inherited 1.2-Mb duplication in chromosome 8p22 was seen in the female sib on oligonucleotide microarray, but was believed to be a benign copy number variant.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Low-set ears Eyes \- Hypertelorism, mild Nose \- Upturned nose RESPIRATORY Lung \- Pulmonary hypoplasia associated with diaphragmatic hernia CHEST Diaphragm \- Diaphragmatic hernia ABDOMEN Gastrointestinal \- Omphalocele \- Intestinal malrotation GENITOURINARY Internal Genitalia (Male) \- Testicular atrophy SKELETAL Skull \- Ossification defect of skull Limbs \- Limb deformities \- Limb hypoplasia \- Limb amelia Hands \- Fifth finger clinodactyly \- Syndactyly Feet \- Syndactyly ▲ 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
|
DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL
|
c1832668
| 7,690 |
omim
|
https://www.omim.org/entry/601163
| 2019-09-22T16:15:17 |
{"mesh": ["C563380"], "omim": ["601163"], "orphanet": ["2141"], "synonyms": ["Alternative titles", "FROSTER SYNDROME"]}
|
A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor 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
|
Anaplastic oligoastrocytoma
|
c0431108
| 7,691 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251663
| 2021-01-23T17:39:19 |
{"gard": ["10637"], "umls": ["C0431108"], "icd-10": ["C71.9"], "synonyms": ["aMOA"]}
|
A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.
*[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
|
Myospherulosis
|
c0027123
| 7,692 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306553
| 2021-01-23T17:00:48 |
{"umls": ["C0027123"], "synonyms": ["Spherulocytosis", "Subcutaneous spherulocystic disease"]}
|
Drug-induced autoimmune heamolytic anemia
SpecialtyHematology
Drug-induced autoimmune hemolytic anemia is a form of hemolytic anemia.
In some cases, a drug can cause the immune system to mistakenly think the body's own red blood cells are dangerous, foreign substances. Antibodies then develop against the red blood cells. The antibodies attach to red blood cells and cause them to break down too early. It is known that more than 150 drugs can cause this type of hemolytic anemia.[1] The list includes :
* Cephalosporins (a class of antibiotics)
* Dapsone
* Levodopa
* Levofloxacin
* Methyldopa
* Nitrofurantoin
* Nonsteroidal anti-inflammatory drugs (NSAIDs) - among them, the commonly used Diclofenac and Ibuprofen
* Phenazopyridine (pyridium)
* Quinidine[2]
Penicillin in high doses can induce immune mediated hemolysis[3] via the hapten mechanism in which antibodies are targeted against the combination of penicillin in association with red blood cells. Complement is activated by the attached antibody leading to the removal of red blood cells by the spleen.[citation needed]
The drug itself can be targeted by the immune system, e.g. by IgE in a Type I hypersensitivity reaction to penicillin, rarely leading to anaphylaxis.[citation needed]
## See also[edit]
* List of circulatory system conditions
* List of hematologic conditions
## References[edit]
1. ^ Barcellini, Wilma (2015-10-01). "Immune Hemolysis: Diagnosis and Treatment Recommendations". Seminars in Hematology. Anemia in Clinical Practice. 52 (4): 304–312. doi:10.1053/j.seminhematol.2015.05.001. ISSN 0037-1963.
2. ^ MedlinePlus Encyclopedia: Drug-induced immune hemolytic anemia
3. ^ Stroncek, David; Procter, Jo L.; Johnson, Judy (2000). "Drug-induced hemolysis: Cefotetan-dependent hemolytic anemia mimicking an acute intravascular immune transfusion reaction". American Journal of Hematology. 64 (1): 67–70. doi:10.1002/(SICI)1096-8652(200005)64:1<67::AID-AJH12>3.0.CO;2-Z. PMID 10815791.
## External links[edit]
Classification
D
* ICD-10: D59.0
* ICD-9-CM: 283
* v
* t
* e
Diseases of red blood cells
↑
Polycythemia
* Polycythemia vera
↓
Anemia
Nutritional
* Micro-: Iron-deficiency anemia
* Plummer–Vinson syndrome
* Macro-: Megaloblastic anemia
* Pernicious anemia
Hemolytic
(mostly normo-)
Hereditary
* enzymopathy: Glucose-6-phosphate dehydrogenase deficiency
* glycolysis
* pyruvate kinase deficiency
* triosephosphate isomerase deficiency
* hexokinase deficiency
* hemoglobinopathy: Thalassemia
* alpha
* beta
* delta
* Sickle cell disease/trait
* Hereditary persistence of fetal hemoglobin
* membrane: Hereditary spherocytosis
* Minkowski–Chauffard syndrome
* Hereditary elliptocytosis
* Southeast Asian ovalocytosis
* Hereditary stomatocytosis
Acquired
AIHA
* Warm antibody autoimmune hemolytic anemia
* Cold agglutinin disease
* Donath–Landsteiner hemolytic anemia
* Paroxysmal cold hemoglobinuria
* Mixed autoimmune hemolytic anemia
* membrane
* paroxysmal nocturnal hemoglobinuria
* Microangiopathic hemolytic anemia
* Thrombotic microangiopathy
* Hemolytic–uremic syndrome
* Drug-induced autoimmune
* Drug-induced nonautoimmune
* Hemolytic disease of the newborn
Aplastic
(mostly normo-)
* Hereditary: Fanconi anemia
* Diamond–Blackfan anemia
* Acquired: Pure red cell aplasia
* Sideroblastic anemia
* Myelophthisic
Blood tests
* Mean corpuscular volume
* normocytic
* microcytic
* macrocytic
* Mean corpuscular hemoglobin concentration
* normochromic
* hypochromic
Other
* Methemoglobinemia
* Sulfhemoglobinemia
* Reticulocytopenia
*[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
|
Drug-induced autoimmune hemolytic anemia
|
c0391817
| 7,693 |
wikipedia
|
https://en.wikipedia.org/wiki/Drug-induced_autoimmune_hemolytic_anemia
| 2021-01-18T19:08:47 |
{"umls": ["C0391817"], "icd-9": ["283"], "icd-10": ["D59.0"], "orphanet": ["90037"], "wikidata": ["Q5308809"]}
|
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Overactive disorder associated with mental retardation and stereotyped movements
SpecialtyPsychiatry
Overactive disorder associated with mental retardation and stereotyped movements is a pervasive developmental disorder (PDD) listed in Chapter V (five) of the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10); its diagnostic code is F84.4.
## Contents
* 1 ICD-10 clinical description
* 2 See also
* 3 References
* 4 External links
## ICD-10 clinical description[edit]
This is an ill-defined disorder of uncertain nosological validity. The category is included here because of the evidence that children with moderate to severe intellectual disability (IQ below 35) who exhibit major problems in hyperactivity and inattention frequently show stereotyped behaviours; such children tend not to benefit from stimulant drugs (unlike those with an IQ in the normal range) and may exhibit a severe dysphoric reaction (sometimes with psychomotor retardation) when given stimulants; in adolescence the overactivity tends to be replaced by underactivity (a pattern that is not usual in hyperkinetic children with normal intelligence). It is also common for the syndrome to be associated with a variety of developmental delays, either specific or global. The extent to which the behavioural pattern is a function of low IQ or of organic brain damage is not known, neither is it clear whether the disorders in children with mild intellectual disability who show the hyperkinetic syndrome would be better classified here or under F90.- (Hyperkinetic disorders); at present they are included in F90-.
Diagnostic guidelines
Diagnosis depends on the combination of developmentally inappropriate severe overactivity, motor stereotypies, and moderate to severe intellectual disability; all three must be present for the diagnosis. If the diagnostic criteria for F84.0 (childhood autism), F84.1 (atypical autism) or F84.2 (Rett's syndrome) are met, that condition should be diagnosed instead.
## See also[edit]
* Attention deficit hyperactivity disorder
* Autism
* Intellectual disability
## References[edit]
## External links[edit]
Classification
D
* ICD-10: F84.4
This disability-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
|
Overactive disorder associated with mental retardation and stereotyped movements
|
c0349330
| 7,694 |
wikipedia
|
https://en.wikipedia.org/wiki/Overactive_disorder_associated_with_mental_retardation_and_stereotyped_movements
| 2021-01-18T18:34:24 |
{"umls": ["C0349330", "C3263955"], "icd-10": ["F84.4"], "wikidata": ["Q9385429"]}
|
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
## Epidemiology
The syndrome is extremely rare and only four cases have been reported in the literature so far.
## Clinical description
Addition clinical features include microcephaly, adiposity, and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. A case of partial IGF-I deficiency has also been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild and hearing tests were normal.
## Etiology
IGF-I deficiency is caused by homozygous mutations in the insulin-like growth factor 1 gene (IGFI; 12q22-q24.1). IGF-I is essential for foetal and postnatal growth, brain development and metabolism.
## Diagnostic methods
Diagnosis relies on direct sequencing of the five IGF1 exons and of the intron-exon junctions. Measurement of IGF-I levels can be used for diagnosis but the circulating levels of IGF-I vary between patients (ranging from undetectable, low to very high) depending on the molecular defect present and on the immunoassay used.
## Differential diagnosis
The differential diagnosis should include growth hormone deficiency and growth hormone resistance (caused by GH receptor or STAT5b anomalies), growth delay due to insulin-like growth factor I resistance and primary acid-labile subunit (ALS) deficiency syndrome (see these terms), as well as secondary IGF-I deficiency due to nutritional problems.
## Antenatal diagnosis
Prenatal diagnosis is feasible for families with an identified IGF1 mutation proven to be responsible for the disease phenotype of intrauterine and postnatal growth delay associated with intellectual deficit.
## Genetic counseling
IGF-I deficiency is transmitted as an autosomal recessive trait. Affected families should be offered genetic counselling and informed of a 25% risk of recurrence.
## Management and treatment
Management involves nutritional and developmental support, together with screening for deafness. Growth velocity in patients with partial IGF-I deficiency can be increased by recombinant growth hormone (GH) therapy. Recombinant IGF-I therapy can be used in patients with complete IGF-I deficiency or those showing an insufficient response to recombinant GH treatment.
*[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
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
c1837475
| 7,695 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73272
| 2021-01-23T18:09:43 |
{"gard": ["10627"], "mesh": ["C563867"], "omim": ["608747"], "umls": ["C1837475"], "icd-10": ["E34.3"], "synonyms": ["Growth delay-deafness-intellectual disability syndrome", "Growth delay-hearing loss-intellectual disability syndrome", "IGF-1 deficiency", "Primary insulin-like growth factor deficiency"]}
|
A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).
## Epidemiology
The annual incidence in Central European countries is estimated to be approximately 1/1,000,000.
## Clinical description
The disease may occur at any age with diagnosis most frequently made between 50 to 60 years of age. The clinical picture is variable. The following symptoms are frequent but not necessarily observed in each patient: weight loss, polyarthritis, diarrhea/malabsorption, fever, lymphadenopathy, cardiac valvular disease, culture-negative endocarditis, pleuritis, ocular inflammatory disease, and relapsing tenosynovitis. In some cases, complex cerebral manifestations (such as cognitive dysfunction, ophthalmoplegia and myoclonus) can be observed. TW polyarthritis is typically palindromic; however, atypical courses may also occur.
## Etiology
TW has been found in sewage plant influx and efflux, and can be excreted in the stool of healthy carriers, of sewage plant workers and of people living in precarious hygienic conditions. The circumstances facilitating infection and disease are unknown, but a genetic or acquired immunological predisposition is suspected.
## Diagnostic methods
The gold standard for diagnosis was the histological recognition by an experienced pathologist of free or phagocytised rod-shaped bacteria with periodic-acid-SCHIFF (PAS) staining in macrophages from the duodenal mucosa. However, the combination of PAS staining in an intestinal mucosal biopsy plus a validated specific real time polymerase chain reaction (PCR) for TW will raise sensitivity and specificity of the diagnosis. Cooperation with a laboratory, certified for PCR in Whipple's disease and routinely sequencing the amplification product of the PCR is recommended. Specific immunohistochemistry should be available. An isolated positive PCR in an intestinal mucosal biopsy or in a stool specimen is not sufficient for diagnosis. The diagnosis in extraintestinal tissue is always made by PCR. Immunohistochemistry can be very useful. A positive PCR in pulmonary alveolar lavage or from the oral cavity may mean colonization with TW and not necessarily infection. As the majority of patients with infected cerebrospinal fluid (CSF) are asymptomatic at the time of diagnosis, CSF should be examined with PCR in every patient before antibiotic treatment. Synovial fluid or synovial tissue should be examined by PCR for TW in patients with rheumatic symptoms as the intestinal mucosa is not always involved. Positive PAS staining in cerebral tissues should never be accepted as sole diagnostic tool.
## Differential diagnosis
The differential diagnosis includes inflammatory bowel disease, malabsorption syndrome, infectious diarrhea, mesenteric lymphadenitis, seronegative polyarthritis, soft tissue rheumatism, culture-negative endocarditis, vasculitis, lymphoma, cerebrovascular disease, demential processes, HIV infection, atypical mycobacteriosis, sarcoidosis, unclear cutaneous symptoms, exophthalmos and many others.
## Management and treatment
According to the only available prospective randomized trial, treatment should consist in: 2 g Ceftriaxon daily intravenously for 14 days, followed by Cotrimoxazol twice daily for 12 months. Control examination of CSF, when initially positive, after termination of treatment is strongly suggested. In recurrent or resistant cerebral infection, contact with a TW. specialist is recommended. Expert advice concerning treatment is indispensable in patients who have received immunosuppressive treatment prior to the diagnosis, including oral steroids, or when a clinical response to Ceftriaxone is not apparent within a few days. In such cases, the occurrence of an immune reconstitution inflammatory syndrome in Whipple's disease (IRIS) must be considered. Treatment with immunosuppressive agents may be lifesaving. Lifelong clinical, non-invasive observation is advised in effectively treated patients, as late recurrences or de novo infections can occur.
## Prognosis
Untreated, the disease is relentlessly progressive and leads to death either by wasting or by central nervous system involvement. The treatment schedule and follow up, detailed above, is mostly successful. Fatal courses can occur in patients with advanced cerebral involvement and in patients with the Immune Reconstitution Inflammatory Syndrome (IRIS).
*[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
|
Whipple disease
|
c0023788
| 7,696 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3452
| 2021-01-23T17:33:58 |
{"gard": ["7889"], "mesh": ["C531849", "D008061"], "umls": ["C0023788", "C2930851"], "icd-10": ["K90.8+", "M14.8*"], "synonyms": ["Intestinal lipodystrophy"]}
|
A number sign (#) is used with this entry because of evidence that fibrochondrogenesis-2 (FBCG2) can be caused by homozygous or heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Description
Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).
For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520).
Clinical Features
Tompson et al. (2012) reported 2 unrelated probands with fibrochondrogenesis who died at birth. The first patient was born of first-cousin parents of Saudi Arabian descent; the couple previously had an affected child and 2 unaffected children. The clinical phenotype consisted of midface hypoplasia with a small nose and anteverted nares, significant shortening of all limb segments with relatively normal hands and feet, and a small thorax with protuberant abdomen. Radiographs showed characteristic findings of fibrochondrogenesis, including severe shortening of the long bones with very widened metaphyses, moderate platyspondyly, delayed ossification of the cervical vertebral bodies, ischia, and pubis, short-cupped ribs giving a bell-shaped appearance to the thorax, and small ilia with irregular metaphysis. The second patient, who was the offspring of a nonconsanguineous phenotypically normal couple, displayed the typical facial features of fibrochondrogenesis, including a relatively large skull with a wide anterior fontanel, midface hypoplasia with a small nose and anteverted nares, and micrognathia. In addition, there was significant shortening of all limb segments with relatively normal hands and feet, and a small thorax with protuberant abdomen. Radiographs showed platyspondyly, shortening of the long bones with widened metaphyses, a bell-shaped thorax and short ribs with metaphyseal cupping, and hypoplastic ischia, pubis, and ilia. A lateral view of the spine showed posteriorly narrowed vertebral bodies consistent with fibrochondrogenesis.
Molecular Genetics
In a deceased infant with fibrochondrogenesis, who was born of consanguineous parents and known to be negative for mutation in the COL11A1 gene (120280), Tompson et al. (2012) performed whole-genome SNP genotyping and identified a 26.7-Mb block of homozygosity on chromosome 6p, a region containing the COL11A2 gene. Analysis of COL11A2 revealed homozygosity for a splice site mutation (120290.0012) that was present in heterozygosity in the unaffected parents and 1 unaffected sib. In another deceased infant with fibrochondrogenesis, born of nonconsanguineous healthy parents, who was known to be negative for mutation in the COL11A1 and COL2A1 (120140) genes, Tompson et al. (2012) identified a heterozygous 9-bp deletion in the COL11A2 gene (120290.0013).
INHERITANCE \- Autosomal dominant \- Autosomal recessive HEAD & NECK Face \- Midface hypoplasia \- Micrognathia Nose \- Small nose \- Anteverted nares RESPIRATORY Lung \- Respiratory compromise due to small size of thorax CHEST External Features \- Small thorax \- Bell-shaped thorax Ribs Sternum Clavicles & Scapulae \- Short ribs \- Metaphyseal cupping of ribs ABDOMEN External Features \- Protuberant abdomen SKELETAL Skull \- Relatively large skull Spine \- Platyspondyly \- Posteriorly narrowed vertebral bodies \- Delayed ossification of the cervical vertebral bodies (in some patients) Pelvis \- Hypoplastic ischia \- Delayed ossification of ischia \- Hypoplastic ilia \- Hypoplastic pubis \- Delayed ossification of pubis Limbs \- Shortening of the long bones \- Widened metaphyses MOLECULAR BASIS \- Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, 120290.0012 ) ▲ 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
|
FIBROCHONDROGENESIS 2
|
c0265282
| 7,697 |
omim
|
https://www.omim.org/entry/614524
| 2019-09-22T15:54:54 |
{"doid": ["0060465"], "mesh": ["C562524"], "omim": ["614524"], "orphanet": ["2021"]}
|
COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.
*[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
|
COACH syndrome
|
c1857662
| 7,698 |
gard
|
https://rarediseases.info.nih.gov/diseases/1410/coach-syndrome
| 2021-01-18T18:01:16 |
{"mesh": ["C536430"], "omim": ["216360"], "umls": ["C1857662"], "orphanet": ["1454"], "synonyms": ["Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis", "Joubert syndrome with congenital hepatic fibrosis", "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis", "Gentile syndrome", "Joubert syndrome with hepatic defect", "JS-H"]}
|
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-72 (RP72) is caused by homozygous mutation in the ZNF408 gene (616454) on chromosome 11p11.
Heterozygous mutation in the ZNF408 gene has been reported to cause exudative vitreoretinopathy (see EVR6, 616468).
For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Clinical Features
Avila-Fernandez et al. (2015) studied 3 patients from 2 unrelated Spanish families who presented with night blindness followed by visual field loss and decreased visual acuity. Two sisters, born of unaffected parents from the same small geographic area, had onset of symptoms at 30 and 40 years of age, whereas the unrelated male patient from a consanguineous family presented at 17 years of age. The reductions in visual fields ranged from 30 degrees to 10 degrees and were symmetric; best-corrected visual acuities ranged from 20/25 to 20/40. Visualization of fundi was blurred in all 3 patients due to vitreous condensations, but showed typical changes of RP with pale optic discs, narrowed vessels, and bone-spicule pigmentation.
Molecular Genetics
In 2 Spanish sisters with RP and minor vitreous abnormalities, 1 of whom was known to be negative for mutation in all autosomal recessive RP (arRP)-associated genes, Avila-Fernandez et al. (2015) performed homozygosity mapping followed by exome sequencing and identified homozygosity for a 2-bp deletion in the ZNF408 gene (616454.0003). The mutation was not found in 374 ethnically matched alleles or in the 1000 Genomes Project or Exome Variant Server databases. The unaffected parents were both deceased. Sequencing the ZNF408 gene in 217 additional Spanish probands with sporadic RP or arRP revealed homozygosity for a missense mutation (R541C; 616454.0004) in a 50-year-old man born of consanguineous parents. His unaffected son and daughter were both heterozygous for R541C; no retinal vasculature abnormalities were observed by funduscopic examination, fluorescein angiography, or optical coherence tomography (OCT). In 2 other probands, 2 heterozygous missense variants (G492R and Q583K) in ZNF408 were identified; these changes, which involved highly conserved residues, were not found in 75 in-house exomes. No second mutation or copy number variation was detected in DNA from these 2 patients, who were not available for further ophthalmologic examination.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Night blindness \- Constricted visual fields \- Decreased visual acuity \- Photophobia \- Posterior subcapsular cataract \- Blurring of fundus due to vitreous condensations \- Pale optic disc \- Attenuated vessels \- Bone-spicule pigmentation in midperiphery \- Poor pigmentation in lower hemiretina (in some patients) \- Atrophy of retinal pigment epithelium in midperiphery \- Peripapillary atrophy (in some patients) \- Preservation of macula \- Reduced or extinguished electroretinographic responses MISCELLANEOUS \- Variable age at onset of symptoms, from second to fifth decade of life MOLECULAR BASIS \- Caused by mutation in the zinc finger protein 408 gene (ZNF408, 616454.0003 ) ▲ 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
|
RETINITIS PIGMENTOSA 72
|
c0035334
| 7,699 |
omim
|
https://www.omim.org/entry/616469
| 2019-09-22T15:48:51 |
{"doid": ["0110395"], "mesh": ["D012174"], "omim": ["616469"], "orphanet": ["791"]}
|
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