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## Summary
### Clinical characteristics.
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
### Diagnosis/testing.
Diagnosis is based on clinical findings and molecular genetic testing. The four genes known to be associated with CFC syndrome are: BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%).
### Management.
Treatment of manifestations: Care by a multidisciplinary team; management of cardiac structural defects, hypertrophic cardiomyopathy, and arrhythmias as in the general population; increased ambient humidity or hydrating lotions for xerosis and pruritus; increased caloric intake and a nasogastric tube or gastrostomy for severe feeding problems; surgical intervention for severe gastroesophageal reflux; routine management of growth hormone deficiency, ocular abnormalities; management of seizures may require polytherapy; occupational therapy, physical therapy, and speech therapy as needed. Consensus medical management guidelines have been published.
Prevention of secondary complications: Antibiotic prophylaxis for subacute bacterial endocarditis primarily for those with valve dysplasias; evaluation for hypertrophic cardiomyopathy or a predisposition to cardiac rhythm disturbances prior to anesthesia.
Surveillance: Periodic echocardiogram (hypertrophic cardiomyopathy), electrocardiogram (rhythm disturbances), neurologic and eye examination, scoliosis check, and assessment of growth and cognitive development.
### Genetic counseling.
Cardiofaciocutaneous (CFC) syndrome is inherited in an autosomal dominant manner. Most affected individuals have CFC as the result of a de novo pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting a CFC-related pathogenic variant. Prenatal testing for pregnancies at risk is possible if the BRAF, MAP2K1, MAP2K2, or KRAS pathogenic variant has been identified in an affected family member.
## Diagnosis
Cardiofaciocutaneous (CFC) syndrome is one the RASopathies: a group of syndromes having overlapping clinical features resulting from a common pathogenetic mechanism [Tidyman & Rauen 2009a]. No diagnostic criteria have been established. The diagnosis of CFC syndrome is suspected by clinical findings and confirmed on molecular testing.
### Suggestive Findings
Cardiofaciocutaneous (CFC) syndrome should be suspected in individuals with the following phenotypic features involving the heart, face, and ectodermal structures:
* Cardiac. Pulmonic stenosis; atrial septal defects; ventricular septal defects; hypertrophic cardiomyopathy; heart valve anomalies (mitral valve dysplasia, tricuspid valve dysplasia, and bicuspid aortic valve); and rhythm disturbances. These defects may be identified at birth or diagnosed later. Hypertrophic cardiomyopathy may be progressive.
* Craniofacial. High forehead, relative macrocephaly, bitemporal narrowing, hypoplasia of the supraorbital ridges, ocular hypertelorism, telecanthus, downslanting palpebral fissures, epicanthal folds, ptosis, short nose with depressed bridge and anteverted nares, ear lobe creases, low-set ears that may be posteriorly rotated, deep philtrum, cupid's bow configuration of the upper lip, high-arched palate, relative micrognathia (Figure 1). The face is broader and longer, overall more coarse, than in Noonan syndrome (a clinically similar disorder often confused with CFC syndrome), but usually not as coarse as typically seen in Costello syndrome.
* Ectodermal
* Skin. Xerosis; hyperkeratosis of arms, legs, and face; ichthyosis; keratosis pilaris; ulerythema ophryogenes; eczema; hemangiomas; café-au-lait macules; erythema; pigmented moles; palmoplantar hyperkeratosis over pressure zones
* Hair. Sparse, curly, fine or thick, woolly or brittle; sparse to absent, or normal eyelashes and eyebrows
* Nails. Dystrophic with flat broad nails; nails may be fast growing.
#### Figure 1.
Children with CFC syndrome who have known pathogenic variants in BRAF or MAP2K2 A. Three young children with BRAF pathogenic variants: p.Thr470del, in exon 11 (left); p.Ser467Ala, in exon 11 (middle); and p.Gln257Arg, in exon 6 (right). Ages are 2.5, (more...)
Additional features variably present
* Musculoskeletal. Short neck, pterygium colli, pectus deformity, kyphosis, and/or scoliosis, pes planus
* Lymphatic. Lymphedema, chylothorax
* Ocular. Ocular hypertelorism, strabismus, nystagmus, astigmatism, myopia and/or hyperopia. Optic nerve hypoplasia, cortical blindness, and cataracts have been described. Although most individuals with CFC syndrome have ocular manifestations, some have a normal ophthalmologic examination.
* Feeding/gastrointestinal. Severe feeding problems manifest as gastroesophageal reflux (GER), aspiration, vomiting, and oral aversion. Other GI problems include dysmotility, intestinal malrotation, hernia, and/or constipation. Some individuals have splenomegaly or hepatomegaly. Most children have failure to thrive. Fatty liver and anal stenosis have also been reported.
* Growth delays. Feeding issues contribute to growth delay. Growth may be normal with appropriate birth weight and length; however, weight and length may drop to below the fifth centile during early infancy while head circumference remains within the normal range (resulting in relative macrocephaly).
* Endocrine abnormalities. Growth hormone deficiency in some individuals. Some may have precocious puberty.
* Neurologic. Some aspect of neurologic or neurocognitive findings present in nearly all individuals. Cognitive delay typically ranges from mild to severe, although a few individuals with CFC syndrome have IQs in the normal range. The most common neurologic findings include hypotonia and developmental delay. Other abnormalities can include seizure disorders, abnormal EEG, corticospinal tract findings, hydrocephalus, cortical atrophy versus dilated perivascular spaces, ventriculomegaly, frontal lobe hypoplasia, agenesis of the corpus callosum, abnormal myelination, Chiari malformation, and pachygyria.
* Urogenital. Renal, uterine, and/or cervical anomalies in some individuals
Note: Individuals with CFC syndrome display phenotypic variability and therefore not all have every finding.
### Establishing the Diagnosis
The diagnosis of CFC syndrome is established in a proband by the identification of a heterozygous pathogenic variant in BRAF, MAP2K1, MAP2K2, or KRAS by molecular genetic testing (see Table 1).
Molecular testing approaches can include serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
Consensus guidelines have been developed for a genetic testing strategy for CFC syndrome [Pierpont et al 2014]
Based on current published information, sequencing can be approached stepwise:
1.
A multigene panel for RASopathies / Noonan spectrum disorders that includes BRAF, MAP2K1, MAP2K2, and KRAS and other genes of interest (see Differential Diagnosis) is usually the preferred initial test.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
2.
If multigene panel testing is not available, serial single-gene testing is recommended, beginning with BRAF, MAP2K1, and MAP2K2, and KRAS; if no pathogenic variants are found follow with sequencing of HRAS (all exons) even though the patient appears to have a clinical diagnosis of CFC syndrome. Individuals who have an HRAS pathogenic variant by definition have Costello syndrome.
3.
If no pathogenic variant is identified in these genes using sequencing analysis, gene-targeted deletion/duplicaton analysis or array CGH can be considered. Rare deletions in MEK genes (i.e., MAP2K1 and MAP2K2) may cause phenotypic features that are reminiscent of CFC syndrome [Nowaczyk et al 2014].
More comprehensive genomic testing (when available) including exome sequencing or genome sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that includes BRAF, MAP2K1, MAP2K2, and KRAS) fails to confirm a diagnosis in an individual with features of CFC syndrome. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Cardiofaciocutaneous Syndrome
View in own window
Gene 1Proportion of CFC Attributed to Pathogenic Variants in Gene 2Proportion of Pathogenic Variants 3 Detected by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
BRAF~75%~100%Unknown 6,but single case reported 7
MAP2K1~25%~100%Unknown 6
MAP2K2~99%Unknown 6 but several cases have been reported 8
KRAS<2%-3%~100%Unknown 6
Unknown 9NA
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
Rauen [2013]
3\.
See Molecular Genetics for information on allelic variants detected in this gene.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
7\.
A single report of a BRAF deletion associated with a CFC-like phenotype [Yu & Graf 2011] which was not supported by functional data
8\.
Nowaczyk et al [2014] reported several individuals with MAP2K2 deletion associated with a CFC-like phenotype. This was supported by functional data of MAPK pathway dysregulation.
9\.
It is unclear at this time whether pathogenic variants in additional, unidentified genes cause CFC syndrome.
## Clinical Characteristics
### Clinical Description
Cardiofaciocutaneous (CFC) syndrome affects males and females equally.
Prenatally, polyhydramnios is present in the vast majority of cases. Maternal hyperemesis gravidarum may occur and subjective decrease in fetal movement may be observed. Newborns may be premature and large for gestational age, although the majority are appropriate for gestational age.
In the neonate, distinctive craniofacial features are present. Chylothorax and lymphedema have been reported at birth. Cardiac abnormalities, when present, typically present at birth, although hypertrophic cardiomyopathy and rhythm disturbances may present later in life. Feeding difficulties may be present.
In infancy, severe feeding difficulties are common, resulting in failure to thrive. Many children require nasogastric or gastrostomy feeding, while some undergo a Nissen fundoplication procedure for severe gastroesophageal reflux. Constipation is typically reported and continues to be an issue throughout childhood and adolescence.
All children have some form of neurologic abnormalities, neurocognitive delay, or learning issues. Overall, developmental delay typically ranges from mild to profoundly severe. A few individuals have IQs in the normal range. Children have speech delays and the vast majority have hypotonia, causing motor delays.
Childhood and adolescence. At present, no longitudinal or natural history studies have been done for CFC syndrome. However, CFC syndrome does have an evolving phenotype.
* Feeding issues. Later in childhood, feeding difficulties and hypotonia improve. Oral feedings are achieved usually in early childhood.
* Growth failure affects most individuals with CFC syndrome. Although the vast majority of children may not be tested, some have growth hormone deficiency.
* Neurodevelopmental delay may be less obvious in mildly or moderately affected children, but speech delays and difficulty walking become apparent in those who are more severely affected. Some young adults participate in assisted living programs.
* Seizures. Nearly 50% of individuals with CFC and a pathogenic variant in one of its associated genes have a seizure disorder. Most seizures begin in infancy or early childhood [Yoon et al 2007]; however, a seizure disorder may develop later in childhood as well.
* Otolaryngologic problems. Many children have recurrent otitis media and are found to have narrow external auditory canals.
* Ocular abnormalities including strabismus, nystagmus, optic nerve hypoplasia, astigmatism, myopia, and/or hyperopia are present in most individuals and may result in decreased vision and acuity.
* Cardiac issues abnormalities occur in approximately 75%-80% of indiividuals and include hypertrophic cardiomyopathy, structural anomalies, and (more rarely) rhythm disturbances.
* Renal/ urogenital anomalies. Anomalies can occur in up to 33% of individuals, with cryptorchidism in males being the most common. Renal cysts and stones as well as hydronephrosis and hydroureter can also occur.
* Bleeding diathesis. von Willebrand disorder has been reported.
* Dermatologic. With age, the dryness of the skin and the follicular hyperkeratosis tend to improve, allowing the hair to grow on the face and scalp [Roberts et al 2006]; however, palmoplantar hyperkeratosis and lymphedema may become more severe. Nevi, when present, increase in number over time [Siegel et al 2011]. Individuals with CFC syndrome have been known to develop severe skin infections.
* Musculoskeletal. The vast majority of individuals have musculoskeletal findings including hypotonia with a paucity of muscle mass and lax joints. Orthopedic issues include pectus deformity, scoliosis, kyphosis, and/or gait disturbances.
* Appearance. By late adolescence to early adulthood, the craniofacial appearance becomes less like that seen in Noonan syndrome.
* Neoplasias (e.g., benign papillomas or malignancies observed in the other RASopathies including Costello syndrome, Noonan syndrome, or neurofibromatosis type 1) have not been reported in CFC syndrome. However, acute lymphoblastic leukemia (ALL) has now been reported in a few individuals [Niihori et al 2006, Makita et al 2007, Rauen et al 2010], hepatoblastoma in an immunocompromised individual [Al-Rahawan et al 2007], non-Hodgkin lymphoma [Ohtake et al 2011], and large B-cell lymphoma [Rauen et al 2010].
### Genotype-Phenotype Correlations
Further evaluation of more individuals with CFC syndrome is necessary to clarify genotype-phenotype correlations, thereby permitting more accurate prognoses.
Ongoing correlations include the following:
* Pulmonic stenosis is present in 50% of CFC individuals with a BRAF pathogenic variant as opposed to 37% with a MEK pathogenic variant [Allanson et al 2011].
* Individuals with the BRAF p.Gln257Arg pathogenic variant, the most common CFC pathogenic variant, have many phenotypic features in common, including characteristic facies, cardiac defects, short stature, failure to thrive, abnormal brain imaging, musculoskeletal and ocular abnormalities, and relatively mild developmental delay [Niihori et al 2006, Rodriguez-Viciana et al 2006].
* Individuals with a MAP2K1 or MAP2K2 pathogenic variant are more likely to have keratosis pilaris and progressive nevi formation than those with a BRAF pathogenic variant [Siegel et al 2011].
### Penetrance
Penetrance is complete in CFC syndrome.
### Nomenclature
Blumberg et al [1979] at the March of Dimes Birth Defects Conference reported three individuals with intellectual disability who also had characteristic craniofacial dysmorphology, ectodermal anomalies, and cardiac defects. These three persons, along with five others, were subsequently reported by Reynolds et al [1986], who designated this new disorder cardiofaciocutaneous syndrome. Also Baraitser & Patton [1986] reported on a Noonan syndrome-like short stature syndrome with ectodermal anomalies that was presumed to be the same entity.
### Prevalence
More than 100 individuals with CFC syndrome have been reported in the literature. The total number of individuals worldwide with CFC syndrome is estimated to be several hundred, yet this may be an underestimation because of underdiagnosis of mildly affected individuals. Overall prevalence is not known; prevalence in Japan is estimated at one in 810,000 [Abe et al 2012].
## Differential Diagnosis
Multigene panels may include testing for a number of the genes associated with disorders discussed in this section.
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome are at an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Germline pathogenic variants in HRAS are causative [Aoki et al 2005]. Inheritance is autosomal dominant as demonstrated by germline mosaicism [Sol-Church et al 2009].
Individuals identified with HRAS pathogenic variants by definition have the diagnosis of Costello syndrome. BRAF pathogenic variants have been identified in individuals with a Costello syndrome-like phenotype who did not have an HRAS pathogenic variant [Rauen 2006]. However, with closer clinical examination, the clinical diagnosis was consistent with CFC syndrome. Costello syndrome and cardiofaciocutaneous (CFC) syndrome have many overlapping phenotypic features, underscoring the difficulty in making a clinical diagnosis based on phenotypic features alone. Individuals with BRAF pathogenic variants have the diagnosis of CFC syndrome, even if they have features that may be present in Costello syndrome or have phenotypic overlap with Noonan syndrome (see following).
Noonan syndrome is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one third of affected individuals have mild intellectual disability.
Pathogenic variants in PTPN11 have been identified in approximately 50% of individuals with clinically diagnosed Noonan syndrome [Tartaglia et al 2001]. SOS1 pathogenic variants have been identified in approximately 13% of individuals with Noonan syndrome [Roberts et al 2006, Tartaglia et al 2007]. KRAS pathogenic variants have been reported in fewer than 5% [Schubbert et al 2006]. RAF1 pathogenic variants have been reported in 3% to 17%. Other genes in which pathogenic variants have been reported to cause Noonan syndrome in fewer than 1% of cases include NRAS [Cirstea et al 2010], BRAF, and MAP2K1.
Craniofacial findings in CFC syndrome are reminiscent of those described in Noonan syndrome (macrocephaly, broad forehead, bitemporal narrowing, hypoplasia of the supraorbital ridges, downslanting palpebral fissures with ptosis, short nose with depressed nasal bridge and anteverted nares, low-set ears with prominent helices which may be posteriorly rotated, and high-arched palate), underscoring the importance of molecular testing to establish the correct diagnosis.
Inheritance is autosomal dominant; however, many affected individuals most likely have de novo pathogenic variants.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with or suspected to have cardiofaciocutaneous (CFC) syndrome, the following evaluations are recommended. Evaluations are based on published consensus guidelines for workup at initial diagnosis or as ongoing medical management throughout an individual's life span [Pierpont et al 2014]
* Consultation with a clinical geneticist and/or genetic counselor
* Complete physical examination including measurement of growth parameters
* Nutrition and feeding evaluation; consideration of swallow study
* Endocrine evaluation
* Psychomotor developmental evaluation
* Neurologic evaluation
* MRI of the brain to detect any structural changes
* Electroencephalogram if seizures are suspected
* Audiologic examination
* Ophthalmologic examination
* Cardiac evaluation including echocardiogram and electrocardiogram
* Full abdominal ultrasound examination to evaluate for renal and urogenital anomalies
* Obtain history for possible bleeding diathesis
* Dermatologic evaluation
### Treatment of Manifestations
Consensus guidelines for workup at initial diagnosis or as ongoing medical management throughout an individual's life span have been published [Pierpont et al 2014].
CFC syndrome affects many organ systems and, therefore, the vast majority of individuals require ongoing care by a multidisciplinary team of healthcare providers. At present, phenotypic features caused by germline pathogenic variants in BRAF, MAP2K1, MAP2K2, or KRAS are treated as in the general population.
* Severe feeding issues during the first years of life require management by a pediatric gastroenterologist. Many children with CFC syndrome require nasogastric or gastrostomy tube feeding because of failure to thrive. Increasing caloric intake may be of benefit. Children with severe gastroesophageal reflux may require a Nissen fundoplication. Constipation affects the majority of individuals; increased fiber in the diet, under the direction of a pediatrician, may be beneficial.
* Some individuals are growth hormone- and or thyroid hormone-deficient and may benefit from management by an endocrinologist. Individuals with a diagnosis of hypertrophic cardiomyopathy must be monitored closely while on growth hormone therapy.
* Enrollment in early-intervention therapies to promote motor and intellectual development (e.g., occupational therapy, physical therapy, or speech therapy) is highly recommended.
* Seizures are treated as in the general population. However, seizures may be refractory to single-agent therapy and may require polytherapy.
* Recurrent otitis media may require placement of PE tubes.
* Ocular abnormalities such as myopia or hyperopia are corrected with lenses as in the general population.
* Cardiovascular management is dictated by the abnormality, with treatment similar to that in the general population: structural defects are managed surgically as needed; hypertrophic cardiomyopathy is followed by serial echocardiograms, and cardiac arrhythmias are medically managed in an aggressive manner.
* Xerosis and pruritus may be relieved by increasing the ambient humidity or using hydrating lotions. Hyperkeratoses are treated as in the general population.
* Signs and symptoms of skin infection, especially in the presence of lymphedema, warrant thorough and immediate evaluation by a physician for the consideration of antibiotic treatment.
* Musculoskeletal abnormalities, such as scoliosis or pectus deformity, are managed as in the general population.
Note: Specialized NF/Ras pathway genetics clinics are available in the US and United Kingdom.
### Prevention of Secondary Complications
Cardiac. Certain congenital heart defects (notably valve dysplasias) require antibiotic prophylaxis for subacute bacterial endocarditis (SBE).
Anesthesia. Individuals with CFC syndrome may have an unrecognized hypertrophic cardiomyopathy, tracheomalacia, or a predisposition to cardiac rhythm disturbances and should be evaluated for these issues prior to anesthetic administration.
### Surveillance
If anomalies are identified in any organ system, lifelong periodic follow up is warranted. Consensus guidelines for surveillance in CFC syndrome have been established [Pierpont et al 2014].
* Gastrointestinal. Monitor for signs and symptoms of gastrointestinal reflux, constipation, and generalized dysmotility.
* Endocrine. Monitor growth parameters to identify evidence of growth failure that may be associated with growth hormone deficiency. Monitor for signs of precocious puberty.
* Cognitive development. Assess periodically to be certain that school programs or other supports are addressing learning needs.
* Neurologic. Monitor neurologic signs and symptoms with period neurologic evaluations and MRI if indicated. Chiari malformation and later onset of seizures have been observed.
* Audiologic. Annual evaluation of hearing is recommended.
* Ophthalmologic. Periodic evaluation by an ophthalmologist to monitor for ocular issues (such as myopia, hyperopia, cataracts) is recommended.
* Cardiac. If the initial cardiac evaluation is normal, periodic follow-up evaluations including an echocardiogram and an electrocardiogram are necessary as hypertrophic cardiomyopathy and rhythm disturbances may develop later in life.
* Dermatologic. As affected individuals age, formation of nevi may be progressive. At present, the natural history of the nevi is unknown. Periodic and routine dermatologic evaluation of nevi may be warranted to monitor for malignant change, although no individuals with CFC syndrome have been reported to have a malignant change.
* Musculoskeletal. Periodic evaluation for scoliosis during young childhood is recommended.
* Malignancy. No screening protocol exists at present, as it is unclear if individuals with CFC syndrome are at an increased risk for malignancies.
### Agents/Circumstances to Avoid
Over-exposure to heat. Individuals with CFC syndrome report heat intolerance.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
A pregnant female suspected of having CFC syndrome warrants obstetric care from a trained maternal-fetal-medicine physician due to possible polyhydramnios, cardiac issues, and/or hypertension.
### Therapies Under Investigation
Because the Ras/MAPK pathway has been studied intensively in the context of cancer, numerous therapeutics that specifically target this pathway are in development.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
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*[FRA]: France
*[ITA]: Italy
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*[SUI]: Switzerland
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*[POR]: Portugal
*[AUT]: Austria
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*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
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*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cardiofaciocutaneous Syndrome
|
c1275081
| 7,100 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1186/
| 2021-01-18T21:36:27 |
{"mesh": ["C535579"], "synonyms": ["CFC Syndrome"]}
|
Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or 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
|
Lichen sclerosus
|
c0023652
| 7,101 |
gard
|
https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus
| 2021-01-18T17:59:25 |
{"mesh": ["D018459"], "omim": ["151590"], "umls": ["C0023652"], "orphanet": ["33409"], "synonyms": ["Lichen sclerosis", "Lichen sclerosis et atrophicus", "Lichen sclerosus et atrophicus"]}
|
Wilson and Deitrick (1986) found no gallbladder in a 45-year-old mother and 23-year-old daughter. Kobacker (1950) proved agenesis of the gallbladder in 2 members of a family and suspected it from failure of visualization on oral cholecystography in 5 others. Nadeau et al. (1972) reported a family with 2 proved cases and 10 cases of nonvisualization. Sterchi et al. (1977) reported a family.
GI \- Gallbladder agenesis Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
GALLBLADDER, AGENESIS OF
|
c0266251
| 7,102 |
omim
|
https://www.omim.org/entry/137040
| 2019-09-22T16:40:56 |
{"mesh": ["C562564"], "omim": ["137040"], "icd-10": ["Q44.0"]}
|
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin. Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as panniculitis. The cause of this type of cancer is unknown, but genetic factors may be involved. It can be diagnosed by a skin biopsy of the affected area. Treatment for SPTCL depends on the symptoms but often involves taking a steroid medication or a medication that lessens the immune response. Some people with more aggressive SPTCL may need chemotherapy. SPTCL can occur in children or adults, but is typically diagnosed in the 30s. For unknown reasons, it occurs more often in women than men.
SPTCL is a very slow-growing cancer and does not usually spread beyond the subcutaneous fat layer. About 20% of people with SPTCL will also develop another condition called hemophagocytic lymphohistiocytosis (HLH) in which the body makes too many immune cells. These immune cells attack other cells in the body and cause an enlarged spleen and a decreased level of blood cells in the body.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Subcutaneous panniculitis-like T-cell lymphoma
|
c0522624
| 7,103 |
gard
|
https://rarediseases.info.nih.gov/diseases/10193/subcutaneous-panniculitis-like-t-cell-lymphoma
| 2021-01-18T17:57:29 |
{"mesh": ["C537503"], "synonyms": ["SPTCL"]}
|
## Summary
### Clinical characteristics.
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported.
### Diagnosis/testing.
The diagnosis of Myhre syndrome is established by detecting a de novo SMAD4 heterozygous pathogenic variant in a proband with characteristic clinical findings.
### Management.
Treatment of manifestations: Symptomatic treatment (with attention to limiting tissue trauma by minimizing instrumentation during diagnosis and management) by specialty experts of the following involvement: cardiovascular, respiratory (including tracheostomy when tracheal stenosis is recurrent or complete), and GI; routine management of speech and language delay, intellectual disability, behavioral problems.
Prevention of secondary complications: Limiting of tissue trauma given the apparent increased risk for proliferative fibrosis following otherwise uncomplicated endotracheal intubation and surgical procedures. When possible, alternative noninvasive approaches should be pursued during diagnosis and management
Surveillance: Cardiovascular: echocardiogram every one to three years in asymptomatic individuals with a normal echocardiogram at the time of initial diagnosis; in individuals with abnormal cardiac findings at the time of diagnosis, more extensive imaging (including possible cardiac MRI) may be considered. Respiratory: oxygen saturation in children with monitoring as needed for symptoms suggestive of restrictive/obstructive pulmonary disease; annual pulmonary function studies in children oldert than age six years if able to cooperate; evaluation of laryngotracheal stenosis based on symptoms. Annual ophthalmology and audiology evaluations.
Agents/circumstances to avoid: Smoking; tissue trauma.
### Genetic counseling.
Myhre syndrome is inherited in an autosomal dominant manner. All probands with Myhre syndrome reported to date have the disorder as a result of a de novo SMAD4 pathogenic variant. If the SMAD4 pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the risk to sibs is presumed to be slightly greater than that of the general population (though still <1%) because of the theoretic possibility of parental germline mosaicism. To date, individuals with Myhre syndrome are not known to reproduce and fertility has not been assessed. Once the SMAD4 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at theoretic increased risk for Myhre syndrome and preimplantation genetic diagnosis are possible.
## Diagnosis
Formal diagnostic criteria have not been published for Myhre syndrome.
### Suggestive Findings
Myhre syndrome should be suspected in individuals with the following clinical and radiographic findings.
#### Clinical
Cardiovascular
* Arterial obstruction: juxtaductal coarctation of the aorta, long- and short-segment descending thoracic and abdominal aortic obstruction, and peripheral arteries in various locations; infrequently, branch pulmonary artery stenosis
* Congenital heart defects:
* Atrial and ventricular septal defects, patent ductus arteriosus
* Valvular stenosis: aortic and mitral valves; infrequently, tricuspid and pulmonic valves
* Pericardial involvement: ranges from effusion to constrictive pericarditis; often chronic and severe
* Restrictive cardiomyopathy (can be rapidly progressive)
* Hypertension: systemic and pulmonary
Respiratory (congenital or acquired)
* Laryngotracheal narrowing (including subglottic stenosis)
* Choanal stenosis
* Obstructive airway disease
* Restrictive pulmonary disease (which appears to increase with age)
Gastrointestinal
* Congenital or acquired pyloric stenosis
* Later onset:
* Duodenal strictures
* Severe constipation
Skin
* Stiff and thickened overall, but particularly on the hands and extensor surfaces
* Facial creases fewer than expected for age
Proliferative fibrosis/scarring
* May occur spontaneously or following trauma or surgery
* May involve the serosal surfaces of the heart, airway and lungs, and gastrointestinal tract as well as the skin
Neuropsychiatric
* Mild-to-moderate intellectual disability
* Autistic-like behaviors in some
Craniofacial
* Characteristic facial features including short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, narrow mouth, thin vermilion of the upper lip, and prognathism (Figure 1, Figure 2, Figure 3, Figure 4, Figure 5). Facial characteristics can progress over time; although classic coarsening of features is not present, mandibular elongation is notable. Note: Craniofacial features can vary considerably.
* Cleft lip and/or palate and velopharyngeal insufficiency reported in 13% [Lin et al 2016]
#### Figure 1.
Female with Myhre syndrome at ages seven months, four years, and 16 years. Note the short palpebral fissures, thin upper vermilion border and maxillary underdevelopment. She required tracheostomy subsequent to traumatic intubations that resulted in complete (more...)
#### Figure 2.
Female with Myhre syndrome at ages newborn, 12 months, 3.5 years, and seven years. Note the short palpebral fissures, thin upper vermilion border, and progression of mild prognathism.
#### Figure 3.
Female with Myhre syndrome at ages three years, ten years (standing), and 21 years (face, posterior hairline, and hands). Note the short palpebral fissures, broad mid-upper nasal bridge, downward pointing nasal tip, thin upper vermilion border, broad (more...)
#### Figure 4.
Male with Myhre syndrome at age 12 years. Note the mild facial features (mild maxillary underdevelopment and thin upper vermilion border) and finger contractures (hands are on a flat surface).
#### Figure 5.
Female with Myhre syndrome at age five years. Note the short palpebral fissures, thin upper and lower vermilion borders, left-sided facial palsy, and brachydactyly with otherwise mild features. Facial palsy is observed in 4% of individuals with Myhre (more...)
Skeletal
* Infants typically have intrauterine growth restriction (IUGR)
* Short stature (height is significantly less than that predicted by parental heights) with compact body habitus
* Range of motion of the joints can be limited
#### Radiographic
Findings include the following:
* Thickened calvarium
* Shortened long bones
* Brachydactyly
* Broad ribs
* Enlarged vertebrae with shortened pedicles; vertebral fusion
* Hypoplastic iliac wings
See Figure 6.
#### Figure 6.
Radiographs of a female age 14 years A. Thickened calvaria and anterior cervical vertebral fusion (arrow) of C2 and C3.
### Establishing the Diagnosis
The diagnosis of Myhre syndrome is established in a proband with characteristic clinical findings and a de novo heterozygous pathogenic variant in SMAD4 detected by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel or single-gene testing) and genomic testing (comprehensive genome sequencing).
Gene-targeted testing requires the clinician to determine which gene(s) are likely involved, whereas genomic testing may not. Persons with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom a specific diagnosis has been elusive are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and radiographic findings suggest the diagnosis of Myhre syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of SMAD4 is performed first. If no pathogenic variant is found, gene-targeted deletion/duplication analysis may be considered; to date, however, no exon or whole-gene deletions have been reported.
* A multigene panel that includes SMAD4 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of Myhre syndrome has not been considered, genomic testing (comprehensive genome sequencing), when available, is likely to be the diagnostic modality selected. Comprehensive genome sequencing includes exome sequencing and genome sequencing.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Myhre Syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SMAD4Sequence analysis 355/55 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
54 patients summarized by Lin et al [2016] and one patient reported by Bassett et al [2016]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
Myhre syndrome is a multisystem connective tissue disorder involving: the cardiovascular system, respiratory system, gastrointestinal tract, and skin; progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, often resulting in significant complications; mild-to-moderate intellectual disability; and behavioral issues in some. Additional findings include distinctive craniofacial features and skeletal involvement.
Myhre syndrome was first described by Myhre et al [1981] in two unrelated males. Since 2011, when heterozygosity for a SMAD4 pathogenic variant was found to be causative, 55 affected individuals with a molecularly confirmed diagnosis of Myhre syndrome have been reported. Lin et al [2016] reported four affected individuals and summarized findings in 50 previously reported individuals [Le Goff et al 2011, Al Ageeli et al 2012, Asakura et al 2012, Caputo et al 2012, Lindor et al 2012, Picco et al 2013, Ishibashi et al 2014, Kenis et al 2014, Michot et al 2014, Hawkes & Kini 2015, Oldenburg et al 2015, Starr et al 2015]. Subsequently Bassett et al [2016] reported one additional affected individual.
Note: Unless otherwise noted, the following findings are reported in Lin et al [2016].
Infancy and progression of findings. In infancy, characteristic facial features are usually present, but more difficult to recognize than in an older child (see Suggestive Findings and Figure 1, Figure 2, Figure 3, Figure 4, Figure 5). Short stature and hearing loss develop over time as well as the highly distinctive (and often severe) findings of Myhre syndrome: joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin.
Cardiovascular. Of 54 individuals with a confirmed molecular diagnosis of Myhre syndrome, 70% had a cardiovascular abnormality including structural heart defects (63%); pericardial disease (17%), restrictive cardiomyopathy (9%), and systemic hypertension (15%).
Cardiovascular abnormalities include the following:
* Atrial septal defect (4%) and ventricular septal defect (6%)
* Patent ductus arteriosus (which can be large) (20%)
* Obstructive defects of the left heart, such as juxtaductal aortic coarctation (15%), long-segment aorta narrowing (6%), aortic valve stenosis (15%), and mitral valve stenosis (2%). These are more common than obstructive defects of the right-side, such as valvar and branch pulmonary artery stenosis [Michot et al 2014, Hawkes & Kini 2015, Starr et al 2015].
* Peripheral vascular stenoses (in celiac and/or renal arteries) (7%)
Of note, complex congenital heart defects are not observed.
Pericardial disease (reported in 17%) can present as a short-term or recurrent effusion or as chronic or progressive constrictive pericarditis that may require surgical intervention (see Management).
Restrictive cardiomyopathy, a lethal condition, is the least common form of cardiomyopathy in the general population and can be overlooked unless cardiac catheterization documents the characteristic hemodynamics.
While constrictive pericarditis and restrictive cardiomyopathy can present with similar hemodynamics, they differ in pathogenesis and treatment (see Management).
Pulmonary hypertension has been infrequently reported; however, this may reflect limited evaluation and/or bias toward ascertainment and/or reporting of younger patients (as underlying causes of pulmonary hypertension resulting from involvement of the lungs and cardiovascular circulation may evolve with age).
Progressive cardiovascular issues can appear at any age; those with onset in childhood may worsen following instrumentation: two patients with restrictive cardiomyopathy who were treated with heart and heart/lung transplantation did not survive postoperative complications [Starr et al 2015].
Respiratory. Respiratory issues can be multifactorial. Airway stenosis, typically involving the larynx and trachea, has included subglottic stenosis (17%) that can be recurrent and severe. Less common is upper airway obstruction due to choanal stenosis (11%).
Restrictive and obstructive pulmonary disease are major causes of morbidity at all ages. Interstitial lung disease has been described. Severe pulmonary fibrosis has been noted on autopsy [Starr et al 2015].
Gastrointestinal involvement
* Duodenal atresia 3/54 (6%)
* Late-onset pyloric stenosis [L Starr, personal observation]
* Protein-losing enteropathy (Patient 1 [Lin et al 2016])
* Severe constipation [Michot et al 2014, Starr et al 2015]
Cutaneous. Generalized thickening/stiffness of the skin is seen in nearly all individuals with Myhre syndrome. Various terms used to describe the skin include thick, stiff, firm, rough, keratotic, and inelastic. Additional findings are minimal creasing of the facial skin and fibrous and keloid-like scar formation.
Skin changes may not be apparent in infancy; they are often first noted on extensor surfaces, palms, and soles. The changes progress with age.
Neuropsychiatric. Data are limited. Mild-to-moderate intellectual disability and developmental delay are common; however, cognition can be within the normal range. Of note, acquired and unrecognized hearing loss may also contribute to speech delay and academic and social challenges.
Findings of autism spectrum disorder have been noted in a minority of affected individuals [Michot et al 2014].
Skeletal. The majority of affected infants have intrauterine growth restriction (41/49; 84%). Short stature with compact body habitus (with normal head circumference) becomes more apparent over time. Adult height is expected to be more than two standard deviations below what is predicted by parental heights.
Small hands and feet with brachydactyly is usually notable (see Figure 3, Figure 4, Figure 5).
Posture may be distinct with flexed elbows and bending forward at the hips (see Figure 3 and Ishibashi et al [2014], Figure 1).
Reduced range of motion of large and small joints is characteristic and is exacerbated with age. Walking on tiptoes is common.
Immune system. Recurrent infections (especially otitis media and pneumonia) have been reported in 19 of 34 individuals. Increased susceptibility to infection has been associated with immunoglobulin deficiency in three affected individuals; IVIG was utilized with reported benefit in one affected individual [Starr et al 2015]. At this point, it is unknown if immune deficiency is associated with Myhre syndrome or if it is an incidental finding [Michot et al 2014, Starr et al 2015].
Ophthalmologic. At least one abnormal eye finding was reported in 53% (26/49) of affected individuals:
* Strabismus 13/53 (24%)
* Refractive errors in 17/53 (31%)
* Other. Cataracts, astigmatism, and optic nerve sheath meningioma
Hearing loss is observed in most (83%) individuals with Myhre syndrome.
Hearing loss is predominantly conductive, but can be sensorineural and mixed. The underlying etiology of the hearing loss is often unclear or unknown; most often patients have a history of bilateral myringotomy tube placement.
Of note, most infants pass their newborn hearing screen. In the authors' experience hearing loss usually becomes evident in early childhood and is typically present in adults.
Endocrine. Puberty has been reported to be normal, premature, or delayed. Secondary amenorrhea has been reported.
Neoplasia
* Endometrial carcinoma [Lindor et al 2012], optic nerve sheath meningioma [Starr et al 2015], and mesencephalic glioma [Lin et al 2016] have each been reported once.
* Telangiectasias and juvenile polyps, reported in heterozygotes for a SMAD4 loss-of-function pathogenic variant, have not been reported in Myhre syndrome; however, information to date is limited.
### Genotype-Phenotype Correlations
The gain-of-function SMAD4 pathogenic variants that cause Myhre syndrome involve only two protein residues (codons 496 and 500). To date, no clear genotype-phenotype correlations are evident in affected individuals with either codon abnormality.
Of note, although the three individuals reported with the p.Arg496C variant do not have cardiovascular involvement and are taller in stature – two on the growth curve (2nd-25th centile) and one <1st centile [Michot et al 2014, Caputo et al 2014] – the data are too limited to draw any conclusions about genotype-phenotype correlations.
### Penetrance
Penetrance appears to be complete; however, no familial cases of Myhre syndrome have been reported.
### Nomenclature
LAPS (laryngotracheal stenosis, arthropathy, prognathism, and short stature) syndrome was determined to be a phenotypic variant of Myhre syndrome with pathogenic variants in the same codons [Lindor et al 2012, Picco et al 2013, Michot et al 2014]; the term is no longer in use.
### Prevalence
The prevalence is unknown.
Since 2011 when a heterozygous pathogenic variant in SMAD4 was discovered to be the cause of Myhre syndrome, 55 affected individuals with a molecularly confirmed diagnosis have been reported worldwide with no apparent ethnic or sex predilection (54 summarized in Lin et al [2016] and one reported by Bassett et al [2016]).
## Differential Diagnosis
The disorders that most closely resemble Myhre syndrome are the other acromelic dysplasias: geleophysic dysplasia, acromicric dysplasia, and Weill-Marchesani syndrome, which share the findings of thickened skin, short stature, short hands, and stiff joints. MULIBREY nanism should also be considered.
### Table 2.
Disorders to Consider in the Differential Diagnosis of Myhre Syndrome
View in own window
Differential
Diagnosis
DisorderGene(s)MOIClinical Features of the Differential Diagnosis Disorder
Overlapping w/Myhre syndromeDistinguishing from Myhre syndrome
Acromicric dysplasia
(OMIM 102370)FBN1AD
* IUGR
* Short stature
* Brachydactyly
* Joint stiffness
* Thickened skin
* Characteristic external notch of 5th metacarpal & internal notch of femoral head
* Absence of hearing loss
* Less frequent cardiac anomalies
* Absence of calvarial thickening
Geleophysic dysplasia 1ADAMTSL2AR
* IUGR
* Short stature
* Short hands & feet
* Progressive joint limitation & contractures
* Progressive cardiac valvar thickening
* Thickened skin
* Hepatomegaly
* Characteristic facies
FBN1AD
Weill-Marchesani syndrome 2ADAMTS10
LTPBP2AR
* IUGR
* Short stature
* Brachydactyly
* Joint stiffness
* Distinctive lens abnormalities 2
* Lack of hearing loss
FBN1AD
MULIBREY nanism
(OMIM 253250)TRIM37AR
* IUGR
* Short stature
* Relatively large head
* Constrictive pericarditis
* Restrictive cardiomyopathy
* Shorter stature
* Small tongue
AD = autosomal dominant; AR = autosomal recessive; IUGR = intrauterine growth restriction; MOI = mode of inheritance; XL = X-linked
1\.
Geleophysic dysplasia. Major findings are likely to be present in the first year of life. Cardiac and respiratory involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.
2\.
Weill-Marchesani syndrome. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Myhre syndrome, the following are recommended (if not completed previously as part of the diagnostic evaluation).
Cardiovascular
* Upper- and lower-extremity blood pressure measurements
* Two-dimensional echocardiography with Doppler
* For those with abnormal findings, more extensive imaging if indicated including cardiac catheterization to document the characteristic hemodynamics of restrictive cardiomyopathy
Respiratory
* Assessment for airway stenosis by the least invasive means possible with assessment for signs of upper-airway obstruction including noisy breathing, work of breathing, and oxygen saturation
* Assessment of pulmonary function and oxygen saturation for evidence of obstructive or restrictive lung disease
Gastrointestinal. Based on clinical indication (by least invasive means possible), evaluate for evidence of stenosis.
Neuropsychiatric. Neuropsychometric evaluation may be indicated for individuals with autistic behaviors and/or cognitive involvement.
Other
* Ophthalmology evaluation
* Speech evaluation
* Audiology evaluation
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Treatment is largely symptomatic and may include the following.
Cardiovascular
* Management by a cardiologist trained in congenital heart disease, including pericardial disease and restrictive cardiomyopathy. At present, no evidence suggests that in Myhre syndrome management of specific lesions would differ from standard care in current clinical practice, except that any unnecessary instrumentation should be avoided as associated tissue trauma may induce stenosis and the scarring-type tissue response unique to Myhre syndrome.
* Affected individuals who are in heart failure should be under the care of a cardiovascular specialist with access to a transplant center.
* Maximize all medical treatment and minimize instrumentation for all cardiac studies and therapies.
* Medical treatment of systemic hypertension and pulmonary hypertension (based on underlying cause).
Respiratory
* Affected individuals have required long-term tracheostomy due to complete and recurrent tracheal stenosis following multiple and/or traumatic intubations [McGowan et al 2011, Oldenburg et al 2015, Starr et al 2015]. To avoid traumatic intubation, consider using a size-smaller uncuffed endotracheal tube. Elective tracheal surgery/intubation should be avoided; tracheal resection is contraindicated [Oldenburg et al 2015].
* Symptomatic treatment of restrictive lung disease
* Oxygen supplementation as necessary
Gastrointestinal
* Minimal instrumentation of the gastrointestinal tract is advised because post-operative adhesions can be fatal [Lindor et al 2012].
* Endoscopy should be approached with caution to avoid airway manipulation which increases the risk for tracheal/laryngeal scarring/stenosis [Oldenburg et al 2015]. Noninvasive 3D imaging may be preferred.
* Aggressive management of constipation (through dietary means or medication if necessary) is indicated.
#### Developmental Delay / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed.
Ages 5-21 years. In the US, an IEP based on the individual's level of function should be developed by the local public school district. Affected children are permitted to remain in the public school district until age 21.
Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
In the US:
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Social/Behavioral Concerns
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications when necessary.
Individualized behavioral therapy or pharmacologic treatment for anxiety, depression, or other psychological manifestations as per current clinical practice is appropriate.
#### Other Issues
Hearing
* Hearing loss. Appropriate hearing augmentation (see Deafness and Hereditary Hearing Loss Overview)
* Persistent middle ear effusions. Myringotomy tubes as needed
Craniofacial
* Individuals with orofacial clefting or velopharyngeal insufficiency should be referred to a craniofacial clinic with pediatric experience. These individuals benefit most from a multidisciplinary approach to care.
* A craniofacial clinic associated with a major pediatric medical center usually includes a surgical team (craniofacial surgeon and neurosurgeon), clinical geneticist, ophthalmologist, otolaryngologist, pediatrician, radiologist, psychologist, multiple dental specialists, audiologist, speech therapist, and social worker.
Skeletal
* Consider physical therapy to keep joints mobile (no study has been done on efficacy). Note: It is not known if passive range of motion exercises help maintain flexibility.
* A systematic study of growth hormone treatment for short stature has not been done. One affected individual has been noted to have anecdotal improvement in growth velocity; however, it is unknown if adult height would be affected [Starr et al 2015].
Ophthalmology. Routine treatment of strabismus and refractive errors. Note: Complications from surgical repair have not been reported.
### Prevention of Secondary Complications
Limiting tissue trauma appears to be the single most important preventive measure: The literature suggests increased risk of proliferative fibrosis following otherwise uncomplicated endotracheal intubation and surgical procedures. When possible, alternative noninvasive approaches should be pursued during diagnosis and management [Oldenburg et al 2015, Starr et al 2015].
* Extreme care with intubation and use of an endotracheal tube without a cuff (or careful monitoring of pressures with a cuff) may help prevent airway stenosis [Oldenburg et al 2015].
* Minimize abdominal and pelvic procedures as extensive adhesions may develop postoperatively [Lindor et al 2012].
* Hysterectomy should be an option of last resort for treatment of menorrhagia as post-surgical fibrosis is highly likely.
### Surveillance
Cardiovascular
* After normal baseline evaluations of upper- and lower-extremity blood pressure measurements, two-dimensional echocardiography with Doppler, and cardiology evaluation
* In asymptomatic individuals with a normal echocardiogram at the time of initial diagnosis, repeat echocardiogram every 1-3 years. Note that pericardial effusion and restrictive cardiomyopathy may occur at any age and may be clinically asymptomatic [Starr et al 2015, Garavelli et al 2016, Lin et al 2016].
* In individuals with abnormal findings at the time of initial diagnosis, more extensive imaging may be indicated given the progressive nature of the disorder (e.g., MRI to evaluate for pericardial thickening or effusion).
Respiratory
* Consider oxygen saturation in children, with monitoring as needed for symptoms suggestive of restrictive/obstructive pulmonary disease and annual pulmonary function studies in children older than age six years if able to cooperate with test maneuvers.
* Evaluation for upper airway stenosis (e.g., laryngotracheal stenosis) should be considered based on symptoms.
Other
* Annual ophthalmologic and audiology evaluations
* Monitoring of physical skill development and joint mobility
### Agents/Circumstances to Avoid
Patients should be aggressively counseled not to smoke.
Limiting tissue trauma appears to be the single most important preventive concept in this disorder to communicate to all health care providers involved in their care (see Prevention of Secondary Findings).
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Myhre Syndrome
|
c0796081
| 7,104 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK425723/
| 2021-01-18T21:10:03 |
{"mesh": ["C537620"], "synonyms": ["Laryngotracheal Stenosis", "Arthropathy", "Prognathism", "and Short Stature (LAPS) Syndrome; Myhre-LAPS Syndrome"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-5 is associated with variation in the PON1 gene (168820) on chromosome 7q21.3.
For a discussion of genetic heterogeneity of susceptibility to microvascular complications of diabetes, see MVCD1 (603933).
Molecular Genetics
Kao et al. (1998) analyzed the L55M polymorphism in the PON1 gene (168820.0002), which they designated M54L, in 80 patients with diabetic retinopathy and 119 controls, and found a significantly higher allelic frequency of the leu55 polymorphism in the group with retinopathy than in the group without retinopathy (73% vs 57%, p less than 0.001).
Brophy et al. (2001) presented evidence that the L55M effect of lowered activity is not due primarily to the amino acid change itself but to linkage disequilibrium with the -108 regulatory region polymorphism (168820.0003). The -108C/T polymorphism accounted for 22.8% of the observed variability in PON1 expression levels, which was much greater than that attributable to other PON1 polymorphisms.
Kao et al. (2002) analyzed the L55M (M54L) PON1 polymorphism and the C311S PON2 polymorphism (602447.0001) in 372 adolescents with type 1 diabetes (222100) who were also assessed for diabetic retinopathy and albumin excretion rate. The authors confirmed the increased susceptibility to diabetic retinopathy with the PON1 leu/leu genotype (odds ratio, 3.4; p less than 0.0001) independent of age, duration of disease, and cholesterol, and found that the PON2 ser/ser genotype was significantly more common in patients with microalbuminuria (odds ratio, 4.72; p less than 0.0001). The authors also observed strong linkage disequilibrium between PON2 ser311 and PON1 leu55 that was greater in those without either complication, suggesting that retinopathy and nephropathy may have distinct genetic susceptibility.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5
|
c2674665
| 7,105 |
omim
|
https://www.omim.org/entry/612633
| 2019-09-22T16:00:57 |
{"omim": ["612633"], "synonyms": ["Alternative titles", "RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO"]}
|
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Iy (CDG1Y) is caused by hemizygous mutation in the SSR4 gene (300090) on chromosome Xq28.
For discussion of the classification of CDGs, see CDG1A (212065).
Clinical Features
Losfeld et al. (2014) reported a 16-year-old boy, born of unrelated parents, with a previously undescribed congenital disorder of glycosylation. He presented at birth with microcephaly and respiratory distress. Later in infancy, he showed delayed development and hypotonia, and developed a mild seizure disorder that did not require treatment. Dysmorphic features included micrognathia, excess skin around the neck, increased fat pads, mild hypospadias, and clinodactyly of the fourth and fifth toes. Biochemical studies showed a mildly abnormal carbohydrate-deficient transferrin profile suggestive of a type I CDG, but all known CDG defects were excluded. The patient also had von Willebrand disease (193400), which was thought to be unrelated to the CDG.
Ng et al. (2015) reported 8 males from 5 unrelated families with CDG1Y. The patients had global developmental delay, intellectual disability, hypotonia, and microcephaly. Dysmorphic facial features included deep-set eyes, large mouth with widely spaced teeth, large ears, and hypoplastic vermilion of the upper lip. Most patients had feeding difficulties with failure to thrive, gastrointestinal reflux, and strabismus. Five had seizures. Less common features included skeletal anomalies, such as scoliosis, and coagulation defects. Rare brain imaging anomalies included thin corpus callosum (1 patient), decreased periventricular white matter (1 patient), and absence of the septum pellucidum (1 patient). Serum transferrin analysis showed mildly abnormal glycosylation in a type 1 pattern; nonglycosylated transferrin was not detected in any of the patients. In 2 families, one of which carried a large deletion encompassing several genes, female carriers may have had mild intellectual disability.
Molecular Genetics
In a 16-year-old boy with congenital disorder of glycosylation type Iy, Losfeld et al. (2014) identified a de novo hemizygous truncating mutation in the SSR4 gene (300090.0001). The mutation was found by whole-exome sequencing. In vitro functional expression studies indicated that the mutation caused a loss of function and defective N-glycosylation of proteins. Losfeld et al. (2014) hypothesized that the SSR4 defect would induce ER stress, lead to the accumulation of misfolded proteins, and further the hypoglycosylation of proteins. The findings suggested that the TRAP complex directly functions in N-glycosylation.
In 7 males from 4 unrelated families with CDG1Y, Ng et al. (2015) identified hemizygous loss-of-function mutations in the SSR4 gene (300090.0002-300090.0005). The mutations were found by exome sequencing. Four of the mutations occurred de novo and 1 was inherited from the mother. An eighth male patient from a fifth family with a similar phenotype had a heterozygous deletion of several genes, including SSR4; both his mother and sister, who had mild intellectual disability, carried the deletion. Western blot analysis of 5 patients showed absence of the SSR4 protein.
INHERITANCE \- X-linked recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly Face \- Micrognathia Ears \- Large ears Eyes \- Deep-set eyes \- Strabismus Mouth \- Large mouth \- Thin vermilion of the upper lip Teeth \- Widely spaced teeth Neck \- Excess skin around the neck RESPIRATORY \- Respiratory distress in infancy ABDOMEN Gastrointestinal \- Poor feeding \- Gastric reflux GENITOURINARY External Genitalia (Male) \- Hypospadias, mild SKELETAL \- Joint dislocations Spine \- Scoliosis Feet \- Clinodactyly MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Seizures (in some patients) \- Thin corpus callosum (in some patients) HEMATOLOGY \- Coagulation abnormalities (in some patients) LABORATORY ABNORMALITIES \- Abnormal isoelectric focusing of serum transferrin (type 1 pattern) MISCELLANEOUS \- Onset at birth \- Most mutations occur de novo \- Female carriers may have mild intellectual disability \- Transferrin glycosylation may be very mildly or borderline affected MOLECULAR BASIS \- Caused by mutation in the signal sequence receptor, delta gene (SSR4, 300090.0001 ) ▲ 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
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
|
c4012395
| 7,106 |
omim
|
https://www.omim.org/entry/300934
| 2019-09-22T16:19:16 |
{"doid": ["0080574"], "omim": ["300934"], "orphanet": ["370927"], "synonyms": ["CDG syndrome type Iy", "Congenital disorder of glycosylation type Iy", "CDG-Iy", "Congenital disorder of glycosylation type 1y", "CDG1Y", "CDG IY", "Alternative titles", "Carbohydrate deficient glycoprotein syndrome type Iy"], "genereviews": ["NBK1332"]}
|
Patellar subluxation syndrome
Other namesPatellar instability, Onstable kneecap
Patellar subluxation syndrome, is an injury that is concerned with the kneecap. Patellar subluxation is more common than patellar dislocation and is just as disabling.[1]
In this condition, the patella repetitively subluxates and places strain on the medial restraints and excessive stress/tension on the patellofemoral joint. Patellar subluxation can be caused by osseous abnormalities, such as incorrect articulation of the femoral groove with the patella, trochlear dysplasia, or patella alta, which is a distance of greater than 20 mm between the tibial tubercle and the trochlear groove. It can also result from soft-tissue abnormalities, such as a torn medial patellofemoral ligament, or a weakened vastus medialis obliquus.[2] Symptoms are regulated by the amount of activity. Such pain is commonly caused by running and jumping sports and activities[1] that place large forces on the patellofemoral joint.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 3.1 Conservative Treatment
* 3.2 Surgical Treatment Options
* 4 References
## Signs and symptoms[edit]
Symptoms usually include:[3]
* Knee buckles and can no longer support your weight
* Kneecap slips off to the side
* Knee catches during movement
* Pain in the front of the knee that increases with activity
* Pain when sitting
* Stiffness
* Creaking or cracking sounds during movement
* Swelling
Patellar subluxation was once thought to occur mainly in women,[1] due to the frequency of genu valgum and lax ligaments. However, now the frequency of this condition in any athletic person, man or woman, is apparent.[citation needed]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (March 2018)
## Treatment[edit]
### Conservative Treatment[edit]
Conservative treatment in primary acute LPD (lateral patellar dislocation) is the therapy of choice. It includes a multimodal approach with behavioural education of the patient, physical therapy, braces, weight reduction and pain medication.[4]
Physical therapy especially focuses on muscle strengthening and proprioceptive exercises. The vastus medialis oblique muscle is described to have an important role in functional stabilization of the patella against lateral vector force.[5] Proprioceptive exercises and strengthening of the hip abductors and positioning of the foot are crucial, especially indicated in patient with miserable malalignment syndrome or medial collapse.[6]
Several patellar braces or taping methods exist to improve return to sport. They may however not alter medial or lateral displacement, but can be helpful as a diagnostic tool for occult patellofemoral instability.[7]
### Surgical Treatment Options[edit]
Increasing age is associated with decreased physical activity after surgical stabilization, and therefore in growing and very active athletes early surgical treatment intervention needs to be considered. Reconstruction of the MPFL (medial patellofemoral ligament) in patients with minor trochlear dysplasia is technically possible without interfering with distal growth plate of the femur,[8] however, large studies are missing. Osseous articular correction before epiphyseal closure is contraindicated.[9]
In adult patients with recurrent LPD and without trochlear dysplasia or type A or C according to Dejour classification, MPFL reconstruction alone might be beneficial, in which unchanged osseous or dynamic instability will be compensated.[10] Patients with an important supra-trochlear spur as in type B and D trochlear dysplasia and chronic instability are more reluctant to conservative and softtissue surgical treatment options.[11] In such cases sulcus-deepening trochleoplasty should be performed.[10] Typically, post-surgical results are more favourable when instability was the main symptom. Hence, in such patients low-pivoting physical activity may be re-achieved.
## References[edit]
1. ^ a b c Dr. Ellison, A. E., M.D. et al. 1985. Athletic Training and Sports Medicine. New York: American Academy of Orthopedic Surgeons. First edition; second printing. ISBN 0-89203-002-X.
2. ^ Colvin AC, West RV (Dec 2008). "Patellar instability". J Bone Joint Surg Am. 90 (12): 2751–62. doi:10.2106/JBJS.H.00211. PMID 19047722.
3. ^ [1]
4. ^ Hing CB, Smith TO, Donell S, et al. (2011). Hing CB (ed.). "Surgical versus non-surgical interventions for treating patellar dislocation". Cochrane Database Syst Rev. 9 (11): CD008106. doi:10.1002/14651858.cd008106.pub2. PMID 22071844.
5. ^ Smith TO, Bowyer D, Dixon J, et al. (2009). "Can vastus medialis oblique be preferentially activated? A systematic review of electromyographic studies". Physiother Theory Pract. 25 (2): 69–98. doi:10.1080/09593980802686953. PMID 19212898. S2CID 205654590.
6. ^ Mascal CL, Landel R, Powers C (2003). "Management of patellofemoral pain targeting hip, pelvis, and trunk muscle function: 2 case reports". J Orthop Sports Phys Ther. 33 (11): 647–60. doi:10.2519/jospt.2003.33.11.647. PMID 14669960.
7. ^ Callaghan MJ, Selfe J (2012). "Patellar taping for patellofemoral pain syndrome in adults" (PDF). Cochrane Database Syst Rev. 18 (4): CD006717. doi:10.1002/14651858.cd006717.pub2. PMID 22513943.
8. ^ Nelitz M, Dornacher D, Dreyhaupt J, et al. (2011). "The relationship of the distal femoral physis and the medial patellofemoral ligament". Knee Surg Sports Traumatol Arthrosc. 19 (12): 2067–71. doi:10.1007/s00167-011-1548-3. PMID 21594662. S2CID 24492339.
9. ^ Dejour D, Saggin P (2010). "The sulcus deepening trochleaplasty - the Lyon's procedure". Int Orthop. 34 (2): 311–6. doi:10.1007/s00264-009-0933-8. PMC 2899349. PMID 20062988.
10. ^ a b Fucentese SF, Zingg PO, Schmitt J, et al. (2011). "Classification of trochlear dysplasia as predictor of clinical outcome after trochleoplasty" (PDF). Knee Surg Sports Traumatol Arthrosc. 19 (10): 1655–61. doi:10.1007/s00167-011-1410-7. PMID 21302049. S2CID 12992137.
11. ^ Fithian DC, Paxton EW, Stone ML, et al. (2004). "Epidemiology and natural history of acute patellar dislocation". Am J Sports Med. 32 (5): 1114–21. doi:10.1177/0363546503260788. PMID 15262631. S2CID 11899852.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Patellar subluxation syndrome
|
c0857276
| 7,107 |
wikipedia
|
https://en.wikipedia.org/wiki/Patellar_subluxation_syndrome
| 2021-01-18T18:58:41 |
{"umls": ["C0857276"], "wikidata": ["Q7144432"]}
|
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: "Congenital epulis" – news · newspapers · books · scholar · JSTOR (April 2008) (Learn how and when to remove this template message)
Congenital epulis
Other namesCongenital gingival cell tumor
SpecialtyOncology, oral and maxillofacial surgery
Congenital epulis is a proliferation of cells most frequently occurring on the alveolar ridge of the upper jaw at birth. Less frequently the mass may arise from the mandibular alveolus. Rare cases can arise from the tongue. This lesion is more commonly found in female babies, suggesting hormonal involvement during embryonic development. The cause of this type of epulis is unknown. Also known as congenital granular cell tumor or Neumann's tumor; historically referred to as granular cell myoblastoma.
Multiple lesions occur in 10% of affected neonates. The tumor is typically pedunculated and varies in maximum size from 0.5 cm to 9 cm. The lesion is typically painless and does not increase in size after discovery. Some small lesions may regress over time. Treatment is surgical excision. Recurrence is extremely rare even after incomplete excision.
## References[edit]
* Kahn, Michael A. Basic Oral and Maxillofacial Pathology. Volume 1. 2001.
* Husain AN, Stocker JT, Dehner LP. Stocker and Dehner's Pediatric Pathology, 4th Ed. Wolters Kluwer, 2016, page 1027.
* Goldblum JR, Folpe AL, Weiss SW. Enzinger and Weiss's Soft Tissue Tumors, 6th Ed. Elsevier Saunders, 2014, page 845.
## External links[edit]
Classification
D
* MeSH: D005887
* DiseasesDB: 32726
External resources
* Orphanet: 157826
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
This article about a congenital malformation 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
|
Congenital epulis
|
c0376319
| 7,108 |
wikipedia
|
https://en.wikipedia.org/wiki/Congenital_epulis
| 2021-01-18T18:27:59 |
{"mesh": ["D005887"], "umls": ["C0376319"], "orphanet": ["157826"], "wikidata": ["Q5160427"]}
|
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Trichorhinophalangeal syndrome type 3
|
c1860823
| 7,109 |
gard
|
https://rarediseases.info.nih.gov/diseases/7802/trichorhinophalangeal-syndrome-type-3
| 2021-01-18T17:57:18 |
{"mesh": ["C566033"], "omim": ["190351"], "umls": ["C1860823"], "orphanet": ["77258"], "synonyms": ["TRPS 3", "Sugio-Kajii Syndrome"]}
|
Voice disorder
Hoarse voice
Other namesHoarseness, dysphonia
The vocal folds (or vocal cords) in the larynx vibrate to produce sound. When this process is disturbed hoarseness may ensue.
SpecialtyOtolaryngology
A hoarse voice, also known as dysphonia or hoarseness,[1] is when the voice involuntarily sounds breathy, raspy, or strained, or is softer in volume or lower in pitch.[2][3][clarification needed] A hoarse voice, can be associated with a feeling of unease or scratchiness in the throat.[2] Hoarseness is often a symptom of problems in the vocal folds of the larynx.[2] It may be caused by laryngitis, which in turn may be caused by an upper respiratory infection, a cold, or allergies.[2] Cheering at sporting events, speaking loudly in noisy situations, talking for too long without resting one's voice, singing loudly, or speaking with a voice that's too high or too low can also cause temporary hoarseness.[2] A number of other causes for losing one's voice exist, and treatment is generally by resting the voice and treating the underlying cause.[2] If the cause is misuse or overuse of the voice, drinking plenty of water may alleviate the problems.[2]
It appears to occur more commonly in females and the elderly.[4] Furthermore, certain occupational groups, such as teachers and singers, are at an increased risk.[5][6]
Long-term hoarseness, or hoarseness that persists over three weeks, especially when not associated with a cold or flu should be assessed by a medical doctor.[2] It is also recommended to see a doctor if hoarseness is associated with coughing up blood, difficulties swallowing, a lump in the neck, pain when speaking or swallowing, difficulty breathing, or complete loss of voice for more than a few days.[2] For voice to be classified as "dysphonic", abnormalities must be present in one or more vocal parameters: pitch, loudness, quality, or variability.[7] Perceptually, dysphonia can be characterised by hoarse, breathy, harsh, or rough vocal qualities, but some kind of phonation remains.[7]
Dysphonia can be categorized into two broad main types: organic and functional, and classification is based on the underlying pathology. While the causes of dysphonia can be divided into five basic categories, all of them result in an interruption of the ability of the vocal folds to vibrate normally during exhalation, which affects the voice. The assessment and diagnosis of dysphonia is done by a multidisciplinary team, and involves the use of a variety of subjective and objective measures, which look at both the quality of the voice as well as the physical state of the larynx.[citation needed] Multiple treatments have been developed to address organic and functional causes of dysphonia. Dysphonia can be targeted through direct therapy, indirect therapy, medical treatments, and surgery. Functional dysphonias may be treated through direct and indirect voice therapies, whereas surgeries are recommended for chronic, organic dysphonias.[8]
## Contents
* 1 Types
* 2 Causes
* 2.1 Employment
* 3 Mechanism
* 4 Diagnosis
* 4.1 Definition
* 4.2 Auditory-perceptual measures
* 4.3 Vocal fold imaging
* 4.4 Acoustic measures
* 4.5 Aerodynamic measures
* 5 Prevention
* 6 Treatment
* 6.1 Direct therapies
* 6.2 Indirect therapies
* 6.3 Medication and surgery
* 7 Epidemiology
* 8 References
* 9 External links
## Types[edit]
Voice disorders can be divided into 2 broad categories: organic and functional.[9] The distinction between these broad classes stems from their cause, whereby organic dysphonia results from some sort of physiological change in one of the subsystems of speech (for voice, usually respiration, laryngeal anatomy, and/or other parts of the vocal tract are affected). Conversely, functional dysphonia refers to hoarseness resulting from vocal use (i.e. overuse/abuse).[10] Furthermore, according to ASHA, organic dysphonia can be subdivided into structural and neurogenic; neurogenic dysphonia is defined as impaired functioning of the vocal structure due to a neurological problem (in the central nervous system or peripheral nervous system); in contrast, structural dysphonia is defined as impaired functioning of the vocal mechanism that is caused by some sort of physical change (e.g. a lesion on the vocal folds).[10] Notably, an additional subcategory of functional dysphonia recognized by professionals is psychogenic dysphonia, which can be defined as a type of voice disorder that has no known cause and can be presumed to be a product of some sort of psychological stressors in one's environment.[10][11] It is important to note that these types are not mutually exclusive and much overlap occurs. For example, Muscle Tension Dysphonia (MTD) has been found to be a result of many different causes including the following: MTD in the presence of an organic pathology (i.e. organic type), MTD stemming from vocal use (i.e. functional type), and MTD as a result of personality and/or psychological factors (i.e. psychogenic type).[10][12]
* Organic dysphonia
* Laryngitis (Acute: viral, bacterial) - (Chronic: smoking, GERD, LPR)
* Neoplasm (Premalignant: dysplasia) - (Malignant: Squamous cell carcinoma)
* Trauma (Iatrogenic: surgery, intubation) - (Accidental: blunt, penetrating, thermal)
* Endocrine (Hypothyroidism, hypogonadism)
* Haematological (Amyloidosis)
* Iatrogenic (inhaled corticosteroids)
* Functional dysphonia
* Psychogenic
* Vocal misuse
* Idiopathic
## Causes[edit]
The most common causes of hoarseness is laryngitis (acute 42.1%; chronic 9.7%) and functional dysphonia (30%).[13] Hoarseness can also be caused by laryngeal tumours (benign 10.7 - 31%; malignant 2.2 - 3.0%).[13] Causes that are overall less common include neurogenic conditions (2.8 - 8.0%), psychogenic conditions (2.0 - 2.2%), and aging (2%).[13]
A variety of different causes, which result in abnormal vibrations of the vocal folds, can cause dysphonia. These causes can range from vocal abuse and misuse to systemic diseases. Causes of dysphonia can be divided into five basic categories, although overlap may occur between categories.[14][15][16][17] (Note that this list is not exhaustive):
1. Neoplastic/structural: Abnormal growths of the vocal fold tissue.
* Dysplasia
* Cysts
* Polyps
* Nodules
* Carcinoma
2. Inflammatory: Changes in the vocal fold tissue as a result of inflammation.
* Allergy
* Infections
* Reflux
* Smoking
* Trauma
* Voice abuse
3. Neuromuscular: Disturbances in any of the components of the nervous system that control laryngeal function.
* Multiple Sclerosis
* Myasthenia Gravis
* Parkinson’s disease
* Spasmodic Dysphonia
* Nerve injury
4. Associated Systemic Diseases: Systemic diseases which have manifestations that affect the voice.
* Acromegaly
* Amyloidosis
* Hypothyroidism
* Sarcoidosis
5. Technical: Associated with poor muscle functioning or psychological stresses, with no corresponding physiological abnormalities of the larynx.
* Psychogenic such as dissociation disorder[18]
* Excess demands
* Stress
* Vocal strain
### Employment[edit]
It has been suggested that certain occupational groups may be at increased risk of developing dysphonia[5][6] due to the excessive or intense vocal demands of their work.[19] Research on this topic has primarily focused on teachers and singers, although some studies have examined other groups of heavy voice users (e.g. actors, cheerleaders, aerobic instructors, etc.).[5][20] At present, it is known that teachers and singers are likely to report dysphonia.[19][21] Moreover, physical education teachers, teachers in noisy environments, and those who habitually use a loud speaking voice are at increased risk.[19] However, the exact prevalence rates for occupational voice users are unclear, as individual studies have varied widely in the methodologies used to obtain data (e.g. employing different operational definitions for "singer").[19][21]
## Mechanism[edit]
Located in the anterior portion of the neck is the larynx (also known as the voice box), a structure made up of several supporting cartilages and ligaments, which houses the vocal folds.[22] In normal voice production, exhaled air moves out of the lungs and passes upward through the vocal tract.[22] At the level of the larynx, the exhaled air causes the vocal folds to move toward the midline of the tract (a process called adduction). The adducted vocal folds do not close completely but instead remain partially open. The narrow opening between the folds is referred to as the glottis.[22][7] As air moves through the glottis, it causes a distortion of the air particles which sets the vocal folds into vibratory motion. It is this vibratory motion that produces phonation or voice.[7] In dysphonia, there is an impairment in the ability to produce an appropriate level of phonation. More specifically, it results from an impairment in vocal fold vibration or the nerve supply of the larynx.[7]
## Diagnosis[edit]
The assessment and diagnosis of a dysphonic voice is completed by a multidisciplinary team, such as an otolaryngologist (ear, nose and throat doctor) and Speech-Language Pathologist, involving the use of both objective and subjective measures to evaluate the quality of the voice as well as the condition of the vocal fold tissue and vibration patterns.[23]
### Definition[edit]
Dysphonia is a broad clinical term which refers to abnormal functioning of the voice.[22][7] More specifically, a voice can be classified as “dysphonic” when there are abnormalities or impairments in one or more of the following parameters of voice: pitch, loudness, quality, and variability.[7] For example, abnormal pitch can be characterized by a voice that is too high or low whereas abnormal loudness can be characterized by a voice that is too quiet or loud.[7] Similarly, a voice that has frequent, inappropriate breaks characterizes abnormal quality while a voice that is monotone (i.e., very flat) or inappropriately fluctuates characterizes abnormal variability.[7] While hoarseness is used interchangeably with the term dysphonia, it is important to note that the two are not synonymous. Hoarseness is merely a subjective term to explain the perceptual quality (or sound) of a dysphonic voice.[24] While hoarseness is a common symptom (or complaint) of dysphonia,[22] there are several other signs and symptoms that can be present such as: breathiness, roughness, and dryness. Furthermore, a voice can be classified as dysphonic when it poses problems in the functional or occupational needs of the individual or is inappropriate for their age or sex.[7]
### Auditory-perceptual measures[edit]
Auditory-perceptual measures are the most commonly used tool by clinicians to evaluate the voice quality due to its quick and non-invasive nature.[25] Additionally, these measure have been proven to be reliable in a clinical setting.[26] Ratings are used to evaluate the quality of a patient's voice for a variety of voice features, including overall severity, roughness, breathiness, strain, loudness and pitch. These evaluations are done during spontaneous speech, sentence or passage reading or sustained vowel productions.[17] The GRBAS (Grade, Roughness, Breathiness, Asthenia, Strain) and the CAPE-V (Consensus Auditory Perceptual Evaluation—Voice) are two formal voice rating scales commonly used for this purpose.[25]
### Vocal fold imaging[edit]
Vocal fold imaging techniques are used by clinicians to examine the vocal folds and allows them to detect vocal pathology and assess the quality of the vocal fold vibrations. Laryngeal stroboscopy is the primary clinical tool used for this purpose. Laryngeal stroboscopy uses a synchronized flashing light passed through either a rigid or flexible laryngoscope to provide an image of the vocal fold motion; the image is created by averaging over several vibratory cycles and is thus not provided in real-time.[27] As this technique relies on periodic vocal fold vibration, it cannot be used in patients with moderate to severe dysphonia.[17] High speed digital imaging of the vocal folds (videokymography), another imaging technique, is not subject to the same limitations as laryngeal stroboscopy. A rigid endoscope is used to take images at a rate of 8000 frames per second, and the image is displayed in real time. As well, this technique allows imaging of aperiodic vibrations[17] and can thus be used with patients presenting with all severities of dysphonia.
### Acoustic measures[edit]
Acoustic measures can be used to provide objective measures of vocal function. Signal processing algorithms are applied to voice recordings made during sustained phonation or during spontaneous speech.[28] The acoustic parameters which can then be examined include fundamental frequency, signal amplitude, jitter, shimmer, and noise-to-harmonic ratios.[17] However, due to limitations imposed by the algorithms employed, these measures cannot be used with patients who exhibit severe dysphonia.[28]
### Aerodynamic measures[edit]
Aerodynamic measures of voice include measures of air volume, air flow and sub glottal air pressure. The normal aerodynamic parameters of voice vary considerably among individuals, which leads to a large overlapping range of values between dysphonic and non-dysphonic patients. This limits the use of these measures as a diagnostic tool.[17] Nonetheless, they are useful when used in adjunct with other voice assessment measures, or as a tool for monitoring therapeutic effects over time.[26]
## Prevention[edit]
Given that certain occupations are more at risk for developing dysphonia (e.g. teachers) research into prevention studies have been conducted.[29] Research into the effectiveness of prevention strategies for dysphonia have yet to produce definitive results, however, research is still ongoing.[9][29] Primarily, there are two types of vocal training recognized by professionals to help with prevention: direct and indirect. Direct prevention describes efforts to reduce conditions that may serve to increase vocal strain (such as patient education, relaxation strategies, etc.), while indirect prevention strategies refer to changes in the underlying physiological mechanism for voice production (e.g., adjustments to the manner in which vocal fold adduction occurs, respiratory training, shifting postural habits, etc.).[9][29]
## Treatment[edit]
Although there is no universal classification of voice problems, voice disorders can be separated into certain categories: organic (structural or neurogenic), functional, neurological (psychogenic) or iatrogenic, for example.[30] Depending on the diagnosis and severity of the voice problem, and depending on the category that the voice disorder falls into, there are various treatment methods that can be suggested to the patient. The professional has to keep in mind there is not one universal treatment, but rather the clinical approach must find what the optimal effective course of action for that particular patient is.[citation needed]
There are three main type of treatments: medical treatments, voice therapy and surgical treatments.[31] When necessary, certain voice disorders use a combination of treatment approaches.[9] A medical treatment involves the use of botulinum toxin (botox) or anti-reflux medicines, for example. Botox is a key treatment for voice disorders such as Spasmodic Dysphonia.[32] Voice therapy is mainly used with patients who have an underlying cause of voice misuse or abuse.[33] Laryngologists also recommend this type of treatment to patients who have an organic voice disorder - such as vocal fold nodules, cysts or polyps as well as to treat functional dysphonia.[9] Certain surgical treatments can be implemented as well - phono microsurgery (removal of vocal fold lesions performed with a microscope), laryngeal framework surgery (the manipulation of the voice box), as well as injection augmentation (injection of substance to vocal folds to improve closure). Surgical treatments may be recommended for patients having an organic dysphonia.[34][35]
A combination of both an indirect treatment method (an approach used to change external factors affecting the vocal folds)[36] and a direct treatment method (an approach used where the mechanisms functioning during the use of the vocal folds, such as phonation or respiration, are the main focus)[36] may be used to treat dysphonia.[9][12][37][38]
### Direct therapies[edit]
Direct therapies address the physical aspects of vocal production.[9] Techniques work to either modify vocal fold contact, manage breathing patterns, and/or change the tension at level of the larynx.[9] Notable techniques include, but are not limited to, the yawn-sigh method, optimal pitch, laryngeal manipulation, humming, the accent method, and the Lee Silverman Voice Treatment.[9][37] An example of a direct therapy is circumlaryngeal manual therapy, which has been used to reduce tension and massage hyoid-laryngeal muscles.[12] This area is often tense from chronic elevation of the larynx.[12] Pressure is applied to these areas as the patient hums or sustains a vowel.[12] Traditional voice therapy is often used to treat muscular tension dysphonia.[12]
### Indirect therapies[edit]
Indirect therapies take into account external factors that may influence vocal production.[9] This incorporates maintenance of vocal hygiene practices, as well as the prevention of harmful vocal behaviours.[39] Vocal hygiene includes adequate hydration of the vocal folds, monitoring the amount of voice use and rest, avoidance of vocal abuse (e.g., shouting, clearing of the throat), and taking into consideration lifestyle choices that may affect vocal health (e.g., smoking, sleeping habits).[39] Vocal warm-ups and cool-downs may be employed to improve muscle tension and decrease risk of injury before strenuous vocal activities.[39] It should be taken into account that vocal hygiene practices alone are minimally effective in treating dysphonia, and thus should be paired with other therapies.[39]
### Medication and surgery[edit]
Medical and surgical treatments have been recommended to treat organic dysphonias. An effective treatment for spasmodic dysphonia (hoarseness resulting from periodic breaks in phonation due to hyperadduction of the vocal folds) is botulinum toxin injection.[8][40] The toxin acts by blocking acetylcholine release at the thyro-arytenoid muscle. Although the use of botlinum toxin injections is considered relatively safe, patients' responses to treatment differ in the initial stages; some have reported experiencing swallowing problems and breathy voice quality as a side-effect to the injections.[8][40] Breathiness may last for a longer period of time for males than females.[40]
Surgeries involve myoectomies of the laryngeal muscles to reduce voice breaks, and laryngoplasties, in which laryngeal cartilage is altered to reduce tension.[8]
## Epidemiology[edit]
Dysphonia is a general term for voice impairment that is sometimes used synonymously with the perceptual voice quality of hoarseness.[13] It is the reason for 1% of all visits to primary care providers.[13] The lifetime risk of hoarse voice complaints among primary care patients is 30%.[13] Since hoarseness is a general symptom, it is associated with a number of laryngeal diagnoses.[13]
There is an interplay of sex and age differences associated with dysphonia. The point prevalence of dysphonia in adults under the age of 65 is 6.6%.[20] Dysphonia is more common in adult females than males,[20][41] possibly due to sex-related anatomical differences of the vocal mechanism.[4] In childhood, however, dysphonia is more often found in boys than girls.[42] As there are no anatomical differences in larynges of boys and girls prior to puberty, it has been proposed that the higher rate of voice impairment found in boys arises from louder social activities, personality factors, or more frequent inappropriate vocal use.[42] The most common laryngeal diagnosis among children is vocal fold nodules,[20] a condition known to be associated with vocally damaging behaviours.[43] However, a causal relationship has not yet been definitively proven.[42] The overall prevalence of dysphonia in children ranges from 3.9% - 23.4%, most commonly affecting children between the ages of 8 - 14.[20] Among the elderly, dysphonia is associated with both naturally occurring anatomical and physiological changes as well as higher rates of pathological conditions.[41] The point prevalence of dysphonia among the elderly is 29%.[20] Findings regarding the prevalence of geriatric dysphonia in the general population are very variable, ranging from 4 - 29.1%.[41] This variability is likely due to different methodology used in obtaining information from participants.[20] The most common laryngeal diagnoses among the elderly are polyps, laryngopharyngeal reflux, muscle tension dysphonia, vocal fold paresis or paralysis, vocal fold mass, glottic insufficiency, malignant lesions, and neurologic conditions affecting the larynx.[41]
## References[edit]
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2. ^ a b c d e f g h i "Hoarseness". NIDCD. 2015-08-18. Retrieved 2017-07-24.
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10. ^ a b c d "Voice Disorders Overview". American Speech-Language Hearing Association. Retrieved October 2, 2016.
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12. ^ a b c d e f Van Houtte E, Van Lierde K, Claeys S (March 2011). "Pathophysiology and treatment of muscle tension dysphonia: a review of the current knowledge". Journal of Voice. 25 (2): 202–7. doi:10.1016/j.jvoice.2009.10.009. PMID 20400263.
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18. ^ Dr Pragya Semwal, Dr Shobit Garg Chronic Dissociation Presenting as Dysphonia Plica Ventricularis: An Atypical Presentation. Int. j. med. case reports Vol 6 Issue 3 Jul-Sep 2020 1-3. http://www.ijomcr.net
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20. ^ a b c d e f g Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CC, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC (March 2018). "Clinical Practice Guideline: Hoarseness (Dysphonia) (Update)". Otolaryngology–Head and Neck Surgery. 158 (1_suppl): S1–S42. doi:10.1177/0194599817751030. PMID 29494321.
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22. ^ a b c d e Colton, R. H., Casper, J. K., Leonard, R. (2011). Understanding voice problems: A physiological perspective for diagnosis and treatment. Baltimore, MB: Lippincott Williams & Wilkins. pp. 372–385.
23. ^ Mehta DD, Hillman RE (June 2008). "Voice assessment: updates on perceptual, acoustic, aerodynamic, and endoscopic imaging methods". Current Opinion in Otolaryngology & Head and Neck Surgery. 16 (3): 211–5. doi:10.1097/moo.0b013e3282fe96ce. PMC 3775647. PMID 18475073.
24. ^ Schwartz SR, Cohen SM, Dailey SH, Rosenfeld RM, Deutsch ES, Gillespie MB, Granieri E, Hapner ER, Kimball CE, Krouse HJ, McMurray JS, Medina S, O'Brien K, Ouellette DR, Messinger-Rapport BJ, Stachler RJ, Strode S, Thompson DM, Stemple JC, Willging JP, Cowley T, McCoy S, Bernad PG, Patel MM (September 2009). "Clinical practice guideline: hoarseness (dysphonia)". Otolaryngology–Head and Neck Surgery. 141 (3 Suppl 2): S1–S31. doi:10.1016/j.otohns.2009.06.744. PMID 19729111.
25. ^ a b Oates J (2009). "Auditory-perceptual evaluation of disordered voice quality: pros, cons and future directions". Folia Phoniatrica et Logopaedica. 61 (1): 49–56. doi:10.1159/000200768. PMID 19204393.
26. ^ a b Dejonckere PH, Bradley P, Clemente P, Cornut G, Crevier-Buchman L, Friedrich G, Van De Heyning P, Remacle M, Woisard V (February 2001). "A basic protocol for functional assessment of voice pathology, especially for investigating the efficacy of (phonosurgical) treatments and evaluating new assessment techniques. Guideline elaborated by the Committee on Phoniatrics of the European Laryngological Society (ELS)". European Archives of Oto-Rhino-Laryngology. 258 (2): 77–82. doi:10.1007/s004050000299. PMID 11307610.
27. ^ Kendall KA (March 2009). "High-speed laryngeal imaging compared with videostroboscopy in healthy subjects". Archives of Otolaryngology–Head & Neck Surgery. 135 (3): 274–81. doi:10.1001/archoto.2008.557. PMID 19289706.
28. ^ a b Little MA, McSharry PE, Roberts SJ, Costello DA, Moroz IM (June 2007). "Exploiting nonlinear recurrence and fractal scaling properties for voice disorder detection". BioMedical Engineering OnLine. 6: 23. doi:10.1186/1475-925X-6-23. PMC 1913514. PMID 17594480.
29. ^ a b c Ruotsalainen JH, Sellman J, Lehto L, Jauhiainen M, Verbeek JH (October 2007). "Interventions for preventing voice disorders in adults". The Cochrane Database of Systematic Reviews. 4 (4): CD006372. doi:10.1002/14651858.cd006372.pub2. PMID 17943906.
30. ^ Morrison MD, Rammage LA (May 1993). "Muscle misuse voice disorders: description and classification". Acta Oto-Laryngologica. 113 (3): 428–34. doi:10.3109/00016489309135839. PMID 8517149.
31. ^ Maryn Y, De Bodt M, Roy N (May 2010). "The Acoustic Voice Quality Index: toward improved treatment outcomes assessment in voice disorders". Journal of Communication Disorders. 43 (3): 161–74. doi:10.1016/j.jcomdis.2009.12.004. PMID 20080243.
32. ^ Kim JW, Park JH, Park KN, Lee SW (2014). "Treatment efficacy of electromyography versus fiberscopy-guided botulinum toxin injection in adductor spasmodic dysphonia patients: a prospective comparative study". TheScientificWorldJournal. 2014: 327928. doi:10.1155/2014/327928. PMC 4213399. PMID 25383369.
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34. ^ Nacci A, Romeo SO, Berrettini S, Matteucci J, Cavaliere MD, Mancini V, Panicucci E, Ursino F, Fattori B (August 2017). "Stabilometric findings in patients affected by organic dysphonia before and after phonomicrosurgery". Acta Otorhinolaryngologica Italica. 37 (4): 286–294. doi:10.14639/0392-100x-1035. PMC 5584100. PMID 28872158.
35. ^ Encyclopedia of otolaryngology, head and neck surgery. Kountakis, Stilianos E. Berlin: Springer. 2013. ISBN 9783642234996. OCLC 837855971.CS1 maint: others (link)
36. ^ a b "Voice Disorders: Treatment". American Speech-Language-Hearing Association. Retrieved 2018-10-03.
37. ^ a b Hicks DM (June 1999). "The efficacy of voice treatment". Current Opinion in Otolaryngology & Head and Neck Surgery. 7 (3): 125. doi:10.1097/00020840-199906000-00005.
38. ^ Ulis JM, Yanagisawa E (June 2009). "What's new in differential diagnosis and treatment of hoarseness?". Current Opinion in Otolaryngology & Head and Neck Surgery. 17 (3): 209–15. doi:10.1097/moo.0b013e32832a2230. PMID 19469052.
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## External links[edit]
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* ICD-10: R49.0
* ICD-9-CM: 784.42
* MeSH: D055154
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*[c.]: circa
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|
Hoarse voice
|
c1527344
| 7,110 |
wikipedia
|
https://en.wikipedia.org/wiki/Hoarse_voice
| 2021-01-18T18:53:39 |
{"mesh": ["D055154"], "umls": ["C1527344"], "icd-9": ["784.42"], "icd-10": ["R49"], "wikidata": ["Q836379"]}
|
Laryngoonychocutaneous syndrome
SpecialtyDermatology
Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion.[1][2] It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous").[3] The disorder is only found in Punjabi Muslims and only a few cases have been reported.[4]
It was characterized by Pakistani dermotologist Syed Ghulam Shabbir (1923–2002)[5] in 1986.[6][7]
It may be associated with LAMA3.[8]
## See also[edit]
* Watson syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 712. ISBN 978-1-4160-2999-1.
2. ^ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
3. ^ "Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2020-11-01.
4. ^ McLean, W. H. I. (2003-07-15). "An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Human Molecular Genetics. 12 (18): 2395–2409. doi:10.1093/hmg/ddg234. ISSN 1460-2083. PMID 12915477.
5. ^ Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.
6. ^ Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
7. ^ Online Mendelian Inheritance in Man (OMIM): 245660
8. ^ McLean WH, Irvine AD, Hamill KJ, et al. (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477.
## External links[edit]
* Laryngo-onycho-cutaneous syndrome on MedlinePlus
Classification
D
* OMIM: 245660
* MeSH: C537032
* v
* t
* e
Diseases of collagen, laminin and other scleroproteins
Collagen disease
COL1:
* Osteogenesis imperfecta
* Ehlers–Danlos syndrome, types 1, 2, 7
COL2:
* Hypochondrogenesis
* Achondrogenesis type 2
* Stickler syndrome
* Marshall syndrome
* Spondyloepiphyseal dysplasia congenita
* Spondyloepimetaphyseal dysplasia, Strudwick type
* Kniest dysplasia (see also C2/11)
COL3:
* Ehlers–Danlos syndrome, types 3 & 4
* Sack–Barabas syndrome
COL4:
* Alport syndrome
COL5:
* Ehlers–Danlos syndrome, types 1 & 2
COL6:
* Bethlem myopathy
* Ullrich congenital muscular dystrophy
COL7:
* Epidermolysis bullosa dystrophica
* Recessive dystrophic epidermolysis bullosa
* Bart syndrome
* Transient bullous dermolysis of the newborn
COL8:
* Fuchs' dystrophy 1
COL9:
* Multiple epiphyseal dysplasia 2, 3, 6
COL10:
* Schmid metaphyseal chondrodysplasia
COL11:
* Weissenbacher–Zweymüller syndrome
* Otospondylomegaepiphyseal dysplasia (see also C2/11)
COL17:
* Bullous pemphigoid
COL18:
* Knobloch syndrome
Laminin
* Junctional epidermolysis bullosa
* Laryngoonychocutaneous syndrome
Other
* Congenital stromal corneal dystrophy
* Raine syndrome
* Urbach–Wiethe disease
* TECTA
* DFNA8/12, DFNB21
see also fibrous proteins
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Laryngo-onycho-cutaneous syndrome
|
c1328355
| 7,111 |
wikipedia
|
https://en.wikipedia.org/wiki/Laryngo-onycho-cutaneous_syndrome
| 2021-01-18T19:06:59 |
{"mesh": ["C537032"], "umls": ["C1328355"], "orphanet": ["2407"], "wikidata": ["Q6491971"]}
|
Aspermia
SpecialtyUrology
Aspermia is the complete lack of semen with ejaculation (not to be confused with azoospermia, the lack of sperm cells in the semen). It is associated with infertility.
One of the causes of aspermia is retrograde ejaculation,[1] which can be brought on by excessive drug use, or as a result of prostate surgery. It can also be caused by alpha blockers such as tamsulosin and silodosin.
-spermia,
Further information: Testicular infertility factors
* view
* talk
* edit
Aspermia —lack of semen; anejaculation
Asthenozoospermia —sperm motility below lower reference limit
Azoospermia —absence of sperm in the ejaculate
Hyperspermia —semen volume above higher reference limit
Hypospermia —semen volume below lower reference limit
Oligozoospermia —total sperm count below lower reference limit
Necrozoospermia—absence of living sperm in the ejaculate
Teratozoospermia —percent normal forms below lower reference limit
Another cause of aspermia is ejaculatory duct obstruction, which may result in a complete lack of or a very low-concentration semen (oligospermia), in which the semen contains only the secretion of accessory prostate glands downstream to the orifice of the ejaculatory ducts.
Aspermia can be caused by androgen deficiency.[2][3][4][5] This can be the result of absence of puberty, in which the prostate gland and seminal vesicles (which are the main sources of semen) remain small due to lack of androgen exposure and do not produce seminal fluid, or of treatment for prostate cancer, such as maximal androgen blockade.[6]
## See also[edit]
* Retrograde ejaculation
* Ejaculatory duct obstruction
## References[edit]
1. ^ UCSB's SexInfo
2. ^ Eberhard Nieschlag; Hermann Behre (29 June 2013). Andrology: Male Reproductive Health and Dysfunction. Springer Science & Business Media. pp. 54–. ISBN 978-3-662-04491-9.
3. ^ Wayne J.G. Hellstrom (28 November 2012). Androgen Deficiency and Testosterone Replacement: Current Controversies and Strategies. Springer Science & Business Media. pp. 34–. ISBN 978-1-62703-179-0.
4. ^ Carrie Bagatell; William J. Bremner (27 May 2003). Androgens in Health and Disease. Springer Science & Business Media. pp. 314–. ISBN 978-1-59259-388-0.
5. ^ Susan Blackburn (14 April 2014). Maternal, Fetal, & Neonatal Physiology. Elsevier Health Sciences. pp. 39–. ISBN 978-0-323-29296-2.
6. ^ John J. Mulcahy (1 January 2001). Male Sexual Function. Springer Science & Business Media. pp. 3–. ISBN 978-1-59259-098-8.
## External links[edit]
Classification
D
* ICD-10: N46
* ICD-9-CM: 606.0
* MeSH: D053714
* SNOMED CT: 448921000
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
* Seminal vesiculitis
External
Penis
* Balanoposthitis / Balanitis
* Balanitis plasmacellularis
* Pseudoepitheliomatous keratotic and micaceous balanitis
* Phimosis
* Paraphimosis
* Priapism
* Sexual dysfunction
* Erectile dysfunction
* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness syndrome
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
|
Aspermia
|
c1704202
| 7,112 |
wikipedia
|
https://en.wikipedia.org/wiki/Aspermia
| 2021-01-18T18:39:27 |
{"mesh": ["D053714"], "icd-9": ["606.0"], "icd-10": ["N46"], "wikidata": ["Q736599"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to sarcoidosis-2 (SS2) is conferred by variation in the BTNL2 gene (606000) on chromosome 6p21.
For a general description and a discussion of genetic heterogeneity of sarcoidosis, see 181000.
Mapping
Valentonyte et al. (2005) noted that genomewide linkage analyses had indicated that the extended MHC locus on 6p is linked to susceptibility to sarcoidosis, a polygenic immune disorder with predominant manifestation in the lung; see HLA-DRB1 (142857). Valentonyte et al. (2005) carried out a systematic 3-stage SNP scan of 16.4 Mb on 6p21 in 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the BTNL2 gene was associated with the disease.
Rybicki et al. (2005) sought to replicate the BTNL2 association with sarcoidosis that had been reported by Valentonyte et al. (2005) in a white German population, but noted that the close proximity of BTNL2 to HLA-DRB1 and HLA-DQB1 complicates association studies. Following the suggestion of Just et al. (1997) that increased haplotype diversity in the MHC class II region in populations of African origin may help in differentiating specific gene effects, they studied variation in the exon/intron-5 region of BTNL2 in an African American family sample and in 2 case-control samples, 1 of which was African American and 1 white. They detected 10 SNPs within a 490-bp region. Haplotype variation within this region was significantly associated with sarcoidosis in all 3 study populations but more so in the white sample than in the African American case-control or family-based samples.
Molecular Genetics
In family-based (TDT) and population-based (case-control) studies, Valentonyte et al. (2005) showed that a primary disease-associated variant of BTNL2 (rs2076530; 606000.0001) represents a risk factor for sarcoidosis that is independent of variation in HLA-DRB1. The change resulted in the use of an alternative splice site located 4 bp upstream. The mutant protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting localization of the protein.
In their study of the BTNL2 association with sarcoidosis risk in an African American family-based study population (219 nuclear families) and 2 case-control populations--1 African American (295 pairs) and 1 white (366 pairs), Rybicki et al. (2005) found that the A allele of rs2076530, which results in a premature exon-splice site, increased risk for sarcoidosis (odds ratio = 2.03). Multivariable logistic regression analyses showed that BTNL2 effects were independent of HLA class II genes in whites but may interact antagonistically in African Americans. Rybicki et al. (2005) stated that the clinical characteristics of the study patients were described by Baughman et al. (2001).
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Uveitis Mouth \- Enlarged parotid glands RESPIRATORY \- Dyspnea Lung \- Hilar enlargement \- Bilateral hilar adenopathy \- Interstitial lung disease \- Lung fibrosis ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly SKIN, NAILS, & HAIR Skin \- Erythema nodosum NEUROLOGIC Central Nervous System \- Neurosarcoidosis \- Bell's palsy HEMATOLOGY \- Bone marrow involvement may cause pancytopenia LABORATORY ABNORMALITIES \- Noncaseating granulomas on biopsy \- Abnormalities of calcium metabolism MISCELLANEOUS \- Variable features may be present MOLECULAR BASIS \- Susceptibility conferred by mutation in the butyrophilin-like protein 2 gene (BTNL2, 606000.0001 ) ▲ 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
|
SARCOIDOSIS, SUSCEPTIBILITY TO, 2
|
c0036202
| 7,113 |
omim
|
https://www.omim.org/entry/612387
| 2019-09-22T16:01:36 |
{"mesh": ["D012507"], "omim": ["612387"], "orphanet": ["797"]}
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
|
c4085597
| 7,114 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444077
| 2021-01-23T17:56:21 |
{"gard": ["12845"], "omim": ["616368"], "icd-10": ["Q87.8"], "synonyms": ["CHOPS syndrome"]}
|
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing 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 recessive spastic paraplegia type 78
|
c4310662
| 7,115 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=513436
| 2021-01-23T17:00:47 |
{"omim": ["617225"], "synonyms": ["SPG78"]}
|
A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).
## Epidemiology
Annual incidence of IATM is estimated between 1/1,000,000 and 1/250,000. Incidence of SATM is variable and depends of the underlying disease.
## Clinical description
Age of onset and clinical course vary depending on the form. The clinical manifestations common to both forms include motor involvement (limb weakness, stiffness and muscle spasms with impaired respiratory function in cases with involvement of the upper spinal cord), sensory manifestations (back pain, paresthesia, numbness and neuropathic pain) and autonomic findings (sexual dysfunction, urinary urge/retention, bowel urge/retention and autonomic dysreflexia). Other signs depend on the associated diseases in SATM, with involvement of cranial and peripheral nerves. IATM has a monophasic course whereas SATM may be relapsing.
## Etiology
IATM is believed to be an immune-mediated disease, due to a late immune response against a recent infection that inadvertently targets the spinal cord. SATM is due to an inflammatory disease: multiple sclerosis (MS), neuromyelitis optica (NMO), systemic lupus erythematosus (SLE) and Sjögren's syndrome (see these terms), and may also be due to an infectious disease (bacterial, parasitic or viral).
## Diagnostic methods
Diagnosis requires MRI of the spinal cord to confirm the presence of Acute transverse myelitis and cause, if any. Laboratory tests are also essential for identifying the cause of SATM: analysis of the cerebrospinal fluid may reveal the presence of oligoclonal bands (commonly seen in MS) or bacterial/viral/parasitic infections; serology may reveal the presence of autoantibodies to aquaporin-4 (NMO), anti-double-stranded DNA antibodies (SLE) or anti-Ro/SS-A antibodies (Sjögren's syndrome).
## Differential diagnosis
The differential diagnosis includes acute transverse myelopathy associated with fistulae, trauma, acute compressive lesions (such as metastases and epidural abscess) and infarction of the spinal cord.
## Management and treatment
Treatment approaches depend on the presence of an associated disease. Acute treatment may include corticosteroids and plasma exchange in steroid-resistant patients. The benefit of intravenous immunoglobulins and cyclophosphamide remains to be established. Long-term care includes symptomatic management, rehabilitative therapy, and, in case of SATM, long-term maintenance treatment to prevent relapses or disease progression.
## Prognosis
The prognosis is variable, unpredictable and depends on the response to treatment. SATM is often relapsing and prognosis depends on prevention of further episodes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing 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 transverse myelitis
|
c0270627
| 7,116 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139417
| 2021-01-23T18:32:21 |
{"mesh": ["D009188"], "umls": ["C0270627"], "icd-10": ["G37.3"]}
|
Disorder caused due to injury to the spinal accessory nerve (11th cranial nerve or Cranial Nerve XI)
Accessory nerve disorder
Other namesSpinal accessory nerve palsy
Muscles innervated by the accessory nerve
SpecialtyNeurology
Accessory nerve disorder is an injury to the spinal accessory nerve which results in diminished or absent function of the sternocleidomastoid muscle and upper portion of the trapezius muscle.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Patients with spinal accessory nerve paralysis often exhibit signs of lower motor neuron disease such as diminished muscle mass, fasciculations, and partial paralysis of the sternocleidomastoid and trapezius muscles. Interruption of the nerve supply to the sternocleidomastoid muscle results in an asymmetric neckline, while weakness of the trapezius muscle can produce a drooping shoulder, winged scapula, and a weakness of forward elevation of the shoulder.[1]
## Causes[edit]
Medical procedures are the most common cause of injury to the spinal accessory nerve.[2] In particular, radical neck dissection and cervical lymph node biopsy are among the most common surgical procedures that result in spinal accessory nerve damage.[2] London notes that a failure to rapidly identify spinal accessory nerve damage may exacerbate the problem, as early intervention leads to improved outcomes.[2]
## Diagnosis[edit]
The function of the spinal accessory nerve is measured in the neurological examination. How the examination is administered varies by practitioner, but it frequently involves three components: inspection, range of motion testing, and strength testing.
During inspection, the examiner observes the sternocleidomastoid and trapezius muscles, looking for signs of lower motor neuron disease, such as muscle atrophy and fasciculation. A winged scapula may also be suggestive of abnormal spinal accessory nerve function, as described above.
In assessing range of motion, the examiner observes while the patient tilts and rotates the head, shrugs both shoulders, and abducts both arms. A winged scapula due to spinal accessory nerve damage will often be exaggerated on arm abduction.
Strength testing is similar to range of motion testing, except that the patient performs the actions against the examiner's resistance. The examiner measures sternocleidomastoid muscle function by asking the patient to turn his or her head against resistance. Simultaneously, the examiner observes the action of the contralateral sternocleidomastoid muscle. For example, if the patient turns his or her head to the right, the left sternocleidomastoid muscle normally will tighten.
To assess the strength of the trapezius muscle, the examiner asks the patient to shrug his or her shoulders against resistance. In patients with damage to the spinal accessory nerve, shoulder elevation will be diminished, and the patient will be incapable of raising the shoulders against the examiner's resistance.
## Treatment[edit]
There are several options of treatment when iatrogenic (i.e., caused by the surgeon) spinal accessory nerve damage is noted during surgery. For example, during a functional neck dissection that injures the spinal accessory nerve, injury prompts the surgeon to cautiously preserve branches of C2, C3, and C4 spinal nerves that provide supplemental innervation to the trapezius muscle.[3] Alternatively, or in addition to intraoperative procedures, postoperative procedures can also help in recovering the function of a damaged spinal accessory nerve. For example, the Eden-Lange procedure, in which remaining functional shoulder muscles are surgically repositioned, may be useful for treating trapezius muscle palsy.[4][5]
## References[edit]
1. ^ Wiater JM, Bigliani LU (1999). "Spinal accessory nerve injury". Clinical Orthopaedics & Related Research. 368 (1): 5–16. doi:10.1097/00003086-199911000-00003.
2. ^ a b c London J, London NJ, Kay SP (1996). "Iatrogenic accessory nerve injury". Annals of the Royal College of Surgeons of England. 78 (2): 146–50. PMC 2502542. PMID 8678450.
3. ^ Prim MP, De Diego JI, Verdaguer JM, Sastre N, Rabanal I (2006). "Neurological complications following functional neck dissection". European Archives of Oto-Rhino-Laryngology. 263 (5): 473–6. doi:10.1007/s00405-005-1028-9. PMID 16380807.
4. ^ Teboul F, Bizot P, Kakkar R, Sedel L (2005). "Surgical management of trapezius palsy". The Journal of Bone and Joint Surgery. American Volume. 87. Suppl 1 (Pt 2): 285–91. doi:10.2106/JBJS.E.00496. PMID 16140801.
5. ^ Romero J, Gerber C (2003). "Levator scapulae and rhomboid transfer for paralysis of trapezius. The Eden-Lange procedure". The Journal of Bone and Joint Surgery. British Volume. 85 (8): 1141–5. doi:10.1302/0301-620X.85B8.14179. PMID 14653596.
## External links[edit]
Classification
D
* ICD-10: G52.8, S04.7
* ICD-9-CM: 352.4
* MeSH: D020436
* DiseasesDB: 2859
* SNOMED CT: 84759007
* v
* t
* e
Diseases relating to the peripheral nervous system
Mononeuropathy
Arm
median nerve
* Carpal tunnel syndrome
* Ape hand deformity
ulnar nerve
* Ulnar nerve entrapment
* Froment's sign
* Ulnar tunnel syndrome
* Ulnar claw
radial nerve
* Radial neuropathy
* Wrist drop
* Cheiralgia paresthetica
long thoracic nerve
* Winged scapula
* Backpack palsy
Leg
lateral cutaneous nerve of thigh
* Meralgia paraesthetica
tibial nerve
* Tarsal tunnel syndrome
plantar nerve
* Morton's neuroma
superior gluteal nerve
* Trendelenburg's sign
sciatic nerve
* Piriformis syndrome
Cranial nerves
* See Template:Cranial nerve disease
Polyneuropathy and Polyradiculoneuropathy
HMSN
* Charcot–Marie–Tooth disease
* Dejerine–Sottas disease
* Refsum's disease
* Hereditary spastic paraplegia
* Hereditary neuropathy with liability to pressure palsy
* Familial amyloid neuropathy
Autoimmune and demyelinating disease
* Guillain–Barré syndrome
* Chronic inflammatory demyelinating polyneuropathy
Radiculopathy and plexopathy
* Brachial plexus injury
* Thoracic outlet syndrome
* Phantom limb
Other
* Alcoholic polyneuropathy
Other
General
* Complex regional pain syndrome
* Mononeuritis multiplex
* Peripheral neuropathy
* Neuralgia
* Nerve compression 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
|
Accessory nerve disorder
|
c0152180
| 7,117 |
wikipedia
|
https://en.wikipedia.org/wiki/Accessory_nerve_disorder
| 2021-01-18T18:43:01 |
{"mesh": ["D020436"], "umls": ["C0152180"], "icd-10": ["G52.8", "S04.7"], "wikidata": ["Q4672538"]}
|
Trichorrhexis nodosa
Other namesHair shaft fracture[1]
Tricho-hepato-enteric syndrome: Microscopic analysis of the hair shaft showing breaks located at nodes in the hair (trichorrhexis nodosa) and longitudinal breaks.
SpecialtyDermatology
Trichorrhexis nodosa is a defect in the hair shaft characterized by thickening or weak points (nodes) that cause the hair to break off easily.[2]:766[3]:636 This group of conditions contributes to the appearance of hair loss, lack of growth, and damaged-looking hair.
## Contents
* 1 Symptoms
* 1.1 Complications
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Prognosis
* 7 See also
* 8 Notes
* 9 References
* 10 External links
## Symptoms[edit]
Among the symptoms (and signs) for this condition are the following:
* lack of apparent hair growth
* hair appears patchy
* hair breaks easily close to scalp
* hair may have thickenings or nodes in the shaft
* ends of hair thinned or split
* whitish discoloration of hair tips
* hair breaks easily at tips
### Complications[edit]
This condition is not dangerous but may affect self-esteem.
## Causes[edit]
Trichorrhexis may have a genetic basis but appears to be precipitated by environmental factors. Among Caucasians the defect often appears at the ends of the hair shaft with splitting of the ends, thinning and whitish discoloration.
These conditions are directly related to environmental causes such as "perming", blow drying, aggressive hair brushing, and excessive chemical exposure.
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.
## Diagnosis[edit]
Examination of the hair shafts with a microscope may reveal changes of trichorrhexis nodosa.
## Prevention[edit]
Avoid aggressive brushing and grooming, strong chemicals, permanents, straightening, and similar hair-damaging habits.
## Treatment[edit]
Improving environmental factors will reduce damage to the hair. Gentle brushing with a soft brush should replace more aggressive brushing, ratting, or other procedures. Harsh chemicals such as hair straightening compounds and permanents should be avoided. The hair should not be ironed. Excessively harsh shampoo should be avoided. Hair conditioners should be used.[citation needed]
## Prognosis[edit]
This condition is self-limiting. Improvements in grooming techniques and in environmental conditions will correct the abnormality.
## See also[edit]
* Trichomegaly
* List of cutaneous conditions
## Notes[edit]
1. ^ "Trichorrhexis nodosa: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 27 April 2019.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
## References[edit]
* MedlinePlus Encyclopedia: Trichorrhexis nodosa
## External links[edit]
Classification
D
* ICD-10: L67.0
* ICD-9-CM: 704.2
* DiseasesDB: 29680
External resources
* MedlinePlus: 001449
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Trichorrhexis nodosa
|
c0263485
| 7,118 |
wikipedia
|
https://en.wikipedia.org/wiki/Trichorrhexis_nodosa
| 2021-01-18T18:36:25 |
{"umls": ["C0263485"], "icd-9": ["704.2"], "icd-10": ["L67.0"], "wikidata": ["Q7840966"]}
|
Penile discharge
This male presented with a purulent penile discharge due to gonorrhea with an overlying penile pyodermal lesion. Pyoderma involves the formation of a purulent skin lesion, in this case located on the glans penis, and overlying the sexually transmitted disease gonorrhea.[1]
SymptomsFluid from penis
CausesInfections including gonorrhea, chlamydia, trichomoniasis
Penile discharge is fluid that comes from the urethra at the end of the penis that is not urine or semen.[2][3]
Common causes include infections due to gonorrhea, chlamydia, or trichomoniasis.[3] In gonorrhea the discharge may be white, yellow, or green.[4][5]
A swab of the discharge is usually performed.[5]
Treatment depends on the cause. Spread of infection is reduced by also treating sexual contacts.[6]
Risk factors include being sexually active men under the age of 25, having a recent new sexual partner, or having unprotected sex.[6]
## Contents
* 1 Definition and clinical features
* 2 Causes
* 3 Evaluation
* 4 Treatment
* 5 Epidemiology
* 6 References
## Definition and clinical features[edit]
Play media
This male presented discharge commonly found in an early stage of gonorrhea. This is one of the possible symptoms seen in up 90% of males with gonorrhea, usually within 2 to 5 days [4]
Penile discharge is liquid from the urethra at the end of the penis that is not urine or semen.[2] The dripping of clear fluid when sexually excited is normal.[2]
There may be pain or burning when passing urine, soreness inside the penis or feeling of wanting to pass urine frequently.[6]
## Causes[edit]
Common causes include infections due to gonorrhea, chlamydia, or trichomoniasis.[3]
Other causes include:
* Non-specific urethritis[2]
* Acute prostatitis[2]
* Infection under the foreskin[2]
* Warts at the opening of the urethra[2]
* Herpes simplex virus ulcer at the opening of the urethra[2]
* Object in the urethra[2] or recent surgical procedure.[5]
* A bloody discharge may be a sign of urethral cancer.[5]
## Evaluation[edit]
A swab of the discharge is usually performed.[5] Other investigations may include tests for HIV, hepatitis and syphilis.[6]
Men who have sex with men may also need to have throat and rectal swabs.[6]
## Treatment[edit]
Treatment depends on the cause and any antibiotic prescribed depends on which infection is found.[6] Spread of infection is reduced by informing sexual partners so that they can also be treated, and not having sex (including oral or anal) until tests are completed and seven days have passed after treatment.[6]
## Epidemiology[edit]
Risk factors include being sexually active men under the age of 25, having a recent new sexual partner, unprotected sex (without a condom), or having the presence of any sexually transmitted infection.[6]
## References[edit]
1. ^ "Details - Public Health Image Library(PHIL)". phil.cdc.gov. Retrieved 27 December 2020.
2. ^ a b c d e f g h i "Penis Discharge". conditions.health.qld.gov.au. Queensland Government. 2017. Retrieved 27 December 2020.
3. ^ a b c Dains, Joyce E.; Baumann, Linda Ciofu; Scheibel, Pamela (2018). "27. Penile Discharge". Advanced Health Assessment & Clinical Diagnosis in Primary Care E-Book (6th ed.). Elsevier Health Sciences. p. 372. ISBN 978-0-323-59454-7.
4. ^ a b "Gonorrhea - CDC Fact Sheet". cdc.gov. Retrieved 6 December 2014.
5. ^ a b c d e Kahan, Scott; Miller, Redonda; Smith, Ellen G. (2008). "126. Penile Discharge". Signs and Symptoms. Lippincott Williams & Wilkins. ISBN 978-0-7817-7043-9.
6. ^ a b c d e f g h "Urethritis and Urethral Discharge in Men". patient.info. Retrieved 6 December 2014.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Penile discharge
|
c0232861
| 7,119 |
wikipedia
|
https://en.wikipedia.org/wiki/Penile_discharge
| 2021-01-18T18:41:15 |
{"umls": ["C0232861"], "icd-10": ["R36"], "wikidata": ["Q5803863"]}
|
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia).
In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.
## Frequency
Leydig cell hypoplasia is a rare disorder; its prevalence is unknown.
## Causes
Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.
The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovary (ovulation). Chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.
The LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia, and mutations that allow some receptor protein function cause milder signs and symptoms.
### Learn more about the gene associated with Leydig cell hypoplasia
* LHCGR
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Leydig cell hypoplasia
|
c2673497
| 7,120 |
medlineplus
|
https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/
| 2021-01-27T08:25:14 |
{"gard": ["3244"], "mesh": ["C562567"], "omim": ["238320"], "synonyms": []}
|
Functional gastrointestinal disorder
Other namesDisorders of gut–brain interaction
SpecialtyGastroenterology
Functional gastrointestinal disorders (FGID), also known as disorders of gut–brain interaction, include a number of separate idiopathic disorders which affect different parts of the gastrointestinal tract and involve visceral hypersensitivity and motility disturbances.[1]
## Contents
* 1 Classification
* 2 Epidemiology
* 3 Research
* 4 See also
* 5 References
* 6 External links
## Classification[edit]
Terms such as functional colonic disease (or functional bowel disorder) refer in medicine to a group of bowel disorders which are characterised by chronic abdominal complaints without a structural or biochemical cause that could explain symptoms. Other functional disorders relate to other aspects of the process of digestion.
The consensus review process of meetings and publications organised by the Rome Foundation, known as the Rome process, has helped to define the functional gastrointestinal disorders.[2] Successively, the Rome I, Rome II, Rome III and Rome IV proposed consensual classification system and terminology, as recommended by the Rome Coordinating Committee. These now include classifications appropriate for adults, children and neonates/toddlers.
The current Rome IV classification, published in 2016, is as follows:[1]
A. Esophageal disorders
* A1. Functional chest pain
* A2. Functional heartburn
* A3. Reflux hypersensitivity
* A4. Globus
* A5. Functional dysphagia
B. Gastroduodenal disorders
* B1. Functional dyspepsia
* B1a. Postprandial distress syndrome (PDS)
* B1b. Epigastric pain syndrome (EPS)
* B2. Belching disorders
* B2a. Excessive supragastric belching
* B2b. Excessive gastric belching
* B3. Nausea and vomiting disorders
* B3a. Chronic nausea vomiting syndrome (CNVS)
* B3b. Cyclic vomiting syndrome (CVS)
* B3c. Cannabinoid hyperemesis syndrome (CHS)
* B4. Rumination syndrome
C. Bowel disorders
* C1. Irritable bowel syndrome (IBS)
* IBS with predominant constipation (IBS-C)
* IBS with predominant diarrhea (IBS-D)
* IBS with mixed bowel habits (IBS-M)
* IBS unclassified (IBS-U)
* C2. Functional constipation
* C3. Functional diarrhea
* C4. Functional abdominal bloating/distension
* C5. Unspecified functional bowel disorder
* C6. Opioid-induced constipation
D. Centrally mediated disorders of gastrointestinal pain
* D1. Centrally mediated abdominal pain syndrome (CAPS)
* D2. Narcotic bowel syndrome (NBS)/ Opioid-induced GI hyperalgesia
E. Gallbladder and sphincter of Oddi disorders
* E1. Biliary pain
* E1a. Functional gallbladder disorder
* E1b. Functional biliary sphincter of Oddi disorder
* E2. Functional pancreatic sphincter of Oddi disorder
F. Anorectal disorders
* F1. Fecal incontinence
* F2. Functional anorectal pain
* F2a. Levator ani syndrome
* F2b. Unspecified functional anorectal pain
* F2c. Proctalgia fugax
* F3. Functional defecation disorders
* F3a. Inadequate defecatory propulsion
* F3b. Dyssynergic defecation
G. Childhood functional GI disorders: Neonate/Toddler
* G1. Infant regurgitation
* G2. Rumination syndrome
* G3. Cyclic vomiting syndrome (CVS)
* G4. Infant colic
* G5. Functional diarrhea
* G6. Infant dyschezia
* G7. Functional constipation
H. Childhood functional GI disorders: Child/Adolescent
* H1. Functional nausea and vomiting disorders
* H1a. Cyclic vomiting syndrome (CVS)
* H1b. Functional nausea and functional vomiting
* H1b1. Functional nausea
* H1b2. Functional vomiting
* H1c. Rumination syndrome
* H1d. Aerophagia
* H2. Functional abdominal pain disorders
* H2a. Functional dyspepsia
* H2a1. Postprandial distress syndrome
* H2a2. Epigastric pain syndrome
* H2b. Irritable bowel syndrome (IBS)
* H2c. Abdominal migraine
* H2d. Functional abdominal pain ‒ NOS
* H3. Functional defecation disorders
* H3a. Functional constipation
* H3b. Nonretentive fecal incontinence
## Epidemiology[edit]
Functional gastrointestinal disorders are very common. Globally, irritable bowel syndrome and functional dyspepsia alone may affect 16–26% of the population.[1][3]
## Research[edit]
There is considerable research into the causes, diagnosis and treatments for FGIDs. Diet, microbiome, genetics, neuromuscular function and immunological response all interact.[1] A role for mast cell activation has been proposed as one of the factors.[4][5]
## See also[edit]
* Allergy
* Food intolerance
* Histamine intolerance
## References[edit]
1. ^ a b c d Drossman DA (2016). "Functional Gastrointestinal Disorders: History, Pathophysiology, Clinical Features and Rome IV". Gastroenterology. 150 (6): 1262–1279. doi:10.1053/j.gastro.2016.02.032. PMID 27144617. S2CID 6441439.
2. ^ "Rome Foundation // Scoring Rome III Questionnaire using SAS".
3. ^ Sperber AD, Drossman DA, Quigley EM (2012). "The global perspective on irritable bowel syndrome: a Rome Foundation-World Gastroenterology Organisation symposium". Am. J. Gastroenterol. 107 (11): 1602–9. doi:10.1038/ajg.2012.106. PMID 23160283. S2CID 34208367.
4. ^ Wouters MM, Vicario M, Santos J (2015). "The role of mast cells in functional GI disorders". Gut. 65 (1): 155–168. doi:10.1136/gutjnl-2015-309151. PMID 26194403. "It is well established that mast cell activation can generate epithelial and neuro-muscular dysfunction and promote visceral hypersensitivity and altered motility patterns in FGIDs, postoperative ileus, food allergy and inflammatory bowel disease."
5. ^ Bashashati, M; Moossavi, S; Cremon, C; Barbaro, MR; Moraveji, S; Talmon, G; Rezaei, N; Hughes, PA; Bian, ZX; Choi, CH; Lee, OY; Coëffier, M; Chang, L; Ohman, L; Schmulson, MJ; McCallum, RW; Simren, M; Sharkey, KA; Barbara, G (January 2018). "Colonic immune cells in irritable bowel syndrome: A systematic review and meta-analysis". Neurogastroenterology & Motility. 30 (1): e13192. doi:10.1111/nmo.13192. PMID 28851005. S2CID 33807711. "Mast cells and CD3+ T cells are increased in colonic biopsies of patients with IBS vs non-inflamed controls"
## External links[edit]
Classification
D
* MeSH: D003109
* v
* t
* e
Drugs for functional gastrointestinal disorders (A03)
Drugs for
functional
bowel disorders
Antimuscarinics
Tertiary
amino group
* Oxyphencyclimine
* Camylofin
* Mebeverine
* Trimebutine
* Rociverine
* Dicycloverine
* Dihexyverine
* Difemerine
* Piperidolate
Quaternary
ammonium
compounds
* Benzilone
* Mepenzolate
* Pipenzolate
* Glycopyrronium
* Oxyphenonium
* Penthienate
* Methantheline
* Propantheline
* Otilonium
* Tridihexethyl
* Isopropamide
* Hexocyclium
* Poldine
* Bevonium
* Diphemanil
* Tiemonium
* Prifinium
* Timepidium
* Fenpiverinium
Phosphodiesterase
inhibitors
* Papaverine
* Drotaverine
* Moxaverine
Acting on
serotonin receptors
* 5-HT3 antagonists
* Alosetron
* Cilansetron
* 5-HT4 agonists
* Mosapride
Other
* Alverine
* Caroverine
* Chlorbenzoxamine
* Diisopromine
* Dimethylaminopropionylphenothiazine
* Fenpiprane
* Fenoverine
* Idanpramine
* Isometheptene
* Mentha piperita
* Phloroglucinol
* Pinaverium bromide
* Proxazole
* Silicones
* Tiropramide
* Trepibutone
* Trimethyldiphenylpropylamine
Belladonna
and derivatives
(antimuscarinics)
* Tertiary amines: Atropine
* Hyoscyamine
* Quaternary ammonium compounds:
* Scopolamine
* Butylscopolamine
* Methylscopolamine
* Methylatropine
* Fentonium bromide
* Cimetropium bromide
Propulsives
* Primarily dopamine antagonists
* Metoclopramide/Bromopride
* Clebopride
* Domperidone
* Alizapride
* 5-HT4 agonists
* Cinitapride
* Cisapride
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Functional gastrointestinal disorder
|
c0017178
| 7,121 |
wikipedia
|
https://en.wikipedia.org/wiki/Functional_gastrointestinal_disorder
| 2021-01-18T19:04:03 |
{"mesh": ["D005767"], "wikidata": ["Q5508825"]}
|
Uterine adenosarcoma
Other namesAdenosarcoma of the uterus, Müllerian adenosarcoma of the uterus
Micrograph of a uterine adenosarcoma showing a mitotically active malignant stroma and benign glands. H&E stain.
SpecialtyGynecology
Uterine adenosarcoma is an uncommon form of cancer that arises from mesenchymal tissue of the uterus and has a benign glandular component.
## Contents
* 1 Signs and symptoms
* 2 Pathology
* 3 Treatment
* 4 Prognosis
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
The most common presentation is vaginal bleeding.[1] Other presentations include pelvic mass and uterine polyp. Generally, the clinical findings are non-specific.
## Pathology[edit]
Uterine adenosarcoma have, by definition, a malignant stroma and benign glandular elements. The World Health Organization (WHO) criteria have a mitotic rate cut point; however, this is often disregarded, as bland-appearing tumours with a low mitotic rate are known to metastasize occasionally.[2]
* Low mag.
* Intermed. mag.
* Very high mag.
## Treatment[edit]
Uterine adenosarcomas are typically treated with a total abdominal hysterectomy and bilateral salpingoophorectomy (TAH-BSO). Ovary sparing surgery may be done in women wishing to preserve fertility.[3]
## Prognosis[edit]
The prognosis is determined primarily by the cancer stage. Most tumours are discovered at an early stage and have a good prognosis, especially when compared to uterine carcinosarcoma. Five year survival for stage I and stage III tumours is approximately 80% and 50% respectively.[4]
## See also[edit]
* Carcinosarcoma
* Sarcoma
## References[edit]
1. ^ Verschraegen, CF.; Vasuratna, A.; Edwards, C.; Freedman, R.; Kudelka, AP.; Tornos, C.; Kavanagh, JJ. (1998). "Clinicopathologic analysis of mullerian adenosarcoma: the M.D. Anderson Cancer Center experience". Oncol Rep. 5 (4): 939–44. doi:10.3892/or.5.4.939. PMID 9625851.
2. ^ McCluggage, WG. (Mar 2010). "Mullerian adenosarcoma of the female genital tract". Adv Anat Pathol. 17 (2): 122–9. doi:10.1097/PAP.0b013e3181cfe732. PMID 20179434. S2CID 196403103.
3. ^ Adedipe, TO.; Vine, SJ. (2010). "Mullerian adenosarcoma of the uterus: a rare neoplasm with a need for onco-fertility". Eur J Gynaecol Oncol. 31 (6): 714–6. PMID 21319526.
4. ^ Arend, R.; Bagaria, M.; Lewin, SN.; Sun, X.; Deutsch, I.; Burke, WM.; Herzog, TJ.; Wright, JD. (Nov 2010). "Long-term outcome and natural history of uterine adenosarcomas". Gynecol Oncol. 119 (2): 305–8. doi:10.1016/j.ygyno.2010.07.001. PMID 20688363.
## 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
|
Uterine adenosarcoma
|
c2103110
| 7,122 |
wikipedia
|
https://en.wikipedia.org/wiki/Uterine_adenosarcoma
| 2021-01-18T18:55:46 |
{"gard": ["9636"], "mesh": ["C538232"], "umls": ["C2103110"], "wikidata": ["Q7902645"]}
|
Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) which leads to adrenal insufficiency. They also tend to have red hair and pale skin. POMC deficiency is caused by mutations in the POMC gene. The condition is inherited in an autosomal recessive pattern. Adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Proopiomelanocortin deficiency
|
c1857854
| 7,123 |
gard
|
https://rarediseases.info.nih.gov/diseases/10823/proopiomelanocortin-deficiency
| 2021-01-18T17:58:07 |
{"mesh": ["C565726"], "omim": ["609734"], "orphanet": ["71526"], "synonyms": ["Obesity, early-onset, adrenal insufficiency, and red hair", "POMC deficiency", "Obesity due to pro-opiomelanocortin deficiency"]}
|
A number sign (#) is used with this entry because of evidence that hyperphosphatemic familial tumoral calcinosis-3 (HFTC3) is caused by homozygous mutation in the KL gene (604824) on chromosome 13q13. One such patient has been reported.
Description
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.
HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.
Clinical Features
Ichikawa et al. (2007) reported a 13-year-old girl with tumoral calcinosis due to a homozygous mutation in the KL gene. She developed mild swelling of the malleolus and thenar eminence without erythema or warmth. Laboratory studies showed increased serum phosphorus, active vitamin D, and FGF23. Radiographs showed osteopenia, patchy sclerosis in the hands, feet, long bones, and calvaria, intracranial calcifications, and calcifications of the dura and carotid arteries. On presentation, she also had increased serum calcium and parathyroid hormone, which was successfully treated by subtotal parathyroidectomy of hyperplastic glands. Biochemical studies showed inappropriate tubular reabsorption of phosphorus and defective FGF23 signaling due to the mutant KL protein.
Molecular Genetics
Ichikawa et al. (2007) reported a 13-year-old girl with tumoral calcinosis due to a homozygous missense mutation (H193R; 604824.0002) in the KL gene (604824.0002).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
|
c4693864
| 7,124 |
omim
|
https://www.omim.org/entry/617994
| 2019-09-22T15:44:06 |
{"omim": ["617994", "211900"], "orphanet": ["306661"], "synonyms": ["Hypercalcemic tumoral calcinosis"]}
|
Bladder cancer in cats and dogs usually is transitional cell carcinoma,[1] which arises from the epithelial cells that line the bladder. Less often, cancer of the urinary bladder is squamous cell carcinoma, adenocarcinoma, or rhabdomyosarcoma.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 References
## Signs and symptoms[edit]
The most frequent symptoms of transitional cell carcinoma are blood in the urine, painful urination, frequent urination and/or straining to urinate.[1] This can look very similar to an infection of the urinary system.[1]
## Diagnosis[edit]
Diagnostic tests typically include complete blood tests, urinalysis, urine culture, X-rays of the abdomen and chest, and bladder imaging. The definitive diagnosis of bladder cancer will require a tissue biopsy and subsequent examination of the cells under the microscope.[2]
## Treatment[edit]
Because most bladder cancers are invasive into the bladder wall, surgical removal is usually not possible. The majority of transitional cell carcinomas are treated with either traditional chemotherapy or nonsteroidal anti-inflammatory drugs.
## Epidemiology[edit]
Compared to other breeds of dog, Scottish terriers have a much increased risk of developing transitional cell carcinoma.[3]
## References[edit]
1. ^ a b c Lipscomb, Victoria J. (2011). "Section XI Urogenital system. Chapter 116 Bladder. Bladder neoplasia". In Tobias, Karen M.; Johnston, Spencer A. (eds.). Veterinary Surgery. London: Elsevier Health Sciences. pp. 1990–1992. ISBN 9780323263375.
2. ^ Withrow SJ, MacEwen EG, eds. (2001). Small Animal Clinical Oncology (3rd ed.). W.B. Saunders Company.
3. ^ Acierno, Mark J. (2016). "Chapter 12 Nephrology/urology. Tumours of the lower urinary tract". In Schaer, Michael; Gaschen, F (eds.). Clinical medicine of the dog and cat (3rd ed.). CRC Press. pp. 501–503. ISBN 978-1-4822-2607-2.
*[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
|
Bladder cancer in cats and dogs
|
None
| 7,125 |
wikipedia
|
https://en.wikipedia.org/wiki/Bladder_cancer_in_cats_and_dogs
| 2021-01-18T18:53:22 |
{"wikidata": ["Q4923664"]}
|
Familial British dementia
SpecialtyPsychiatry
Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought in 1933 [1] and is therefore also known as Worster-Drought syndrome. It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of the same gene causes the similar syndrome of familial Danish dementia. The combination of amyloid pathology and neurofibrillary tangles has led to comparison with the pathology of Alzheimer's disease.[2]
## References[edit]
1. ^ C Worster-Drought; Hill, TR; McMenemey, WH; et al. (1933). "Familial Presenile Dementia with Spastic Paralysis". J Neurol Psychopathol. s1-14 (53): 27–34. doi:10.1136/jnnp.s1-14.53.27. PMC 1038860. PMID 21610757.
2. ^ J Ghiso; Révész, T; Holton, J; Rostagno, A; Lashley, T; Houlden, H; Gibb, G; Anderton, B; et al. (2001). "Chromosome 13 dementia syndromes as models of neurodegeneration". Amyloid. 8 (4): 277–84. doi:10.3109/13506120108993826. PMID 11791622.
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This medical diagnostic 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
|
Familial British dementia
|
c1867773
| 7,126 |
wikipedia
|
https://en.wikipedia.org/wiki/Familial_British_dementia
| 2021-01-18T18:40:10 |
{"gard": ["8344"], "mesh": ["C538208"], "orphanet": ["97345"], "wikidata": ["Q5432926"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is caused by homozygous mutation in the TBC1D7 gene (612655) on chromosome 6p24.
Description
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Clinical Features
Walsh (1957) described 3 affected sibs with normal parents. At least 2 of the 3 were female. Mental defect and optic atrophy were present. In another family 2 sibs may have been affected.
Capo-Chichi et al. (2013) reported a brother and sister, born of consanguineous parents of North African descent, with megalencephaly (greater than 97th percentile) and intellectual disability. Both patients had a normal neonatal course, but showed delayed psychomotor development and cognitive impairment. The sibs were not dysmorphic, but had a broad forehead; the head of 1 child was scaphocephalic. Brain MRI showed normal ventricle and subarachnoid spaces, as well as a slightly enlarged corpus callosum, indicating that the macrocrania is secondary to an increase in brain volume and not due to hydrocephalus. Neither had overt seizures, but EEG in 1 patient showed some epileptic activity in the right temporal lobe. Neither had evidence of cortical tubers.
Alfaiz et al. (2014) reported 2 sisters, born of Italian parents from 2 distant villages, with macrocephaly and intellectual disability. They showed mildly delayed psychomotor development and had severe learning disabilities in school. Dysmorphic features included scaphocephaly/dolichocephaly, prognathism, and pointed chin. Both developed celiac disease and renal oxalate stones in childhood, and depression with psychosis as young adults. Additional features included myopia, astigmatism, and bilateral and patellar dislocation with flat trochlea. Brain MRI of 1 patient showed cerebral calcifications, whereas brain imaging of the other patient was normal. Neither had seizures or evidence of tuberous sclerosis.
Inheritance
De Almeida and Debarros (1964) observed parental consanguinity in cases of megalencephaly.
The transmission pattern of megalencephaly in the family reported by Capo-Chichi et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of consanguineous parents, with megalencephaly and intellectual disability, Capo-Chichi et al. (2013) identified a homozygous truncating mutation in the TBC1D7 gene (612655.0001). The mutation was found by homozygosity mapping combined with exome sequencing. Patient cells showed no TBC1D7 mRNA or protein, consistent with nonsense-mediated mRNA decay. Patient cells showed constitutive activation of the mTORC1 complex (see 601231) compared to controls, consistent with TBC1D7 playing the role of an upstream regulator of mTORC1.
In 2 Italian sisters with macrocephaly and intellectual disability, Alfaiz et al. (2014) identified a homozygous truncating mutation in the TBC1D7 gene (612655.0002). The mutation was found by exome sequencing. Patient cells showed no detectable TBC1D7 protein on Western blot analysis, suggesting a loss of function. Loss of the TBC1D7 protein was associated with activation of mTORC1, and cellular studies showed a delay in initiation of the autophagy process.
History
Weil (1933) described the case of a male in which at autopsy the brain (at age 7 years) weighed 1,856 gm. The precentral area was underdeveloped, as were skeletal musculature and the adrenal medullae. Mental development had been normal until age 6. A brother had a large head but was well at age 12 years.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Macrocephaly \- Enlarged head circumference (97th percentile) \- Scaphocephaly Face \- Broad forehead \- Pointed chin \- Prognathism Eyes \- Myopia (1 family) \- Astigmatism (1 family) SKELETAL Limbs \- Patellar subluxation (1 family) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Speech delay \- Megalencephaly \- Enlarged corpus callosum \- No hydrocephalus Behavioral Psychiatric Manifestations \- Depression (1 family) \- Psychosis (1 family) MISCELLANEOUS \- Two unrelated families, one North African descent and one of Italian descent, have been reported (last curated August 2014) MOLECULAR BASIS \- Caused by mutation in the TBC1 domain family, member 7 gene (TBC1D7, 612655.0001 ) ▲ 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
|
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
|
c0221355
| 7,127 |
omim
|
https://www.omim.org/entry/248000
| 2019-09-22T16:25:44 |
{"mesh": ["D058627"], "omim": ["248000"], "orphanet": ["2477"]}
|
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
X-linked intellectual disability-acromegaly-hyperactivity syndrome
|
None
| 7,128 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85327
| 2021-01-23T19:11:45 |
{"icd-10": ["Q87.8"]}
|
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
## Epidemiology
Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family.
## Clinical description
In the affected males the syndrome was characterised by a coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit.
## Etiology
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
## Genetic counseling
The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Carpenter-Waziri syndrome
|
c0796003
| 7,129 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93973
| 2021-01-23T18:46:19 |
{"mesh": ["C537457"], "omim": ["309580"]}
|
Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract. The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases (90%) of intraocular melanoma develop in the choroid, called choroidal melanoma; the ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms. Treatment depends on the site of origin (choroid, ciliary body, or iris), size and location of the tumor, the age of the individual, and other factors.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Intraocular melanoma
|
c0220633
| 7,130 |
gard
|
https://rarediseases.info.nih.gov/diseases/8621/intraocular-melanoma
| 2021-01-18T17:59:44 |
{"mesh": ["C536494"], "omim": ["155720"], "umls": ["C0220633"], "orphanet": ["39044"], "synonyms": ["Melanoma of the Uvea", "Uveal melanoma"]}
|
See TIM10 (602251) and Koehler et al. (1998).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF
|
c1865698
| 7,131 |
omim
|
https://www.omim.org/entry/602252
| 2019-09-22T16:13:52 |
{"omim": ["602252"]}
|
A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal 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
|
Renal hypoplasia, bilateral
|
c0431692
| 7,132 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97362
| 2021-01-23T17:15:51 |
{"umls": ["C0431692"], "icd-10": ["Q60.4"]}
|
Hereditary disease characterized by involuntary painful muscle contractions resulting in uncontrollable distortions
Torsion dystonia
Other namesDystonia musculorum deformans
SpecialtyNeurology
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state.
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Prevalence
* 5 Research
* 6 References
* 7 Further reading
* 8 External links
## Causes[edit]
The disease is caused by a genetic disorder which results in a defect in a protein called Torsin A.[1] A mutation in the DYT1 gene causes the loss of an amino acid, glutamic acid, in the Torsin A protein. Torsin A is an evolutionarily conserved AAA+ ATPase. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent, but can occur sporadically.[2] The disease is caused by a dominant allele, meaning that the person affected needs only one copy of the mutated DYT1 gene to have symptoms.[3] However, only 30 to 40 percent of those that do have the gene actually have symptoms, leading researchers to believe that there are other factors involved.[4]
## Diagnosis[edit]
### Classification[edit]
There are several types of torsion dystonia that affect different areas of the body. However, it is unknown if the gene that causes Early Onset Torsion Dystonia is responsible for the other dystonias as well.
* Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. It can create problems by the characteristic turning of the head and neck from side to side.
* Blepharospasm: This type of dystonia causes involuntary contraction of the eyelids. The main concern for this dystonia is that it can cause the eyelids to close involuntarily and for indefinite periods of time.
* Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. It can make eating and swallowing very complicated due to the jaw being held open or shut for periods of time.
* Spasmodic dysphonia: A dystonia of the vocal cords. The complications surrounding this form of dystonia are speech related and can cause symptoms such as speech that wavers, speech that sounds like a whisper, or speech that is hesitant.
* Writer's cramp (occupational dystonia): A dystonia that affects the muscles of the hand and forearm. It is triggered by attempting to write or execute other fine-motor hand functions.
* Orofacial-Buccal dystonia (Meige's or Brueghal's Syndrome): A combination of blepharospasm and oromandibular dystonia.
* Early-onset torsion dystonia: The most severe type of dystonia, it begins in an arm or leg and progresses to the rest of the body until the person — in most cases, a child — is confined to a wheel chair.
## Treatment[edit]
There is no cure for torsion dystonia. However, there are several medical approaches that can be taken in order to lessen the symptoms of the disease. The treatment must be patient specific, taking into consideration all of the previous and current health complications. The doctor that creates the treatment must have intimate knowledge of the patients’ health and create a treatment plan that covers all of the symptoms focusing on the most chronic areas.
The first step for most with the disorder begins with some form of physical therapy in order for the patient to gain more control over the affected areas. The therapy can help patients with their posture and gain control over the areas of their body that they have the most problems with.
The second step in the treatment process is medication. The medications focus on the chemicals released by neurotransmitters in the nervous system, which control muscle movement. The medications on the market today are anticholinergics, benzodiazepines, baclofen, dopaminergic agents/dopamine-depleting agents, and tetrabenazine.[5] Each medication is started on a low dosage and gradually increased to higher doses as the disease progresses and the side effects are known for the individual.
A more site-specific treatment is the injection of botulinum toxin. It is injected directly into the muscle and works much the same way the oral medications do—by blocking neurotransmitters. The injections are not a treatment for the disease, but are a means to control its symptoms.[6] A fourth option in the treatment for the symptoms of torsion dystonia is surgery. Surgery is performed only if the patient does not respond to the oral medications or the injections. The type of surgery performed is specific to the type of dystonia that the patient has[citation needed]. A systematic review found that some patients benefit from deep brain stimulation (DBS) surgery, but the studies may have been subject to financial bias.[7]
## Prevalence[edit]
The disease is more commonly found amongst Ashkenazi Jews. The occurrence of torsion dystonia in the Ashkenazi Jewish population as stated by the Department of Epidemiology and Public Health of Yale University School of Medicine in New Haven, Connecticut; "Reports dating to the beginning of this century describe Ashkenazi Jewish (AJ) families with multiple cases of ITD either in siblings (Schwalbe 1908; Bernstein 1912; Abrahamson 1920) or in parents and offspring (Wechsler and Brock 1922; Mankowsky and Czerny 1929; Regensberg 1930). The first comprehensive evaluation of the mode of inheritance of ITD in Jewish and non-Jewish families was described by Zeman and Dyken (1967), who concluded that the disorder was inherited as an autosomal dominant with incomplete penetrance in both populations. Although they concluded that the gene frequency was higher in the AJ population than in non-Jews, no difference in mode of inheritance or disease mechanism was construed."[citation needed]
## Research[edit]
A 1969 study of torsion dystonia patients found an average IQ 10 points higher than controls matched for age, sex and ethnic background.[8]
## References[edit]
1. ^ Ozelius, L. J.; Hewett, J. W.; Page, C. E.; Bressman, S. B.; Kramer, P. L.; Shalish, C; De Leon, D; Brin, M. F.; Raymond, D; Corey, D. P.; Fahn, S; Risch, N. J.; Buckler, A. J.; Gusella, J. F.; Breakefield, X. O. (1997). "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein". Nature Genetics. 17 (1): 40–8. doi:10.1038/ng0997-40. PMID 9288096.
2. ^ Hjermind, L. E.; Werdelin, L. M.; Sørensen, S. A. (2002). "Inherited and de novo mutations in sporadic cases of DYT1-dystonia". European Journal of Human Genetics. 10 (3): 213–6. doi:10.1038/sj.ejhg.5200782. PMID 11973627.
3. ^ Risch, N. J.; Bressman, S. B.; Deleon, D; Brin, M. F.; Burke, R. E.; Greene, P. E.; Shale, H; Claus, E. B.; Cupples, L. A.; Fahn, S (1990). "Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance". American Journal of Human Genetics. 46 (3): 533–8. PMC 1683634. PMID 2309703.
4. ^ NIH GHR
5. ^ Cloud, L. J.; Jinnah, H. A. (2010). "Treatment strategies for dystonia". Expert Opinion on Pharmacotherapy. 11 (1): 5–15. doi:10.1517/14656560903426171. PMC 3495548. PMID 20001425.
6. ^ Delnooz, C. C.; Van De Warrenburg, B. P. (2012). "Current and future medical treatment in primary dystonia". Therapeutic Advances in Neurological Disorders. 5 (4): 221–40. doi:10.1177/1756285612447261. PMC 3388529. PMID 22783371.
7. ^ Rodrigues, Filipe B; Duarte, Gonçalo S; Prescott, David; Ferreira, Joaquim; Costa, João (2019). "Deep brain stimulation for dystonia". Cochrane Database of Systematic Reviews. doi:10.1002/14651858.CD012405.pub2. ISSN 1465-1858. PMC 6353249.
8. ^ Eldridge, R.; Harlan, A.; Cooper, I.; Riklan, M. (1970). "Superior Intelligence in Recessively Inherited Torsion Dystonia". The Lancet. 295 (7637): 65–67. doi:10.1016/S0140-6736(70)91848-9. PMID 4188627.
## Further reading[edit]
* https://web.archive.org/web/20060903085219/http://www.biochem.arizona.edu/classes/bioc461/Biochem499/AngelaPulsifer/dystonia1.htm
* Risch, N. J.; Bressman, S. B.; Deleon, D; Brin, M. F.; Burke, R. E.; Greene, P. E.; Shale, H; Claus, E. B.; Cupples, L. A.; Fahn, S (1990). "Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance". American Journal of Human Genetics. 46 (3): 533–8. PMC 1683634. PMID 2309703.
## External links[edit]
Classification
D
* ICD-10: G24.1
* ICD-9-CM: 333.6
* OMIM: 128100
* MeSH: D004422
* DiseasesDB: 29464
External resources
* eMedicine: neuro/165
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
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* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
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* UMN only:
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* LMN only:
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* SMALED1
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* both:
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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
|
Torsion dystonia
|
c0013423
| 7,133 |
wikipedia
|
https://en.wikipedia.org/wiki/Torsion_dystonia
| 2021-01-18T19:06:06 |
{"mesh": ["D004422"], "icd-9": ["333.6"], "icd-10": ["G24.1"], "wikidata": ["Q656199"]}
|
Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Primary systemic amyloidosis
|
c0268381
| 7,134 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314701
| 2021-01-23T16:56:30 |
{"mesh": ["D000075363"], "omim": ["254500"], "icd-10": ["E85.0", "E85.1", "E85.2", "E85.3"], "synonyms": ["Systemic AL amyloidosis"]}
|
## Clinical Features
Felman (1969) described a black father and his son and daughter with epiphyseal and vertebral dysplasia producing severe scoliosis and truncal shortening as well as complete destruction of the femoral capital epiphyses and necks. The hands and feet were short and stubby. Clinically and radiologically the patients were normal at birth.
Rubin (1964) presented (Figs. 7.9-7.14) an instructive family in which platyspondyly accompanied changes in the epiphyses in the limbs.
The family reported by Moldauer et al. (1962) had 7 affected persons in 3 generations with no male-to-male transmission. There may be more than one dominant form of spondyloepiphyseal dysplasia distinct from the pseudoachondroplastic types. It is clear, however, that there is at least one form. These cases have too much platyspondyly for the condition to be multiple epiphyseal dysplasia and the involvement of the bones of the limbs is not severe enough to fall into one of the pseudoachondroplasia groups.
Barber et al. (1984) reported a family that came to attention through a 54-year-old woman admitted to hospital for her second total hip joint replacement. In 5 sibships of 3 generations a skeletal dysplasia thought to represent autosomal dominant SED tarda was found. The mean height of affected and unaffected persons was the same: 164 cm; however, all affected persons had shorter trunk and longer legs than unaffected persons (mean upper-to-lower-segment ratio 0.83 against 0.95 in the unaffected). All affected persons had bilateral hip pain, and pain and stiffness in the back, knees, shoulders, and elbows also figured prominently. Symptoms began at an age ranging from 2 to 20 years; stiff gait usually preceded pain. Perthes disease, bilateral congenital dislocation of the hip, traumatic synovitis of the right hip and knees, and bone fragments from osteochondritis dissecans had been diagnosed in various affected persons. By x-ray, affected persons showed platyspondyly, irregularity of the femoral head (in childhood) and degenerative changes therein (in adulthood), and moderately severe degenerative changes in the joints of the hands. The family reported by Diamond (1970) was probably of this type.
Schantz et al. (1988) described this form of SED tarda in 4 successive generations.
Ramesar and Beighton (1992) documented a moderately severe form of autosomal dominant SED in 14 members of 3 generations of a family in Cape Town, South Africa. Affected persons had a short trunk, and radiographic studies indicated that skeletal involvement was essentially confined to hips and spine. Unlike a South African family with mild autosomal dominant SED called SED Kimberley (SEDK; 608361), previously reported by the same group (Anderson et al., 1990), this family was of mixed Bushman, Hottentot, Madagascan and West African Black, European, and Javanese extraction.
Mapping
In a family with a moderately severe form of autosomal dominant SED, Ramesar and Beighton (1992) found linkage of the disorder with RFLPs within the COL2A1 gene (120140) on chromosome 12q13.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short trunk, not evident at birth \- Reduced upper- to lower-body segment ratio CHEST External Features \- Barrel-shaped chest SKELETAL Spine \- Platyspondyly \- Irregular end plates \- Kyphoscoliosis (in some patients) \- Scoliosis (in some patients) \- Arthritis Pelvis \- Bilateral congenital hip dislocation (in some patients) \- Reduction in hip movement \- Osteochondritis dessecans of the hip \- Bilateral hip pain Limbs \- Osteochondritis dessecans of the shoulders, elbows, and knees \- Arthritis \- Bilateral knee pain \- Stiff gait MISCELLANEOUS \- Progressive disease \- Onset between 2 to 20 years ▲ 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
|
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
|
c1866717
| 7,135 |
omim
|
https://www.omim.org/entry/184100
| 2019-09-22T16:34:23 |
{"mesh": ["C566658"], "omim": ["184100"], "orphanet": ["93284"], "synonyms": []}
|
Cutaneous diphtheria infection
SpecialtyInfectious disease
Cutaneous diphtheria is an infection of the skin by Corynebacterium diphtheriae.[1]:265 It is also known as "desert sore".[2]
## See also[edit]
* Diphtheria
* 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. ^ Geoffrey V. Gill; Nick Beeching (1 March 2004). Lecture notes on tropical medicine. Wiley-Blackwell. pp. 33–. ISBN 978-0-632-06496-0. Retrieved 14 May 2010.
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
|
Cutaneous diphtheria infection
|
c0012555
| 7,136 |
wikipedia
|
https://en.wikipedia.org/wiki/Cutaneous_diphtheria_infection
| 2021-01-18T18:49:27 |
{"umls": ["C0012555"], "wikidata": ["Q5196693"]}
|
Sympathetic uveitis
Other namesspared eye injury
SpecialtyOphthalmology
Symptomsfloaters, photophobia
Complicationsuveitis, blindness
Sympathetic ophthalmia (SO), also called spared eye injury, is a diffuse granulomatous inflammation of the uveal layer of both eyes following trauma to one eye. It can leave the affected person completely blind. Symptoms may develop from days to several years after a penetrating eye injury. It typically results from a delayed hypersensitivity reaction.
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 History
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Eye floaters and loss of accommodation are among the earliest symptoms. The disease may progress to severe inflammation of the uveal layer of the eye (uveitis) with pain and sensitivity of the eyes to light. The affected eye often remains relatively painless while the inflammatory disease spreads through the uvea, where characteristic focal infiltrates in the choroid named Dalén–Fuchs nodules can be seen. The retina, however, usually remains uninvolved, although perivascular cuffing of the retinal vessels with inflammatory cells may occur. Swelling of the optic disc (papilledema), secondary glaucoma, vitiligo, and poliosis of the eyelashes may accompany SO.
## Pathophysiology[edit]
Sympathetic ophthalmia is currently thought to be an autoimmune inflammatory response toward ocular antigens, specifically a delayed hypersensitivity to melanin-containing structures from the outer segments of the photoreceptor layer of the retina. The immune system, which normally is not exposed to ocular proteins, is introduced to the contents of the eye following traumatic injury.[1] Once exposed, it senses these antigens as foreign, and begins attacking them. The onset of this process can be from days to years after the inciting traumatic event.
## Diagnosis[edit]
Diagnosis is clinical, seeking a history of eye injury. An important differential diagnosis is Vogt–Koyanagi–Harada syndrome (VKH), which is thought to have the same pathogenesis, without a history of surgery or penetrating eye injury.
Still experimental, skin tests with soluble extracts of human or bovine uveal tissue are said to elicit delayed hypersensitivity responses in these patients. Additionally, circulating antibodies to uveal antigens have been found in patients with SO and VKH, as well as those with long-standing uveitis, making this a less than specific assay for SO and VKH.
## Treatment[edit]
Because SO is so rarely encountered following eye injury, even when the injured eye is retained, the first choice of treatment may not be enucleation or evisceration, especially if there is a chance that the injured eye may regain some function.[2] Additionally, with current advanced surgical techniques, many eyes once considered nonviable now have a fair prognosis.
However, only if the injured eye has completely lost its vision and has no potential for any visual recovery, prevention of SO is done by enucleation of the injured eye preferably within the first 2 weeks of injury. Evisceration—the removal of the contents of the globe while leaving the sclera and extraocular muscles intact—is easier to perform, offers long-term orbital stability, and is more aesthetically pleasing, i.e., a greater measure of movement of the prosthesis and thus a more natural appearance. There is concern, however, that evisceration may lead to a higher incidence of SO compared to enucleation.[3] Several retrospective studies involving over 3,000 eviscerations, however, have failed to identify a single case of SO.
Once SO is developed, immunosuppressive therapy is the mainstay of treatment. When initiated promptly following injury, it is effective in controlling the inflammation and improving the prognosis. Mild cases may be treated with local application of corticosteroids and pupillary dilators. More severe or progressive cases require high-dose systemic corticosteroids for months to years. Patients who become resistant to corticosteroids or develop side effects of long-term corticosteroid therapy (osteoporosis and pathologic fractures, mental status changes, etc.), may be candidates for therapy with chlorambucil, cyclophosphamide, or ciclosporin.
## Epidemiology[edit]
Sympathetic ophthalmia is rare, affecting 0.2% to 0.5% of non-surgical eye wounds, and less than 0.01% of surgical penetrating eye wounds. There are no gender or racial differences in incidence of SO.
## History[edit]
Although descriptions of sympathetic ophthalmia can be found in ancient Greek texts, modern understanding of SO derives from the works of Scotland's William MacKenzie who characterized and named the disease sympathetic ophthalmitis. At MacKenzie's time, oral mercury and leeches applied to the conjunctiva were the treatments of choice for SO.[4]
It is thought that Louis Braille, who injured one of his eyes as a child, lost vision in his other eye owing to SO.[5] James Thurber's adult blindness was also diagnosed as sympathetic ophthalmia deriving from the loss of an eye when he was six years old.[6]
## See also[edit]
* Vogt–Koyanagi–Harada disease
## References[edit]
1. ^ A cautionary tale from the past, by K. Barry Sharpless, in MIT Tech Talk; published March 19, 1992; retrieved May 10, 2016
2. ^ a b Gürdal, C; Erdener, U; Irkeç, M; Orhan, M (Sep 2002). "Incidence of sympathetic ophthalmia after penetrating eye injury and choice of treatment". Ocular Immunology and Inflammation. 10 (3): 223–7. doi:10.1076/ocii.10.3.223.15600. PMID 12789598. S2CID 37549417.
3. ^ a b Migliori, ME (Oct 2002). "Enucleation versus evisceration". Current Opinion in Ophthalmology. 13 (5): 298–302. doi:10.1097/00055735-200210000-00002. PMID 12218460. S2CID 37461923.
4. ^ a b Albert, DM; Diaz-Rohena, R (Jul–Aug 1989). "A historical review of sympathetic ophthalmia and its epidemiology". Survey of Ophthalmology. 34 (1): 1–14. doi:10.1016/0039-6257(89)90125-2. PMID 2678549.
5. ^ a b Kaden, R (Jan 1977). "[Historic notices of Louis braille and the development of dot-writing (author's transl)]". Klinische Monatsblätter für Augenheilkunde. 170 (1): 154–8. PMID 321864.
6. ^ Ravin, James G. (2002). "James Thurber and the Problems of Sympathetic Ophthalmia". Archives of Ophthalmology. 120 (5): 628–32. doi:10.1001/archopht.120.5.628. PMID 12003613.
7. ^ Chu, DS; Foster, CS (Summer 2002). "Sympathetic ophthalmia". International Ophthalmology Clinics. 42 (3): 179–85. doi:10.1097/00004397-200207000-00019. PMID 12131594. S2CID 13642276.
8. ^ Damico, FM; Kiss, S; Young, LH (Jul–Sep 2005). "Sympathetic ophthalmia". Seminars in Ophthalmology. 20 (3): 191–7. doi:10.1080/08820530500232100. PMID 16282154. S2CID 44157713.
9. ^ Friedlaender, MH; O'Connor GR (2001). Medical immunology (10th ed.). Lange Medical Books/McGraw-Hill. ISBN 978-0-8385-6300-7.
10. ^ Zaharia, MA; Lamarche, J; Laurin, M (Aug 1984). "Sympathetic uveitis 66 years after injury". Canadian Journal of Ophthalmology. 19 (5): 240–3. PMID 6478310.
## External links[edit]
Classification
D
* ICD-10: H44.1
* ICD-9-CM: 360.11
* MeSH: D009879
External resources
* Orphanet: 79098
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Sympathetic ophthalmia
|
c0029077
| 7,137 |
wikipedia
|
https://en.wikipedia.org/wiki/Sympathetic_ophthalmia
| 2021-01-18T18:30:15 |
{"mesh": ["D009879"], "umls": ["C0029077"], "orphanet": ["79098"], "wikidata": ["Q2037487"]}
|
## Clinical Features
Fitzsimmons et al. (1983) reported mental retardation with spastic paraplegia and palmoplantar hyperkeratosis in 4 brothers whose ages ranged from 16 to 35 years at the time of report. Pes cavus was striking. The mother was of normal intelligence but had plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her 3 daughters, aged 28 to 34 years, were normal.
Isidor et al. (2013) reported 2 maternal half brothers with palmoplantar hyperkeratosis, mild intellectual disability, and brisk reflexes and hypertonia in the lower limbs consistent with spastic paraplegia. Both boys also had tremors in the upper limbs and one had bilateral pes cavus deformity. The boys' mother had a normal dermatologic examination and no motor disabilities. On neurologic examination, she had brisk reflexes, left Babinski sign, and a postural hand tremor. She had moderate school learning difficulties. Analysis at the FMR1 locus (309550) suggested skewing of the X-inactivation pattern, although the skewing was incomplete (less than 95%). The fathers of the half brothers were not related.
Inheritance
The transmission pattern of mental retardation with spastic paraplegia and palmoplantar hyperkeratosis in the families reported by Fitzsimmons et al. (1983) and Isidor et al. (2013) supports X-linked recessive inheritance of the disorder.
INHERITANCE \- X-linked recessive HEAD & NECK Mouth \- High palate SKELETAL Feet \- Pes cavus SKIN, NAILS, & HAIR Skin \- Palmoplantar hyperkeratosis NEUROLOGIC Central Nervous System \- Intellectual disability, mild \- Brisk reflexes \- Hypertonia (in lower limbs) \- Spastic paraplegia \- Tremors (in hands) MISCELLANEOUS \- Two families described (last curated July 2013) ▲ 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 WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS
|
c2745996
| 7,138 |
omim
|
https://www.omim.org/entry/309560
| 2019-09-22T16:17:49 |
{"mesh": ["C537058"], "omim": ["309560"], "orphanet": ["2824"]}
|
Rare X-linked form of chondrodysplasia punctata
Conradi–Hünermann syndrome
Other names"Conradi–Hünermann–Happle syndrome",[1]:500 "Happle syndrome,"[2] and "X-linked dominant chondrodysplasia punctata"[2]
SpecialtyMedical genetics
Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene[3][4] and affects between one in 100,000 and one in 200,000 babies.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Screening
* 5 Treatment
* 6 History
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Possible signs and symptoms may include[citation needed]
* Growth deficiency
* Low nasal bridge
* Flat face
* Down-slanting space between eyelids
* Cataracts
* Asymmetric limb shortness
* Joint shortening or spasms
* Frequent scoliosis
* Frequent kyphosis
* Abnormal redness of the skin
* Thick scales on infant skin
* Large skin pores
* Flaky Skin
* Sparse hair
* Coarse hair
* Bald spots/ Alopecia
* Ichthyosis
## Genetics[edit]
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present. While evidence suggests that Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.[citation needed]
The genetics of Conradi–Hünermann syndrome have perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.[citation needed]
## Diagnosis[edit]
An important test to confirm a diagnosis of Conradi-Hünermann syndrome is evaluating the plasma for elevated levels of a substance known as sterols. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Sterol levels are measured by gas chromatography-mass spectrometry. [5]
## Screening[edit]
Genetic screening for Conradi-Hünermann syndrome via the EBP Gene is offered by multiple providers.[6][7]
## Treatment[edit]
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.[citation needed]
## History[edit]
It is also known as Happle's syndrome, after the German Physician, Rudolf Happle (b. 1938), who wrote a series of papers about the disease in 1976. The name Conradi-Hünermann Syndrome is named for Erich Conradi (1882–1968), and Carl (Karl) Hünermann (1904–1978), both are German Physicians.[citation needed]
## See also[edit]
* Chondrodysplasia punctata
* Fetal warfarin syndrome
* List of cutaneous conditions
* List of radiographic findings associated with cutaneous conditions
## References[edit]
1. ^ Thomas Bernard Fitzpatrick; Irwin M. Freedberg (2003). Fitzpatrick's Dermatology in General Medicine. ISBN 978-0-07-138076-8.
2. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.; Joseph L. Jorizzo; Ronald P. Rapini (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V (2008). "Two novel EBP mutations in Conradi–Hünermann–Happle syndrome". Eur J Dermatol. 18 (4): 391–3. doi:10.1684/ejd.2008.0433 (inactive 2021-01-16). PMID 18573709.CS1 maint: DOI inactive as of January 2021 (link)
4. ^ Steijlen PM, van Geel M, Vreeburg M, et al. (December 2007). "Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome". Br. J. Dermatol. 157 (6): 1225–9. doi:10.1111/j.1365-2133.2007.08254.x. PMID 17949453. S2CID 25890696.
5. ^ National Organization for Rare Disorders. "Conradi Hünermann Syndrome - NORD (National Organization for Rare Disorders)". National Organization for Rare Disorders. National Organization for Rare Disorders. Retrieved 2018-03-01.
6. ^ National Center for Biotechnology Information (2016-08-17). "Clinical test for Chondrodysplasia punctata 2 X-linked dominant Offered by Laboratory Genetic Metabolic Diseases". National Center for Biotechnology Information. National Center for Biotechnology Information. Retrieved 2018-03-01.
7. ^ National Center for Biotechnology Information (2017-12-04). "Clinical test for Chondrodysplasia punctata 2 X-linked dominant offered by PreventionGenetics". National Center for Biotechnology Information. National Center for Biotechnology Information. Retrieved 2018-03-01.
## External links[edit]
Classification
D
* ICD-10: Q77.3
* ICD-9-CM: 756.59
* OMIM: 302960
* DiseasesDB: 32527
* SNOMED CT: 398719004
* GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi–Hünermann Syndrome, Happle Syndrome
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Inborn errors of steroid metabolism
Mevalonate
pathway
* HMG-CoA lyase deficiency
* Hyper-IgD syndrome
* Mevalonate kinase deficiency
To cholesterol
* 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
* CHILD syndrome
* Conradi-Hünermann syndrome
* Lathosterolosis
* Smith–Lemli–Opitz syndrome
* desmosterol path: Desmosterolosis
Steroids
Corticosteroid
(including CAH)
* aldosterone: Glucocorticoid remediable aldosteronism
* cortisol/cortisone: CAH 17α-hydroxylase
* CAH 11β-hydroxylase
* both: CAH 3β-dehydrogenase
* CAH 21-hydroxylase
* Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
Sex steroid
To androgens
* 17α-Hydroxylase deficiency
* 17,20-Lyase deficiency
* Cytochrome b5 deficiency
* 3β-Hydroxysteroid dehydrogenase deficiency
* 17β-Hydroxysteroid dehydrogenase deficiency
* 5α-Reductase deficiency
* Pseudovaginal perineoscrotal hypospadias
To estrogens
* Aromatase deficiency
* Aromatase excess syndrome
Other
* X-linked ichthyosis
* Antley–Bixler 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
|
Conradi–Hünermann syndrome
|
None
| 7,139 |
wikipedia
|
https://en.wikipedia.org/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome
| 2021-01-18T18:58:40 |
{"icd-9": ["756.59"], "icd-10": ["Q77.3"], "wikidata": ["Q2964437"]}
|
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Proximal myopathy with focal depletion of mitochondria
|
c1833453
| 7,140 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521305
| 2021-01-23T16:54:56 |
{"mesh": ["C563453"], "omim": ["600706"]}
|
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.
## Epidemiology
The prevalence is hard to predict as many SECORD patients have been previously diagnosed as Leber congenital amaurosis (LCA) patients.
## Clinical description
SECORD occurs during childhood and covers patients with severe congenital night blindness, nystagmus, a significantly reduced visual acuity (less or equal than 0.3) along with a progressive panretinal dystrophy of diverse extent and affection of the macula. The first symptoms can be recognized in the first year of life. Color vision is impaired in saturated and desaturated tests. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. However, compared to LCA, the visual function in SECORD is much better, despite the progressive loss of visual function early in the disease that can lead to blindness in the second to third decade of life, depending on the underlying gene and mutation.
## Etiology
SECORD is genetically heterogeneous, being caused by many genes including those causing LCA (ABCA4 (1p22), ADAMTS18 (16q23), AIPL1 (17p13.1), BEST1 (11q12), CRB1 (1q31.3), CRX (19q13.3), GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15), IMPG2 (3q12.2-q12.3), IQCB1 (3q21.1), KCNJ13 (2q37), LCA5 (6q14), LRAT (4q32.1), MERTK (2q14.1), NMNAT1 (1p36.22), RDH12 (14q24.1), RPE65 (1p31), RPGR (Xp11.4), RPGRIP1 (14q11.2), SPATA7 (14q31.3), TULP1 (6p21.3)). SECORD has however been primarily associated with mutations in RPE65 (2-10% of SECORD patients) and LRAT.
## Diagnostic methods
Diagnosis of SECORD includes rod and cone responses below or near threshold in electroretinography. Psychophysical testing predicts cone-rod and rod-cone dystrophies. Patients may show a normal appearing fundus at birth but develop a panretinal dystrophy including the macula later in infancy and early childhood. Corresponding alterations of retinal layers are seen with spectral domain optical coherence tomography. A lack of fundus auto fluorescence is observed from early childhood in a subset of patients with RPE65 or LRAT mutations. Goldmann perimetry reveals severe visual field constriction and central scotomata depending on the type of progression. Bone spicules are usually not detected but pigment accumulations develop with the progress of the disease. Molecular diagnosis is performed by using next generation sequencing panel covering the whole sequence of the known reported genes (90% cases). Identified mutations and segregation analysis in the parents is confirmed by Sanger sequencing.
## Differential diagnosis
Differential diagnosis includes LCA, Alström syndrome, autosomal recessive bestrophinopathy, Bardet-Biedl syndrome, achromatopsia, Stargardt disease, Usher syndrome, Senior-Loken syndrome, Saldino-Mainzer syndrome, Joubert syndrome, abetalipoproteinemia, infantile Refsum disease, neonatal adrenoleukodystrophy, Zellweger syndrome and juvenile neuronal ceroid lipofuscinosis.
## Genetic counseling
SECORD is usually inherited in an autosomal recessive manner but autosomal dominant (CRX, GUCY2D, IMPDH1, IMPG1, IMPG2) and X-linked inheritance have also been observed.
## Management and treatment
SECORD is currently incurable and therapies are being investigated, including gene therapy for RPE65, ABCA4 and MERTK. Retinoid supplementation therapy (9-cis-retinoid) is used for patients with mutations in RPE65 and LRAT. Treatment is supportive and includes correction of refractive error and use of low-vision aids.
## Prognosis
The visual performance in bright light permits attendance at regular schools during the elementary years. Due to the genetic heterogeneity, a broad spectrum of progression exists that does not correlate with specific mutations. Useful visual function is frequently preserved beyond the second decade of life and a number of patients retain residual islands of peripheral vision, albeit considerably compromised, in the third decade of life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Severe early-childhood-onset retinal dystrophy
|
c1858080
| 7,141 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364055
| 2021-01-23T19:03:16 |
{"mesh": ["C565741"], "umls": ["C1858080"], "icd-10": ["H35.5"], "synonyms": ["EOSRD", "Early-onset severe retinal dystrophy", "SECORD"]}
|
Granulomatous facial dermatitis is found in patients with persistent facial erythema involving one or more convex surfaces of the face, with lesions that show granulomatous reaction histologically.[1]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 249. 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
|
Granulomatous facial dermatitis
|
None
| 7,142 |
wikipedia
|
https://en.wikipedia.org/wiki/Granulomatous_facial_dermatitis
| 2021-01-18T18:52:27 |
{"wikidata": ["Q5596831"]}
|
Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis); and/or abnormal lateral curvature of the spine (scoliosis). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome). Females affected with this condition generally have more symptoms than affected males. Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Craniofrontonasal dysplasia
|
c0220767
| 7,143 |
gard
|
https://rarediseases.info.nih.gov/diseases/1578/craniofrontonasal-dysplasia
| 2021-01-18T18:01:03 |
{"mesh": ["C536456"], "omim": ["304110"], "umls": ["C0220767"], "orphanet": ["1520"], "synonyms": ["Craniofrontonasal syndrome", "CFNS", "CFND", "Craniofrontonasal dysostosis"]}
|
Chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure
Pressure ulcer
Other namesDecubiti, decubitus, or decubitous ulcers, pressure injuries, pressure sores, bedsores
Stage IV decubitus displaying the tuberosity of the ischium protruding through the tissue, and possible onset of osteomyelitis.
SpecialtyPlastic surgery
Complicationsinfection
Stage IV decubitus
Pressure ulcers, also known as pressure sores or bed sores, are localised damage to the skin and/or underlying tissue that usually occur over a bony prominence as a result of usually long-term pressure, or pressure in combination with shear or friction. The most common sites are the skin overlying the sacrum, coccyx, heels, and hips, though other sites can be affected, such as the elbows, knees, ankles, back of shoulders, or the back of the cranium.
Pressure ulcers occur due to pressure applied to soft tissue resulting in completely or partially obstructed blood flow to the soft tissue. Shear is also a cause, as it can pull on blood vessels that feed the skin. Pressure ulcers most commonly develop in individuals who are not moving about, such as those who are on chronic bedrest or consistently use a wheelchair. It is widely believed that other factors can influence the tolerance of skin for pressure and shear, thereby increasing the risk of pressure ulcer development. These factors are protein-calorie malnutrition, microclimate (skin wetness caused by sweating or incontinence), diseases that reduce blood flow to the skin, such as arteriosclerosis, or diseases that reduce the sensation in the skin, such as paralysis or neuropathy. The healing of pressure ulcers may be slowed by the age of the person, medical conditions (such as arteriosclerosis, diabetes or infection), smoking or medications such as anti-inflammatory drugs.
Although often prevented and treatable if detected early, pressure ulcers can be very difficult to prevent in critically ill people, frail elders and individuals with impaired mobility such as wheelchair users (especially where spinal injury is involved). Primary prevention is to redistribute pressure by regularly turning the person. The benefit of turning to avoid further sores is well documented since at least the 19th century[citation needed]. In addition to turning and re-positioning the person in the bed or wheelchair, eating a balanced diet with adequate protein and keeping the skin free from exposure to urine and stool is very important[citation needed].
The rate of pressure ulcers in hospital settings is high; the prevalence in European hospitals ranges from 8.3% to 23%, and the prevalence is 26% in Canadian healthcare settings.[1] In 2013, there were 29,000 documented deaths from pressure ulcers globally, up from 14,000 deaths in 1990.[2]
## Contents
* 1 Presentation
* 1.1 Complications
* 2 Cause
* 2.1 Risk Factors
* 3 Pathophysiology
* 3.1 Sites
* 3.2 Biofilm
* 4 Diagnosis
* 4.1 Classification
* 5 Prevention
* 5.1 Redistributing pressure
* 5.2 Support surfaces
* 5.3 Nutrition
* 5.4 Organisational changes
* 5.5 Other prevention therapies
* 6 Treatment
* 6.1 Debridement
* 6.2 Dressings
* 6.3 Other treatments
* 7 Epidemiology
* 8 References
* 9 Further reading
* 10 External links
## Presentation[edit]
### Complications[edit]
Pressure ulcers can trigger other ailments, cause considerable suffering, and can be expensive to treat. Some complications include autonomic dysreflexia, bladder distension, bone infection, pyarthroses, sepsis, amyloidosis, anemia, urethral fistula, gangrene and very rarely malignant transformation (Marjolin's ulcer \- secondary carcinomas in chronic wounds). Sores may recur if those with pressure ulcers do not follow recommended treatment or may instead develop seromas, hematomas, infections, or wound dehiscence. Paralyzed individuals are the most likely to have pressure sores recur. In some cases, complications from pressure sores can be life-threatening. The most common causes of fatality stem from kidney failure and amyloidosis. Pressure ulcers are also painful, with individuals of all ages and all stages of pressure ulcers reporting pain.[citation needed]
## Cause[edit]
There are four mechanisms that contribute to pressure ulcer development:[3]
1. External (interface) pressure applied over an area of the body, especially over the bony prominences can result in obstruction of the blood capillaries, which deprives tissues of oxygen and nutrients, causing ischemia (deficiency of blood in a particular area), hypoxia (inadequate amount of oxygen available to the cells), edema, inflammation, and, finally, necrosis and ulcer formation. Ulcers due to external pressure occur over the sacrum and coccyx, followed by the trochanter and the calcaneus (heel).
2. Friction is damaging to the superficial blood vessels directly under the skin. It occurs when two surfaces rub against each other. The skin over the elbows can be injured due to friction. The back can also be injured when patients are pulled or slid over bed sheets while being moved up in bed or transferred onto a stretcher.
3. Shearing is a separation of the skin from underlying tissues. When a patient is partially sitting up in bed, their skin may stick to the sheet, making them susceptible to shearing in case underlying tissues move downward with the body toward the foot of the bed. This may also be possible on a patient who slides down while sitting in a chair.
4. Moisture is also a common pressure ulcer culprit. Sweat, urine, feces, or excessive wound drainage can further exacerbate the damage done by pressure, friction, and shear. It can contribute to maceration of surrounding skin thus potentially expanding the deleterious effects of pressure ulcers.
### Risk Factors[edit]
There are over 100 risk factors for pressure ulcers.[4] Factors that may place a patient at risk include immobility, diabetes mellitus, peripheral vascular disease, malnutrition, cerebral vascular accident and hypotension.[4][5] Other factors are age of 70 years and older, current smoking history, dry skin, low body mass index, urinary and fecal incontinence, physical restraints, malignancy, and history of pressure ulcers.
## Pathophysiology[edit]
Pressure ulcers may be caused by inadequate blood supply and resulting reperfusion injury when blood re-enters tissue. A simple example of a mild pressure sore may be experienced by healthy individuals while sitting in the same position for extended periods of time: the dull ache experienced is indicative of impeded blood flow to affected areas. Within 2 hours, this shortage of blood supply, called ischemia, may lead to tissue damage and cell death. The sore will initially start as a red, painful area. The other process of pressure ulcer development is seen when pressure is high enough to damage the cell membrane of muscle cells. The muscle cells die as a result and skin fed through blood vessels coming through the muscle die. This is the deep tissue injury form of pressure ulcers and begins as purple intact skin.
According to Centers for Medicare and Medicaid Services, pressure ulcers are one of the eight preventable iatrogenic illnesses. If a pressure ulcer is acquired in the hospital, the hospital will no longer receive reimbursement for the person's care. Hospitals spend about $5 billion annually for treatment of pressure ulcers.[6]
### Sites[edit]
Pressure ulcer points. Red: in supine position. Blue: in side-lying position.
Common pressure sore sites include the skin over the ischial tuberosity, the sacrum, the heels of the feet, over the heads of the long bones of the foot, buttocks, over the shoulder, and over the back of the head.[7]
### Biofilm[edit]
Biofilm is one of the most common reasons for delayed healing in pressure ulcers. Biofilm occurs rapidly in wounds and stalls healing by keeping the wound inflamed. Frequent debridement and antimicrobial dressings are needed to control the biofilm. Infection prevents healing of pressure ulcers. Signs of pressure ulcer infection include slow or delayed healing and pale granulation tissue. Signs and symptoms of systemic infection include fever, pain, redness, swelling, warmth of the area, and purulent discharge. Additionally, infected wounds may have a gangrenous smell, be discolored, and may eventually produce more pus.
In order to eliminate this problem, it is imperative to apply antiseptics at once. Hydrogen peroxide (a near-universal toxin) is not recommended for this task as it increases inflammation and impedes healing.[8] Dressings with cadexomer iodine, silver, or honey have been shown to penetrate bacterial biofilms. Systemic antibiotics are not recommended in treating local infection in a pressure ulcer, as it can lead to bacterial resistance. They are only recommended if there is evidence of advancing cellulitis, bony infection, or bacteria in the blood.[9]
## Diagnosis[edit]
### Classification[edit]
Stages I to IV of a pressure ulcer
The definitions of the pressure ulcer stages are revised periodically by the National Pressure Injury Advisory Panel (NPUAP)[10] in the United States and the European Pressure Ulcer Advisory Panel (EPUAP) in Europe.[11] Different classification systems are used around the world, depending upon the health system, the health discipline and the purpose for the classifying (e.g. health care versus, prevalence studies versus funding.[12] Briefly, they are as follows:[13][14]
* Stage I: Intact skin with non-blanchable redness of a localized area usually over a bony prominence. Darkly pigmented skin may not have visible blanching; its color may differ from the surrounding area. The area differs in characteristics such as thickness and temperature as compared to adjacent tissue. Stage 1 may be difficult to detect in individuals with dark skin tones. May indicate "at risk" persons (a heralding sign of risk).
* Stage II: Partial thickness loss of dermis presenting as a shallow open ulcer with a red pink wound bed, without slough. May also present as an intact or open/ruptured serum-filled blister. Presents as a shiny or dry shallow ulcer without slough or bruising. This stage should not be used to describe skin tears, tape burns, perineal dermatitis, maceration or excoriation.
* Stage III: Full thickness tissue loss. Subcutaneous fat may be visible but bone, tendon or muscle are not exposed. Slough may be present but does not obscure the depth of tissue loss. May include undermining and tunneling. The depth of a stage 3 pressure ulcer varies by anatomical location. The bridge of the nose, ear, occiput and malleolus do not have (adipose) subcutaneous tissue and stage 3 ulcers can be shallow. In contrast, areas of significant adiposity can develop extremely deep stage 3 pressure ulcers. Bone/tendon is not visible or directly palpable.
* Stage IV: Full thickness tissue loss with exposed bone, tendon or muscle. Slough or eschar may be present on some parts of the wound bed. Often include undermining and tunneling. The depth of a stage 4 pressure ulcer varies by anatomical location. The bridge of the nose, ear, occiput and malleolus do not have (adipose) subcutaneous tissue and these ulcers can be shallow. Stage 4 ulcers can extend into muscle and/or supporting structures (e.g., fascia, tendon or joint capsule) making osteomyelitis likely to occur. Exposed bone/tendon is visible or directly palpable. In 2012, the National Pressure Injury Advisory Panel stated that pressure ulcers with exposed cartilage are also classified as a stage 4.
* Unstageable: Full thickness tissue loss in which actual depth of the ulcer is completely obscured by slough (yellow, tan, gray, green or brown) and/or eschar (tan, brown or black) in the wound bed. Until enough slough and/or eschar is removed to expose the base of the wound, the true depth, and therefore stage, cannot be determined. Stable (dry, adherent, intact without erythema or fluctuance) eschar on the heels is normally protective and should not be removed.
* Suspected Deep Tissue Injury: A purple or maroon localized area of discolored intact skin or blood-filled blister due to damage of underlying soft tissue from pressure and/or shear. The area may be preceded by tissue that is painful, firm, mushy, boggy, warmer or cooler as compared to adjacent tissue. A deep tissue injury may be difficult to detect in individuals with dark skin tones. Evolution may include a thin blister over a dark wound bed. The wound may further evolve and become covered by thin eschar. Evolution may be rapid exposing additional layers of tissue even with optimal treatment.
The term medical device related pressure ulcer refers to a cause rather than a classification. Pressure ulcers from a medical device are classified according to the same classification system being used for pressure ulcers arising from other causes, but the cause is usually noted.
## Prevention[edit]
In the United Kingdom, the Royal College of Nursing has published guidelines in 'Pressure ulcer risk assessment and prevention' that call for identifying people at risk and taking preventive action;[15] the UK National Standards for Care Homes (UK) to do so as well.[16] Recent efforts in the United States and South Korea have sought to automate risk assessment and classification by training machine learning models on electronic health records.[17][18][19]
Internationally, the NPIAP, EPUAP and Pan Pacific Pressure Injury Alliance, together with wound organizations from 15 countries around the world published updated the international evidence-based clinical practice guideline in 2019.[20] The 2019 guideline was developed by an international team of over 180 clinical specialists and updates the 2009 EPUAP/NPUAP clinical guideline and the 2014 NPUAP/EPUAP/PPPIA clinical guideline. The guideline includes recommendations on strategies to treat pressure ulcers, including the use of bed rest, pressure redistributing support surfaces, nutritional support, repositioning, wound care (e.g. debridement, wound dressings) and biophysical agents (e.g. electrical stimulation).[21] Reliable scientific evidence to support the use of many of these interventions, though, is lacking. More research is needed to assess how to best support the treatment of pressure ulcers, for example by repositioning.[22][23][24][25] Also, the benefit of using systemic or topical antibiotics in the management of pressure ulcer is still unclear.[26]
### Redistributing pressure[edit]
The most important care for a person at risk for pressure ulcers and those with bedsores is the redistribution of pressure so that no pressure is applied to the pressure ulcer.[27] In the 1940s Ludwig Guttmann introduced a program of turning paraplegics every two hours thus allowing bedsores to heal. Previously such individuals had a two-year life-expectancy, normally succumbing to blood and skin infections. Guttmann had learned the technique from the work of Boston physician Donald Munro.[28]
There is lack of evidence on prevention of pressure ulcer whether the patient is put in 30 degrees position or at the standard 90 degrees position.[29]
Nursing homes and hospitals usually set programs in place to avoid the development of pressure ulcers in those who are bedridden, such as using a routine time frame for turning and repositioning to reduce pressure. The frequency of turning and repositioning depends on the person's level of risk.
### Support surfaces[edit]
A 2015 Cochrane review found that people who lay on high specification or high density foam mattresses were 60% less likely to develop new pressure ulcers compared to regular foam mattresses. Sheepskin overlays on top of mattresses were also found to prevent new pressure ulcer formation. There is unclear research on the effectiveness of alternating pressure mattresses. Pressure-redistributive mattresses are used to reduce high values of pressure on prominent or bony areas of the body. There are several important terms used to describe how these support surfaces work. These terms were standardized through the Support Surface Standards Initiative of the NPUAP.[30] Many support surfaces redistribute pressure by immersing and/or enveloping the body into the surface. Some support surfaces, including antidecubitus mattresses and cushions, contain multiple air chambers that are alternately pumped.[31][32] Methods to standardize the products and evaluate the efficacy of these products have only been developed in recent years through the work of the S3I within NPUAP.[33] For individuals with paralysis, pressure shifting on a regular basis and using a wheelchair cushion featuring pressure relief components can help prevent pressure wounds.
Controlling the heat and moisture levels of the skin surface, known as skin microclimate management, also plays a significant role in the prevention and control of pressure ulcers.[34]
### Nutrition[edit]
In addition, adequate intake of protein and calories is important. Vitamin C has been shown to reduce the risk of pressure ulcers. People with higher intakes of vitamin C have a lower frequency of bed sores in those who are bedridden than those with lower intakes. Maintaining proper nutrition in newborns is also important in preventing pressure ulcers. If unable to maintain proper nutrition through protein and calorie intake, it is advised to use supplements to support the proper nutrition levels.[35] Skin care is also important because damaged skin does not tolerate pressure. However, skin that is damaged by exposure to urine or stool is not considered a pressure ulcer. These skin wounds should be classified as Incontinence Associated Dermatitis.
### Organisational changes[edit]
There is some suggestion that organisational changes may reduce incidence of pressure ulcers. Cochrane reviews on organisation of health services,[36] risk assessment tools,[37] wound care teams,[38] and education[39] have concluded that evidence is uncertain as to the benefit of these organisational changes. This is largely due to the lack of high-quality research in these areas.
### Other prevention therapies[edit]
A Cochrane systematic review found use of creams containing fatty acids may be more effective in reducing incidence of pressure ulcers compared to creams without a fatty acids.[40] Silicone dressings may also reduce pressure ulcer incidence. There is no evidence that massage reduces pressure ulcer incidence.[41]
## Treatment[edit]
Internationally, the NPIAP, EPUAP and Pan Pacific Pressure Injury Alliance, together with wound organizations from 15 countries around the world published updated the international evidence-based clinical practice guideline in 2019.[42] The 2019 guideline was developed by an international team of over 180 clinical specialists and updates the 2009 EPUAP/NPUAP clinical guideline and the 2014 NPUAP/EPUAP/PPPIA clinical guideline.[43] The guideline includes recommendations on strategies to treat pressure ulcers, including the use of bed rest, pressure redistributing support surfaces, nutritional support, repositioning, wound care (e.g. debridement, wound dressings) and biophysical agents (e.g. electrical stimulation).[44] Reliable scientific evidence to support the use of many of these interventions, though, is lacking. More research is needed to assess how to best support the treatment of pressure ulcers, for example by repositioning.[45][46][47][48] A 2020 Cochrane systematic review of randomized controlled trials concluded that more research is needed to determine whether or not electrical stimulation is an effective treatment for pressure ulcers.[49] In addition, the benefit of using systemic or topical antibiotics in the management of pressure ulcer is still unclear.[50]
### Debridement[edit]
Main article: Debridement
Necrotic tissue should be removed in most pressure ulcers. The heel is an exception in many cases when the limb has an inadequate blood supply. Necrotic tissue is an ideal area for bacterial growth, which has the ability to greatly compromise wound healing. There are five ways to remove necrotic tissue.
1. Autolytic debridement is the use of moist dressings to promote autolysis with the body's own enzymes and white blood cells. It is a slow process, but mostly painless, and is most effective in individuals with a properly functioning immune system.
2. Biological debridement, or maggot debridement therapy, is the use of medical maggots to feed on necrotic tissue and therefore clean the wound of excess bacteria. Although this fell out of favor for many years, in January 2004, the FDA approved maggots as a live medical device.[51]
3. Chemical debridement, or enzymatic debridement, is the use of prescribed enzymes that promote the removal of necrotic tissue.
4. Mechanical debridement, is the use of debriding dressings, whirlpool or ultrasound for slough in a stable wound
5. Surgical debridement, or sharp debridement, is the fastest method, as it allows a surgeon to quickly remove dead tissue.
### Dressings[edit]
A 2017 Cochrane review found that it was unclear whether one topical agent or dressing was better than another for treating pressure ulcers. Protease-modulating dressings, foam dressings or collagenase ointment may be better at healing than gauze.[52] The wound dressing should be selected based on the wound and condition of the surrounding skin. There are some studies that indicate that antimicrobial products that stimulate the epithelization may improve the wound healing.[53] However there is no international consensus on the selection of the dressings for pressure ulcers.[54] Cochrane reviews summarise evidence on alginate dressings,[55] foam dressings,[56] and hydrogel dressings.[57] Due to a lack of robust evidence, the benefits of these dressings over other treatments is unclear.
Some guidelines for dressing are:[58]
Condition Cover dressing
None to moderate exudates Gauze with tape or composite
Moderate to heavy exudates Foam dressing with tape or composite
Frequent soiling Hydrocolloid dressing, film or composite
Fragile skin Stretch gauze or stretch net
### Other treatments[edit]
Other treatments include anabolic steroids,[59] negative pressure wound therapy,[60] phototherapy,[61] support surfaces,[62] reconstructive surgery,[63] ultrasound,[64] topical phenytoin,[65] and pressure relieving devices.[66] There is little or no evidence to support or refute the benefits of most of these treatments compared to each other and placebo. When selecting treatments, consideration should be given to patients' quality of life as well as the interventions' ease of use, reliability, and cost.
## Epidemiology[edit]
Pressure ulcers resulted in 29,000 deaths worldwide in 2013 up from 14,000 deaths in 1990.[2]
Each year, more than 2.5 million people in the United States develop pressure ulcers.[67] In acute care settings in the United States, the incidence of bedsores is 0.4% to 38%; within long-term care it is 2.2% to 23.9%, and in home care, it is 0% to 17%. Similarly, there is wide variation in prevalence: 10% to 18% in acute care, 2.3% to 28% in long-term care, and 0% to 29% in home care. There is a much higher rate of bedsores in intensive care units because of immunocompromised individuals, with 8% to 40% of those in the ICU developing bedsores.[68] However, pressure ulcer prevalence is highly dependent on the methodology used to collect the data. Using the European Pressure Ulcer Advisory Panel (EPUAP) methodology there are similar figures for pressure ulcers in acutely sick people in the hospital. There are differences across countries, but using this methodology pressure ulcer prevalence in Europe was consistently high, from 8.3% (Italy) to 22.9% (Sweden).[69] A recent study in Jordan also showed a figure in this range.[70] Some research shows differences in pressure-ulcer detection among white and black residents in nursing homes.[71]
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67. ^ Agency for Healthcare Research and Quality. "Preventing Pressure Ulcers in Hospitals". Archived from the original on 7 June 2012. Retrieved 8 June 2012.
68. ^ "Pressure ulcers in America: prevalence, incidence, and implications for the future. An executive summary of the National Pressure Ulcer Advisory Panel monograph". Advances in Skin & Wound Care. 14 (4): 208–15. 2001. doi:10.1097/00129334-200107000-00015. PMID 11902346.
69. ^ Vanderwee K, Clark M, Dealey C, Gunningberg L, Defloor T (April 2007). "Pressure ulcer prevalence in Europe: a pilot study". Journal of Evaluation in Clinical Practice. 13 (2): 227–35. doi:10.1111/j.1365-2753.2006.00684.x. PMID 17378869.
70. ^ Anthony D, Papanikolaou P, Parboteeah S, Saleh M (November 2010). "Do risk assessment scales for pressure ulcers work?". Journal of Tissue Viability. 19 (4): 132–6. doi:10.1016/j.jtv.2009.11.006. PMID 20036124.
71. ^ Li Y, Yin J, Cai X, Temkin-Greener J, Mukamel DB (July 2011). "Association of race and sites of care with pressure ulcers in high-risk nursing home residents". JAMA. 306 (2): 179–86. doi:10.1001/jama.2011.942. PMC 4108174. PMID 21750295.
## Further reading[edit]
* Lyder CH, Ayello EA (April 2008). "Pressure Ulcers: A Patient Safety Issue". In Hughes RG (ed.). Patient Safety and Quality: An Evidence-Based Handbook for Nurses. Rockville (MD): Agency for Healthcare Research and Quality (US).
* Qaseem A, Mir TP, Starkey M, Denberg TD (March 2015). "Risk assessment and prevention of pressure ulcers: a clinical practice guideline from the American College of Physicians". Annals of Internal Medicine. 162 (5): 359–69. doi:10.7326/M14-1567. PMID 25732278.
* Sukino Health Care Solutions (21 October 2019). "How to prevent and deal with bedsores before it is too late". sukino.com.
## External links[edit]
* Media related to Pressure ulcers at Wikimedia Commons
Classification
D
* ICD-10: L89
* ICD-9-CM: 707.0
* MeSH: D003668
* DiseasesDB: 10606
* SNOMED CT: 399912005
External resources
* MedlinePlus: 007071
* eMedicine: med/2709
* 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
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* Silicone granuloma
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Dermis/
localized CTD
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erythematosus
* chronic: Discoid
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* subacute: Neonatal
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* Lupus erythematosus–lichen planus overlap syndrome
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Morphea
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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
* v
* t
* e
Medicine
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and
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* Cardiac surgery
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* Portal
* Outline
Authority control
* GND: 4149036-8
* LCCN: sh85012764
* NDL: 00575922
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Pressure ulcer
|
c0011127
| 7,144 |
wikipedia
|
https://en.wikipedia.org/wiki/Pressure_ulcer
| 2021-01-18T18:29:06 |
{"mesh": ["D003668"], "umls": ["C0011127"], "wikidata": ["Q308978"]}
|
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, "crossed eyes" (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts). In most cases, only one eye is affected. Coats disease is not inherited and the underlying cause is not known. It has been theorized that some cases may be due to somatic mutations (acquired, not inherited) in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy and laser photocoagulation (alone or in combination), steroids for inflammation, and/or surgery for retinal detachment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Coats disease
|
c0154832
| 7,145 |
gard
|
https://rarediseases.info.nih.gov/diseases/6121/coats-disease
| 2021-01-18T18:01:16 |
{"mesh": ["D058456"], "omim": ["300216"], "umls": ["C0154832"], "orphanet": ["190"], "synonyms": ["Retinal telangiectasis", "Leber miliary aneurysm"]}
|
HIV-associated lipodystrophy
Other namesLipodystrophy in HIV-infected patients (LD-HIV)
SpecialtyImmunology, dermatology, infectious disease, endocrinology
HIV-associated lipodystrophy, is a condition characterized by loss of subcutaneous fat associated with infection with HIV.[1]:497
## Contents
* 1 Presentation
* 2 Cause
* 2.1 Evidence implicating anti-retroviral medications
* 2.2 Evidence implicating HIV infection alone
* 3 Management
* 4 Prognosis
* 5 See also
* 6 References
* 7 External links
## Presentation[edit]
HIV-associated lipodystrophy commonly presents with fat loss in face, buttocks, arms and legs.[citation needed]
There is also fat accumulation in various body parts. Patients often present with "buffalo hump"-like fat deposits in their upper backs. Breast size of patients (both male and female) tends to increase. In addition, patients develop abdominal obesity.[citation needed]
## Cause[edit]
The exact mechanism of HIV-associated lipodystrophy is not fully elucidated. There is evidence indicating both that it can be caused by anti-retroviral medications and that it can be caused by HIV infection in the absence of anti-retroviral medication.[citation needed]
### Evidence implicating anti-retroviral medications[edit]
On the one hand, lipodystrophy seems to be mainly due to HIV-1 protease inhibitors. Interference with lipid metabolism is postulated as pathophysiology. Also, the development of lipodystrophy is associated with specific nucleoside reverse transcriptase inhibitors (NRTI). Mitochondrial toxicity is postulated to be involved in the pathogenesis associated with NRTI.[2]
### Evidence implicating HIV infection alone[edit]
On the other hand, there is evidence that HIV-1 infection on its own contributes to the development of the lipodystrophic phenotype by interfering with some key genes of adipocyte differentiation and mitochondrial function on patients which have not received antiretroviral treatment.[3]
## Management[edit]
GHRH analogs such as tesamorelin can be used to treat HIV-associated lipodystrophy.[citation needed]
## Prognosis[edit]
Reversion of lipodystrophy does not occur after withdrawal of protease inhibitors.[2]
## See also[edit]
* Lipodystrophy
* Drug-induced lipodystrophy
* 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.
2. ^ a b Martinez E, Mocroft A, García-Viejo MA, et al. (February 2001). "Risk of lipodystrophy in HIV-1-infected patients treated with protease inhibitors: a prospective cohort study". Lancet. 357 (9256): 592–8. doi:10.1016/S0140-6736(00)04056-3. PMID 11558485. S2CID 33325225.
3. ^ Giralt M, Domingo P, Guallar JP, et al. (2006). "HIV-1 infection alters gene expression in adipose tissue, which contributes to HIV- 1/HAART-associated lipodystrophy". Antivir Ther. 11 (6): 729–40. PMID 17310817.
## External links[edit]
Classification
D
* MeSH: D039682
External resources
* eMedicine: article/1082199
* v
* t
* e
HIV/AIDS topics
HIV/AIDS
HIV
* HIV
* Lentivirus
* structure and genome
* subtypes
* CDC classification
* disease progression rates
* HIV/AIDS
* diagnosis
* management
* pathophysiology
* prevention
* research
* vaccination
* PrEP
* WHO disease staging system for HIV infection and disease
* Children
* Teens / Adults
* Countries by AIDS prevalence rate
Conditions
* Signs and symptoms
* AIDS-defining clinical condition
* Diffuse infiltrative lymphocytosis syndrome
* Lipodystrophy
* Nephropathy
* Neurocognitive disorders
* Pruritus
* Superinfection
* Tuberculosis co-infection
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* List of countries by HIV/AIDS adult prevalence rate
* List of HIV/AIDS cases and deaths registered by region
* v
* t
* e
Disorders of subcutaneous fat
Panniculitis
Lobular
* without vasculitis
* Cold
* Cytophagic histiocytic
* Factitial
* Gouty
* Pancreatic
* Traumatic
* needle-shaped clefts
* Subcutaneous fat necrosis of the newborn
* Sclerema neonatorum
* Post-steroid panniculitis
* Lipodermatosclerosis
* Weber–Christian disease
* Lupus erythematosus panniculitis
* Sclerosing lipogranuloma
* with vasculitis: Nodular vasculitis/Erythema induratum
Septal
* without vasculitis: Alpha-1 antitrypsin deficiency panniculitis
* Erythema nodosum
* Acute
* Chronic
* with vasculitis: Superficial thrombophlebitis
Lipodystrophy
Acquired
* generalized: Acquired generalized lipodystrophy
* partial: Acquired partial lipodystrophy
* Centrifugal abdominal lipodystrophy
* HIV-associated lipodystrophy
* Lipoatrophia annularis
* localized: Localized lipodystrophy
Congenital
* Congenital generalized lipodystrophy
* Familial partial lipodystrophy
* Marfanoid–progeroid–lipodystrophy syndrome
* Poland 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
|
HIV-associated lipodystrophy
|
c1136321
| 7,146 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV-associated_lipodystrophy
| 2021-01-18T18:28:48 |
{"mesh": ["D039682"], "wikidata": ["Q5629813"]}
|
"Pustule" redirects here. It is not to be confused with Boil.
See also: List of cutaneous conditions
Skin condition
Other namesCutaneous condition
3D medical illustration showing major layers of skin
SpecialtyDermatology
CausesSun exposure, vitamin deficiencies, substance usage, poor hygiene, cancers
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, hair, nails, and related muscle and glands.[1] The major function of this system is as a barrier against the external environment.[2]
Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails).[3][4] While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described.[5] Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known.[6][7] Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), cause (skin conditions resulting from physical factors), and so on.[8][9]
Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules, vesicles), and color (red, blue, brown, black, white, yellow).[10] The diagnosis of many conditions often also requires a skin biopsy which yields histologic information[11][12] that can be correlated with the clinical presentation and any laboratory data.[13][14] The introduction of cutaneous ultrasound has allowed the detection of cutaneous tumors, inflammatory processes, nail disorders and hair diseases.[15]
## Contents
* 1 Layer of skin involved
* 1.1 Epidermis
* 1.2 Dermis
* 1.3 Subcutaneous tissue
* 2 Diseases of the skin
* 3 History
* 4 Diagnoses
* 5 Lesions
* 5.1 Primary lesions
* 5.2 Secondary lesions
* 5.3 Configuration
* 5.4 Distribution
* 5.5 Other related terms
* 6 Histopathology
* 7 References
* 8 External links
## Layer of skin involved[edit]
Main article: Integumentary system
The skin weighs an average of 4 kg (8.8 lb), covers an area of 2 m2 (22 sq ft), and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue.[1] The two main types of human skin are glabrous skin, the nonhairy skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.[16] Within the latter type, hairs in structures called pilosebaceous units have a hair follicle, sebaceous gland, and associated arrector pili muscle.[17] In the embryo, the epidermis, hair, and glands are from the ectoderm, which is chemically influenced by the underlying mesoderm that forms the dermis and subcutaneous tissues.[18][19][20]
### Epidermis[edit]
Main article: Epidermis (skin)
The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale.[21] Nourishment is provided to these layers via diffusion from the dermis, since the epidermis is without direct blood supply.[22] The epidermis contains four cell types: keratinocytes, melanocytes, Langerhans cells, and Merkel cells. Of these, keratinocytes are the major component, constituting roughly 95% of the epidermis.[16] This stratified squamous epithelium is maintained by cell division within the stratum basale, in which differentiating cells slowly displace outwards through the stratum spinosum to the stratum corneum, where cells are continually shed from the surface.[16] In normal skin, the rate of production equals the rate of loss; about two weeks are needed for a cell to migrate from the basal cell layer to the top of the granular cell layer, and an additional two weeks to cross the stratum corneum.[23]
### Dermis[edit]
Main article: Dermis
The dermis is the layer of skin between the epidermis and subcutaneous tissue, and comprises two sections, the papillary dermis and the reticular dermis.[24] The superficial papillary dermis interdigitates with the overlying rete ridges of the epidermis, between which the two layers interact through the basement membrane zone.[24] Structural components of the dermis are collagen, elastic fibers, and ground substance also called extra fibrillar matrix.[24] Within these components are the pilosebaceous units, arrector pili muscles, and the eccrine and apocrine glands.[21] The dermis contains two vascular networks that run parallel to the skin surface—one superficial and one deep plexus—which are connected by vertical communicating vessels.[21][25] The function of blood vessels within the dermis is fourfold: to supply nutrition, to regulate temperature, to modulate inflammation, and to participate in wound healing.[26][27]
### Subcutaneous tissue[edit]
Main article: Subcutaneous tissue
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia.[5] This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus.[16] The main cellular component of this tissue is the adipocyte, or fat cell.[5] The structure of this tissue is composed of septal (i.e. linear strands) and lobular compartments, which differ in microscopic appearance.[21] Functionally, the subcutaneous fat insulates the body, absorbs trauma, and serves as a reserve energy source.[5]
## Diseases of the skin[edit]
For a comprehensive list, see List of cutaneous conditions.
Diseases of the skin include skin infections and skin neoplasms (including skin cancer).[28]
## History[edit]
See also: History of dermatology
In 1572, Geronimo Mercuriali of Forlì, Italy, completed De morbis cutaneis ('On the diseases of the skin'). It is considered the first scientific work dedicated to dermatology.
## Diagnoses[edit]
The physical examination of the skin and its appendages, as well as the mucous membranes, forms the cornerstone of an accurate diagnosis of cutaneous conditions.[29] Most of these conditions present with cutaneous surface changes termed "lesions," which have more or less distinct characteristics.[30] Often proper examination will lead the physician to obtain appropriate historical information and/or laboratory tests that are able to confirm the diagnosis.[29] Upon examination, the important clinical observations are the (1) morphology, (2) configuration, and (3) distribution of the lesion(s).[29] With regard to morphology, the initial lesion that characterizes a condition is known as the "primary lesion", and identification of such a lesions is the most important aspect of the cutaneous examination.[30] Over time, these primary lesions may continue to develop or be modified by regression or trauma, producing "secondary lesions".[1] However, with that being stated, the lack of standardization of basic dermatologic terminology has been one of the principal barriers to successful communication among physicians in describing cutaneous findings.[21] Nevertheless, there are some commonly accepted terms used to describe the macroscopic morphology, configuration, and distribution of skin lesions, which are listed below.[30]
## Lesions[edit]
### Primary lesions[edit]
Chigger bites on human skin showing characteristic welts
Macule and patch
Papule and plaque
Nodules
Vesicles and bulla
Fissures, erosions and ulcers
A pustule on the cheek
* Macule: A macule is a change in surface color, without elevation or depression and, therefore, nonpalpable, well or ill-defined,[10] variously sized, but generally considered less than either 5[10] or 10 mm in diameter at the widest point.[30]
* Patch: A patch is a large macule equal to or greater than either 5 or 10 mm across,[30] depending on one's definition of a macule.[1] Patches may have some subtle surface change, such as a fine scale or wrinkling, but although the consistency of the surface is changed, the lesion itself is not palpable.[29]
* Papule: A papule is a circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than either 5[10] or 10 mm in diameter at the widest point.[30]
* Plaque: A plaque has been described as a broad papule, or confluence of papules equal to or greater than 10 mm,[30] or alternatively as an elevated, plateau-like lesion that is greater in its diameter than in its depth.[29]
* Nodule: A nodule is morphologically similar to a papule in that it is also a palpable spherical lesion less than 10 mm in diameter. However, it is differentiated by being centered deeper in the dermis or subcutis.
* Tumour: Similar to a nodule but larger than 10 mm in diameter.
* Vesicle: A vesicle is small blister,[31] a circumscribed, fluid-containing, epidermal elevation generally considered less than either 5[10] or 10 mm in diameter at the widest point.[30] The fluid is clear serous fluid.
* Bulla: A bulla is a large blister,[31] a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than either 5[10] or 10 mm,[30] depending on one's definition of a vesicle.[1]
* Pustule: A pustule is a small elevation of the skin containing cloudy[29] or purulent material (pus) usually consisting of necrotic inflammatory cells.[30] These can be either white or red.
* Cyst: A cyst is an epithelial-lined cavity containing liquid, semi-solid, or solid material.[10]
* Relative incidence of skin cysts
* Wheal: A wheal is a rounded or flat-topped, pale red papule or plaque that is characteristically evanescent, disappearing within 24 to 48 hours. The temporary raised bubble of taut skin on the site of a properly-delivered intradermal injection is also called a welt, with the ID injection process itself frequently referred to as simply "raising a wheal" in medical texts.[10]
* Telangiectasia: A telangiectasia represents an enlargement of superficial blood vessels to the point of being visible.[29]
* Burrow: A burrow appears as a slightly elevated, grayish, tortuous line in the skin, and is caused by burrowing organisms.[29][30]
### Secondary lesions[edit]
* Scale: dry or greasy laminated masses of keratin[30] that represent thickened stratum corneum.[29]
* Crust: dried sebum, pus, or blood usually mixed with epithelial and sometimes bacterial debris.[10]
* Lichenification: epidermal thickening characterized by visible and palpable thickening of the skin with accentuated skin markings.[1]
* Erosion: An erosion is a discontinuity of the skin exhibiting incomplete loss of the epidermis,[32] a lesion that is moist, circumscribed, and usually depressed.[21][33]
* Excoriation: a punctate or linear abrasion produced by mechanical means (often scratching), usually involving only the epidermis, but commonly reaching the papillary dermis.[30][33]
* Ulcer: An ulcer is a discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.[32][33]
* Fissure: A fissure is a crack in the skin that is usually narrow but deep.[29][33]
* Induration: dermal thickening causing the cutaneous surface to feel thicker and firmer.[29]
* Atrophy: refers to a loss of tissue, and can be epidermal, dermal, or subcutaneous.[30] With epidermal atrophy, the skin appears thin, translucent, and wrinkled.[29] Dermal or subcutaneous atrophy is represented by depression of the skin.[29]
* Maceration: softening and turning white of the skin due to being consistently wet.
* Umbilication: formation of a depression at the top of a papule, vesicle, or pustule.[34]
* Phyma: A tubercle on any external part of the body, such as in phymatous rosacea
### Configuration[edit]
"Configuration" refers to how lesions are locally grouped ("organized"), which contrasts with how they are distributed (see next section).
* Agminate: in clusters
* Annular or circinate: ring-shaped
* Arciform or arcuate: arc-shaped
* Digitate: with finger-like projections
* Discoid or nummular: round or disc-shaped
* Figurate: with a particular shape
* Guttate: resembling drops
* Gyrate: coiled or spiral-shaped
* Herpetiform: resembling herpes
* Linear
* Mammillated: with rounded, breast-like projections
* Reticular or reticulated: resembling a net
* Serpiginous: with a wavy border
* Stellate: star-shaped
* Targetoid: resembling a bullseye
* Verrucous: wart-like
### Distribution[edit]
"Distribution" refers to how lesions are localized. They may be confined to a single area (a patch) or may exist in several places. Some distributions correlate with the means by which a given area becomes affected. For example, contact dermatitis correlates with locations where allergen has elicited an allergic immune response. Varicella zoster virus is known to recur (after its initial presentation as chicken pox) as herpes zoster ("shingles"). Chicken pox appears nearly everywhere on the body, but herpes zoster tends to follow one or two dermatomes; for example, the eruptions may appear along the bra line, on either or both sides of the patient.
* Generalized
* Symmetric: one side mirrors the other
* Flexural: on the front of the fingers
* Extensor: on the back of the fingers
* Intertriginous: in an area where two skin areas may touch or rub together
* Morbilliform: resembling measles
* Palmoplantar: on the palm of the hand or bottom of the foot
* Periorificial: around an orifice such as the mouth
* Periungual/subungual: around or under a fingernail or toenail
* Blaschkoid: following the path of Blaschko's lines in the skin
* Photodistributed: in places where sunlight reaches
* Zosteriform or dermatomal: associated with a particular nerve
### Other related terms[edit]
* Collarette
* Comedo
* Confluent
* Eczema (a type of dermatitis)
* Evanescent (lasting less than 24 hours)
* Granuloma
* Livedo
* Purpura
* Erythema (redness)
* Horn (a cell type)
* Poikiloderma
## Histopathology[edit]
* Hyperkeratosis
* Parakeratosis
* Hypergranulosis
* Acanthosis
* Papillomatosis
* Dyskeratosis
* Acantholysis
* Spongiosis
* Hydropic swelling
* Exocytosis
* Vacuolization
* Erosion
* Ulceration
* Lentiginous
## References[edit]
1. ^ a b c d e f Miller, Jeffrey H.; Marks, James G. (2006). Lookingbill and Marks' Principles of Dermatology. Saunders. ISBN 1-4160-3185-5.
2. ^ Lippens, S; Hoste, E; Vandenabeele, P; Agostinis, P; Declercq, W (April 2009). "Cell death in the skin". Apoptosis. 14 (4): 549–69. doi:10.1007/s10495-009-0324-z. PMID 19221876.
3. ^ King, L.S. (1954). "What Is Disease?". Philosophy of Science. 21 (3): 193–203. doi:10.1086/287343.
4. ^ Bluefarb, Samuel M. (1984). Dermatology. Upjohn Co. ISBN 0-89501-004-6.
5. ^ a b c d Lynch, Peter J. (1994). Dermatology. Williams & Wilkins. ISBN 0-683-05252-7.
6. ^ Tilles G, Wallach D (1989). "[The history of nosology in dermatology]". Ann Dermatol Venereol (in French). 116 (1): 9–26. PMID 2653160.
7. ^ Lambert WC, Everett MA (October 1981). "The nosology of parapsoriasis". J. Am. Acad. Dermatol. 5 (4): 373–95. doi:10.1016/S0190-9622(81)70100-2. PMID 7026622.
8. ^ Jackson R (1977). "Historical outline of attempts to classify skin diseases". Can Med Assoc J. 116 (10): 1165–68. PMC 1879511. PMID 324589.
9. ^ Copeman PW (February 1995). "The creation of global dermatology". J R Soc Med. 88 (2): 78–84. PMC 1295100. PMID 7769599.
10. ^ a b c d e f g h i Wolff, Klaus; Johnson, Richard Allen; Suurmond, Richard (2005). Fitzpatrick's Color Atlas and Synopsis of Clinical Dermatology (5th ed.). McGraw-Hill Medical Pub. Division. ISBN 0-07-144019-4.
11. ^ Werner B (August 2009). "[Skin biopsy and its histopathologic analysis: Why? What for? How? Part I]". An Bras Dermatol (in Portuguese). 84 (4): 391–95. doi:10.1590/s0365-05962009000400010. PMID 19851671.
12. ^ Werner B (October 2009). "[Skin biopsy with histopathologic analysis: why? what for? how? part II]". An Bras Dermatol (in Portuguese). 84 (5): 507–13. doi:10.1590/S0365-05962009000500010. PMID 20098854.
13. ^ Xiaowei Xu; Elder, David A.; Rosalie Elenitsas; Johnson, Bernett L.; Murphy, George E. (2008). Lever's Histopathology of the Skin. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 978-0-7817-7363-8.
14. ^ Weedon's Skin Pathology, 2-Volume Set: Expert Consult – Online and Print. Edinburgh: Churchill Livingstone. 2009. ISBN 978-0-7020-3941-6.
15. ^ Alfageme, Fernando; Cerezo, Eugenio; Roustan, Gaston (April 2015). "Real-Time Elastography in Inflammatory Skin Diseases: A Primer". Ultrasound in Medicine & Biology. 41 (4): S82–S83. doi:10.1016/j.ultrasmedbio.2014.12.341.
16. ^ a b c d Burns, Tony; et al. (2006) Rook's Textbook of Dermatology CD-ROM. Wiley-Blackwell. ISBN 1-4051-3130-6.
17. ^ Paus R, Cotsarelis G (1999). "The biology of hair follicles". N Engl J Med. 341 (7): 491–97. doi:10.1056/NEJM199908123410706. PMID 10441606.
18. ^ Goldsmith, Lowell A. (1983). Biochemistry and physiology of the skin. Oxford University Press. ISBN 0-19-261253-0.
19. ^ Fuchs E (February 2007). "Scratching the surface of skin development". Nature. 445 (7130): 834–42. Bibcode:2007Natur.445..834F. doi:10.1038/nature05659. PMC 2405926. PMID 17314969.
20. ^ Fuchs E, Horsley V (April 2008). "More than one way to skin ". Genes Dev. 22 (8): 976–85. doi:10.1101/gad.1645908. PMC 2732395. PMID 18413712.
21. ^ a b c d e f Wolff, Klaus Dieter; et al. (2008). Fitzpatrick's Dermatology in General Medicine. McGraw-Hill Medical. ISBN 978-0-07-146690-5.
22. ^ "Skin Anatomy". Medscape. Retrieved 3 June 2013.
23. ^ Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
24. ^ a b c Rapini, Ronald P. (2005). Practical dermatopathology. Elsevier Mosby. ISBN 0-323-01198-5.
25. ^ Grant-Kels, JM (2007). Color Atlas of Dermatopathology (Dermatology: Clinical & Basic Science). Informa Healthcare. p. 163. ISBN 978-0-8493-3794-9.
26. ^ Ryan, T (1991). "Cutaneous Circulation". In Goldsmith, Lowell A (ed.). Physiology, biochemistry, and molecular biology of the skin (2nd ed.). New York: Oxford University Press. p. 1019. ISBN 0-19-505612-4.
27. ^ Swerlick, RA; Lawley, TJ (January 1993). "Role of microvascular endothelial cells in inflammation". J. Invest. Dermatol. 100 (1): 111S–115S. doi:10.1038/jid.1993.33. PMID 8423379.
28. ^ Rose, Lewis C. (1998-09-15). "Recognizing Neoplastic Skin Lesions: A Photo Guide". American Family Physician. 58 (4): 873–84, 887–8. PMID 9767724. Retrieved 3 June 2013.
29. ^ a b c d e f g h i j k l m Callen, Jeffrey (2000). Color atlas of dermatology. Philadelphia: W.B. Saunders. ISBN 0-7216-8256-1.
30. ^ a b c d e f g h i j k l m n James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
31. ^ a b Elsevier, Dorland's Illustrated Medical Dictionary, Elsevier.
32. ^ a b Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. ISBN 0-7216-0187-1.
33. ^ a b c d Copstead, Lee-Ellen C.; Diestelmeier, Ruth E.; Diestelmeier, Michael R. (2016-09-03). "Alterations in the Integumentary System". Basicmedical Key. Retrieved 2019-07-01.
34. ^ "Description of Skin Lesions". The Merck Manual. Retrieved 3 June 2013.
## External links[edit]
Classification
D
* MeSH: D012871
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
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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
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*[LUX]: Luxembourg
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*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Skin condition
|
c0037277
| 7,147 |
wikipedia
|
https://en.wikipedia.org/wiki/Skin_condition
| 2021-01-18T18:59:27 |
{"mesh": ["D012871", "D012873"], "umls": ["C0037277", "C0037274", "C0029574"], "icd-10": ["L98.9"], "wikidata": ["Q949302"]}
|
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome-5 (OFD5) is caused by homozygous mutation in the DDX59 gene (615464) on chromosome 1q32.
Clinical Features
Rischbieth (1910) pictured a Hindu patient with postaxial polydactyly and median cleft of the upper lip. His brother was identically affected. Thurston (1909) had earlier reported these brothers. The brothers had median cleft of the vermilion of the upper lip and postaxial polydactyly of the hands and feet. Rischbieth cited the family of Roux (1847) in which the father had unilateral harelip and 6 digits on all 4 limbs, whereas the son had double harelip and the same deformity of hands and feet. Khoo and Saad (1980) described the case of a 26-year-old male nurse of Indian descent. The proband for Thurston (1909) was a 20-year-old recruit for the Bengal police. Yet another case in an Indian male was reported by Gopalakrishna and Thatte (1982).
Munke et al. (1990) noted oral frenula as a finding in Thurston syndrome.
Shamseldin et al. (2013) studied 2 consanguineous multiplex Arab families with orofaciodigital syndrome. All affected individuals exhibited the core features of cleft palate, lobulated tongue, and polydactyly; all also had frontal bossing and intellectual disability. In published photographs, the polydactyly was postaxial, and a subtle midline lip defect was illustrated. In 1 family, 2 affected individuals also had cardiac anomalies, including tetralogy of Fallot (TOF) and ventricular septal defect; additional anomalies in the patient with TOF included scoliosis, fused kidneys, and agenesis of the corpus callosum. One of the 4 affected individuals in the other family also exhibited Hirschsprung disease.
Inheritance
Munke et al. (1990) considered the mode of inheritance to be autosomal recessive.
Mapping
In 2 consanguineous multiplex Arab families with orofaciodigital syndrome, Shamseldin et al. (2013) performed autozygosity mapping and identified a shared minimal interval at chromosome 1q32.1 (chr1:197,262,220-201,811,027). Linkage analysis yielded a single peak, on chromosome 1, with a lod score of 5.8.
Molecular Genetics
In an affected individual from each of 2 consanguineous multiplex Arab families with orofaciodigital syndrome mapping to chromosome 1q32.1, Shamseldin et al. (2013) performed exome sequencing and identified homozygosity for different missense variants in the DDX59 gene (V367G, 615464.0001; G534R, 615464.0002). The mutations segregated with disease in each family and neither was found in 300 ethnically matched exomes or 200 ethnically matched controls. Shamseldin et al. (2013) sequenced the DDX59 gene in 4 more simplex OFD patients but did not detect any pathogenic mutations.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Frontal bossing Eyes \- Hypertelorism Mouth \- Lobulated tongue \- Cleft palate (in some patients) \- Midline lip defect, subtle (in some patients) \- Bifid uvula (in some patients) \- Duplicated frenulum (in some patients) CARDIOVASCULAR Heart \- Tetralogy of Fallot (rare) Ventricular septal defect (rare) ABDOMEN Gastrointestinal \- Hirschsprung disease (rare) GENITOURINARY Kidneys \- Fused kidneys (rare) SKELETAL Spine \- Scoliosis (rare) Hands \- Postaxial polydactyly Feet \- Postaxial polydactyly NEUROLOGIC Central Nervous System \- Intellectual disability \- Agenesis of the corpus callosum (in some patients) MOLECULAR BASIS \- Caused by mutation in the dead box polypeptide 59 gene (DDX59, 615464.0001 ) ▲ 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
|
OROFACIODIGITAL SYNDROME V
|
c1868118
| 7,148 |
omim
|
https://www.omim.org/entry/174300
| 2019-09-22T16:36:03 |
{"doid": ["0060375"], "mesh": ["C557819"], "omim": ["174300"], "orphanet": ["2919"], "synonyms": ["Alternative titles", "OFDS V", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE V", "OROFACIODIGITAL SYNDROME, THURSTON TYPE", "THURSTON SYNDROME", "POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP"]}
|
Double vision
"Double vision" redirects here. For other uses, see Double vision (disambiguation).
Diplopia
Other namesDouble vision
One way a person might experience double vision
SpecialtyNeurology, ophthalmology
Diplopia is the simultaneous perception of two images of a single object that may be displaced horizontally, vertically, diagonally (i.e., both vertically and horizontally), or rotationally in relation to each other.[1] Also called double vision, it is a loss of visual focus under regular conditions, and is often voluntary. However, when occurring involuntarily, it results in impaired function of the extraocular muscles, where both eyes are still functional, but they cannot turn to target the desired object.[2] Problems with these muscles may be due to mechanical problems, disorders of the neuromuscular junction, disorders of the cranial nerves (III, IV, and VI) that innervate the muscles, and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins.[3]
Diplopia can be one of the first signs of a systemic disease, particularly to a muscular or neurological process,[4] and it may disrupt a person's balance, movement, or reading abilities.[2][5]
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Classification
* 2.1.1 Binocular
* 2.1.2 Monocular
* 2.1.3 Temporary
* 2.1.4 Voluntary
* 3 Treatment
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## Causes[edit]
Diplopia has a diverse range of ophthalmologic, infectious, autoimmune, neurological, and neoplastic causes:
* Abscess
* Aniseikonia
* Anisometropia
* Antipsychotics (haloperidol, fluphenazine, chlorpromazine etc.)
* Atypical parkinsonisms, especially multiple system atrophy and progressive supranuclear palsy
* Botulism
* Brain tumor
* Cannabis
* Cancer
* Damaged third, fourth, or sixth cranial nerves, which control eye movements
* Cataract
* Diabetes
* Drunkenness
* Fluoroquinolone antibiotics[6]
* Graves disease
* Guillain–Barré syndrome
* Lasik complications
* Keratoconus
* Lyme disease
* Migraine headaches
* Multiple sclerosis
* Myasthenia gravis[7]
* Opioids
* Orbital myositis
* Trauma
* Salicylism
* Sinusitis
* Strabismus
* Wernicke's syndrome
* Increased intracranial pressure (compressing the sixth cranial nerve results in diplopia)
## Diagnosis[edit]
Diplopia is diagnosed mainly by information from the patient. Doctors may use blood tests, physical examinations, computed tomography (CT), or magnetic resonance imaging (MRI) to find the underlying cause.[8]
### Classification[edit]
One of the first steps in diagnosing diplopia is often to see whether one of two major classifications may be eliminated; both may be present. That involves blocking one eye to see which symptoms are evident in each eye alone.[9]
#### Binocular[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (November 2020) (Learn how and when to remove this template message)
Binocular diplopia is double vision arising as a result of strabismus (in layman's terms "cross-eyed"), the misalignment of the two eyes relative to each other, either esotropia (inward) or exotropia (outward). In such a case while the fovea of one eye is directed at the object of regard, the fovea of the other is directed elsewhere, and the image of the object of regard falls on an extrafoveal area of the retina.
The brain calculates the visual direction of an object based upon the position of its image relative to the fovea. Images falling on the fovea are seen as being directly ahead, while those falling on retina outside the fovea may be seen as above, below, right, or left of straight ahead depending upon the area of retina stimulated. Thus, when the eyes are misaligned, the brain perceives two images of one target object, as the target object simultaneously stimulates different, noncorresponding, retinal areas in either eye, thus producing double vision.
This correlation of particular areas of the retina in one eye with the same areas in the other is known as retinal correspondence. This relationship also gives rise to an associated phenomenon of binocular diplopia, although one that is rarely noted by those experiencing diplopia. Because the fovea of one eye corresponds to the fovea of the other, images falling on the two foveae are projected to the same point in space. Thus, when the eyes are misaligned, two different objects will be perceived as superimposed in the same space. This phenomenon is known as visual confusion'.
The brain naturally guards against double vision. In an attempt to avoid double vision, the brain can sometimes ignore the image from one eye, a process known as suppression. The ability to suppress is to be found particularly in childhood when the brain is still developing. Thus, those with childhood strabismus almost never complain of diplopia, while adults who develop strabismus almost always do. While this ability to suppress might seem an entirely positive adaptation to strabismus, in the developing child, this can prevent the proper development of vision in the affected eye, resulting in amblyopia. Some adults are also able to suppress their diplopia, but their suppression is rarely as deep or as effective and takes much longer to establish, thus they are not at risk of permanently compromising their vision. In some cases, diplopia disappears without medical intervention, but in other cases, the cause of the double vision may still be present.
Certain persons with diplopia who cannot achieve fusion and yet do not suppress may display a certain type of spasm-like irregular movement of the eyes in the vicinity of the fixation point (see: Horror fusionis).
#### Monocular[edit]
Diplopia can also occur when viewing with only one eye; this is called monocular diplopia, or where the patient perceives more than two images, monocular polyopia. While serious causes rarely may be behind monocular diplopia symptoms, this is much less often the case than with binocular diplopia.[9] The differential diagnosis of multiple image perception includes the consideration of such conditions as corneal surface keratoconus, subluxation of the lens, a structural defect within the eye, a lesion in the anterior visual cortex, or nonorganic conditions, but diffraction-based (rather than geometrical) optical models have shown that common optical conditions, especially astigmatism, can also produce this symptom.[10]
#### Temporary[edit]
Temporary binocular diplopia can be caused by alcohol intoxication or head injuries, such as concussion (if temporary double vision does not resolve quickly, one should see an optometrist or ophthalmologist immediately). It can also be a side effect of benzodiazepines or opioids, particularly if used in larger doses for recreation, the antiepileptic drugs phenytoin and zonisamide, and the anticonvulsant drug lamotrigine, as well as the hypnotic drug zolpidem and the dissociative drugs ketamine and dextromethorphan. Temporary diplopia can also be caused by tired or strained eye muscles. If diplopia appears with other symptoms such as fatigue and acute or chronic pain, the patient should see an ophthalmologist immediately.
#### Voluntary[edit]
Some people are able to consciously uncouple their eyes, either by overfocusing closely (i.e. going cross-eyed) or unfocusing. Also, while looking at one object behind another object, the foremost object's image is doubled (for example, placing one's finger in front of one's face while reading text on a computer monitor). In this sense, double vision is neither dangerous nor harmful, and may even be enjoyable. It makes viewing stereograms possible.[11]
Monocular diplopia may be induced in many individuals, even those with normal eyesight, with simple defocusing experiments involving fine, high-contrast lines.[10]
## Treatment[edit]
The appropriate treatment for binocular diplopia depends upon the cause of the condition producing the symptoms. Efforts must first be made to identify and treat the underlying cause of the problem. Treatment options include eye exercises,[2] wearing an eye patch on alternative eyes,[2] prism correction,[12] and in more extreme situations, surgery[5] or botulinum toxin.[13]
If diplopia turns out to be intractable, it can be managed as last resort by obscuring part of the patient's field of view. This approach is outlined in the article on diplopia occurring in association with a condition called horror fusionis.
It is possible to cure it with glasses.
## See also[edit]
* Binocular vision
* Monocular rivalry
* Orthoptics
## References[edit]
1. ^ Cassin, B. & Solomon, S. (1990) Dictionary of Eye Terminology. Gainesville, Florida: Triad Publishing Company
2. ^ a b c d O'Sullivan, S.B & Schmitz, T.J. (2007). Physical Rehabilitation. Philadelphia, PA: Davis. ISBN 978-0-8036-1247-1.
3. ^ Blumenfeld, Hal (2010). Neuroanatomy through Clinical Cases. Sunderland MA: Sinauer. ISBN 978-0-87893-058-6.
4. ^ Rucker, JC. (2007). "Oculomotor disorders". Semin Neurol. 27 (3): 244–56. doi:10.1055/s-2007-979682. PMID 17577866.
5. ^ a b Kernich, C.A. (2006). "Diplopia". The Neurologist. 12 (4): 229–230. doi:10.1097/01.nrl.0000231927.93645.34. PMID 16832242.
6. ^ Fraunfelder FW, Fraunfelder FT (September 2009). "Diplopia and fluoroquinolones". Ophthalmology. 116 (9): 1814–7. doi:10.1016/j.ophtha.2009.06.027. PMID 19643481.
7. ^ "Diplopia - Eye Disorders - Merck Manuals Professional Edition". merck.com. Retrieved 27 March 2018.
8. ^ "An Overview of Double Vision". WebMD. Retrieved 2018-09-23.
9. ^ a b Karmel, Miriam (November 2009), "Deciphering Diplopia", EyeNet, archived from the original on March 16, 2016
10. ^ a b Steven M. Archer, MD (December 2007), "Monocular Diplopia Due To Spherocylindrical Refractive Errors", Trans Am Ophthalmol Soc., 105: 252–271, PMC 2258122, PMID 18427616
11. ^ http://www.focusillusion.com/Instructions/ Instructions on how to view stereograms such as magic eye
12. ^ Phillips PH. (2007). "Treatment of diplopia". Semin Neurol. 27 (3): 288–98. doi:10.1055/s-2007-979680. PMID 17577869.
13. ^ Taub, M.B. (2008). "Botulinum toxin represents a new approach to managing diplopia cases that do not resolve". Journal of the American Optometric Association. 79 (4): 174–175. doi:10.1016/j.optm.2008.01.003.
## Further reading[edit]
* Fraine L (2012). "Nonsurgical management of diplopia". The American Orthoptic Journal. 62: 13–8. doi:10.3368/aoj.62.1.13. PMID 23002469.
## External links[edit]
Classification
D
* ICD-10: H53.2
* ICD-9-CM: 368.2
* MeSH: D004172
* DiseasesDB: 31225
External resources
* eMedicine: oph/191
* Deciphering Diplopia
* How to adjust binoculars with double vision
Look up diplopia in Wiktionary, the free dictionary.
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Diplopia
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Infection that is acquired in a hospital or other health care facility
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Nosocomial infection
Other namesHAI (Healthcare-Associated Infections)
Contaminated surfaces increase cross-transmission
SpecialtyInfectious disease
A Hospital-acquired infection also known as a nosocomial infection, is an infection that is acquired in a hospital or other health care facility. [1] To emphasize both hospital and nonhospital settings, it is sometimes instead called a healthcare–associated infection.[2] Such an infection can be acquired in hospital, nursing home, rehabilitation facility, outpatient clinic, diagnostic laboratory or other clinical settings. Infection is spread to the susceptible patient in the clinical setting by various means. Health care staff also spread infection, in addition to contaminated equipment, bed linens, or air droplets. The infection can originate from the outside environment, another infected patient, staff that may be infected, or in some cases, the source of the infection cannot be determined. In some cases the microorganism originates from the patient's own skin microbiota, becoming opportunistic after surgery or other procedures that compromise the protective skin barrier. Though the patient may have contracted the infection from their own skin, the infection is still considered nosocomial since it develops in the health care setting.
In the United States, the Centers for Disease Control and Prevention estimated that roughly 1.7 million Healthcare-Associated infections, from all types of microorganisms, including bacteria and fungi combined, cause or contribute to 99,000 deaths each year.[3] In Europe, where hospital surveys have been conducted, the category of gram-negative infections are estimated to account for two-thirds of the 25,000 deaths each year.[4] Nosocomial infections can cause severe pneumonia and infections of the urinary tract, bloodstream and other parts of the body.[5][6] Many types display antimicrobial resistance, which can complicate treatment.
## Contents
* 1 Types
* 1.1 Organisms
* 2 Cause
* 2.1 Transmission
* 3 Prevention
* 3.1 Sterilization
* 3.2 Isolation
* 3.3 Handwashing
* 3.4 Gloves
* 3.5 Surface sanitation
* 3.6 Antimicrobial surfaces
* 4 Treatment
* 5 Epidemiology
* 5.1 Belgium
* 5.2 France
* 5.3 Finland
* 5.4 Italy
* 5.5 Switzerland
* 5.6 United Kingdom
* 5.7 United States
* 6 History
* 7 See also
* 8 References
* 9 External links
## Types[edit]
* Hospital-acquired pneumonia
* Ventilator-associated pneumonia
* Urinary tract infection
* Gastroenteritis
* Puerperal fever
* Central line-associated blood stream infection
### Organisms[edit]
* Staphylococcus aureus
* Methicillin resistant Staphylococcus aureus[7]
* Candida albicans[7]
* Pseudomonas aeruginosa[7]
* Acinetobacter baumannii'[7]
* Stenotrophomonas maltophilia
* Clostridium difficile
* Escherichia coli[7]
* Tuberculosis
* Vancomycin-resistant Enterococcus
* Legionnaires' disease
## Cause[edit]
### Transmission[edit]
In-dwelling catheters have recently been identified with hospital acquired infections.[8] To deal with this complication procedures are used, called intravascular antimicrobial lock therapy that can reduce infections that are unexposed to blood-borne antibiotics.[9] Introducing antibiotics, including ethanol, into the catheter (without flushing it into the bloodstream) reduces the formation of biofilms.[7]
Main routes of transmission Route Description
Contact transmission The most important and frequent mode of transmission of nosocomial infections is by direct contact.
Droplet transmission Transmission occurs when droplets containing microbes from the infected person are propelled a short distance through the air and deposited on the patient's body; droplets are generated from the source person mainly by coughing, sneezing, and talking, and during the performance of certain procedures, such as bronchoscopy.
Airborne transmission Dissemination can be either airborne droplet nuclei (small-particle residue {5 µm or smaller in size} of evaporated droplets containing microorganisms that remain suspended in the air for long periods of time) or dust particles containing the infectious agent. Microorganisms carried in this manner can be dispersed widely by air currents and may become inhaled by a susceptible host within the same room or over a longer distance from the source patient, depending on environmental factors; therefore, special air-handling and ventilation are required to prevent airborne transmission. Microorganisms transmitted by airborne transmission include Legionella, Mycobacterium tuberculosis and the rubeola and varicella viruses.
Common vehicle transmission This applies to microorganisms transmitted to the host by contaminated items, such as food, water, medications, devices, and equipment.
Vector borne transmission This occurs when vectors such as mosquitoes, flies, rats, and other vermin transmit microorganisms.
Contact transmission is divided into two subgroups: direct-contact transmission and indirect-contact transmission.
Routes of contact transmission Route Description
Direct-contact transmission This involves a direct body surface-to-body surface contact and physical transfer of microorganisms between a susceptible host and an infected or colonized person, such as when a person turns a patient, gives a patient a bath, or performs other patient-care activities that require direct personal contact. Direct-contact transmission also can occur between two patients, with one serving as the source of the infectious microorganisms and the other as a susceptible host.
Indirect-contact transmission This involves contact of a susceptible host with a contaminated intermediate object, usually inanimate, such as contaminated instruments, needles, or dressings, or contaminated gloves that are not changed between patients. In addition, the improper use of saline flush syringes, vials, and bags has been implicated in disease transmission in the US, even when healthcare workers had access to gloves, disposable needles, intravenous devices, and flushes.[10]
## Prevention[edit]
Controlling nosocomial infection is to implement QA/QC measures to the health care sectors, and evidence-based management can be a feasible approach. For those with ventilator-associated or hospital-acquired pneumonia, controlling and monitoring hospital indoor air quality needs to be on agenda in management,[11] whereas for nosocomial rotavirus infection, a hand hygiene protocol has to be enforced.[12][13][14]
To reduce the number of hospital-acquired infections, the state of Maryland implemented the Maryland Hospital-Acquired Conditions Program that provides financial rewards and penalties for individual hospitals. An adaptation of the Centers for Medicare & Medicaid Services payment policy causes poor-performing hospitals to lose up to 3% of their inpatient revenues, whereas hospitals that are able to decrease hospital-acquired infections can earn up to 3% in rewards. During the program's first two years, complication rates fell by 15.26% across all hospital-acquired conditions tracked by the state (including those not covered by the program), from a risk-adjusted complication rate of 2.38 per 1,000 people in 2009 to a rate of 2.02 in 2011. The 15.26% decline translates into more than $100 million in cost savings for the health care system in Maryland, with the largest savings coming from avoidance of urinary tract infections, sepsis and other severe infections, and pneumonia and other lung infections. If similar results could be achieved nationwide, the Medicare program would save an estimated $1.3 billion over two years, while the US health care system as a whole would save $5.3 billion.[15]
Hospitals have sanitation protocols regarding uniforms, equipment sterilization, washing, and other preventive measures. Thorough hand washing and/or use of alcohol rubs by all medical personnel before and after each patient contact is one of the most effective ways to combat nosocomial infections.[16] More careful use of antimicrobial agents, such as antibiotics, is also considered vital.[17] As many hospital-acquired infections caused by bacteria such as methicillin-resistant Staphylococcus aureus, methicillin-susceptible Staphylococcus aureus, and Clostridium difficile are caused by a breach of these protocols, it is common that affected patients make medical negligence claims against the hospital in question.[18]
Despite sanitation protocol, patients cannot be entirely isolated from infectious agents. Furthermore, patients are often prescribed antibiotics and other antimicrobial drugs to help treat illness; this may increase the selection pressure for the emergence of resistant strains.[19]
### Sterilization[edit]
Sterilization goes further than just sanitizing. It kills all microorganisms on equipment and surfaces through exposure to chemicals, ionizing radiation, dry heat, or steam under pressure. Lately, steam sterilization of single-use implants have been questioned by US researchers who discovered contaminants and bacteria on single-use implants that have been repeated reprocessed in bulk before surgery. They suggested use of gamma-sterilization of implants, and providing implants in a single ready-to-use package to avoid repeated reprocessing of bulk implants for each surgery. The same concern was raised by Scottish Health Department more than a decade ago, and as a result Scottish hospitals underwent transition from steam sterilization of bulk implants to gamma sterilization of individually packaged implants. A petition has been filed by the reputable health science researcher Aakash Agarwal to ban steam sterilization of implants in US, requesting FDA to transition into a one-time gamma sterilization of single use implants.[20][21][22][23]
### Isolation[edit]
Main article: Isolation (health care)
Isolation is the implementation of isolating precautions designed to prevent transmission of microorganisms by common routes in hospitals. (See Universal precautions and Transmission-based precautions.) Because agent and host factors are more difficult to control, interruption of transfer of microorganisms is directed primarily at transmission for example isolation of infectious cases in special hospitals and isolation of patient with infected wounds in special rooms also isolation of joint transplantation patients on specific rooms.
### Handwashing[edit]
Handwashing frequently is called the single most important measure to reduce the risks of transmitting skin microorganisms from one person to another or from one site to another on the same patient. Washing hands as promptly and thoroughly as possible between patient contacts and after contact with blood, body fluids, secretions, excretions, and equipment or articles contaminated by them is an important component of infection control and isolation precautions. The spread of nosocomial infections, among immunocompromised patients is connected with health care workers' hand contamination in almost 40% of cases, and is a challenging problem in the modern hospitals. The best way for workers to overcome this problem is conducting correct hand-hygiene procedures; this is why the WHO launched in 2005 the GLOBAL Patient Safety Challenge.[24] Two categories of micro-organisms can be present on health care workers' hands: transient flora and resident flora. The first is represented by the micro-organisms taken by workers from the environment, and the bacteria in it are capable of surviving on the human skin and sometimes to grow. The second group is represented by the permanent micro-organisms living on the skin surface (on the stratum corneum or immediately under it). They are capable of surviving on the human skin and to grow freely on it. They have low pathogenicity and infection rate, and they create a kind of protection from the colonization from other more pathogenic bacteria. The skin of workers is colonized by 3.9 x 104 – 4.6 x 106 cfu/cm2. The microbes comprising the resident flora are: Staphylococcus epidermidis, Staphylococcus hominis, and Microccocus, Propionibacterium, Corynebacterium, Dermobacterium, and Pitosporum spp., while transient organisms are Staphylococcus aureus, and Klebsiella pneumoniae, and Acinetobacter, Enterobacter and Candida spp. The goal of hand hygiene is to eliminate the transient flora with a careful and proper performance of hand washing, using different kinds of soap, (normal and antiseptic), and alcohol-based gels. The main problems found in the practice of hand hygiene is connected with the lack of available sinks and time-consuming performance of hand washing. An easy way to resolve this problem could be the use of alcohol-based hand rubs, because of faster application compared to correct hand-washing.[25]
Improving patient hand washing has also been shown to reduce the rate of nosocomial infection. Patients who are bed-bound often do not have as much access to clean their hands at mealtimes or after touching surfaces or handling waste such as tissues. By reinforcing the importance of handwashing and providing sanitizing gel or wipes within reach of the bed, nurses were directly able to reduce infection rates. A study published in 2017 demonstrated this by improving patient education on both proper hand-washing procedure and important times to use sanitizer and successfully reduced the rate of enterococci and Staphylococcus aureus.[26]
All visitors must follow the same procedures as hospital staff to adequately control the spread of infections. Moreover, multidrug-resistant infections can leave the hospital and become part of the community flora if steps are not taken to stop this transmission.
It is unclear whether or not nail polish or rings affected surgical wound infection rates.[27]
### Gloves[edit]
In addition to hand washing, gloves play an important role in reducing the risks of transmission of microorganisms. Gloves are worn for three important reasons in hospitals. First, they are worn to provide a protective barrier for personnel, preventing large scale contamination of the hands when touching blood, body fluids, secretions, excretions, mucous membranes, and non-intact skin. In the United States, the Occupational Safety and Health Administration has mandated wearing gloves to reduce the risk of bloodborne pathogen infections.[28] Second, gloves are worn to reduce the likelihood that microorganisms present on the hands of personnel will be transmitted to patients during invasive or other patient-care procedures that involve touching a patient's mucous membranes and nonintact skin. Third, they are worn to reduce the likelihood that the hands of personnel contaminated with micro-organisms from a patient or a fomite can transmit those micro-organisms to another patient. In this situation, gloves must be changed between patient contacts, and hands should be washed after gloves are removed.
Wearing gloves does not replace the need for handwashing due to the possibility of contamination when gloves are replaced, or by damage to the glove. Doctors wearing the same gloves for multiple patient operations presents an infection control hazard.[29] Furthermore, gloves get contaminated during surgical site preparation and the latest multicenter clinical trial led by Aakash Agarwal and his team of researchers have shown that implants should be guarded inside the sterile field to avoid direct contact between the gloves and the implantable device. This method of guarding implants intraoperatively avoids transfer of bacteria from the gloves, air, and contaminated surfaces to the patients (through the implants as vectors).[30][31][32][33][34]
### Surface sanitation[edit]
Sanitizing surfaces is part of nosocomial infection in health care environments. Modern sanitizing methods such as Non-flammable Alcohol Vapor in Carbon Dioxide systems have been effective against gastroenteritis, methicillin-resistant Staphylococcus aureus, and influenza agents. Use of hydrogen peroxide vapor has been clinically proven to reduce infection rates and risk of acquisition. Hydrogen peroxide is effective against endospore-forming bacteria, such as Clostridium difficile, where alcohol has been shown to be ineffective.[35][non-primary source needed] Ultraviolet cleaning devices may also be used to disinfect the rooms of patients infected with Clostridium difficile or methicillin-resistant Staphylococcus aureus after discharge.[36][non-primary source needed]
### Antimicrobial surfaces[edit]
Micro-organisms are known to survive on inanimate ‘touch’ surfaces for extended periods of time.[37] This can be especially troublesome in hospital environments where patients with immunodeficiencies are at enhanced risk for contracting nosocomial infections.
Touch surfaces commonly found in hospital rooms, such as bed rails, call buttons, touch plates, chairs, door handles, light switches, grab rails, intravenous poles, dispensers (alcohol gel, paper towel, soap), dressing trolleys, and counter and table tops are known to be contaminated with Staphylococcus, methicillin-resistant Staphylococcus aureus (one of the most virulent strains of antibiotic-resistant bacteria) and vancomycin-resistant Enterococcus.[38] Objects in closest proximity to patients have the highest levels of methicillin-resistant Staphylococcus aureus and vancomycin-resistant Enterococcus. This is why touch surfaces in hospital rooms can serve as sources, or reservoirs, for the spread of bacteria from the hands of healthcare workers and visitors to patients.
A number of compounds can decrease the risk of bacteria growing on surfaces including: copper, silver, and germicides.[39]
There have been a number of studies evaluating the use of no-touch cleaning systems particularly the use of ultraviolet C devices. One review was inconclusive due to lack of, or of poor quality evidence.[40] Other reviews have found some evidence, and growing evidence of their effectiveness.[41][42]
## Treatment[edit]
Two of the bacteria species most likely to infect patients are the Gram-positive strains of methicillin-resistant Staphylococcus aureus, and Gram-negative Acinetobacter baumannii. While antibiotic drugs to treat diseases caused by methicillin-resistant Staphylococcus aureus are available, few effective drugs are available for Acinetobacter. Acinetobacter bacteria are evolving and becoming immune to antibiotics, so in many cases, polymyxin-type antibacterials need to be used. "In many respects it’s far worse than MRSA," said a specialist at Case Western Reserve University.[43]
Another growing disease, especially prevalent in New York City hospitals, is the drug-resistant, Gram-negative Klebsiella pneumoniae. An estimated more than 20% of the Klebsiella infections in Brooklyn hospitals "are now resistant to virtually all modern antibiotics, and those supergerms are now spreading worldwide."[43]
The bacteria, classified as Gram-negative because of their color on the Gram stain, can cause severe pneumonia and infections of the urinary tract, bloodstream, and other parts of the body. Their cell structures make them more difficult to attack with antibiotics than Gram-positive organisms like methicillin-resistant Staphylococcus aureus. In some cases, antibiotic resistance is spreading to Gram-negative bacteria that can infect people outside the hospital. "For gram-positives we need better drugs; for gram-negatives we need any drugs," said Dr. Brad Spellberg, an infectious-disease specialist at Harbor-UCLA Medical Center, and the author of Rising Plague, a book about drug-resistant pathogens.[43]
Hospital-acquired pneumonia (HAP) is the second most common nosocomial infection and accounts for approximately one-fourth of all infections in the intensive care unit (ICU).[44] HAP, or nosocomial pneumonia, is a lower respiratory infection that was not incubating at the time of hospital admission and that presents clinically 2 or more days after hospitalization.[45] Ventilator-associated pneumonia (VAP) is defined as HAP in patients receiving mechanical ventilation. The incidence of VAP is 10%-30% among patients who require mechanical ventilation for >48 h.[46] A standard treatment protocol is based on accurate diagnosis definitions, microbiological confirmation of VAP, and the administration of imipenem plus ciprofloxacin as initial empirical antibiotic treatment.[47]
One-third of nosocomial infections are considered preventable. The CDC estimates 2 million people in the United States are infected annually by hospital-acquired infections, resulting in 99,000 deaths.[48] The most common nosocomial infections are of the urinary tract, surgical site and various pneumonias.[49]
An alternative treatment targeting localised infections is the use of irradiation by ultraviolet C.[50]
## Epidemiology[edit]
The methods used differ from country to country (definitions used, type of nosocomial infections covered, health units surveyed, inclusion or exclusion of imported infections, etc.), so the international comparisons of nosocomial infection rates should be made with the utmost care.
### Belgium[edit]
In Belgium the prevalence of nosocomial infections is about 6.2%. Annually about 125,500 patients become infected by a nosocomial infection, resulting in almost 3000 deaths. The extra costs for the health insurance are estimated to be approximately €400 million/year.[51]
### France[edit]
Estimates ranged from 6.7% in 1990 to 7.4% (patients may have several infections).[52] At national level, prevalence among patients in health care facilities was 6.7% in 1996,[53] 5.9% in 2001[54] and 5.0% in 2006.[55] The rates for nosocomial infections were 7.6% in 1996, 6.4% in 2001 and 5.4% in 2006.
In 2006, the most common infection sites were urinary tract infections (30,3%), pneumopathy (14,7%), infections of surgery site (14,2%). Infections of the skin and mucous membrane (10,2%), other respiratory infections (6,8%) and bacterial infections / blood poisoning (6,4%).[56] The rates among adult patients in intensive care were 13,5% in 2004, 14,6% in 2005, 14,1% in 2006 and 14.4% in 2007.[57]
Nosocomial infections are estimated to make patients stay in the hospital four to five additional days. Around 2004–2005, about 9,000 people died each year with a nosocomial infection, of which about 4,200 would have survived without this infection.[58]
### Finland[edit]
Rate were estimated at 8.5% of patients in 2005.[59]
### Italy[edit]
Since 2000, estimates show about a 6.7% infection rate, i.e. between 450,000 and 700,000 patients, which caused between 4,500 and 7,000 deaths.[60] A survey in Lombardy gave a rate of 4.9% of patients in 2000.[61]
### Switzerland[edit]
Estimates range between 2 and 14%.[62] A national survey gave a rate of 7.2% in 2004.[63]
### United Kingdom[edit]
In 2012 the Health Protection Agency reported the prevalence rate of hospital-acquired infectionIs in England was 6.4% in 2011, against a rate of 8.2% in 2006.[64] with respiratory tract, urinary tract and surgical site infections the most common types of infections reported.[64] In 2018 it was reported that in-hospital infections had risen from 5,972 in 2008 to 48,815 in 2017. [65]
### United States[edit]
The Centers for Disease Control and Prevention (CDC) estimated roughly 1.7 million hospital-associated infections, from all types of bacteria combined, cause or contribute to 99,000 deaths each year.[66] Other estimates indicate 10%, or 2 million, patients a year become infected, with the annual cost ranging from $4.5 billion to $11 billion.[67] In the US, the most frequent type of infection hospital is urinary tract infection (36%), followed by surgical site infection (20%), and bloodstream infection and pneumonia (both 11%).[43][needs update]
## History[edit]
Mortality rates 1841–1846 in two clinics documented by Semmelweis
In 1841, Ignaz Semmelweis, a Hungarian obstetrician was working at a Vienna maternity hospital. He was "shocked" by the death rate of women who developed puerperal fever. He documented that mortality was three times higher in the ward where the medical students were delivering babies than in the next ward that was staffed by midwifery students.[68] The medical students were also routinely working with cadavers. He compared the rates of infection with a similar hospital in Dublin, Ireland and hypothesized that it was the medical students who somehow were infecting the women after labor. He instituted mandatory hand-washing in May 1847 and infection rates dropped dramatically. Louis Pasteur proposed the germ theory of disease and began his work on cholera in 1865 by identifying that it was microorganisms that were associated with disease.[69][70]
## See also[edit]
* Cubicle curtain
* ESKAPE
* Infection control
* Iatrogenesis
* NAV-CO2
* Phototherapy
* Sanitation Standard Operating Procedures
## References[edit]
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2. ^ "HAI Data and Statistics". cdc.gov. 2018-01-10. Retrieved 2018-01-13.
3. ^ Klevens, R. Monina; Edwards, Jonathan R.; Richards, Chesley L.; Horan, Teresa C.; Gaynes, Robert P; Pollock, Daniel A.; Cardo, Denise M. (2007). "Estimating Healthcare-associated Infections and Deaths in U.S. Hospitals, 2002". Public Health Reports. 122 (2): 160–166. doi:10.1177/003335490712200205. PMC 1820440. PMID 17357358.
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5. ^ Burke A Cunha (July 30, 2018). John L Brusch (ed.). "Hospital-Acquired Pneumonia (Nosocomial Pneumonia) and Ventilator-Associated Pneumonia: Overview, Pathophysiology, Etiology". Webscape.
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12. ^ Chan PC, Huang LM, Lin HC, et al. (April 2007). "Control of an outbreak of pandrug-resistant Acinetobacter baumannii colonization and infection in a neonatal intensive care unit". Infect Control Hosp Epidemiol. 28 (4): 423–9. doi:10.1086/513120. PMID 17385148.
13. ^ Traub-Dargatz JL, Weese JS, Rousseau JD, Dunowska M, Morley PS, Dargatz DA (July 2006). "Pilot study to evaluate 3 hygiene protocols on the reduction of bacterial load on the hands of veterinary staff performing routine equine physical examinations". Can. Vet. J. 47 (7): 671–6. PMC 1482439. PMID 16898109.
14. ^ Katz JD (September 2004). "Hand washing and hand disinfection: more than your mother taught you". Anesthesiol Clin North America. 22 (3): 457–71, vi. doi:10.1016/j.atc.2004.04.002. PMID 15325713.
15. ^ "Statewide, All-Payer Financial Incentives Significantly Reduce Hospital-Acquired Conditions in Maryland Hospitals". Agency for Healthcare Research and Quality. 2013-07-03. Retrieved 2013-07-06.
16. ^ McBryde ES, Bradley LC, Whitby M, McElwain DL (October 2004). "An investigation of contact transmission of methicillin-resistant Staphylococcus aureus". Journal of Hospital Infection. 58 (2): 104–8. doi:10.1016/j.jhin.2004.06.010. PMID 15474180.
17. ^ Lautenbach E (2001). "Chapter 14. Impact of Changes in Antibiotic Use Practices on Nosocomial Infections and Antimicrobial Resistance—Clostridium difficile and Vancomycin-resistant Enterococcus (VRE)". In Markowitz AJ (ed.). Making Health Care Safer: A Critical Analysis of Patient Safety Practices. Agency for Healthcare Research and Quality.
18. ^ "Hospital Negligence Claims". PatientClaimLine.com. Retrieved 2019-08-21.
19. ^ Kolár, M.; Urbánek, K.; Látal, T. (May 2001). "Antibiotic selective pressure and development of bacterial resistance". International Journal of Antimicrobial Agents. 17 (5): 357–363. doi:10.1016/S0924-8579(01)00317-X. ISSN 0924-8579. PMID 11337221.
20. ^ "The Different Methods of Sterilizing Medical Equipment". Gibraltar Laboratories. 2013-05-31. Retrieved 2018-12-06.
21. ^ "11 Investigates: Surgical implants raising contamination concerns". wtol.com. Retrieved 2020-07-28.
22. ^ "Ban 'Reprocessing' of Spinal Surgery Screws, Experts Say". Medscape. Retrieved 2020-07-28.
23. ^ Hudson, Jocelyn (2019-01-16). "Banned in the USA: Petition calls for FDA to prohibit reprocessed pedicle screws". Spinal News International. Retrieved 2020-07-28.
24. ^ World Alliance for patient safety. WHO Guidelines on Hand Hygiene in Health Care. http://www.who.int/rpc/guidelines/9789241597906/en/. 2009
25. ^ Hugonnet S, Perneger TV, Pittet D. Alcohol based hand rub improves compliance with hand hygiene in intensive care units. Arch Intern med 2002; 162: 1037-1043.
26. ^ Haverstick, Stacy; Goodrich, Cara; Freeman, Regi; James, Shandra; Kullar, Rajkiran; Ahrens, Melissa (June 2017). "Patients' Hand Washing and Reducing Hospital-Acquired Infection". Critical Care Nurse. 37 (3): e1–e8. doi:10.4037/ccn2017694. PMID 28572111.
27. ^ Arrowsmith, VA; Taylor, R (Aug 4, 2014). "Removal of nail polish and finger rings to prevent surgical infection". The Cochrane Database of Systematic Reviews (8): CD003325. doi:10.1002/14651858.CD003325.pub3. PMC 7163182. PMID 25089848.
28. ^ "Occupational Exposure to Bloodborne Pathogens;Needlestick and Other Sharps Injuries; Final Rule. - 66:5317-5325". Osha.gov. Retrieved 2011-07-11.
29. ^ Osterweil, Neil (June 19, 2016). "Bacteria Can Persist on Gloves, Transfer to Surfaces". Medscape.
30. ^ "Pedicle screw handling techniques "lead to contamination of screws"". Spinal News International. 2020-06-05. Retrieved 2020-07-29.
31. ^ Marshall, Suzie (2018-09-14). "Surgeons call for two-step asepsis process & a ban on pedicle screw reuse". Spinal News International. Retrieved 2020-07-29.
32. ^ Agarwal, Aakash; PhD; An, Neel; MD; Wang, Jeffrey C.; MD. "Reprocessing of Pedicle Screws and Exposure in Sterile-Field Leads to Infection in Spinal Surgery". SpineUniverse. Retrieved 2020-07-29.
33. ^ "The Hardest Decision Any Spine Surgeon Has to Make | Orthopedics This Week - Part 2". ryortho.com. Retrieved 2020-07-29.
34. ^ "Are Your Sterile Implants Really Sterile? | Orthopedics This Week". ryortho.com. Retrieved 2020-07-29.
35. ^ Otter JA, French GL (January 2009). "Survival of nosocomial bacteria and spores on surfaces and inactivation by hydrogen peroxide vapor". J. Clin. Microbiol. 47 (1): 205–7. doi:10.1128/JCM.02004-08. PMC 2620839. PMID 18971364.
36. ^ "Performance Feedback, Ultraviolet Cleaning Device, and Dedicated Housekeeping Team Significantly Improve Room Cleaning, Reduce Potential for Spread of Common, Dangerous Infection". Agency for Healthcare Research and Quality. 2014-01-15. Retrieved 2014-01-20.
37. ^ Wilks, S.A., Michels, H., Keevil, C.W., 2005, The Survival of Escherichia Coli O157 on a Range of Metal Surfaces, International Journal of Food Microbiology, Vol. 105, pp. 445–454. and Michels, H.T. (2006), Anti-Microbial Characteristics of Copper, ASTM Standardization News, October, pp. 28-31
38. ^ U.S. Department of Defense-funded clinical trials, as presented at the Interscience Conference on Antimicrobial Agents and Chemotherapy in Washington, D.C., October 28, 2008
39. ^ Weber, DJ; Rutala, WA (May 2013). "Self-disinfecting surfaces: review of current methodologies and future prospects". American Journal of Infection Control. 41 (5 Suppl): S31-5. doi:10.1016/j.ajic.2012.12.005. PMID 23622745.
40. ^ "Portable Ultraviolet Light Surface-Disinfecting Devices for Prevention of Hospital-Acquired Infections: A Health Technology Assessment". Ontario Health Technology Assessment Series. 18 (1): 1–73. 2018. PMC 5824029. PMID 29487629.
41. ^ Weber, DJ; Kanamori, H; Rutala, WA (August 2016). "'No touch' technologies for environmental decontamination: focus on ultraviolet devices and hydrogen peroxide systems". Current Opinion in Infectious Diseases. 29 (4): 424–31. doi:10.1097/QCO.0000000000000284. PMID 27257798.
42. ^ Weber, DJ; Rutala, WA; Anderson, DJ; Chen, LF; Sickbert-Bennett, EE; Boyce, JM (2 May 2016). "Effectiveness of ultraviolet devices and hydrogen peroxide systems for terminal room decontamination: Focus on clinical trials". American Journal of Infection Control. 44 (5 Suppl): e77-84. doi:10.1016/j.ajic.2015.11.015. PMC 7132689. PMID 27131140.
43. ^ a b c d Pollack, Andrew. "Rising Threat of Infections Unfazed by Antibiotics" New York Times, Feb. 27, 2010
44. ^ Antoni Torres, Miquel Ferrer, Joan Ramón Badia, Treatment Guidelines and Outcomes of Hospital-Acquired and Ventilator-Associated Pneumonia, Clinical Infectious Diseases, Volume 51, Issue Supplement_1, January-February 1988, Pages S48–S53, https://doi.org/10.1086/653049
45. ^ https://emedicine.medscape.com/article/234753-overview
46. ^ Torres A, Ewig S, Lode H, Carlet J. Defining, treating and preventing hospital acquired pneumonia: European perspective, Intensive Care Med, 2009, vol. 35 (pg. 9-29)
47. ^ Ibrahim EH, Ward S, Sherman G, Schaiff R, Fraser VJ, Kollef MH. Experience with a clinical guideline for the treatment of ventilator-associated pneumonia, Crit Care Med, 2001, vol. 29 (pg. 1109-1115)
48. ^ "99,000 Americans die of Healthcare-Acquired Infections Every Year". 2013-07-26.
49. ^ Klevens RM, Edwards JR, Richards CL, et al. (2007). "Estimating health care-associated infections and deaths in U.S. hospitals, 2002". Public Health Rep. 122 (2): 160–6. doi:10.1177/003335490712200205. PMC 1820440. PMID 17357358.
50. ^ Dai, T; Vrahas, MS; Murray, CK; Hamblin, MR (February 2012). "Ultraviolet C irradiation: an alternative antimicrobial approach to localized infections?". Expert Review of Anti-infective Therapy. 10 (2): 185–95. doi:10.1586/eri.11.166. PMC 3292282. PMID 22339192.
51. ^ Federaal Kenniscentrum voor de Gezondheidszorg (2009) Nosocomiale Infecties in België, deel II: Impact op Mortaliteit en Kosten. KCE-rapport 102A.
52. ^ Quenon JL, Gottot S, Duneton P, Lariven S, Carlet J, Régnier B, Brücker G. Enquête nationale de prévalence des infections nosocomiales en France : Hôpital Propre (octobre 1990). BEH n° 39/1993.
53. ^ Comité technique des infections nosocomiales (CTIN), Cellule infections nosocomiales, CClin Est, CClin Ouest, CClin Paris-Nord, CClin Sud-Est, CClin Sud-Ouest, avec la participation de 830 établissements de santé. Enquête nationale de prévalence des infections nosocomiales,1996, BEH n° 36/1997, 2 sept. 1997, 4 pp.. Résumé.
54. ^ Lepoutre A, Branger B, Garreau N, Boulétreau A, Ayzac L, Carbonne A, Maugat S, Gayet S, Hommel C, Parneix P, Tran B pour le Réseau d’alerte, d’investigation et de surveillance des infections nosocomiales (Raisin). Deuxième enquête nationale de prévalence des infections nosocomiales, France, 2001, Surveillance nationale des maladies infectieuses, 2001-2003. Institut de veille sanitaire, sept. 2005, 11 pp. Résumé.
55. ^ Institut de veille sanitaire Enquête nationale de prévalence des infections nosocomiales, France, juin 2006, Volume 1 – Méthodes, résultats, perspectives, mars 2009, ii + 81 pp. Volume 2 – Annexes, mars 2009, ii + 91 pp. Synthèse des résultats, Mars 2009, 11 pp.
56. ^ Institut de veille sanitaire Enquête nationale de prévalence des infections nosocomiales, France, juin 2006, Vol. 1, Tableau 31, p. 24.
57. ^ Réseau REA-Raisin « Surveillance des infections nosocomiales en réanimation adulte. France, résultats 2007 », Institut de veille sanitaire, Sept. 2009, ii + 60 pp.
58. ^ Vasselle, Alain « Rapport sur la politique de lutte contre les infections nosocomiales », Office parlementaire d'évaluation des politiques de santé, juin 2006, 290 pp. (III.5. Quelle est l’estimation de la mortalité attribuable aux IN ?).
59. ^ Lyytikainen O, Kanerva M, Agthe N, Mottonen T and the Finish Prevalence Survey Study Group. National Prevalence Survey on Nosocomial Infections in Finnish Acute Care Hospitals, 2005. 10th Epiet Scientific Seminar. Mahon, Menorca, Spain, 13–15 October 2005 [Poster].
60. ^ L'Italie scandalisée par "l'hôpital de l'horreur", Éric Jozsef, Libération, January 17, 2007 (in French)
61. ^ Liziolia A, Privitera G, Alliata E, Antonietta Banfi EM, Boselli L, Panceri ML, Perna MC, Porretta AD, Santini MG, Carreri V. Prevalence of nosocomial infections in Italy: result from the Lombardy survey in 2000. J Hosp Infect 2003;54:141-8.
62. ^ "Facts sheet - Swiss Hand Hygiene Campaign" (in French). Archived from the original (.doc) on 2007-09-30.
63. ^ Sax H, Pittet D (2005). "Résultats de l'enquête nationale de prévalence des infections nosocomiales de 2004 (snip04)". Swiss-NOSO (in French). 12 (1): 1–4. Archived from the original on November 11, 2007.
64. ^ a b "English National Point Prevalence Survey on Healthcare-associated Infections and Antimicrobial Use, 2011" (PDF). Health Protection Agency. Archived from the original (PDF) on 8 December 2015. Retrieved 28 November 2015.
65. ^ "Deadly hospital infections quadruple as staff struggle to fight superbugs". Daily Mirror. 24 October 2018. Retrieved 2 December 2018.
66. ^ Klevens, R Monina et al. "Estimating Health Care-associated Infections and Deaths in U.S. Hospitals, 2002." Public Health Reports 122.2 (2007): 160–166.
67. ^ Hospital-acquired infection (HAI) diagnostics market is forecasted to reach $4,386.6 million by 2023, growing at a CAGR of 7.6% during 2017–2023, P&S Intelligence
68. ^ Kadar N (January 2019). "Rediscovering Ignaz Philipp Semmelweis (1818-1865)". Am. J. Obstet. Gynecol. 220 (1): 26–39. doi:10.1016/j.ajog.2018.11.1084. PMID 30444981.
69. ^ Pommerville, Jeffrey (2014). Fundamentals of microbiology. Burlington, MA: Jones & Bartlett Learning. ISBN 9781449647964.
70. ^ Wyklicky, H.; Skopec, M. (Sep–Oct 1983). "Ignaz Philipp Semmelweis, the prophet of bacteriology". Infect Control. 4 (5): 367–70. doi:10.1017/S0195941700059762. PMID 6354955. Archived from the original on 2008-04-04. Retrieved 2015-11-28.
## External links[edit]
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* LCCN: sh85092770
* NDL: 00577173
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
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*[RUS]: Russia
*[LUX]: Luxembourg
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*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Hospital-acquired infection
|
c0205721
| 7,150 |
wikipedia
|
https://en.wikipedia.org/wiki/Hospital-acquired_infection
| 2021-01-18T18:41:50 |
{"mesh": ["D003428"], "umls": ["C0205721"], "icd-10": ["Y95"], "wikidata": ["Q215509"]}
|
Infective endocarditis
Other namesBacterial endocarditis
A mitral valve vegetation caused by bacterial endocarditis.
SpecialtyCardiology, Infectious disease
SymptomsFever, small areas of bleeding into the skin, heart murmur, feeling tired, low red blood cells[1]
ComplicationsValvular insufficiency, heart failure, stroke, kidney failure[1][2]
CausesBacterial infection, fungal infection[1]
Risk factorsValvular heart disease including rheumatic disease, congenital heart disease, artificial valves, hemodialysis, intravenous drug use, electronic pacemakers[3]
Diagnostic methodBased on symptoms, blood cultures, ultrasound[1]
TreatmentAntibiotics, heart surgery[1]
Prognosis25% risk of death[3]
Frequency5 per 100,000 per year[3]
Infective endocarditis is an infection of the inner surface of the heart, usually the valves.[1] Symptoms may include fever, small areas of bleeding into the skin, heart murmur, feeling tired, and low red blood cell count.[1] Complications may include backward blood flow in the heart, the heart struggling to pump a sufficient amount of blood to meet the body's needs (heart failure), abnormal electrical conduction in the heart, stroke, and kidney failure.[1][2]
The cause is typically a bacterial infection and less commonly a fungal infection.[1] Risk factors include valvular heart disease, including rheumatic disease, congenital heart disease, artificial valves, hemodialysis, intravenous drug use, and electronic pacemakers.[3] The bacteria most commonly involved are streptococci or staphylococci.[1] Diagnosis is suspected based on symptoms and supported by blood cultures or ultrasound of the heart.[1] There is also a noninfective form of endocarditis.[1]
The usefulness of antibiotics following dental procedures for prevention is unclear.[4] Some recommend them for people at high risk.[1] Treatment is generally with intravenous antibiotics.[1] The choice of antibiotics is based on the results of blood cultures.[1] Occasionally heart surgery is required.[1]
The number of people affected is about 5 per 100,000 per year.[3] Rates, however, vary between regions of the world.[3] Infective endocarditis occurs in males more often than in females.[1] The risk of death among those infected is about 25%.[3] Without treatment, it is almost universally fatal.[1]
## Contents
* 1 Classification
* 1.1 Culture results
* 1.2 Heart side
* 1.3 Infection setting
* 1.4 Valve type
* 2 Signs and symptoms
* 3 Cause
* 3.1 Bacterial
* 3.2 Fungal
* 3.3 Risk factors
* 3.3.1 Dental operations
* 4 Pathogenesis
* 5 Diagnosis
* 5.1 Ultrasound
* 5.2 Modified Duke criteria
* 5.2.1 Major criteria
* 5.2.2 Minor criteria
* 5.3 Risk
* 6 Prevention
* 7 Treatment
* 8 Prognosis
* 9 Epidemiology
* 10 History
* 11 References
* 12 External links
## Classification[edit]
Infective endocarditis is divided into the three categories of acute, subacute, and chronic based on the duration of symptoms.[5] Acute infective endocarditis refers to the presence of signs and symptoms of infective endocarditis that are present for days up to six weeks.[5] If these signs and symptoms persist for more than six weeks but less than three months, this is subacute infective endocarditis.[5] Chronic infective endocarditis refers to the presence of such signs and symptoms when they persist for more than three months.[5]
* Subacute bacterial endocarditis (SBE) is often due to streptococci of low virulence (mainly viridans streptococci) and mild to moderate illness which progresses slowly over weeks and months (>2 weeks) and has low propensity to hematogenously seed extracardiac sites.
* Acute bacterial endocarditis (ABE) is a fulminant illness over days to weeks (<2 weeks), and is more likely due to Staphylococcus aureus, which has much greater virulence or disease-producing capacity and frequently causes metastatic infection.[6]
This classification is now discouraged, because the ascribed associations (in terms of organism and prognosis) were not strong enough to be relied upon clinically. The terms short incubation (meaning less than about six weeks) and long incubation (greater than about six weeks) are preferred.[7]
### Culture results[edit]
Infective endocarditis may also be classified as culture-positive or culture-negative. By far the most common cause of "culture-negative" endocarditis is prior administration of antibiotics.
Sometimes microorganisms can take a longer period of time to grow in the culture media, such organisms are said to be fastidious because they have demanding growth requirements. Some examples include pathogens like Aspergillus species, Brucella species, Coxiella burnetii, Chlamydia species, and HACEK bacteria. Due to delay in growth and identification in these cases, patients may be erroneously classified as "culture-negative" endocarditis.
### Heart side[edit]
Endocarditis can also be classified by the side of the heart affected:
* People who intravenously inject opioids such as heroin or methamphetamine may introduce infection which can travel to the right side of the heart, classically affecting the tricuspid valve, and most often caused by S. aureus.[6]
* Regardless of cause, left-sided endocarditis is more common in both IV drug users and non-drug users than right-sided endocarditis.[6]
### Infection setting[edit]
Another form of endocarditis is healthcare-associated endocarditis when the infecting organism is believed to be transmitted in a health care setting like hospital, dialysis unit or a residential nursing home. Nosocomial endocarditis is a form of healthcare associated endocarditis in which the infective organism is acquired during a stay in a hospital and it is usually secondary to presence of intravenous catheters, total parenteral nutrition lines, pacemakers, etc.[8]
### Valve type[edit]
Finally, the distinction between native-valve endocarditis and prosthetic-valve endocarditis is clinically important. Prosthetic valve endocarditis can be early (< 60 days of valvular surgery), intermediate (60 days to 1 year) or late (> 1 year following valvular surgery).
* Early prosthetic valve endocarditis is usually due to intraoperative contamination or a postoperative bacterial contamination which is usually nosocomial in nature.
* Late prosthetic valve endocarditis is usually due to community acquired microorganisms.[8]
Prosthetic valve endocarditis is commonly caused by Staphylococcus epidermidis as it is capable of growing as a biofilm on plastic surfaces.[9]
## Signs and symptoms[edit]
* Fever occurs in 97% of people; malaise and endurance fatigue in 90% of people.[10]
* A new or changing heart murmur, weight loss, and coughing occurs in 35% of people.[10]
* Vascular phenomena: septic embolism (a piece of infected debris or tissue breaking off and traveling through the bloodstream to a distant site) (causing thromboembolic problems such as a stroke or gangrene of the fingers), Janeway lesions (painless hemorrhagic cutaneous lesions on the palms and soles), bleeding in the brain, conjunctival hemorrhage, splinter hemorrhages, kidney infarcts, and splenic infarcts.[11] Infective endocarditis can also lead to the formation of mycotic aneurysms.[5]
* Immunologic phenomena: glomerulonephritis which allows for blood and albumin to enter the urine,[6] Osler's nodes ("ephemeral spots of a painful nodular erythema, chiefly in the skin of the hands and feet"), Roth's spots on the retina, positive serum rheumatoid factor
* Other signs may include night sweats, rigors, anemia, spleen enlargement
## Cause[edit]
Many microorganisms can cause infective endocarditis. These are generally isolated by blood culture, where the patient's blood is drawn and any growth is noted and identified. The term bacterial endocarditis (BE) commonly is used, reflecting the fact that most cases of IE are due to bacteria; however, infective endocarditis (IE) has become the preferred term.
### Bacterial[edit]
Staphylococcus aureus is the leading cause of infective endocarditis in most parts of the world and is responsible for about 31% of cases.[5] Viridans streptococci and Enterococci are the second and third most common organisms responsible for infective endocarditis.[5] Other Streptococci are also a frequent cause. Staphylococcus aureus is the most common cause of endocarditis in people who use intravenous drugs.[12] Viridans streptococci are a common cause of infective endocarditis in South America. Infective endocarditis due to Streptococcus bovis occurs more commonly in Europe than in North America.[5] HACEK group of bacteria are also rare causes of infective endocarditis in North America.[13]
The viridans group includes S. oralis, S. mitis, S. sanguis, S. gordonii and S. parasanguis. The primary habitats for these organisms are the oral cavity and upper respiratory tract.[14] These bacteria are present in the normal oral flora and enter the bloodstream due to disruption of tissues in the mouth when dental surgical procedures are performed (tooth extractions) or genitourinary manipulation. Similarly, HACEK organisms are a group of bacteria that live on the dental gums, and can be seen with IV drug users who contaminate their needles with saliva. Patients may also have a history of poor dental hygiene, or pre-existing valvular disease.[15]
Viridans alpha-hemolytic streptococci, that are present in the mouth, are the most frequently isolated microorganisms when the infection is acquired in a community setting. In contrast, Staphylococcus blood stream infections are frequently acquired in a health care setting where they can enter the blood stream through procedures that cause break in the integrity of skin, such as surgery, catheterization, or during access of long term indwelling catheters or secondary to intravenous injection of recreational drugs.
Enterococcus can enter the bloodstream as a consequence of abnormalities in the gastrointestinal or genitourinary tracts.
Some organisms, when isolated, give valuable clues to the cause, as they tend to be specific.
* Pseudomonas species, which are very resilient organisms that thrive in water, may contaminate street drugs that have been contaminated with drinking water. P. aeruginosa can infect a child through foot punctures, and can cause both endocarditis and septic arthritis.[16]
* S. bovis and Clostridium septicum, which are part of the natural flora of the bowel, are associated with colon cancers. When they present as the causative agent in endocarditis, it usually prompts a colonoscopy to be done immediately due to concerns regarding spread of bacteria from the colon through the bloodstream due to the cancer breaking down the barrier between the inside of the colon (lumen) and the blood vessels which drain the bowel.[17][18]
* Less commonly reported bacteria responsible for so called "culture negative endocarditis" include Bartonella, Chlamydia psittaci, and Coxiella.[19] Such bacteria can be identified by serology, culture of the excised valve tissue, sputum, pleural fluid, and emboli, and by polymerase chain reaction or sequencing of bacterial 16S ribosomal RNA.
Multiple case reports of infective endocarditis caused by unusual organisms have been published. Cutibacterium sp., which are normal skin flora, have been responsible for infective endocarditis sometimes leading to deaths due to the indolent course of this abscess-producing infection.[20]Tropheryma whipplei has caused endocarditis without gastrointestinal involvement.[21] Citrobacter koseri was found in an immunocompetent adult.[22] Neisseria bacilliformis was found in a person with a bicuspid aortic valve.[23]
### Fungal[edit]
Fungal endocarditis (FE) is an often fatal and one of the most serious forms of infective endocarditis. The types of fungi most seen associated with this disease are:
Candida albicans is found as a spherical or oval budding yeast. It is associated with endocarditis in IV drug users, patients with prosthetic valves, and immunocompromised patients. It forms biofilms around thick-walled resting structures like prosthetic heart valves and additionally colonizes and penetrates endothelial walls.[24] C. albicans is responsible for 24-46% of all the cases of FE, and its mortality rate is 46.6–50%.[25]
Other fungi demonstrated to cause endocarditis are Histoplasma capsulatum and Aspergillus.[19] Aspergillus contributes to roughly 25% of FE cases.[25] Endocarditis with Tricosporon asahii has also been reported in a case report.[26]
### Risk factors[edit]
Risk factors for infective endocarditis are based on the premise that in a healthy individual, bacteremia (bacteria entering the blood stream) is cleared quickly with no adverse consequences.[27] However, if a heart valve is damaged, the bacteria can attach themselves to the valve, resulting in infective endocarditis. Additionally, in individuals with weakened immune systems, the concentration of bacteria in the blood can reach levels high enough to increase the probability that some will attach to the valve. Some significant risk factors are listed here:[5][27]
* Artificial heart valves
* Intracardiac devices, such as implantable cardioverter-defibrillators
* Unrepaired cyanotic congenital heart defects
* History of infective endocarditis
* Neoplastic disease
* Chronic rheumatic heart disease, which is an autoimmune response to repeated Streptococcus pyogenes infection (mostly in the developing world)
* Age-related degenerative valvular lesions
* Congenital heart valve abnormalities
* Hemodialysis, a medical procedure that filters the blood of individuals with kidney failure
* Poor oral hygiene
* Coexisting conditions, especially ones that suppress immunity. Diabetes mellitus, alcohol use disorder, chronic liver disease, HIV/AIDS, and intravenous drug use all fall in this category
More detailed descriptions of these and other risk factors are provided below.
Other conditions that result in large numbers of bacteria entering into the bloodstream include colorectal cancer (mostly Streptococcus bovis),[17] serious urinary tract infections (mostly enterococci), and drug injection (Staphylococcus aureus). With a large number of bacteria, even a normal heart valve may become infected.
A more virulent organism (such as Staphylococcus aureus) can cause infective endocarditis by infecting even a normal heart valve.
Intravenous drug users tend to get their right-sided heart valves infected because the veins that are injected drain into the right side of the heart. In rheumatic heart disease, infection occurs on the aortic and the mitral valves on the left side of the heart.
Other factors that increase the risk of developing infective endocarditis are low levels of white blood cells, immunodeficiency or immunosuppression, malignancy, diabetes mellitus, and alcohol abuse.[6]
#### Dental operations[edit]
In the past, one in eight cases[24] of infective endocarditis were because of bacteremia caused by dental procedures (in most cases due to Streptococcus viridans, which reside in the oral cavity), such as a cleaning or extraction of a tooth; this was thought to be more clinically significant than it actually was. However, it is important that a dentist or a dental hygienist be told of any heart problems before commencing treatment. Antibiotics are administered to patients with certain heart conditions as a precaution, although this practice has changed in the US, with new American Heart Association guidelines released in 2007,[28] and in the UK as of March 2008 due to new NICE guidelines. Everyday tooth brushing and flossing will similarly cause bacteremia, so a high standard of oral health should be adhered to at all times.[24] Although there is little evidence to support antibiotic prophylaxis for dental treatment, the current American Heart Association guidelines are highly accepted by clinicians[29] and patients.[30]
## Pathogenesis[edit]
Drawing of endocarditis.
Damaged valves and endocardium contribute to the development of infective endocarditis.[27] Specifically, the damaged part of a heart valve forms a local blood clot, a condition known as non-bacterial thrombotic endocarditis (NBTE). The platelet and fibrin deposits that form as part of the blood clotting process allow bacteria to take hold and form vegetations. As previously mentioned, the body has no direct methods of combating valvular vegetations because the valves do not have a dedicated blood supply. This combination of damaged valves, bacterial growth, and lack of a strong immune response results in infective endocarditis.
Damage to the valves and endocardium can be caused by:[27]
* Altered, turbulent blood flow. The areas that fibrose, clot, or roughen as a result of this altered flow are known as jet lesions. Altered blood flow is more likely in high pressure areas, so ventricular septal defects or patent ductus arteriosus can create more susceptibility than atrial septal defects.
* Catheters, electrodes, and other intracardiac prosthetic devices.
* Solid particles from repeated intravenous injections.
* Chronic inflammation. Examples include auto-immune mechanisms and degenerative valvular lesions.
The risk factors for infective endocarditis provide a more extensive list of conditions that can damage the heart.
## Diagnosis[edit]
Vegetation on the tricuspid valve by echocardiography. Arrow denotes the vegetation.
In general, the Duke criteria should be fulfilled in order to establish the diagnosis of endocarditis.[5][31] Although the Duke criteria are widely used, they have significant limitations.[5] For example, the sensitivity of the Duke criteria for detecting infective endocarditis decreases when prosthetic heart valves are present.[5]
As the Duke criteria rely heavily on the results of echocardiography, research has addressed when to order an echocardiogram by using signs and symptoms to predict occult endocarditis among patients with intravenous drug abuse[32][33][34] and among non drug-abusing patients.[35][36] However, this research is over twenty years old and it is possible that changes in the epidemiology of endocarditis and bacteria such as staphylococci make the following estimates incorrect.
The blood tests C reactive protein (CRP) and procalcitonin have not been found to be particularly useful in helping make or rule out the diagnosis.[37]
### Ultrasound[edit]
Echocardiography is the main type of diagnostic imaging used to establish the diagnosis of infective endocarditis.[5] There are two main types of echocardiography used to assist with the diagnosis of IE: transthoracic echocardiography (TTE) and transesophageal echocardiography (TEE).[5] The transthoracic echocardiogram has a sensitivity and specificity of approximately 65% and 95% if the echocardiographer believes there is 'probable' or 'almost certain' evidence of endocarditis.[38][39] However, TTE only has a sensitivity of approximately 50% in people with prosthetic valve endocarditis whereas TEE has a sensitivity exceeding 90% in these individuals.[5] The TEE also has an important diagnostic role when the TTE does not reveal evidence of IE but the diagnostic suspicion remains high since TEE is more sensitive for IE than TTE and is better able to characterize the local damage IE causes to the heart valves and surrounding tissues.[5] Guidelines support the initial use of TTE over TEE as an imaging modality in people with positive blood cultures, a new heart murmur, and suspected infective endocarditis.[5] TEE is the preferred initial form of imaging in people with suspected infective endocarditis who have a moderate to high pretest probability of infective endocarditis, including people with prosthetic heart valves, blood cultures growing Staphylococcus, or have an intracardiac device (such as a pacemaker).[5]
* Play media
Ultrasound showing infectious endocarditis[40]
* Play media
Ultrasound showing infectious endocarditis[40]
* Play media
Ultrasound showing infectious endocarditis[40]
* Play media
Ultrasound showing another case of infectious endocarditis[41]
### Modified Duke criteria[edit]
Established in 1994 by the Duke Endocarditis Service and revised in 2000, the Duke criteria are a collection of major and minor criteria used to establish a diagnosis of infective endocarditis.[31][42] According to the Duke criteria, diagnosis of infective endocarditis can be definite, possible, or rejected.[27] A diagnosis of infective endocarditis is definite if either the following pathological or clinical criteria are met:
One of these pathological criteria:
* Histology or culture of a cardiac vegetation, an embolized vegetation, or intracardiac abscess from the heart finds microorganisms
* Active endocarditis
One of these combinations of clinical criteria
* Two major clinical criteria
* One major and three minor criteria
* Five minor criteria
Diagnosis of infective endocarditis is possible if one of the following combinations of clinical criteria are met:
* One major and one minor criteria
* Three minor criteria are fulfilled
#### Major criteria[edit]
Positive blood culture with typical IE microorganism, defined as one of the following:[27]
* Typical microorganism consistent with IE from two separate blood cultures, as noted below:
* Viridans-group streptococci, or
* Streptococcus bovis including nutritional variant strains, or
* HACEK group, or
* Staphylococcus aureus, or
* Community-acquired enterococci, in the absence of a primary focus
* Microorganisms consistent with IE from persistently positive blood cultures defined as:
* Two positive cultures of blood samples drawn >12 hours apart, or
* Three or a majority of ≥four separate blood cultures (with first and last sample drawn at least one hour apart)
* Coxiella burnetii detected by at least one positive blood culture or IgG antibody titer for Q fever phase 1 antigen >1:800. This was previously a minor criterion
Evidence of endocardial involvement with positive echocardiogram defined as
* Oscillating intracardiac mass on valve or supporting structures, in the path of regurgitant jets, or on implanted material in the absence of an alternative anatomic explanation, or
* Abscess, or
* New partial dehiscence of prosthetic valve or new valvular regurgitation (worsening or changing of preexisting murmur not sufficient)
#### Minor criteria[edit]
* Predisposing factor: known cardiac lesion, recreational drug injection
* Fever >38 °C
* Vascular phenomena: arterial emboli, pulmonary infarcts, Janeway lesions, conjunctival hemorrhage
* Immunological phenomena: glomerulonephritis, Osler's nodes, Roth's spots, Rheumatoid factor
* Microbiologic evidence: Positive blood culture (that doesn't meet a major criterion) or serologic evidence of infection with organism consistent with IE but not satisfying major criterion
### Risk[edit]
Among people who do not use intravenous drugs and have a fever in the emergency department, there is a less than 5% chance of occult endocarditis. Mellors in 1987 found no cases of endocarditis nor of staphylococcal bacteremia among 135 febrile patients in the emergency room.[36] The upper confidence interval for 0% of 135 is 5%, so for statistical reasons alone, there is up to a 5% chance of endocarditis among these patients. In contrast, Leibovici found that among 113 non-selected adults admitted to the hospital because of fever there were two cases (1.8% with 95%CI: 0% to 7%) of endocarditis.[35]
Among people who do use intravenous drugs and have a fever in the emergency department, there is about a 10% to 15% prevalence of endocarditis. This estimate is not substantially changed by whether the doctor believes the patient has a trivial explanation for their fever.[34] Weisse found that 13% of 121 patients had endocarditis.[32] Marantz also found a prevalence of endocarditis of 13% among such patients in the emergency department with fever.[34] Samet found a 6% incidence among 283 such patients, but after excluding patients with initially apparent major illness to explain the fever (including 11 cases of manifest endocarditis), there was a 7% prevalence of endocarditis.[33]
Among people with staphylococcal bacteremia (SAB), one study found a 29% prevalence of endocarditis in community-acquired SAB versus 5% in nosocomial SAB.[43] However, only 2% of strains were resistant to methicillin and so these numbers may be low in areas of higher resistance.
## Prevention[edit]
Not all people with heart disease require antibiotics to prevent infective endocarditis. Heart diseases have been classified into high, medium and low risk of developing IE. Those falling into high risk category require IE prophylaxis before endoscopies and urinary tract procedures. Diseases listed under high risk include:
* Prior endocarditis
* Unrepaired cyanotic congenital heart diseases
* Completely repaired congenital heart disease in their first 6 months
* Prosthetic heart valves
* Incompletely repaired congenital heart diseases
* Cardiac transplant valvulopathy
Following are the antibiotic regimens recommended by the American Heart Association for antibiotic prophylaxis:[28]
Oral amoxicillin one hour before the procedure
Intravenous or intramuscular ampicillin one hour before the procedure
In patients allergic to penicillins
Azithromycin or clarithromycin orally one hour before the procedure
Cephalexin orally one hour before the procedure
Clindamycin orally one hour before the procedure
In the UK, NICE clinical guidelines no longer advise prophylaxis because there is no clinical evidence that it reduces the incidence of IE and there are negative effects (e.g. allergy and increased bacterial resistance) of taking antibiotics that may outweigh the benefits.[44]
Antibiotics were historically commonly recommended to prevent IE in those with heart problems undergoing dental procedures (known as dental antibiotic prophylaxis). There is, however, insufficient evidence to support whether antibiotics are effective or ineffective at preventing IE when given prior to a dental procedures in people at high risk.[45] They are less commonly recommended for this procedure.[46]
In some countries e.g. the USA, high risk patients may be given prophylactic antibiotics such as penicillin or clindamycin for penicillin-allergic people prior to dental procedures.[14] Prophylactics should be bactericidal rather than bacteriostatic.[14] Such measures are not taken in certain countries e.g. Scotland due to the fear of antibiotic resistance.[47] Because bacteria are the most common cause of infective endocarditis, antibiotics such as penicillin[14] and amoxicillin (for beta lactamase-producing bacteria) are used in prophylaxis.
## Treatment[edit]
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High-dose antibiotics are the cornerstone of treatment for infective endocarditis. These antibiotics are administered by the intravenous (IV) route to maximize diffusion of antibiotic molecules into vegetation(s) from the blood filling the chambers of the heart. This is necessary because neither the heart valves nor the vegetations adhering to them are supplied by blood vessels. Antibiotics are typically continued for two to six weeks depending on the characteristics of the infection and the causative microorganisms. Antibiotic treatment lowers the risk of embolic complications in people with infective endocarditis.[5]
In acute endocarditis, due to the fulminant inflammation, empirical antibiotic therapy is started immediately after the blood has been drawn for culture to clarify the bacterial organisms responsible for the infection. This usually includes vancomycin and ceftriaxone IV infusions until the infecting organism is identified and the susceptibility report with the minimum inhibitory concentration becomes available. Once this information is available, this allows the supervising healthcare professional to modify the antimicrobial therapy to target the specific infecting microorganism. The routine use of gentamicin to treat endocarditis has fallen out of favor due to the lack of evidence to support its use (except in infections caused by Enterococcus and nutritionally variant streptococci) and the high rate of complications.[48] In cases of subacute endocarditis, where the person's hemodynamic status is usually stable, antibiotic treatment can be delayed until the causative microorganism can be identified.
Viridans group streptococci and Streptococcus bovis are usually highly susceptible to penicillin and can be treated with penicillin or ceftriaxone.[49] Relatively resistant strains of viridans group streptococci and Streptococcus bovis are treated with penicillin or ceftriaxone along with a shorter two-week course of an aminoglycoside during the initial phase of treatment.[49] Highly penicillin-resistant strains of viridans group streptococci, nutritionally variant streptococci like Granulicatella sp., Gemella sp., Abiotrophia defectiva,[50] and Enterococci are usually treated with a combination therapy consisting of penicillin and an aminoglycoside for the entire duration of 4–6 weeks.[49]
Some people may be treated with a relatively shorter course of treatment[49] (two weeks) with benzyl penicillin IV if infection is caused by viridans group streptococci or Streptococcus bovis as long as the following conditions are met:
* Endocarditis of a native valve, not of a prosthetic valve
* A MIC ≤ 0.12 mg/l
* A complication such as heart failure, arrhythmia, or pulmonary embolism occurs
* No evidence of extracardiac complication like septic thromboembolism
* No vegetations > 5 mm in diameter conduction defects
* Rapid clinical response and clearance of blood stream infection
Additionally, oxacillin-susceptible Staphylococcus aureus native valve endocarditis of the right side can also be treated with a short 2-week course of a beta-lactam antibiotic such as nafcillin with or without aminoglycosides.
Surgical debridement of infected material and replacement of the valve with a mechanical or bioprosthetic artificial heart valve is necessary in certain situations:[51]
* Patients with significant valve stenosis or regurgitation causing heart failure
* Evidence of hemodynamic compromise in the form of elevated end-diastolic left ventricular or left atrial pressure or moderate to severe pulmonary hypertension
* Presence of intracardiac complications like paravalvular abscess, conduction defects or destructive penetrating lesions
* Recurrent septic emboli despite appropriate antibiotic treatment
* Large vegetations (> 10 mm)
* Persistently positive blood cultures despite appropriate antibiotic treatment
* Prosthetic valve dehiscence
* Relapsing infection in the presence of a prosthetic valve
* Abscess formation
* Early closure of mitral valve
* Infection caused by fungi or resistant Gram negative bacteria.
The guidelines were recently updated by both the American College of Cardiology and the European Society of Cardiology. There was a recent meta-analysis published that showed surgical intervention at seven days or less is associated with lower mortality.[52]
## Prognosis[edit]
Infective endocarditis is associated with 18% in-hospital mortality.[13] As many as 50% of people with infective endocarditis may experience embolic complications.[5]
## Epidemiology[edit]
In developed countries, the annual incidence of infective endocarditis is 3 to 9 cases per 100,000 persons.[27] Infective endocarditis occurs more often in men than in women.[5] There is an increased incidence of infective endocarditis in persons 65 years of age and older, which is probably because people in this age group have a larger number of risk factors for infective endocarditis. In recent years, over one-third of infective endocarditis cases in the United States were healthcare-associated.[27] Another trend observed in developed countries is that chronic rheumatic heart disease accounts for less than 10% of cases. Although a history of valve disease has a significant association with infective endocarditis, 50% of all cases develop in people with no known history of valvular disease.
## History[edit]
Lazare Riviére first described infective endocarditis affecting the aortic valve in 1616.[5] In 1806, Jean-Nicolas Corvisart coined the term vegetation to describe collections of debris found on a mitral valve affected by infective endocarditis.[5] The British physician Joseph Hodgson was the first to describe the embolic complications of infective endocarditis in 1815.[5] It was not until 1878 that Theodor Klebs first suggested that infective endocarditis had a microbial infectious origin.[5] In 1909, William Osler noted that heart valves that experienced degeneration and were sclerotic or poorly functioning had a higher risk of being affected.[5] Later, in 1924, Emanuel Libman and Benjamin Sacks described cases of vegetative endocarditis that lacked a clear microbial origin and were often associated with the autoimmune condition systemic lupus erythematosus.[5] In 1944, physicians reported on the first successful use of penicillin to treat a case of infective endocarditis.[5]
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27. ^ a b c d e f g h Hoen B, Duval X (April 2013). "Clinical practice. Infective endocarditis". The New England Journal of Medicine. 368 (15): 1425–33. doi:10.1056/NEJMcp1206782. PMID 23574121.
28. ^ a b Wilson W, Taubert KA, Gewitz M, Lockhart PB, Baddour LM, Levison M, et al. (October 2007). "Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group". Circulation. 116 (15): 1736–54. doi:10.1161/CIRCULATIONAHA.106.183095. PMID 17446442.
29. ^ Zadik Y, Findler M, Livne S, Levin L, Elad S (December 2008). "Dentists' knowledge and implementation of the 2007 American Heart Association guidelines for prevention of infective endocarditis". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 106 (6): e16–9. doi:10.1016/j.tripleo.2008.08.009. PMID 19000604.
30. ^ Elad S, Binenfeld-Alon E, Zadik Y, Aharoni M, Findler M (March 2011). "Survey of acceptance of the 2007 American Heart Association guidelines for the prevention of infective endocarditis: a pilot study". Quintessence International. 42 (3): 243–51. PMID 21465012. Archived from the original on 2015-12-22.
31. ^ a b Durack DT, Lukes AS, Bright DK (March 1994). "New criteria for diagnosis of infective endocarditis: utilization of specific echocardiographic findings. Duke Endocarditis Service". The American Journal of Medicine. 96 (3): 200–9. doi:10.1016/0002-9343(94)90143-0. PMID 8154507.
32. ^ a b Weisse AB, Heller DR, Schimenti RJ, Montgomery RL, Kapila R (March 1993). "The febrile parenteral drug user: a prospective study in 121 patients". The American Journal of Medicine. 94 (3): 274–80. doi:10.1016/0002-9343(93)90059-X. PMID 8452151.
33. ^ a b Samet JH, Shevitz A, Fowle J, Singer DE (July 1990). "Hospitalization decision in febrile intravenous drug users". The American Journal of Medicine. 89 (1): 53–7. doi:10.1016/0002-9343(90)90098-X. PMID 2368794.
34. ^ a b c Marantz PR, Linzer M, Feiner CJ, Feinstein SA, Kozin AM, Friedland GH (June 1987). "Inability to predict diagnosis in febrile intravenous drug abusers". Annals of Internal Medicine. 106 (6): 823–8. doi:10.7326/0003-4819-106-6-823. PMID 3579068.
35. ^ a b Leibovici L, Cohen O, Wysenbeek AJ (June 1990). "Occult bacterial infection in adults with unexplained fever. Validation of a diagnostic index". Archives of Internal Medicine. 150 (6): 1270–2. doi:10.1001/archinte.150.6.1270. PMID 2353860.
36. ^ a b Mellors JW, Horwitz RI, Harvey MR, Horwitz SM (April 1987). "A simple index to identify occult bacterial infection in adults with acute unexplained fever". Archives of Internal Medicine. 147 (4): 666–71. doi:10.1001/archinte.147.4.666. PMID 3827454.
37. ^ Yu CW, Juan LI, Hsu SC, Chen CK, Wu CW, Lee CC, Wu JY (June 2013). "Role of procalcitonin in the diagnosis of infective endocarditis: a meta-analysis". The American Journal of Emergency Medicine. 31 (6): 935–41. doi:10.1016/j.ajem.2013.03.008. PMID 23601504.
38. ^ Shively BK, Gurule FT, Roldan CA, Leggett JH, Schiller NB (August 1991). "Diagnostic value of transesophageal compared with transthoracic echocardiography in infective endocarditis". Journal of the American College of Cardiology. 18 (2): 391–7. doi:10.1016/0735-1097(91)90591-V. PMID 1856406.
39. ^ Erbel R, Rohmann S, Drexler M, Mohr-Kahaly S, Gerharz CD, Iversen S, Oelert H, Meyer J (January 1988). "Improved diagnostic value of echocardiography in patients with infective endocarditis by transoesophageal approach. A prospective study". European Heart Journal. 9 (1): 43–53. doi:10.1093/oxfordjournals.eurheartj.a062389. PMID 3345769.
40. ^ a b c "UOTW #27 – Ultrasound of the Week". Ultrasound of the Week. 26 November 2014. Archived from the original on 9 May 2017. Retrieved 27 May 2017.
41. ^ "UOTW #60 – Ultrasound of the Week". Ultrasound of the Week. 5 October 2015. Archived from the original on 9 May 2017. Retrieved 27 May 2017.
42. ^ Li JS, Sexton DJ, Mick N, Nettles R, Fowler VG, Ryan T, Bashore T, Corey GR (April 2000). "Proposed modifications to the Duke criteria for the diagnosis of infective endocarditis". Clinical Infectious Diseases. 30 (4): 633–8. doi:10.1086/313753. PMID 10770721.
43. ^ Kaech C, Elzi L, Sendi P, Frei R, Laifer G, Bassetti S, Fluckiger U (April 2006). "Course and outcome of Staphylococcus aureus bacteraemia: a retrospective analysis of 308 episodes in a Swiss tertiary-care centre". Clinical Microbiology and Infection. 12 (4): 345–52. doi:10.1111/j.1469-0691.2005.01359.x. PMID 16524411.
44. ^ "Prophylaxis against infective endocarditis: Antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures". NICE Clinical Guidelines. National Institute for Health Care and Excellence (UK). March 2008. Archived from the original on 2013-01-26. Retrieved 2013-04-30.
45. ^ Glenny AM, Roberts GJ, Hooper L, Worthington HV (2013). "Antibiotics for the prophylaxis of bacterial endocarditis in dentistry". Cochrane Database of Systematic Reviews (10): CD003813. doi:10.1002/14651858.CD003813.pub4. PMID 24108511 – via Cochrane.
46. ^ "Prophylaxis against infective endocarditis: antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures". National Institute for Health and Care Excellence (NICE). 2008.
47. ^ "Drug Prescribing". SDCEP. Retrieved 2018-01-25.
48. ^ Cosgrove SE, Vigliani GA, Fowler VG, Abrutyn E, Corey GR, Levine DP, Rupp ME, Chambers HF, Karchmer AW, Boucher HW (March 2009). "Initial low-dose gentamicin for Staphylococcus aureus bacteremia and endocarditis is nephrotoxic". Clinical Infectious Diseases. 48 (6): 713–21. doi:10.1086/597031. PMID 19207079.
49. ^ a b c d Baddour LM, Wilson WR, Bayer AS, Fowler VG, Bolger AF, Levison ME, et al. (June 2005). "Infective endocarditis: diagnosis, antimicrobial therapy, and management of complications: a statement for healthcare professionals from the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease, Council on Cardiovascular Disease in the Young, and the Councils on Clinical Cardiology, Stroke, and Cardiovascular Surgery and Anesthesia, American Heart Association: endorsed by the Infectious Diseases Society of America". Circulation. 111 (23): e394–434. doi:10.1161/CIRCULATIONAHA.105.165564. PMID 15956145.
50. ^ Kalavakunta JK, Davenport DS, Tokala H, King A, Khagny M, Gupta V (January 2011). "Destructive Abiotrophia defectiva endocarditis". The Journal of Heart Valve Disease. 20 (1): 111–2. PMID 21404910.
51. ^ Bonow RO, Carabello BA, Chatterjee K, de Leon AC, Faxon DP, Freed MD, et al. (September 2008). "2008 focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to revise the 1998 guidelines for the management of patients with valvular heart disease). Endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Journal of the American College of Cardiology. 52 (13): e1–142. doi:10.1016/j.jacc.2008.05.007. PMID 18848134.
52. ^ Anantha Narayanan M, Mahfood Haddad T, Kalil AC, Kanmanthareddy A, Suri RM, Mansour G, Destache CJ, Baskaran J, Mooss AN, Wichman T, Morrow L, Vivekanandan R (2016). "Early versus late surgical intervention or medical management for infective endocarditis: a systematic review and meta-analysis". Heart. 102 (12): 950–7. doi:10.1136/heartjnl-2015-308589. PMID 26869640. S2CID 12007082.CS1 maint: multiple names: authors list (link)
## External links[edit]
Classification
D
* ICD-10: I33
* ICD-9-CM: 421.0-421.1
External resources
* MedlinePlus: 000681
Infective endocarditis at Curlie
Scholia has a topic profile for Infective endocarditis.
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Infective endocarditis
|
c1541923
| 7,151 |
wikipedia
|
https://en.wikipedia.org/wiki/Infective_endocarditis
| 2021-01-18T18:57:47 |
{"gard": ["6337"], "mesh": ["D004696"], "umls": ["C1541923", "C0014118"], "icd-9": ["421.1", "421.0"], "icd-10": ["I33"], "wikidata": ["Q2450598"]}
|
A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
## Epidemiology
The prevalence of Oculocutaneous albinism type 2 (OCA2) is estimated at 1/38,000-1/40,000 in most populations throughout the world except in the African population that has a higher prevalence of 1/3,900-1/1,500.
## Clinical description
Skin and hair pigmentation ranges from minimal to near normal. Most infants develop nystagmus before the age of 3-4 months, which may start off as rapid but usually slows down over time. Strabismus and visual inattention is also present in the first six months of life. Adult visual acuity usually ranges from 20/60-20/100 and does not worsen over time. Iris color ranges from blue to brown. Newborns all have pigmented hair ranging from light yellow to light brown and skin color is creamy white. Hair color may darken over time but does not change after adolescence. In Africans, a phenotype of light brown hair and skin and gray irises occurs, known as brown OCA (BOCA), which is part of the spectrum of OCA2. Patients of other ethnicities with BOCA have almost normal pigmentation. Exposure to sun can overtime lead to rough, coarse and thickened skin along with solar keratoses. Patients have an increased risk of developing basal and squamous cell carcinomas but melanomas are rare.
## Etiology
OCA2 is caused by a mutation in the OCA2 gene (15q12-q13), encoding the OCA2 protein. The precise function of this protein is unknown, however, several studies have reported possible roles in the maintenance of proper intramelanosomal pH or the melanosomal structural matrix. Patients with OCA2 have melanocytes that still produce small amounts of melanin, but it is mostly yellow pheomelanin.
## Diagnostic methods
The characteristic clinical findings along with genetic testing are used to diagnose OCA2. Ophthalmologic examination reveals visualization of the choroidal blood vessels, reduced retinal pigment and foveal hypoplasia. Alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP) are associated with the characteristic misrouting of the optic nerves at the chiasm. Molecular genetic testing for a mutation in the OCA2 gene can confirm diagnosis of OCA2 and distinguish it from other forms of OCA.
## Differential diagnosis
Differential diagnoses include the other forms of OCA and X-linked recessive ocular albinism (XLOA) as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. The BOCA phenotype can also be seen in OCA3.
## Antenatal diagnosis
Prenatal testing is possible when the disease causing mutation in the parent is known.
## Genetic counseling
OCA2 is inherited autosomal recessively and genetic counseling is recommended for at-risk couples (both individuals are carriers of a disease-causing mutation), informing them of the 25% risk of having an affected child at each pregnancy.
## Management and treatment
No curative treatment has been found for OCA to date. Protection from sunlight is imperative and patients should wear clothing and sunscreen on exposed skin to prevent burning and reduce the risk of skin cancer. Annual skin examinations should also be performed to identify any pre-cancerous or cancerous lesions. Periodical ophthalmologic examination is necessary and corrective lenses or glasses are given to improve visual acuity. Dark glasses may be needed to relieve photophobia. Strabismus surgery can be performed for functional or cosmetic reasons.
## Prognosis
The disease is not life threatening and stabilizes after childhood. However, the medical and social consequences can have an impact on patient's daily life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Oculocutaneous albinism type 2
|
c0268495
| 7,152 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79432
| 2021-01-23T18:27:58 |
{"gard": ["4038"], "mesh": ["C537730"], "omim": ["203200"], "umls": ["C0268495"], "icd-10": ["E70.3"], "synonyms": ["OCA2"]}
|
A number sign (#) is used with this entry because of evidence that Shprintzen-Goldberg craniosynostosis syndrome (SGS) is caused by heterozygous mutation in the SKI gene (164780) on chromosome 1p36.
Description
Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears. Other commonly reported manifestations include hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by Robinson et al., 2005).
There is considerable phenotypic overlap between SGS and Marfan syndrome (MFS; 154700) and Loeys-Dietz syndrome (LDS; see 609192): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by Doyle et al., 2012).
Clinical Features
In 2 unrelated boys, Shprintzen and Goldberg (1982) described a 'new' syndrome of craniosynostosis associated with severe exophthalmos, maxillary and mandibular hypoplasia, soft tissue hypertrophy of the palatal shelves, low-set ears with soft and pliable auricles, multiple abdominal hernias, arachnodactyly, and camptodactyly. Functional disorders included infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. The marked soft tissue of the palatal shelves created a 'pseudocleft' of the palate. Pectus carinatum was present in one of the boys and pectus excavatum in the other.
Gorlin et al. (1990) discussed Shprintzen-Goldberg syndrome (SGS) and related syndromes.
Ades et al. (1995) delineated the distinct skeletal abnormalities of the Shprintzen-Goldberg syndrome on the basis of 4 affected girls. Three of them showed bowing of long bones (with a variable degree of progression over time), flare of the metaphyses, a large anterior fontanel with persistent patency into the second to fourth years of life, 13 pairs of ribs, distinct vertebral abnormalities that were absent neonatally but evolved by the second year of life, and progressive osteopenia. Communicating hydrocephalus was present in all 4 cases. Arachnodactyly was illustrated as well as a superior folding of the helix of the ear, reminiscent of that in congenital contractural arachnodactyly (121050). Two of the patients were monozygotic twin girls and another sister was case 4. Apart from this family, all known cases were sporadic. The 3 sibs were products of a nonconsanguineous union, and there had been no previous documented instance of parental consanguinity. Ades et al. (1995) concluded that SGS is probably a generalized connective tissue dysplasia. Saal et al. (1995) reported another female patient with the craniosynostosis and marfanoid phenotype. The disorder was detected prenatally by the presence of a cloverleaf skull. She also had choanal atresia and stenosis. One of the patients reported by Ades et al. (1995) had intestinal malrotation and anteriorly placed anus. Shah et al. (1996) reported an Indian patient with the association of Marfan syndrome (with a dilated aortic root and atlantoaxial dislocation) and the fusion of coronal and sagittal skull sutures.
Hassed et al. (1997) described a boy with Shprintzen-Goldberg syndrome, presumably the twelfth patient to be reported. In addition to the commonly described anomalies of individuals with SGS, this patient also had cranial asymmetry, hypotonia, osteopenia, and hydrocephalus.
Greally et al. (1998) presented 4 new patients with SGS and reviewed 1 of the patients in the original report of Shprintzen and Goldberg (1982). They concluded that radiologic investigations are particularly helpful in differentiating SGS from other syndromes with craniosynostosis and marfanoid habitus. Abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. Pectus excavatum and striking arachnodactyly were pictured.
Stoll (2002) reported a 24-year follow-up of a patient with SGS. Dysmorphic features were noted in infancy and became more pronounced over time. These included brachycephaly, posteriorly rotated floppy ears, shallow orbits, hypertelorism, midfacial hypoplasia, a narrow palate, sagittal synostosis, arachnodactyly, camptodactyly, pectus excavatum, scoliosis, bilateral inguinal and crural hernias, fragile skin, and lack of subcutaneous fat. Pectus excavatum was severe and scoliosis worsened during adolescence. Foot deformities included hallux varus, metatarsophalangeal dislocation, hammertoes and tarsometatarsal dislocation. There was also bilateral dislocation of the radial heads. Myopia was present and worsened over time. Height and weight were reduced initially but final adult height was normal. Puberty was delayed. Despite initial psychomotor developmental delay, the patient had no resulting mental retardation. No mutation was found in the gene encoding fibrillin-1.
Loeys et al. (2005) compared the clinical features of their series of cases with the Loeys-Dietz syndrome with that of SGS as presented by Greally et al. (1998) and with Marfan syndrome. Cleft palate/bifid uvula was present in 100% of cases of LDS, in none of the MFS patients, and in 1 of 15 SGS cases. Aortic root aneurysm was present in 16 of 16 cases of LDS and 2 of 15 of SGS. Arterial tortuosity was present in 11 of 11 LDS cases and was not associated with the other 2 conditions. Blue sclerae were present in 8 of 13 LDS patients and were not associated with the other 2 conditions. Ectopia lentis was not present in any of the 16 cases of LDS. Patent ductus arteriosus and atrial septal defect were present in 54% and 31%, respectively, of LDS cases but were not associated with the other 2 conditions.
Robinson et al. (2005) reported 13 unrelated patients and 1 sib with SGS and compared their clinical findings with those of 23 previously reported individuals. They suggested that there is a characteristic facial appearance, with more than two-thirds of all individuals having hypertelorism, downslanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears.
The related disorders SGS and Furlong syndrome (LDS; see 609192) feature marfanoid habitus and craniosynostosis. Megarbane and Hokayem (1998) suggested dividing craniosynostosis with marfanoid habitus into 2 types: type 1, with mental retardation (SGS), and type 2, with normal intelligence and aortic root anomalies (Furlong syndrome).
Ades et al. (2006) questioned the diagnosis of SGS in one of the patients of Greally et al. (1998) and in the patient of Stoll (2002).
Molecular Genetics
Doyle et al. (2012) performed whole-exome sequencing in a woman with Shprintzen-Goldberg syndrome and her unaffected parents and identified only 1 variant, a de novo heterozygous missense mutation in the SKI gene (G116E; 164780.0001). The mutation was not present in the unaffected parents or in SNP databases. Subsequent sequencing of SKI in 11 more sporadic cases of SGS revealed heterozygous variants in 9 of the patients, including 7 missense mutations and a 9-bp deletion (see, e.g., 164780.0002-164780.0005). The mutations were not found in SNP databases or in the unaffected parents in the 5 cases in which parental DNA was available. All 10 mutation-positive patients had skeletal muscle hypotonia and developmental delay; 8 of the 10 also had aortic root dilation, 1 had arterial tortuosity, and 2 had splenic artery aneurysm, which spontaneously ruptured in 1 patient. Doyle et al. (2012) stated that despite near-complete phenotypic overlap between Loeys-Dietz syndrome and SGS, the aneurysm phenotype in SGS is less penetrant, less diffuse (generally restricted to the aortic root), and less severe than that seen in LDS. Cultured dermal fibroblasts from mutation-positive SGS patients showed enhanced activation of TGF-beta (TGFB1; 190180) signaling cascades and higher expression of TGF-beta-responsive genes relative to control cells. Doyle et al. (2012) concluded that increased TBF-beta signaling is the mechanism underlying SGS and that high signaling contributes to multiple syndromic presentations of aortic aneurysm.
In 18 of 19 patients with characteristic features of SGS who were negative for mutation in the FBN1 (134797), TGFBR1 (190181), and TGFBR2 (190182) genes, including 5 affected individuals over 3 generations in 1 family and another family in which 3 sibs were affected, Carmignac et al. (2012) identified heterozygosity for 2 different in-frame deletions and 10 missense mutations in the SKI gene (see, e.g., 164780.0002, 164780.0004, 164780.0005, and 164780.0007-164780.0010). No SKI mutations were found in a cohort of 11 patients with other marfanoid craniosynostosis syndromes. Carmignac et al. (2012) noted that 3 of the 18 patients with SKI mutations had aortic dilation, 1 of whom also had vertebrobasilar and internal carotid tortuosity and a dilated pulmonary artery root, further highlighting the overlap between SGS and LDS; however, all of the patients with SKI mutations had intellectual disability, supporting the hypothesis that they are distinct syndromes.
In patients with Marfan syndrome (154700) who also had features of Shprintzen-Goldberg syndrome, including craniosynostosis and mental retardation, Sood et al. (1996) and Kosaki et al. (2006) identified heterozygous mutations in the FBN1 gene (134797.0022 and 134797.0045). Doyle et al. (2012) stated that it may be significant that both of the identified mutations reside in the same EGF-like domain of fibrillin.
Schepers et al. (2015) analyzed the SKI gene in 19 patients with clinically suspected SGS and identified 8 recurrent and 3 novel mutations in 11 patients (see, e.g., 164780.0002-164780.0004, 164780.0007; 164780.0010). The authors stated that their findings, in combination with previously reported data, clearly show a mutational hotspot in the SKI gene, with 24 (73%) of 33 unrelated patients having mutations within a stretch of 5 residues (from ser31 to pro35). Schepers et al. (2015) noted that, in contrast to the SGS patients reported by Doyle et al. (2012), only 2 of the patients in their series presented with aortic root dilation.
Animal Model
Doyle et al. (2012) generated zebrafish with morpholino-based knockdown of the 2 paralogs of mammalian SKI (skia and skib), and observed mutant embryos with marked craniofacial cartilage deficits, including shortened and flat Meckel cartilage, irregular lengths of palatoquadrates, shortened ceratohyales, and depleted ceratobranchial arches. These deficits manifested in larval fish as maxillary hypoplasia, malformed ethmoid plate, micrognathia and microcephaly, and were frequently accompanied by ocular hypertelorism and spinal malformation. In addition, the skia- and skib-morphant embryos showed severe cardiac anomalies, characterized by partial to complete failure in cardiac looping and malformations of the outflow tract. Doyle et al. (2012) noted that in comparison to Ski-null mice, the zebrafish morphants more closely recapitulated the human SGS craniofacial phenotype.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Dolichocephaly \- Microcephaly Face \- High, prominent forehead \- Maxillary hypoplasia \- Micrognathia Ears \- Soft auricles \- Low-set ears \- Posteriorly rotated ears \- Hearing loss, conductive (rare) Eyes \- Telecanthus \- Hypertelorism \- Proptosis \- Strabismus \- Downslanting palpebral fissures \- Myopia \- Ptosis \- Shallow orbits Nose \- Upturned nose Mouth \- High palate \- Narrow palate \- Prominent lateral palatine ridge Teeth \- Malocclusion CARDIOVASCULAR Heart \- Mitral valve prolapse \- Aortic root dilation Vascular \- Vertebrobasilar artery tortuosity (rare) \- Internal carotid artery tortuosity (rare) \- Pulmonary artery root dilation (rare) RESPIRATORY Airways \- Obstructive apnea CHEST Ribs Sternum Clavicles & Scapulae \- Pectus excavatum \- Pectus carinatum \- Thin ribs \- 13 pairs of ribs (rare) ABDOMEN External Features \- Umbilical hernia \- Abdominal wall weakness Gastrointestinal \- Gastroesophageal reflux (rare) GENITOURINARY External Genitalia (Male) \- Inguinal hernia External Genitalia (Female) \- Inguinal hernia Internal Genitalia (Male) \- Cryptorchidism (rare) SKELETAL \- Joint laxity \- Joint contractures \- Osteopenia Skull \- Craniosynostosis \- Large anterior fontanel Spine \- C1-C2 vertebral abnormality (fusion or subluxation) \- Scoliosis Limbs \- Bowed long bones (rare) \- Genu valgum (rare) \- Radial head dislocation (rare) \- Wide metaphyses (rare) Hands \- Arachnodactyly \- Camptodactyly \- Genu recurvatum Feet \- Metatarsus adductus \- Talipes equinovarus \- Pes planus SKIN, NAILS, & HAIR Skin \- Hyperelastic skin MUSCLE, SOFT TISSUES \- Minimal subcutaneous fat NEUROLOGIC Central Nervous System \- Hypotonia \- Developmental delay \- Mental retardation \- Hydrocephalus \- Arnold-Chiari type I malformation MOLECULAR BASIS \- Caused by mutation in the SKI proto-oncogene (SKI, 164780.0001 ) ▲ 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
|
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
|
c1321551
| 7,153 |
omim
|
https://www.omim.org/entry/182212
| 2019-09-22T16:34:51 |
{"doid": ["2340"], "mesh": ["C537328"], "omim": ["182212"], "orphanet": ["2462"], "synonyms": ["Alternative titles", "CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS", "MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I", "MARFANOID CRANIOSYNOSTOSIS SYNDROME"], "genereviews": ["NBK1277"]}
|
A number sign (#) is used with this entry because susceptibility to the development of autosomal dominant Parkinson disease-13 may be conferred by heterozygous mutation in the HTRA2 gene (606441) on chromosome 2p13.
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Clinical Features
Strauss et al. (2005) described the phenotype of 4 German PD patients with a mutation in the HTRA2 gene. Clinical symptoms included typical features of PD including bradykinesia, tremor, and muscular rigidity. All symptoms responded well to levodopa therapy. Age at disease onset ranged from 49 to 77 years (mean 57.3 +/- standard error of mean 13.3 years). Heterozygous carriers of the S141 mutant allele also reflected typical features of PD including a positive and sustained response to levodopa therapy. The mean age at onset was 55.3 +/- 11.0 years, similar to that of the total study cohort of 518 German patients with idiopathic PD (55.3 +/- 12.0 years).
Molecular Genetics
Using a candidate gene approach based on the phenotype of motor neuron degeneration-2 (mnd2) mice, Strauss et al. (2005) performed a mutation screening of the HTRA2 gene (606441) in 518 German patients with PD. In 4 of the patients they found a novel heterozygous mutation (G399S; 606441.0001). They also found that a novel polymorphism (A141S; 606441.0002) was associated with PD (p = 0.05). Both mutations resulted in defective activation of the protease activity of HTRA2. Immunohistochemistry and functional analysis in stably transfected cells revealed that S399 mutant HTRA2 and to a lesser extent the S141 risk allele polymorphism induced mitochondrial dysfunction associated with altered mitochondrial morphology. Cells overexpressing S399 mutant HTRA2 were more susceptible to stress-induced death than were wildtype. Strauss et al. (2005) concluded that their results provided a novel link between mitochondrial dysfunction and neurodegeneration in PD.
Simon-Sanchez and Singleton (2008), however, failed to find an association between the G399S or A141S variants and PD among 644 PD patients and 828 controls; in addition, no associations were observed after stratifying by age. Simon-Sanchez and Singleton (2008) concluded that variability at HTRA2 does not contribute to risk of PD.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
c1853202
| 7,154 |
omim
|
https://www.omim.org/entry/610297
| 2019-09-22T16:04:43 |
{"omim": ["610297"], "orphanet": ["2828"], "synonyms": ["Early-onset Parkinson disease", "YOPD"], "genereviews": ["NBK1223"]}
|
Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).
## Epidemiology
Data regarding prevalence in Europe are not available.
## Clinical description
Serotoninergic syndrome may result in muscle rigidity, myoclonus, agitation, confusion, hyperthermia, hyperreflexia as well as dysautonomic symptoms, with a risk of shock with low peripheral vascular resistance, seizures, coma, rhabdomyolysis and/or disseminated intravascular coagulation (DIC).
## Etiology
SSRIs and monoamine oxidase inhibitors (MAOIs) may be responsible for this syndrome at toxic but also at therapeutic concentrations. The syndrome may appear: -a few hours to a few days after the initiation of the treatment ; - following simultaneous combination (counter-indication) of MAOIs-A (toloxatone, moclobemide) and SSRIs or successive combination with an excessively short pill-free interval ; - as the result of drug-drug interactions ; - or in some cases of acute poisoning. Individual susceptibility and severity of clinical effects may be explained by interindividual pharmacokinetic and pharmacodynamic differences.
## Diagnostic methods
Diagnosis is based on clinical examination and compatible medical history. Additional investigations (ECG, laboratory examinations, toxicological analysis) are essential as clinical manifestations are not specific. Any acute infectious, neurological or metabolic diseases should be first excluded.
## Differential diagnosis
Differential toxicological diagnoses include neuroleptic malignant syndrome (see this term), adrenergic or anticholinergic syndromes as well as alcohol withdrawal syndrome.
## Management and treatment
Treatment is mainly supportive, based on sedation (benzodiazepines), mechanical ventilation, and even neuromuscular blockade, if necessary. In case of malignant hyperthermia, body cooling is mandatory. Dantrolene was proved inefficient. Cyproheptadine is the specific antidote for serotonin syndrome.
## Prognosis
Prognosis is generally good if adequate supportive treatments are administered. However, deaths have been reported, due to multiorgan failure or brain anoxia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Serotonin syndrome
|
c0699828
| 7,155 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43116
| 2021-01-23T17:12:45 |
{"mesh": ["D020230"], "umls": ["C0699828"], "synonyms": ["Serotonergic syndrome", "Serotonin storm", "Serotonin toxicity", "Serotonin toxidrome"]}
|
Tuffli and Laxova (1983) observed a 15-year-old boy with aplasia cutis verticis, hypohidrosis, nipple hypoplasia, onychodysplasia and delayed dental eruption with minor tooth anomalies who developed a large left adrenal cyst. The mother had similar changes of ectodermal dysplasia (including breast hypoplasia and lack of lactation) and had had a left 'renal abscess.' The combination of ectodermal manifestations was previously unknown as an autosomal dominant trait. The authors speculated that the ectodermal dysplasia and adrenal cyst might represent different manifestations of a fetal avascular dysplasia.
Inheritance \- Autosomal dominant Endocrine \- Adrenal cyst \- Alactia Nails \- Onychodysplasia Skin \- Aplasia cutis verticis \- Hypohidrosis Teeth \- Delayed dental eruption \- Minor tooth anomalies Thorax \- Breast hypoplasia \- Nipple hypoplasia ▲ 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
|
ECTODERMAL DYSPLASIA WITH ADRENAL CYST
|
c1851850
| 7,156 |
omim
|
https://www.omim.org/entry/129550
| 2019-09-22T16:41:54 |
{"mesh": ["C538015"], "omim": ["129550"], "orphanet": ["3391"]}
|
A - Cabot ring
B - Howell-Jolly body
Cabot ring
Cabot rings are thin, red-violet staining, threadlike strands in the shape of a loop or figure-8 that are found on rare occasions in red blood cells (erythrocytes). They are believed to be microtubules that are remnants from a mitotic spindle, and their presence indicates an abnormality in the production of red blood cells.[1] Cabot Rings, considerably rare findings, when present are found in the cytoplasm of red blood cells and in most cases, are caused by defects of erythrocytic production[2] and are not commonly found in the blood circulating throughout the body.[3]
## Contents
* 1 Cytologic appearance
* 2 Associated conditions
* 3 History
* 4 References
* 5 Further reading
* 6 External links
## Cytologic appearance[edit]
Cabot rings appear as ring, figure-8 or loop-shaped structures on microscopy. Cabot rings stain red or purple with Wright's stain.
## Associated conditions[edit]
Cabot rings have been observed in a handful of cases in patients with pernicious anemia, lead poisoning, certain other disorders of red blood cell production (erythropoiesis).[1]
## History[edit]
They were first described in 1903 by American physician, Richard Clarke Cabot (1868-1939).
## References[edit]
1. ^ a b McPherson, Richard A; MR Pincus. Henry's clinical diagnosis and management by laboratory methods (22nd ed.). Philadelphia, PA: Elsevier/Saunders. p. 526. ISBN 978-1437709742.
2. ^ "Cabot Rings - LabCE.com, Laboratory Continuing Education". www.labce.com. Retrieved 2017-05-04.
3. ^ "Cabot's Rings". www.chronolab.com. Archived from the original on 2018-05-14. Retrieved 2017-05-04.
## Further reading[edit]
* Kass, L (July 1975). "Origin and composition of Cabot rings in pernicious anemia". American Journal of Clinical Pathology. 64 (1): 53–7. doi:10.1093/ajcp/64.1.53. PMID 1155375.
## External links[edit]
* Microscopic Photo of Cabot Rings
* v
* t
* e
Blood film findings
Red blood cells
Size
* Anisocytosis
* Macrocytosis
* Microcytosis
Shape
* Poikilocytosis
* Membrane abnormalities
* Acanthocyte
* Codocyte
* Elliptocyte
* Hereditary elliptocytosis
* Spherocyte
* Hereditary spherocytosis
* Dacrocyte
* Echinocyte
* Schistocyte
* Degmacyte
* Sickle cell/drepanocyte
* Sickle cell disease
* Stomatocyte
* Hereditary stomatocytosis
Colour
* Anisochromia
* Hypochromic anemia
* Polychromasia
Inclusion bodies
* Developmental
* Howell–Jolly body
* Basophilic stippling
* Pappenheimer bodies
* Cabot rings
* Hemoglobin precipitation
* Heinz body
Other
* Red cell agglutination
* Rouleaux
White blood cells
Lymphocytes
* Reactive lymphocyte
* Smudge cell
* Russell bodies
Granulocytes
* Hypersegmented neutrophil
* Arneth count
* Pelger–Huët anomaly
* Döhle bodies
* Toxic granulation
* Toxic vacuolation
* Critical green inclusion
* Alder–Reilly anomaly
* Jordans' anomaly
* Birbeck granules
* Left shift
Other
* Auer rod
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cabot rings
|
c0333813
| 7,157 |
wikipedia
|
https://en.wikipedia.org/wiki/Cabot_rings
| 2021-01-18T18:52:23 |
{"umls": ["C0333813"], "wikidata": ["Q4892104"]}
|
Daum et al. (1958) described a 6-month-old child with frontal bone protrusion, encephalocele, craniosynostosis, and developmental retardation. Jabbour and Taybi (1964) reported a similarly affected child whose condition they designated craniotelencephalic dysplasia. Hughes et al. (1983) reported 2 affected sisters and described the autopsy findings in 1. These included septooptic dysplasia (optic nerve hypoplasia and absent septum pellucidum), agenesis of the corpus callosum, lissencephaly, and arhinencephaly. In 1 sib, the forehead had the appearance of a frontal encephalocele.
See septooptic dysplasia (182230).
HEENT \- Frontal bone protrusion \- Frontal encephalocele \- Craniosynostosis \- Microphthalmia \- Hypotelorism \- Preauricular skin tags Neuro \- Developmental retardation \- Optic nerve hypoplasia \- Absent septum pellucidum \- Agenesis of corpus callosum \- Lissencephaly \- Arhinencephaly \- Hypoplastic cerebellum \- Absent medullary pyramids Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
CRANIOTELENCEPHALIC DYSPLASIA
|
c1857471
| 7,158 |
omim
|
https://www.omim.org/entry/218670
| 2019-09-22T16:29:14 |
{"mesh": ["C535597"], "omim": ["218670"], "orphanet": ["1528"]}
|
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Muscular dystrophy
|
c0026850
| 7,159 |
gard
|
https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy
| 2021-01-18T17:58:52 |
{"mesh": ["D009136"], "umls": ["C0026850"], "synonyms": []}
|
A number sign (#) is used with this entry because dystonia-25 (DYT25) is caused by heterozygous mutation in the GNAL gene (139312) on chromosome 18p11.
Description
Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by Fuchs et al., 2013).
Clinical Features
Bressman et al. (1994) reported a large multigenerational non-Jewish family of German ancestry in which 7 individuals had primary torsion dystonia. The mean age at onset was 28.4 years (range, 7 to 50). Six of the 7 had onset in the neck; the seventh had onset in the toes at age 7, but later had more severe neck involvement at age 17. All patients noted progression of dystonia to involve other body regions, most commonly the face, but also the tongue, larynx, jaw, and trunk. Five had abnormal speech. Some patients had mild limb involvement, resulting in abnormal writing. Treatment with levodopa was not beneficial.
Fuchs et al. (2013) reported 28 patients from 8 families with autosomal dominant primary torsion dystonia, including the family reported by Bressman et al. (1994), which was referred to as family D1. The average age of onset was 31.3 years (range, 7 to 54 years), and most (82%) had focal onset in the neck. However, progression of dystonia usually spread to other sites. Cranial involvement was present in 57%, and 44% had speech involvement. About a third of patients eventually had limb involvement.
Inheritance
The transmission pattern of dystonia-25 in the families reported by Fuchs et al. (2013) was consistent with autosomal dominant inheritance.
Molecular Genetics
By exome sequencing of 2 large families with autosomal dominant dystonia, Fuchs et al. (2013) identified 2 different heterozygous mutations in the GNAL gene (139312.0001 and 139312.0002, respectively) that segregated with the disorder. Screening of the GNAL gene identified heterozygous pathogenic mutations (see, e.g., 139312.0003-139312.0006) in 6 of 39 additional families with a similar disorder. The GNAL gene encodes a stimulatory alpha-subunit of G proteins with high expression in the basal ganglia. In vitro functional expression studies in a cell-based bioluminescence reporter system indicated that a nonsense mutation (S293X; 139312.0002) did not support any DRD1 (126449)-driven responses, whereas wildtype GNAL caused a rapid increase in the signal. A V137M missense mutation (139312.0001) showed an intermediate phenotype, consistent with impaired association of G(s)-olf with the G-beta-gamma subunits. The findings suggested that the mutations resulted in a loss of function. The identification of GNAL mutations indicated that primary abnormalities in postsynaptic DRD1 and/or ADORA2A (102776) transmission in the basal ganglia may lead to dystonia.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Facial dystonia Mouth \- Tongue dystonia \- Jaw dystonia Neck \- Torticollis RESPIRATORY Larynx \- Laryngeal dystonia NEUROLOGIC Central Nervous System \- Dystonia, focal \- Limb dystonia VOICE \- Dysphonia MISCELLANEOUS \- Average age at onset 31 years (range 7 to 54) \- Onset usually in the neck \- Dystonia is usually focal or segmental \- Generalized dystonia in some cases MOLECULAR BASIS \- Caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type gene (GNAL, 139312.0001 ) ▲ 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
|
DYSTONIA 25
|
c3554447
| 7,160 |
omim
|
https://www.omim.org/entry/615073
| 2019-09-22T15:53:15 |
{"doid": ["0090055"], "omim": ["615073"], "orphanet": ["329466"], "synonyms": ["DYT25", "Dystonia 25"], "genereviews": ["NBK535640"]}
|
Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.
## Epidemiology
The disease is rare, but the exact prevalence is unknown.
## Clinical description
Onset usually occurs between 30 and 50 years of age. Cutaneous lesions are mainly localized on the back, face, neck, shoulders, arms, and hands (sun-exposed skin). Their diameter usually varies between 2 mm and 2 cm. They consist of annular, pink or red papules, sometimes resulting in plaques. No follicular plugging or atrophy appears on the surface of the lesions. The lesions may be singular (approximately 15% of cases) or multiple. When multiple, they are often grouped with an arciform disposition. The lesions may remain unchanged for several months. Onset or exacerbation of the lesions may occur after sun exposure. In general, the lesions are asymptomatic, but they may be sometimes associated with a burning sensation or pruritus. They may spontaneously disappear, without resulting scars.
## Etiology
JLIS is an inflammatory disease of unknown etiology caused by an accumulation of T cells within the dermis of the skin. A history of photosensitivity may be associated with the disease.
## Diagnostic methods
The diagnosis is based on examination of a routine skin biopsy sample, revealing nodular perivascular or periadnexal lymphocytes, and dermal infiltration under a normal or only slightly modified epidermis. Direct immunofluorescence analyses are usually negative (absence of lupus band test).
## Differential diagnosis
Differential diagnoses include granuloma annulare, granuloma faciale, cutaneous B-cell lymphomas (see this term) and idiopathic photodermatoses such as polymorphic light eruption. The differential diagnosis with lupus erythematosus tumidus (LET, see this term) is much more difficult and some recent studies suggest JLIS cannot be separated from LET.
## Management and treatment
Treatment of JLIS is not mandatory in all cases. Antimalarial drugs (chloroquine and hydroxychloroquine) are generally used asa first line therapy. Thalidomide may also be used, but is strictly contraindicated for pregnant women and women of childbearing age without contraception. Management also includes photoprotection. Remission, exacerbation or spontaneous resolution may occur.
## Prognosis
The overall prognosis is favorable and no systemic involvement has been reported so far.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Jessner lymphocytic infiltration of the skin
|
c0580181
| 7,161 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33314
| 2021-01-23T18:29:13 |
{"gard": ["6940"], "umls": ["C0580181"], "icd-10": ["L98.6"], "synonyms": ["Jessner-Kanof lymphocytic infiltration of the skin"]}
|
A number sign (#) is used with this entry because of evidence that spermatogenic failure-35 (SPGF35) is caused by homozygous mutation in the QRICH2 gene (618304) on chromosome 17q25.
Description
Spermatogenic failure-35 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019).
Clinical Features
Shen et al. (2019) studied 2 unrelated infertile men (PA and PB) from consanguineous Chinese families. Semen analysis showed normal sperm quantity, but 99% of spermatozoa exhibited abnormalities in the tail region, and almost no progressive motility was observed. Scanning electron microscopy revealed spermatozoa with short tails, thickened short tails, coiled tails, and absent tails. Transmission electron microscopy demonstrated a variety of ultrastructural defects, including complete absence of the microtubule central pair, irregular arrangement and disorganization of the outer doublet and outer dense fibers, and an atypical 6+0 composition of axonemal microtubules. One of the men had an affected brother.
Inheritance
Consanguinity in the 2 families segregating spermatogenic failure reported by Shen et al. (2019), as well as 2 affected brothers in 1 family, suggested autosomal recessive inheritance.
Molecular Genetics
In 2 unrelated men from consanguineous Chinese families with infertility due to multiple morphologic abnormalities of the flagella, Shen et al. (2019) performed whole-exome sequencing and identified homozygosity for nonsense mutations in the QRICH2 gene: patient PA was homozygous for an L64X variant (618304.0001), for which his affected brother was also homozygous; and patient PB was homozygous for an R1013X mutation (618304.0002). Each mutation segregated with disease in the respective family and neither was found in 200 fertile Han Chinese men. Screening of the QRICH2 gene in 150 infertile men with asthenozoospermia revealed 6 men with heterozygous QRICH2 variants that were not found in the controls. Noting that mice heterozygous for Qrich2 showed reduced sperm motility, Shen et al. (2019) suggested that deleterious heterozygous mutations in QRICH2 might contribute to asthenozoospermia.
INHERITANCE \- Autosomal recessive GENITOURINARY Internal Genitalia (Male) \- Infertility \- Reduced progressive motility of spermatozoa, severe \- Short sperm flagella \- Thickened short sperm flagella \- Coiled sperm flagella \- Absent sperm flagella \- Absence of microtubule central pair in some flagella \- Irregular arrangement and disorganization of outer doublet \- Irregular arrangement and disorganization of outer dense fibers \- Atypical 6+0 composition of axonemal microtubules MOLECULAR BASIS \- Caused by mutation in the glutamine-rich protein-2 gene (QRICH2, 618304.0001 ) ▲ 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
|
SPERMATOGENIC FAILURE 35
|
None
| 7,162 |
omim
|
https://www.omim.org/entry/618341
| 2019-09-22T15:42:27 |
{"omim": ["618341"]}
|
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates nerve fibers and promotes the rapid transmission of nerve impulses.
LTBL is characterized by distinct changes in the brain, which can be seen using magnetic resonance imaging (MRI). These abnormalities typically involve white matter in regions of the brain known as the cerebrum and cerebellum. Abnormalities can also be seen in other regions of the brain, including the brainstem, which is the part that connects to the spinal cord. Affected brain regions include the thalamus, midbrain, pons, and medulla oblongata. Thinning of the tissue that connects the left and right halves of the brain (the corpus callosum) also occurs in people with LTBL. In addition, most affected individuals have a high level of a substance called lactate in the brain and elsewhere in the body.
The severity of the condition varies. Mildly affected individuals usually develop signs and symptoms after the age of 6 months. Loss of mental and movement abilities (psychomotor regression), muscle stiffness (spasticity), and extreme irritability are common, and some people with mild LTBL develop seizures. However, after age 2, the signs and symptoms of the condition improve: affected children regain some psychomotor abilities, seizures are reduced or disappear, MRI results become more normal, and lactate levels drop.
Severely affected individuals have features that begin soon after birth. These infants typically have delayed development of mental and movement abilities (psychomotor delay), weak muscle tone (hypotonia), involuntary muscle tensing (dystonia), muscle spasticity, and seizures. Some have extremely high levels of lactate (lactic acidosis), which can cause serious breathing problems and an abnormal heartbeat. Liver failure occurs in some severely affected infants. In severe cases, the signs and symptoms do not improve and can be life-threatening. In some people with LTBL, the features fall between mild and severe.
## Frequency
LTBL is a rare condition. While its prevalence is unknown, at least 19 cases have been described in the medical literature.
## Causes
LTBL is caused by mutations in the EARS2 gene, which provides instructions for making an enzyme called mitochondrial glutamyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the cell nucleus (cytoplasm), some proteins are synthesized in the mitochondria.
During protein synthesis, in either the mitochondria or the cytoplasm, building blocks called amino acids are connected together in a specific order, creating a chain of amino acids that forms the protein. Mitochondrial glutamyl-tRNA synthetase plays a role in adding the amino acid glutamate at the proper place in mitochondrial proteins.
Mutations in the EARS2 gene likely reduce the amount of mitochondrial aspartyl-tRNA synthetase protein, which hinders the addition of glutamate to mitochondrial proteins. Researchers speculate that impaired protein assembly disrupts mitochondrial energy production. However, it is unclear how a reduction of mitochondrial aspartyl-tRNA synthetase specifically affects certain brain regions, causing LTBL.
### Learn more about the gene associated with Leukoencephalopathy with thalamus and brainstem involvement and high lactate
* EARS2
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
|
c3554079
| 7,163 |
medlineplus
|
https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate/
| 2021-01-27T08:24:53 |
{"omim": ["614924"], "synonyms": []}
|
A clinical photograph showing a patient with the flexed posture. It can be abated when lying down.[1]
Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of the lower joints of the spine, occurring in a standing position. In order to be classified as BSS, the anterior flexion (the lower back bending) must be of 45 degrees anteriorly. This classification differentiates it from a similar syndrome known as kyphosis.[2] Although camptocormia is a symptom of many diseases, there are two common origins: neurological and muscular. Camptocormia is treated by alleviating the underlying condition causing it through therapeutic measures or lifestyle changes.
## Contents
* 1 History and society
* 1.1 Camptocormia in the elderly
* 2 Characteristics and symptoms
* 3 Pathology
* 3.1 Muscular origin
* 3.2 Neurological origin
* 3.3 Gene mutations
* 4 Diagnosis
* 5 Treatment and prognosis
* 5.1 Treatment and management
* 5.2 Outcome and prognosis
* 6 Research directions
* 6.1 Deep brain stimulation
* 7 References
## History and society[edit]
Alexandre-Achille Souques was one of the first major researchers of camptocormia and created the definition and name used for the condition to this day.
Camptocormia comes from two Greek words, meaning "to bend" (κάμπτω, kamptō) and "trunk" (κόρμος, kormos), and was coined by Alexandre-Achille Souques and B. Rosanoff-Saloff. These two men also created the definition of the disease that is widely accepted today.[2]
When the disorder was first clinically studied around the time of First World War, it was believed to be a psychogenic conversion disorder that resulted from the severe trauma of war. Souques and others treated patients with psychological therapy and early versions of electrotherapy. Samuel A. Sandler used a similar approach to treat soldiers during the Second World War.[2] The view of BSS as a conversion disorder led to a lack of awareness about the conditions and few diagnoses by physicians.
As time progressed and advances were made in knowledge of neuroscience and physiology, biological mechanisms behind the irregular bending were identified. The current medically preferred term for the condition is bent spine syndrome, because of the psychological origin associated with camptocormia.[2]
### Camptocormia in the elderly[edit]
BSS is not limited to the elderly but has an average age of onset of 66 years[2] and is more common amongst men. This late age of onset is largely due to the increased preponderance of the conditions causing the symptom in older individuals – such as muscular weakness and neurological disorders like Parkinson's disease. While BSS doesn’t have any negative stigma in and of itself, those affected by it may be perceived differently due to the condition. For example, an elderly individual afflicted with the condition may be viewed as very physically weak, because of the severe bending of the back caused by the condition.
## Characteristics and symptoms[edit]
The primary symptom of camptocormia is abnormal forward bending of the torso. This bending becomes worse while walking but does not appear when the affected individual is lying down in a horizontal position. This alleviation of the condition indicates that it is a manifestation of another disease or ailment and is not due to a spine that is actually bent.[2] This is somewhat ironic, since the medically accepted name for the condition is bent spine syndrome.
In an afflicted individual, the abnormal bending consists of an anterior flexion greater than 45 degrees.[3] Because of this bending and the physical limitations caused by the conditions associated with the disease, it is usually impossible for an afflicted person to achieve a fully erect position. In addition, patients suffering from camptocormia often experience low back pain as a result of the condition. BSS often appears in individuals afflicted with Parkinson’s disease, muscular dystrophies, endocrine disorders, inflammatory conditions (myositis), or mitochondrial myopathies.[1] As previously mentioned, the disease is more common in older individuals.
## Pathology[edit]
When initially identified, camptocormia was classified as a psychogenic disease. Although the condition is sometimes a psychogenic manifestation, camptocormia typically originates from either muscular or neurological diseases. However, due to the wide variety of pathologies resulting in camptocormia, there is no singular cause that is most influential for the condition.
### Muscular origin[edit]
Myopathic origin BSS can be secondary to various muscular disorders or occur as a primary idiopathy.[2] These etiologies are termed secondary and primary BSS respectively. Idiopathic primary BSS is a late-onset myopathy with progressive muscular weakness that is detected on the spinal extensor muscles in elderly patients and is more predominant in females.[2] The pathogenesis of primary BSS is typically related to fibrosis and fatty infiltration of muscular tissues and to mitochondrial changes due to the aging process.[2] Specifically, weakening occurs in the paravertebral muscles of patients. These paravertebral muscles have a great influence over the walking stance and gait of a patient, so fatty infiltration and degradation of these muscle lead to the characteristics that easily define BSS, such as the anterior flexion of the back combined with an ability to keep upright with any kind of support (e.g., holding onto a table).[3]
Secondary BSS can have a multitude of causes, making it hard to pinpoint to a specific muscular disorder. Some examples of diseases that have secondary BSS as a symptom are myopathies caused by muscular dystrophies, neuromuscular disorders, and inflammatory muscle diseases; metabolic or endocrine disorders; and mitochondrial myopathies.[2] A muscle biopsy can clearly demonstrate whether primary BSS or secondary BSS is afflicting a patient, because primary BSS is much more identifiable.
### Neurological origin[edit]
A multitude of neurological disorders cause BSS, including motor neuron disease, CNS disorders, and early amyotrophic lateral sclerosis.[2] Usually, the bent spine is caused by dysfunctioning extensor spinal muscles with a neurological cause.
Neurological origin BSS may also result from damage to the basal ganglia nuclei that are a part of the cerebral cortex, which play a major role in bodily positioning. Damage to this part of the brain can inhibit proper flexion and extension in the muscles necessary for maintaining an upright position. Additionally, the neurotransmitter dopamine plays a key role in the operation of basal ganglia. An abnormally low dopamine concentration, such as that associated with Parkinson’s disease, causes dysfunction in the basal ganglia and the associated muscle groups, leading to BSS.[2] Studies have estimated the prevalence of BSS in people affected by Parkinson's to be between 3% and 18%.[1]
### Gene mutations[edit]
Several gene mutations have been identified in patients with camptocormia. These include the RYR1 gene in axial myopathy, the DMPK gene in myotonic dystrophy, and genes related to dysferlinopathy and Parkinson’s disease. These genes could serve as targets for gene therapy to treat the condition in the years to come.[4]
## Diagnosis[edit]
In order to qualify a patient's condition as BSS, the bending angle must be greater than 45 degrees. While the presence of the condition is very easy to note, the cause of the condition is much more difficult to discern. Conditions not considered to be BSS include vertebral fractures, previously existing conditions, and ankylosing spondylitis. Lower-back CT scans and MRIs can typically be used to visualize the cause of the disease.[4] Further identification of the cause can be done by histochemical or cellular analysis of muscle biopsy.
Spinal-muscle biopsy showing intense endomysial deposit of fibrosis (green) and fatty infiltration. Also observable is irregular distribution of involuted muscle fibers. (Trichrome, original magnification ×9100)[2]
Camptocormia is becoming progressively found in patients with Parkinson's disease.[3] The diagnosis of Parkinson's-associated camptocormia includes the use of imaging of the brain and the spinal cord, along with electromyography or muscle biopsies.
Muscle biopsies are also a useful tool to diagnose camptocormia. Muscle biopsies found to have variable muscle fiber sizes and even endomysial fibrosis may be markers of bent spine syndrome. In addition, disorganized internal architecture and little necrosis or regeneration is a marker of camptocormia.
Patients with camptocormia present with reduced strength and stooped posture when standing due to weakened paraspinous muscles (muscles parallel to the spine). Clinically, limb muscles show fatigue with repetitive movements.[4] Paraspinous muscles undergo fat infiltration. Electromyography may be used as well in diagnosis. On average, the paraspinous muscles of affected individuals were found to be 75% myopathic, while limb muscles were 50% percent myopathic.[4] Creatine kinase activity levels in skeletal muscle are a diagnostic indicator that can be identifiable through blood tests.
## Treatment and prognosis[edit]
### Treatment and management[edit]
Thymatron IV used for electroconvulsive therapy
Due to the wide range of causes of camptocormia, there is no one treatment that suits all patients. In addition, there is no specific pharmacological treatment for primary BSS. The use of analgesic drugs depends entirely on the intensity of the back pain. Muscular-origin BSS can be alleviated by positive lifestyle changes, including physical activity, walking with a cane, a nutritious diet, and weight loss. Worsening of symptoms is possible but rare in occurrence.[2]
Treatment of the underlying cause of the disease can alleviate the condition in some individuals with secondary BSS. Other treatment options include drugs, injections of botulinum toxin, electroconvulsive therapy, deep brain stimulation, and surgical correction.[5] Unfortunately, many of the elderly individuals affected by the BSS are not treated surgically due to age-related physical ailments and the long postoperative recovery period.[3]
### Outcome and prognosis[edit]
This condition can lead to excess pressure on the spine, causing pain and discomfort.[4] If the spine is bent too far, a patient may have difficulties breathing because of the pressure of the spine pressed against the lungs. Camptocormia may also lead to muscle weakness in the upper back and to arthritis and other bone-degeneration diseases.[4] Because of loss of bone strength, injury to the spine and slipped discs become increasingly significant. Camptocormia can lead to infection, tumors, and diseases of the endocrine system and connective tissues. The success of the treatment method is largely dependent on the patient, but response to therapeutic methods is generally low.
## Research directions[edit]
Typical deep brain stimulation setup
Clinical studies have revealed that camptocormia may be hereditary; however, the inheritance mechanism remains unclear.[2] Current areas of research include molecular and genetic studies aimed at elucidating a possible inheritance model along with molecular pathological mechanisms and proteins responsible for BSS. This research will help will facilitate improvement in the classification, diagnosis, and treatment of the condition. In addition, new technologies and animal models of postural abnormalities are being developed to understand camptocormia and design more effective treatment methods.[4]
### Deep brain stimulation[edit]
One treatment methodogy that is very promising for the treatment of camptocormia is deep brain stimulation. Previously, deep brain stimulation and bilateral stimulation of the subthalamic nucleus and/or globus pallidus internus have been used to treat patients with Parkinson's disease.[5] Studies have shown that similar treatments could be used on patients with severe camptocormia. By using the Burke-Fahn-Marsden Dystonia Rating Scale before and after treatment, it was found that patients experienced significant functional improvement in the ability to walk.[5]
## References[edit]
1. ^ a b c Shinjo, Samuel Katsuyuki; Torres, Silvia Carolina Ramos; Radu, Ari Stiel (2008-06-01). "Camptocormia: A Rare Axial Myopathy Disease". Clinics (Sao Paulo, Brazil). 63 (3): 416–417. doi:10.1590/S1807-59322008000300024. ISSN 1807-5932. PMC 2664236. PMID 18568258.
2. ^ a b c d e f g h i j k l m n o Lenoir, Thibaut; Guedj, Nathalie; Boulu, Philippe; Guigui, Pierre; Benoist, Michel (2010-03-19). "Camptocormia: the bent spine syndrome, an update". European Spine Journal. 19 (8): 1229–1237. doi:10.1007/s00586-010-1370-5. ISSN 0940-6719. PMC 2989190. PMID 20300781.
3. ^ a b c d Azher, Shaheda N.; Jankovic, Joseph (2005-08-09). "Camptocormia: pathogenesis, classification, and response to therapy". Neurology. 65 (3): 355–359. doi:10.1212/01.wnl.0000171857.09079.9f. ISSN 1526-632X. PMID 16087897.
4. ^ a b c d e f g Finsterer, Josef; Strobl, Walter (2010). "Presentation, Etiology, Diagnosis, and Management of Camptocormia". European Neurology. 64 (1): 1–8. doi:10.1159/000314897. PMID 20634620.
5. ^ a b c Hagenacker, Tim; Gerwig, Marcus; Gasser, Thomas; Miller, Dorothea; Kastrup, Oliver; Jokisch, Daniel; Sure, Ulrich; Frings, Markus (July 2013). "Pallidal deep brain stimulation relieves camptocormia in primary dystonia". Journal of Neurology. 260 (7): 1833–1837. doi:10.1007/s00415-013-6885-3. PMID 23483215.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Camptocormia
|
c0264162
| 7,164 |
wikipedia
|
https://en.wikipedia.org/wiki/Camptocormia
| 2021-01-18T18:50:47 |
{"mesh": ["C537968"], "wikidata": ["Q1723395"]}
|
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-21 (CILD21) is caused by homozygous mutation in the DRC1 gene (615288) on chromosome 2p23.
Description
Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Carlen et al. (2003) reported 2 Swedish brothers with primary ciliary dyskinesia. Both had repeated upper and lower respiratory tract infections and recurrent otitis media since birth. They also reported an unrelated Swedish woman with similar symptoms, including sinusitis and pulmonary atelectasis. None of the patients had situs inversus. Transmission electron microscopy of nasal brush biopsies showed normal 9+2 ciliary patterns and the outer and inner dynein arms and radial spokes also appeared normal. However, nexin links could not be discerned, and some of the cilia appeared disorganized. Nasal nitric oxide (NO) was consistently low.
Wirschell et al. (2013) reported a 15-year-old Austrian boy of Turkish ancestry with primary ciliary dyskinesia. The patient had neonatal respiratory distress, recurrent pneumonia since infancy, and chronic suppurative otitis media and chronic sinusitis. CT scan at age 12 years showed showed bronchiectasis, and nasal NO production was decreased, consistent with primary ciliary dyskinesia. Nasal respiratory cilia showed normal outer doublet microtubules, but careful analysis of the cross-sections identified more subtle ultrastructural changes indicative of alterations in the nexin-dynein regulatory complex, which regulates dynein motors. Mutant respiratory cilia lacked nexin links in all the analyzed cross-sections.
Inheritance
The transmission pattern of CILD21 in the families reported by Wirschell et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 patients, including 2 sibs, with primary ciliary dyskinesia, Wirschell et al. (2013) identified homozygous truncating mutations in the DRC1 gene (615288.0001 and 615288.0002). The first mutation was found using homozygosity mapping combined with candidate gene sequencing. Examination of the mutant respiratory cilia showed normal inner and outer dynein arms, but nexin links were lacking, and there was decreased expression of the DRC proteins GAS8 (605178) and LRRC48, confirming that DRC1 deficiency disrupts assembly of the nexin-dynein regulatory complex. Video microscopy of patient cilia showed an increased beat frequency with decreased bending amplitude.
Animal Model
Wirschell et al. (2013) reported that the Chlamydomonas mutant pf3, which lacks Drc1, has defective assembly of the ciliary nexin-dynein regulatory complex and the calmodulin (see 114180) spoke-associated complex.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Sinusitis, chronic Ears \- Otitis media, recurrent RESPIRATORY \- Respiratory infections, recurrent, due to defective ciliary clearance Airways \- Electron microscopy of patient respiratory cells shows normal inner and outer dynein arms, but lack of nexin links \- Respiratory epithelia show increased beat frequency, but decreased bending amplitude Lung \- Bronchiectasis \- Atelectasis LABORATORY ABNORMALITIES \- Decreased nasal nitric oxide MISCELLANEOUS \- Onset in early infancy \- Four patients have been reported (last curated June 2013) MOLECULAR BASIS \- Caused by mutation in the dynein regulatory complex, subunit 1 gene (DRC1, 615288.0001 ) ▲ 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
|
CILIARY DYSKINESIA, PRIMARY, 21
|
c0022521
| 7,165 |
omim
|
https://www.omim.org/entry/615294
| 2019-09-22T15:52:36 |
{"doid": ["0110596"], "mesh": ["D007619"], "omim": ["244400", "615294"], "orphanet": ["244"], "synonyms": ["Alternative titles", "PCD", "CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS"], "genereviews": ["NBK1122"]}
|
A red oscar that has died while showing HLLE
Head and lateral line erosion, (HLLE) or hole-in-the-head (HITH) is a disease in fish. Chronic ulcerative dermatopathy or chronic erosive dermatopathy are symptoms of similar conditions with different etiology.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Cure
* 4 References
## Symptoms[edit]
HLLE begins as small pits of receding epithelium (skin) around the fish's head and/or lateral line, and sometimes onto the unpaired fins. Rarely fatal, it does cause disfigurement, making the fish less suitable for public aquarium display. At least 20 families of fish have been identified as having developed HLLE in captivity. Not all species of fish show the same symptoms, and do not always develop lesions to the same degree.[1]
## Causes[edit]
HLLE has not been sufficiently studied to identify all causes. In marine fish, two studies point to the use of activated carbon in closed aquarium ecosystems as contributors.[2] [3]
## Cure[edit]
Hole in the head can be reversed by removing all activated carbon and conducting large percentage water changes. Greater than 90% water changes may need to be done to reduce the effects of activated carbon. More commonly, cures are made by moving the fish to a new aquarium that has never had fish develop HLLE in it.[4][5]
## References[edit]
1. ^ (Hemdal 2006).
2. ^ Jay Hemdal & R. Andrew Odum (2011): The Role of Activated Lignite Carbon in the Development of Head and Lateral Line Erosion in the Ocean Surgeon, North American Journal of Aquaculture, 73:4, 489-492
3. ^ Stamper MA, Kittell MM, Patel EE, Corwin AL. J Aquat Anim Health. 2011 Sep;23(3):111-6. doi: 10.1080/08997659.2011.608608. Effects of full-stream carbon filtration on the development of head and lateral line erosion syndrome (HLLES) in ocean surgeon. .
4. ^ http://microcosmaqx.typepad.com/jay_hemdal/2009/02/hlle-survey.html
5. ^ "Mastering Freshwater Aquarium Ecosystems". Tony Griffitts (2012). aquaworldaquarium.com.
* v
* t
* e
Fish diseases and parasites
Pathogens
* Aeromonas salmonicida
* Nervous necrosis virus
* Columnaris
* Enteric redmouth
* Fin rot
* Fish dropsy
* Flavobacterium
* Hematopoietic necrosis
* Heterosigma akashiwo
* Hole in the head
* Hypodermal and hematopoietic necrosis
* Infectious pancreatic necrosis
* Koi herpes virus
* Mycobacterium marinum
* Novirhabdovirus
* Pfiesteria piscicida
* Photobacterium damselae ssp piscicida
* Salmon anemia
* Streptococcus iniae
* Spring viraemia of carp
* Taura syndrome
* UDN
* VHS
* White spot
* Yellowhead
Parasites
* Abergasilus
* Amoebic gill disease
* Anisakis
* Carp lice
* Ceratomyxa shasta
* Clinostomum marginatum
* Dactylogyrus vastator
* Diphyllobothrium
* Cymothoa exigua
* Eustrongylidosis
* Epizootic ulcerative syndrome
* Flukes
* Glugea
* Gyrodactylus salaris
* Henneguya zschokkei
* Ich (freshwater)
* Ich (marine)
* Kudoa thyrsites
* Lernaeocera branchialis
* Microsporidia
* Monogenea
* Myxobolus cerebralis
* Myxosporea
* Nanophyetus salmincola
* Pseudorhabdosynochus spp.
* Salmon lice
* Saprolegnia
* Schistocephalus solidus
* Sea louse
* Sphaerothecum destruens
* Swim bladder disease
* Tetracapsuloides bryosalmonae
* Velvet
* Xenoma
Fish groups
* Diseases and parasites in cod
* Diseases and parasites in salmon
* Disease in ornamental fish
* List of aquarium diseases
Related topics
* Amnesic shellfish poisoning
* Brevetoxin
* Ciguatera
* Diarrheal shellfish poisoning
* Fish kill
* Marine viruses
* Neurotoxic shellfish poisoning
* Paralytic shellfish poisoning
* Saxitoxin
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Head and lateral line erosion
|
None
| 7,166 |
wikipedia
|
https://en.wikipedia.org/wiki/Head_and_lateral_line_erosion
| 2021-01-18T18:28:31 |
{"wikidata": ["Q5689273"]}
|
Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.
## Frequency
This condition appears to be rare; it has been reported in only a few individuals and families worldwide.
## Causes
Mutations in the SCN4A gene cause potassium-aggravated myotonia.
The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.
Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. The influx of extra sodium ions triggers prolonged muscle contractions, which are the hallmark of myotonia.
### Learn more about the gene associated with Potassium-aggravated myotonia
* SCN4A
## Inheritance Pattern
Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Potassium-aggravated myotonia
|
c2931826
| 7,167 |
medlineplus
|
https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia/
| 2021-01-27T08:25:02 |
{"gard": ["4459"], "mesh": ["C538353"], "omim": ["608390"], "synonyms": []}
|
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (April 2009) (Learn how and when to remove this template message)
Juvenile dermatomyositis
Juvenile dermatomyositis
SpecialtyRheumatology
Juvenile dermatomyositis (JDM) is an idiopathic inflammatory myopathy (IMM) of presumed autoimmune dysfunction resulting in muscle weakness among other complications. It manifests itself in children; it is the pediatric counterpart of dermatomyositis. In JDM, the body's immune system attacks blood vessels throughout the body, causing inflammation called vasculitis. In the United States, the incidence rate of JDMS is approximately 2-3 cases per million children per year. The UK incidence is believed to be between 2-3 per million children per year, with some difference between ethnic groups. The sex ratio (Female : Male) is approximately 2:1. Other Idiopathic inflammatory myopathies include; juvenile polymyositis (PM), which is rare and not as common in children as in adults.
## Contents
* 1 Signs and symptoms
* 1.1 Progression
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Gallery
* 7 References
* 8 External links
## Signs and symptoms[edit]
The vasculitis caused by JDMS manifests itself predominantly in two ways:
One is a distinctive rash. The rash often affects the face, eyelids, and hands, and sometimes the skin above joints, including the knuckles, knees, elbows, etc. The color of the rash is a pinkish purple, and is called heliotrope (after a flower of the same name with approximately this color). On the hands and face, the rash very closely resembles allergies, eczema, fifth disease, or other more common skin condition, but the heliotrope color is unique to the inflammatory process of JDMS. Some children develop calcinosis, which are calcium deposits under the skin. The rash is the source of the "dermato-" part of the name of the disease.[citation needed]
The second symptom caused by vasculitis is muscle inflammation. This symptom is the source of the "-myositis" part of the name of the disease ("myo" = muscle, "-itis" = inflammation of). Muscle Inflammation causes muscle weakness, which can cause fatigue, clumsiness, not keeping up physically with peers, and eventually inability to perform tasks like climbing stairs, lifting objects, and performing other manual tasks. Other signs may include falling, dysphonia, or dysphagia. The muscle weakness often causes a medical misdiagnosis of muscular dystrophy or other muscle disease. Some patients develop contractures, when the muscle shortens and causes joints to stay bent; exercise, occupational therapy, and physical therapy can prevent this. The muscles first affected tend to be proximal (i.e., neck, shoulders, back, and abdominal). About half of children with JDMS also have pain in their muscles.[1]
Other symptoms may include irritability, weight loss, and mouth ulcers.[2] When a child becomes irritable, fatigued, reluctant to socialize, and the face becomes flushed easily, physicians refer to this constellation of symptoms as "misery."[3]
### Progression[edit]
The speed of the progression of JDMS is highly variable. Nearly all JDM patients have some skin involvement. The JDMS rash usually occurs as the initial symptom. Sometimes it is so slight as not to be recognized for what it is until muscle symptoms appear. Sometimes muscle symptoms never appear at all or occur very gradually over the course of months, and sometimes going from normal strength to being unable to walk within days. Usually, muscle symptoms appear weeks to months after the onset of the rash.[citation needed]
## Cause[edit]
The underlying cause of JDM is unknown. It most likely has a genetic component, as other autoimmune disease tend to run in the families of patients. The disease is usually triggered by a condition that causes immune system activity that does not stop as it should, but the trigger is almost certainly not the cause in most cases. Common triggers include immunizations, infections, injuries, and sunburn.[citation needed]
## Diagnosis[edit]
Proximal muscle weakness, characteristic skin rash and elevated muscle enzymes are routinely used to identify JDM. Typical magnetic resonance imaging and muscle biopsy changes are considered the next most useful diagnostic criteria, followed by myopathic changes on electromyogram, calcinosis, dysphonia and nailfold capillaroscopy. Other useful criteria include myositis-specific or -related antibodies, nailfold capillaroscopy, factor VIII-related antigen, muscle ultrasound, calcinosis and neopterin.[4]
## Treatment[edit]
Once a diagnosis of JDMS is made, the treatment is often a 3-day course of Intravenous ("pulse") steroids (methylprednisolone, Solu-Medrol), followed by a high dose of oral prednisone (usually 1–2 mg/kg of body weight) for several weeks. This action usually brings the disease under control, lowering most lab tests to or near normal values. Some minor improvement in muscle symptoms may also be seen in this time, but normally it takes a long time for full muscle strength to be regained.[citation needed]
Once the disease process is under control, oral steroids are tapered gradually to minimize their side effects. Often, steroid-sparing drugs, such as methotrexate[5] (a chemotherapy drug) or other DMARDs, are given to compensate for the reduction in oral steroids. Once the oral steroids are reduced to a less toxic level, the sparing agents can also be gradually withdrawn. Lab results are closely monitored during the tapering process to ensure that the disease does not recur.[citation needed]
In the cases where steroids or second-line drugs are not tolerated or are ineffective, there are other treatments that can be tried. These include other chemotherapy drugs, such as ciclosporin, infliximab, or other DMARDs. Another is intravenous immunoglobulin (IVIg), a blood product that has been shown to be very effective against JDMS.[citation needed]
To treat the skin rash, anti-malarial drugs, such as hydroxychloroquine (Plaquenil) are usually given. Topical steroid creams (hydrocortisone) may help some patients, and anti-inflammatory creams (such as tacrolimus) are proving to be very effective. Dry skin caused by the rash can be combatted by regular application of sunscreen or any moisturizing cream. Most JDM patients are very sensitive to sun exposure, and sunburn may be a disease activity trigger in some, so daily application of high-SPF sunscreen is often recommended.
## Prognosis[edit]
Of the children diagnosed with and treated for JDM, about half will recover completely. Close to 30 percent will have weakness after the disease resolves.[6] Most children will go into remission and have their medications eliminated within two years, while others may take longer to respond or have more severe symptoms that take longer to clear up.[7]
A common lasting effect of JDM is childhood arthritis.
## Gallery[edit]
*
## References[edit]
1. ^ [1] Archived July 5, 2008, at the Wayback Machine
2. ^ "Juvenile Dermatomyositis | Boston Children's Hospital". Childrenshospital.org. Retrieved 2015-09-27.
3. ^ Dalakas, Marinos C. (2015-04-30). "Inflammatory Muscle Diseases". New England Journal of Medicine. 372 (18): 1734–1747. doi:10.1056/NEJMra1402225. ISSN 0028-4793. PMID 25923553.
4. ^ Brown VE, Pilkington CA, Feldman BM, Davidson JE (August 2006). "An international consensus survey of the diagnostic criteria for juvenile dermatomyositis (JDM)". Rheumatology (Oxford). 45 (8): 990–3. doi:10.1093/rheumatology/kel025. PMID 16467366.
5. ^ Feldman BM, Rider LG, Reed AM, Pachman LM (June 2008). "Juvenile dermatomyositis and other idiopathic inflammatory myopathies of childhood". Lancet. 371 (9631): 2201–2212. doi:10.1016/S0140-6736(08)60955-1. PMID 18586175. S2CID 205951454.
6. ^ "Dermatomyositis: Outlook". Freemd.com. 2010-12-09. Retrieved 2015-09-27.
7. ^ "Juvenile Dermatomyositis (JDM)". Cincinnatichildrens.org. Retrieved 2015-09-27.
## External links[edit]
Classification
D
* ICD-10: M33.0
* ICD-9-CM: 710.3
* v
* t
* e
Systemic connective tissue disorders
General
Systemic lupus erythematosus
* Drug-induced SLE
* Libman–Sacks endocarditis
Inflammatory myopathy
* Myositis
* Dermatopolymyositis
* Dermatomyositis/Juvenile dermatomyositis
* Polymyositis* Inclusion body myositis
Scleroderma
* Systemic scleroderma
* Progressive systemic sclerosis
* CREST syndrome
* Overlap syndrome / Mixed connective tissue disease
Other hypersensitivity/autoimmune
* Sjögren syndrome
Other
* Behçet's disease
* Polymyalgia rheumatica
* Eosinophilic fasciitis
* Eosinophilia–myalgia syndrome
* fibrillin
* Marfan syndrome
* Congenital contractural arachnodactyly
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Juvenile dermatomyositis
|
c0263666
| 7,168 |
wikipedia
|
https://en.wikipedia.org/wiki/Juvenile_dermatomyositis
| 2021-01-18T18:38:38 |
{"gard": ["6805"], "mesh": ["D003882"], "umls": ["C0263666"], "orphanet": ["93672"], "wikidata": ["Q6318950"]}
|
A number sign (#) is used with this entry because glutathione synthetase deficiency, or 5-oxoprolinuria, is caused by homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS; 601002) on chromosome 20q11. The same gene is mutant in hemolytic anemia due to glutathione synthetase deficiency of erythrocytes (231900).
Also see 5-oxoprolinuria due to oxoprolinase deficiency (260005).
Description
Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).
Clinical Features
Jellum et al. (1970) discovered large amounts of pyroglutamic acid in the urine and plasma of a 19-year-old retarded Norwegian male. The chemical search was initiated because of unexplained chronic metabolic acidosis. Pyroglutamic acid was isolated by gas chromatography and identified by mass spectrometry; it is ninhydrin-negative. The patient showed spastic tetraparesis and a cerebellar disorder with intention tremor and dysarthria. Deficiency of 5-oxoprolinase in the kidney was suspected but not proved. Larsson et al. (1974) described 2 sisters, a neonate and a 3 year old, with pyroglutamic aciduria. Both had chronic metabolic acidosis requiring therapy with bicarbonate. Both showed increased hemolysis and marked decrease in glutathione in erythrocytes. Psychologic and somatic development of the 3 year old was normal, and she had no signs of neurologic damage. Marstein et al. (1976) studied a 24-year-old mentally retarded man who had demonstrated neurologic deterioration during the previous few years. Ataxia prevented his walking unaided. He developed epileptic seizures. Erythrocytes contained no detectable glutathione, and his glutathione synthetase activity was less than 2% of normal. The overproduction of pyroglutamate is probably caused by increased in vivo activity of gamma-glutamyl-cysteine synthetase, which in turn is caused by absence of normal feedback inhibition by glutathione with resulting superabundance of substrates available for gamma-glutamyl cyclotransferase. Lack of glutathione in the erythrocytes is apparently tolerable, but in nonrenewable neurons leads to serious neurologic problems of progressive nature.
Because of the observation of several episodes of neutropenia in a child with 5-oxoprolinuria, Spielberg et al. (1979) examined the response of neutrophils to oxidative stress associated with phagocytosis. Following ingestion of particles, the cells accumulated excess hydrogen peroxide compared with normal cells and showed impaired protein iodination and bacterial killing.
Robertson et al. (1991) described a 12-year-old girl with chronic metabolic acidosis, mental retardation, and psychotic behavior, as well as mild hemolytic anemia and peripheral retinal pigmentation abnormalities. A urine metabolic screen demonstrated 5-oxoprolinuria and further studies showed glutathione synthetase deficiency. The acidosis in the newborn period had been labeled renal tubular acidosis and treated with bicarbonate.
Divry et al. (1991) described a patient with a very severe neurologic presentation leading to fatal outcome in the first hours of life.
Manning et al. (1994) stated that approximately 20 cases of glutathione synthase deficiency had been reported and another 10 were known. The usual presentation had been neonatal acidosis and hemolysis with or without signs of neurologic damage. Some cases had not been diagnosed until adult life, however, reflecting a less severe form of the condition.
Clinical Management
Boxer et al. (1979) reported that vitamin E (alpha-tocopherol), 400 IU/day, increased red cell survival, corrected both the bactericidal and the iodination defects, and eliminated the neutropenia that accompanied intercurrent illnesses.
Martensson et al. (1989) concluded that N-acetylcysteine may be of value in increasing the low intracellular glutathione concentrations and cysteine availability in patients with this disorder.
Ristoff et al. (2001) studied 28 patients with glutathione synthetase deficiency, which they classified into 3 types based on severity of clinical signs: mild (hemolytic anemia only), moderate (neonatal acidosis), and severe (neurologic involvement). They concluded that early supplementation with vitamins C and E may improve the long-term clinical outcome of these patients.
Diagnosis
### Prenatal Diagnosis
Erasmus et al. (1993) described a family in which an affected girl died at the age of 6 weeks. Both parents and the maternal grandmother had erythrocyte glutathione synthetase activity in the heterozygote range. Two later pregnancies were monitored with the measurement of 5-oxoproline in the amniotic fluid and in the latter of the 2 pregnancies by glutathione synthetase activity measurements. Both tests suggested that the infants were not affected and such was proved to be the case after delivery. Since accumulation of 5-oxoproline in body fluids, including urine, is characteristic of this disorder and since the amniotic fluid from the second trimester consists mostly of fetal urine, prenatal diagnosis by amniocentesis should be possible.
Manning et al. (1994) studied 2 pregnancies of an at-risk couple at 16 weeks' gestation. The levels of 5-oxoproline in both pregnancies was 25 to 30 times normal. The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other case, postmortem tissue samples failed to grow.
Molecular Genetics
In 3 families with glutathione synthetase deficiency, Shi et al. (1996) identified 7 mutations in the GSS gene on 6 alleles (601002.0001-601002.0006).
In 41 patients (33 previously reported) with glutathione synthetase deficiency from 33 families, Njalsson et al. (2005) evaluated genotype, enzyme activity, metabolite levels, and clinical phenotype. They identified 27 different mutations; 23 patients were homozygotes and 18 were compound heterozygotes. The moderate and severe clinical phenotypes could not be distinguished based on enzyme activity or glutathione or gamma-glutamylcysteine levels in cultured fibroblasts. All mutations causing frameshifts, premature stop codons, or aberrant splicing were associated with moderate or severe clinical phenotypes. Njalsson et al. (2005) concluded that additional genetic or environmental factors modify at least the moderate and severe phenotypes and that the clinical classification given to patients may be influenced by variation in follow-up.
Eyes \- Peripheral retinal pigmentation abnormalities Neuro \- Mental retardation \- Ataxia \- Seizures \- Spastic tetraparesis \- Intention tremor \- Dysarthria \- Psychotic behavior Inheritance \- Autosomal recessive Metabolic \- Chronic metabolic acidosis Lab \- Pyroglutamic acidemia \- Pyroglutamic aciduria \- Decreased erythrocyte glutathione \- Glutathione synthetase deficiency \- Increased gamma-glutamyl-cysteine synthetase \- Neutrophil bactericidal and iodination defects responsive to vitamin E (alpha-tocopherol) Heme \- Increased hemolysis \- Mild hemolytic anemia \- Episodic neutropenia ▲ 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
|
GLUTATHIONE SYNTHETASE DEFICIENCY
|
c0398746
| 7,169 |
omim
|
https://www.omim.org/entry/266130
| 2019-09-22T16:23:01 |
{"mesh": ["C536835"], "omim": ["266130"], "orphanet": ["32", "289846"], "synonyms": ["Alternative titles", "5-OXOPROLINURIA", "PYROGLUTAMIC ACIDURIA"]}
|
A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.
## Epidemiology
The annual incidence of MF and its variants is estimated at between 1/350,000 and 1/110,000, with folliculotropic MF accounting for about 5% of MF cases. Males are more frequently affected than females.
## Clinical description
Folliculotropic MF predominantly affects adults. Skin lesions usually consist of grouped follicular papules, plaques or tumors, preferentially located in the head and neck area. Infiltrated plaques under the eyebrows and alopecia are common. Pruritus is often severe. Most cases present with mucinous degeneration of the hair follicles: these cases are referred to as MF-associated follicular mucinosis. Secondary bacterial infections are frequent. Progression of the disease and involvement of the lymph nodes and/or internal organs may occur as in the classical variant of the disease (see this term).
## Etiology
The etiology remains unknown.
## Diagnostic methods
The diagnosis is based on clinical presentation and should be confirmed by a skin biopsy. Histological findings reveal variable infiltration of the follicular epithelium by small, medium-sized, or sometimes large hyperchromatic cells with cerebriform nuclei and sparing of the epidermis. Most cases show mucinous degeneration of the follicular epithelium. In most cases, immunohistology reveals a memory T-helper phenotype (CD3+, CD4+ and CD8-).
## Differential diagnosis
The main differential diagnoses include inflammatory dermatoses with prominent involvement of the hair follicle, such as lichen planopilaris (see this term). The relationship between "idiopathic" follicular mucinosis and MF remains unclear.
## Management and treatment
Management is symptomatic and includes the use of PUVA (photochemotherapy) combined with interferon alpha-2a and retinoids, total body electron beam irradiation, and local radiotherapy in cases of persistent tumors.
## Prognosis
The overall 5-year survival rate is 70-80%.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Folliculotropic mycosis fungoides
|
c1627767
| 7,170 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178512
| 2021-01-23T18:11:13 |
{"umls": ["C1627767"], "icd-10": ["C84.0"], "synonyms": ["Mycosis fungoides-associated follicular mucinosis"]}
|
A number sign (#) is used with this entry because of evidence that ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) is caused by homozygous mutation in the CLDN1 gene (603718) on chromosome 3q28.
Clinical Features
Baala et al. (2002) described a novel autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in 4 affected individuals from 2 small inbred Moroccan kindreds. This syndrome shares some similarities with Dorfman-Chanarin syndrome (275630) but is distinct in that there is lack of muscular or ocular involvement, hepatomegaly is related to cholestasis and sclerosing cholangitis and not fatty infiltration, and small leukocytes and keratinocyte vacuoles are negative for lipid staining. Ultrastructural analysis of a skin biopsy from an affected individual showed split anchoring plaques of desmosomes in the granular layer.
Feldmeyer et al. (2006) reported a Swiss girl with ILVASC. She was born with generalized erythroderma, massive lamellar desquamation with absent hair, eyelashes, and eyebrows, and marked icterus with hyperbilirubinemia and increased biliary acids. Other features included dysplastic enamel and koilonychia. Liver biopsy showed panlobular cholestasis and acute hepatitis.
Mapping
Baala et al. (2002) mapped ILVASC to a 21.2-cM interval of chromosome 3q27-q28 and reduced the genetic interval to a 16.2-cM region by homozygosity mapping. Two-point linkage analysis gave a maximum lod score at D3S1601 (Zmax of 2.61 at theta = 0). The maximum pairwise lod score was 3.25 assuming maximum informativity, a unique mutant allele at the disease locus, and a recombination fraction of 0 between the disease locus and the marker. Comparison of mutant chromosomes in the 2 families suggested a common ancestral mutant haplotype, and linkage disequilibrium reduced the genetic interval encompassing the disease gene to less than 9.5 cM.
Molecular Genetics
Hadj-Rabia et al. (2004) considered the gene encoding claudin-1 to be a strong candidate for ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis based on its mapping to the minimum linkage interval for the disorder and on the expression pattern of the mouse ortholog. In the 4 affected patients with ILVASC previously described by Baala et al. (2002), Hadj-Rabia et al. (2004) identified a 2-bp deletion in exon 1 of the CLDN1 gene (200delTT; 603718.0001), resulting in a premature stop codon and a total absence of claudin-1 protein in the liver and skin.
In a Swiss girl with ILVASC, Feldmeyer et al. (2006) identified a homozygous 1-bp deletion in the CLDN1 gene (603718.0002). The parents, who were heterozygous for the mutation, originated from 2 small nearby villages.
INHERITANCE \- Autosomal recessive HEAD & NECK Teeth \- Hypodontia \- Oligodontia \- Enamel hypoplasia ABDOMEN Liver \- Hepatomegaly \- Cholestasis \- Fibrosis without fatty infiltration or ductular proliferation SKIN, NAILS, & HAIR Skin \- Mild diffuse ichthyosis \- Xerosis \- Jaundice \- Orthokeratosis \- Parakeratosis \- Acanthosis \- Papillomatosis \- Granular layer hyperplasia \- Intracytoplasmic vacuoles in basal keratinocytes (with negative oil red O-staining) \- Split anchoring plaques of desmosomes in the granular layer (transmission electron microscopy (TEM)) Hair \- Hypotrichosis \- Short dystrophic, thick hair \- Cicatricial frontoparietal alopecia \- Sparse eyelashes \- Loss of the outer third of the eyebrows HEMATOLOGY \- Intracytoplasmic vacuoles in eosinophils, neutrophils and lymphocytes MOLECULAR BASIS \- Caused by mutations in the claudin-1 gene (CLDN1, 603718.0001 ) ▲ 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
|
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
|
c1843355
| 7,171 |
omim
|
https://www.omim.org/entry/607626
| 2019-09-22T16:09:00 |
{"mesh": ["C564365"], "omim": ["607626"], "orphanet": ["59303"], "synonyms": ["Alternative titles", "ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME", "NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME", "NISCH SYNDROME"]}
|
Aman vibhore
SpecialtyHematology and oncology
Accelerated phase chronic myelogenous leukemia is a phase of chronic myelogenous leukemia in which the disease is progressing.[1] In this phase, 10 to 19% of the cells in the blood and bone marrow are blast cells (immature blood cells). In the accelerated phase, these leukemia cells grow quickly.[citation needed]
## Contents
* 1 Symptoms
* 2 Treatment
* 3 Prognosis
* 4 References
* 5 External links
## Symptoms[edit]
Common symptoms include fever, bone pain, and swollen spleen.[2]
## Treatment[edit]
Patients treated with imatinib, dasatinib, and nilotinib have shown meaningful rates of hematologic and cytogenetic response.[3]
## Prognosis[edit]
Prognosis is very poor once chronic myelogenous leukemia reaches the accelerated phase; it behaves similarly to acute myeloid leukemia.
## References[edit]
1. ^ Moshe Talpaz (2002). "Imatinib induces durable hematologic and cytogenetic responses in patients with accelerated phase chronic myeloid leukemia: results of a phase 2 study". Blood. 99 (6): 1928–1937. doi:10.1182/blood.v99.6.1928. PMID 11877262. S2CID 29480569.
2. ^ "Chronic myelogenous leukemia (CML)".
3. ^ Shah, NP (Mar 2008). "Advanced CML: therapeutic options for patients in accelerated and blast phases". Journal of the National Comprehensive Cancer Network. 6 Suppl 2: S31–S36. PMID 18397679.
## External links[edit]
* Accelerated phase chronic myelogenous leukemia entry in the public domain NCI Cancer Dictionary
Classification
D
* MeSH: D015465
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Accelerated phase chronic myelogenous leukemia
|
c0023472
| 7,172 |
wikipedia
|
https://en.wikipedia.org/wiki/Accelerated_phase_chronic_myelogenous_leukemia
| 2021-01-18T18:45:15 |
{"mesh": ["D015465"], "wikidata": ["Q268832"]}
|
Mosquito bite allergies (MBA), also termed hypersensitivity to mosquito bites (HMB), are excessive reactions of varying severity to mosquito bites.
Circumscribed erythema related to severe mosquito bite allergy.
MBA are not caused by any toxin or pathogen in the saliva injected by a female mosquito at the time it takes its blood-meal. (Male mosquitos do not take blood-meals.) Rather, they are allergic hypersensitivity reactions caused by the non-toxic allergenic proteins contained in the mosquito's saliva. By general agreement, mosquito bite allergies do not include the ordinary wheal and flare responses to these bites although these reactions are also allergic in nature.[1] Ordinary mosquito bite allergies are nonetheless detailed here because they are the best understood reactions to mosquito bites and provide a basis for describing what is understood about MBA.
Mosquito bite allergies are informally classified as 1) the Skeeter syndrome, i.e. severe local skin reactions sometimes associated with low-grade fever; 2) systemic reactions that range from high-grade fever, lymphadenopathy, abdominal pain, and/or diarrhea to, very rarely, life-threatening symptoms of anaphylaxis; and 3) severe and often systemic reactions occurring in individuals that have an Epstein-Barr virus-associated lymphoproliferative disease, Epstein-Barr virus-negative lymphoid malignancy,[2] or another predisposing condition such as Eosinophilic cellulitis or chronic lymphocytic leukemia.[3] The term papular urticaria[4] is commonly used for a reaction to mosquito bites that is dominated by widely spread hives. Here, papular urticaria is regarded as a symptom of MBA manifested in individuals with one of the other MBA but particularly in the MBA associated with eosinophilic cellulitis.
Mosquitos belong to the biological Order of Diptera (which includes all two-winged insects), suborder Nematocera, family Culicidea.[5] There are >3,500 different mosquito species with the Aedes and Culex genera being common in North America. It is assumed that any species of mosquito that causes an ordinary mosquito bite reaction in humans is capable of causing MBA.[6] In addition to mosquitoes, the Diptera order includes numerous other types of biting insects such as midges (e.g. sand flies) and gnats. Bites by the latter insects[1] or possibly some other insects[7] may cause reactions that are mechanistically and clinically similar to those seen with mosquito bites.[1]
MBA occur more often where insect bites are frequent. Consequently, cases of MBA (as well as various other allergic disorders) are more prevalent in tropical climates, underdeveloped areas, areas dominated by poverty, poor hygiene, and/or unawareness of these diseases, and urban areas plagued by social inequality, juvenile delinquency, and violence. That is, not only climate but also cultural and socioeconomic conditions play critical roles in facilitating the development and prevalence of diverse allergic disease including mosquito bite allergies.[7]
## Contents
* 1 Ordinary reactions
* 1.1 Presentations
* 1.2 Pathophysiology
* 1.3 Diagnosis
* 1.4 Prevention
* 1.5 Treatment
* 2 Skeeter syndrome reactions
* 2.1 Presentation
* 2.2 Pathophysiology
* 2.3 Prognosis
* 2.4 Diagnosis
* 2.5 Prevention and treatment
* 3 Systemic allergic reactions
* 3.1 Presentation
* 3.2 Pathophysiology
* 3.3 Diagnosis
* 3.4 Prevention
* 3.5 Prevention and treatment
* 4 Reactions associated with predisposing factors
* 4.1 Epstein-Barr virus-associated lymphoproliferative diseases
* 4.1.1 Presentation
* 4.1.2 Pathophysiology
* 4.1.3 Diagnosis
* 4.1.4 Treatment
* 4.2 Eosinophilic cellulitis
* 4.3 Chronic lymphocytic leukemia
* 4.4 Mantle cell lympohoma
* 5 References
## Ordinary reactions[edit]
Main article: Mosquito
### Presentations[edit]
The typical reaction to mosquito bites involves the development of an itchy wheal that may contain a central red dot and is surrounded by splotchy redness. This "immediate reaction" occurs at some time during the first 20 minutes following the bite. Within hours of the bite, a "delayed reaction", in which the wheal evolves into a papule develops and then dissipates over the next few days or weeks.[1] However, there is a wide variability in the type of reaction which individuals mount in response to these bites. The initial mosquito bite(s) in previously unexposed individuals does not cause a skin reaction but does initiate the development of antibodies and/or lymphocytes that are directed against the allergens in mosquito's saliva. These individuals thereby become sensitized and reactive to subsequent mosquito bites. After repetitive mosquito bites, individuals may become less sensitive or completely insensitive to the bites in the natural process of allergen desensitization. Individuals therefore progress through 5 stages in which the type of reaction to a mosquito bite depends on the number of their previous bite exposures and levels of acquired sensitization and desensitization to these bites. The 5 stages an individual may undergo in reacting to repetitive mosquito bites are:[6]
* Stage I: Previously unexposed individuals have no immediate or delayed reaction.
* Stage II: Shortly after their initial exposure(s), individuals become partly sensitized and therefore mount a delayed but no immediate reaction.
* Stage III: Following further exposures, individuals become fully sensitized and therefore mount an immediate followed by a delayed reaction.
* Stage IV: After >2–20 years of repetitive exposures, individuals may become partially desensitized and therefore mount an immediate but no delayed reaction.
* Stage V: After many further exposures during the 2–20 years of repetitive exposures, individuals may become fully desensitized and therefore show no reaction.
In a study of 41 Canadian adults experimentally exposed to mosquito bites, 11 individuals exhibited no reaction, 23 individuals exhibited immediate followed by delayed reactions, 6 individuals exhibited only immediate reactions, and 1 individual exhibited only a delayed reaction.[3] Overall, 70-90% of individuals experience an immediate reaction and 55-65% experience a delayed reaction to mosquito bites.[6]
Individuals also vary in the severity of their reactions to mosquito bites. Most individuals show a "small reaction" in which a 2–10 mm (0.1-0.4 inches) diameter wheal evolves into a similarly sized papule that dissipates over several days.[6] About 2.5% of individuals (based on self reports)[6] show a "large reaction" in which the wheal is much larger than 10 mm (it may exceed 3 cm, i.e. 1.2 inches) in diameter and evolves into an extensive lesion that has black and blue discolorations due to subcutaneous bleeding, blistering, and/or necrosis. The latter reactions, which appear to be caused by the development of an inflammatory Arthus reaction at the site, may be very painful.[1]
### Pathophysiology[edit]
Mosquito saliva contains >30 potentially allergenic proteins. More than 11 of these have been identified in the saliva of the Aedes egypti mosquito. Four such proteins, termed Aed a 1 (an apyrase), Aed 2 (Female-specific protein, D7), Aed 3 (an as yet undefined protein), and Aed a 4 (an α-glucosidase) have been purified as recombinant proteins. Each of these recombinants causes immediate and delayed skin reactions when injected into volunteers with a history of mosquito bite reactivity. As exemplified by the Aed proteins, the proteins in the saliva of any biting mosquito are thought to cause individuals who have not been previously bitten to: a) make IgE and IgG antibodies that bind the proteins inducing their formation and b) develop T cells (a type of lymphocyte) that react against parts of the inducing proteins that are displayed on the surface of cells at the bite site (see Antigen presentation). In subsequent mosquito bites, IgE and IgG appear involved in the development of both immediate and delayed skin reactions while T cells appear involved in development of the delayed skin reactions.[8] The acquired IgE binds mosquito saliva proteins and then triggers skin tissue cells such as mast cells to release at least two mediators of allergic reactions, histamine and leukotriene C4. These mediators contribute to the development of the wheal, itch, and other components of the immediate reaction. This part of the immediate reaction is a classical type I hypersensitivity reaction. The acquired IgG binds mosquito saliva proteins to form an immune complex-triggered type III hypersensitivity reaction that recruits blood leukocytes, including T cells, into the bite area; this response it thought to be required for developing the early stage of the delayed reaction. T cells present in or recruited to the mosquito bite area appear responsible for mediating the full delayed reaction. The full delayed reaction is a type IV hypersensitivity reaction.[6]
### Diagnosis[edit]
The diagnosis of ordinary mosquito reactions is made on the basis of the history and clinical features of an mosquito bites.[6]
### Prevention[edit]
Reducing mosquito breeding areas (e.g. eliminating standing water pools, stocking ponds with fish that consume mosquito larva) and the use of other mosquito control methods such as insecticides, mosquito traps, protective clothing, bed nets, and repellants (e.g. DEET or permethrin) are effective, highly recommended means for reducing mosquito bites.[6] Daily doses of a non-sedating second-generation anti-histamines (e.g. cetirizine or levocetirizine) can effectively reduce the immediate and delayed reactions to mosquito bites.[8] The use of recombinant mosquito saliva proteins to desensitize individuals against developing reactions to mosquito bites has yielded variable results and requires further study.[6]
### Treatment[edit]
Treatment of ordinary small or large mosquito bite reactions is limited to the use of non-sedative H1 antihistamines, e.g. cetirizine[6] or a drug with combined activity in inhibiting histamine and platelet-activating factor, e.g. rupatadine.[9] Randomized, double-blinded, placebo-controlled studies are needed to determine if antileukotriene drugs or topical steroids have beneficial effects in reducing the symptoms of these bites.[6]
## Skeeter syndrome reactions[edit]
Main article: Skeeter syndrome
### Presentation[edit]
The Skeeter syndrome is by definition a mosquito bite allergy that consists of a large mosquito bite reaction that may be accompanied by a brief or longer-term (i.e. days to weeks) low-grade fever.[8] and, on rare occasions, vomiting.[10] The bite site shows an intense, large reaction often resembling a cellulitis infection that persists for days to weeks.[5] The syndrome usually afflicts healthy children, immune-deficient persons, and individuals who are new to an area inhabited by mosquito species to which they have not been exposed.[6]
### Pathophysiology[edit]
Mechanistically, the Skeeter syndrome appears to be a particularly intense variant of the ordinary mosquito bite reaction. It involves sequential Type I, III, and IV hypersensitivity reactions[6] that are mediated by the IgE, IgG, and T cells that are directed against mosquito salivary proteins.[1]
### Prognosis[edit]
Children afflicted with the syndrome remain healthy although subject to recurrent severe reactions to mosquito bites. The development of desensitization that follows repetitive mosquito bites and reduces the intensity or completely blocks reactions to mosquito bites may take longer to develop and/or be less effective in those with Skeeter syndrome compared to those with ordinary mosquito bite reactions.[11]
### Diagnosis[edit]
The diagnosis of Skeeter syndrome is based mainly on the appropriate history of severe skin responses to mosquito bites that may be associated with fever. The diagnosis can be supported by the detection, using for example an ELISA assay), IgE directed against mosquito saliva proteins in the afflicted individuals serum.[8] Direct mosquito bite testing is perhaps the best method for diagnosing mosquito bite allergy but difficulty in determining which mosquito species to use for the test, the possibly of transmitting a mosquito-borne disease, and the risk of triggering a very severe response make this test impractical for routine use.[6]
### Prevention and treatment[edit]
The preventive measures listed for ordinary mosquito bite reactions are important for avoiding Skeeter syndrome reactions. In addition to second generation, non-sedative H1 antihistamines, antipyretics and nonsteroidal anti-inflammatory drugs are typically used to treat patients with acute attacks of the syndrome.[6]
## Systemic allergic reactions[edit]
### Presentation[edit]
Individuals with systemic mosquito bite allergies respond to mosquito bites with intense local skin reactions (e.g. blisters, ulcers, necrosis, scarring) and concurrent or subsequent systemic symptoms (high-grade fever and/or malaise; less commonly, muscle cramps, bloody diarrhea, bloody urine, proteinuria, and/or wheezing;[3] or very rarely, symptoms of overt anaphylaxis such as hives, angioedema (i.e. skin swelling in non-mosquito bite areas), shortness of breath, rapid heart rate, and low blood pressure]].[8] There are very rare reports of death due to anaphylaxis following mosquito bites.[6] Individual with an increased risk of developing severe mosquito bite reactions include those experiencing a particularly large number of mosquito bites, those with no previous exposure to the species of mosquito causing the bites, and those with a not fully developed immune system such as infants and young children.[8] Individuals with certain Epstein-Barr virus-associated lymphoproliferative,[12] non-Epstein-Barr virus malignant lymphoid,[2] or other predisposing disease[3] also have an increased rate of systemic mosquito bite reactions but are considered in a separate category (see below).
### Pathophysiology[edit]
Systemic mosquito bite reactions appear to be primarily Type I hypersensitivity reactions that are critically mediated by IgE directed against mosquito salivary gland proteins.[8]
### Diagnosis[edit]
The methods used to diagnose systemic mosquito bite allergies are similar to used to diagnose the Skeeter syndrome, including typical case history and, in particular, ELISA tests to detect specific IgE directed against mosquito salivary proteins.[8]
### Prevention[edit]
The methods used to avoid mosquito bites (see Prevention in section on Ordinary mosquito bite reactions) are of particularly importance for preventing systemic mosquito bite allergies, given their severity. These include avoiding mosquito-infested areas, the use of repellants such as DEET or permethrin, and mosquito bite desensitization procedures once they have been shown to be safe and effective for this severest form of mosquito allergy.[8]
### Prevention and treatment[edit]
Main article: Anaphylaxis § Management
Systemic mosquito bite reactions are serious and on rare occasions may be life-threatening.[6] Individuals at risk for developing anaphylactic symptoms in response to mosquito bites should carry an Epinephrine autoinjector for immediate use following a mosquito bite. These individuals as well as those without self-injecting epinephrine who develop symptoms of anaphylaxis following a mosquito bit should be treated as medical emergencies requiring anaphylaxis management.[8] Individuals with less severe symptoms of systemic mosquito bite reactions require monitoring and treatments tailored to their symptoms. These treatments may include systemic corticosteroids, second generation H1 anti-histamines, and anti-pyretics similar to those used to treat the Skeeter syndrome.[6]
## Reactions associated with predisposing factors[edit]
### Epstein-Barr virus-associated lymphoproliferative diseases[edit]
Main article: Epstein-Barr virus-associated lymphoproliferative diseases § Severe mosquito bite allergy
Mosquito bite allergies afflict individuals who have any one of various types of Epstein-Barr virus-associated lymphoproliferative disease (EBV+ LPD).[13] About 33% of patients with chronic active Epstein-Barr virus infection are afflicted by MBA. Other EBV+ LPD reported to predispose individuals to MBA include Epstein-Barr virus-positive Hodgkin disease,[14] hydroa vacciniforme,[15] hemophagocytic lymphohistiocytosis,[16] aggressive NK‐cell leukemia (also termed aggressive NK-cell leukemia/lymphoma),[14] and extranodal NK/T-cell lymphoma, nasal type.[13] MBA in individuals with EBV+ CAEBV is the best studied or the MBA in EBV+ LPD; much of what is known in this area is based on these individuals.[13]
#### Presentation[edit]
Cases of MBA associated with EBV+ LPD have been reported most often in Japan, Taiwan, Korea, and the native populations of Mexico, Central America, and South America.[14] This reaction occurs primarily in younger individuals (0–18 years old; mean age 6.7 years) who have evidence of one of the predisposing EBV+ LPD.[3] Rarely, however, it occurs in individuals who exhibit no signs or symptoms of a predisposing disorder but later develop CAEBV.[3][17] In addition to the signs and symptoms of their specific EBV+ LPD (see Epstein-Barr virus-associated lymphoproliferative diseases), these individuals are subject to severe local as well as systemic reactions to mosquito bites.[3] The bite sites are infiltrated with T helper cells, CD8+ T cells, and CD16\+ NK cells. In this mixture of infiltrates, most of the cells exhibiting EBV positivity are T helper cells.[13] The systemic reactions include: fever and malaise;[12] enlarged lymph nodes, liver, and/or spleen; liver dysfunction; hematuria; and proteinuria.[1] The individuals exhibit greatly increased numbers off circulating NK cells, increased levels of T helper cells. and increased levels of IgE.[13] Some of the circulating NK cells are clearly infected with EBV. The mosquito bitten tissues show perivascular infiltrations containing T and NK cells; a large percentage of these NK cells are EBV positive.[14] Cases associated with CAEBV commonly progress to a more serious EBV+ LPD such as marginal zone B-cell lymphoma or a Hodgkin lymphoma-like B cell lymphoma.[14]
#### Pathophysiology[edit]
The allergenic proteins in the mosquito's salivary are thought to trigger the reactivation of EBV in the NK cells that are latently infected with the virus. Upon reactivation, the virus expresses certain of its gene products, particularly that of its LMP-1 oncogene,[13] as well as induces its infected cells to release certain of their gene products, particularly interferon gamma and interleukin 10,[3] which cause the cells it infects to lyse and release EBV to infect other cells or, alternatively, to become immortalized, proliferate, and, possibly, become malignant.[13]
#### Diagnosis[edit]
The diagnosis of MBA in EBV+ LPD depends on finding evidence of the EBV+ LPD, a compatible clinical presentation, and detection of EBV in the NK and T cells (e.g. T helper cells) in blood and/or mosquito bitten tissues. The presence of high levels of EBV+ circulating NK cells strongly supports the diagnosis. However, an exceptionally high density of EBV+ in the skin lesions and/or blood raises the possibility that the individual has a NK-cell lymphoma/leukemia.[6] Lympoid cells at the bite site may also express the EBV1 viral gene, BZLF1; this gene promotes the lyses of its infected cell host and when detected in bite sites is a marker of a poor prognosis.[13]
#### Treatment[edit]
The best treatment for MBA in individuals with an EBV+ LPD vaires. Mild and clearly uncomplicated cases with, for example, indolent CAEV, are treated conservatively focusing on obtaining relief of symptoms such as skin irritation, fever, and malaise.[17] Cases with evidence of significant complications of CAEFV such as the development of hemophagocytosis, NK/T cell lymphoma, or aggressive NK cell lymphoma generally require chemotherapeutic regimens directed at these complications. Individuals with EBV+ systemic MBA and clear evidence of concurrent aggressive CAEBV have been treated with relative success by the 3 step regimen used to treat CAEBV.[2] Rare cases of SMBA have been reported to occur in individuals who have no apparent predisposing disease but later develop CAEBV.[14][17] Such cases require careful evaluation and follow-up for development of a predisposing disorder.[17]
### Eosinophilic cellulitis[edit]
Main article: Eosinophilic cellulitis
Eosinophilic cellulitis, also known as Wells syndrome, is a rare skin disease usually occurring on the extremities and/or trunk that is characterized by episodic acute urticarial eruptions or erysipelas-like rashes which proceed to develop over the ensuing ~6 weeks into granuloma-like or morphea‐like lesions. The initial lesions may be papules, plaques, vesicles, or blisters and give a burning or itcy sensation.[18] The eruptions may be accompanied by fever, arthralgia or other systemic symptoms.[19] The disorder predominantly affects adults, frequently takes a protracted course, and has a high rate of spontaneous remission but is often recurrent with relapses occurring even long after remissions. One study found a relapse rate of 56% during an observation period of up to 19 months. Relapses are more frequent in adults than in children. While these lesions usually resolve without sequelae, they may result in skin atrophy and hyperpigmentation.[18] Individuals afflicted with eosinophilic cellulities may have a history of other diseases including various eosinophlic skin diseases, abnormally high levels of circulating blood eosinophils, the hypereosinophilic syndrome, the Churg‐Strauss syndrome, ulcerative colitis, arthralgias, myalgias, facial nerve paralysis, photosensitivity,[18] polycythemia vera, chronic myeloid leukemia,[20] chronic lymphocytic leukemia, Hodgkin lymphoma, nasopharyngeal cancer, and renal cell carcinoma.[18] Episodes of the disorder are sometimes triggered by: drugs (e.g. antimicrobial agents, biologics, antihypertensive agents, diuretics, thyroid hormones, analgesics, cytostatic agents, and anesthetics); vaccines; skin contact with chemicals (e.g. p-phenylenediamine, thiomersal,[18] and cladribine); viral, bacterial, fungal, and parasitic infections; and insect bites.[18]
Mosquitos are among the insects known to trigger MBA in individuals with eosinophilic cellulitis, They are also thought to trigger MBA that are followed by and therefore trigger the development of eosinophilic cellulitis in individuals with no prior evidence of the disease. It is also possible, however, that these individuals have an undiagnosed, latent form of the disease. The acute eruptions, which may be singular or multiple, occur at the bite site and may spread locally or to more distant skin sites. The classification of all these eosinophilic cellultitis reactions, whether triggered by a mosquito bite, triggered by some other agent, or apparently untriggered, is argued;[3] it has been proposed that eosinophilic cellulites is not a distinct clinical entity but rather a set of skin reactions in various diagnosed or yet-to be diagnosed disorders that involve hypereosinophilia, dysfunctional eosinophils, and/or pathological reactions to foreign antigens which predispose individuals to developing these reactions.[19] Eosinophilic celllulitus-associated MBA appear to be non-specific type IV hypersensitivity reactions in which T helper cells release cytokines such as IL5 to attract, activate, promote the degranlulation, and prolong the survival of eosinophils. These eosinophils discharge eosinophilic cationic, major basic, and other proteins which injure cells and tissues and thereby may contribute to the severity of the skin lesions.[18] The lesions typically are scattered red nodules or diffuse areas consisting of eosinophil infilatrates and flame-like figures composed of eosinophil deposits and collagen bundles. Over time, these lesions become granulomatous and scarred. Patients with the disorder may have numerous scars due to previous MBA bouts.[18]
The diagnosis, which may be difficult to distinguish form other skin disorders, is based on history of mosquito bites and previous or concurrent predisposing diseases, the course taken by the skin lesions, and the pathology of these lesions. Blood eosinophil levels are elevated in about half of these cases.[19] The disorder has generally been either untreated or treated with short- or longer-term oral glucocorticoids, topical glucorocoricoids, and/or injections of glucocorticoids into the skin lesions, depending or lesion severities. Oral antihistamines are used to alleviate any associated itchiness. Anti-inflammatory drugs and mmunomodulatory agents such as dapsone, hydroxychloroquine, cyclosporine, interferon alfa, tacrolimus, TNF inhibitors, various antifungal agents, and numerous other agents[18] have been used to treat the disorder in case reports but their value in treating the disorder as well as MBA in the disorder is unclear.[18] If a causative disorder triggering or predisposing to the development of eosinophilic cellulites is identified, the best treatment option is to treat this disorder.[18] Patients with eosinophilic cellulitis should be followed to determine if their disorder progresses into a more series disease such as the hypereosinophilic syndrome, eosinophilic fasciitis, or the Churg-Strauss syndrome.[20]
### Chronic lymphocytic leukemia[edit]
Several case reports have found individuals with chronic lymphocytic leukemia are predisposed to develop severe skin reactions to mosquito and other insect bites. However, there are reports that chronic lymphocytic leukemia patients can develop similarly severe skin reactions in the absence of an insect bite history. The pathology of the insect bite sites in these cases resembles those seen in the MBA lesions of eosinophilic cellulitis but the mechanism behind these reactions is unknown.[3] There are too few reports to establish treatment recommendations for MBA I chronic lymphocytic leukemia beyond those generally used to treat other types of MBA.[3][13]
### Mantle cell lympohoma[edit]
Mantle cell lymphoma (MCL), a subtype of B-cell lymphomas, has been reported in rare cases to be associated with MBA. In several of these cases, the MBA occurred prior to the diagnosis of MCL suggesting that MBA can be a manifestation of early developing, and therefore a harbinger of, MCL. While most of these cases have not been associated with EBV infection, some cases of MBA in Asia have been reported to occur in EBV-positive MBL. Because of the rarity of these cases, the difference between EBV-negative and EBV-positive MCL as well as the best treatments for MBA in these two forms of MCL have not been determined.[3][13]
## References[edit]
1. ^ a b c d e f g Juckett G (December 2013). "Arthropod bites". American Family Physician. 88 (12): 841–7. PMID 24364549.
2. ^ a b c Sawada A, Inoue M, Kawa K (April 2017). "How we treat chronic active Epstein-Barr virus infection". International Journal of Hematology. 105 (4): 406–418. doi:10.1007/s12185-017-2192-6. PMID 28210942. S2CID 35297787.
3. ^ a b c d e f g h i j k l Tatsuno K, Fujiyama T, Matsuoka H, Shimauchi T, Ito T, Tokura Y (June 2016). "Clinical categories of exaggerated skin reactions to mosquito bites and their pathophysiology". Journal of Dermatological Science. 82 (3): 145–52. doi:10.1016/j.jdermsci.2016.04.010. PMID 27177994.
4. ^ Lozano AM, López JF, Zakzuk J, García E (December 2016). "Papular urticaria: A review of causal agents in Colombia". Biomedica : Revista del Instituto Nacional de Salud. 36 (4): 632–645. doi:10.7705/biomedica.v36i4.3258. PMID 27992990.
5. ^ a b Singh S, Mann BK (2013). "Insect bite reactions". Indian Journal of Dermatology, Venereology and Leprology. 79 (2): 151–64 Ecchymosis. doi:10.4103/0378-6323.107629. PMID 23442453.
6. ^ a b c d e f g h i j k l m n o p q r s Crisp HC, Johnson KS (February 2013). "Mosquito allergy". Annals of Allergy, Asthma & Immunology. 110 (2): 65–9. doi:10.1016/j.anai.2012.07.023. PMID 23352522.
7. ^ a b Caraballo L, Zakzuk J, Lee BW, Acevedo N, Soh JY, Sánchez-Borges M, Hossny E, García E, Rosario N, Ansotegui I, Puerta L, Sánchez J, Cardona V (2016). "Particularities of allergy in the Tropics". The World Allergy Organization Journal. 9: 20. doi:10.1186/s40413-016-0110-7. PMC 4924335. PMID 27386040.
8. ^ a b c d e f g h i j Peng Z, Simons FE (August 2007). "Advances in mosquito allergy". Current Opinion in Allergy and Clinical Immunology. 7 (4): 350–4. doi:10.1097/ACI.0b013e328259c313. PMID 17620829. S2CID 45260523.
9. ^ Mullol J, Bousquet J, Bachert C, Canonica GW, Giménez-Arnau A, Kowalski ML, Simons FE, Maurer M, Ryan D, Scadding G (January 2015). "Update on rupatadine in the management of allergic disorders". Allergy. 70 Suppl 100: 1–24. doi:10.1111/all.12531. PMID 25491409.
10. ^ Pérez-Vanzzini R, González-Díaz SN, Arias-Cruz A, Palma-Gómez S, Yong-Rodríguez A, Gutiérrez-Mujica JJ, García-Calderín D, Ibarra JA (2015). "[Hypersensitivity to mosquito bite manifested as Skeeter síndrome]". Revista Alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) (in Spanish). 62 (1): 83–7. PMID 25758116.
11. ^ Simons FE, Peng Z (September 1999). "Skeeter syndrome". The Journal of Allergy and Clinical Immunology. 104 (3 Pt 1): 705–7. doi:10.1016/S0091-6749(99)70348-9. PMID 10482852.
12. ^ a b Rezk SA, Zhao X, Weiss LM (June 2018). "Epstein - Barr virus - associated lymphoid proliferations, a 2018 update". Human Pathology. 79: 18–41. doi:10.1016/j.humpath.2018.05.020. PMID 29885408.
13. ^ a b c d e f g h i j Kyriakidis I, Vasileiou E, Karastrati S, Tragiannidis A, Gompakis N, Hatzistilianou M (December 2016). "Primary EBV infection and hypersensitivity to mosquito bites: a case report". Virologica Sinica. 31 (6): 517–520. doi:10.1007/s12250-016-3868-4. PMID 27900557. S2CID 7996104.
14. ^ a b c d e f Park S, Ko YH (January 2014). "Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders". The Journal of Dermatology. 41 (1): 29–39. doi:10.1111/1346-8138.12322. PMID 24438142.
15. ^ Natkunam Y, Gratzinger D, Chadburn A, Goodlad JR, Chan JK, Said J, Jaffe ES, de Jong D (November 2018). "Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal?". Blood. 132 (18): 1871–1878. doi:10.1182/blood-2018-04-842559. PMC 6213318. PMID 30082493.
16. ^ Fujiwara S, Kimura H, Imadome K, Arai A, Kodama E, Morio T, Shimizu N, Wakiguchi H (April 2014). "Current research on chronic active Epstein-Barr virus infection in Japan". Pediatrics International. 56 (2): 159–66. doi:10.1111/ped.12314. PMID 24528553.
17. ^ a b c d Chiu TM, Lin YM, Wang SC, Tsai YG (August 2016). "Hypersensitivity to mosquito bites as the primary clinical manifestation of an Epstein-Barr virus infection". Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi. 49 (4): 613–6. doi:10.1016/j.jmii.2014.01.008. PMID 24662020.
18. ^ a b c d e f g h i j k Weins AB, Biedermann T, Weiss T, Weiss JM (October 2016). "Wells syndrome". Journal der Deutschen Dermatologischen Gesellschaft. 14 (10): 989–993. doi:10.1111/ddg.13132. PMID 27767278.
19. ^ a b c Räßler F, Lukács J, Elsner P (September 2016). "Treatment of eosinophilic cellulitis (Wells syndrome) - a systematic review". Journal of the European Academy of Dermatology and Venereology : JEADV. 30 (9): 1465–79. doi:10.1111/jdv.13706. PMID 27357601.
20. ^ a b Toumi A, Litaiem N (2019). "Cellulitis, Eosinophilic (Wells syndrome)". StatPearls. PMID 30335327.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[nM]: nanomolars
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*[DOR]: δ-opioid receptor
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Mosquito bite allergy
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c0277369
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wikipedia
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https://en.wikipedia.org/wiki/Mosquito_bite_allergy
| 2021-01-18T18:58:36 |
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Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Isolated glycerol kinase deficiency
|
c0268418
| 7,174 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=408
| 2021-01-23T17:21:40 |
{"gard": ["2807"], "mesh": ["C538138"], "omim": ["307030"], "umls": ["C0268418", "C0574108"], "icd-10": ["E74.8"], "synonyms": ["Hyperglycerolemia"]}
|
## Clinical Features
Townes et al. (1988) described a sibship in which there were twins with anencephaly and a female infant with aprosencephaly, fused humerus and radius, and oligodactyly. Townes et al. (1988) suggested that the XK aprosencephaly syndrome may be an autosomal recessive disorder. The authors noted that Garcia and Duncan (1977) and Lurie et al. (1979, 1980) had described patients with a disorder similar to that of the female infant.
Martin and Carey (1982) reported another case.
Labrune et al. (1997) described 6 fetuses with normal chromosomes and severe craniofacial, limb, and visceral malformations observed during the second trimester of pregnancy. Two of these fetuses were monozygotic twins while a third one had a healthy dizygotic twin brother. One case of familial recurrence was observed. Autopsy and skeletal radiograph suggested several diagnoses, including XK aprosencephaly. The experience strengthened the possibility of autosomal recessive inheritance.
Renzetti et al. (2005) reported a girl with XK syndrome born to Libyan parents. She had a sloping forehead, microphthalmia, beaked nose, absent right thumb, and cutaneous syndactyly of toes 2 and 3. MRI and ophthalmic examinations showed microencephaly, pachygyria, and absent anterior chamber of the right eye. Her facial appearance was similar to that of her older brother who had died at age 18 months of respiratory failure. The familial component suggested autosomal recessive inheritance. An unrelated affected infant showed hypotelorism with craniofacial anomalies, abnormalities of the arms, and almost total aprosencephaly with focally displaced remnants of neural tissue.
Renzetti et al. (2005) reviewed the literature concerning XK syndrome and commented on the clinical variability and heterogeneity of the disorder. The authors concluded that it results from a developmental field defect.
Nomenclature
Lurie et al. (1979) coined the term 'aprosencephaly' and suggested the designation 'XK aprosencephaly syndrome,' with 'X' referring to the unknown surname of the patient described by Garcia and Duncan (1977) and 'K' to the surname of their patient.
Limbs \- Humerus and radius fused \- Oligodactyly Neuro \- Aprosencephaly \- Anencephaly Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
APROSENCEPHALY SYNDROME
|
c0431348
| 7,175 |
omim
|
https://www.omim.org/entry/207770
| 2019-09-22T16:30:52 |
{"omim": ["207770"], "orphanet": ["3469"], "synonyms": ["Alternative titles", "XK SYNDROME", "GARCIA-LURIE SYNDROME"]}
|
Human disease
Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis occurs when the thyroid gland releases excessive amounts of thyroxine (thyroid hormone).
SpecialtyEndocrinology
Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism (overactivity of the thyroid gland). Hypokalemia (a decreased potassium level in the blood) is usually present during attacks. The condition may be life-threatening if weakness of the breathing muscles leads to respiratory failure, or if the low potassium levels lead to cardiac arrhythmias (irregularities in the heart rate).[1][2] If untreated, it is typically recurrent in nature.[1]
The condition has been linked with genetic mutations in genes that code for certain ion channels that transport electrolytes (sodium and potassium) across cell membranes. The main ones are the L-type calcium channel α1-subunit[1] and potassium inward rectifier 2.6;[3] it is therefore classified as a channelopathy.[3] The abnormality in the channel is thought to lead to shifts of potassium into cells, under conditions of high thyroxine (thyroid hormone) levels, usually with an additional precipitant.
Treatment of the hypokalemia, followed by correction of the hyperthyroidism, leads to complete resolution of the attacks. It occurs predominantly in males of Chinese, Japanese, Vietnamese, Filipino, and Korean descent.[1] TPP is one of several conditions that can cause periodic paralysis.[4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetics
* 2.2 Thyroid disease
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 References
* 9 External links
## Signs and symptoms[edit]
An attack often begins with muscle pain, cramping, and stiffness.[5] This is followed by weakness or paralysis that tends to develop rapidly, usually in late evening or the early hours of the morning. The weakness is usually symmetrical;[5] the limb muscles closer to the trunk (proximal) are predominantly affected, and weakness tends to start in the legs and spread to the arms. Muscles of the mouth and throat, eyes, and breathing are usually not affected, but occasionally weakness of the respiratory muscles can cause life-threatening respiratory failure. Attacks typically resolve within several hours to several days, even in the absence of treatment.[1][2][5] On neurological examination during an attack, flaccid weakness of the limbs is noted; reflexes are usually diminished, but the sensory system is unaffected.[1][5] Mental status is not affected.[5]
Attacks may be brought on by physical exertion, drinking alcohol, or eating food high in carbohydrates or salt. This may explain why attacks are more common in summer when more people drink sugary drinks and engage in exercise. Exercise-related attacks tend to occur during a period of rest immediately after exercise; exercise may, therefore, be recommended to abort an attack.[1]
There may be symptoms of thyroid overactivity, such as weight loss, a fast heart rate, tremor, and perspiration;[1][2] but such symptoms occur in only half of all cases.[5] The most common type of hyperthyroidism, Graves' disease, may additionally cause eye problems (Graves' ophthalmopathy) and skin changes of the legs (pretibial myxedema).[6] Thyroid disease may also cause muscle weakness in the form of thyrotoxic myopathy, but this is constant rather than episodic.[5]
## Causes[edit]
### Genetics[edit]
Genetic mutations in the L-type calcium channel α1-subunit (Cav1.1) have been described in Southern Chinese with TPP. The mutations are located in a different part of the gene from those described in the related condition familial periodic paralysis. In TPP, the mutations described are single-nucleotide polymorphisms located in the hormone response element responsive to thyroid hormone, implying that transcription of the gene and production of ion channels may be altered by increased thyroid hormone levels. Furthermore, mutations have been reported in the genes coding for potassium voltage-gated channel, Shaw-related subfamily, member 4 (Kv3.4) and sodium channel protein type 4 subunit alpha (Na41.4).[1]
Of people with TPP, 33% from various populations were demonstrated to have mutations in KCNJ18, the gene coding for Kir2.6, an inward-rectifier potassium ion channel. This gene, too, harbors a thyroid response element.[3]
Certain forms of human leukocyte antigen (HLA)—especially B46, DR9, DQB1*0303, A2, Bw22, AW19, B17, and DRW8—are more common in TPP. Linkage to particular forms of HLA, which plays a central role in the immune response, might imply an immune system cause, but it is uncertain whether this directly causes TPP or whether it increases the susceptibility to Graves' disease, a known autoimmune disease.[1]
### Thyroid disease[edit]
The most common underlying form of thyroid disease associated with TPP is Graves' disease, a syndrome due to an autoimmune reaction that leads to overproduction of thyroid hormone.[6] TPP has also been described in people with other thyroid problems such as thyroiditis, toxic nodular goiter, toxic adenoma, TSH-producing pituitary adenoma, excessive ingestion of thyroxine or iodine,[1] and amiodarone-induced hyperthyroidism.[2]
## Mechanism[edit]
Na+/K+-ATPase maintains the normal gradients of sodium and potassium between cells and extracellular fluid, expending the cellular fuel ATP in doing so.
The muscle weakness and increased risk of irregular heart beat in TPP result from markedly reduced levels of potassium in the bloodstream. Potassium is not in fact lost from the body, but increased Na+/K+-ATPase activity (the enzyme that moves potassium into cells and keeps sodium in the blood) leads to shift of potassium into tissues, and depletes the circulation. In other types of potassium derangement, the acid-base balance is usually disturbed, with metabolic alkalosis and metabolic acidosis often being present. In TPP, these disturbances are generally absent. Hypokalemia leads to hyperpolarization of muscle cells, making the neuromuscular junction less responsive to normal nerve impulses and leading to decreased contractility of the muscles.[1]
It is not clear how the described genetic defects increase the Na+/K+-ATPase activity, but it is suspected that the enzyme becomes more active due to increased thyroid hormone levels. Hyperthyroidism increases the levels of catecholamines (such as adrenaline) in the blood, increasing Na+/K+-ATPase activity.[5] The enzyme activity is then increased further by the precipitating causes. For instance, increased carbohydrate intake leads to increased insulin levels; this is known to activate Na+/K+-ATPase. Once the precipitant is removed, the enzyme activity returns to normal levels.[1] It has been postulated that male hormones increase Na+/K+-ATPase activity, and that this explains why males are at a higher risk of TPP despite thyroid disease being more common in females.[2]
TPP is regarded as a model for related conditions, known as "channelopathies", which have been linked with mutations in ion channels; the majority of these conditions occurs episodically.[3]
## Diagnosis[edit]
Hypokalemia (low blood potassium levels) commonly occurs during attacks; levels below 3.0 mmol/l are typically encountered. Magnesium and phosphate levels are often found to be decreased. Creatine kinase levels are elevated in two thirds of cases, usually due to a degree of muscle injury; severe elevations suggestive of rhabdomyolysis (muscle tissue destruction) are rare.[1][2] Electrocardiography (ECG/EKG) may show tachycardia (a fast heart rate) due to the thyroid disease, abnormalities due to cardiac arrhythmia (atrial fibrillation, ventricular tachycardia), and conduction changes associated with hypokalemia (U waves, QRS widening, QT prolongation, and T wave flattening).[2] Electromyography shows changes similar to those encountered in myopathies (muscle diseases), with a reduced amplitude of the compound muscle action potentials (CMAPs);[4] they resolve when treatment has commenced.[1]
TPP is distinguished from other forms of periodic paralysis (especially hypokalemic periodic paralysis) with thyroid function tests on the blood. These are normal in the other forms, and in thyrotoxicosis the levels of thyroxine and triiodothyronine are elevated, with resultant suppression of TSH production by the pituitary gland.[1][6] Various other investigations are usually performed to separate the different causes of hyperthyroidism.[6]
## Treatment[edit]
The non-selective beta blocker propranolol can rapidly improve the symptoms of hyperthyroidism, including attacks of TPP.
In the acute phase of an attack, administration of potassium will quickly restore muscle strength and prevent complications. However, caution is advised as the total amount of potassium in the body is not decreased, and it is possible for potassium levels to overshoot ("rebound hyperkalemia"); slow infusions of potassium chloride are therefore recommended while other treatment is commenced.[1]
The effects of excess thyroid hormone typically respond to the administration of a non-selective beta blocker, such as propranolol (as most of the symptoms are driven by increased levels of adrenaline and its effect on the β-adrenergic receptors). Subsequent attacks may be prevented by avoiding known precipitants, such as high salt or carbohydrate intake, until the thyroid disease has been adequately treated.[1]
Treatment of the thyroid disease usually leads to resolution of the paralytic attacks. Depending on the nature of the disease, the treatment may consist of thyrostatics (drugs that reduce production of thyroid hormone), radioiodine, or occasionally thyroid surgery.[1][2]
## Epidemiology[edit]
TPP occurs predominantly in males of Chinese, Japanese, Vietnamese, Filipino, and Korean descent,[1] as well as Thais,[3] with much lower rates in people of other ethnicities.[1] In Chinese and Japanese people with hyperthyroidism, 1.8–1.9% experience TPP. This is in contrast to North America, where studies report a rate of 0.1–0.2%.[1][2] Native Americans, who share a genetic background with East Asians, are at an increased risk.[1]
The typical age of onset is 20–40. It is unknown why males are predominantly affected, with rates in males being 17- to 70-fold those in females, despite thyroid overactivity being much more common in women.[1][2]
## History[edit]
Carl Friedrich Otto Westphal
After several case reports in the 18th and 19th centuries, periodic paralysis was first described in full by the German neurologist Carl Friedrich Otto Westphal (1833–1890) in 1885.[7][8] In 1926 the Japanese physician Tetsushiro Shinosaki, from Fukuoka, observed the high rate of thyroid disease in Japanese people with periodic paralysis.[9][10] The first English-language report, in 1931, originated from Dunlap and Kepler, physicians at the Mayo Clinic; they described the condition in a patient with features of Graves' disease.[2][10] In 1937 periodic paralysis was linked with hypokalemia, as well as precipitation of attacks with glucose and insulin.[11][12] This phenomenon has been used as a diagnostic test.[12]
In 1974 it was discovered that propranolol could prevent attacks.[13] The concept of channelopathies and the link with specific ion channel mutations emerged at the end of the 20th century.[1][3][4]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y Kung AW (July 2006). "Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge". The Journal of Clinical Endocrinology and Metabolism. 91 (7): 2490–5. doi:10.1210/jc.2006-0356. PMID 16608889.
2. ^ a b c d e f g h i j k Pothiwala P, Levine SN (2010). "Analytic review: thyrotoxic periodic paralysis: a review". Journal of Intensive Care Medicine. 25 (2): 71–7. doi:10.1177/0885066609358849. PMID 20089526. S2CID 24394963.
3. ^ a b c d e f Ryan DP, Ptácek LJ (October 2010). "Episodic neurological channelopathies". Neuron. 68 (2): 282–92. doi:10.1016/j.neuron.2010.10.008. PMID 20955935. S2CID 16230992.
4. ^ a b c Fontaine B (2008). "Periodic paralysis". Advances in Genetics. 63: 3–23. doi:10.1016/S0065-2660(08)01001-8. ISBN 978-0-12-374527-9. PMID 19185183.
5. ^ a b c d e f g h Lin SH (January 2005). "Thyrotoxic periodic paralysis" (PDF). Mayo Clinic Proceedings. 80 (1): 99–105. doi:10.4065/80.1.99. PMID 15667036.
6. ^ a b c d Weetman AP (October 2000). "Graves' disease". The New England Journal of Medicine. 343 (17): 1236–48. doi:10.1056/NEJM200010263431707. PMID 11071676.
7. ^ Westphal CF (1885). "Über einen merkwürdigen Fall von periodischer Lähmung aller vier Extremitäten mit gleichzeitigem Erlöschen der elektrischen Erregbarkeit während der Lähmung". Berl. Klin. Wochenschr. (in German). 22: 489–91 and 509–11.
8. ^ Weber F, Lehmann-Horn F (28 April 2009). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Hypokalemic Periodic Paralysis". GeneReviews. PMID 20301512.
9. ^ Shinosaki T (1926). "Klinische Studien über die periodische Extremitätenlähmung". Zeitschrift für die gesamte Neurologie und Psychiatrie (in German). 100 (1): 564–611. doi:10.1007/BF02970940.
10. ^ a b Dunlap H, Kepler K (1931). "A syndrome resembling familial periodic paralysis occurring in the course of exophthalmic goiter". Endocrinology. 15 (6): 541–6. doi:10.1210/endo-15-6-541.
11. ^ Aitken RS, Allott EN, Castleden LI, Walker M (1937). "Observations on a case of familial periodic paralysis". Clin. Sci. 3: 47–57.
12. ^ a b McFadzean AJ, Yeung R (February 1967). "Periodic paralysis complicating thyrotoxicosis in Chinese". British Medical Journal. 1 (5538): 451–5. doi:10.1136/bmj.1.5538.451. PMC 1840834. PMID 6017520.
13. ^ Yeung RT, Tse TF (October 1974). "Thyrotoxic periodic paralysis. Effect of propranolol". The American Journal of Medicine. 57 (4): 584–90. doi:10.1016/0002-9343(74)90010-2. PMID 4432863.
## External links[edit]
Classification
D
* ICD-10: G72.3
* ICD-9-CM: 359.3
* OMIM: 188580 613239
* MeSH: D020514
* DiseasesDB: 29122
External resources
* MedlinePlus: 000319
* eMedicine: article/1171678
* GeneReviews: Hypokalemic Periodic Paralysis
* Orphanet: 79102
* v
* t
* e
Diseases of muscle, neuromuscular junction, and neuromuscular disease
Neuromuscular-
junction disease
* autoimmune
* Myasthenia gravis
* Lambert–Eaton myasthenic syndrome
* Neuromyotonia
Myopathy
Muscular dystrophy
(DAPC)
AD
* Limb-girdle muscular dystrophy 1
* Oculopharyngeal
* Facioscapulohumeral
* Myotonic
* Distal (most)
AR
* Calpainopathy
* Limb-girdle muscular dystrophy 2
* Congenital
* Fukuyama
* Ullrich
* Walker–Warburg
XR
* dystrophin
* Becker's
* Duchenne
* Emery–Dreifuss
Other structural
* collagen disease
* Bethlem myopathy
* PTP disease
* X-linked MTM
* adaptor protein disease
* BIN1-linked centronuclear myopathy
* cytoskeleton disease
* Nemaline myopathy
* Zaspopathy
Channelopathy
Myotonia
* Myotonia congenita
* Thomsen disease
* Neuromyotonia/Isaacs syndrome
* Paramyotonia congenita
Periodic paralysis
* Hypokalemic
* Thyrotoxic
* Hyperkalemic
Other
* Central core disease
Mitochondrial myopathy
* MELAS
* MERRF
* KSS
* PEO
General
* Inflammatory myopathy
* Congenital myopathy
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Thyrotoxic periodic paralysis
|
c2749982
| 7,176 |
wikipedia
|
https://en.wikipedia.org/wiki/Thyrotoxic_periodic_paralysis
| 2021-01-18T18:55:15 |
{"gard": ["10814"], "umls": ["C2749982", "C0268446"], "icd-9": ["359.3"], "icd-10": ["G72.3"], "orphanet": ["79102"], "wikidata": ["Q2702863"]}
|
A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Biotin-thiamine-responsive basal ganglia disease
|
c1843807
| 7,177 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65284
| 2021-01-23T19:07:20 |
{"gard": ["10237"], "mesh": ["C537658"], "omim": ["607483"], "umls": ["C1843807"], "icd-10": ["G93.8"], "synonyms": ["BBGD", "BTBGD", "Biotin-responsive basal ganglia disease"]}
|
Complication of pregnancy associated with severe pre-eclampsia
HELLP syndrome
SpecialtyObstetrics
SymptomsFeeling tired, retaining fluid, headache, nausea, upper abdominal pain, blurry vision, seizures[1]
ComplicationsDisseminated intravascular coagulation (DIC), placental abruption, kidney failure, pulmonary edema[1]
Usual onsetLast 3 months of pregnancy or shortly after childbirth[1]
TypesComplete, incomplete[2]
CausesUnknown[1]
Risk factorsPreeclampsia, eclampsia, previously having HELLP, mother older than 25 years, white[1]
Diagnostic methodBlood tests[2]
Differential diagnosisViral hepatitis, thrombotic thrombocytopenic purpura, cholangitis, hemolytic uremic syndrome[2]
TreatmentDelivery of the baby as soon as possible, management of blood pressure[1][2]
Prognosis<1% risk of death (mother)[3]
Frequency~0.7% of pregnancies[2]
HELLP syndrome is a complication of pregnancy characterized by hemolysis, elevated liver enzymes, and a low platelet count.[1] It usually begins during the last three months of pregnancy or shortly after childbirth.[1] Symptoms may include feeling tired, retaining fluid, headache, nausea, upper right abdominal pain, blurry vision, nosebleeds, and seizures.[1] Complications may include disseminated intravascular coagulation, placental abruption, and kidney failure.[1]
The cause is unknown.[1] The condition occurs in association with pre-eclampsia or eclampsia.[1] Other risk factors include previously having the syndrome, a mother older than 25 years, and being white.[1] The underlying mechanism may involve abnormal placental development.[4] Diagnosis is generally based on blood tests finding signs of red blood cell breakdown (lactate dehydrogenase greater than 600 U/l), an aspartate transaminase greater than 70 U/l, and platelets less than 100x109/l.[2] If not all the criteria are present, the condition is incomplete.[2]
Treatment generally involves delivery of the baby as soon as possible.[1] This is particularly true if the pregnancy is beyond 34 weeks of gestation.[2] Medications may be used to decrease blood pressure and blood transfusions may be required.[1] Corticosteroids may be used to speed development of the baby's lungs, if it is early in pregnancy.[2]
HELLP syndrome occurs in about 0.7% of pregnancies and affects about 15% of women with eclampsia or severe pre-eclampsia.[5][2] Death of the mother is uncommon (< 1%).[1][3] Outcomes in the babies are generally related to how premature they are at birth.[1] The syndrome was first named in 1982 by American gynaecologist Louis Weinstein.[2]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Pathophysiology
* 3.1 Inflammation and coagulation
* 3.2 Low platelet count
* 3.3 Blood breakdown
* 3.4 Liver
* 4 Diagnosis
* 4.1 Classification
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 See also
* 10 References
* 11 External links
## Signs and symptoms[edit]
The first signs of HELLP usually start appearing midway through the third trimester, though the signs can appear in earlier and later stages.[6] Symptoms vary in severity and between individuals and are commonly mistaken with normal pregnancy symptoms, especially if they are not severe.[7]
HELLP syndrome patients suffer from general discomfort followed by severe epigastric pain or right upper abdominal quadrant pain, accompanied by nausea, vomiting, backache, anaemia, and hypertension. Some patients may also suffer from a headache and visual issues. These symptoms may also become more severe at night.[8][9][10][11][12] As the condition progresses and worsens, a spontaneous hematoma occurs following the rupture of the liver capsule, which occurs more frequently in the right lobe. The presence of any combinations of these symptoms, subcapsular liver hematoma in particular, warrants an immediate check-up due to the high morbidity and mortality rates of this condition.[13][14][15]
## Risk factors[edit]
Elevated body mass index and metabolic disorders, as well as antiphospholipid syndrome, significantly increase the risk of HELLP syndrome in all female patients. Females who have had or are related to a female with previous HELLP syndrome complications tend to be at a higher risk in all their subsequent pregnancies.[16][17][18]
The risk of HELLP syndrome is not conclusively associated with a specific genetic variation, but likely a combination of genetic variations, such as FAS gene, VEGF gene, glucocorticoid receptor gene and the tol-like receptor gene, increase the risk.[17][19][20][21][22]
## Pathophysiology[edit]
The pathophysiology is still unclear and an exact cause is yet to be found. However, it shares a common mechanism, which is endothelial cell injury, with other conditions, such as acute kidney injury and thrombotic thrombocytopenic purpura.[23][24] Increasing the understanding of HELLP syndrome's pathophysiology will enhance diagnostic accuracy, especially in the early stages. This will lead to advancements in the prevention, management, and treatment of the condition, which will increase the likelihood of both maternal and fetal survival and recovery.[6][25]
### Inflammation and coagulation[edit]
As a result of endothelial cell injury, a cascade of pathological reactions manifests and become increasingly severe and even fatal as signs and symptoms progress. Following endothelial injury, vasospasms and platelet activation occur alongside the decreased release of the endothelium-derived relaxing factor and increased the release of von Willebrand factor (vWF), leading to general activation of the coagulation cascade and inflammation. Placental components, such as inflammatory cytokines and syncytiotrophoblast particles interact with the maternal immune system and endothelial cells, further promoting coagulation and inflammation.[26][27] These interactions also elevate leukocyte numbers and interleukin concentrations, as well as increase complement activity.[28][29]
### Low platelet count[edit]
vWF degradation in HELLP syndrome is inhibited due to decreased levels of degrading proteins, leading to an increased exposure of platelets to vWF. As a result, thrombotic microangiopathies develop and lead to thrombocytopenia.[30]
### Blood breakdown[edit]
As a result of the high number of angiopathies, the erythrocytes fragment as they pass through the blood vessels with damaged endothelium and large fibrin networks, leading to macroangiopathic haemolytic anaemia. As a consequence of hemolysis, lactic acid dehydrogenase (LDH) and hemoglobin are released, with the latter binding to serum bilirubin or haptoglobin.[8][16]
### Liver[edit]
During the coagulation cascade, fibrin is deposited in the liver and leads to hepatic sinusoidal obstruction and vascular congestion, which increase intrahepatic pressure. Placenta-derived FasL (CD95L), which is toxic to human hepatocytes, leads to hepatocyte apoptosis and necrosis by inducing the expression of TNFα and results in the release of liver enzymes. Hepatic damages are worsened by the disrupted portal and total hepatic blood flow that result as a consequence of the microangiopathies. Collectively, widespread endothelial dysfunction and hepatocellular damage result in global hepatic dysfunction often leading to liver necrosis, haemorrhages, and capsular rupture.[31][32][33]
## Diagnosis[edit]
Early and accurate diagnosis, which relies on laboratory tests and imaging exams, is essential for treatment and management and significantly reduces the morbidity rate. However, diagnosis of the syndrome is challenging, especially due to the variability in the signs and symptoms and the lack of consensus amongst healthcare professionals. Similarities to other conditions, as well as normal pregnancy features, commonly lead to misdiagnosed cases or more often, delayed diagnosis.[6][25]
There is a general consensus regarding the main three diagnostic criteria of HELLP syndrome, which include hepatic dysfunction, thrombocytopenia and microangiopathic haemolytic anaemia in patients suspected to have preeclampsia.
* A blood smear will often exhibit abnormalities, such as schistocytes, bur cells, and helmet cells, which indicate erythrocyte damage.[citation needed]
* Thrombocytopenia, which is the earliest coagulopathy present in all HELLP syndrome patients, is indicated by low platelet count (below 100 x 109 L-1) or by testing the levels of fibrin metabolites and antithrombin III.
* Elevated serum levels of certain proteins, in particular, LDH, alanine transaminase (ALT) and aspartate transaminase (AST), are indicative of hepatic dysfunction. Extremely high serum levels of these proteins, specifically LDH levels > 1,400 IU/L, AST levels > 150 IU/L and ALT levels > 100 IU/L, significantly elevate the risk of maternal mortality.[31][2][8][9][23][32][34][35][36][37][excessive citations]
A number of other, but less conclusive, clinical diagnostic criteria are also used in diagnosis alongside the main clinical diagnostic criteria for HELLP syndrome.
* De novo manifestation of hypertension with systolic pressure and diastolic pressure above 160mmHg and 110 mmHg, respectively.
* Proteinuria, leucocytosis and elevated uric acid concentrations > 7.8 mg.
* Decreased serum haptoglobin and haemoglobin levels.
* Increased serum bilirubin levels and visual disturbances.[38][39]
Imaging tests, such as ultrasound, tomography or magnetic resonance imaging (MRI), are instrumental in the correct diagnosis of HELLP syndrome in patients with suspected liver dysfunction. Unurgent cases must undergo MRI, but laboratory tests, such as glucose determination, are more encouraged in mild cases of HELLP syndrome.[31][40]
### Classification[edit]
A classification system, which was developed in Mississippi, measures the severity of the syndrome using the lowest observed platelet count in the patients alongside the appearance of the other two main clinical criteria. Class I is the most severe, with a relatively high risk of morbidity and mortality, compared to the other two classes.[41]
* Class I HELLP syndrome is characterised by a platelet count below 50,000/µL.
* Class II HELLP syndrome is characterised by a platelet count of 50,000-100,000/µL.
* Class III HELLP syndrome is characterised by a platelet count of 100,000-150,000/µL.
Another classification system, introduced in Memphis, categorises HELLP syndrome based on its expression.
* Partial expression of the condition is characterised by the manifestation of one or two of the main diagnostic criteria.
* The complete expression of the condition is characterised by the manifestation of all three main diagnostic criteria.[42]
## Treatment[edit]
The only current recommended and most effective treatment is delivery of the baby, as the signs and symptoms diminish and gradually disappear following the delivery of the placenta. Prompt delivery is the only viable option in cases with multiorgan dysfunction or multiorgan failure, haemorrhage and considerable danger to the fetus. Certain medications are also used to target and alleviate specific symptoms.[31][2][43][44]
Corticosteroids are of unclear benefit, though there is tentative evidence that they can increase the mother's platelet count.[45][46]
## Prognosis[edit]
With treatment, maternal mortality is about 1 percent, although complications such as placental abruption, acute kidney injury, subcapsular liver hematoma, permanent liver damage, and retinal detachment occur in about 25% of women. Perinatal mortality (stillbirths plus death in infancy) is between 73 and 119 per 1000 babies of woman with HELLP, while up to 40% are small for gestational age.[47] In general, however, factors such as gestational age are more important than the severity of HELLP in determining the outcome in the baby.[48]
## Epidemiology[edit]
HELLP syndrome affects 10-20% of pre-eclampsia patients and is a complication in 0.5-0.9% of all pregnancies.[6][49] Caucasian women over 25 years of age comprise most of the diagnosed HELLP syndrome cases.[50] In 70% of cases before childbirth, the condition manifests in the third trimester, but 10% and 20% of the cases exhibit symptoms before and after the third trimester, respectively. Postpartum occurrences are also observed in 30% of all HELLP syndrome cases.[51]
## History[edit]
HELLP syndrome was identified as a distinct clinical entity (as opposed to severe pre-eclampsia) by Dr. Louis Weinstein in 1982.[31] In a 2005 article, Weinstein wrote that the unexplained postpartum death of a woman who had haemolysis, abnormal liver function, thrombocytopenia, and hypoglycemia motivated him to review the medical literature and to compile information on similar women.[10] He noted that cases with features of HELLP had been reported as early as 1954.[10][52]
## See also[edit]
* Acute fatty liver of pregnancy
* Hypertrophic decidual vasculopathy
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q "HELLP syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2018. Retrieved 5 October 2018.
2. ^ a b c d e f g h i j k l m Haram K, Svendsen E, and Abildgaard U (February 2009). "The HELLP syndrome: clinical issues and management. A Review". BMC Pregnancy Childbirth. 9: 8. doi:10.1186/1471-2393-9-8. PMC 2654858. PMID 19245695.
3. ^ a b Odze, Robert D.; Goldblum, John R. (2009). Surgical Pathology of the GI Tract, Liver, Biliary Tract, and Pancreas. Elsevier Health Sciences. p. 1240. ISBN 9781416040590.
4. ^ Cohen, Hannah; O'Brien, Patrick (2015). Disorders of Thrombosis and Hemostasis in Pregnancy: A Guide to Management. Springer. p. 305. ISBN 9783319151205.
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7. ^ Visser W, Wallenburg HC (February 1995). "Temporising management of severe pre-eclampsia with and without the HELLP syndrome". Br J Obstet Gynaecol. 102 (2): 111–7. doi:10.1111/j.1471-0528.1995.tb09062.x. PMID 7756201. S2CID 20571108.
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18. ^ Hupuczi P, Rigo B, Sziller I, Szabo G, Szigeti Z, Papp Z (2006). "Follow-up analysis of pregnancies complicated by HELLP syndrome". Fetal Diagn Ther. 21 (6): 519–22. doi:10.1159/000095665. PMID 16969007. S2CID 25427426.
19. ^ Sziller I, Hupuczi P, Normand N, Halmos A, Papp Z, Witkin SS (March 2009). "Fas (TNFRSF6) gene polymorphism in pregnant women with hemolysis, elevated liver enzymes, and low platelets and in their neonates". Obstet Gynecol. 107 (3): 582–7. doi:10.1097/01.AOG.0000195824.51919.81. PMID 16507928. S2CID 25044126.
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22. ^ van Rijn BB, Franx A, Steegers EA, de Groot CJ, Bertina RM, Pasterkamp G (April 2008). "Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome". PLOS ONE. 3 (4): e1865. Bibcode:2008PLoSO...3.1865V. doi:10.1371/journal.pone.0001865. PMC 2270909. PMID 18382655.
23. ^ a b Geary M (August 1997). "The HELLP syndrome". Br J Obstet Gynaecol. 104 (8): 877–91. doi:10.1111/j.1471-0528.1997.tb14346.x. PMID 9255078. S2CID 45100401.
24. ^ Sibai BM, Kustermann L, Velasco J (July 1994). "DCurrent understanding of severe preeclampsia, pregnancy-associated hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, hemolysis, elevated liver enzymes, and low platelet syndrome, and postpartum acute renal failure: different clinical syndromes or just different names?". Curr Opin Nephrol Hypertens. 3 (4): 436–45. doi:10.1097/00041552-199407000-00010. PMID 8076148.
25. ^ a b Benedetto C, Marozio L, Tancredi A, Picardo E, Nardolillo P, Tavella AM, Salton L (2011). "Biochemistry of HELLP syndrome". Adv Clin Chem. Advances in Clinical Chemistry. 53: 85–104. doi:10.1016/B978-0-12-385855-9.00004-7. ISBN 9780123858559. PMID 21404915.
26. ^ Gardiner C, Tannetta DS, Simms CA, Harrison P, Redman CW, Sargent IL (2011). "Syncytiotrophoblast microvesicles released from pre-eclampsia placentae exhibit increased tissue factor activity". PLOS ONE. 6 (10): e26313. Bibcode:2011PLoSO...626313G. doi:10.1371/journal.pone.0026313. PMC 3194796. PMID 22022598.
27. ^ Hulstein JJ, van Runnard Heimel PJ, Franx A, Lenting PJ, Bruinse HW, Silence K, de Groot PG, Fijnheer R (December 2006). "Acute activation of the endothelium results in increased levels of active von Willebrand factor in hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome". PLOS ONE. 4 (12): 2569–75. doi:10.1111/j.1538-7836.2006.02205.x. PMID 16968329. S2CID 2270586.
28. ^ Terrone DA, Rinehart BK, May WL, Moore A, Magann EF, Martin JN Jr (August 2000). "SLeukocytosis is proportional to HELLP syndrome severity: evidence for an inflammatory form of preeclampsia". South Med J. 93 (8): 768–71. doi:10.1097/00007611-200093080-00005. PMID 10963506.
29. ^ Haeger M, Unander M, Norder-Hansson B, Tylman M, Bengtsson A (January 1992). "Complement, neutrophil, and macrophage activation in women with severe preeclampsia and the syndrome of hemolysis, elevated liver enzymes, and low platelet count". Obstet Gynecol. 79 (1): 19–26. PMID 1727579.
30. ^ Lattuada A, Rossi E, Calzarossa C, Candolfi R, Mannucci PM (September 2003). "Mild to moderate reduction of a von Willebrand factor cleaving protease (ADAMTS-13) in pregnant women with HELLP microangiopathic syndrome". Haematologica. 88 (9): 1029–34. PMID 12969811.
31. ^ a b c d e Weinstein L (January 1982). "Syndrome of hemolysis, elevated liver enzymes, and low platelet count: a severe consequence of hypertension in pregnancy". Am J Obstet Gynecol. 142 (2): 159–67. doi:10.1016/s0002-9378(16)32330-4. PMID 7055180.
32. ^ a b Norwitz ER, Hsu CD, Repke JT (June 2002). "Acute complications of preeclampsia". Clin Obstet Gynecol. 45 (2): 308–29. doi:10.1097/00003081-200206000-00004. PMID 12048392. S2CID 32982061.
33. ^ Stevenson JT, Graham DJ (September 1995). "Hepatic hemorrhage and the HELLP syndrome: a surgeon's perspective". Am Surg. 61 (9): 756–60. PMID 7661469.
34. ^ Martin JN Jr, Rinehart BK, May WL, Magann EF, Terrone DA, Blake PG (June 1999). "The spectrum of severe preeclampsia: comparative analysis by HELLP (hemolysis, elevated liver enzyme levels, and low platelet count) syndrome classification". Am J Obstet Gynecol. 180 (6 Pt 1): 1373–84. doi:10.1016/s0002-9378(99)70022-0. PMID 10368474.
35. ^ Martin JN Jr, Rose CH, Briery CM (October 2006). "Understanding and managing HELLP syndrome: the integral role of aggressive glucocorticoids for mother and child". Am J Obstet Gynecol. 195 (4): 914–34. doi:10.1016/j.ajog.2005.08.044. PMID 16631593.
36. ^ Martin JN Jr, Blake PG, Perry KG, Jr, McCaul JF, Hess LW, Martin RW (June 1992). "The natural history of HELLP syndrome: patterns of disease progression and regression". Am J Obstet Gynecol. 164 (6 Pt 1): 1500–9, discussion 1509–13. doi:10.1016/0002-9378(91)91429-z. PMID 2048596.
37. ^ Catanzarite VA, Steinberg SM, Mosley CA, Landers CF, Cousins LM, Schneider JM (September 1995). "Severe preeclampsia with fulminant and extreme elevation of aspartate aminotransferase and lactate dehydrogenase levels: high risk for maternal death". Am J Perinatol. 12 (5): 310–3. doi:10.1055/s-2007-994482. PMID 8540929.
38. ^ Roberts JM, Taylor RN, Musci TJ, Rodgers GM, Hubel CA, McLaughlin MK (November 1989). "Preeclampsia: an endothelial cell disorder". Am J Obstet Gynecol. 161 (5): 1200–4. doi:10.1016/0002-9378(89)90665-0. PMID 2589440.
39. ^ Sibai BM (July 1996). "Treatment of hypertension in pregnant women". N Engl J Med. 335 (45): 257–65. doi:10.1056/NEJM199607253350407. PMID 8657243.
40. ^ Weinstein L (November 1985). "Preeclampsia/eclampsia with hemolysis, elevated liver enzymes, and thrombocytopenia". Obstet Gynecol. 66 (5): 657–60. PMID 4058824.
41. ^ Martin JN Jr, Blake PG, Lowry SL, Perry KG Jr, Files JC, Morrison JC (November 1990). "Pregnancy complicated by preeclampsia-eclampsia with the syndrome of hemolysis, elevated liver enzymes, and low platelet count: how rapid is postpartum recovery?". Obstet Gynecol. 76 (5 Pt 1): 737–41. doi:10.1097/00006250-199011000-00001. PMID 2216215.
42. ^ Audibert F, Friedman SA, Frangieh AY, Sibai BM (August 1996). "Clinical utility of strict diagnostic criteria for the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome". Am J Obstet Gynecol. 175 (2): 460–4. doi:10.1016/s0002-9378(96)70162-x. PMID 8765269.
43. ^ Haddad B, Barton JR, Livingston JC, Chahine R, Sibai BM (August 2000). "Risk factors for adverse maternal outcomes among women with HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome". Am J Obstet Gynecol. 183 (2): 444–8. doi:10.1067/mob.2000.105915. PMID 10942484.
44. ^ Rath W, Loos W, Kuhn W, Graeff H (August 1990). "The importance of early laboratory screening methods for maternal and fetal outcome in cases of HELLP syndrome". Eur J Obstet Gynecol Reprod Biol. 36 (1–2): 43–51. doi:10.1016/0028-2243(90)90048-6. PMID 2365128.
45. ^ Woudstra, DM; Chandra, S; Hofmeyr, GJ; Dowswell, T (8 September 2010). "Corticosteroids for HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome in pregnancy". The Cochrane Database of Systematic Reviews (9): CD008148. doi:10.1002/14651858.CD008148.pub2. PMC 4171033. PMID 20824872.
46. ^ Aloizos S, Seretis C, Liakos N, Aravosita P, Mystakelli C, Kanna E, Gourgiotis (May 2013). "HELLP syndrome: understanding and management of a pregnancy-specific disease". J Obstet Gynaecol. 33 (4): 331–7. doi:10.3109/01443615.2013.775231. PMID 23654309. S2CID 9250437.
47. ^ Belfort, Michael A.; Steven Thornton; George R. Saade (2002). Hypertension in Pregnancy. CRC Press. pp. 159–60. ISBN 9780824708276. Retrieved 2012-04-13.
48. ^ Stevenson, David Kendal; William E. Benītz (2003). Fetal and Neonatal Brain Injury. Cambridge University Press. p. 260. ISBN 9780521806916. Retrieved 2012-04-13.
49. ^ Santema JG, Koppelaar I, Wallenburg HC (January 1995). "Hypertensive disorders in twin pregnancy". Eur J Obstet Gynecol Reprod Biol. 58 (1): 13–9. doi:10.1016/0028-2243(94)01982-d. hdl:1765/61934. PMID 7758654.
50. ^ Padden MO (September 1999). "HELLP syndrome: recognition and perinatal management". American Family Physician. 60 (3): 829–36, 839. PMID 10498110.
51. ^ Barton JR, Sibai BM (December 2004). "Diagnosis and management of hemolysis, elevated liver enzymes, and low platelets syndrome". Clin Perinatol. 31 (4): 807–33. doi:10.1016/j.clp.2004.06.008. PMID 15519429.
52. ^ Pritchard JA, Weisman R Jr, Ratnoff OD, Vosburgh GJ (Jan 1954). "Intravascular hemolysis, thrombocytopenia and other hematologic abnormalities associated with severe toxemia of pregnancy". N Engl J Med. 250 (3): 89–98. doi:10.1056/NEJM195401212500301. PMID 13119851.
## External links[edit]
Classification
D
* ICD-10: O14.2
* ICD-9-CM: 642.5
* MeSH: D017359
* DiseasesDB: 30805
External resources
* MedlinePlus: 000890
* eMedicine: ped/1885
* Patient UK: HELLP syndrome
* Orphanet: 244242
* 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
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* Umbilical cord prolapse
* Uterine inversion
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Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
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* Childbirth-related posttraumatic stress disorder
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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
|
HELLP syndrome
|
c0162739
| 7,178 |
wikipedia
|
https://en.wikipedia.org/wiki/HELLP_syndrome
| 2021-01-18T18:57:40 |
{"gard": ["8528"], "mesh": ["D017359"], "umls": ["C0162739"], "orphanet": ["244242"], "wikidata": ["Q1563513"]}
|
Autoimmune progesterone dermatitis
SpecialtyDermatology
Autoimmune progesterone dermatitis may appear as urticarial papules, deep gyrate lesions, papulovesicular lesions, an eczematous eruption, or as targetoid lesions.[1]:82 Autoimmune progesterone dermatitis initially manifests with eye symptoms, e.g. burning, and progresses into rashes. Its relapsing-remitting pattern in women correspond to the progesterone levels during the menstrual cycle, which spike twice a month. It is an extremely rare disease.
## See also[edit]
* 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.
## External links[edit]
Classification
D
* MeSH: C535299
External resources
* eMedicine: article/712365
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
|
Autoimmune progesterone dermatitis
|
c1260879
| 7,179 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_progesterone_dermatitis
| 2021-01-18T19:05:58 |
{"gard": ["9139"], "mesh": ["C535299"], "umls": ["C1260879"], "wikidata": ["Q4826347"]}
|
A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-5 (EKVP5) is caused by homozygous mutation in the KRT83 gene (602765) on chromosome 12q13. One such family has been reported.
For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).
Clinical Features
Shah et al. (2017) reported a large Pakistani kindred in which 4 individuals, including a brother and sister, presented 'typical' progressive symmetric erythrokeratodermia within the first 2 years of life. Affected family members exhibited symmetric lichenified hyperkeratotic plaques over the face, arms, legs, hands, and feet, as well as under the axillae, elbows, and knees, with accentuated creases over the knees and elbows and multiple peridigital constrictions on the dorsa of the fingers. They also showed palmoplantar hyperkeratosis with thick nails on the fingers and toes, and joint stiffening of the elbows, hands, knees, and feet. Perspiration, hair, teeth, hearing, and intelligence were normal in all. Although there were no documented inbreeding loops, the kindred was from a rural region of the Punjab province of Pakistan where consanguinity is common.
INHERITANCE \- Autosomal recessive SKELETAL Limbs \- Joint stiffness (elbows and knees) Hands \- Joint stiffness (hands) Feet \- Joint stiffness (feet) SKIN, NAILS, & HAIR Skin \- Hyperkeratosis \- Lichenified hyperkeratotic plaques, symmetric (face, arms, axillae, legs, hands, feet) \- Accentuated creases over knees and elbows \- Palmoplantar hyperkeratosis \- Peridigital constrictions on dorsa of fingers Nails \- Thick fingernails \- Thick toenails MISCELLANEOUS \- Based on report of 1 Pakistani kindred (last curated October 2017) \- Onset in first 2 years of life \- All family members had normal hair, teeth, and sweating \- No erythematous patches MOLECULAR BASIS \- Caused by mutation in the keratin 83 gene (KRT83, 602765.0003 ) ▲ 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
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
|
c4540331
| 7,180 |
omim
|
https://www.omim.org/entry/617756
| 2019-09-22T15:44:56 |
{"doid": ["0080251"], "omim": ["617756"], "orphanet": ["316"], "synonyms": ["Darier-Gottron disease", "Erythrokeratodermia progressiva symmetrica", "Progressive symmetric erythrokeratodermia, Gottron type"]}
|
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Sexual anhedonia" – news · newspapers · books · scholar · JSTOR (April 2013)
Sexual anhedonia, also known as pleasure dissociative orgasmic disorder, is a condition in which an individual cannot feel pleasure (see anhedonia) from an orgasm. It is thought to be a variant of hypoactive sexual desire disorder.
## Contents
* 1 Overview
* 2 Causes
* 3 Treatment
* 4 See also
* 5 References
* 6 Bibliography
## Overview[edit]
Normally, a human being is able to feel pleasure from an orgasm. Upon reaching a climax, chemicals are released in the brain and motor signals are activated that will cause quick cycles of muscle contraction in the corresponding areas of both males and females. Sometimes, these signals can cause other involuntary muscle contractions such as body movements and vocalization. Finally, during orgasm, upward neural signals go to the cerebral cortex and feelings of intense pleasure are experienced. People who have this disorder are aware of reaching an orgasm, as they can feel the physical effects of it, but they experience very limited or no sort of pleasure.[1]
## Causes[edit]
It is thought that people who suffer from this disorder suffer from a dysfunction in the release of the chemical dopamine in the nucleus accumbens, the brain's primary reward center. This part of the brain is thought to play a role in pleasurable activities, including laughter, addiction, and music. Additionally, it is thought that depression, drug addiction, high levels of prolactin, low testosterone, and uses of certain medications might play a role in inhibiting dopamine. A spinal cord injury or chronic fatigue syndrome might also occasionally cause this disorder.[2] Age may also be a cause of this disorder.[3]
A sudden-onset sexual anhedonia can also be a symptom of sensory neuropathy, which is most commonly the result of pyridoxine toxicity[4] (e.g., from large doses of vitamin B6 supplements). In this case, the sexual dysfunction promptly resolves spontaneously once the B6 supplementation is stopped.[citation needed]
Increased serum prolactin (PRL)[5] concentration in patients brains from psychiatric medicine can also affect sexuality.[6] Psychiatric medicine is known to cause the brain to form more dopamine receptors for the dopamine blocking effect. The normal amount of dopamine released during sex is insufficient to stimulate the larger number of dopamine receptors.[7][8][9][10][11]
## Treatment[edit]
As sexual anhedonia is the source of considerable dissatisfaction among its sufferers, several treatment methods have been devised to help patients cope. Exploration of psychological factors is one method, which includes exploring past trauma, abuse, and prohibitions in the cultural and religious history of the person. Sex therapy might also be used as a way of helping a sufferer realign and examine his or her expectations of an orgasm. Contributing medical causes must also be ruled out and medications might have to be switched when appropriate. Additionally, blood testing might help determine levels of hormones and other things in the bloodstream that might inhibit pleasure. This condition can also be treated with drugs that increase dopamine, such as oxytocin, along with other drugs. In general, it is recommended that a combination of psychological and physiological treatments should be used to treat the disorder.[12]
Other drugs which may be helpful in the treatment of this condition include dopamine agonists, oxytocin, phosphodiesterase type 5 inhibitors, and alpha-2 receptor blockers like yohimbine.[13]
## See also[edit]
* Anhedonia
* Dyspareunia
* Dysorgasmia
## References[edit]
1. ^ Perelman MA (2011). "Anhedonia/PDOD: Overview". The Institute For Sexual Medicine. Retrieved 14 February 2011.
2. ^ Perelman MA (2011). "Anhedonia/PDOD: Causes". The Institute For Sexual Medicine. Archived from the original on April 15, 2013. Retrieved 14 February 2011.
3. ^ Comprehensive Textbook of Sexual Medicine By Kar, page 18
4. ^ Schaumburg, Herbert; Kaplan, Jerry; Windebank, Anthony; Vick, Nicholas; Rasmus, Stephen; Pleasure, David; Brown, Mark J. (1983). "Sensory Neuropathy from Pyridoxine Abuse — A New Megavitamin Syndrome - NEJM". New England Journal of Medicine. 309 (8): 445–448. doi:10.1056/nejm198308253090801. PMID 6308447.
5. ^ Peuskens J, Pani L, Detraux J, De Hert M (May 2014). "The effects of novel and newly approved antipsychotics on serum prolactin levels: a comprehensive review". CNS Drugs. 28 (5): 421–53. doi:10.1007/s40263-014-0157-3. PMC 4022988. PMID 24677189.
6. ^ Konarzewska B, Szulc A, Popławska R, Galińska B, Juchnowicz D (2008). "[Impact of neuroleptic-induced hyperprolactinemia on sexual dysfunction in male schizophrenic patients]". Psychiatria Polska. 42 (1): 87–95. PMID 18567406.
7. ^ Whitaker L, Cooper S (10 July 2014). Pharmacological Treatment of College Students with Psychological Problems. Routledge. ISBN 9781317954453. Retrieved 17 April 2018 – via Google Books.
8. ^ Tupala E, Haapalinna A, Viitamaa T, Männistö PT, Saano V (June 1999). "Effects of repeated low dose administration and withdrawal of haloperidol on sexual behaviour of male rats". Pharmacology & Toxicology. 84 (6): 292–5. doi:10.1111/j.1600-0773.1999.tb01497.x. PMID 10401732.
9. ^ Martin-Du Pan R (1978). "[Neuroleptics and sexual dysfunction in man. Neuroendocrine aspects]". Schweizer Archiv für Neurologie, Neurochirurgie und Psychiatrie = Archives Suisses de Neurologie, Neurochirurgie et de Psychiatrie (in French). 122 (2): 285–313. PMID 29337.
10. ^ "Download Limit Exceeded". CiteSeerX 10.1.1.325.3090. Cite journal requires `|journal=` (help)
11. ^ de Boer MK, Castelein S, Wiersma D, Schoevers RA, Knegtering H (May 2015). "The facts about sexual (Dys)function in schizophrenia: an overview of clinically relevant findings". Schizophrenia Bulletin. 41 (3): 674–86. doi:10.1093/schbul/sbv001. PMC 4393701. PMID 25721311.
12. ^ Perelman MA (2011). "Anhedonia/PDOD: Treatment". The Institute For Sexual Medicine. Archived from the original on 23 July 2010. Retrieved 14 February 2011.
13. ^ Goldstein I. "Orgasmic Anhedonia/ PDOD: Treatment". The Institute for Sexual Medicine. Archived from the original on 5 July 2013. Retrieved 15 July 2014.
## Bibliography[edit]
* Csoka AB, Csoka A, Bahrick A, Mehtonen OP (January 2008). "Persistent sexual dysfunction after discontinuation of selective serotonin reuptake inhibitors". The Journal of Sexual Medicine. 5 (1): 227–33. doi:10.1111/j.1743-6109.2007.00630.x. PMID 18173768.
* Courtois F, Charvier K, Leriche A, Vézina JG, Côté I, Raymond D, Jacquemin G, Fournier C, Bélanger M (Oct 2008). "Perceived physiological and orgasmic sensations at ejaculation in spinal cord injured men". J. Sex. Med. 5 (10): 2419–30. doi:10.1111/j.1743-6109.2008.00857.x. PMID 18466272.
* Soler JM, Previnaire JG, Plante P, Denys P, Chartier-Kastler E (December 2008). "Midodrine improves orgasm in spinal cord-injured men: the effects of autonomic stimulation". The Journal of Sexual Medicine. 5 (12): 2935–41. doi:10.1111/j.1743-6109.2008.00844.x. PMID 18422493.
* IsHak WW, Berman DS, Peters A (April 2008). "Male anorgasmia treated with oxytocin". The Journal of Sexual Medicine. 5 (4): 1022–1024. doi:10.1111/j.1743-6109.2007.00691.x. PMID 18086171.
* v
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Mental and behavioral disorders
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* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Sexual anhedonia
|
c0234019
| 7,181 |
wikipedia
|
https://en.wikipedia.org/wiki/Sexual_anhedonia
| 2021-01-18T18:28:27 |
{"umls": ["C0234019"], "icd-10": ["F52.0"], "wikidata": ["Q7458756"]}
|
A number sign (#) is used with this entry because of evidence that frontotemporal dementia and/or amyotrophic lateral sclerosis-4 (FTDALS4) is caused by heterozygous mutation in the TBK1 gene (604834) on chromosome 12q14.
Description
Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).
For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).
Clinical Features
Freischmidt et al. (2015) reported 13 Caucasian families of European origin with amyotrophic lateral sclerosis. The mean age at onset was 60 years, and about 50% of patients showed cognitive impairment, often progressing to fulminant FTD. Bulbar symptoms were reported in 87% of patients during the disease course, with bulbar-onset observed in 15%. Postmortem examination of 1 patient showed massive TDP43 (605078)-positive perinuclear inclusions in the temporal lobe and p62 (SQSTM1; 601530)-positive perinuclear inclusions in the parahippocampal gyrus, but not in other parts of the brain.
Pottier et al. (2015) reported 3 unrelated woman with FTDALS4 presenting as frontotemporal dementia or Alzheimer disease. The age at onset ranged from 70 to 80 years and death occurred between 72 and 90 years.
Inheritance
The transmission pattern of FTDALS4 in the families reported by Freischmidt et al. (2015) was consistent with autosomal dominant inheritance and incomplete penetrance.
Pottier et al. (2015) reported a deceased patient (case B) showing digenic inheritance of a neurodegenerative disorder: whole-genome sequencing identified heterozygous mutations in the OPTN (602432; G538EfsX27) and TBK1 (R117X) genes. He presented with rapidly progressive cognitive and language difficulties at age 68 years, becoming almost mute by age 69. Other features included trouble swallowing, jerky movements of the hands, and slow movements, but there was no obvious clinical evidence of motor neuron disease. The patient showed symptoms of frontal dementia and was diagnosed with primary progressive aphasia. He died at age 72. Postmortem examination showed severe focal cortical atrophy of the frontal lobe, atrophy of the amygdala and hippocampus, loss of pigment in the substantia nigra, and midbrain atrophy. There were p62- (601530) and TDP43-positive neuronal and glial inclusions. There was no neuronal loss in the motor cortex or brainstem. He had no family history of a similar disorder.
Molecular Genetics
Cirulli et al. (2015) performed whole-exome sequencing of 2,869 ALS patients and 6,405 controls. The analysis implicated TBK1 as an ALS gene (discovery p = 1.12 x 10(-5), replication p = 5.78 x 10(-7), combined p = 3.60 x 10(-11)), to potentially explain 0.905% of ALS cases. TBK1 binds to and phosphorylates a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN; 602432) and p62 (SQSTM1; 601530), both of which have been implicated in ALS. Cirulli et al. (2015) concluded that these observations revealed a key role of the autophagic pathway in ALS.
In affected members from 13 European Caucasian families with FTDALS4, Freischmidt et al. (2015) identified 8 different heterozygous loss-of-function mutations in the TBK1 gene (see, e.g., 604834.0001-604834.0005). Mutations in the first 9 families were found by whole-exome sequencing of 252 patients with ALS, and accounted for about 4% of cases overall. In vitro studies of most of the mutations indicated that they resulted in haploinsufficiency. There was evidence of incomplete penetrance. One of the families also carried a mutation in the FUS gene (137070), consistent with oligogenic inheritance. In addition, 4 heterozygous missense mutations were found (see, e.g., E696K, 604834.0006) that were shown to cause impaired TBK1 function in in vitro studies.
In 3 unrelated patients with FTDALS4, Pottier et al. (2015) identified heterozygous missense mutations in the TBK1 gene (see, e.g., 604834.0006 and 604834.0007). The mutations were found by whole-genome sequencing of 107 deceased patients with FTD. Western blot analysis of patient cells showed decreased levels of the mutant protein in 2 of the patients.
INHERITANCE \- Autosomal dominant RESPIRATORY \- Bulbar weakness ABDOMEN Gastrointestinal \- Swallowing difficulties \- Dysphagia MUSCLE, SOFT TISSUES \- Muscle weakness \- Amyotrophy \- Fasciculations \- Fibrillations NEUROLOGIC Central Nervous System \- Frontotemporal dementia \- Amyotrophic lateral sclerosis \- Language impairment \- Decreased fluency \- Upper motor neuron signs \- Lower motor neuron signs \- Dysarthria \- Mutism \- Hyperreflexia \- Hyporeflexia \- Cortical atrophy Behavioral Psychiatric Manifestations \- Executive dysfunction \- Disinhibition \- Personality changes \- Abnormal behavior \- Apathy MISCELLANEOUS \- Adult onset \- Progressive disorder \- Phenotypic variability MOLECULAR BASIS \- Caused by mutation in the tank-binding kinase 1 gene (TBK1, 604834.0001 ) ▲ 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
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
|
c3888102
| 7,182 |
omim
|
https://www.omim.org/entry/616439
| 2019-09-22T15:48:54 |
{"doid": ["0110069"], "mesh": ["C566288"], "omim": ["616439"], "orphanet": ["275872"]}
|
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Ollier disease
|
c0014084
| 7,183 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=296
| 2021-01-23T18:12:48 |
{"gard": ["7251"], "mesh": ["D004687"], "omim": ["166000"], "umls": ["C0013366", "C0014084"], "icd-10": ["Q78.4"], "synonyms": ["Dyschondroplasia"]}
|
On the basis of a family in which 3 brothers and their maternal grandfather were affected, Middleton et al. (1975) concluded that an X-linked form may exist. None of 3 sisters was affected. See 193000.
GU \- Vesicoureteral reflux Inheritance \- X-linked ▲ 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
|
VESICOURETERAL REFLUX, X-LINKED
|
c1839114
| 7,184 |
omim
|
https://www.omim.org/entry/314550
| 2019-09-22T16:17:04 |
{"mesh": ["C564042"], "omim": ["314550"]}
|
Fissure of the nipple
An irritated nipple, or jogger's nipple, acquired while riding a bike on a warm day.
Fissure of the nipple, colloquially referred to as "jogger's nipple", is a condition that is the result of irritation of one or both nipples as the result of chafing, the friction of clothing against the nipple during physical exercise. The issue is commonly seen in athletes, such as runners or surfers[1] who do not wear rash guards.
## See also[edit]
* Cracked nipple
* List of cutaneous conditions
## References[edit]
1. ^ Iain Brown. "Surfer's Nipple". Causes of Nipple and Breast Pain in Surfers. SurfersNipple.com. Archived from the original on 27 April 2014. Retrieved 4 June 2013.
## External links[edit]
Classification
D
* ICD-10: N64.0, O92.1
* ICD-9-CM: 611.2
* v
* t
* e
Breast disease
Inflammation
* Mastitis
* Nonpuerperal mastitis
* Subareolar abscess
* Granulomatous mastitis
Physiological changes
and conditions
* Benign mammary dysplasia
* Duct ectasia of breast
* Chronic cystic mastitis
* Mammoplasia
* Gynecomastia
* Adipomastia (lipomastia, pseudogynecomastia)
* Breast hypertrophy
* Breast atrophy
* Micromastia
* Amastia
* Anisomastia
* Breast engorgement
Nipple
* Nipple discharge
* Galactorrhea
* Inverted nipple
* Cracked nipples
* Nipple pigmentation
Masses
* Galactocele
* Breast cyst
* Breast hematoma
* Breast lump
* Pseudoangiomatous stromal hyperplasia
Other
* Pain
* Tension
* Ptosis
* Fat necrosis
* Amazia
* 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
This medical 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
|
Fissure of the nipple
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c0152453
| 7,185 |
wikipedia
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https://en.wikipedia.org/wiki/Fissure_of_the_nipple
| 2021-01-18T18:28:44 |
{"umls": ["C0152453"], "icd-9": ["611.2"], "icd-10": ["N64.0", "O92.1"], "wikidata": ["Q5455245"]}
|
Cognitive and affective symptoms of cerebellum damage
Cerebellar cognitive affective syndrome
Other namesSchmahmann's syndrome
SpecialtyNeurology
Cerebellar cognitive affective syndrome (CCAS), also called Schmahmann's syndrome[1] is a condition that follows from lesions (damage) to the cerebellum of the brain. It refers to a constellation of deficits in the cognitive domains of executive function, spatial cognition, language, and affect resulting from damage to the cerebellum.[2][3][4][5][6] Impairments of executive function include problems with planning, set-shifting, abstract reasoning, verbal fluency, and working memory, and there is often perseveration, distractibility and inattention. Language problems include dysprosodia, agrammatism and mild anomia. Deficits in spatial cognition produce visual–spatial disorganization and impaired visual–spatial memory. Personality changes manifest as blunting of affect or disinhibited and inappropriate behavior. These cognitive impairments result in an overall lowering of intellectual function.[2][4] CCAS challenges the traditional view of the cerebellum being responsible solely for regulation of motor functions. It is now thought that the cerebellum is responsible for monitoring both motor and nonmotor functions. The nonmotor deficits described in CCAS are believed to be caused by dysfunction in cerebellar connections to the cerebral cortex and limbic system.[2][6][7]
## Contents
* 1 Signs and symptoms
* 1.1 Psychiatric Disorders
* 2 Cause
* 3 Pathology
* 3.1 Cerebellar pathways
* 3.2 Cerebellar anatomy
* 3.3 Lateralization
* 4 Treatments
* 5 Future research
* 6 References
## Signs and symptoms[edit]
The CCAS has been described in both adults and children.[3] The precise manifestations may vary on an individual basis, likely reflecting the precise location of the injury in the cerebellum.[4] These investigators[5] subsequently elaborated on the affective component of the CCAS, i.e., the neuropsychiatric phenomena. They reported that patients with injury isolated to the cerebellum may demonstrate distractibility, hyperactivity, impulsiveness, disinhibition, anxiety, ritualistic and stereotypical behaviors, illogical thought and lack of empathy, aggression, irritability, ruminative and obsessive behaviors, dysphoria and depression, tactile defensiveness and sensory overload, apathy, childlike behavior, and inability to comprehend social boundaries and assign ulterior motives.[5]
The CCAS can be recognized by the pattern of deficits involving executive function, visual-spatial cognition, linguistic performance and changes in emotion and personality. Underdiagnosis may reflect lack of familiarity of this syndrome in the scientific and medical community. The nature and variety of the symptoms may also prove challenging. Levels of depression, anxiety, lack of emotion, and affect deregulation can vary between patients.[6] The symptoms of CCAS are often moderately severe following acute injury in adults and children, but tend to lessen with time. This supports the view that the cerebellum is involved with the regulation of cognitive processes.[8][9]
### Psychiatric Disorders[edit]
There are a number of psychiatric disorders that are thought to be related to dysfunction of the cerebellum and that appear similar to symptoms of CCAS.[4] It has been suggested that lesions in the cerebellum may be responsible for certain characteristics of psychiatric disorders, such as schizophrenia, depression, bipolar disorder, attention deficit hyperactivity disorder (ADHD), developmental dyslexia, Down syndrome, and Fragile X syndrome.[4][6][10][11] Schmahmann’s dysmetria of thought hypothesis has been applied to these psychiatric disorders. In schizophrenia, it has been suggested that there is dysfunction of the cortical-thalamo-cerebellar circuit, which leads to problems with emotional behaviors and cognition.[12] Supporting this idea are postmortem studies that have shown smaller anterior portions of the vermis[13] and reduced density of the Purkinje cells in the vermis in schizophrenia.[14] There are several pieces of evidence that support the hypothesis that symptoms of some psychiatric disorders are the result of cerebellar dysfunction. One study found that people with schizophrenia had smaller inferior vermis and less cerebellar hemispheric asymmetry than control adults.[14] It has also been found that individuals with ADHD have smaller posterior inferior lobes than a control group.[15] Other studies have suggested that the size of the vermis is correlated with the severity of ADHD. A study of people with dyslexia showed lower activation via positron emission tomography (PET) in the cerebellum during a motor task relative to a control group.[16] It may be possible to further understand the pathology of these psychiatric disorders by studying CCAS.
## Cause[edit]
The causes of CCAS lead to variations in symptoms, but a common core of symptoms can be seen regardless of etiology. Causes of CCAS include cerebellar agenesis, dysplasia and hypoplasia, cerebellar stroke, tumor, cerebellitis, trauma, and neurodegenerative diseases (such as progressive supranuclear palsy and multiple system atrophy). CCAS can also be seen in children with prenatal, early postnatal, or developmental lesions.[3] In these cases there are lesions of the cerebellum resulting in cognitive and affect deficits. The severity of CCAS varies depending on the site and extent of the lesion. In the original report that described this syndrome, patients with bihemispheric infarction, pancerebellar disease, or large unilateral posterior inferior cerebellar artery (PICA) infarcts had more cognitive deficits than patients with small right PICA infarcts, small right anterior interior cerebellar artery infarcts or superior cerebellar artery (SCA) territory. Overall, patients with damage to either the posterior lobe of the cerebellum or with bilateral lesions had the greatest severity of symptoms, whereas patients with lesions in the anterior lobe had less severe symptoms.[2] In children, it was found that those with astrocytoma performed better than those with medulloblastoma on neuropsychological tests.[3] When diagnosing a patient with CCAS, medical professionals must remember that CCAS has many different causes.
## Pathology[edit]
### Cerebellar pathways[edit]
There are pathways that have been proposed to explain the non-motor dysfunctions seen in CCAS. A leading view of CCAS is the dysmetria of thought hypothesis, which proposes that the non-motor deficits in CCAS are caused by dysfunction in the cerebrocerebellar system linking the cerebral cortex with the cerebellum.[2][7] The normal cerebellum is now thought to be responsible for regulating motor, cognitive and emotional behaviors. When there is some type of damage to the cerebellum, this regulation is affected, leading to deregulation of emotional behaviors. This effect has been compared to dysmetria of movement, which describes the motor dysfunctions seen after cerebellar lesions.[17] These ideas build upon earlier theories and results of investigations indicating that the cerebellum is linked with the frontal orbital cortex, limbic system, and reticular structures. It was proposed that these circuits are involved with emotional regulation, such that damage to this circuit would result in behavioral dysfunctions such as hyperactivity, apathy, and stimulus-seeking behaviors.[18]
Connections lead from the cerebral cortex (including sensorimotor regions as well as cognitively relevant association areas and emotion-related limbic areas) to the cerebellum by a two-stage feedfoward system. The pathway starts in the layer V neurons of the cerebral cortex that project via the cerebral peduncle to the neurons of the anterior portion of the pons (the basis pontis). The pontine axons projects via the contralateral middle cerebellar peduncle, terminating in the cerebellar cortex as mossy fibers. The feedback circuit from the cerebellum to the cerebral cortex is also a two-stage system. The cerebellar cortex projects to the deep cerebellar nuclei (the corticonuclear microcomplex). The deep nuclei then project to the thalamus, which in turn projects back to the cerebral cortex.[5] This cerebrocerebellar circuit is key to understanding the motor as well as the non-motor roles of the cerebellum. The relevant cognitive areas of the cerebral cortex that project to the cerebellum include the posterior parietal cortex (spatial awareness), the supramodal areas of the superior temporal gyrus (language), the posterior parahippocampal areas (spatial memory), the visual association areas in the parastriate cortices (higher-order visual processing), and the prefrontal cortex (complex reasoning, judgment attention, and working memory). There are also projections from the cingulate gyrus to the pons.[5] The organization of these anatomical pathways helps clarify the role the cerebellum plays in motor as well as non-motor functions. The cerebellum has also been shown to connect brainstem nuclei to the limbic system with implications for the function of the neurotransmitters serotonin, norepinephrine, and dopamine and the limbic system.[19] The connection with the limbic system presumably underlies the affective symptoms of CCAS.
### Cerebellar anatomy[edit]
It has been suggested that specific parts of the cerebellum are responsible for different functions. Mapping of the cerebellum has shown that sensorimotor, motor, and somatosensory information is processed in the anterior lobe, specifically in lobules V, VI, VIII A/B. The posterior lobe (notably cerebellar lobules VI and VII) is responsible for cognitive and emotional functions. Lobule VII includes the vermis in the midline, and the hemispheric parts of lobule VIIA (Crus I and Crus II), and lobule VIIB). This explains why CCAS occurs with damage to the posterior lobe.[20] In the study of Levisohn et al.[3] children with CCAS showed a positive correlation between damage to the midline vermis and impairments in affect. The authors hypothesized that deficits in affect are linked to damage of the vermis and fastigial nuclei, whereas deficits in cognition are linked to damage of the vermis and cerebellar hemispheres. These notions were consistent with the earlier suggestion (by psychiatrist Robert G. Heath[21]), that the vermis of the cerebellum is responsible for emotional regulation. The deep nuclei of the cerebellum also have specific functions. The interpositus nucleus is involved with motor function, the dentate nucleus with cognitive functions, and the fastigial nucleus with limbic functions.[5] It has been shown that phylogenetically the dentate nuclei developed with the association areas of the frontal cortex,[22] supporting the view that the dentate nucleus is responsible for cognitive functions.
### Lateralization[edit]
There have been studies that show laterality effects of cerebellar damage with relation to CCAS. Language in the cerebellum seems to be contralateral to the dominant language hemisphere in the frontal lobes, meaning if the language is dominant in the left hemisphere of the frontal lobes, the right side of the cerebellum will be responsible for language[23] (see Tedesco et al.[24] for a discussion of lack of lateralization). Lateralization is also observed with visuospatial functions. One study found that patients with left cerebellar lesions performed more poorly on a visuospatial task than did patients with right cerebellar lesions and healthy control adults.[25] It has also been shown that lesions of the right cerebellum result in greater cognitive deficits than lesions of the left hemisphere.[26]
## Treatments[edit]
The current treatments for CCAS focus on relieving the symptoms. One treatment is a cognitive-behavioral therapy (CBT) technique that involves making the patient aware of their cognitive problems. For example, many CCAS patients struggle with multitasking. With CBT, the patient would have to be aware of this problem and focus on just one task at a time. This technique is also used to relieve some motor symptoms.[5] In a case study with a patient who had a stroke and developed CCAS, improvements in mental function and attention were achieved through reality orientation therapy and attention process training. Reality orientation therapy consists of continually exposing the patient to stimuli of past events, such as photos. Attention process training consists of visual and auditory tasks that have been shown to improve attention. The patient struggled in applying these skills to “real-life” situations. It was the help of his family at home that significantly helped him regain his ability to perform activities of daily living. The family would motivate the patient to perform basic tasks and made a regular schedule for him to follow.[26]
Transcranial magnetic stimulation (TMS) has also been proposed to be a possible treatment of psychiatric disorders of the cerebellum. One study used TMS on the vermis of patients with schizophrenia. After stimulation, the patients showed increased happiness, alertness and energy, and decreased sadness. Neuropsychological testing post-stimulation showed improvements in working memory, attention, and visual spatial skill.[27] Another possible method of treatment for CCAS is doing exercises that are used to relieve the motor symptoms. These physical exercises have been shown to also help with the cognitive symptoms.[28]
Medications that help relieve deficits in traumatic brain injuries in adults have been proposed as candidates to treat CCAS. Bromocriptine, a direct D2 agonist, has been shown to help with deficits in executive function and spatial learning abilities. Methylphenidate has been shown to help with deficits in attention and inhibition. Neither of these drugs has yet been tested on a CCAS population.[10] It may also be that some of the symptoms of CCAS improve over time without any formal treatment. In the original report of CCAS, four patients with CCAS were re-examined one to nine months after their initial neuropsychological evaluation. Three of the patients showed improvement in deficits without any kind of formal treatment, though executive function was still found to be one standard deviation below average. In one patient, the deficits worsened over time. This patient had cerebellar atrophy and worsened in visual spatial abilities, concept formation, and verbal memory.[2] None of these treatments were tested on a large enough sample to determine if they would help with the general CCAS population. Further research needs to be done on treatments for CCAS.
## Future research[edit]
There is much research that needs to be conducted on CCAS. A necessity for future research is to conduct more longitudinal studies in order to determine the long-term effects of CCAS.[3] One way this can be done is by studying cerebellar hemorrhage that occurs during infancy. This would allow CCAS to be studied over a long period to see how CCAS affects development.[5] It may be of interest to researchers to conduct more research on children with CCAS, as the survival rate of children with tumors in the cerebellum is increasing.[3] Hopefully future research will bring new insights on CCAS and develop better treatments.
## References[edit]
1. ^ Manto M, Mariën P. Schmahmann’s syndrome - identification of the third cornerstone of clinical ataxiology. Cerebellum and Ataxias 2015, 2:2
2. ^ a b c d e f Schmahmann, J. D. & Sherman, J. C. (1998). The cerebellar cognitive affective syndrome. Brain, 121, 561-579.
3. ^ a b c d e f g Levisohn, L., Cronin-Golomb, A. & Schmahmann, J. D. (2000). Neuropsychological consequences of cerebellar tumor resection in children. Brain, 123, 1041-1050.
4. ^ a b c d e Schmahmann, J. D. (2001). The cerebellar cognitive affective syndrome: Clinical correlations of the dysmetria of thought hypothesis. International Review of Psychiatry, 13, 313-322.
5. ^ a b c d e f g h Schmahmann, J. D. (2010). The role of the cerebellum in cognition and emotion: Personal reflections since 1982 on the dysmetria of thought hypothesis, and its historical evolution from theory to therapy. Neuropsychological Review, 20, 236-260.
6. ^ a b c d Wolf, U., Rapoport, M. J., & Schweizer, T. A. (2009). Evaluating the affective component of the cerebellar cognitive affective syndrome. Journal of Neuropsychiatry and Clinical Neurosciences, 21, 245-253.
7. ^ a b Schmahmann, J. (1991). An emerging concept. The cerebellar contribution to higher function. Archives of Neurology, 48, 1178-1187.
8. ^ Courchesne, E. & Allen, G. (1997). Prediction and preparation, fundamental functions of the cerebellum. Learning & Memory, 4, 1-35.
9. ^ Hokkanen, L. S. K., Kauranen, V., Roine, R. O., Salonen, O., & Kotila, M. (2006). Subtle cognitive deficits after cerebellar infarcts. European Journal of Neurology, 13, 161-170.
10. ^ a b Yildiz, O., Kabatas, S., Yilmaz, C., Altinors, N., & Agaoglu, B. (2010). Cerebellar mutism syndrome and its relation to cerebellar cognitive and affective function: Review of the literature. Annals of Indian Academy of Neurology, 13, 23-27.
11. ^ Yucel, K., Nazarov, A., Taylor, V.H., Macdonald, K., Hall, G.B., MacQueen, G.M. (2012). Cerebellar vermis volume in major depressive disorder. Brain Structucture & Function, [Epub ahead of print]
12. ^ Andreasen, N. C., Nopoulos, P., O’Leary, D. S., Miller, D. D., Wassink, T. & Flaum, M. (1999). Defining the phenotype of schizophrenia: Cognitive dysmetria and its neural mechanisms. Biological Psychiatry, 46, 908-920.
13. ^ Reyes, M. G. & Gordon, A. (1981). Cerebellar vermis in schizophrenia. Lancet, 2, 700-701.
14. ^ a b Tran, K. D., Smutzer, G. S., Doty, R. L., & Arnold, S. E. (1998). Reduced Purkinje cell size in the cerebellar vermis of elderly patients with schizophrenia. American Journal of Psychiatry, 155, 1288-1290.
15. ^ Berquin, P. C., Giedd, J. N., Jacobsen, L. K., Hamburger, S. D., Krain, A. L., Rapoport, J. L., & Castellanos, F. X. (1998). Cerebellum in attention-deficit hyperactivity disorder: A morphometric MRI study. Neurology, 50, 1087-1093.
16. ^ Nicolson, R. I., Fawcett, A. J., Berry, E. L., Jenkins, I. H., Dean, P. & Brooks D. J. (1999). Association of abnormal cerebellar activation with motor learning difficulties in dyslexic adults. The Lancet, 353, 1662-1666.
17. ^ Schmahmann, J. (1991). An emerging concept. The cerebellar contribution to higher function. Archives of Neurology, 48, 1178-1187.
18. ^ Prescott, J. W. (1971). Early somatosensory deprivation as ontogenetic process in the abnormal development of the brain and behavior. In Moor-Jankowski J. & Goldsmith E.I. (Eds.), Medical Primatology 1970. Basel: Karger.
19. ^ Konarski, J. Z., McIntyre, R. S., Grupp, L. A., & Kennedy, S. H. (2005). Is the cerebellum relevant in the circuitry of neuropsychiatric disorders? Journal of Psychiatry & Neuroscience, 30, 178-176.
20. ^ Stoodley, C. J. & Schmahmann, J. D. (2009). Functional topography in the human cerebellum: A meta-analysis of neuroimaging studies. NeuroImage, 44, 489-501.
21. ^ Heath, R. G. (1997). Foreword. In J. D. Schmahmann (Ed.), The Cerebellum and Cognition. International Review Neurobiology, 41, xxiii-xxv. San Diego: Academic.
22. ^ Leiner, H. C., Leiner, A. L., & Dow, R. S. (1986). Does the cerebellum contribute to mental skills? Behavioral Neuroscience, 100, 443-454.
23. ^ Hubrich-Ungureanu, P., Kaemmerer, N., Henn, F. A., & Braus, D. F. (2002). Lateralized organization of the cerebellum in a silent verbal fluency task: a functional magnetic resonance imaging study in health volunteers. Neuroscience Letters, 319, 91-94.
24. ^ Tedesco, A. M., Chiricozzi, F. R., Clausi, S., Lupo, M., Molinari, M., & Leggio, M. G. (2011). The cerebellar cognitive profile. Brain, 2011 Oct 27 [Epub ahead of print].
25. ^ Molinari, M. & Leggio, M. G. (2007). Cerebellar information processing and visuospatial functions. The Cerebellum, 6, 214-220.
26. ^ a b Maeshima, S. & Osawa, A. (2007). Stroke rehabilitation in a patient with cerebellar cognitive affective syndrome. Brain Injury, 21, 877-883.
27. ^ Demirtas-Tatlidede, A., Freitas, C., Cromer, J. R., Safar, L., Ongur, D., Stone, W. S., Seidman L.J., Schmahmann, J.D., Pascual-Leone, A. (2010). Safety and proof of principle study of cerebellar vermal theta burst stimulation in refractory schizophrenia. Schizophrenia Research, 124, 91-100.
28. ^ Schmahmann, J. D. (1997). Therapeutic and research implications. International Review of Neurobiology, 41, 637-647.
*[v]: View this template
*[t]: Discuss this template
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Cerebellar cognitive affective syndrome
|
c2609040
| 7,186 |
wikipedia
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https://en.wikipedia.org/wiki/Cerebellar_cognitive_affective_syndrome
| 2021-01-18T18:56:57 |
{"wikidata": ["Q2031371"]}
|
Congenital stenosis of vena cava
Superior and inferior vena cava(on left)
SpecialtyMedical genetics
Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation.
In some cases, it can be asymptomatic,[1] and in other cases it can lead to fluid accumulation and cardiopulmonary collapse.[2]
## Contents
* 1 Symptoms and signs
* 2 Diagnosis
* 3 Treatments
* 4 Occurrences
* 5 References
* 6 External links
## Symptoms and signs[edit]
Congenital heart defects may not show signs or symptoms until later stages of the child's life and have a delayed diagnosis. [3] Congenital stenosis of the inferior vena cava is asymptomatic in many patients. [4] Adolescent males with the condition have shown to presents with symptoms such as spontaneous lower extremity DVT, leg swelling, leg pain, varices in the lower extremities, hepatic thrombosis and hematochezia. [4][5] Chylothorax has been observed rarely as a symptom of congenital stenosis of the superior vena cava in infant patients. [6] Chylothorax results as a rare complication in which chyle leaks into the thoracic space following direct incidental damage and can also lead to increased thoracic duct pressure. [6] Chylothorax leakage commonly occurs in patients with additional complex congenital heart lesions, increasing the risk of underlying vascular anomalies. [6] Other symptoms which may become present later than adolescence includes venous hypertension, post necrotic hepatic cirrhosis and portal hypertension from the manifestation of the condition. [7]
## Diagnosis[edit]
Congenital stenosis of the vena cava is a sub-classification of the overarching spectrum of congenital heart disease involving the vessels surrounding the heart resulting in disruption to normal cardiovascular blood flow. [5] Diagnosis commonly occurs in early adolescence, expressed as symptoms such as deep vein thrombosis (DVT) occurring spontaneously. [4] The mainstay diagnosis of the presenting DVT symptom is an ultrasound with venous Doppler. [4] Ultrasound with venous Doppler rarely identifies the inferior vena cava anomalies present from birth.[4] Difficulties in identifying the congenital stenosis of the vena cava makes diagnosis uncommon.[4] Diagnosis of congenital stenosis of the inferior vena cava can be rarely discovered through abdominal CT examinations, and may present with an array of clinical findings dependent on the drainage patterns of the individuals. [5] Further diagnostic tools such as a transthoracic echocardiogram can reveal the narrowing of the vena cava showing a low velocity of flow. [6] Congenital stenosis of the vena cava can also present as acute respiratory failure and effusion of the right lung on chest X-rays. [6]
## Treatments[edit]
Treatments may not be necessary for the congenital heart defect. [3] If required, treatments can include medication, catheter procedures, corrective surgery and heart transplants dependent on the severity of the defect, age of the patient and patient's general health. [3] Symptomatic relief of venous hypertension, associated with the congenital heart defect, can be achieved through surgery as it reduces the likelihood of hepatic vein thrombosis. [7] Intravascular stents are a treatment method for Congenital Stenosis of the Vena Cava. [8] Expandable metallic stents have been used as part of a procedure to dilate and maintain stenotic vena cava. [8] Experiments carried out on mongrel dogs resulted in some failures for dilation and early migration, and occlusion complications in patients. [8] Immediate relief of persisting symptoms occurred in two patients. [8]
Double balloon dilation is another technique used to treat stenosis of the vena cava. [9] Double balloon dilation involves catheters inserted in the left and right femoral vessels placed parallel to stenotic lesions and inflated simultaneously. [9] The two balloon technique creates a substantial decrease in pressure gradients by achieving greater dilation from the use of two smaller balloons as opposed to a single large balloon. [9] Balloons are inflated and deflated repeatedly to reduce the resistance of the vessels to inflation.[9] Once the balloons are removed an end-hole catheter is passed over the wires to ensure a moderate systemic pressure drop occurs and then a stent is placed. [9] Substantial pressure drops are common following single balloon dilation procedures. [9]
Hydrophilic catheter treatments can also be used through placement of the catheter through the femoral veins to access the stenosis in the vena cava to measure haemodynamic and angiography. [6] Angiography allows for visualisation of the stenosis in the vena cava and measurements of the pressures and length of narrowing can be obtained from the technique, including the narrowest diameter of the stenosis. [6] Balloon angioplasties can also be performed in the narrowed vena cava using Sterling balloons. [6] Dilations are also performed with higher pressure Dorado balloons, using the same wire as the Sterling balloon. [6] Sustained results of increased flow and significant reduction in obstructions following stent implantation occurs from balloon angioplasty treatments. [6]
## Occurrences[edit]
Congenital stenosis of the vena cava is a rare congenital heart disease affecting 0.7 - 8.7% of the population. [4] Vena cava anomalies are very rare and arise from incorrect development in the foetal heart. [3] The genetic occurrence leading to this condition is unknown but current studies identified the disease symptoms presents predominantly in adolescent males. [4] Prevalence of the condition is very low as stenotic anomalies in vena cavae development are uncommon. [1] Recognition of vena cava anomalies is difficult and can result in minor complications if left unrecognised.[3] Surgery is carried out for presenting symptoms associated with the condition.[3] Difficulties in diagnosis contribute to the low incident rates as many people live asymptomatically with this disease for many years, having no impact on the patients’ life.[4]
## References[edit]
1. ^ a b Koc Z, Oguzkurt L (May 2007). "Interruption or congenital stenosis of the inferior vena cava: prevalence, imaging, and clinical findings". Eur J Radiol. 62 (2): 257–66. doi:10.1016/j.ejrad.2006.11.028. PMID 17161574.
2. ^ Harrison, D; Sullivan, P; Christman, G; Takao, C (April 2017). "Intravascular Stent Implantation for Refractory Chylothorax Secondary to Congenital Superior Vena Cava Stenosis in an Infant" (PDF). Structural Heart Disease. 3 (2): 49–54. doi:10.12945/j.jshd.2017.010.16.
3. ^ a b c d e f Pagini A, Bassi M, Diso D, Anzidei M, Mantovani S, Poggi C, Venuta F, Anile M (February 2018). "Vena cava anomalies in thoracic surger". Journal of Cardiothoracic Surgery. 13 (1): 19. doi:10.1186/s13019-018-0704-y. PMC 5795860. PMID 29391034.
4. ^ a b c d e f g h i Halparin J, Mongale P, Newall F (April 2015). "Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males". Thrombosis Research. 135 (4): 648–651. doi:10.1016/j.thromres.2015.01.032. PMID 25684212.
5. ^ a b c "Congenital Heart Defects". Medline Plus. U.S. Department of Health and Human Services. August 2016.
6. ^ a b c d e f g h i j Harrison DJ, Sullivan PM, Christman G, Takao C (April 2017). "Intravascular Stent Implantation for Refractory Chylothorax Secondary to Congenital Superior Vena Cava Stenosis in an Infant". Journal of Structural Heart Disease. 3 (2): 49–54. doi:10.12945/j.jshd.2017.010.16.
7. ^ a b Smith L (February 2018). "A Case of Congenital Stenosis of the Inferior Vena Cava with Portal Hypertension". British Journal of Surgery. 52 (11): 913–916. doi:10.1002/bjs.1800521116. PMID 5842982.
8. ^ a b c d Charnsangavej C, Carrasco CH, Wallace S, Wright KC, Ogawa K, Richli W, Gianturco C (November 1986). "Stenosis of the vena cava: preliminary assessment of treatment with expandable metallic stents". Radiology. 161 (2): 295–298. doi:10.1148/radiology.161.2.3763891. PMID 3763891.
9. ^ a b c d e f Mullins CE, Nihill MR, Vick GW, Ludomirsky A, OLaughlin MP, Bricker JT, Judd VE (July 1987). "Double balloon technique for dilation of valvular or vessel stenosis in congenital and acquired heart disease". Journal of the American College of Cardiology. 10 (1): 107–114. doi:10.1016/S0735-1097(87)80168-7. PMID 2955014.
## External links[edit]
Classification
D
* ICD-10: Q26.0
* ICD-9-CM: 747.49
* v
* t
* e
Congenital vascular defects / Vascular malformation
Great arteries/
other arteries
Aorta
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Arteriovenous malformation
* Cerebral arteriovenous malformation
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
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*[GBR]: Great Britain
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*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Congenital stenosis of vena cava
|
c0265927
| 7,187 |
wikipedia
|
https://en.wikipedia.org/wiki/Congenital_stenosis_of_vena_cava
| 2021-01-18T18:30:17 |
{"icd-9": ["747.49"], "icd-10": ["Q26.0"], "wikidata": ["Q5160451"]}
|
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome-4C (CMS4C) associated with acetylcholine receptor (AChR) deficiency is caused by homozygous or compound heterozygous mutation in the CHRNE gene (100725) on chromosome 17p13.
Mutation in the CHRNE gene can also cause slow-channel CMS (CMS4A; 605809) and fast-channel CMS (CMS4B; 616324).
Description
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Clinical Features
Ohno et al. (1997) reported 3 patients with CMS and AChR deficiency. The first patient was an 11-year-old male who had decreased movements in utero, a weak cry and a feeble suck at birth, ptosis of the eyelids beginning at 5 months of age, and ophthalmoparesis beginning at 2 years of age. He always fatigued easily, could never run well, and had difficulty climbing steps. The second patient, an 8-year-old female, had a weak cry at birth, ptosis since age 18 months, easy fatigability, and inability to run. The third patient was a 31-year-old woman with weakness since infancy and numerous episodes of impaired respiration and fatigue on exertion. All 3 patients had absence of AChR antibodies, a decremental EMG response on stimulation of motor nerves, and a favorable response to anticholinesterase inhibitors. Two of the 3 patients had increased expression of CHRNG, suggesting compensatory mechanisms.
Sieb et al. (1998) described 2 families in which 5 individuals appeared to have autosomal recessive CMS characterized by deficiency of endplate AChR and utrophin (UTRN; 128240). All 5 patients suffered from ptosis and slowly progressive limb-girdle muscle weakness. All had abnormal decremental response on low frequency nerve stimulation, but there were no repetitive responses to single stimuli. The patients improved on anticholinesterase drugs. Three brothers in 1 family and a brother and sister in the other were affected. They were all young adults. Studies suggested that the patients had a defect in the development or maintenance of the postsynaptic clefts; whether this defect resulted from or caused reduced expression of utrophin or AChR was unclear.
Nichols et al. (1999) reported 2 sibs from a large consanguineous family who had congenital myasthenic syndrome associated with AChR deficiency. The sibs had a similar phenotype; presentation in childhood with ptosis and mild proximal limb weakness. Antibodies to AChR were absent and response to anticholinesterase inhibitors was favorable. EMG showed a decrement in the compound muscle action potential (CMAP) response, and muscle biopsy showed a decrease in the amplitude of MEPPs and a reduction in the number of endplate AChR.
Croxen et al. (2002) reported 2 sisters diagnosed in childhood with CMS and AChR deficiency. Serum anti-AChR antibody levels were negative in both patients. At the age of 34 years, the younger sister's condition deteriorated, with respiratory failure necessitating tracheostomy and assisted ventilation. Serum anti-AChR titers were elevated, indicating autoimmune myasthenia gravis (MG; 254200), and the patient was successfully treated with plasmapheresis, immunosuppression, and thymectomy. Molecular analysis identified compound heterozygous mutations in the CHRNE gene, consistent with autosomal recessive inheritance. Croxen et al. (2002) suggested that the epsilon-AChR gene mutations may predispose to later development of anti-AChR antibodies. The authors also noted that the younger sister had recently had 3 children and, unlike her sister, was homozygous for the HLA-DR3-B8-A1 phenotype, which is known to associate with autoimmune MG.
Mapping
Christodoulou et al. (1997) performed linkage studies in 12 families, 7 of them consanguineous, containing 36 patients with a diagnosis of familial infantile myasthenia. A combination of linkage search through the genome, DNA pooling, and homozygosity mapping localized the disorder to the telomeric region of chromosome 17p. A maximum lod score of 9.28 at theta = 0.034 was obtained between the disease locus and marker D17S1537. Haplotype analysis showed that the disease in all families was consistent with linkage to this region, thus providing evidence for genetic homogeneity of familial infantile myasthenia. Multipoint linkage analysis mapped the disease gene in the interval of approximately 4 cM between marker loci D17S1537 and D17S1298 with a maximum multipoint lod score of 12.07. Haplotype analysis and homozygosity by descent in affected individuals of the consanguineous families revealed results in agreement with the confinement of the disease region within the interval between marker loci D17S1537 and D17S1298 on 17p13.
Inheritance
The transmission pattern of CMS associated with AChR deficiency in the family reported by Sieb et al. (1998) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a patient with CMS associated with AChR deficiency, Engel et al. (1996) identified compound heterozygosity for two 1-bp insertions in the CHRNE gene (100725.0013; 100725.0014).
In 3 patients with CMS and AChR deficiency, Ohno et al. (1997) identified 6 biallelic mutations in the CHRNE gene (see, e.g., 100725.0004-100725.0005 and 100725.0015-100725.0016).
In 2 sibs with CMS and AChR deficiency, born to consanguineous parents, Nichols et al. (1999) identified homozygosity for a mutation in the CHRNE gene (100725.0011).
In 37 patients from 13 families with CMS associated with AChR deficiency, most of whom were consanguineous and previously reported by Christodoulou et al. (1997), Middleton et al. (1999) identified homozygous mutations in the CHRNE gene (see, e.g., 100725.0012).
In 2 affected members of 1 of the families reported by Sieb et al. (1998), Sieb et al. (2000) identified compound heterozygosity for 2 mutations in the CHRNE gene (100725.0006-100725.0007).
Population Genetics
In 13 patients from 11 Gypsy families with CMS and acetylcholinesterase deficiency, Abicht et al. (1999) identified a homozygous 1-bp deletion in the CHRNE gene (1267delG; 100725.0012). Genotype analysis indicated that the families derived from a common ancestor. Croxen et al. (1999) identified the 1267delG mutation in patients from India and Pakistan. Morar et al. (2004) used the 1267delG mutation and 4 other private mutations among the Roma Gypsies to infer some of the missing parameters relevant to the comprehensive characterization of Roma population history. Sharing of mutations and high carrier rates supported a strong founder effect. The identity of the congenital myasthenia 1267delG mutation in Gypsy and Indian/Pakistani chromosomes provided strong evidence for the Indian origins of the Gypsies. Hantai et al. (2004) reported a carrier rate of 3.74% for the 1267delG mutation in these ethnic groups.
Richard et al. (2008) identified homozygosity for the CHRNE 1293insG mutation (100725.0014) in 14 (60%) of 23 North African families with AChR deficiency. All 14 families were consanguineous, 9 of which originated from Algeria, 3 from Tunisia, and 1 each from Morocco and Libya. Haplotype analysis indicated a founder effect that occurred about 700 years ago. The phenotype was relatively homogeneous without fetal involvement and with moderate hypotonia and oculobulbar involvement, mild and stable disease course, and good response to acetylcholinesterase inhibitors.
Animal Model
Miller et al. (1984) demonstrated autosomal recessive inheritance with complete penetrance for congenital myasthenia gravis in smooth fox terrier dogs. In these animals, the trait is lethal; attempts to maintain affected dogs to adulthood were unsuccessful. Affected dogs have a decreased number of acetylcholine receptors in skeletal muscle. Acquired MG due to antibodies against the AChR of the neuromuscular junction occurs most often in adult dogs.
Cossins et al. (2004) generated transgenic mice that constitutively expressed Chrng (100730) in a Chrne-knockout background. These mice, in which neuromuscular transmission is mediated by fetal AChR, lived well into adulthood but showed striking similarities to human AChR deficiency syndrome. They displayed fatigable muscle weakness, reduced MEPPs and endplate potentials, reduced motor endplate AChR number, and altered endplate morphology.
History
Lecky et al. (1986) reported an 18-year-old girl, born of consanguineous parents, who had negligible postsynaptic alpha-bungarotoxin binding (see 113955), suggesting a deficiency of the acetylcholine receptor. Type 2 muscle fiber atrophy was seen in affected muscles, and endplates were elongated.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Long face \- Facial muscle weakness Eyes \- Ptosis \- Ophthalmoparesis Mouth \- High-arched palate \- Malocclusion \- Tongue weakness RESPIRATORY \- Respiratory insufficiency due to muscle weakness ABDOMEN Gastrointestinal \- Poor feeding \- Dysphagia SKELETAL \- Arthrogryposis multiplex in severe cases MUSCLE, SOFT TISSUES \- Generalized muscle weakness due to defect at the neuromuscular junction \- Muscle atrophy \- Hypotonia \- Gowers sign \- Easy fatigability \- Muscle cramps \- Decremental compound muscle action potential (CMAP) in response to repetitive nerve stimulation \- Decreased amplitude of miniature endplate potentials (MEPP) \- Poor development of the postsynaptic membrane \- Decreased numbers of acetylcholine receptors (AChR) in the postsynaptic membrane (less than 50% of normal) \- Preserved junctional folds \- Increased number of endplate regions distributed over increased span of muscle fiber \- Small nerve terminals \- Decreased postsynaptic areas of clefts and folds seen on muscle biopsy \- Decreased secondary clefts \- Mild kinetic abnormalities of the AChR (in some patients) NEUROLOGIC \- Delayed motor development due to muscle weakness VOICE \- Dysarthria \- Weak cry PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements (in some patients) MISCELLANEOUS \- Onset in infancy \- Variable severity \- Milder cases have onset in childhood or adulthood with history of muscle weakness since infancy \- because fetal CHRNG ( 100730 ) exhibits phenotypic rescue \- Favorable response to cholinesterase inhibitors \- Gypsy groups demonstrate a founder effect (1267delG, 100725.0012 ) MOLECULAR BASIS \- Caused by mutation in the cholinergic receptor, nicotinic, epsilon polypeptide gene (CHRNE, 100725.0004 ) ▲ 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
|
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
c0751882
| 7,188 |
omim
|
https://www.omim.org/entry/608931
| 2019-09-22T16:06:54 |
{"doid": ["0110679"], "mesh": ["D020294"], "omim": ["608931"], "orphanet": ["98913", "590"], "synonyms": ["MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY", "CMS Id, FORMERLY", "Alternative titles", "MYASTHENIC SYNDROME, CONGENITAL, TYPE Id"], "genereviews": ["NBK1168"]}
|
Quadrantanopia
Other namesQuadrant anopia
Right homonymous superior quadrantanopia. The areas of the field lost in each eye are shown as black areas. This visual field defect is characteristic of damage to Meyer's loop on the left side of the brain.
SpecialtyOphthalmology
Quadrantanopia, quadrantanopsia, refers to an anopia affecting a quarter of the field of vision.
It can be associated with a lesion of an optic radiation.[1] While quadrantanopia can be caused by lesions in the temporal and parietal lobes, it is most commonly associated with lesions in the occipital lobe.[2]
## Contents
* 1 Presentation
* 2 Homonymous inferior/superior quadrantanopia
* 3 Binasal/bitemporal quadrantanopia
* 4 Compensatory behaviors
* 5 References
* 6 External links
## Presentation[edit]
An interesting aspect of quadrantanopia is that there exists a distinct and sharp border between the intact and damaged visual fields, due to an anatomical separation of the quadrants of the visual field. For example, information in the left half of visual field is processed in the right occipital lobe and information in the right half of the visual field is processed in the left occipital lobe.[2]
Example of the sharp division between the blind and intact fields (for someone with hemianopsia, rather than quadrantanopia, in this case)
In a quadrantanopia that is partial, there also exists a distinct and sharp border between the intact and damaged field within the quadrant. The sufferer is able to detect light within the damaged visual field.[citation needed]
The prospects of recovering vision in the affected field are bleak. Occasionally, patients will spontaneously recover vision in the affected field within the first three months after the brain injury; however, vision loss remaining after this period of spontaneous recovery is traditionally thought to be permanent, certain companies now claim to be able to induce recovery of vision after this three-month period.[3]
## Homonymous inferior/superior quadrantanopia[edit]
Homonymous denotes a condition which affects the same portion of the visual field of each eye.[citation needed]
Homonymous inferior quadrantanopia is a loss of vision in the same lower quadrant of visual field in both eyes whereas a homonymous superior quadrantanopia is a loss of vision in the same upper quadrant of visual field in both eyes.[4]
A lesion affecting one side of the temporal lobe may cause damage to the inferior optic radiations (known as the temporal pathway or Meyer's loop) which can lead to superior quadrantanopia on the contralateral side of both eyes (colloquially referred to as "pie in the sky"); if the superior optic radiations (parietal pathway) are lesioned, the visual loss occurs on the inferior contralateral side of both eyes and is referred to as an inferior quadrantanopia.[5]
## Binasal/bitemporal quadrantanopia[edit]
Binasal (either inferior or superior) quadrantanopia affects either the upper or lower inner visual quadrants closer to the nasal cavity in both eyes. Bitemporal (either inferior or superior) quadrantanopia affects either the upper or lower outer visual quadrants in both eyes.[citation needed]
## Compensatory behaviors[edit]
Individuals with quadrantanopia often modify their behavior to compensate for the disorder, such as tilting of the head to bring the affected visual field into view.[6] Drivers with quadrantanopia, who were rated as safe to drive, drive slower, utilize more shoulder movements and, generally, corner and accelerate less drastically than typical individuals or individuals with quadrantanopia who were rated as unsafe to drive. The amount of compensatory movements and the frequency with which they are employed is believed to be dependent on the cognitive demands of the task; when the task is so difficult that the subject's spatial memory is no longer sufficient to keep track of everything, patients are more likely to employ compensatory behavior of biasing their gaze to the afflicted side.[7] Teaching individuals with quadrantanopia compensatory behaviors could potentially be used to help train patients to re-learn to drive safely.[citation needed]
## References[edit]
1. ^ Yale- Cranial Nerve 2, pg. 11 Archived June 7, 2008, at the Wayback Machine
2. ^ a b Kolb, B & Whishaw, I.Q. Human Neuropsychology, Sixth Edition, p.361; Worth Publishers (2008) ISBN 978-0-7167-9586-5
3. ^ Rehabilitation for Homonymous Hemianopia and Quadrantanopia Archived July 1, 2013, at the Wayback Machine
4. ^ William J. Weiner: Neurology for the Non-Neurologist, p.526; Lippincott Williams & Wilkins (July 2010) ISBN 1605472395
5. ^ Central Visual Pathways Archived March 10, 2008, at the Wayback Machine
6. ^ Visual Fields in Brain Injury - Hemianopsia.net Everything you need to know about Hemianopsia
7. ^ Wood JM, McGwin G, Elgin J, Vaphiades MS, Braswell RA, DeCarlo DK, Kline LB, Owsley C (2011). "Hemianopic and quadrantanopic field loss, eye and head movements, and driving". Invest. Ophthalmol. Vis. Sci. 52 (3): 1220–5. doi:10.1167/iovs.10-6296. PMC 3101691. PMID 21367969.
## External links[edit]
Classification
D
* ICD-10: H53.4
* ICD-9-CM: 368.46
Wikimedia Commons has media related to Quadrantanopia.
* v
* t
* e
* Diseases of the human eye
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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
|
Quadrantanopia
|
c0544680
| 7,189 |
wikipedia
|
https://en.wikipedia.org/wiki/Quadrantanopia
| 2021-01-18T18:45:08 |
{"mesh": ["D006423"], "icd-9": ["368.46"], "icd-10": ["H53.4"], "wikidata": ["Q2121869"]}
|
Body function in humans
Vaginal flatulence is an emission or expulsion of air from the vagina. It may occur during or after sexual intercourse or during other sexual acts, stretching or exercise. The sound is somewhat comparable to flatulence from the anus, but does not involve waste gases, and thus often does not have a specific odor associated. Slang terms for vaginal flatulence include queef,[1][2] vart, and fanny fart (mostly British).[3][4]
## More serious conditions
Vaginal gas with a strong odor of fecal matter may be a result of colovaginal fistula, a serious condition involving a tear between the vagina and colon, which can result from surgery, child birth, diseases (such as Crohn's disease), or other causes.[5] This condition can lead to urinary tract infection and other complications. Vaginal gas can also be a symptom of an internal female genital prolapse,[6] a condition most often caused by childbirth.[7]
Puffs or small amounts of air passed into the vaginal cavity during cunnilingus are not known to cause any issues. However, "forcing" or purposely blowing air at force into the vaginal cavity can cause an air embolism, which in very rare cases can be dangerous for the woman, and if pregnant, for the fetus.[8]
## References
1. ^ DeGuzman, Kristine (22 October 2008). "Why sex will always remain awkward". The Daily Californian. UWIRE.
2. ^ "Lexicon of Lust". Playgirl. December 2004.
3. ^ "fanny fart". Macquarie Dictionary Online.
4. ^ Bletchley, Rachael (28 August 2005). "Dear Rachael : Our wild sex but no hugs". The People.
5. ^ Martinez, Michael, M.D.; Dogra, Vikram, M.D. (2001). "Case Two-hundred Twenty Eight - Colovaginal Fistula". uhrad.com - Body Imaging Teaching Files. Archived from the original on June 14, 2002.
6. ^ "Correct assessment of prolapse essential". Medical Tribune. Malaysia: MediMedia Asia. 15 April 2003. Archived from the original on 29 March 2004.
7. ^ Healthwise, Incorporated (2005). "Vaginal problems and female genital prolapse".
8. ^ Wright, Janis (September 15, 2003). "Pregnancy: Prenatal Care". American Family Physician. American Academy of Family Physicians. 68 (6): 1165–1167.
Look up Wikisaurus:queef in Wiktionary, the free dictionary.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Vaginal flatulence
|
c1535974
| 7,190 |
wikipedia
|
https://en.wikipedia.org/wiki/Vaginal_flatulence
| 2021-01-18T19:05:31 |
{"wikidata": ["Q558165"]}
|
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease.
Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure.
People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.
## Frequency
Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.
## Causes
Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain.
Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.
### Learn more about the gene associated with Perry syndrome
* DCTN1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Perry syndrome
|
c1868594
| 7,191 |
medlineplus
|
https://medlineplus.gov/genetics/condition/perry-syndrome/
| 2021-01-27T08:24:55 |
{"gard": ["10453"], "mesh": ["C566822"], "omim": ["168605"], "synonyms": []}
|
Isolated congenital megalocornea affects the cornea, the part of the eye that lets in light. The symptoms of isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop by 30-50 years of age. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern. Diagnosis is made through a clinical examination and confirmed by DNA testing. Treatment is based on managing the symptoms and should include regular monitoring of eye health.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Isolated congenital megalocornea
|
c0344530
| 7,192 |
gard
|
https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea
| 2021-01-18T17:59:42 |
{"mesh": ["C562829"], "omim": ["309300"], "orphanet": ["91489"], "synonyms": ["Megalocornea", "MGCN", "MGC1", "Congenital anterior megalophthalmia"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to the development of acquired partial lipodystrophy (APLD) can be conferred in some cases by heterozygous mutation in the gene encoding the nuclear lamina protein lamin B2 (LMNB2; 150341) on chromosome 19p13.
Description
Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1).
There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913).
Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600).
Clinical Features
Early reports of this disorder include those of Barraquer (1907), Simons (1911), and Barraquer-Ferre (1935). Other early descriptions were published by Langhof and Zabel (1960) and Jeune et al. (1965).
Quecedo et al. (1996) reported 2 unrelated patients in whom partial lipodystrophy was associated with juvenile dermatomyositis. Other features in both patients included steatohepatitis, insulin resistance, and hypertrichosis. Renal function and complement levels were normal in both patients.
Ferrarini et al. (2004) reported 2 unrelated girls with Barraquer-Simons syndrome. Both had onset in late childhood of progressive loss of subcutaneous facial fat as an isolated finding. Renal function and C3 levels were normal.
Hegele et al. (2006) reported 4 unrelated patients with partial lipodystrophy without low serum C3 and without renal disease. Onset of fat loss ranged between 5 and 17 years. All had dyslipidemia, 3 had hypertension, and 3 had diabetes mellitus. One patient had evidence of autoimmune disease, manifest as dermatomyositis and alopecia. Two patients had polycystic ovary disease and hirsutism.
Gao et al. (2012) reported a 26-year-old Chinese woman with APLD. The patient had symmetric loss of subcutaneous fat from the face and upper part of the body beginning around age 14. Fat on the lower body was preserved. As a young adult, she had fatty liver, increased triglycerides, and mild metabolic disorder with increased insulin. She also developed early menopause with decreasing estrogen levels. There was no family history of a similar disorder.
Inheritance
Acquired partial lipodystrophy is not an inherited disorder in the classic mendelian sense; it rather represents a phenotype with a complex etiology (summary by Hegele et al., 2006).
Molecular Genetics
### Susceptibility Alleles
Hegele et al. (2006) used a candidate-gene approach to find disease-associated mutations in APLD. Since structural abnormalities in the LMNA gene (150330) cause familial partial lipodystrophy type 2 (151660), the authors considered it possible that there are mutations in other genes encoding related nuclear envelope proteins. They demonstrated 3 variations in the LMNB2 gene (150341.0001-150341.0003) in 4 of 9 unrelated APLD patients. These variants were more common among patients compared to controls, suggesting that they conferred susceptibility to the development of APLD. None of the patients had a family history of the disorder. Three patients had diabetes mellitus, 1 had dermatomyositis and alopecia areata, and 2 had polycystic ovary disease. All had normal C3 levels and absence of the C3 nephritic factor, and none had renal disease.
In a 26-year-old Chinese woman with APLD, Gao et al. (2012) identified a de novo heterozygous missense mutation in the LMNB2 gene (Y232H; 150341.0004). Functional studies of the variant were not performed.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Loss of subcutaneous adipose tissue from face \- Sunken face \- 'Progeroid' expression SKIN, NAILS, & HAIR Hair \- Hirsutism MUSCLE, SOFT TISSUES \- Loss of subcutaneous adipose tissue from face, progressive \- Loss of subcutaneous adipose tissue from upper limbs and trunk ENDOCRINE FEATURES \- Diabetes mellitus \- Polycystic ovary disease IMMUNOLOGY \- Association with autoimmune disease LABORATORY ABNORMALITIES \- Dyslipidemia MISCELLANEOUS \- Onset in first or second decade \- More common in females (male:female ratio 4:1) \- Variable phenotype \- No family history, de novo mutations \- Association with autoimmune diseases MOLECULAR BASIS \- Susceptibility conferred by mutation in the lamin B2 gene (LMNB2, 150341.0001 ) ▲ 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
|
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
|
c0220989
| 7,193 |
omim
|
https://www.omim.org/entry/608709
| 2019-09-22T16:07:21 |
{"mesh": ["C562448"], "omim": ["608709"], "orphanet": ["79087"], "synonyms": ["Alternative titles", "APLD, SUSCEPTIBILITY TO", "BARRAQUER-SIMONS SYNDROME", "LIPODYSTROPHY, CEPHALOTHORACIC TYPE", "LIPODYSTROPHY, PARTIAL, PROGRESSIVE"]}
|
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.
## Epidemiology
The prevalence of Autosomal dominant optic atrophy (ADOA) is variable, commonly varying between 1/10,000 in Denmark (due to a founder effect) to 1/35,000 in the UK and probably worldwide.
## Clinical description
ADOA is usually detected during the first decade of life, often by vision screening in school but later onset is possible. Visual impairment is usually moderate (visual acuity ranges from 20/80 to 20/120) but may range from mild to severe. Visual field defect is typically centrocecal, central, or paracentral. Color vision is often affected, usually but not always in the blue-yellow axis (tritanopia). Legal blindness is rare. Patients may also be asymptomatic, albeit bearing the mutation. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other severe neurological signs, that occur typically later in life, in young adults, such as myopathy, ataxia, peripheral neuropathy, chronic progressive external ophthalmoplegia (ADOA plus). Rare forms of the disease, similar to Behr syndrome have been reported with biallelic OPA1 mutations (Behr syndrome, OPA1).
## Etiology
A majority, but not all ADOA patients harbor mutations in the gene OPA1 (3q29) which codes for an inner mitochondrial membrane protein intricately involved in mitochondrial biogenesis, mitochondrial DNA replication and mitochondrial dynamics. Visual impairment is highly variable both within and between families, even when considering the same mutation.
## Diagnostic methods
ADOA is most often suspected in children with unexplained optic neuropathy, especially if associated with a similar family history (which may nevertheless be absent in 50% of cases). Fundus examination typically reveals bilateral and symmetrical pallor of the temporal side of the optic nerve head, pallor of the optic nerve rim and a temporal grey crescent, sometimes associated with abnormal optic disc cupping. Visual evoked potentials (VEP) are usually delayed and pattern electroretinogram shows an abnormal N95:P50 ratio, with reduction in the amplitude of the N95 waveform suggesting alterations of the retinal ganglion cells layer. Optical Coherence Tomography (OCT) discloses a global reduction of the peripapillary retinal nerve fiber layer thickness, mainly in the infero-temporal quadrant. The rest of the retinal is tipically normal. The diagnosis is confirmed by the genetic screening of OPA1.
## Differential diagnosis
Differential diagnosis includes all the common causes of optic neuropathies: compressive, inflammatory, ischemic, toxic and metabolic causes. Other hereditary optic neuropathies such as Leber's hereditary optic neuropathy, Wolfram syndrome have different initial presentations (later onset, associated or not with other neurological or systemic signs), but the final clinical phenotype of optic neuropathy is not specific. Other genes involved in isolated or syndromic forms autosomal dominant optic atrophy are : ACO2, SPG7, AFG3L2, MFN2, OPA3, DRP1, and SSBP1.
## Antenatal diagnosis
Prenatal identification of a mutation may be proposed in families with previously known mutations, with the understanding that not all the carriers will manifest the disease.
## Genetic counseling
Transmission is autosomal dominant with a penetrance of 50%.
## Management and treatment
There are currently no efficient treatments in ADOA. Low-vision aids may be recommended in patients with severely decreased visual acuity. Tobacco use, excessive alcohol intake and medications that may have mitochondrial toxicity should be avoided.
## Prognosis
Visual impairment in ADOA is classically irreversible ; spontaneous recovery has been only exceptionally reported. Visual loss is usually mild, but can at times worsen later during lifetime. ADOA does not affect intellectual development or life span. Patients may have normal familial and social life although vocational integration may at times be problematic.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing 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 optic atrophy, classic form
|
c0338508
| 7,194 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98673
| 2021-01-23T18:29:52 |
{"gard": ["9890"], "mesh": ["D029241"], "omim": ["165500", "605293", "610708"], "icd-10": ["H47.2"], "synonyms": ["Autosomal dominant optic atrophy, Kjer type", "Kjer optic atrophy", "Optic atrophy type 1"]}
|
Glomangiosarcoma
SpecialtyDermatology
Glomangiosarcoma is a low grade[1] tumor of the soft tissue. They rarely metastasize,[2] but metastases are possible.[3] It is also known as "malignant glomus tumor".[4] Positive staining for vimentin has been reported.[5]
## See also[edit]
* angiosarcoma
* Glomus tumor#Malignant glomus tumors
## References[edit]
1. ^ Pérez de la Fuente T, Vega C, Gutierrez Palacios A, Sanchez Lorenzo J, Gonzalez Sarasua J (2005). "Glomangiosarcoma of the hypothenar eminence: a case report". Chirurgie de la Main. 24 (3–4): 199–202. doi:10.1016/j.main.2005.06.006. PMID 16121631.
2. ^ Park JH, Oh SH, Yang MH, Kim NI (November 2003). "Glomangiosarcoma of the hand: a case report and review of the literature". The Journal of Dermatology. 30 (11): 827–33. doi:10.1111/j.1346-8138.2003.tb00486.x. PMID 14684942. Archived from the original on 2011-07-22. Retrieved 2008-10-17.
3. ^ Watanabe K, Sugino T, Saito A, Kusakabe T, Suzuki T (December 1998). "Glomangiosarcoma of the hip: report of a highly aggressive tumour with widespread distant metastases". British Journal of Dermatology. 139 (6): 1097–101. doi:10.1046/j.1365-2133.1998.02574.x. PMID 9990381.
4. ^ Kayal JD, Hampton RW, Sheehan DJ, Washington CV (September 2001). "Malignant glomus tumor: a case report and review of the literature". Dermatologic Surgery. 27 (9): 837–40. doi:10.1097/00042728-200109000-00011. PMID 11553174.
5. ^ Hiruta N, Kameda N, Tokudome T, et al. (September 1997). "Malignant glomus tumor: a case report and review of the literature". The American Journal of Surgical Pathology. 21 (9): 1096–103. doi:10.1097/00000478-199709000-00015. PMID 9298887.
## External links[edit]
Classification
D
* ICD-O: 8710/3
This Dermal and subcutaneous growths 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
|
Glomangiosarcoma
|
c1266111
| 7,195 |
wikipedia
|
https://en.wikipedia.org/wiki/Glomangiosarcoma
| 2021-01-18T18:31:47 |
{"umls": ["C1266111"], "wikidata": ["Q5571213"]}
|
medical condition in dogs
Ununited anconeal process
Elbow dysplasia is a condition involving multiple developmental abnormalities of the elbow-joint in the dog, specifically the growth of cartilage or the structures surrounding it. These abnormalities, known as 'primary lesions', give rise to osteoarthritic processes.[1] Elbow dysplasia is a common condition of certain breeds of dogs.
Most primary lesions are related to osteochondrosis, a disease of the joint cartilage, and osteochondritis dissecans (OCD), the separation of a flap of cartilage on the joint surface. Other common causes of elbow dysplasia include an ununited anconeal process (UAP) and fragmented or ununited medial coronoid process (FCP or FMCP).[1]
Osteochondritis dissecans is difficult to diagnose clinically as the animal may only exhibit an unusual gait. Consequently, OCD may be masked by, or misdiagnosed as, other skeletal and joint conditions such as hip dysplasia.[2] The problem develops in puppyhood, although often is subclinical, and there may be pain or stiffness, discomfort on extension, or other compensating characteristics.[2] Diagnosis generally depends on X-rays, arthroscopy, or MRI scans.[2] While cases of OCD of the stifle go undetected and heal spontaneously, others are exhibited in acute lameness.[2] Surgery is recommended once the animal has been deemed lame; otherwise, non-surgical control is usually used.[2]
## Contents
* 1 The disease
* 2 Causes
* 3 Diagnosis and treatment
* 3.1 Non-surgical treatment
* 3.2 Total elbow replacement
* 4 Grading for breeding purposes
* 5 References
## The disease[edit]
Elbow dysplasia is a significant genetically determined problem in many breeds of dog, often manifesting from puppyhood and continuing for life.[1] In elbow dysplasia, the complex elbow joint suffers from a structural defect, often related to its cartilage.[1] This initial condition, known as a "primary lesion",[1] causes an abnormal level of wear and tear and gradual degradation of the joint, at times disabling or with chronic pain. Secondary processes such as inflammation and osteoarthritis can arise from this damage[1] which increase the problem and add further problems of their own.
## Causes[edit]
Human femur head showing a flap of cartilage (osteochondritis dissecans) due to avascular necrosis. Similar cartilage damage in dogs causes wear in the joint leading to osteoarthritic processes and is a common cause of elbow dysplasia.
The most common cause is osteochondrosis, which is a disease of the joint cartilage, and osteochondritis dissecans (OCD or OD), the separation of a flap of cartilage from the joint surface[1] as a result of avascular necrosis, which in turn arises from failed blood flow in the subchondral bone.[3]
In OCD, the normal change of cartilage to bone in the development of the joint fails or is delayed. The cartilage continues to grow and may split or become necrotic. The cause is uncertain, but possibly includes genetics, trauma, and nutrition (including excessive calcium and decreased vitamin C intake).[4] OCD lesions found in the elbow at the medial epicondyle of the humerus are caused by disturbed endochondral fusion of the epiphysis of the medial epicondyle with the distal end of the humerus, which may in turn be caused by avulsion of the epiphysis.[5] Specific conditions related to OCD include fragmentation of the medial coronoid process of the ulna (FMCP) and an ununited anconeal process of the ulna (UAP). All types of OCD of the elbow are most typically found in large breed dogs, with symptoms starting between the ages of 4 to 8 months.[4] Males are affected twice as often as females. The disease often affects both elbows (30 to 70 percent of the time), and symptoms include intermittent lameness, joint swelling, and external rotation and abduction of the paw.[6] Osteoarthritis will develop later in most cases.
UAP is caused by a separation from the ulna of the ossification center of the anconeal process.[7] FMCP is caused by a failure of the coronoid process to unite with the ulna.
## Diagnosis and treatment[edit]
Diagnosis is through x-rays, arthroscopy or CT (computed tomography). In cases with significant lameness, surgery is the best option, especially with UAP. However, conservative treatment is often enough for cases of FMCP and OCD of the medial humeral epicondyle. The dogs are exercised regularly and given pain medication, and between the ages of 12 to 18 months the lameness will often improve or disappear.[4] Control of body weight is important in all cases of elbow dysplasia, and prevention of quick growth spurts in puppies may help to prevent the disease.
Surgery for FMCP consists of removal of cartilage and bone fragments and correction of any incongruity of the joint. Reattachment of UAP with a screw is usually attempted before the age of 24 weeks, and after that age the typical treatment is removal of the UAP.[8] Without surgery, UAP rapidly progresses to osteoarthritis, but with FMCP osteoarthritis typically occurs with or without surgery. Osteoarthritis is also a common sequela of OCD of the humerus despite medical or surgical treatment.[8] Elbow replacement surgery has been developed and can be an option for treatment.[9]
Fragmentation of the medial coronoid process
### Non-surgical treatment[edit]
Conservative therapies include NSAIDs, pain medication, weight management and exercise restrictions.[10]
### Total elbow replacement[edit]
The elbow is a complex joint, bears 60% of body load, and tolerates problems less well than the hips.[11] As a result, elbow replacement is more complex than hip replacement, rehabilitation can take significantly longer, and some degree of lameness will remain.[11] The surgery is classified as of 2010 as a "salvage" operation - that is, a last resort for an otherwise viable animal.[12] Success rates of around 80 - 85% (approximately 5 in 6) were being discussed by sources in 2005[11] and again in 2008.[13]
There are also fewer options if the replacement fails; arthrodesis (surgical fusion of the joint) can result in a pain-free but lame gait.[11] However, arthrodesis is itself a complex surgery with a long recovery time,[11] and if arthrodesis is required, additional strain will be borne by other nearby joints, so other leg and shoulder conditions such as osteoarthritis may become more significant.[11]
## Grading for breeding purposes[edit]
The Orthopedic Foundation for Animals in the United States will grade elbow X-rays of dogs intended for breeding.
## References[edit]
1. ^ a b c d e f g Quoted from: Matthew Pead; Sue Guthrie. "Elbow Dysplasia in dogs - a new scheme explained" (PDF). British Veterinary Association (BVA). Archived from the original (PDF) on 2011-10-02. Retrieved 2010-07-16.
2. ^ a b c d e Lenehan TM, Van Sickle DC (1985). "Chapter 84: Canine osteochondrosis". In Nunamaker DM, Newton CD (eds.). Textbook of small animal orthopaedics. Philadelphia: Lippincott. ISBN 0-397-52098-0.
3. ^ Shiel WC Jr. "Definition of Osteochondritis dissecans". MedicineNet, Inc. Retrieved 2009-02-20.
4. ^ a b c Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 0-7216-6795-3.
5. ^ "Elbow Dysplasia". The Merck Veterinary Manual. 2006. Retrieved 2007-02-04.
6. ^ Hazewinkel, H.A.W. (2003). "Elbow Dysplasia; Clinical Aspects and Screening Programs". Proceedings of the 28th World Congress of the World Small Animal Veterinary Association. Retrieved 2006-08-24.
7. ^ "Ununited Anoconeal Process". Fitzpatrick Referrals. 2014. Retrieved 2014-01-14.
8. ^ a b Demko J, McLaughlin R (2005). "Developmental orthopedic disease". Vet Clin North Am Small Anim Pract. 35 (5): 1111–35, v. doi:10.1016/j.cvsm.2005.05.002. PMID 16129135.
9. ^ Total Elbow Replacement, canine and feline (cat and dog) veterinary factsheets
10. ^ http://www.asgvets.com/rdvms/innovations/
11. ^ a b c d e f Brown; Gilbert; Broome (November 2005). "Total Elbow Replacement in Dogs" (PDF). Grove Orthopaedic Referrals. Archived from the original (PDF) on 2012-03-09. Retrieved 2010-07-17.
12. ^ "Elbow dysplasia 2 / OC and OCD". Fitzpatrick referrals. Retrieved 2014-01-14.
13. ^ "Total Elbow Replacement". University of Minnesota Veterinary Clinical Sciences dept. Retrieved 2010-07-17.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Elbow dysplasia
|
c3665589
| 7,196 |
wikipedia
|
https://en.wikipedia.org/wiki/Elbow_dysplasia
| 2021-01-18T18:52:00 |
{"wikidata": ["Q678183"]}
|
A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have 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
|
Double-orifice mitral valve
|
c0344770
| 7,197 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95474
| 2021-01-23T17:53:56 |
{"umls": ["C0344770"], "icd-10": ["Q23.8"]}
|
Liver damage caused by a drug or chemical
Hepatotoxicity
Other namesToxic liver disease, toxin-induced liver disease, drug-induced liver disease, drug-induced liver damage, drug-induced liver injury, hepatogenous poisoning
Drug-induced hepatitis with granulomata. Other causes were excluded with extensive investigations. Liver biopsy. H&E stain.
SpecialtyGastroenterology
ComplicationsCirrhosis, liver failure
Subordinate terms
Toxic hepatitis
Toxin-induced hepatitis
Drug-induced hepatitis
Drug-induced hepatic necrosis
Drug-induced hepatic fibrosis
Drug-induced hepatic granuloma
Toxic liver disease with hepatitis
Toxic liver disease with cholestasis
Hepatotoxicity (from hepatic toxicity) implies chemical-driven liver damage. Drug-induced liver injury is a cause of acute and chronic liver disease caused specifically by medications.
The liver plays a central role in transforming and clearing chemicals and is susceptible to the toxicity from these agents. Certain medicinal agents, when taken in overdoses (e.g. paracetamol) and sometimes even when introduced within therapeutic ranges (e.g. halothane), may injure the organ. Other chemical agents, such as those used in laboratories and industries, natural chemicals (e.g., microcystins), and herbal remedies (two prominent examples being kava, mechanism unknown, and comfrey, through its pyrrolizidine alkaloid content) can also induce hepatotoxicity. Chemicals that cause liver injury are called hepatotoxins.
More than 900 drugs have been implicated in causing liver injury[1] (see LiverTox, external link, below) and it is the most common reason for a drug to be withdrawn from the market. Hepatotoxicity and drug-induced liver injury also account for a substantial number of compound failures, highlighting the need for toxicity prediction models (e.g. DTI),[2] and drug screening assays, such as stem cell-derived hepatocyte-like cells, that are capable of detecting toxicity early in the drug development process.[3] Chemicals often cause subclinical injury to the liver, which manifests only as abnormal liver enzyme tests.
Drug-induced liver injury is responsible for 5% of all hospital admissions and 50% of all acute liver failures.[4][5]
## Contents
* 1 Cause
* 1.1 Acetaminophen (Paracetamol)
* 1.2 Nonsteroidal anti-inflammatory drugs
* 1.3 Glucocorticoids
* 1.4 Isoniazid
* 1.5 Other hydrazine derivative drugs
* 1.6 Natural products
* 1.7 Industrial toxin
* 1.8 Alternative remedies
* 2 Mechanism
* 2.1 Drug metabolism in liver
* 2.2 Patterns of injury
* 2.2.1 Zonal Necrosis
* 2.2.2 Hepatitis
* 2.2.3 Cholestasis
* 2.2.4 Steatosis
* 2.2.5 Granuloma
* 2.2.6 Vascular lesions
* 2.2.7 Neoplasm
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Drugs withdrawn
* 7 See also
* 8 References
* 9 External links
## Cause[edit]
Adverse drug reactions are classified as type A (intrinsic or pharmacological) or type B (idiosyncratic).[6] Type A drug reaction accounts for 80% of all toxicities.[7]
Drugs or toxins that have a pharmacological (type A) hepatotoxicity are those that have predictable dose-response curves (higher concentrations cause more liver damage) and well characterized mechanisms of toxicity, such as directly damaging liver tissue or blocking a metabolic process. As in the case of acetaminophen overdose, this type of injury occurs shortly after some threshold for toxicity is reached. Carbon tetrachloride is commonly used to induce acute type A liver injury in animal models.
Idiosyncratic (type B) injury occurs without warning, when agents cause non-predictable hepatotoxicity in susceptible individuals, which is not related to dose and has a variable latency period.[8] This type of injury does not have a clear dose-response nor temporal relationship, and most often does not have predictive models. Idiosyncratic hepatotoxicity has led to the withdrawal of several drugs from market even after rigorous clinical testing as part of the FDA approval process; Troglitazone (Rezulin)[9][10] and trovafloxacin (Trovan) are two prime examples of idiosyncratic hepatotoxins pulled from market.
The herb kava has caused a number of cases of idiosyncratic liver injury, ranging everywhere from asymptomatic to fatal.
Oral use of ketoconazole has been associated with hepatic toxicity, including some fatalities;[11] however, such effects appear to be limited to doses taken over a period longer than 7 days.[12]
### Acetaminophen (Paracetamol)[edit]
Main article: Acetaminophen toxicity
Acetaminophen (3D structure) overdose is the most common cause of drug-induced liver disease
Acetaminophen (in the US and Japan), paracetamol (INN), also known by the brand name Tylenol and Panadol, is usually well tolerated in prescribed dose, but overdose is the most common cause of drug-induced liver disease and acute liver failure worldwide.[13] Damage to the liver is not due to the drug itself but to a toxic metabolite (N-acetyl-p-benzoquinone imine (NAPQI)) produced by cytochrome P-450 enzymes in the liver.[14] In normal circumstances, this metabolite is detoxified by conjugating with glutathione in phase 2 reaction. In an overdose, a large amount of NAPQI is generated, which overwhelms the detoxification process and leads to liver cell damage. Nitric oxide also plays a role in inducing toxicity.[15] The risk of liver injury is influenced by several factors including the dose ingested, concurrent alcohol or other drug intake, interval between ingestion and antidote, etc. The dose toxic to the liver is quite variable from person to person and is often thought to be lower in chronic alcoholics.[16][17] Measurement of blood level is important in assessing prognosis, higher levels predicting a worse prognosis. Administration of Acetylcysteine, a precursor of glutathione, can limit the severity of the liver damage by capturing the toxic NAPQI. Those that develop acute liver failure can still recover spontaneously, but may require transplantation if poor prognostic signs such as encephalopathy or coagulopathy is present (see King's College Criteria).
### Nonsteroidal anti-inflammatory drugs[edit]
Although individual analgesics rarely induce liver damage due to their widespread use, NSAIDs have emerged as a major group of drugs exhibiting hepatotoxicity. Both dose-dependent and idiosyncratic reactions have been documented.[18] Aspirin and phenylbutazone are associated with intrinsic hepatotoxicity; idiosyncratic reaction has been associated with ibuprofen, sulindac, phenylbutazone, piroxicam, diclofenac and indomethacin.
### Glucocorticoids[edit]
Glucocorticoids are so named due to their effect on the carbohydrate mechanism. They promote glycogen storage in the liver. An enlarged liver is a rare side-effect of long-term steroid use in children.[19] The classical effect of prolonged use both in adult and paediatric population is steatosis.[20]
### Isoniazid[edit]
Isoniazide (INH) is one of the most commonly used drugs for tuberculosis; it is associated with mild elevation of liver enzymes in up to 20% of patients and severe hepatotoxicity in 1-2% of patients.[21]
### Other hydrazine derivative drugs[edit]
There are also cases where other hydrazine derivative drugs, such as the MAOI antidepressant iproniazid, are associated with liver damage.[22][23] Phenelzine has been associated with abnormal liver tests.[24] Toxic effects can develop from antibiotics.[25]
### Natural products[edit]
Examples include many amanita mushrooms (particularly the destroying angels), kava, and aflatoxins.[citation needed] Pyrrolizidine alkaloids, which occur in some plants, can be toxic.[26][27] Green tea extract is a growing cause of liver failure due to its inclusion in more products.[28][29][30]
### Industrial toxin[edit]
Examples include arsenic, carbon tetrachloride, and vinyl chloride.[31]
### Alternative remedies[edit]
Ackee fruit
Examples include: Ackee fruit, Bajiaolian, Camphor, Copaltra, Cycasin, Garcinia,[32] Kava leaves, pyrrolizidine alkaloids, Horse chestnut leaves, Valerian, Comfrey.[33][34] Chinese herbal remedies: Jin Bu Huan, Ma-huang, Shou Wu Pian, Bai Xian Pi.[35][36]
## Mechanism[edit]
Factors influencing
drug-induced hepatotoxicity[13]
* Age
* Ethnicity and race
* Gender
* Nutritional status
* Underlying liver disease
* Renal function
* Pregnancy
* Duration and dosage of drug
* Enzyme induction
* Drug-to-drug interaction
Drugs continue to be taken off the market due to late discovery of hepatotoxicity. Due to its unique metabolism and close relationship with the gastrointestinal tract, the liver is susceptible to injury from drugs and other substances. 75% of blood coming to the liver arrives directly from gastrointestinal organs and the spleen via portal veins that bring drugs and xenobiotics in near-undiluted form. Several mechanisms are responsible for either inducing hepatic injury or worsening the damage process. Many chemicals damage mitochondria, an intracellular organelle that produces energy. Its dysfunction releases excessive amount of oxidants that, in turn, injure hepatic cells. Activation of some enzymes in the cytochrome P-450 system such as CYP2E1 also lead to oxidative stress.[37] Injury to hepatocyte and bile duct cells lead to accumulation of bile acid inside the liver. This promotes further liver damage.[38] Non-parenchymal cells such as Kupffer cells, fat storing stellate cells, and leukocytes (i.e. neutrophil and monocyte) also have a role in the mechanism.
### Drug metabolism in liver[edit]
Drug metabolism in liver: transferases are : glutathione, sulfate, acetate, glucoronic acid. P-450 is cytochrome P-450 enzymes. 3 different pathways are depicted for Drugs A, B and C.
The human body identifies almost all drugs as foreign substances (i.e. xenobiotics) and subjects them to various chemical processes (i.e. metabolism) to make them suitable for elimination. This involves chemical transformations to (a) reduce fat solubility and (b) to change biological activity. Although almost all tissues in the body have some ability to metabolize chemicals, smooth endoplasmic reticulum in the liver is the principal "metabolic clearing house" for both endogenous chemicals (e.g., cholesterol, steroid hormones, fatty acids, proteins) and exogenous substances (e.g., drugs, alcohol).[39] The central role played by liver in the clearance and transformation of chemicals makes it susceptible to drug-induced injury.
Drug metabolism is usually divided into two phases: phase 1 and phase 2. Phase 1 reaction is thought to prepare a drug for phase 2. However many compounds can be metabolized by phase 2 directly. Phase 1 reaction involves oxidation, reduction, hydrolysis, hydration and many other rare chemical reactions. These processes tend to increase water solubility of the drug and can generate metabolites that are more chemically active and potentially toxic. Most of phase 2 reactions take place in cytosol and involve conjugation with endogenous compounds via transferase enzymes. Chemically active phase 1 products are rendered relatively inert and suitable for elimination by this step.
A group of enzymes located in the endoplasmic reticulum, known as cytochrome P-450, is the most important family of metabolizing enzymes in the liver. Cytochrome P-450 is the terminal oxidase component of an electron transport chain. It is not a single enzyme, but rather consists of a closely related family of 50 isoforms; six of them metabolize 90% of drugs.[40][41] There is a tremendous diversity of individual P-450 gene products, and this heterogeneity allows the liver to perform oxidation on a vast array of chemicals (including almost all drugs) in phase 1. Three important characteristics of the P-450 system have roles in drug-induced toxicity:
1\. Genetic diversity:
Each of the P-450 proteins is unique and accounts (to some extent) for the variation in drug metabolism between individuals. Genetic variations (polymorphism) in P-450 metabolism should be considered when patients exhibit unusual sensitivity or resistance to drug effects at normal doses. Such polymorphism is also responsible for variable drug response among patients of differing ethnic backgrounds.
Cytochrome P-450 enzyme induction and inhibition[41][42][43] Potent inducers Potent inhibitors Substrates
Rifampicin, Carbamazepine,
Phenobarbital, Phenytoin,
(St John's wort), Amiodarone, cimetidine,
ciprofloxacin, fluconazole,
fluoxetine, erythromycin,
isoniazid, diltiazem Caffeine, clozapine,
omeprazole, losartan,
theophylline
2\. Change in enzyme activity:
Many substances can influence the P-450 enzyme mechanism. Drugs interact with the enzyme family in several ways.[44] Drugs that modify cytochrome P-450 enzyme are referred to as either inhibitors or inducers. Enzyme inhibitors block the metabolic activity of one or several P-450 enzymes. This effect usually occurs immediately. On the other hand, inducers increase P-450 activity by increasing its synthesis. Depending on the inducing drug's half life, there is usually a delay before enzyme activity increases.[41]
3\. Competitive inhibition:
Some drugs may share the same P-450 specificity and thus competitively block their bio transformation. This may lead to accumulation of drugs metabolized by the enzyme. This type of drug interaction may also reduce the rate of generation of toxic substrate.
### Patterns of injury[edit]
Patterns of drug-induced liver disease Type of injury: Hepatocellular Cholestatic Mixed
ALT ≥ Twofold rise Normal ≥ Twofold rise
ALP Normal ≥ Twofold rise ≥ Twofold rise
ALT: ALP ratio High, ≥5 Low, ≤2 2–5
Examples[45] Acetaminophen
Allopurinol
Amiodarone
HAART
NSAID Anabolic steroid
Chlorpromazine
Clopidogrel
Erythromycin
Hormonal contraception Amitriptyline,
Enalapril
Carbamazepine
Sulfonamide
Phenytoin
Chemicals produce a wide variety of clinical and pathological hepatic injury. Biochemical markers (e.g. alanine transferase, alkaline phosphatase and bilirubin) are often used to indicate liver damage. Liver injury is defined as a rise in either (a) ALT level more than three times of upper limit of normal (ULN), (b) ALP level more than twice ULN, or (c) total bilirubin level more than twice ULN when associated with increased ALT or ALP.[45][46] Liver damage is further characterized into hepatocellular (predominantly initial Alanine transferase elevation) and cholestatic (initial alkaline phosphatase rise) types. However they are not mutually exclusive and mixed types of injuries are often encountered.
Specific histo-pathological patterns of liver injury from drug-induced damage are discussed below.
#### Zonal Necrosis[edit]
This is the most common type of drug-induced liver cell necrosis where the injury is largely confined to a particular zone of the liver lobule. It may manifest as a very high level of ALT and severe disturbance of liver function leading to acute liver failure.
Causes include:
Paracetamol, carbon tetrachloride
#### Hepatitis[edit]
In this pattern, hepatocellular necrosis is associated with infiltration of inflammatory cells. There can be three types of drug-induced hepatitis. (A) viral hepatitis is the most common, where histological features are similar to acute viral hepatitis. (B) in focal or non-specific hepatitis, scattered foci of cell necrosis may accompany lymphocytic infiltration. (C) chronic hepatitis is very similar to autoimmune hepatitis clinically, serologically, and histologically.
Causes:
(a) Viral hepatitis: Halothane, isoniazid, phenytoin
(b) Focal hepatitis: Aspirin
(c) Chronic hepatitis: Methyldopa, diclofenac
#### Cholestasis[edit]
Liver injury leads to impairment of bile flow and cases are predominated by itching and jaundice. Histology may show inflammation (cholestatic hepatitis) or it can be bland (without any parenchymal inflammation). On rare occasions, it can produce features similar to primary biliary cirrhosis due to progressive destruction of small bile ducts (vanishing duct syndrome).
Causes:
(a) Bland: Oral contraceptive pills, anabolic steroid, androgens
(b) Inflammatory: Allopurinol, co-amoxiclav, carbamazepine
(c) Ductal: Chlorpromazine, flucloxacillin
#### Steatosis[edit]
Hepatotoxicity may manifest as triglyceride accumulation, which leads to either small-droplet (microvesicular) or large-droplet (macrovesicular) fatty liver. There is a separate type of steatosis by which phospholipid accumulation leads to a pattern similar to the diseases with inherited phospholipid metabolism defects (e.g., Tay–Sachs disease)
Causes:
(a) Microvesicular: Aspirin (Reye's syndrome), ketoprofen, tetracycline (especially if expired)
(b) Macrovesicular: Acetaminophen, methotrexate
(c) Phospholipidosis: Amiodarone, total parenteral nutrition
(d) Antiviral: nucleoside analogues
(e) Corticosteroid
(f) Hormonal: Tamoxifen
#### Granuloma[edit]
Drug-induced hepatic granulomas are usually associated with granulomas in other tissues and patients typically have features of systemic vasculitis and hypersensitivity. More than 50 drugs have been implicated.
Causes:
Allopurinol, phenytoin, isoniazid, quinine, penicillin, quinidine
#### Vascular lesions[edit]
These result from injury to the vascular endothelium.
Causes:
Venoocclusive disease: Chemotherapeutic agents, bush tea
Peliosis hepatis: Anabolic steroids
Hepatic vein thrombosis: Oral contraceptives
#### Neoplasm[edit]
Neoplasms have been described with prolonged exposure to some medications or toxins. Hepatocellular carcinoma, angiosarcoma, and liver adenomas are the ones usually reported.
Causes:
Vinyl chloride, combined oral contraceptive pill, anabolic steroid, arsenic, thorotrast
## Diagnosis[edit]
Algorithm for suspected drug-induced hepatic toxicity
This remains a challenge in clinical practice due to a lack of reliable markers.[47] Many other conditions lead to similar clinical as well as pathological pictures. To diagnose hepatotoxicity, a causal relationship between the use of the toxin or drug and subsequent liver damage has to be established, but might be difficult, especially when idiosyncratic reaction is suspected.[48] Simultaneous use of multiple drugs may add to the complexity. As in acetaminophen toxicity, well established, dose-dependent, pharmacological hepatotoxicity is easier to spot. Several clinical scales such as CIOMS/RUCAM scale and Maria and Victorino criteria have been proposed to establish causal relationship between offending drug and liver damage. CIOMS/RUCAM scale involves a scoring system that categorizes the suspicion into "definite or highly probable" (score > 8), "probable" (score 6–8), "possible" (score 3–5), "unlikely" (score 1–2) and "excluded" (score ≤ 0). In clinical practice, physicians put more emphasis on the presence or absence of similarity between the biochemical profile of the patient and known biochemical profile of the suspected toxicity (e.g., cholestatic damage in amoxycillin-clauvonic acid ).[47]
## Treatment[edit]
In most cases, liver function will return to normal if the offending drug is stopped early. Additionally, the patient may require supportive treatment. In acetaminophen toxicity, however, the initial insult can be fatal. Fulminant hepatic failure from drug-induced hepatotoxicity may require liver transplantation. In the past, glucocorticoids in allergic features and ursodeoxycholic acid in cholestatic cases had been used, but there is no good evidence to support their effectiveness.
## Prognosis[edit]
An elevation in serum bilirubin level of more than 2 times ULN with associated transaminase rise is an ominous sign. This indicates severe hepatotoxicity and is likely to lead to mortality in 10% to 15% of patients, especially if the offending drug is not stopped (Hy's Law).[49][50] This is because it requires significant damage to the liver to impair bilirubin excretion, hence minor impairment (in the absence of biliary obstruction or Gilbert syndrome) would not lead to jaundice. Other poor predictors of outcome are old age, female sex, high AST.[51][52]
## Drugs withdrawn[edit]
The following therapeutic drugs were withdrawn from the market primarily because of hepatotoxicity: Troglitazone, bromfenac, trovafloxacin, ebrotidine, nimesulide, nefazodone, ximelagatran and pemoline.[47][53][54]
## See also[edit]
* Hepatoprotection
* Reye's syndrome
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## External links[edit]
Classification
D
* ICD-10: K71.0
* MeSH: D056486
* LiverTox at the United States National Library of Medicine
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Hepatotoxicity
|
c1262760
| 7,198 |
wikipedia
|
https://en.wikipedia.org/wiki/Hepatotoxicity
| 2021-01-18T18:46:18 |
{"mesh": ["D056486"], "wikidata": ["Q1349821"]}
|
Diogenes syndrome
Other namesSenile squalor syndrome
Room crammed with garbage
SpecialtyPsychology, psychiatry
Diogenes syndrome, also known as senile squalor syndrome, is a disorder characterized by extreme self-neglect, domestic squalor, social withdrawal, apathy, compulsive hoarding of garbage or animals, plus lack of shame. Sufferers may also display symptoms of catatonia.[1][2]
The condition was first recognized in 1966[3] and designated Diogenes syndrome by Clark et al.[4] The name derives from Diogenes of Sinope, an ancient Greek philosopher, a Cynic and an ultimate minimalist, who allegedly lived in a large jar in Athens. Not only did he not hoard, but he actually sought human company by venturing daily to the Agora. Therefore, this eponym is considered to be a misnomer.[5][6][7] Other possible terms are senile breakdown, Plyushkin's Syndrome (after the Gogol character),[5] social breakdown and senile squalor syndrome.[8] Frontal lobe impairment may play a part in the causation (Orrell et al., 1989).[9]
## Contents
* 1 Presentation
* 2 Diagnosis
* 3 Management
* 4 History
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Presentation[edit]
Diogenes syndrome is a disorder that involves hoarding of rubbish and severe self-neglect. In addition, the syndrome is characterized by domestic squalor, syllogomania, social alienation, and refusal of help. It has been shown that the syndrome is caused as a reaction to stress that was experienced by the patient. The time span in which the syndrome develops is undefined, though it is most accurately distinguished as a reaction to stress that occurs late in life.[10][11]
In most instances, patients were observed to have an abnormal possessiveness and patterns of compilation in a disordered manner. These symptoms suggest damage to the prefrontal areas of the brain, due to its relation to decision making. In contrast, there have also been cases where the hoarded objects were arranged in a methodical manner, which may suggest a cause other than brain damage.
Although most patients have been observed to come from homes with poor conditions, and many had been faced with poverty for a long period of time, these similarities are not considered a definite cause to the syndrome. Research showed that some of the participants with the condition had solid family backgrounds as well as successful professional lives. Half of the patients were of higher intelligence level.[12] This indicates the Diogenes syndrome does not exclusively affect those experiencing poverty or those who had traumatic childhood experiences.
The severe neglect that they bring on themselves usually results in physical collapse or mental breakdown. Most individuals who suffer from the syndrome do not get identified until they face this stage of collapse, due to their predilection to refuse help from others.[4]
The patients are generally highly intelligent, and the personality traits that can be seen frequently in patients diagnosed with Diogenes syndrome are aggressiveness, stubbornness, suspicion of others, unpredictable mood swings, emotional instability and deformed perception of reality.[11] Secondary DS is related to mental disorders.[11] The direct relation of the patients' personalities to the syndrome is unclear, though the similarities in character suggest potential avenues for investigation.[11]
## Diagnosis[edit]
Individuals suffering from Diogenes syndrome generally display signs of collectionism, hoarding, or compulsive disorder. Individuals who have suffered damage to the brain, particularly the frontal lobe, may be at more risk to developing the syndrome. The frontal lobes are of particular interest, because they are known to be involved in higher order cognitive processes, such as reasoning, decision-making and conflict monitoring. Diogenes Syndrome tends to occur among the elderly. The behavioural patterns that is usually reflected by those living with this disorder are suffering from significant functional problem that is correlated with morbidity and mortality.[13]
## Management[edit]
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It is ethically difficult when it comes to dealing with diagnosed patients, for many of them deny their poor conditions and refuse to accept treatment. The main objectives of the doctors are to help improve the patient’s lifestyle and wellbeing, so health care professionals must decide whether or not to force treatment onto their patient.
In some cases, especially those including the inability to move, patients have to consent to help, since they cannot manage to look after themselves. Hospitals or nursing homes are often considered the best treatment under those conditions.
When under care, patients must be treated in a way in which they can learn to trust the health care professionals. In order to do this, the patients should be restricted in the number of visitors they are allowed, and be limited to 1 nurse or social worker. Some patients respond better to psychotherapy, while others to behavioral treatment or terminal care.[11]
Results after hospitalization tend to be poor. Research on the mortality rate during hospitalization has shown that approximately half the patients die while in the hospital. A quarter of the patients are sent back home, while the other quarter are placed in long-term residential care. Patients under care in hospitals and nursing homes often slide back into relapse or face death.
There are other approaches to improve the patient’s condition. Day care facilities have often been successful with maturing the patient’s physical and emotional state, as well as helping them with socialization. Other methods include services inside the patient’s home, such as the delivery of food.[11]
## History[edit]
The origin of the syndrome is unknown, although the term “Diogenes” was coined by A. N. G. Clarke et al. in the mid‑1970s and has been commonly used since then. Diogenes syndrome was acknowledged more prominently as a media phenomenon in popular media rather than medical literature. The primary description of this syndrome has only been mentioned recently by geriatricians and psychiatrists.[3][4]
## See also[edit]
* Self-neglect
* Compulsive hoarding
* Borderline personality disorder
* Obsessive-compulsive disorder
## References[edit]
1. ^ Cybulska, E; Rucinski, J (1986). "Gross Self-neglect in Old Age". Br J Hosp Med. 36 (1): 21–23. PMID 3535960.
2. ^ Rosenthal, M; Stelian, J; Wagner, J; Berkman, P (1999). "Diogenes syndrome and hoarding in the elderly: case reports". The Israel Journal of Psychiatry and Related Sciences. 36 (1): 29–34. PMID 10389361.
3. ^ a b Macmillan, D; Shaw, P. (1966). "Senile breakdown in standards of personal and environmental cleanliness". BMJ. 2 (5521): 1032–7. doi:10.1136/bmj.2.5521.1032. PMC 1944569. PMID 5919035.
4. ^ a b c Clark, AN; Mankikar, GD; Gray, I (1975). "Diogenes syndrome A clinical study of gross neglect in old age". Lancet. 1 (7903): 366–368. doi:10.1016/S0140-6736(75)91280-5. PMID 46514.
5. ^ a b Cybulska, E (1998). "Senile Squalor: Plyushkin's not Diogenes Syndrome". Psychiatric Bulletin. 22 (5): 319–320. doi:10.1192/pb.22.5.319.
6. ^ (01-28-2006) by Alicia M. Canto, in: "Uso y abuso de Diógenes"
7. ^ Marcos, M; Gomez-Pellin, MC. (2008). "A tale of a misnamed eponym: Diogenes syndrome". Int J Geriatr Psychiatry. 23 (9): 990–1. doi:10.1002/gps.2005. PMID 18752218.
8. ^ Cooney, C; Hamid, W (1995). "Review: diogenes syndrome". Age and Ageing. 24 (5): 451–3. doi:10.1093/ageing/24.5.451. PMID 8669353.
9. ^ Orrell, M; Sahakian, B. (1991). "Dementia of frontal type". Psychol Med. 21 (3): 553–6. doi:10.1017/S0033291700022170. PMID 1946843.
10. ^ Hanon C, P. C. (2004). Diogenes Syndrome: A Transnosographic Approach. Encephale, 30 (4), 315-322.
11. ^ a b c d e f Reyes-Ortiz, C (2001). "Diogenes syndrome: The self-neglect elderly". Comprehensive Therapy. 27 (2): 117–121. doi:10.1007/s12019-996-0005-6. PMID 11430258.
12. ^ Clark, AN; Mannikar (February 15, 1975). "Diogenes syndrome. A clinical study of gross neglect in old age". The Lancet. 1 (7903): 366–8. doi:10.1016/S0140-6736(75)91280-5. PMID 46514.
13. ^ Cipriani, Gabriele; Claudio Lucetti; Marcella Vedovello; Angelo Nuti (14 December 2012). "Diogenes syndrome in patients suffering from dementia". Dialogues in Clinical Neuroscience. 14 (4): 455–460. PMC 3553571. PMID 23393422.
## Further reading[edit]
* Radebaugh, TS; Hooper, FJ; Gruenberg, EM. (1987). "The social breakdown syndrome in the elderly population living in the community: the helping study". Br J Psychiatry. 151 (3): 341–6. doi:10.1192/bjp.151.3.341. PMID 3501323.
* Shah, AK (1990). "Senile squalour syndrome: what to expect and how to treat it". Geriatr Med. 20: 10–26.
* Wrigley, M; Cooney, C. (1992). "Diogenes syndrome--an Irish series". Ir J Psychol Med. 9: 37–41. doi:10.1017/S0790966700013896.
* Snowdon, J. (1987). "Uncleanliness among persons seen by community health workers". Hosp Community Psychiatry. 38 (5): 491–4. doi:10.1176/ps.38.5.491. PMID 3596484.
* Berlyne, N. (1975). "Diogenes syndrome". Lancet. 305 (7905): 515. doi:10.1016/S0140-6736(75)92850-0.
* Cole, AJ; Gillett, TP.; Fairbairn, Andrew (1992). "A case of senile self-neglect in a married couple: 'Diogenes a deux'". Int J Geriatr Psychiatry. 7 (11): 839–41. doi:10.1002/gps.930071111.
* O'Mahony, D; Evans, JG (1994). "Diogenes syndrome by proxy". The British Journal of Psychiatry. 164 (5): 705–6. doi:10.1192/bjp.164.5.705. PMID 7921736.
* Post F. "Functional disorders: 1. Description, incidence and recognition". In: Levy R, Post F, eds. The psychiatry of late life. Oxford: Blackwell, 1982;180-1.
* Roe, PF. (1977). "Self-neglect". Age Ageing. 6 (3): 192–4. doi:10.1093/ageing/6.3.192. PMID 899969.
* MacAnespie, H (1975). "Diogenes Syndrome". The Lancet. 305 (7909): 750. doi:10.1016/S0140-6736(75)91664-5. PMID 47514.
* Wolfson, P; Cohen, M; Lindesay, J; Murphy, E (1990). "Section 47 and its use with mentally disordered people". Journal of Public Health Medicine. 12 (1): 9–14. doi:10.1093/oxfordjournals.pubmed.a042517. PMID 2390316.
## External links[edit]
* 'Husband let wife starve to death' – BBC News item, Friday, 28 March 2008
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Diogenes syndrome
|
c0424291
| 7,199 |
wikipedia
|
https://en.wikipedia.org/wiki/Diogenes_syndrome
| 2021-01-18T19:08:14 |
{"umls": ["C0424291"], "wikidata": ["Q1226826"]}
|
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