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Pearson syndrome
Other namesSideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, Pearson's marrow/pancreas syndrome
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome.It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than a hundred cases have been reported in medical literature worldwide.
The syndrome was first described by pediatric hematologist and oncologist Howard Pearson in 1979;[1] the deletions causing it were discovered a decade later.[2]
## Contents
* 1 Presentation
* 2 Genetics
* 2.1 Mitochondrial disease
* 2.2 Pearson marrow-pancreas syndrome
* 3 Pathophysiology
* 3.1 Defining features
* 4 Diagnosis
* 5 Treatment
* 6 History
* 7 References
* 8 External links
## Presentation[edit]
Pearson syndrome is a very rare mitochondrial disorder that is characterized by health conditions such as sideroblastic anemia, liver disease, and exocrine pancreas deficiency.[3]
## Genetics[edit]
Mitochondria
Pearson syndrome is a mitochondrial disease caused by a deletion in mitochondrial DNA (mtDNA).[3] An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA molecules in each mitochondrion. With mitochondrial disorders caused by defects in the mtDNA, the severity of the disease depends on the number of mutant mtDNA molecules present in the cells.[citation needed]
Pearson syndrome consists of mtDNA deletions that differs in size and location compared to other mtDNA disorders such as chronic progressive ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS). The deletions in these molecules are usually spontaneous and normally include one or more tRNA genes.[4] Even though prenatal testing for Pearson syndrome is theoretically possible, analyzing and interpreting the results would be extremely difficult.[5]
With the use of molecular genetic testing, the deletions of mitochondrial DNA with Pearson syndrome ranges in size from 1.1 to 10 kilobases. A common mtDNA deletion associated with Pearson syndrome is the deletion of 4977 bp. This deletion has been labeled as m.8470_13446del4977.[6] Diagnosing Pearson syndrome utilizes leukocyte DNA with the Southern Blot analysis. This type of mitochondrial DNA deletion are normally more abundant and easily isolated in the blood than in any other tissue type.[citation needed]
### Mitochondrial disease[edit]
Pearson syndrome is classified as a mitochondrial disease because it consists of several overlapping syndromes that are caused by mutations of mitochondrial DNA. Specifically, Pearson syndrome is a combination of syndromes that involves the bone marrow and the exocrine pancreas.[7]
### Pearson marrow-pancreas syndrome[edit]
Pearson marrow pancreas syndrome (PMPS) is a condition that presents itself with severe reticulocyto-penic anemia.[3] With the pancreas not functioning properly, this leads to high levels of fats in the liver. PMPS can also lead to diabetes and scarring of the pancreas.[7]
## Pathophysiology[edit]
### Defining features[edit]
1. Blood. With Pearson syndrome, the bone marrow fails to produce white blood cells called neutrophils. The syndrome also leads to anemia, low platelet count, and aplastic anemia.[8] It may be confused with transient erythroblastopenia of childhood.[9]
2. Pancreas. Pearson syndrome causes the exocrine pancreas to not function properly because of scarring and atrophy.[10]
Individuals with this condition have difficulty absorbing nutrients from their diet which leads to malabsorption. Infants with this condition generally do not grow or gain weight.[7]
Neutrophils
## Diagnosis[edit]
To diagnose Pearson Syndrome a physician can either collect a bone marrow biopsy and look for sideroblastic anemia, a symptom of Pearson Syndrome, or measure the fat content in a feces sample. Genetic testing is also an option in which identifying mutations in mitochondrial DNA, specifically deletions or duplications, would confirm the diagnosis of Pearson Syndrome.[11]
## Treatment[edit]
Currently there are no approved therapies for Pearson Syndrome and patients reply on supportive care. Minovia Therapeutics is the first company to conduct a designated clinical trial for treating patients affected by this disease[12]
## History[edit]
Pearson syndrome was initially characterized in 1979 as a fatal disorder that affects infants. It has now been identified as a rare condition that affects multiple systems. The symptoms of Pearson syndrome are mitochondrial cytopathy with anemia, neutropenia, and thrombocytopenia.[10]
## References[edit]
1. ^ Pearson, Howard A.; Lobel, Jeffrey S.; Kocoshis, Samuel A.; Naiman, J. Lawrence; Windmiller, Joan; Lammi, Ahti T.; Hoffman, Ronald; Marsh, John C. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction". The Journal of Pediatrics. 95 (6): 976–84. doi:10.1016/S0022-3476(79)80286-3. PMID 501502.
2. ^ Rotig, A; Colonna, M; Bonnefont, J.P; Blanche, S; Fischer, A; Saudubray, J.M; Munnich, A (1989). "Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome". Lancet. 1 (8643): 902–3. doi:10.1016/S0140-6736(89)92897-3. PMID 2564980. S2CID 40198120.
3. ^ a b c Kefala-Agoropoulou, Kalomoira; Roilides, Emmanuel; Lazaridou, Anna; Karatza, Eliza; Farmaki, Evangelia; Tsantali, Haido; Augoustides-Savvopoulou, Persephone; Tsiouris, John (2007). "Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene". Hematology. 12 (6): 549–53. doi:10.1080/10245330701400900. PMID 17852457. S2CID 19167784.
4. ^ Roberts, Roland G.; Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K.; Craigen, William J.; Schmitt, Eric S.; Wong, Lee-Jun C. (2010). "Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes". PLOS ONE. 5 (12): e15687. Bibcode:2010PLoSO...515687S. doi:10.1371/journal.pone.0015687. PMC 3004954. PMID 21187929.
5. ^ van den Ouweland, J M W; de Klerk, J B C; van de Corput, M P; Dirks, R W; Raap, A K; Scholte, H R; Huijmans, J G M; Hart, L M; Bruining, G J; Maassen, J A (2000). "Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome". European Journal of Human Genetics. 8 (3): 195–203. doi:10.1038/sj.ejhg.5200444. PMID 10780785.
6. ^ DiMauro, Salvatore; Hirano, Michio (May 3, 2011). "Mitochondrial DNA Deletion Syndromes". In Pagon, Roberta A; Adam, Margaret P; Ardinger, Holly H; Wallace, Stephanie E; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D; Fong, Chin-To; Smith, Richard JH; Stephens, Karen (eds.). GeneReviews. Seattle: University of Washington.
7. ^ a b c "Pearson marrow-pancreas syndrome". Genetics Home Reference. May 2013.
8. ^ Pearson Syndrome. http://marrowfailure.cancer.gov/PEARSON.html
9. ^ Kliegman, Stanton (2011). Nelson's Textbook of Pediatrics. Elsevier. p. 1652. ISBN 9788131232774.
10. ^ a b Pearson Syndrome at eMedicine
11. ^ U.S. Department of Health and Human Services, National Institutes of Health, Genetic and Rare Diseases Information Center (updated in 2016). Pearson’s Syndrome. Retrieved from: https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome#:~:text=Diagnosis%20of%20Pearson%20syndrome%20is,therapy%2C%20and%20treatment%20of%20infections.
12. ^ https://clinicaltrials.gov/ct2/show/NCT03384420?cond=Pearson+Syndrome&draw=2&rank=3
## External links[edit]
* Pearson Syndrome research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
* GeneReviews: Pearson syndrome
Classification
D
* ICD-10: D64.0
* OMIM: 557000
* DiseasesDB: 32159
External resources
* eMedicine: ped/1750
* GeneReviews: Mitochondrial DNA Deletion Syndromes
* Orphanet: 699
* v
* t
* e
Mitochondrial diseases
Carbohydrate metabolism
* PCD
* PDHA
Primarily nervous system
* Leigh disease
* LHON
* NARP
Myopathies
* KSS
* Mitochondrial encephalomyopathy
* MELAS
* MERRF
* PEO
No primary system
* DAD
* MNGIE
* Pearson syndrome
Chromosomal
* OPA1
* Kjer's optic neuropathy
* SARS2
* HUPRA syndrome
* TIMM8A
* Mohr–Tranebjærg syndrome
see also mitochondrial proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pearson syndrome | c0342784 | 28,400 | wikipedia | https://en.wikipedia.org/wiki/Pearson_syndrome | 2021-01-18T18:38:48 | {"gard": ["7343"], "umls": ["C0342773"], "orphanet": ["699"], "wikidata": ["Q9081107"]} |
Gingival fibromatosis with hypertrichosis
SpecialtyDermatology
Gingival fibromatosis with hypertrichosis is a cutaneous condition characterized by dark terminal hairs on the peripheral face, central back, and extremities.[1] It is a RASopathy.
## See also[edit]
* Cantú 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. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gingival fibromatosis with hypertrichosis | c1851120 | 28,401 | wikipedia | https://en.wikipedia.org/wiki/Gingival_fibromatosis_with_hypertrichosis | 2021-01-18T18:39:57 | {"gard": ["2324"], "mesh": ["C565016"], "omim": ["135400"], "orphanet": ["2026"], "synonyms": ["CGHT", "Congenital generalized hypertrichosis terminalis", "Hirsutism-congenital gingival hyperplasia syndrome", "Hypertrichosis with or without gingival hyperplasia"], "wikidata": ["Q5563112"]} |
Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Leukoplakia | c0023531 | 28,402 | gard | https://rarediseases.info.nih.gov/diseases/6897/leukoplakia | 2021-01-18T17:59:26 | {"mesh": ["D007971"], "umls": ["C0023531"], "synonyms": []} |
Human disease
Smith–Magenis syndrome
Other names17p11.2 microdeletion syndrome
SpecialtyNeurology, medical genetics
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Smith–Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.[1]
It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.[2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Eponym
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set and appear close together there is also a slant upwards. Eyebrows are heavy with lateral extension. The mouth is the most noticeable feature, both upper and lower lips are full, the mouth is wide. The mouth curves downwards and the upper lip curves outwards, due to a fleshy philtrum. These facial features become more noticeable as the individual ages, as Mandible growth outstrips that of the maxilla leading to a clear midface hypoplasia. There is also a mild brachycephaly.[3]
Disrupted sleep patterns are characteristic of Smith–Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin.[4]
People with Smith–Magenis syndrome have engaging personalities, but all also have a lot of behavioral problems. These behavioral problems include frequent temper tantrums, meltdowns and outbursts, aggression, anger, fidgeting, compulsive behavior, anxiety, impulsiveness, and difficulty paying attention. Self-harm, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith–Magenis syndrome. People with this condition may also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip"), as well as possessing an impressive ability to recall a wide range of small details about people or subject-specific trivia.
Other symptoms can include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia), strabismus, and other problems with vision. Heart and kidney defects also have been reported in people with Smith–Magenis syndrome, though they are less common.
## Genetics[edit]
Smith–Magenis syndrome is a chromosomal condition related to low copy repeats of specific segments of chromosome 17.[5] Most people with SMS have a deletion of genetic material from a specific region of chromosome 17 (17p11.2). Although this region contains multiple genes, recently researchers discovered that the loss of one particular gene the retinoic acid induced 1 or RAI1 is responsible for most of the characteristic features of this condition.[6][7] Also, other genes within the chromosome 17 contribute to the variability and severity of the clinical features. The loss of other genes in the deleted region may help explain why the features of Smith–Magenis syndrome vary among affected individuals. A small percentage of people with Smith–Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion.
These deletions and mutations lead to the production of an abnormal or nonfunctional version of the RAI1 protein. RAI1 is a transcription factor that regulates the expression of multiple genes, including several that are involved in controlling circadian rhythm, such as CLOCK.[8] The groups led by James Lupski (Baylor College of Medicine) and Sarah Elsea (Virginia Commonwealth University) are in the process of studying the exact function of this gene in relation to Smith Magenis Syndrome.[9][10]
SMS is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. People with Smith–Magenis syndrome most often have no history of the condition in their family.
## Diagnosis[edit]
SMS is usually confirmed by blood tests called chromosome (cytogenetic) analysis and utilize a technique called FISH (fluorescent in situ hybridization). The characteristic micro-deletion was sometimes overlooked in a standard FISH test, leading to a number of people with the symptoms of SMS with negative results.
The recent development of the FISH for 17p11.2 deletion test has allowed more accurate detection of this deletion.[11] However, further testing is required for variations of Smith–Magenis syndrome that are caused by a mutation of the RAI1 gene as opposed to a deletion.
Children with SMS are often given psychiatric diagnoses such as autism, attention deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), attention deficit disorder (ADD) and/or mood disorders.
## Treatment[edit]
Treatment for Smith–Magenis syndrome relies on managing its symptoms. Children with SMS often require several forms of support, including physical therapy, occupational therapy and speech therapy. Support is often required throughout an affected person's lifetime.
Medication is often used to address some symptoms. Melatonin supplements and trazodone are commonly used to regulate sleep disturbances. In combination with exogenous melatonin, blockade of endogenous melatonin production during the day by the adrenergic antagonist acebutolol can increase concentration, improve sleep and sleep timing and aid in improvement of behaviour.[12] Other medications (such as risperdal) are sometimes used to regulate violent behavior.
## Eponym[edit]
The eponym Smith–Magenis refers to two scientists who described the condition in 1986, namely, Ann C. M. Smith, a genetic counselor at the National Institutes of Health, and R. Ellen Magenis, a pediatrician, medical geneticist and cytogeneticist at the Oregon Health Sciences University.[13][14]
## See also[edit]
* Serine hydroxymethyltransferase
* Charcot-Marie-Tooth disease
## References[edit]
1. ^ "Smith-Magenis syndrome". December 2013. Retrieved 2016-03-27.
2. ^ Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K; Lupski, JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse". Genome Research. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
3. ^ Allanson, JE; Greenberg, F.; Smith, ACM (1999). "The face of Smith-Magenis syndrome: a subjective and objective study". Journal of Medical Genetics. 36: 394–397. doi:10.1136/jmg.36.5.394. PMC 1734375. PMID 10353786. Retrieved 27 November 2018.
4. ^ De Leersnyder H, De Blois MC, Claustrat B, et al. (2001). "Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome". J Pediatr. 139 (1): 111–116. doi:10.1067/mpd.2001.115018. PMID 11445803.
5. ^ Shaw, CJ; Withers, MA; Lupski, JR (July 2004). "Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates". American Journal of Human Genetics. 75 (1): 75–81. doi:10.1086/422016. PMC 1182010. PMID 15148657.
6. ^ Girirajan S, Vlangos CN, Szomju BB, et al. (2006). "Genotype-phenotype correlation in Smith–Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum". Genet. Med. 8 (7): 417–27. doi:10.1097/01.gim.0000228215.32110.89. PMID 16845274.
7. ^ Elsea, SH; Girirajan, S (April 2008). "Smith-Magenis syndrome". European Journal of Human Genetics. 16 (4): 412–21. doi:10.1038/sj.ejhg.5202009. PMID 18231123.
8. ^ Williams SR, Zies D, Mullegama SV, et al. (2012). "Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity". Am. J. Hum. Genet. 90 (6): 941–949. doi:10.1016/j.ajhg.2012.04.013. PMC 3370274. PMID 22578325.
9. ^ Lupski, James Richard. Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
10. ^ Building bridges of hope: taking stock of the Smith-Magenis Syndrome
11. ^ Lupski, James R.; Potocki, Lorraine; Chen, Ken-Shiung; Park, Sung-Sup; Osterholm, Doreen E.; Withers, Marjorie A.; Kimonis, Virginia; Summers, Anne M.; Meschino, Wendy S.; Anyane-Yeboa, Kwame; Kashork, Catherine D.; Shaffer, Lisa G. (1 January 2000). "Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. PMID 10615134.
12. ^ De Leersnyder, H. (September 2006). "Inverted rhythm of melatonin secretion in Smith–Magenis syndrome: from symptoms to treatment". Trends Endocrinol. Metab. (Abstract). 17 (7): 291–8. doi:10.1016/j.tem.2006.07.007. PMID 16890450.
De-Leersnyder H, de-Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A (September 2001). "β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith–Magenis syndrome". Journal of Medical Genetics. 38 (9): 586–590. doi:10.1136/jmg.38.9.586. PMC 1734944. PMID 11546826. Retrieved 2009-05-21.
13. ^ synd/3884 at Who Named It?
14. ^ Smith AC, McGavran L, Robinson J, et al. (1986). "Interstitial deletion of (17)(p11.2p11.2) in nine patients". Am. J. Med. Genet. 24 (3): 393–414. doi:10.1002/ajmg.1320240303. PMID 2425619.
This article incorporates public domain text from The U.S. National Library of Medicine
## External links[edit]
Classification
D
* ICD-10: Q93.5
* ICD-9-CM: 758.33
* OMIM: 182290
* MeSH: D058496
* DiseasesDB: 31737
External resources
* Orphanet: 819
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Smith–Magenis syndrome | c0795864 | 28,403 | wikipedia | https://en.wikipedia.org/wiki/Smith%E2%80%93Magenis_syndrome | 2021-01-18T18:35:15 | {"gard": ["8197"], "mesh": ["D058496"], "umls": ["C0795864"], "icd-9": ["758.33"], "orphanet": ["819"], "wikidata": ["Q2295338"]} |
A number sign (#) is used with this entry because recurrent isolated invasive pneumococcal disease (IPD2) can be caused by mutation in the gene encoding the NF-kappa-B essential modulator (NEMO; 300248). Another form of this disorder (IPD1; 610799) is caused by mutation in the IRAK4 gene (606883).
Clinical Features
Ku et al. (2007) described a 4.5-year-old boy born to unrelated Belgian parents in whom recurrent invasive pneumococcal disease (IPD) as the only clinical infectious manifestation of an inherited disorder in nuclear factor kappa-B (see 164011)-dependent immunity. The boy had received all routine vaccinations with no adverse effect. In infancy, he developed mild but distinctive clinical features such as frontal bossing, hypodontia with conical incisors, and dry skin with normal sweating, consistent with a mild form of ectodermal dysplasia. At age 15 months, he was hospitalized for 4 days for persistent fever with buccal cellulitis, caused by Streptococcus pneumoniae serotype 33. He recovered completely after treatment with intravenous cefuroxime for 7 days. At age 22 months, the patient developed a left-sided limp with no fever, and mild periorbital cellulitis of the left eye caused by Streptococcus pneumoniae serotype 33. He was treated intravenously with an antibiotic for 7 days. With continuation of oral antibiotics, osteomyelitis of the left talus relapsed. After 6 weeks of intravenous antibiotic, followed by a 1-month course of oral antibiotic, he recovered from the osteomyelitis without sequelae. At age 23 months, he was vaccinated with heptavalent pneumococcal conjugate vaccine, with a second dose at age 25 months. After 15 months, he received a 23-valent pneumococcal vaccine. Despite these vaccinations, at age 2 years and 7 months, he presented with fever caused by infection with Streptococcus pneumoniae serotype 23. Three months later he developed arthritis of the left hip caused by Streptococcus pneumoniae serotype 23. Monthly prophylactic treatment with intravenous immunoglobulins was started when the patient was 3 years, 8 months old. Patient fibroblasts showed impaired responses to stimulation by both IL1-beta (147720) and TNF-alpha (191160). This and other responses suggested a defect downstream of the Toll/IL1R signaling pathway (see 603030).
Molecular Genetics
In the Belgian patient described by them, Ku et al. (2007) found a 518C-G transversion in exon 4 of the NEMO gene, predicted to result in an arg173-to-gly (R173G) mutation (300248.0023). The mother was heterozygous for this mutation.
Autosomal recessive IRAK4 deficiency (607676) and X-linked recessive NEMO deficiencies (e.g., 300291, 300584) are primary immunodeficiencies that affect NF-kappa-B-mediated immunity and cause a relatively broad susceptibility to infections. The patients described by Ku et al. (2007) displayed none of the other known infectious phenotypes associated with these disorders.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 | c1845073 | 28,404 | omim | https://www.omim.org/entry/300640 | 2019-09-22T16:19:51 | {"mesh": ["C564468"], "omim": ["300640"]} |
An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. Melanocytomas are typically a benign meaning they can grow, but rarely transform into a malignancy. Even so, local growth can affect adjacent tissues.
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Epidemiology
* 4 See also
* 5 References
## Symptoms[edit]
Patients who have malignant gliomas of the optic nerve have rapidly progressive, painful visual loss accompanied by signs of an optic neuropathy. Initial visual loss may be unilateral or bilateral (chiasmal involvement), but rapid progression to bilateral blindness and death are constant features. Depending on the initial location of the tumor, visual loss may be accompanied by exophthalmos, extraocular motility
Optic nerve melanocytoma does not usually produce symptoms or grow. If they slowly grow, optic nerve melanocytoma can produce afferent pupillary defects (30%), subretinal fluid (10%), and an enlarged blind spot (75%).
On fundoscopic exam, the optic disc may be swollen, atrophic, or even normal.[1] Central retinal vein occlusion may occur.
If the tumor is next to the optic nerve, growth can compress the nerve and cause gradual loss of vision and unilateral proptosis.[2] Dyschromatopsia may occur.[1] Growth can also cause compressive vascular problems like central retinal vein occlusion. Lastly, growth also causes the tumor to exceed its blood supply. In these cases, necrotic areas form inside the tumor. Necrosis can (in turn) cause intraocular and rarely orbital inflammation.
## Diagnosis[edit]
Most optic nerve melanocytomas are small, black, and do not grow.
## Epidemiology[edit]
Most optic nerve tumors (65 percent) are gliomas that occur somewhere along the anterior visual pathway.[1]
## See also[edit]
* Melanocytoma
## References[edit]
1. ^ a b c Yanoff, Myron; Duker, Jay S. (2008). Ophthalmology (3rd ed.). Edinburgh: Mosby. p. 981. ISBN 978-0323057516.CS1 maint: ref=harv (link)
2. ^ Goldman, Lee (2011). Goldman's Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. pp. 2430. ISBN 978-1437727883.
* v
* t
* e
Eye neoplasm
Melanoma
* Uveal melanoma
* Ciliary body melanoma
Other
* Medulloepithelioma/Diktyoma
* Intraocular lymphoma
* Orbital lymphoma
* Optic nerve sheath meningioma
* Optic nerve tumor
* Retinoblastoma
* Schwannoma
* Visual pathway glioma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Optic nerve tumor | c0524802 | 28,405 | wikipedia | https://en.wikipedia.org/wiki/Optic_nerve_tumor | 2021-01-18T18:52:28 | {"mesh": ["D019574"], "umls": ["C0524802"], "wikidata": ["Q7098798"]} |
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked Charcot-Marie-Tooth disease type 2 | c1844873 | 28,406 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101076 | 2021-01-23T17:26:13 | {"gard": ["1243"], "mesh": ["C535302"], "omim": ["302801"], "umls": ["C1844873"], "icd-10": ["G60.0"], "synonyms": ["CMTX2"]} |
This article is about the animal disease. For the unrelated human disease, see Hand, foot, and mouth disease.
Foot-and-mouth disease
Other namesHoof-and-mouth disease, Aphthae epizooticae, Apthous fever
Ruptured oral blister in a diseased cow
SpecialtyVeterinary medicine
Foot-and-mouth disease (FMD) or hoof-and-mouth disease (HMD) is an infectious and sometimes fatal viral disease that affects cloven-hoofed animals, including domestic and wild bovids.[1][2] The virus causes a high fever lasting two to six days, followed by blisters inside the mouth and on the feet that may rupture and cause lameness.
FMD has very severe implications for animal farming, since it is highly infectious and can be spread by infected animals comparatively easily through contact with contaminated farming equipment, vehicles, clothing, and feed, and by domestic and wild predators.[3] Its containment demands considerable efforts in vaccination, strict monitoring, trade restrictions, quarantines, and the culling of both infected and healthy animals.
Susceptible animals include cattle, water buffalo, sheep, goats, pigs,[4][5] antelope, deer, and bison. It has also been known to infect hedgehogs and elephants;[3][6] llamas and alpacas may develop mild symptoms, but are resistant to the disease and do not pass it on to others of the same species.[3] In laboratory experiments, mice, rats, and chickens have been artificially infected, but they are not believed to contract the disease under natural conditions.[3]
The virus responsible for FMD is an aphthovirus, foot-and-mouth disease virus. Infection occurs when the virus particle is taken into a cell of the host. The cell is then forced to manufacture thousands of copies of the virus, and eventually bursts, releasing the new particles in the blood. The virus is genetically highly variable,[7] which limits the effectiveness of vaccination. Human infections are possible but extremely rare.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Transmission
* 2.2 Infecting humans
* 3 Prevention
* 4 Epidemiology
* 4.1 United States 1870–1929
* 4.2 Mexico–U.S. border 1947
* 4.3 United Kingdom 1967
* 4.4 Taiwan 1997
* 4.5 United Kingdom 2001
* 4.6 China 2005
* 4.7 United Kingdom 2007
* 4.8 Japan and Korea 2010–2011
* 5 History
* 6 Society and culture
* 6.1 Economic and ethical issues
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Ruptured blisters on the feet of a pig
The incubation period for FMD virus has a range between one and 12 days.[8][9] The disease is characterized by high fever that declines rapidly after two to three days, blisters inside the mouth that lead to excessive secretion of stringy or foamy saliva and to drooling, and blisters on the feet that may rupture and cause lameness.[4][10] Adult animals may suffer weight loss from which they do not recover for several months, as well as swelling in the testicles of mature males, and cows' milk production can decline significantly. Though most animals eventually recover from FMD, the disease can lead to myocarditis (inflammation of the heart muscle)[11] and death, especially in newborn animals. Some infected ruminants remain asymptomatic carriers, but they nonetheless carry the virus and may be able to transmit it to others. Pigs cannot serve as asymptomatic carriers.[12]
## Cause[edit]
Of the seven serotypes[13] of this virus, A, C, O, Asia 1, and SAT3 appear to be distinct lineages; SAT 1 and SAT 2 are unresolved clades.[14] The mutation rate of the protein-encoding sequences of strains isolated between 1932 and 2007 has been estimated to be 1.46 × 10−3 substitutions/site/year, a rate similar to that of other RNA viruses. The most recent common ancestor appears to have evolved about 481 years ago (early 16th century). This ancestor then diverged into two clades which have given rise to the extant circulating Euro-Asiatic and South African. SAT 1 diverged first 397 years ago, followed by sequential divergence of serotype SAT 2 (396 years ago), A (147 years ago), O (121 years ago), Asia 1 (89 years ago), C (86 years ago), and SAT 3 (83 years ago). Bayesian skyline plot reveals a population expansion in the early 20th century that is followed by a rapid decline in population size from the late 20th century to the present day. Within each serotype, there was no apparent periodic, geographic, or host species influence on the evolution of global FMD viruses. At least seven genotypes of serotype Asia 1 are known.[15]
### Transmission[edit]
The FMD virus can be transmitted in a number of ways, including close-contact, animal-to-animal spread, long-distance aerosol spread and fomites, or inanimate objects, typically fodder and motor vehicles. The clothes and skin of animal handlers such as farmers, standing water, and uncooked food scraps and feed supplements containing infected animal products can harbor the virus, as well. Cows can also catch FMD from the semen of infected bulls. Control measures include quarantine and destruction of both infected and healthy (uninfected) livestock, and export bans for meat and other animal products to countries not infected with the disease.
Just as humans may spread the disease by carrying the virus on their clothes and bodies, animals that are not susceptible to the disease may still aid in spreading it. This was the case in Canada in 1952, when an outbreak flared up again after dogs had carried off bones from dead animals.[3] Wolves are thought to play a similar role in the former Soviet Union.[16]
Daniel Rossouw Kannemeyer (1843–1925) published a note in the Transactions of the South African Philosophical Society volume 8 part 1 in which he links saliva-covered locusts with the spread of the disease.[17]
### Infecting humans[edit]
Humans can be infected with FMD through contact with infected animals, but this is extremely rare.[18] Some cases were caused by laboratory accidents. Because the virus that causes FMD is sensitive to stomach acid, it cannot spread to humans via consumption of infected meat, except in the mouth before the meat is swallowed. In the UK, the last confirmed human case occurred in 1966,[19][20] and only a few other cases have been recorded in countries of continental Europe, Africa, and South America. Symptoms of FMD in humans include malaise, fever, vomiting, red ulcerative lesions (surface-eroding damaged spots) of the oral tissues, and sometimes vesicular lesions (small blisters) of the skin. According to a newspaper report, FMD killed two children in England in 1884, supposedly due to infected milk.[21]
Another viral disease with similar symptoms, hand, foot and mouth disease, occurs more frequently in humans, especially in young children; the cause, Coxsackie A virus, is different from the FMD virus. Coxsackie viruses belong to the Enteroviruses within the Picornaviridae.
Because FMD rarely infects humans, but spreads rapidly among animals, it is a much greater threat to the agriculture industry than to human health. Farmers around the world can lose enormous amounts of money during a foot-and-mouth epizootic, when large numbers of animals are destroyed, and revenues from milk and meat production go down.
## Prevention[edit]
Plum Island Animal Disease Center
Like other RNA viruses, the FMD virus continually evolves and mutates, thus one of the difficulties in vaccinating against it is the huge variation between, and even within, serotypes. No cross-protection has been seen between serotypes (a vaccine for one serotype will not protect against any others) and in addition, two strains within a given serotype may have nucleotide sequences that differ by as much as 30% for a given gene. This means FMD vaccines must be highly specific to the strain involved. Vaccination only provides temporary immunity that lasts from months to years.
Currently, the World Organisation for Animal Health recognizes countries to be in one of three disease states with regard to FMD: FMD present with or without vaccination, FMD-free with vaccination, and FMD-free without vaccination.[22] Countries designated FMD-free without vaccination have the greatest access to export markets, so many developed nations, including Canada, the United States, and the UK, work hard to maintain their current status. Some countries such as Brazil and Argentina, which have large beef-exporting industries, practise vaccination in some areas, but have other vaccination-free zones.
Reasons cited for restricting export from countries using FMD vaccines include, probably most importantly, routine blood tests relying on antibodies cannot distinguish between an infected and a vaccinated animal,[23] which severely hampers screening of animals used in export products, risking a spread of FMD to importing countries. A widespread preventive vaccination would also conceal the existence of the virus in a country. From there, it could potentially spread to countries without vaccine programs. Lastly, an animal infected shortly after being vaccinated can harbor and spread FMD without showing symptoms itself, hindering containment and culling of sick animals as a remedy.
Many early vaccines used dead samples of the FMD virus to inoculate animals, but those early vaccines sometimes caused real outbreaks. In the 1970s, scientists discovered that a vaccine could be made using only a single key protein from the virus. The task was to produce enough quantities of the protein to be used in the vaccination. On June 18, 1981, the US government announced the creation of a vaccine targeted against FMD, the world's first genetically engineered vaccine.
The North American FMD Vaccine Bank is housed at the United States Department of Agriculture's Foreign Animal Disease Diagnostic Laboratory at Plum Island Animal Disease Center. The center, located 1.5 mi (2.4 km) off the coast of Long Island, New York, is the only place in the United States where scientists can conduct research and diagnostic work on highly contagious animal diseases such as FMD. Because of this limitation, US companies working on FMD usually use facilities in other countries where such diseases are endemic.
## Epidemiology[edit]
FMD notice; Monmouthshire, Wales, 1872
### United States 1870–1929[edit]
The US has had nine FMD outbreaks since it was first recognized on the northeastern coast in 1870;[24] the most devastating happened in 1914. It originated from Michigan, but its entry into the stockyards in Chicago turned it into an epizootic. About 3,500 livestock herds were infected across the US, totaling over 170,000 cattle, sheep, and swine. The eradication came at a cost of US$4.5 million, a huge sum of money in 1914.
A 1924 outbreak in California resulted not only in the slaughter of 109,000 farm animals, but also 22,000 deer.
The US had its latest FMD outbreak in Montebello, California, in 1929. This outbreak originated in hogs that had eaten infected meat scraps from a tourist steamship that had stocked meat in Argentina. Over 3,600 animals were slaughtered and the disease was contained in less than a month.[25][26]
### Mexico–U.S. border 1947[edit]
External audio
"High Steaks at the Border: When the United States and Mexico resolved their beef", Distillations Podcast and transcript, Episode 240, April 25, 2019, Science History Institute
On December 26, 1946, the United States and Mexico jointly declared that FMD had been found in Mexico. Initially, proposals from Texans were for an animal-proof wall, to prevent animals from crossing the border and spreading the disease, but the two countries eventually managed to cooperate in a bilateral effort and eradicated the disease without building a wall. To prevent tension between ranchers and the veterinarians, public broadcasts over the radio and with speakers on trucks were used to inform Mexican ranchers of why the US veterinarians were working on their livestock. Any rancher who lost cattle due to it being put down by the vets would receive financial compensation. However, the tension remained and unfortunately resulted in clashes between locals and the military protected Us veterinarians. These teams of veterinarians worked from outside the infection zone of the disease and worked their way to the heart of the epidemic. Over 60,000,00 injections were administered to livestock by the end of 1950.[27] [28] It was a sign that U.S.–Mexico relations were improving in the post-World War II era.[29][30]
### United Kingdom 1967[edit]
Main article: 1967 United Kingdom foot-and-mouth epidemic
In October 1967, a farmer in Shropshire reported a lame sow, which was later diagnosed with FMD. The source was believed to be remains of legally imported infected lamb from Argentina and Chile. The virus spread, and in total, 442,000 animals were slaughtered and the outbreak had an estimated cost of £370 million.[citation needed]
### Taiwan 1997[edit]
Pork export from Taiwan during 1995 to 1998 shows the devastating drop.[31]
Taiwan had previous epidemics of FMD in 1913–14 and 1924–29, but had since been spared,[32] and considered itself free of FMD as late as in the 1990s. On the 19th of March 1997, a sow at a farm in Hsinchu, Taiwan, was diagnosed with a strain of FMD that only infects swine. Mortality was high, nearing 100% in the infected herd. The cause of the epidemic was not determined, but the farm was near a port city known for its pig-smuggling industry and illegal slaughterhouses. Smuggled swine or contaminated meat are thus likely sources of the disease.
The disease spread rapidly among swine herds in Taiwan, with 200–300 new farms being infected daily. Causes for this include the high swine density in the area, with up to 6,500 hogs per square mile, feeding of pigs with untreated garbage, and the farms' proximity to slaughterhouses. Other systemic issues, such as lack of laboratory facilities, slow response, and initial lack of a vaccination program, contributed. The farmers allegedly intentionally introduced FMD to their flocks, because the payment offered to farmers for culled swine was at the time higher than their market value.[citation needed]
A complicating factor is the endemic spread of swine vesicular disease (SVD) in Taiwan. The symptoms are indistinguishable from FMD, which may have led to previous misdiagnosing of FMD as SVD. Laboratory analysis was seldom used for diagnosis, and FMD may thus have gone unnoticed for some time.
The swine depopulation was a massive undertaking, with the military contributing substantial manpower. At peak capacity, 200,000 hogs per day were disposed of, mainly by electrocution. Carcasses were disposed of by burning and burial, but burning was avoided in water resource-protection areas. In April, industrial incinerators were running around the clock to dispose of the carcasses.
Initially, 40,000 combined vaccine doses for the strains O-1, A-24, and Asia-1 were available and administered to zoo animals and valuable breeding hogs. At the end of March, half a million new doses for O-1 and Asia-1 were made available. On the May 3rd, 13 million doses of O-1 vaccine arrived, and both the March and May shipments were distributed free of charge. With a danger of vaccination crews spreading the disease, only trained farmers were allowed to administer the vaccine under veterinary supervision.
Taiwan had previously been the major exporter of pork to Japan,[33] and among the top 15 pork producers in the world in 1996.[34] During the outbreak, over 3.8 million swine were destroyed at a cost of US$6.9 billion. The Taiwanese pig industry was devastated as a result, and the export market was in ruins.[25][35] In 2007, Taiwan was considered free of FMD, but was still conducting a vaccination program, which restricts the export of meat from Taiwan.
### United Kingdom 2001[edit]
Main article: 2001 United Kingdom foot-and-mouth outbreak
The epidemic of FMD in the United Kingdom in the spring and summer of 2001 was caused by the "Type O pan Asia" strain of the disease.[36] This episode resulted in more than 2,000 cases of the disease in farms throughout the British countryside. More than six million sheep and cattle were killed in an eventually successful attempt to halt the disease.[37] The county of Cumbria was the most seriously affected area of the country, with 843 cases. By the time the disease was halted in October 2001, the crisis was estimated to have cost Britain £8 billion (US$13 billion)[37] to the agricultural and support industries, and to the outdoor industry. What made this outbreak so serious was the amount of time between infection being present at the first outbreak locus, and when countermeasures were put into operation against the disease, such as transport bans and detergent washing of both vehicles and personnel entering livestock areas. The epidemic was probably caused by pigs that had been fed infected rubbish that had not been properly heat-sterilized. Further, the rubbish is believed to have contained remains of infected meat that had been illegally imported to Britain.[38]
### China 2005[edit]
In April 2005, an Asia-1 strain of FMD appeared in the eastern provinces of Shandong and Jiangsu. During April and May, it spread to suburban Beijing, the northern province of Hebei, and the Xinjiang autonomous region in northwest China. On 13 May, China reported the FMD outbreak to the World Health Organization and the OIE. This was the first time China has publicly admitted to having FMD.[39][40] China is still reporting FMD outbreaks. In 2007, reports filed with the OIE documented new or ongoing outbreaks in the provinces of Gansu, Qinghai and Xinjiang. This included reports of domestic yak showing signs of infection.[41] FMD is endemic in pastoral regions of China from Heilongjiang Province in the northeast to Sichuan Province and the Tibetan Autonomous region in the southwest. Chinese domestic media reports often use a euphemism "Disease Number Five" (五号病 wǔhàobìng) rather than FMD in reports because of the sensitivity of the FMD issue. In March 2010, Southern Rural News (Nanfang Nongcunbao), in an article "Breaking the Hoof and Mouth Disease Taboo", noted that FMD has long been covered up in China by referring to it that way.[42] FMD is also called canker (口疮, literally "mouth ulcers" kǒuchuāng) or hoof jaundice (蹄癀 tíhuáng) in China, so information on FMD in China can be found online using those words as search terms.[43] One can find online many provincial orders and regulations on FMD control antedating China's acknowledgment that the disease existed in China, for example Guangxi Zhuang Autonomous Region 1991 regulation on preventing the spread of Disease No.5.[44]
### United Kingdom 2007[edit]
Main article: 2007 United Kingdom foot-and-mouth outbreak
An infection of FMD in the United Kingdom was confirmed by the Department for Environment, Food and Rural Affairs, on 3 August 2007, on farmland located in Normandy, Surrey.[45][46] All livestock in the vicinity were culled on 4 August. A nationwide ban on the movement of cattle and pigs was imposed, with a 3-km (1.9-mi) protection zone placed around the outbreak sites and the nearby virus research and vaccine production establishments, together with a 10-km (6.2-mi) increased surveillance zone.[47]
On 4 August, the strain of the virus was identified as a "01 BFS67-like" virus, one linked to vaccines and not normally found in animals, and isolated in the 1967 outbreak.[48] The same strain was used at the nearby Institute for Animal Health and Merial Animal Health Ltd at Pirbright, 2.5 miles (4.0 km) away, which is an American/French-owned research facility, and was identified as the likely source of infection.[49]
On 12 September, a new outbreak of the disease was confirmed in Egham, Surrey, 19 km (12 mi) from the original outbreak,[50] with a second case being confirmed on a nearby farm on 14 September.[51]
These outbreaks caused a cull of all at-risk animals in the area surrounding Egham, including two farms near the famous four-star hotel Great Fosters. These outbreaks also caused the closure of Windsor Great Park due to the park containing deer; the park remained closed for three months. On 19 September 2007, a suspected case of FMD was found in Solihull, where a temporary control zone was set up by Defra.
### Japan and Korea 2010–2011[edit]
Main articles: 2010 Japan foot-and-mouth outbreak and 2010–2011 South Korea foot-and-mouth outbreak
In April 2010, a report of three incursions of FMD in Japan and South Korea led the United Nations Food and Agriculture Organization (FAO) to issue a call for increased global surveillance. Japan veterinary authorities confirmed an outbreak of type O FMD virus, currently more common in Asian countries where FMD is endemic.
South Korea was hit by the rarer type A FMD in January, and then suffered type O infection in April.[52] The most serious case of foot-and-mouth outbreak in South Korea's history started in November 2010 in pig farms in Andong city of Gyeongsangbuk-do, and has since spread in the country rapidly.[53][54] More than 100 cases of the disease have been confirmed in the country so far,[53] and in January 2011, South Korean officials started a mass cull of approximately 12%, or around three million in total, of the entire domestic pig population, and 107,000 of three million cattle of the country to halt the outbreak.[53] According to the report based on complete 1D gene sequences, Korean serotype A virus was linked with those from Laos. Korean serotype O viruses were divided into three clades and were closely related to isolates from Japan, Thailand, the UK, France, Ireland, South Africa, and Singapore, as well as Laos.[55]
On 10 February 2011, North Korea reported an outbreak affecting pigs in the region around Pyongyang, by then ongoing since at least December 2010. Efforts to control the outbreak were hampered by illicit sales of infected meat.[56]
## History[edit]
The cause of FMD was first shown to be viral in 1897 by Friedrich Loeffler. He passed the blood of an infected animal through a Chamberland filter and found the collected fluid could still cause the disease in healthy animals.
Distribution of seven pools of foot-and mouth disease viruses
FMD occurs throughout much of the world, and while some countries have been free of FMD for some time, its wide host range and rapid spread represent cause for international concern. After World War II, the disease was widely distributed throughout the world. In 1996, endemic areas included Asia, Africa, and parts of South America; as of August 2007, Chile is disease-free,[57] and Uruguay and Argentina have not had an outbreak since 2001. In May 2014, the FAO informed that Bolivia, Colombia, Ecuador and Peru were "just one step away" from eradication;[58] North America and Australia have been free of FMD for many years. New Zealand has never had a case of foot-and-mouth disease.[59] Most European countries have been recognized as disease-free, and countries belonging to the European Union have stopped FMD vaccination.
However, in 2001, a serious outbreak of FMD in Britain resulted in the slaughter of many animals, the postponing of the general election for a month, and the cancellation of many sporting events and leisure activities, such as the Isle of Man TT. Due to strict government policies on sale of livestock, disinfection of all persons leaving and entering farms, and the cancellation of large events likely to be attended by farmers, a potentially economically disastrous epizootic was avoided in the Republic of Ireland,[citation needed] with just one case recorded in Proleek, Co. Louth. As one result, the Animal Health Act 2002 was designed by Parliament to provide the regulators with more powers to deal with FMD.[60][61]
In August 2007, FMD was found at two farms in Surrey, England. All livestock were culled and a quarantine erected over the area. Two other suspected outbreaks have occurred since, although these seem now not to be related to FMD. The only reported case in 2010 was a false alarm from GIS Alex Baker, as proven false by the Florida Farm and Agricultural Department, and quarantine/slaughter of cattle and pigs was confirmed from Miyazaki Prefecture in Japan in June after three cows tested positive. Some 270,000 cattle have been ordered slaughtered following the disease's outbreak.
## Society and culture[edit]
### Economic and ethical issues[edit]
Epidemics of FMD have resulted in the slaughter of millions of both infected and healthy animals, despite this being a frequently nonfatal disease for adult animals (2–5% mortality), though young animals can have a high mortality.[62] The 1997 Taiwan outbreak that affected only pigs also showed a high mortality for adults. The destruction of animals is primarily to halt further spread, as growth and milk production may be permanently affected, even in animals that have recovered. Due to international efforts to eradicate the disease, infection would also lead to trade bans being imposed on affected countries. Critics of current policies to cull herds argue that the financial imperative needs to be balanced against the killing of many, mostly healthy animals,[63] especially when a significant proportion of infected animals, most notably those producing milk, would recover from infection and live normal lives, albeit with reduced milk production. On the ethical side, one must also consider FMD is a painful disease for the affected animals.[64] The vesicles and blisters are painful in themselves, and restrict both eating and movement. Through ruptured blisters, the animal is at risk from secondary bacterial infections[64] and, in some cases, permanent disability.
## See also[edit]
* Viruses portal
* Animal virology
* Hand, foot and mouth disease (HFMD)
* Swine vesicular disease (SVD)
* Blain, an archaic disease of uncertain etiology
## References[edit]
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2. ^ Arzt, J.; Baxt, B.; Grubman, M. J.; Jackson, T.; Juleff, N.; Rhyan, J.; Rieder, E.; Waters, R.; Rodriguez, L. L. (2011). "The Pathogenesis of Foot-and-Mouth Disease II: Viral Pathways in Swine, Small Ruminants, and Wildlife; Myotropism, Chronic Syndromes, and Molecular Virus-Host Interactions". Transboundary and Emerging Diseases. 58 (4): 305–326. doi:10.1111/j.1865-1682.2011.01236.x. PMID 21672184.
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23. ^ Canadian Food Inspection Agency Q&A, question 20. "Archived copy". Archived from the original on 2007-10-12. Retrieved 2008-01-26.CS1 maint: archived copy as title (link)
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25. ^ a b "Foot and Mouth Disease". EDEN. 6 August 2009. Archived from the original on 2009-10-01. Retrieved 2009-08-24.
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29. ^ Ryan M. Alexander, Sons of the Mexican Revolution: Miguel Alemán and His Generation. Albuquerque: University of New Mexico Press 2016, p. 106.
30. ^ Manuel A. Machado, Jr. Aftosa: Historical Survey of Foot-and-Mouth Disease and Inter-American Relations. Albany: State University of New York Press 1969.
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## External links[edit]
Classification
D
* ICD-10: B08.8 (ILDS B08.820)
* ICD-9-CM: 078.4
* MeSH: D005536
* DiseasesDB: 31707
Wikimedia Commons has media related to Foot-and-mouth disease.
* FMD Myocarditis in Pigs
* Stenfeldt, C.; Pacheco, J. M.; Smoliga, G. R.; Bishop, E.; Pauszek, S. J.; Hartwig, E. J.; Rodriguez, L. L.; Arzt, J. (2014). "Detection of Foot-and-mouth Disease Virus RNA and Capsid Protein in Lymphoid Tissues of Convalescent Pigs Does Not Indicate Existence of a Carrier State". Transboundary and Emerging Diseases. 63 (2): 152–164. doi:10.1111/tbed.12235. PMID 24943477.
* Foot-and-Mouth Disease 12-part comprehensive overview from the Center for Infectious Disease Research and Policy
* FMD portal
* 2007 Outbreak Foot and Mouth Disease Timeline
* Armstrong R, Davie J, Hedger RS (1967). "Foot-and-mouth disease in man". Br Med J. 4 (5578): 529–30. doi:10.1136/bmj.4.5578.529. PMC 1749100. PMID 4294412.
* Current status of Foot and Mouth Disease worldwide at OIE. WAHID Interface—OIE World Animal Health Information Database
* Disease card
* The European Commission for the Control of Foot-and-Mouth Disease (EuFMD)
* Species Profile - Foot and Mouth Disease, National Invasive Species Information Center, United States National Agricultural Library.
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*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Foot-and-mouth disease | c0016514 | 28,407 | wikipedia | https://en.wikipedia.org/wiki/Foot-and-mouth_disease | 2021-01-18T19:08:30 | {"mesh": ["D005536"], "icd-9": ["078.4"], "icd-10": ["B08.8"], "wikidata": ["Q152401"]} |
Congenital fourth nerve palsy
Trochlear nerve
SpecialtyNeurology
For acquired fourth nerve palsy, see fourth nerve palsy.
Congenital fourth nerve palsy is a condition present at birth characterized by a vertical misalignment of the eyes due to a weakness or paralysis of the superior oblique muscle.
Other names for fourth nerve palsy include superior oblique palsy and trochlear nerve palsy.[1] When looking to the right/left the nerve/muscle isn't strong enough or is too long and the eye drifts up.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Though present from birth, symptoms of congenital fourth cranial nerve palsy may start as subtle and increase with age. Hence, diagnosis by a healthcare practitioner may not be made until later childhood or adulthood. Young children adopt a compensatory head position in order to compensate for the underacting superior oblique muscle, [2] or have a tendency to close one eye whilst reading.[3] The characteristic head tilt is usually away from the affected side to reduce eye strain and prevent double vision (diplopia). Old photographs may reveal the presence of a consistent head tilt (ocular torticollis) from an early age. Most people with congenital CN IV palsy have facial asymmetry due to the chronic head tilt. Other compensatory measures for congenital fourth nerve palsy are development of large vertical fusional amplitudes and lack of subjective symptoms of torsion, even in the presence of great ocular rotation.
Congenital fourth nerve palsy may remain undetected until adulthood, when intermittent diplopia may arise, due to decompensated ability to overcome the vertical deviation. Until this occurs, many ophthalmologists and optometrists may miss the other signs and symptoms. Reduced vertical fusional reserves result from fatigue (stress, fever, other illnesses, a lot of near work) or simply the effects of old age. Diplopia from congenital fourth nerve palsy has occasionally been reported to manifest transiently during pregnancy. Congenital fourth nerve palsy may also become evident following cataract surgery once binocular vision is restored after a long period of progressive monocular visual loss and accompanying vergence decompensation. People may complain of neck pain, after years of chronic head tilting (ocular torticollis), but this is also encountered in children.[4]
Congenital fourth nerve palsy can affect reading comprehension (and concentration during other near tasks) due to the increased vertical fusional demands and head tilting required to maintain single vision and prevent vertical diplopia. Some people find they lose their place easily while reading, and find a marker or using a finger to guide them helpful. A three step test is useful to determine whether the symptoms conform to the pattern of a fourth nerve palsy.[3]
## Causes[edit]
The cause of congenital fourth nerve palsy is unclear in most cases. It may be neurogenic in origin, due to a dysgenesis of the CN IV nucleus or nerve, but a clinically similar palsy may result from absence or mechanical dysfunction (e.g., abnormal laxity) of the superior oblique tendon. Usually unilateral, congenital fourth nerve palsies can also occur bilaterally. [5] Bilateral congenital fourth nerve palsy may be unmasked only after corrective surgery of one eye for what was thought to be a unilateral palsy.
## Pathophysiology[edit]
The fourth cranial nerve innervates the superior oblique muscle for each eye. The superior oblique muscle is one of the six extraocular muscles that allow movement of eye. Specifically, the superior oblique muscle primarily intorts the eye (such that the top of the eye rolls toward the nose), with secondary actions of depression (downgaze) and abduction (looking away from the nose). When this muscle’s function is diminished due to a fourth cranial nerve (CN IV) palsy, the affected eye will extort, deviate upward (hypertropia), and, to a smaller extent, drift inward.
## Treatment[edit]
Congenital fourth cranial nerve palsy can be treated with strabismus surgery, where muscle attachment sites on the globe are modified to realign the eyes. Some eye doctors prefer conservative or no management of congenital fourth nerve palsy. Other eye doctors recommend surgery early in a patient's life to prevent the compensatory torticollis and facial asymmetry that develop with age.
Prism lenses set to make minor optical changes in the vertical alignment may be prescribed instead of or after surgery to fine-tune the correction. Prism lenses do not address torsional misalignment and this may limit their use in certain cases. An additional consideration of prism lenses is that they must be worn at all times. Prism lenses reduce vertical fusional demands by allowing the eyes to rest in their vertically misaligned state. When they are removed the patient may experience vertical diplopia they find hard to resolve due to the rested state of their eyes.
Cases of congenital fourth nerve palsy vary in magnitude and way they affect the motion of the superior oblique muscle. Therefore different surgeries are available dependent upon the type of misalignment. Sometimes surgery on more than one eye muscle is required. In some simpler, unilateral cases a single surgery may suffice. In these cases the main problem is that the inferior oblique muscle of the same eye acts unopposed by the weakened superior oblique muscle, pulling the eye up. An example of a safe and effective procedure is a disinsertion of the inferior oblique muscle to allow it to reattach itself further down the globe of the eye. This acts to 'weaken' its action and allow the eye to move back into a more neutral alignment. [6]
In all cases of congenital fourth nerve palsy, it is important to see an experienced strabismologist about management/treatment options. A strabismologist is an ophthalmologist (eye doctor) specialising in eye movement disorders.
A Cochrane Systematic Review compared several surgical treatments (myectomy, recession, anterior transposition, disinsertion) in people with fourth nerve palsy.[7] While there was not enough high-quality evidence to recommend the best surgical treatment, all four types of surgery did result in a reduction of hypertropia.[7] One study comparing inferior oblique anterior transposition with disinsertion found that participants who underwent anterior transposition had a greater proportion of participants who had resolved head tilt, and a lesser proportion of participants requiring a second surgery, compared to disinsertion.[8][7] However, all participants who underwent anterior transposition developed elevation deficiency.[8][7]
## See also[edit]
* Eye movements
* Fourth nerve palsy
## References[edit]
1. ^ Sheil, Zafar (August 4, 2005). "Trochlear Nerve Palsy ( Fourth Nerve Palsy)". Medscape. WebMD LLC. Retrieved January 10, 2006.
2. ^ Myron Yanoff; Jay S. Duker (2004). Ophthalmology (2nd ed.). Elsevier Health Sciences. p. 1318. ISBN 0-323-07692-0.
3. ^ a b "Fourth Nerve Palsy". American Academy of Ophthalmology. Retrieved November 9, 2018.
4. ^ Boricean ID, Bărar A (2011). "Understanding ocular torticollis in children". Oftalmologia. 55 (1): 10–26. PMID 21774381.
5. ^ Joel S. Glaser (1999). Neuro-ophthalmology (3rd ed.). Lippincott Williams & Wilkins. pp. 413–15. ISBN 978-0-7817-1729-8.
6. ^ Mulvihill A, Murphy M, Lee JP (2000). "Disinsertion of the inferior oblique muscle for treatment of superior oblique paresis". J Pediatr Ophthalmol Strabismus. 37(5):279-82.
7. ^ a b c d Chang MY, Coleman AL, Tseng VL, Demer JL (November 2017). "Surgical interventions for vertical strabismus in superior oblique palsy". Cochrane Database Syst Rev. 11: CD012447. doi:10.1002/14651858.CD012447.pub2. PMC 5805462. PMID 29178265.
8. ^ a b Yanyali A, Elibol O, Talu H, Karabas L, Alp B, Caglar Y (June 2001). "A comparative study of the effectiveness of disinsertion and anterior transposition of the inferior oblique in the treatment of unilateral superior oblique palsy". Strabismus. 9 (2): 83–90. doi:10.1076/stra.9.2.83.702. PMID 11458297. S2CID 40468690.
## External links[edit]
Classification
D
* ICD-10: H49.1
* ICD-9-CM: 378.53
* MeSH: D020432
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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
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*[CZE]: Czech Republic
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*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital fourth nerve palsy | None | 28,408 | wikipedia | https://en.wikipedia.org/wiki/Congenital_fourth_nerve_palsy | 2021-01-18T18:32:18 | {"icd-9": ["378.53"], "icd-10": ["H49.1"], "orphanet": ["98686"], "synonyms": ["Congenital CNIV palsy", "Congenital fourth cranial nerve palsy", "Congenital superior oblique palsy"], "wikidata": ["Q5160431"]} |
Chorioangioma
Other namesPlacental hemangioma
Chorioangioma is a benign tumor of placenta. It is seen in approximately 0.5 to 1% pregnancies.[1] It is mostly diagnosed ultrasonically in the second trimester of pregnancy. Large chorioangiomas are known to cause complications in pregnancy, while the smaller ones are asymptomatic.
## Contents
* 1 Presentation
* 1.1 Complications
* 2 Pathogenesis
* 3 Diagnosis
* 4 Management
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
## Presentation[edit]
### Complications[edit]
Large or multiple chorioangiomas may lead to complications. The complications are polyhydramnios, preterm labour, hemolytic anemia, fetal cardiomegaly, fetal thrombocytopenia, intrauterine growth retardation, preeclampsia, abruption of placenta and congenital anomalies.[1][2]
## Pathogenesis[edit]
The origin of chorioangioma is from primitive chorionic mesenchyme. It develops when the blood vessels and stroma undergo rapid proliferation independent of the surrounding tissue. Based on histological features, chorioangioma is classified by Marchetti[3] into three types:[4]
* Cellular type : This type is immature and contains mostly cellular elements packed compactly.
* Angiomatous (vascular) type : This is the most common type of choriocarcinoma. It is distinguished by the presence of numerous small blood vessels.
* Degenerative type : This is the mature type with degenerative changes.
Each type is believed to represent a phase of tumor development. Chorioangioma has no malignant potential.
## Diagnosis[edit]
Most chorioangiomas are asymptomatic. They are generally picked up in second trimester scan. Chorioangioma is seen as a hypo- or hyperechoic circumscribed mass that is distinct from the placenta at gray-scale US examination. Large lesions may contain fibrous septa. It is seen protruding into the amniotic cavity near the insertion of the cord. Doppler examination shows anechoic cystic areas, with pulsatile flow in spectral analysis. Some chorioangiomas may be solid masses, and may not be identifiable in gray-scale imaging. Therefore, the investigation of choice is Colour Doppler, which also distinguishes it from placental hematoma.[4]
## Management[edit]
Expectant management is recommended for chorioangioma as majority of them are asymptomatic. Large tumors are monitored with ultrasonogram every 1–2 weeks. In case of maternal or foetal complications, possible interventions are serial foetal transfusions, fetoscopic laser coagulation of vessels supplying the tumor, endoscopic surgical devascularization and chemosclerosis using absolute alcohol.[4]
## Prognosis[edit]
Large chorioangiomas with decreased echogenicity, decreased tumor volume and decreased blood flow in colour doppler images are may undergo spontaneous infarction. When chorioangiomas have deceased blood flow, fetal hemodynamics and clinical outcome are found to be improved.[5]
## Epidemiology[edit]
It is the most common tumor of the placenta. Chorioangiomas over the size of 5 cm in diameter are rare, and occur at a rate of 1:3500 to 1:16,000 births.[6] Smaller chorioangiomas are more frequent, with an incidence of 14‑139:10,000 births.[7] However, many small chorioangiomas may not be sonologically visible and hence go unreported. In a clinical study, more than half of all tumors were discovered only by histological techniques.[2]
## History[edit]
Chorioangioma was first described by Clarke in 1798.
## References[edit]
1. ^ a b U, Ruman; TS, Chowdhury (July 2012). "Placental chorioangioma : A case report" (PDF). Birdem Medical Journal. 2 (2): 113–115. doi:10.3329/birdem.v2i2.12326. Retrieved 9 December 2016.
2. ^ a b Kodandapani, Sreelakshmi (2012). "Chorioangioma of Placenta: A Rare Placental Cause for Adverse Fetal Outcome". Case Reports in Obstetrics and Gynecology. 2: 913878. doi:10.1155/2012/913878. PMC 3384918. PMID 22754703.
3. ^ AA, Marchetti (1939). "A consideration of certain types of benign tumors of the placenta". Surgical Gynaecology and Obstetrics: 733–743.
4. ^ a b c Kirkpatrik, Aaron; Podberesky, Daniel (21 March 2007). "Placental chorioangioma". Radiographics. 27 (4): 1187–1190. doi:10.1148/rg.274065207. PMID 17620474.
5. ^ K, Kanenishi; T, Hata (2004). "Three-dimensional sonographic features of placental abnormalities". Gynaecological and Obstetric Investigations. 2: 61–65.
6. ^ UI, Esen; SU, Orife (1997). "Placental chorioangioma: a case report and literature review". British Journal of Clinical Practice. 3 (51): 181–182.
7. ^ H, Fox (1967). "Vascular tumors of the placenta". Obstetrical & Gynecological Survey. 22 (5): 697–711. doi:10.1097/00006254-196710000-00001. PMID 4863447.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Chorioangioma | c0677608 | 28,409 | wikipedia | https://en.wikipedia.org/wiki/Chorioangioma | 2021-01-18T19:03:25 | {"mesh": ["D006391"], "umls": ["C0677608"], "wikidata": ["Q28439851"]} |
Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Trigeminal trophic syndrome | c1274928 | 28,410 | gard | https://rarediseases.info.nih.gov/diseases/12856/trigeminal-trophic-syndrome | 2021-01-18T17:57:18 | {"synonyms": []} |
Diffuse gastric cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Diffuse gastric cancer | c0206696 | 28,411 | gard | https://rarediseases.info.nih.gov/diseases/10334/diffuse-gastric-cancer | 2021-01-18T18:00:52 | {"mesh": ["D018279"], "umls": ["C0206696"], "synonyms": ["Signet cell adenocarcinoma", "Signet ring gastric carcinoma", "Signet ring cell carcinoma", "Signet ring cell gastric carcinoma"]} |
A number sign (#) is used with this entry because Birt-Hogg-Dube syndrome (BHD), also known as Hornstein-Knickenberg syndrome, is caused by heterozygous mutation in the gene encoding folliculin (FLCN; 607273) on chromosome 17p11.
See also primary spontaneous pneumothorax (173600), an allelic disorder that may represent a milder part of the spectrum of the BHD syndrome.
Description
Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002).
BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340).
Clinical Features
Hornstein and Knickenberg (1975) first described this disorder as 'perifollicular fibromatosis cutis with polyps of the colon' in 2 sibs. Their father was reportedly similarly affected, indicating an inherited condition. The proband was a 47-year-old woman who developed multiple perifollicular fibromas and skin tags affecting the neck, face, back, axillae, and groin. The skin lesions were 2 to 4 mm in diameter, flat-topped, solid, and skin-colored. Most had a central pit or plug. Histologic analysis showed whorl-shaped connective tissue fibers surrounding atrophic sebaceous glands. She also was found to have several colonic polyps, one of which showed malignant degeneration. The brother had similar adult onset of the skin lesions, but refused gastrointestinal examination. The patients' father also had renal and lung cysts. The disorder was distinguished from Gardner syndrome (see 175100). Hornstein and Knickenberg (1975) suggested that patients with follicular fibromatosis be examined for intestinal polyps. Hornstein (1976) reviewed the condition in this family and considered the disorder a genodermatosis.
Birt et al. (1977) described fibrofolliculomas with trichodiscomas (see 190340) and acrochordons in a family. Onset of this dermatologic condition was invariably in adulthood. A central hair was often visible in the lesions. Hereditary medullary carcinoma of the thyroid was also segregating, apparently independently, in the kindred. In a sibship of 9, 6 had medullary carcinoma of the thyroid. Two of those with thyroid cancer and 2 without had numerous small papular skin lesions that Birt et al. (1977) labeled fibrofolliculoma. The lesion was characterized by abnormal hair follicles with epithelial strands extending from the infundibulum of the hair follicle into a hyperplastic mantle of specialized fibrous tissue. Associated skin lesions were trichodiscomas (tumor of the hair disc) and acrochordons ('wart with a thin neck;' skin tag).
Fujita et al. (1981) reported the cases of 2 brothers and the son of one of them. By history the father of the 2 brothers was considered affected. Clinically the disorder was characterized by asymptomatic dome-shaped papules primarily involving the head, neck, chest, back, and arms. Ubogy-Rainey et al. (1987) likewise reported a family with 3 affected: a mother and her daughter and son. They discussed the clinical differential diagnosis of multiple firm, skin-colored papules. They diagrammed the histogenesis of benign follicular neoplasms, indicating that trichodiscomas are derived from the mesenchymal component of the pilar complex, trichofolliculomas, trichodiscomas, and trichoepitheliomas from epithelial components, and fibrofolliculomas from both epithelial and mesenchymal proliferation. Shapiro and Kopf (1991) described a family in which a mother and son had multiple desmoplastic trichoepitheliomas. The grandmother had a single cylindroma of the scalp.
Rongioletti et al. (1989) and Le Guyadec et al. (1998) described association of Birt-Hogg-Dube syndrome with intestinal polyposis. Roth et al. (1993) observed bilateral renal cell carcinoma in association with BHD. Chung et al. (1996) described multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with BHD.
Toro et al. (1999) evaluated kindreds with familial renal tumors for cutaneous manifestations of BHD. They performed complete oral and skin examinations of 152 patients from 49 families. In this way, they identified 3 extended kindreds in whom renal neoplasms and BHD appeared to segregate together. Two kindreds had renal oncocytomas and a third had a variant of papillary renal cell carcinoma. Thirteen patients exhibited BHD. Seven individuals, including a set of identical twins, had renal neoplasms and BHD. An additional 4 patients (3 deceased and not examined) in these families had renal neoplasms but not BHD. BHD without renal neoplasms was present in 6 individuals. Thirteen patients with fibrofolliculomas and trichodiscomas presented clinically with multiple smooth skin-colored to grayish-white papules located on the face, auricles, neck, and upper trunk. Oral papules were present in 9 of 28 and acrochordons in 11 of 28 patients. Features of BHD not previously appreciated included deforming lipomas in 5, collagenomas in 4, and pulmonary cysts in 4 of 28 patients. Families with BHD did not display germline mutations in the von Hippel-Lindau gene (608537) or in the tyrosine kinase domain of the MET protooncogene (164860), which are known to be associated with renal neoplasms. The pedigree pattern was entirely consistent with autosomal dominant inheritance; for example, a father and both of his twin sons had renal tumor and BHD.
Weirich et al. (1998) described 5 families in which multiple members had multiple bilateral renal oncocytomas. On dermatologic examination, 13 members of 3 of these families were found to have cutaneous BHD lesions (Toro et al., 1999). Subsequently, through mass mailings to dermatologists, Schmidt et al. (2001) identified 33 families with BHD skin lesions and associated renal tumors, lung cysts, or pneumothorax, and/or colonic polyps, including the original Canadian family described by Birt et al. (1977). Zbar et al. (2002) showed that BHD confers an increased risk for the development of renal tumors and lung cysts or spontaneous pneumothorax but not for the development of colonic polyps.
Kidney cancer may be classified into 4 histologic types: clear cell (CCRC, 75%), papillary (PRC, 15%), oncocytoma (5%), and chromophobe (5%) (Kovacs et al., 1997). In a study of 130 renal tumors found in 30 BHD patients, the spectrum of renal histology included 34% chromophobe, 5% oncocytoma, 50% chromophobe/oncocytic hybrid, 9% clear cell, 2% papillary (Pavlovich et al., 2002).
Toro et al. (2008) reported the clinical features of 89 individuals from 51 families with BHD syndrome. Forty-six (90%) of 51 families had individuals with multiple fibrofolliculomas, and 26 (57%) of 46 BHD families had individuals with a second histologically confirmed cutaneous lesion, including angiofibroma, trichodiscoma, and perifollicular fibroma. Thirty (34%) of 89 individuals and 25 (49%) of 51 families had kidney tumours. Forty-five (88%) of 51 families and 75 (84%) of 89 individuals had lung cysts on CT imaging. Twenty-seven (53%) of 51 families and 34 (38%) of 89 individuals had a history of spontaneous pneumothorax, most often associated with lung cysts. Eighteen (58%) of 31 individuals with a family history of pneumothorax developed pneumothoraces compared to 16 (28%) of 57 individuals without family history (p = 0.011). Toro et al. (2008) noted inter- and intrafamilial phenotypic variation.
Kluijt et al. (2009) reported a large Dutch family with BHD syndrome confirmed by genetic analysis (607273.0015). The proband was a 27-year-old man with metastatic high-grade clear cell carcinoma of the kidney. His 32-year-old brother had high-grade papillary renal cell carcinoma, and a deceased sister of the maternal grandmother had a hybrid chromophobe/oncocytic renal carcinoma at age 71. She also had a history of recurrent pneumothorax. Six of 13 mutation carriers in the family who had a renal MRI scan showed unilateral or bilateral renal cysts; all were 55 years or older. Pneumothorax occurred in 8 mutation carriers at a relatively advanced age (third through sixth decades), and 5 had lung cysts and bullous lung disease. Eleven carriers had facial papules, most with onset after age 40. Kluijt et al. (2009) suggested that the relatively early age of renal cancer in some family members may be due to a modifier gene. Importantly, the clinical features of the family also illustrated that skin anomalies and/or lung disease are not mandatory for considering BHD in patients with renal cancer.
### Pathologic Findings
The Hornstein-Knickenberg syndrome had been thought to be characterized by perifollicular fibromas, whereas BHD was characterized by fibrofolliculomas and trichodiscomas. Schulz and Hartschuh (1999) reported a father and daughter with a diagnosis of BHD. Extensive histologic examination of papular skin lesions indicated that histologic differences between the skin lesions are artificial and caused by interpretation of different sectioning planes; thus, fibrofolliculoma, perifollicular fibroma, and so-called trichodiscoma are in fact the same lesion. Similarly, some think that acrochordons are in fact fibrofolliculomas (Happle, 2012).
Starink et al. (2012) favored use of the term 'discoid fibroma' rather than 'trichodiscoma,' and suggested that most lesions described as 'trichodiscoma' in BHD were in fact 'fibrofolliculomas.'
### Clinical Variability
Maffe et al. (2011) found FLCN mutations in 9 (47%) of 19 probands who presented initially with extracutaneous tumors suggestive of BHD syndrome, either a renal tumor or pneumothorax/lung cysts. Five (56%) of the 9 probands were found to have cutaneous hamartomas. Family history showed that 8 of the patients had affected relatives; however, 7 (44%) of 16 heterozygous relatives over the age of 20 years were asymptomatic. One patient had bilateral parotid oncocytomas, and tumor tissue showed loss of heterozygosity (LOH) for the wildtype FLCN allele. Maffe et al. (2011) noted that although most patients with BHD are ascertained on the basis of skin lesions, the diagnosis should be suspected in those who present with extracutaneous manifestations.
Inheritance
Birt et al. (1977) observed this disorder in 15 persons in 3 generations, with male-to-male transmission, consistent with autosomal dominant inheritance.
Mapping
Khoo et al. (2001) mapped the BHD locus by a genomewide linkage analysis using polymorphic microsatellite markers in a large Swedish family. They found evidence of linkage to chromosome 17p12-q11.2, with a maximum lod score of 3.58 for marker D17S1852. Further haplotype analysis defined a candidate interval of approximately 35 cM between the 2 flanking markers, D17S1791 and D17S798.
Schmidt et al. (2001) performed a genomewide scan in a large kindred with BHD and, by linkage analysis, localized the BHD locus to the pericentromeric region of 17p, with a lod score of 4.98 at D17S740 (recombination fraction = 0.0). Two-point linkage analysis of 8 additional families with BHD produced a maximum lod score of 16.06 at D17S2196. Haplotype analysis identified critical recombinants and defined the minimal region of nonrecombination as being within an interval of less than 4-cM between D17S1857 and D17S805. One additional family, which had histologically proved fibrofolliculomas, did not show evidence of linkage to 17p, suggesting genetic heterogeneity. The BHD locus lies within the chromosomal band 17p11.2, a genomic region that, because of the presence of low-copy number repeat elements, is unstable and is associated with a number of diseases.
Nickerson et al. (2002) narrowed the critical region for the BHD locus to a 700-kb segment on chromosome 17p11.2.
Molecular Genetics
By positional cloning, Nickerson et al. (2002) identified a novel gene (FLCN) in this region encoding a protein called folliculin. In several BHD families, they identified protein-truncating mutations in the FLCN gene (607273.0001-607273.0005). Nickerson et al. (2002) stated that their identification of this novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer could contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development.
Khoo et al. (2002) studied 4 sporadic BHD cases and 4 families with a total of 23 affected subjects. Haplotype analysis of these families using BHD-linked markers showed that they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified 2 germline mutations on exon 11 in 3 of 4 families as well as 2 of 4 sporadic cases. A novel somatic mutation was detected in a BHD-related chromophobe renal carcinoma.
Schmidt et al. (2005) performed direct sequencing of the BHD gene in 30 families with BHD and reported that combined with their previous data (Nickerson et al., 2002), they had identified germline BHD mutations in 51 (84%) of 61 families with BHD. Each family's mutation cosegregated with disease and was not found in at least 160 unaffected individuals. Of the 51 families with a germline BHD mutation, 27 (53%) had a cytosine insertion or deletion in the mononucleotide tract of 8 cytosines in exon 11 (1285insC, 607273.0001; 1285delC, 607273.0002, respectively), which appears to represent a mutation hotspot. Two large families with BHD, one of them the original family reported by Birt et al. (1977), showed linkage to 17p11.2 but had no mutation in the BHD gene by direct sequencing. Schmidt et al. (2005) noted that most reported mutations were predicted to terminate folliculin prematurely and to result in loss of function and suggested that BHD may act as a tumor suppressor gene.
In affected individuals from 51 (88%) of 58 families with BHD, Toro et al. (2008) identified 23 different mutations in the FLCN gene, including 13 novel mutations (see, e.g., 607273.0014). The 1285insC or 1285delC mutations were most common, occurring in 14 and 5 families, respectively. All mutations except one were predicted to result in a truncated protein. There were no apparent genotype/phenotype correlations.
Kunogi et al. (2010) screened the FLCN gene by DHPLC in 36 Japanese patients with multiple lung cysts of undetermined causes, all but 1 of whom had suffered at least 1 pneumothorax, and identified 13 different germline mutations in 23 of the patients, respectively. The remaining 13 patients were further analyzed by quantitative PCR, and large genomic deletions (see, e.g., 607273.0017) were found in 2; thus 25 (69.4%) of the 36 patients had germline FLCN mutations. Only 6 of the mutation-positive patients had skin lesions, and 2 others had renal tumors, 1 of which was an angiomyolipoma and the other a renal cancer (histopathologic information unavailable). Kunogi et al. (2010) noted that 13 (52%) of the 25 mutations were located in the 3-prime end of the FLCN gene, and that these Japanese patients with FLCN mutations had a very low incidence of skin and renal involvement.
Nomenclature
Happle (2012) noted that Hornstein and Knickenberg (1975) first described this disorder as 'perifollicular fibromatosis with polyps of the colon--a cutaneo-intestinal syndrome.' Since the designation 'Birt-Hogg-Dube syndrome' is entrenched in the medical literature, it is retained here as the preferred title; 'Hornstein-Knickenberg syndrome' is used here as an alternative title to give credit to the original authors.
Animal Model
Hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis (RCND) is a naturally occurring canine kidney cancer syndrome that was originally described in German shepherd dogs. Lingaas et al. (2003) narrowed the RCND interval to a small region on canine chromosome 5 that overlapped the human BHD gene. The authors described a his255-to-arg mutation in exon 7 of the canine Bhd gene that segregated with the disease phenotype.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Facial papules RESPIRATORY Lung \- Lung cysts (in about 80% of patients) \- Bullous disease \- Spontaneous pneumothorax (in about 30% of patients) ABDOMEN Gastrointestinal \- Colonic polyps \- Colorectal adenomas GENITOURINARY Kidneys \- Renal tumors (in about 27% of patients) \- Renal cysts SKIN, NAILS, & HAIR Skin \- Fibrofolliculomas \- Acrochordons (skin tag) Hair \- Trichodiscomas (tumor of the hair disc) NEOPLASIA \- Renal carcinoma \- Parotid oncocytomas \- Neural tissue tumors \- Lipomas \- Angiolipomas MISCELLANEOUS \- Features usually appear during adulthood \- Intrafamilial variability \- Mean age of presentation of renal cancer is 50 years, but earlier onset has been reported \- See also isolated pneumothorax ( 173600 ), an allelic disorder that may represent a mild form of the BHD syndrome MOLECULAR BASIS \- Caused by mutation in the folliculin gene (FLCN, 607273.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| BIRT-HOGG-DUBE SYNDROME | c0346010 | 28,412 | omim | https://www.omim.org/entry/135150 | 2019-09-22T16:41:12 | {"doid": ["0050676"], "mesh": ["D058249"], "omim": ["135150"], "orphanet": ["122"], "synonyms": ["Alternative titles", "HORNSTEIN-KNICKENBERG SYNDROME", "FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS"], "genereviews": ["NBK1522"]} |
Lymphohemangioma is a disease characterized by swelling of the lymph nodes and blood vessels. It is variously described as a "mixture of clear fluid and blood-filled cysts",[1] a mass of abnormal swollen veins and lymph nodes, or a tumorous growth of lymph and blood vessels. Oftentimes, it is described as a misnomer for combined lymphatic and capillary malformation.[citation needed] The lymphangiomas are known to be malformations of the lymph tissue, 75% of which is found near the head and neck. However, it can affect any region of the body. This disease is most commonly observed in children and male patients. In fact, Lymphangiomas account for 4% of all vascular tumors and 25% of the benign vascular tumors in children. Additionally, 50% of Lymphangiomas are noted at birth and become more evident by age 5.[2] Clinically, it presents itself as a soft painless swelling with compressible oral mucosa and is most commonly found within the tongue.[3]
## Contents
* 1 Signs and Symptoms
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Research
* 7 References
## Signs and Symptoms[edit]
* The main symptom for this disease is the appearance of the pigmented superficial vesicles on the surface of the skin, known as lymphangioma circumscriptum.[4] These are clusters of the vesicles that have formed into small and firm blisters, commonly found in the areas of the neck, shoulders, armpit, limbs, mouth, and tongue. There are different types of lymphangioma based on the size of the masses.[4]
* Macrocystic,[5] or lymphangiomas that are larger than 2 centimeters. Oftentimes, appear in blue-red pigmentation and spongey mass consistency.
* Microcystic,[6] or those vesicles that are smaller than 2 centimeters. They are known to grow or accumulate in clusters and appear to be in form of tiny blisters. Also, are referred to as capillary lymphangiomas.
* Symptoms, or complications, differ based on the location of the vesicles.[5]
* In the tongue, it is known to cause speech and eating difficulties.
* Lymphangioma within the eye socket, can cause double vision.
* Difficulty breathing and chest pain may occur if found within the chest.
* Other symptoms for this disease include:[7]
* Swelling
* Vomiting
* Fever and chills
* Blood-filled cysts behind the eye
## Mechanism[edit]
This disease is a result of a lymphatic malformation or abnormal development of they lymphatic system, also known as a lymphangiomia.[8] The underlying cause of this rare disease is unknown in many of the cases. However, various studies have been conducted in regards to the pathology of this disease. The pathologic process involves the collection of lymphatic cisterns within the deep subcutaneous layer of the skin.[2] These are separated from the fundamental network of lymph vessels. Communication between the superficial lymph vessels is achieved through dilated and vertical lymph channels. The malformation arises from when the primitive lymph sac is unable to connect with the rest of the lymphatic system during embryonic development.[2] This disruption leads to the production of a thick coat of muscle fibers that cause rhythmic contractions which increase the intramural pressure. The added pressure causes the dilated channels to extend from the deep walls of the cisterns outward to the skin. Findings from a study performed in 1976 by Whimster, suggested that the vesicles noted in lymphangioma are actually outpouchings of the dilated projected vessels.[2] This idea was furthermore supported by radiographic studies that displayed large multiobulated cisterns that lay deep into the dermis and beyond clinical lesions. These studies concluded that lymphangiomas display no evidence of communication with the rest of the normal lymphatics. Furthermore emphasizing the idea that the cause of this disease is a failure of primitive lymph sacs to connect with the lymphatic system.[2]
## Diagnosis[edit]
Diagnosis for this disease is most commonly performed through a physical examination. Usually, the presence of this condition is evident due to the characteristic of clinical appearance. However, a series of examinations can be ordered to confirm the diagnosis depending on the location of the masses.[5]
* Ultrasonography, can be ordered when the vessels are found on the superficial layer of the skin
* Computed tomography (CT) with a IV contrast enhancement can be used for those cystic lesions found on the deeper layers of the skin.
* Magnetic resonance imaging (MRI) is useful for the evaluation of complex vascular lesions that involve the lymphatic system and extremities.[9]
## Treatment[edit]
The treatment options for this disease vary depending on the size, location, and type of mass. Additionally, another factor that should be taken into consideration is whether or not the mass is causing symptoms.[6]
* Surgical excision is oftentimes used for the more superficial masses.
* Sclerotherapy is an alternative treatment, which involves injecting a chemical agent that causes the mass to shrink.
* Radiofrequency ablation (laser therapy) can be used for lymphangioma circumscriptum, or small blisters. This high frequency method is used to remove the masses by destroying the abnormal tissue. However, with time they can recur after removal.[7]
## Prognosis[edit]
The general outlook for people who have been diagnosed with this disease is considered to be good due to the fact that the masses are known to be benign and do not develop into cancer.[6] However, it can impact the quality of life of the individual based on the size and location of the mass.[10] Although, there are several treatment options known for this disease, the masses tend to regrow with time. It is estimated that between 50-100% of people who have a mass only partially removed will experience recurrence.[8]
## Research[edit]
This disease remains rare within our population, due to its low rate of incidence. However, it has remained a topic of research and interest for the past several decades.[11] It is recommended that these types of cases be managed by an interprofessional health team that includes a pediatrician, surgeon, dermatologist, and primary care provider.[12] Since this disease is fairly rare, patient education has been deemed of significant importance. Experts have emphasized that proper education can help making this disease easier to cope with. Patients should be aware of the associated complications of this disease such as lymphatic leaks and chronic wounds. Additionally, treatment options should be explained to patients as not all options ore effective.[12] The Lymphatic Education and Research Network in New York City, is an organization that has been established in order to provide support and improve the quality of life of those with the disease.[6] Lastly, current research is being targeted to a new apprach to treatment of rare pediatric Lymphangioma which involves the development of targeted therapy. This therapy would be implemented as a postoperative form of treatment. Targeted therapy would improve the prognosis of the lesions and recurrence rate for those with more aggressive or recurrent behavior.[13]
## References[edit]
1. ^ "Lymphohemangioma", Wikipedia, 2020-06-09, retrieved 2020-11-12
2. ^ a b c d e "Lymphangioma: Background, Pathophysiology, Etiology". 2020-04-06. Cite journal requires `|journal=` (help)
3. ^ "What does lymphohemangioma mean". findwords.info. Retrieved 2020-11-12.
4. ^ a b "Lymphangioma circumscriptum pathology | DermNet NZ". dermnetnz.org. Retrieved 2020-11-12.
5. ^ a b c "Lymphangioma: Symptoms, Outlook, Treatment, and More". Healthline. 2017-09-15. Retrieved 2020-11-12.
6. ^ a b c d "Microcystic lymphatic malformation | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-11-12.
7. ^ a b "Lymphangioma". MedStar Georgetown University Hospital. Retrieved 2020-11-12.
8. ^ a b "Lymphangioma: Diagnosis and treatment". www.medicalnewstoday.com. 2017-07-27. Retrieved 2020-11-12.
9. ^ "Lymphangioma". stanfordhealthcare.org. Retrieved 2020-11-12.
10. ^ "Lymphatic Malformations". NORD (National Organization for Rare Disorders). Retrieved 2020-11-12.
11. ^ Mao, Cui Ping; Jin, Yao Feng; Yang, Quan Xin; Zhang, Qiu Juan; Li, Xing Hua (January 2018). "Radiographic findings of hemolymphangioma in four patients: A case report". Oncology Letters. 15 (1): 69–74. doi:10.3892/ol.2017.7268. ISSN 1792-1074. PMC 5738683. PMID 29285187.
12. ^ a b Miceli, Alyssa; Stewart, Kristen M. (2020), "Lymphangioma", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29261940, retrieved 2020-11-12
13. ^ Heredea, Rodica; Cimpean, Anca M.; Cerbu, Simona; Popoiu, Calin M.; Jitariu, Adriana A.; Raica, Marius (2018). "New Approach to Rare Pediatric Multicystic Mesenteric Lymphangioma; Would It Guide the Development of Targeted Therapy?". Frontiers in Pediatrics. 6. doi:10.3389/fped.2018.00223. ISSN 2296-2360.
* v
* t
* e
Tumours of blood vessels
Blood vessel
* Hemangiosarcoma
* Blue rubber bleb nevus syndrome
* Hemangioendothelioma
* Composite
* Endovascular papillary
* Epithelioid
* Kaposiform
* Infantile
* Retiform)
* Spindle cell
* Proliferating angioendotheliomatosis
* Hemangiopericytoma
* Venous lake
* Kaposi's sarcoma
* African cutaneous
* African lymphadenopathic
* AIDS-associated
* Classic
* Immunosuppression-associated
* Hemangioblastoma
* Hemangioma
* Capillary
* Cavernous
* Glomeruloid
* Microvenular
* Targeted hemosiderotic
* Angioma
* Cherry
* Seriginosum
* Spider
* Tufted
* Universal angiomatosis
* Angiokeratoma
* of Mibelli
* Angiolipoma
* Pyogenic granuloma
Lymphatic
* Lymphangioma/lymphangiosarcoma
* Lymphangioma circumscriptum
* Acquired progressive lymphangioma
* PEComa
* Lymphangioleiomyomatosis
* Cystic hygroma
* Multifocal lymphangioendotheliomatosis
* Lymphangiomatosis
Either
* Angioma/angiosarcoma
* Angiofibroma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Lymphohemangioma | None | 28,413 | wikipedia | https://en.wikipedia.org/wiki/Lymphohemangioma | 2021-01-18T18:52:31 | {"wikidata": ["Q6708268"]} |
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Find sources: "Diabetic coma" – news · newspapers · books · scholar · JSTOR (June 2012) (Learn how and when to remove this template message)
Diabetic coma
SpecialtyEndocrinology
Diabetic coma is a reversible form of coma found in people with diabetes mellitus. It is a medical emergency.[1]
Three different types of diabetic coma are identified:
1. Severe low blood sugar in a diabetic person
2. Diabetic ketoacidosis (usually type 1) advanced enough to result in unconsciousness from a combination of a severely increased blood sugar level, dehydration and shock, and exhaustion
3. Hyperosmolar nonketotic coma (usually type 2) in which an extremely high blood sugar level and dehydration alone are sufficient to cause unconsciousness.
In most medical contexts, the term diabetic coma refers to the diagnostical dilemma posed when a physician is confronted with an unconscious patient about whom nothing is known except that they have diabetes. An example might be a physician working in an emergency department who receives an unconscious patient wearing a medical identification tag saying DIABETIC. Paramedics may be called to rescue an unconscious person by friends who identify them as diabetic. Brief descriptions of the three major conditions are followed by a discussion of the diagnostic process used to distinguish among them, as well as a few other conditions which must be considered.
An estimated 2 to 15 percent of people with diabetes will suffer from at least one episode of diabetic coma in their lifetimes as a result of severe hypoglycemia.[2]
## Contents
* 1 Types
* 1.1 Severe hypoglycemia
* 1.2 Advanced diabetic ketoacidosis
* 1.3 Nonketotic hyperosmolar coma
* 1.4 Identifying the cause
* 2 Treatment
* 3 References
* 4 External links
## Types[edit]
### Severe hypoglycemia[edit]
People with type 1 diabetes mellitus who must take insulin in full replacement doses are most vulnerable to episodes of hypoglycemia. It is usually mild enough to reverse by eating or drinking carbohydrates, but blood glucose occasionally can fall fast enough and low enough to produce unconsciousness before hypoglycemia can be recognized and reversed. Hypoglycemia can be severe enough to cause unconsciousness during sleep. Predisposing factors can include eating less than usual or prolonged exercise earlier in the day. Some people with diabetes can lose their ability to recognize the symptoms of early hypoglycemia.
Unconsciousness due to hypoglycemia can occur within 20 minutes to an hour after early symptoms and is not usually preceded by other illness or symptoms. Twitching or convulsions may occur. A person unconscious from hypoglycemia is usually pale, has a rapid heart beat, and is soaked in sweat: all signs of the adrenaline response to hypoglycemia. The individual is not usually dehydrated and breathing is normal or shallow. Their blood sugar level, measured by a glucose meter or laboratory measurement at the time of discovery, is usually low but not always severely, and in some cases may have already risen from the nadir that triggered the unconsciousness.
Unconsciousness due to hypoglycemia is treated by raising the blood glucose with intravenous glucose or injected glucagon.
### Advanced diabetic ketoacidosis[edit]
Diabetic ketoacidosis, if it progresses and worsens without treatment, can eventually cause unconsciousness, from a combination of a very high blood sugar level, dehydration and shock, and exhaustion. Coma only occurs at an advanced stage, usually after 36 hours or more of worsening vomiting and hyperventilation.
In the early to middle stages of ketoacidosis, patients are typically flushed and breathing rapidly and deeply, but visible dehydration, pale appearance from diminished perfusion, shallower breathing, and a fast heart rate are often present when coma is reached. However these features are variable and not always as described.
If the patient is known to have diabetes, the diagnosis of diabetic ketoacidosis is usually suspected from the appearance and a history of 1–2 days of vomiting. The diagnosis is confirmed when the usual blood chemistries in the emergency department reveal a high blood sugar level and severe metabolic acidosis.
Treatment of diabetic ketoacidosis consists of isotonic fluids to rapidly stabilize the circulation, continued intravenous saline with potassium and other electrolytes to replace deficits, insulin to reverse the ketoacidosis, and careful monitoring for complications.
### Nonketotic hyperosmolar coma[edit]
Nonketotic hyperosmolar coma usually develops more insidiously than diabetic ketoacidosis because the principal symptom is lethargy progressing to obtundation, rather than vomiting and an obvious illness. Extremely high blood sugar levels are accompanied by dehydration due to inadequate fluid intake. Coma occurs most often in patients who have type 2 or steroid diabetes and have an impaired ability to recognize thirst and drink. It is classically a nursing home condition but can occur in all ages.
The diagnosis is usually discovered when a chemistry screen performed because of obtundation reveals an extremely high blood sugar level (often above 1800 mg/dl (100 mM)) and dehydration. The treatment consists of insulin and gradual rehydration with intravenous fluids.
### Identifying the cause[edit]
Diabetic coma was a more significant diagnostic problem before the late 1970s, when glucose meters and rapid blood chemistry analyzers were not available in all hospitals. In modern medical practice, it rarely takes more than a few questions, a quick look, and a glucose meter to determine the cause of unconsciousness in a patient with diabetes. Laboratory confirmation can usually be obtained in half an hour or less. Other conditions that can cause unconsciousness in a person with diabetes are stroke, uremic encephalopathy, alcohol, drug overdose, head injury, or seizure.
Most patients do not reach the point of unconsciousness or coma in cases of diabetic hypoglycemia, diabetic ketoacidosis, or severe hyperosmolarity before a family member or caretaker seeks medical help.
## Treatment[edit]
Treatment depends upon the underlying cause:
* Hypoglycaemic diabetic coma: administration of the hormone glucagon to reverse the effects of insulin, or glucose given intravenously.
* Ketoacidotic diabetic coma: intravenous fluids, insulin and administration of potassium and sodium.
* Hyperosmolar diabetic coma: plenty of intravenous fluids, insulin, potassium and sodium given as soon as possible.
## References[edit]
1. ^ Richard S. Irwin; James M. Rippe (2008). Irwin and Rippe's intensive care medicine. Lippincott Williams & Wilkins. pp. 1256–. ISBN 978-0-7817-9153-3. Retrieved 20 November 2010.
2. ^ "Study: Glucose byproduct may prevent brain damage & impairment after diabetic coma". UCSF Medical Center. Retrieved 4 October 2020.
## External links[edit]
Classification
D
* ICD-10: E10.0, E11.0, E12.0, E13.0, E14.0
* ICD-9-CM: 250.2, 250.3
* MeSH: D003926
* SNOMED CT: 26298008
* v
* t
* e
Diabetes
Types
* Type 1
* Type 2
* LADA
* Gestational diabetes
* Diabetes and pregnancy
* Prediabetes
* Impaired fasting glucose
* Impaired glucose tolerance
* Insulin resistance
* KPD
* MODY
* Neonatal
* Transient
* Permanent
* Type 3c (pancreatogenic)
* Type 3
Blood tests
* Blood sugar level
* Glycosylated hemoglobin
* Glucose tolerance test
* Postprandial glucose test
* Fructosamine
* Glucose test
* C-peptide
* Noninvasive glucose monitor
* Insulin tolerance test
Management
* Diabetic diet
* Anti-diabetic drugs
* Insulin therapy
* intensive
* conventional
* pulsatile
* Cure
* Embryonic stem cells
* Artificial pancreas
* Other
* Gastric bypass surgery
Complications
* Diabetic comas
* Hypoglycemia
* Ketoacidosis
* Hyperosmolar hyperglycemic state
* Diabetic foot
* ulcer
* Neuropathic arthropathy
* Organs in diabetes
* Blood vessels
* Muscle
* Kidney
* Nerves
* Retina
* Heart
* Diabetic skin disease
* Diabetic dermopathy
* Diabetic bulla
* Diabetic cheiroarthropathy
* Neuropathic ulcer
* Hyperglycemia
* Hypoglycemia
Other
* Glossary of diabetes
* History of diabetes
* Notable people with type 1 diabetes
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Diabetic coma | c1263960 | 28,414 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_coma | 2021-01-18T19:07:40 | {"mesh": ["D003926"], "icd-9": ["250.3"], "icd-10": ["E10.0"], "wikidata": ["Q777717"]} |
Salivary gland hypoplasia is relative underdevelopment of the Salivary glands.[1] Salivary gland hypoplasia tends to produce xerostomia (dry mouth), with all the associated problems this brings.[1][2]
It is a rare condition,[2] which may occur as a congenital abnormality or result from lack of neuromuscular stimulation.[1]
It may be associated with Melkersson–Rosenthal syndrome,[1][2] and hereditary ectodermal dysplasia.[1]
## References[edit]
1. ^ a b c d e Purkait SK (1 June 2011). Essentials of Oral Pathology. JP Medical Ltd. pp. 199–200. ISBN 978-93-5025-214-7.
2. ^ a b c Pramod JR; Pramod J (25 February 2014). Textbook of Oral Medicine. JP Medical Ltd. p. 283. ISBN 978-93-5090-850-1.
* 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 disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Salivary gland hypoplasia | None | 28,415 | wikipedia | https://en.wikipedia.org/wiki/Salivary_gland_hypoplasia | 2021-01-18T18:42:10 | {"icd-10": ["K11.0"], "wikidata": ["Q25099297"]} |
Human disease
Breast hypertrophy
SpecialtyGynecology, endocrinology
Breast hypertrophy is a rare medical condition of the breast connective tissues in which the breasts become excessively large. The condition is often divided based on the severity into two types, macromastia and gigantomastia. Hypertrophy of the breast tissues may be caused by increased histologic sensitivity to certain hormones such as female sex hormones, prolactin, and growth factors.[1] Breast hypertrophy is a benign progressive enlargement, which can occur in both breasts (bilateral) or only in one breast (unilateral). It was first scientifically described in 1648.[2]
## Contents
* 1 Description and types
* 1.1 Virginal breast hypertrophy
* 1.2 Gestational breast hypertrophy
* 1.3 Other types of breast hypertrophy
* 2 Causes
* 3 Treatment
* 4 Society and culture
* 4.1 Difficulties
* 4.2 Medical insurance coverage
* 4.3 Reported instances
* 4.3.1 Gigantomastia
* 4.3.2 Virginal breast hypertrophy
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Description and types[edit]
The indication is a breast weight that exceeds approximately 3% of the total body weight.[3] There are varying definitions of what is considered to be excessive breast tissue, that is the expected breast tissue plus extraordinary breast tissue, ranging from as little as 0.6 kilograms (1.3 lb) up to 2.5 kilograms (5.5 lb) with most physicians defining macromastia as excessive tissue of over 1.5 kilograms (3.3 lb). Some resources distinguish between macromastia (Greek, macro: large, mastos: breast), where excessive tissue is less than 2.5 kg, and gigantomastia (Greek, gigantikos: giant), where excessive tissue is more than 2.5 kg.[4][5] The enlargement can cause muscular discomfort and over-stretching of the skin envelope, which can lead in some cases to ulceration.[6]
Hypertrophy of the breast can affect the breasts equally, but usually affects one breast more than the other, thereby causing asymmetry, when one breast is larger than the other. The condition can also individually affect the nipples and areola instead of or in addition to the entire breast. The effect can produce a minor size variation to an extremely large breast asymmetry. Breast hypertrophy is classified in one of five ways: as either pubertal (virginal hypertrophy), gestational (gravid macromastia), in adult women without any obvious cause, associated with penicillamine therapy, and associated with extreme obesity.[6] Many definitions of macromastia and gigantomastia are based on the term of "excessive breast tissue", and are therefore somewhat arbitrary.
A total of 115 cases of breast hypertrophy had been reported in the literature as of 2008.[7]
### Virginal breast hypertrophy[edit]
When gigantomastia occurs in young women during puberty, the medical condition is known as juvenile macromastia or juvenile gigantomastia and sometimes as virginal breast hypertrophy or virginal mammary hypertrophy. Along with the excessive breast size, other symptoms include red, itchy lesions and pain in the breasts. A diagnosis is made when an adolescent's breasts grow rapidly and achieve great weight, usually soon after her first menstrual period. Some doctors suggest that the rapid breast development occurs before the onset of menstruation.[8]
Some women with virginal breast hypertrophy experience breast growth at a steady rate for several years, after which the breasts rapidly develop exceeding normal growth. Some adolescent females experience minimal or negligible breast growth until their breasts suddenly grow very rapidly in a short period of time. This may cause considerable physical discomfort. Women suffering VBH often experience an excessive growth of their nipples as well. In severe cases of VBH, hypertrophy of the clitoris occurs.[citation needed]
At the onset of puberty, some females with who have experienced little or no breast development can reportedly reach three or more cup sizes within a few days (see below).[9]
As of 1992, 70 cases of virginal breast hypertrophy had been reported.[10]
### Gestational breast hypertrophy[edit]
This same effect can also occur at the onset of pregnancy or between the 16th to 20th week of gestation. When the swelling in the connective tissue occurs after birth, it can negatively impact long term milk supply.[9] The swelling increases with each subsequent pregnancy.
The extremely rapid growth of the breasts can result in intense heat. The woman's breasts can generate extraordinary discomfort, turning feverish, red, itchy, and even causing the skin to peel. The swelling can suppress the milk supply, pinching off the milk ducts, and leading to mastitis.[9]
Gestational gigantomastia is estimated to in 1 out of every 28,000 to 100,000 pregnancies.[11][12]
Breast size in women with gestational breast hypertrophy typically reverts to approximately pre-pregnancy size or near it after pregnancy and cessation of breastfeeding.[13][14][15] This is not always the case however and in some only partial reduction in breast size may occur, necessitating surgical breast reduction.[16][17]
### Other types of breast hypertrophy[edit]
Only 15% of cases of breast hypertrophy are unrelated to puberty or pregnancy.[18] Other types and causes of breast hypertrophy include idiopathic, drug-induced (e.g., penicillamine, cyclosporine, bucillamine), autoimmunity-associated, tumors, and syndromes.[18] Two case reports of prepubertal breast hypertrophy, both in infants, have been reported.[19][20][21]
## Causes[edit]
The underlying cause of the rapidly growing breast connective tissue, resulting in gigantic proportions, has not been well-elucidated. However, proposed factors have included increased levels/expression of or heightened sensitivity to certain hormones (e.g., estrogen, progesterone, and prolactin)[22] and/or growth factors (e.g., hepatic growth factor, insulin-like growth factor 1, and epidermal growth factor) in the breasts.[23][24] Macromastic breasts are reported to be composed mainly of adipose and fibrous tissue, while glandular tissue remains essentially stable.[25]
Macromastia occurs in approximately half of women with aromatase excess syndrome (a condition of hyperestrogenism).[26][27] Hyperprolactinemia has been reported as a cause of some cases of macromastia.[28][29] Macromastia has also been associated with hypercalcemia (which is thought to be due to excessive production of parathyroid hormone-related protein) and, rarely, systemic lupus erythematosus[25] and pseudoangiomatous stromal hyperplasia.[30] It is also notable that approximately two-thirds of women with macromastia are obese.[25] Aside from aromatase (as in aromatase excess syndrome), at least two other genetic mutations (one in PTEN) have been implicated in causing macromastia.[31][32]
A handful of drugs have been associated with gigantomastia, including penicillamine, bucillamine, neothetazone, ciclosporin, indinavir, and prednisolone.[25][33][34]
## Treatment[edit]
Medical treatment has not proven consistently effective. Medical regimens have included tamoxifen,[35] progesterone, bromocriptine, the gonadotropin-releasing hormone agonist leuprorelin, and testosterone. Gestational macromastia has been treated with breast reduction drugs alone without surgery.[36] Surgical therapy includes reduction mammaplasty and mastectomy.[37] However, breast reduction is not clinically indicated unless at least 1.8 kg (4 lb) of tissue per breast needs to be removed.[38] In the majority of cases of macromastia, surgery is medically unnecessary, depending on body height. Topical treatment includes regimens of ice to cool the breasts.[9]
Treatment of hyperprolactinemia-associated macromastia with D2 receptor agonists such as bromocriptine and cabergoline has been found to be effective in some, but not all cases.[39][40] Danazol, an antiestrogen and weak androgen, has also been found to be effective in the treatment of macromastia.[41]
When hypertrophy occurs in adolescence, noninvasive treatments, including pharmaceutical treatment, hormone therapy, and steroid use are not usually recommended due to known and unknown side effects. Once breast growth rate has stabilized, breast reduction may be an appropriate choice. In some instances after aggressive or surgical treatment, the breast may continue to grow or re-grow, a complete mastectomy may be recommended as a last resort.
Pregnancy is recognized as the second most common reason for hypertrophy. When secondary to pregnancy, it may resolve itself without treatment after the pregnancy ends.[13]
## Society and culture[edit]
### Difficulties[edit]
Extremely large breasts are a source of considerable attention.[42][43][44][45][citation needed] Some women try to hide or mask their breasts with special clothing, including minimizing bras. Women with this condition may be subject to psychological problems due to unwanted attention and/or harassment. Depression is common among sufferers.
In the case of a 12-year-old Japanese girl reported in 1993, her "massively enlarged" breasts caused her "intense psychological problems, incapacitating her in school activities and social relations."[46] Actress Soleil Moon Frye, who starred as a child in the sitcom Punky Brewster, reported in an interview with People magazine that boys taunted her, calling her "Hey, Punky Boobster!" It affected her professional and social life negatively. "People started to think of me as a bimbo," she said in the interview. "I couldn't sit up straight without people looking at me like I was a prostitute," Frye said.[47]
Finding large bra sizes and styles that fit is challenging. Also, larger bras are more costly, challenging to find, and unflattering to the wearer. Ill-fitting bras with narrow straps can cause chronic irritation, redness, and indentations in the shoulders. Skin rashes under the breasts are common, particularly during warm weather. Heavy breasts may cause headaches, neck pain, upper and lower back pain, and numbness or tingling in the fingers.
### Medical insurance coverage[edit]
Insurance companies in the United States typically require the physician to provide evidence that a woman's large breasts cause headaches or back and neck pain before they will pay for reduction mammoplasty. Insurance companies also mandate a woman who is overweight, which is often the case with gigantomastia, to first lose a certain amount of weight. They also commonly require the patient to try alternative treatments like physical therapy for a year or more.[48]
### Reported instances[edit]
#### Gigantomastia[edit]
The first recorded case of gigantomastia, diagnosed in a 23- or 24-year-old woman, circa 1670. In 1670, the physician Durston drew this illustration of first recorded case of non-gravid gigantomastia; the woman died of the condition.
One early and extreme case study of gigantomastia dates to 1670. The patient died four months after the onset of enlargement. One breast removed after the woman's death weighed 29 kg (64 lb).[49]
A painting by Lam Qua of Lu-shi, age 42, on April 17, 1848, prior to breast reduction surgery.
On April 17, 1848, a 42-year-old woman named Lu-shi was treated for hypertrophy in a Chinese hospital. She was treated by a missionary physician. On December 24, 1849, the left breast, measuring 67 cm (26.5 in) in circumference, and weighing 2.7 kg (6 lb), was removed in a procedure lasting three and a half minutes. The right breast was removed one month later. It measured 61 cm (24 in) in circumference and weighed 2.5 kg (5.5 lb).[50]
In 2005, a woman reported that her breasts grew at puberty from nothing to a C cup in one month. When she became pregnant for the first time, her breasts increased two cup sizes in a few days. Immediately after her first birth, her breasts grew three cup sizes. After her second child was born, her breasts increased six cup sizes. After her third childbirth, they grew 10 cup sizes, and after her fourth child was born, they grew nine cup sizes. In this instance, the swelling abated about 10 days after childbirth, but her bra cup size remained E to a G for the next year. About one year postpartum, her breasts rapidly atrophied to AA cup size.[9]
One of the most severe cases of macromastia was reported from Ilorin in Nigeria. In 2007, Dr Ganiyu Adebisi Rahman and his colleagues reported the case of a 26-year-old woman who presented with massive swelling of her breasts and bilateral axillary swellings of 6 years duration. Dr Rahman led a team of surgeons in Ilorin to perform a total bilateral excision of the hypertrophied axillary breasts, and bilateral breast amputation with composite nipple-areola complex graft of the normally located breasts. The total weight of the breast tissues removed was 44.8 kilograms.[51]
Another extreme case was observed in 2008 in Maria Vittoria Hospital in Turin, Italy, where the amount removed from both breasts was 17.2 kg (38 lb). The growth occurred during puberty making it a case of juvenile gigantomastia, but the patient did not seek treatment until the age of 29.[52] Another extreme case was observed on August 28, 2003, when a 24-year-old woman was admitted to the Clinical Center Skopje in Macedonia with gigantomastia of pregnancy and the amount later removed from both breasts was 15 kg (33 lb) in total.[53][54] A second case in Macedonia was reported when the breasts of a 30-year-old woman from a remote mountain village in eastern Macedonia suddenly grew to more than 30 kilograms (66 lb) total.[54]
As the disorder becomes more widely known, media reports have increased. French Canadian Isabelle Lanthier appeared on Montel Williams' talk show where she told how her chest grew from 86 cm (34 in) to 133 cm (52.5 in) in five months during her pregnancy. At their largest, one breast weighed 6.8 kg (15 lb) and the other 5.4 kg (12 lb). Her husband custom-made a special bra to support her breasts.
In 2007, a Chilean TV station covered the story of 32-year-old Yasna Galleguillos from Antofagasta, who experienced ongoing back pain, making everyday tasks very difficult to perform. She underwent breast reduction surgery to relieve her pain. Surgeons removed 4.25 kilograms (9.4 lb) from one breast and 3.33 kilograms (7.3 lb) from the other breast.[55]
On October 29, 2009, the Philippine television network GMA News and Public Affairs, producers of Wish Ko Lang ("Just My Wish") hosted by Vicky Morales, profiled the story of Pilma Cabrijas, a 30-year-old woman afflicted by gigantomastia. The woman was told by a folk healer that her condition may have been caused by a curse. The measured bust circumference without appropriate bra support was 160 cm (63 in). The weight of her breasts was not reported in detail, but seemed to weigh "as much as two children." She had breast reduction surgery performed, but her breasts regrew. The producers of Wish Ko Lang paid for additional surgery.[56]
#### Virginal breast hypertrophy[edit]
In 1993, the Japanese journal Surgery Today reported on the case of a 12-year-old girl. Only 152 centimetres (60 in) tall and weighing 43 kilograms (95 lb), her breasts began to develop at age 11 before the onset of menstruation. Over the next eight months, both breasts grew abnormally large, and physicians treating her found that her physiological development was normal except for her breasts. The weight produced by their symmetrical and massive enlargement resulted in marked curvature of the spine. Lab tests of her blood for hormones and biochemical substances showed normal values, though tests revealed that it might have been caused by hypersensitivity to estrogen. She underwent a bilateral reduction mammoplasty. Surgeons removed 2 kilograms (4.4 lb) of tissue from her right breast and 1.9 kilograms (4.2 lb) from her left breast. She was administered tamoxifen afterward to suppress breast regrowth.[46]
A more severe case of virginal breast hypertrophy of an 11-year-old girl was reported in 2008. The breasts had begun to grow rapidly at puberty and had reached the point of causing physical impairment and respiratory compromise after one year. The skin was intact without any ulcerations. Blood chemistry and endocrine investigation was normal. A bilateral reduction mammaplasty with free nipple grafts was performed. Six kg of the right breast and 6.5 kg of the left breast were removed, resulting in a removal of 12.5 kg of tissue in all (24% of the total body weight).[57]
## See also[edit]
* Mammoplasia
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## Further reading[edit]
* Touraine, P. (2005). "Breast Inflammatory Gigantomastia in a Context of Immune-Mediated Diseases". Journal of Clinical Endocrinology & Metabolism. 90 (9): 5287–5294. doi:10.1210/jc.2005-0642. PMID 15972574.
* Oladele, AO; Olabanji, JK; Alabi, GH (2007). "Reduction mammoplasty: The experience in Ile-Ife, Nigeria". Nigerian Journal of Medicine : Journal of the National Association of Resident Doctors of Nigeria. 16 (3): 261–267. PMID 17937167.
* Netscher, David T.; Mosharrafa, ALI M.; Laucirica, Rodolfo (1996). "Massive Asymmetric Virginal Breast Hypertrophy". Southern Medical Journal. 89 (4): 434–7. doi:10.1097/00007611-199604000-00019. PMID 8614890.
* U.S.A. Library of Congress - Healthy Breasts: A Primer
* John Blair Deaver (1917). The Breast: Its Anomalies, Its Diseases, and Their Treatment. P. Blakiston's Son & Co. p. 102.
* Joseph, Jacques (1987). Rhinoplasty and facial plastic surgery with a supplement on mammaplasty and other operations in the field of plastic surgery of the body: an atlas and textbook. Phoenix: Columella Press. p. 755. ISBN 0-9605972-1-2.
* Plummer, Samuel C.; Bump, Warner S. (1927). "Massive Hypertrophy of the Breasts". Annals of Surgery. 85 (1): 61–6. doi:10.1097/00000658-192701000-00008. PMC 1399262. PMID 17865606.
* Warren, John Collins (1900). The International text-book of surgery. Volume II. Saunders. p. 234.
* Erichsen, John Eric (1885). The Science and art of surgery. Vol. II. H. C. Lea's Son & Company. pp. 693–694.
* Ochsner, Albert John (1921). Surgical Diagnosis and Treatment: By American Authors. Lea & Febiger. p. 147.
## External links[edit]
* Media related to Hypertrophy of breast at Wikimedia Commons
Classification
D
* ICD-10: N62
* ICD-9-CM: 611.1
* DiseasesDB: 1628
* 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]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Breast hypertrophy | c0020565 | 28,416 | wikipedia | https://en.wikipedia.org/wiki/Breast_hypertrophy | 2021-01-18T19:08:14 | {"gard": ["9450"], "umls": ["C0020565"], "wikidata": ["Q924002"]} |
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
## Epidemiology
The overall prevalence of PC deficiency is not known and annual incidence has been reported to be 1/250,000 births. The disorder affects males and females equally.
## Clinical description
Three clinical presentations of PC deficiency, probably constituting a continuum, have been described: infantile PC deficiency (type A); severe neonatal PC deficiency (type B); and intermittent/benign PC deficiency (type C). The only common feature is metabolic acidosis. Type A is characterized by infantile onset, generally with a severe course. Type B has a very severe course with a fatal outcome in early infancy, and Type C involves only episodic metabolic acidosis.
## Etiology
PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5), involved in the conversion of pyruvate to oxaloacetate, an intermediate in the citric acid cycle and gluconeogenesis. Pyruvate carboxylase also participates in a wide range of other metabolic processes. Most cases are familial but some de novo mutations have been reported. Genotype-phenotype correlations have not been clearly established but missense mutations appear to be associated with infantile PC deficiency (Type A), while truncating mutations are more common in patients with the severe neonatal form (Type B).
## Diagnostic methods
PC deficiency may be suspected in patients with the non-specific clinical signs of the condition. Diagnosis is based on detection of characteristic laboratory test abnormalities in amino acid, organic acid, glucose, and ammonia serum concentrations. A PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
## Differential diagnosis
Several inborn errors of metabolism have certain features similar to those of PC deficiency. Similar disorders to consider in the differential diagnosis include biotinidase deficiency, holocarboxylase synthase deficiency, pyruvate dehydrogenase deficiency, as well as respiratory chain disorders, tricarboxylic acid cycle disorder, and gluconeogenic defects.
## Antenatal diagnosis
Prenatal testing for pregnancies at increased risk is possible and requires identification of both disease-causing alleles in an affected family member.
## Genetic counseling
PC deficiency follows an autosomal recessive pattern of inheritance. Genetic counseling should be provided to affected families, particularly regarding the risk of recurrence in subsequent pregnancies.
## Management and treatment
The aim of treatment is to provide alternative energy sources and to correct acute metabolic acidosis. Other management and treatment options depend on the type of PC deficiency. Current symptomatic and supportive treatments are generally ineffective.
## Prognosis
Type A patients usually die in infancy or early childhood. Type B most commonly has a fatal outcome within the first three months of life. Type C is mostly a benign form of the disorder with little or no effect on life-expectancy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pyruvate carboxylase deficiency | c0034341 | 28,417 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3008 | 2021-01-23T18:08:46 | {"gard": ["7512"], "mesh": ["D015324"], "omim": ["266150"], "umls": ["C0034341", "C2931141"], "icd-10": ["E74.4"], "synonyms": ["Ataxia with lactic acidosis type 2", "Ataxia with lactic acidosis type II", "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency", "Leigh syndrome due to PC deficiency", "Leigh syndrome due to pyruvate carboxylase deficiency"]} |
A number sign (#) is used with this entry because hypogonadotropic hypogonadism-3 with or without anosmia (HH3) is caused by heterozygous mutation in the G protein-coupled prokineticin receptor-2 gene (PROKR2; 607123) on chromosome 20p12, sometimes in association with mutation in another gene, e.g., KAL1 (300836).
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see 147950.
Molecular Genetics
In a study of 192 patients with Kallmann syndrome, Dode et al. (2006) identified 10 and 4 different point mutations in the PROKR2 gene (e.g., 607123.0001-607123.0005) and in one of its ligands, prokineticin-2 (PROK2; 607002), respectively. One of the patients was heterozygous for a PROKR2 mutation (607123.0001) and a missense mutation in KAL1 (300836.0012), indicating possible digenic inheritance of the disorder.
In a cohort of 324 IHH patients, 170 of whom were anosmic and 154 normosmic, Cole et al. (2008) analyzed the PROKR2 and PROK2 genes and identified 10 and 5 different point mutations, respectively. All 10 mutations in PROKR2 were heterozygous (see, e.g., 607123.0001 and 607123.0006-607123.0009); 1 of the probands (see 607123.0007) also carried a heterozygous mutation in PROK2 (607002.0005). Of the 11 probands with a mutation in PROKR2, 7 had Kallmann syndrome and 4 had normosmic IHH. Two of the probands underwent partial puberty, 1 of whom experienced reversal of his hypogonadism later in life after discontinuation of sex steroid therapy (see 607123.0009). The mutation-positive probands were screened for mutations in other HH-associated genes, including KAL1 (300836), FGFR1 (136350), KISS1R (604161), NELF (608137), and GNRHR (138850), but no additional mutations were detected. All mutant alleles appeared to decrease intracellular calcium mobilization; some also exhibited decreased MAPK signaling and decreased receptor expression. Cole et al. (2008) concluded that loss-of-function mutations in PROKR2 can cause both Kallmann syndrome and normosmic IHH.
### Possible Association with Functional Hypothalamic Amenorrhea in Carrier Females
Caronia et al. (2011) studied 55 women with functional hypothalamic amenorrhea, who had all completed puberty spontaneously and had a history of secondary amenorrhea for 6 months or more, with low or normal gonadotropin levels and low serum estradiol levels. All had 1 or more predisposing factors, including excessive exercise, loss of more than 15% of body weight, and/or a subclinical eating disorder, and all had normal results on neuroimaging. The authors screened 7 HH-associated genes in the 55 affected women and identified 7 patients from 6 families who carried heterozygous mutations, including 1 in KAL1, 2 in FGFR1, 2 in PROKR2, and 1 in the GNRHR gene. Since these women with mutations resumed regular menses after discontinuing hormone-replacement therapy, Caronia et al. (2011) concluded that the genetic component of hypothalamic amenorrhea predisposes patients to, but is not sufficient to cause, GnRH deficiency.
Genotype/Phenotype Correlations
Dode et al. (2006) noted that Kallmann syndrome patients with mutations in PROKR2 or PROK2 had variable degrees of olfactory and reproductive dysfunction and did not seem to have any of the occasional clinical anomalies that had been reported in previously characterized genetic forms of the disease, i.e., bimanual synkinesis, renal agenesis, dental agenesis, and cleft lip or palate.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss (rare) Nose \- Hyposmia/anosmia (in some patients) CHEST External Features \- Pectus excavatum Breasts \- Delayed or absent thelarche GENITOURINARY External Genitalia (Male) \- Micropenis \- Cryptorchidism Internal Genitalia (Female) \- Primary amenorrhea SKELETAL Hands \- Hyperlaxity of digits (rare) Feet \- Pes planus MUSCLE, SOFT TISSUES \- Fibrous dysplasia (rare) NEUROLOGIC Central Nervous System \- Synkinesia \- Seizures (rare) ENDOCRINE FEATURES \- Hypogonadotropic hypogonadism \- Delayed or absent puberty \- Low to undetectable gonadotropin levels \- Low testosterone level \- Low estradiol level MISCELLANEOUS \- Incomplete penetrance \- Some patients experience later reversal of hypogonadotropic hypogonadism \- Phenotype may be oligogenic in some patients who carry mutations in more than one HH-associated gene MOLECULAR BASIS \- Caused by mutation in the prokineticin receptor-2 gene (PROKR2, 607123.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA | c0162809 | 28,418 | omim | https://www.omim.org/entry/244200 | 2019-09-22T16:26:09 | {"doid": ["0090092"], "mesh": ["D017436"], "omim": ["244200"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
Macular corneal dystrophy
Colloidal iron staining shows deposition of glycosaminoglycans in the cornea
SpecialtyOphthalmology
Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Signs and symptoms[edit]
Onset occurs in the first decade, usually between ages 5 and 9. The disorder is progressive, vision changes with ageing from 2nd decade to 3rd visual impairment may seen in 4th and 5th decade severe visual impairment can be seen Minute, gray, punctate opacities develop. Corneal sensitivity is usually reduced. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there.[3]
## Genetics[edit]
Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal configuration of keratan sulfate. Most cases of MCD are caused by mutations in CHST6 gene.[4]
The gene CHST6 is a carbohydrate sulfotransferase encoding an enzyme designated corneal N-acetylglucosamine-6-sulfotransferase. In MCD type I, various mutations lead to inactivation of the enzyme, in MCD type II, inactivation is caused by large deletions and/or replacements in the gene.[3]
## Treatment[edit]
Corneal transplantation is often required.
## See also[edit]
* Corneal dystrophy
## References[edit]
1. ^ Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkunde. 1890;21:281–289.
2. ^ Natalie Afshari (2018-10-05). "Macular corneal dystrophy". eMedicine. Cite journal requires `|journal=` (help)
3. ^ a b Online Mendelian Inheritance in Man (OMIM): 217800
4. ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.
## External links[edit]
Classification
D
* ICD-10: Xxx.x
* ICD-9-CM: xxx
* v
* t
* e
Types of corneal dystrophy
Epithelial and subepithelial
* Epithelial basement membrane dystrophy
* Gelatinous drop-like corneal dystrophy
* Lisch epithelial corneal dystrophy
* Meesmann corneal dystrophy
* Subepithelial mucinous corneal dystrophy
Bowman's membrane
* Reis–Bucklers corneal dystrophy
* Thiel-Behnke dystrophy
Stroma
* Congenital stromal corneal dystrophy
* Fleck corneal dystrophy
* Granular corneal dystrophy
* Lattice corneal dystrophy
* Macular corneal dystrophy
* Posterior amorphous corneal dystrophy
* Schnyder crystalline corneal dystrophy
Descemet's membrane and
endothelial
* Congenital hereditary endothelial dystrophy
* Fuchs' dystrophy
* Posterior polymorphous corneal dystrophy
* X-linked endothelial corneal dystrophy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Macular corneal dystrophy | c0024439 | 28,419 | wikipedia | https://en.wikipedia.org/wiki/Macular_corneal_dystrophy | 2021-01-18T18:56:35 | {"mesh": ["D003317"], "umls": ["C0024439"], "orphanet": ["98969"], "wikidata": ["Q4385926"]} |
A number sign (#) is used with this entry because of evidence that hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by heterozygous mutation in the CTBP1 gene (602618) on chromosome 4p16.
Clinical Features
Beck et al. (2016) reported 4 unrelated patients, ranging in age from 8 to 20 years, with a similar complex neurodevelopmental disorder. The patients had hypotonia and variably delayed motor development: 2 patients were nonambulatory at ages 12 and 20 years, whereas the others learned to walk in the first years of life but had an ataxic gait. All had early language delay, but 1 child (patient 3) had normal speech and no intellectual disability at age 9 years. The other 3 patients had moderate to severe intellectual disability and feeding difficulties necessitating feeding tube placement. Muscle biopsies showed nonspecific dystrophic or inflammatory changes. All patients had enamel defects of the teeth, including soft enamel with tooth discoloration. Dysmorphic features were not prominent, although 1 patient had a highly arched palate and retrognathia, and another had frontal bossing and deep-set eyes. Brain imaging showed mild cerebellar atrophy in 2 patients but was normal in the other 2.
Molecular Genetics
In 4 unrelated patients with HADDTS, Beck et al. (2016) identified a de novo heterozygous missense mutation in the CTBP1 gene (R331W; 602618.0001). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. One patient (patient 1) was maternally somatic mosaic for the mutation; his mother, who carried a low mutation load (5.3%), was phenotypically normal with no neurologic features. Functional studies of the variant and studies of patient cells were not performed, but the authors postulated a dominant-negative effect. The patients were part of a cohort of 5,471 trios containing probands with neurodevelopmental disorders who underwent whole-exome sequencing.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Dysmorphic features (in some patients) \- Frontal bossing \- Retrognathia Eyes \- Deep-set eyes Mouth \- High-arched palate Teeth \- Enamel defects \- Soft enamel \- Discolored teeth ABDOMEN Gastrointestinal \- Feeding difficulties MUSCLE, SOFT TISSUES \- Hypotonia \- Nonspecific dystrophic changes NEUROLOGIC Central Nervous System \- Delayed motor development \- Ataxic gait \- Inability to walk \- Intellectual disability, variable (in some patients) \- Speech delay \- Cerebellar atrophy (in some patients) MISCELLANEOUS \- Variable phenotype \- Four unrelated patients have been reported (last curated March 2018) MOLECULAR BASIS \- Caused by mutation in the C-terminal-binding protein 1 gene (CTBP1, 602618.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | c4693578 | 28,420 | omim | https://www.omim.org/entry/617915 | 2019-09-22T15:44:26 | {"omim": ["617915"]} |
Dural tear
SpecialtyNeurology
Dural tear is a tear occurring in the dura mater of the brain. It is usually caused as a result of trauma or as a complication following surgery.[1]
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 References
## Diagnosis[edit]
In case of head injury, a dural tear is likely in case of a depressed skull fracture. A burr hole is made through the normal skull near the fractured portion, and Adson's elevator is introduced. Underlying dura is separated carefully from the overlying depressed bone fragments. The dura that is now visible is carefully examined to exclude any dural tear.
## Treatment[edit]
The whole extent of the dural tear is exposed by removing the overlying skull. The ragged edges of the tear are excised. However, care should be taken not to excise too much dura as it may increase the chances for spread of infection into the subarachnoid space. Removing too much dura will also make it difficult to close the tear. If there is not much dural loss, interrupted sutures are made with non-absorbable material. In case of dural loss, the defect is closed using a transplant from fascia lata or pericranium given that there is not much contamination of the dura. In case of contamination, the defect is left alone and a primary suture is performed at a later date.
If dural tear is associated with haemorrhage from dural vessels, they are coagulated using diathermy. This technique is preferred because the vessels are too small to be picked up by an artery forceps. Large vessels, if present, can be under-run with suture. When the dural tear is associated with a dural sinus hemorrhage, a graft of pericranium is used for a small tear and a muscle graft from temporalis is used for a large tear. The muscle graft is flattened by hammering before using it for grafting.
If dural tear is associated with a brain injury, wide exposure of the wound is done to examine the extent of brain damage. All devitalized brain tissues are removed along with extravasated blood, foreign bodies and pieces of bone. All devitalized tissue and foreign bodies are removed by a combination of irrigation and suction.
Following dural repair, skull deficit is treated by using moulded tantalum plates or acrylic inlays, three to six months after the head injury.[2]
## References[edit]
1. ^ Wolff, S.; Kheirredine, W.; Riouallon, G. (December 2012). "Surgical dural tears: Prevalence and updated management protocol based on 1359 lumbar vertebra interventions". Orthopaedics & Traumatology: Surgery & Research. 98 (8): 879–886. doi:10.1016/j.otsr.2012.06.016. PMID 23158786.
2. ^ Das, S (2008). A Concise Textbook of Surgery (9 ed.). New Delhi. pp. 392–3. ISBN 9788190568128. OCLC 729235461.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dural tear | c1504340 | 28,421 | wikipedia | https://en.wikipedia.org/wiki/Dural_tear | 2021-01-18T19:03:51 | {"umls": ["C1504340"], "wikidata": ["Q55610136"]} |
Not to be confused with Allergy to dogs.
Dogs are susceptible to allergies much like their human companions. Most allergies occur in dogs over 6 months old. A dog that is repeatedly exposed to a particular allergen becomes sensitized to it, and the immune system overreacts to a subsequent exposure, most commonly manifesting in the form of skin irritation.[1] Some of the signs are redness, itching, hair loss, and recurring skin infections from the irritation. Skin irritation may be generalized (all over) or localized (isolated to one or more specific areas). The dog may be more prone to scratching and licking at the irritated site, further exacerbating the problem.
Other common signs of allergies include coughing, sneezing, wheezing, ocular and nasal discharge, vomiting, diarrhea, and licking of the paws. [1]
While it may be possible to identify the cause of an allergic response, it is best to seek attention from a veterinarian to identify the best treatment possible. [2] To identify the specific allergens to which the dog is sensitive, veterinarians will commonly use a serum allergy test or a skin allergy test. Veterinarians may recommend either over the counter Benadryl without added decongestant or Zyrtec to alleviate clinical signs. If the allergy is more severe, allergy immunotherapy may be recommended.[3]
There are a number of different kinds of allergies from which dogs may suffer. They may be gut-induced, skin-induced, and respiratory-induced.[4]
## Contents
* 1 Allergies
* 1.1 Gut-induced allergies
* 1.2 Skin-induced allergies
* 1.2.1 Flea allergy dermatitis
* 1.2.2 Bacterial hypersensitivity
* 1.2.3 Contact allergies
* 1.3 Respiratory-induced allergies
* 1.3.1 Atopy
* 2 See also
* 3 References
## Allergies[edit]
### Gut-induced allergies[edit]
Gut-induced allergies, or food allergies, are common health concerns. They may be induced by an allergic reaction to the preservatives or artificial coloring used in commercial dog foods, or they may be triggered by the intact protein source used in the food.[5] Protein sources that commonly offend include beef, soy, chicken, and turkey.[6]
Clinical signs of gut-induced allergies include the presence of rashes, itchy or tender skin, gastrointestinal upsets like vomiting and diarrhea, and swelling.[6]
Dogs with sensitivities to food that contain these common proteins may benefit from food that contains a novel protein source. A novel protein is any protein not commonly used in dog food, such as elk, rabbit, or bison. [7] Novel protein diets make up the majority of hypoallergenic dog food diets.
### Skin-induced allergies[edit]
#### Flea allergy dermatitis[edit]
Main article: Flea allergy dermatitis
Dog with flea allergy dermatitis and secondary folliculitis
Flea allergy dermatitis is caused by the bite of a flea. The primary cause is due to the flea's saliva that is injected into the feeding site, triggering an immune response in the dog. This may include redness of the skin and pruritus, causing the dog to scratch, bite, and lick parts of the body, most commonly the base of the tail, abdomen, and head. A dog may find it soothing to be bathed in cool water with a shampoo designed for flea treatment. If the dog has self-mutilated by chewing or scratching, antibiotics may be needed, depending on the severity of the problem.[8]
#### Bacterial hypersensitivity[edit]
Bacterial hypersensitivity is caused by an exaggerated immune system response to the natural flora normally found on the skin, like Staphylococcus bacteria. It may be identified by red blotches, pus pockets, hair loss and a skin formation that looks like ringworm, called epidermal collarettes. Typically, bacterial allergies are secondary to other problems the dog may have, such as parasitism or hormonal disorders.[9]
#### Contact allergies[edit]
Contact allergies are the least common type of allergies. It results from direct contact with the allergen. The signs of contact allergies are very similar to those of flea allergies - skin irritation at the point of contact and itching. Sources of allergens include, but are not limited to, the synthetic materials in bedding, plants, pesticides, or household cleaning products.[10] Removing the source of the allergen is usually sufficient in solving the problem.[1]
### Respiratory-induced allergies[edit]
#### Atopy[edit]
Atopy is synonymous with "inhalant allergy."[1] It manifests as a condition called atopic dermatitis, which is characterized by itching, biting, hair loss and face rubbing. Other signs may be the presence of papules, which are small red bumps, or pustules, which are small pimple-like lesions. Atopy is a genetic disorder that predisposes the immune system of a dog to react to tree pollens, grass pollens, weed pollens, molds, mildew, and house dust mites, and can also be caused by exposure to chemical irritants, like common household products.[11][1] Dogs will often have reactions to multiple allergens and may also experience concurrent flea or food allergies. Certain breeds are prone to atopic dermatitis, like Golden Retrievers, Irish Setters, Lhasa Apsos, Dalmatians, Bulldogs, and Old English Sheepdogs.[12]
Treatment methods include special shampoos, prescribed oral steroids, oral cyclosporines, and natural treatments like administration of omega-3 fatty acids. Desensitization therapy, involving the repetitive administration of allergy injection serum, may help desensitize the immune system to that particular allergen. [1]
## See also[edit]
Hypoallergenic dog food
## References[edit]
1. ^ a b c d e f "Allergies in Dogs". vca_corporate. Retrieved 2019-08-06.
2. ^ Shawn Messonnier (July 6, 2000). The Allergy Solution for Dogs: 1–10
3. ^ http://www.dogcarelife.com/zyrtec-for-dogs/
4. ^ Randy Kidd (2004-07-09). "Understanding Canine Allergies". Whole Dog Journal. Retrieved 2019-08-10.
5. ^ Kennis, Robert A. (2006). "Food Allergies: Update of Pathogenesis, Diagnoses, and Management". Veterinary Clinics of North America: Small Animal Practice. 36: 175–184. doi:10.1016/j.cvsm.2005.09.012. PMID 16364783.
6. ^ a b Jensen-Jarolim, Erika (2017). Comparative Medicine: Disorders Linking Humans with their Animals. Cham, Switzerland: Springer. p. 121. ISBN 978-3-319-47007-8.
7. ^ Dodds, W. Jean (2015). Canine Nutrigenomics: The New Science of Feeding Your Dog for Optimum Health. Dogwise Publishing.
8. ^ Lowell Ackerman (January 1994). Guide to Skin and Haircoat Problems in Dogs: 14
9. ^ Lowell Ackerman (January 1994). Guide to Skin and Haircoat Problems in Dogs: 20–28
10. ^ Lowell Ackerman (January 1994). Guide to Skin and Haircoat Problems in Dogs: 18
11. ^ Lowell Ackerman (January 1994). Guide to Skin and Haircoat Problems in Dogs: 8
12. ^ "Canine Allergic Dermatitis: Causes and Treatment Options". Animal Medical Center of Southern California. 2018-02-27. Retrieved 2019-08-11.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Allergies in dogs | None | 28,422 | wikipedia | https://en.wikipedia.org/wiki/Allergies_in_dogs | 2021-01-18T19:01:50 | {"wikidata": ["Q4732122"]} |
Keratoconjunctivitis
SpecialtyOphthalmology
Keratoconjunctivitis is inflammation ("-itis") of the cornea and conjunctiva.
When only the cornea is inflamed, it is called keratitis; when only the conjunctiva is inflamed, it is called conjunctivitis.
## Causes[edit]
There are several potential causes of the inflammation:
* Keratoconjunctivitis sicca is used when the inflammation is due to dryness. ("Sicca" means "dryness" in medical contexts.) It occurs with 20% of rheumatoid arthritis patients.
* The term "vernal keratoconjunctivitis" (VKC) is used to refer to keratoconjunctivitis occurring in spring, and is usually considered to be due to allergens.
* "Atopic keratoconjunctivitis" is one manifestation of atopy.
* "Epidemic keratoconjunctivitis" is caused by an adenovirus infection.
* "Infectious bovine keratoconjunctivitis" (IBK) is a disease affecting cattle caused by the bacteria Moraxella bovis.
* "Pink eye in sheep and goat" is another infectious keratoconjunctivitis of veterinary concern, mostly caused by Chlamydophila pecorum[1]
* "Superior limbic keratoconjunctivitis" is thought to be caused by mechanical trauma.
* "Keratoconjunctivitis photoelectrica" (arc eye) means inflammation caused by photoelectric UV light. It is a type of ultraviolet keratitis. Such UV exposure can be caused by arc welding without wearing protective eye glass, or by high altitude exposure from sunlight reflected from snow ("snow blindness"). The inflammation will only appear after about 6 to 12 hours. It can be treated by rest, as the inflammation usually heals after 24–48 hours. Proper eye protection should be worn to prevent keratoconjunctivitis photoelectrica.
## References[edit]
1. ^ "Merck Veterinary Manual".
## External links[edit]
Classification
D
* ICD-10: H16.2
* ICD-9-CM: 370.40
* MeSH: D007637
Look up keratoconjunctivitis in Wiktionary, the free dictionary.
* eMedicine – on Atopic keratoconjunctivitis
* eMedicine – on Epidemic keratoconjunctivitis
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
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This article about the eye is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Keratoconjunctivitis | c0022573 | 28,423 | wikipedia | https://en.wikipedia.org/wiki/Keratoconjunctivitis | 2021-01-18T19:05:05 | {"mesh": ["D007637"], "umls": ["C0022573"], "wikidata": ["Q1623006"]} |
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Corticosteroid-binding globulin deficiency | c1852529 | 28,424 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199247 | 2021-01-23T17:28:47 | {"mesh": ["C565152"], "omim": ["611489"], "umls": ["C1852529"], "icd-10": ["E27.8"], "synonyms": ["Transcortin deficiency"]} |
An estrogen-dependent condition, disease, disorder, or syndrome, is a medical condition that is, in part or full, dependent on, or is sensitive to, the presence of estrogenic activity in the body.[citation needed]
Known estrogen-dependent conditions include mastodynia (breast pain/tenderness),[1][2] breast fibroids,[3] mammoplasia (breast enlargement), macromastia (breast hypertrophy),[4][5] gynecomastia,[6] breast cancer,[7] precocious puberty in girls,[8] melasma,[9] menorrhagia,[10][11] endometriosis,[12] endometrial hyperplasia,[13] adenomyosis,[13] uterine fibroids,[7] uterine cancers (e.g., endometrial cancer),[7] ovarian cancer,[14] and hyperestrogenism in males such as in certain conditions like cirrhosis and Klinefelter's syndrome.[15]
Such conditions may be treated with drugs with antiestrogen actions, including selective estrogen receptor modulators (SERMs) such as tamoxifen and clomifene, estrogen receptor antagonists such as fulvestrant, aromatase inhibitors such as anastrozole and exemestane,[7] gonadotropin-releasing hormone (GnRH) analogues such as leuprorelin and cetrorelix, and/or other antigonadotropins such as danazol, gestrinone, megestrol acetate, and medroxyprogesterone acetate.[16][17]
## See also[edit]
* Androgen-dependent condition
* Estrogen insensitivity syndrome
## References[edit]
1. ^ CURRENT OBSTETRICS and GYNECOLOGY by MUKHERJEE. Jaypee Brothers Publishers. 2007. pp. 347–. ISBN 978-81-8061-996-0.
2. ^ Leonard J. Deftos (1 January 1998). Clinical Essentials of Calcium and Skeletal Disorders. Professional Communications. pp. 226–. ISBN 978-1-884735-39-4.
3. ^ Linda Laucella (1 September 2002). The Hormone Decision. Contemporary Books. ISBN 978-0-07-141615-3.
4. ^ Maria Siemionow; Marita Eisenmann-Klein (13 January 2010). Plastic and Reconstructive Surgery. Springer Science & Business Media. pp. 423–. ISBN 978-1-84882-513-0.
5. ^ Merril D. Smith (8 September 2014). Cultural Encyclopedia of the Breast. Rowman & Littlefield Publishers. pp. 73–. ISBN 978-0-7591-2332-8.
6. ^ Vasan; R.S. (1 January 1998). Textbook of Medicine. Orient Blackswan. pp. 1113–. ISBN 978-81-250-1266-5.
7. ^ a b c d Edward J. Parish; W. David Nes (14 January 1997). Biochemistry and Function of Sterols. CRC Press. pp. 26–27. ISBN 978-0-8493-7674-0.
8. ^ Michael Crocetti; Michael A. Barone; Frank A. Oski (2004). Oski's Essential Pediatrics. Lippincott Williams & Wilkins. pp. 564–. ISBN 978-0-7817-3770-8.
9. ^ W. Steven Pray (2006). Nonprescription Product Therapeutics. Lippincott Williams & Wilkins. pp. 639–. ISBN 978-0-7817-3498-1.
10. ^ Sharon L. Lewis; Shannon Ruff Dirksen; Margaret M. Heitkemper; Linda Bucher (2 December 2013). Medical-Surgical Nursing: Assessment and Management of Clinical Problems, Single Volume. Elsevier Health Sciences. pp. 1281–. ISBN 978-0-323-08678-3.
11. ^ Guy I. Benrubi (28 March 2012). Handbook of Obstetric and Gynecologic Emergencies. Lippincott Williams & Wilkins. pp. 287–. ISBN 978-1-4511-4797-1.
12. ^ Togas Tulandi; David Redwine (9 December 2003). Endometriosis: Advances and Controversies. CRC Press. pp. 125–. ISBN 978-0-8247-5864-6.
13. ^ a b Reed Dunnick; Carl M. Sandler; Jeffrey H. Newhouse (15 October 2012). Textbook of Uroradiology. Lippincott Williams & Wilkins. pp. 377–378. ISBN 978-1-4511-0916-0.
14. ^ Aurel Lupulescu (24 October 1990). Hormones and Vitamins in Cancer Treatment. CRC Press. pp. 33–. ISBN 978-0-8493-5973-6.
15. ^ Eugene A. DeFelice (1 May 2002). Breast Cancer: Web Resource Guide for Consumers, Healthcare Providers, Patients, and Physicians. iUniverse. pp. 65–. ISBN 978-0-595-22651-1.
16. ^ Bruce A. Chabner; Dan L. Longo (8 November 2010). Cancer Chemotherapy and Biotherapy: Principles and Practice. Lippincott Williams & Wilkins. pp. 651–673. ISBN 978-1-60547-431-1.
17. ^ Debmalya Barh (13 October 2014). Omics Approaches in Breast Cancer: Towards Next-Generation Diagnosis, Prognosis and Therapy. Springer. pp. 488–. ISBN 978-81-322-0843-3.
* v
* t
* e
Gonadal disorder
Ovarian
* Polycystic ovary syndrome
* Premature ovarian failure
* Estrogen insensitivity syndrome
* Hyperthecosis
Testicular
Enzymatic
* 5α-reductase deficiency
* 17β-hydroxysteroid dehydrogenase deficiency
* aromatase excess syndrome
Androgen receptor
* Androgen insensitivity syndrome
* Familial male-limited precocious puberty
* Partial androgen insensitivity syndrome
Other
* Sertoli cell-only syndrome
General
* Hypogonadism
* Delayed puberty
* Hypergonadism
* Precocious puberty
* Hypoandrogenism
* Hypoestrogenism
* Hyperandrogenism
* Hyperestrogenism
* Postorgasmic illness syndrome
* Cytochrome P450 oxidoreductase deficiency
* Cytochrome b5 deficiency
* Androgen-dependent condition
* Aromatase deficiency
* Complete androgen insensitivity syndrome
* Mild androgen insensitivity syndrome
* Hypergonadotropic hypogonadism
* Hypogonadotropic hypogonadism
* Fertile eunuch syndrome
* Estrogen-dependent condition
* Premature thelarche
* Gonadotropin insensitivity
* Hypergonadotropic hypergonadism
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Estrogen-dependent condition | None | 28,425 | wikipedia | https://en.wikipedia.org/wiki/Estrogen-dependent_condition | 2021-01-18T18:28:19 | {"wikidata": ["Q20706757"]} |
ZTTK syndrome
Other namesZhu-Tokita-Takenouchi-Kim syndrome
ZTTK Syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. Common symptoms include moderate to severe intellectual disability and developmental delay.[1][2]
Characteristic abnormalities include cerebral cortex malformations, vision difficulties, musculoskeletal abnormalities and congenital defects.[1] Individuals with a mutation in the SON gene may not all display these features. However, SON loss of function (LoF) variants appear to cause a clinically distinguished phenotype.[1]
## Contents
* 1 Signs and Symptoms
* 1.1 Ocular Features
* 1.2 Facial Features
* 1.3 Systemic Features
* 1.4 Central Nervous System
* 1.5 Physiological
* 2 Genetics
* 2.1 Allelic Variants of SON Gene
* 2.2 Structure of SON Gene
* 3 Mechanism
* 3.1 Role of SON in RNA Splicing
* 3.2 Role of SON in Embryonic Development
* 3.3 Effects of SON Haploinsufficiency on RNA Splicing and Embryonic Development
* 4 Diagnosis
* 4.1 Brain Imaging
* 4.2 Whole Exome Sequencing
* 5 Treatment
* 6 References
## Signs and Symptoms[edit]
The key signs and symptoms associated with ZTTK Syndrome patients include ocular, facial and systemic features.[citation needed]
### Ocular Features[edit]
Distinctive ocular features of the ZTTK syndrome are deep-set eyes, down-slanting palpebral fissures and horizontal eyebrows.[1] Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses.[1] Strabismus; misalignment or crossing of the eyes when viewing an object, direct hypermetropia; farsightedness, and nystagmus; eyes making repetitive and uncontrolled movements, are frequently present.[3]
### Facial Features[edit]
Individuals with ZTTK syndrome have distinctive minor to moderate facial dysmorphisms. Distinct facial features include facial asymmetry, low-set ears, midface retraction, frontal bossing,[4] a depressed and or broad nasal bridge and a smooth or short philtrum.[1]
### Systemic Features[edit]
Multi-system abnormalities are common in ZTTK syndrome. The majority of individuals diagnosed with ZTTK syndrome display congenital malformations such as urogenital and malformations, heart defects, and a high or cleft palate.[1]
Congenital defects such as a thinned atrial septum, ventricular septal defects, patent ductus arteriosus, dysplastic kidney and agenesis of the lung and gallbladder have also been noted.[4] Whole body musculoskeletal abnormalities have been observed in ZTTK syndrome patients, including hemivertebrae, scoliosis or kyphosis, contractures, joint laxity,[4] joint hypermobility and hypotonia.[1] During the neonatal period, persistent feeding difficulties is associated with growth failure and a short stature in most individuals with ZTTK syndrome.[4]
### Central Nervous System[edit]
Developmental delay is common in ZTTK syndrome patients, and appears to progressively increase the severity of intellectual disability with age.[1] The development of gross and fine motor skills, as well as fluent and receptive language skills are shown to be delayed in developmental age. Macrocephaly and brain white matter abnormalities have also been observed.[5] Seizures often develop between the ages of 1 to 6 years old.[3]
### Physiological[edit]
Mutations of the SON gene can affect metabolism and mitochondrial function in newborns with ZTTK syndrome. Metabolic screening confirmed mitochondrial dysfunction and O-glycosylation defects in individuals with ZTTK syndrome.[1] Decreased levels of immunoglobulin A and or immunoglobulin G identified in ZTTK syndrome patients resulted in coagulation abnormalities.[2]
## Genetics[edit]
ZTTK syndrome is caused by heterozygous mutations in the SON gene.[5] As an autosomal dominant disease, children with parents carrying a SON mutation have a 50% risk of inheriting the mutation. However, the majority of affected individuals have de novo mutations in the SON gene and ZTTK syndrome is not inherited to their children.[3]
### Allelic Variants of SON Gene[edit]
Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion[5][6], de novo mutation in exon 3 in the SON gene[1] and de novo 2-base point insertion in exon,[1] resulting in haploinsufficiency or a frameshift and premature termination in the arginine/serine (RS) domain. Peripheral blood cells from the sampled patients confirmed decreased levels of the mutant RNA transcript, consistent with haploinsufficiency.[1] Other mutations observed include a nonsense mutation, an in-frame deletion of amino acids and an entire gene deletion.[1] De novo heterozygous 1-base point duplication in exon 3 and 1-base point deletion in exon 4 of the SON gene resulted in a frameshift and premature termination.[4] Parental DNA has confirmed that de novo mutations are common in patients with ZTTK syndrome.[1] De novo LoF mutations and haploinsufficiency for the SON gene are shown to cause profound developmental malformations during embryonic development as seen in the phenotypic manifestations of the ZTTK syndrome.[4]
### Structure of SON Gene[edit]
SON is a large protein consisting of 2426 amino acids and repeat sequences.[7] SON is located within the human chromosomal region 21q22.11 in nuclear speckles and consists of 12 exons.[8] Exon 3 of the SON gene is particularly large, accounting for 82% of the entire coding region.[1] The majority of SON variants found in ZTTK syndrome individuals are localised to exon 3.[4]
## Mechanism[edit]
Role of the spliceosome-associated gene, SON in regulating RNA splicing through intron retention and exon skipping to maintain the pluripotency of human embryonic stem cells (hESCs) and cell-cycle progression.
### Role of SON in RNA Splicing[edit]
The SON gene encodes the SON protein, which is able to bind to DNA and RNA.[9] The SON protein is mainly localised to nuclear speckles and involved in a variety of cellular processes such as transcription, cell cycle regulation and subnuclear organisation of pre-messenger RNA (mRNA) splicing.[9][10]
SON contains various domains such as the RS-rich domain, a G-patch domain and a double-stranded RNA-binding motif.[7][11] The presence of these domains is necessary for SON to mediate constitutive and alternative splicing.[1] The RS-rich domain serves to localise SON in nuclear speckles with pre-mRNA processing factors.[9] The functional domains and specific localisation of SON in nuclear speckles has indicated its role in pre-mRNA splicing.[9]
SON also plays a key role in alternative splicing of exons. SON is required for genome stability by ensuring the efficiency of RNA splicing of weak constitutive and alternative splice sites. SON-dependent cell-cycle genes possess a weak 5’ or 3’ splice site and are dependent on SON to ensure efficient splicing and spliceosome recognition.[7]
### Role of SON in Embryonic Development[edit]
The SON gene also plays a critical role during development. SON is expressed preferentially in undifferentiated stem cells.[9] Depletion of SON results in stem cell differentiation.[9]
Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as pluripotency.[12] Pluripotent stem cells, such as hESCs can undergo gastrulation to give rise to the three germ layers.[9]
A significant level of SON expression in fetal tissue has suggested a regulatory role of SON in cellular proliferation and or differentiation during embryonic development by influencing the splicing of pluripotency maintenance genes.[13] The expression of transcription factors such as the SON factor and epigenetic modifiers regulate the pluripotency of hESCs by ensuring genes undergo RNA splicing to create a mature RNA transcript.[14]
The SON gene is required for RNA splicing of transcripts encoding the cell-cycle protein TUBG1 and genes maintaining hESC pluripotency; PRDM14, OCTA, E4F1 and MED24 in hESCs.[12] As OCT4 is involved in the core transcriptional circuitry in hESCs, misregulation of OCT4 induces cell differentiation. PRDM14 is a pluripotency regulator and MED24 is a mediator complex essential in the maintenance of pluripotency.[12] In wild-type ESCs, SON binding to the RNA transcripts of pluripotency regulating genes such as PRDM14 and OCT4 results in correct splicing and maintenance of pluripotency.[14]
### Effects of SON Haploinsufficiency on RNA Splicing and Embryonic Development[edit]
The downregulation of SON can impact the regulation of mitotic regulator transcripts and cause defects in cell survival and the developmental process.[9] SON depletion causes decreased cell growth,[7][15][16] disarrayed microtubule processes and disordered spindle pole separation, causing mitotic arrest at metaphase and severe genome integrity impairment.[7][15][16] Mitotic cells without functional SON have increased double-stranded DNA breaks and micronuclei formation.[15] Consequently, genome stability and regulation of the cell cycle are compromised, contributing to the development of multi-organ defects in ZTTK syndrome patients.[7]
Aberrant splicing and de novo heterozygous LoF mutations in SON gene disrupts the process of gene expression and can result in SON haploinsufficiency.[17][5] ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and abnormal RNA splicing products of numerous genes which are necessary for neuronal cell migration, metabolic processes and neurodevelopment of the brain.[5]
RNA analyses from affected individuals with ZTTK syndrome confirmed the downregulation of genes essential for neuronal migration and cortex organisation (TUBG1, FLNA, PNKP, WDR62, PSMD3, HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA).[1] Aberrant SON-mediated RNA splicing results from the accumulation of mis-spliced transcripts.[1] The mis-spliced RNA products are caused by significant intron retention (TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1) and exon skipping (HDAC6 and ADA).[1] In contrast, the parents of individuals with ZTTK syndrome display an absence of mis-spliced RNA products.[1]
SON depletion downregulates and causes aberrant splicing of the pluripotency factors, OCT4, PRDM14, MED24 and E4F1, inducing spontaneous differentiation of hESCs followed by widespread cell death.[12][14] As SON acts as an intron splicing activator, the depletion of SON leads to increased intron retention and exon skipping in hESCs in regulatory genes of the cell cycle and hESC identity.[18] Mutations in the SON gene and or SON haploinsufficiency compromises SON-mediated RNA splicing and contributes to the complex developmental defects observed in individuals with ZTTK syndrome.[1] Erroneous SON function causes insufficient production of downstream targets, genome instability and disrupted cell cycle progression which are fundamental to the developmental defects and organ abnormalities in individuals with ZTTK syndrome. For example, FLNA haploinsufficiency observed in individuals with ZTTK syndrome is the main cause of a rare brain disorder, periventricular nodular heterotopia. De novo LoF mutations in TUBG1 can result in microcephaly and cortical malformations due to compromised SON-mediated RNA splicing in affected ZTTK syndrome individuals.[19]
The consequence of SON haploinsufficiency on embryonic development has also been studied in zebrafish animal models (Danio rerio). A range of developmental defects was observed, including bent, shortened or gnarled tails, massive body curvatures with deformed body axes, eye malformations and microcephaly.[1] Embryos that survived for a longer period of time have more severe phenotypes such as spinal malformations with brain oedema, imitating features observed in affected ZTTK syndrome individuals.[1]
## Diagnosis[edit]
### Brain Imaging[edit]
Early diagnosis of the ZTTK syndrome can be determined by brain imaging. Magnetic resonance imaging (MRI) of the brain of ZTTK syndrome patients have revealed significant abnormalities.[1]
Abnormal gyration patterns were seen, including polymicrogyria; many unusually small folds in the brain, simplified gyria; reduced number and shallow appearance of gyri, and periventricular nodular heterotopia; failure of neurons to migrate properly during early development of the fetal brain.[3][20]
Ventriculomegaly can also be observed in MRI where the lateral ventricles become dilated in the foetus and can contribute to developmental delays in ZTTK syndrome individual.[3] Another common feature observed in ZTTK syndrome patients is Arnold-Chiari malformations which are structural defects in the cerebellum that manifest during fetal development and can lead to vision problems, scoliosis or kyphosis in ZTTK syndrome patients.[21]
Other pathological features seen on MRI scans of ZTTK syndrome individuals include arachnoid cysts, hypoplasia of the corpus callosum and cerebellar hemispheres and loss of periventricular white matter.[1]
Most individuals with ZTTK syndrome are identified early in childhood due to developmental delays and intellectual disabilities.[22] However, a formal diagnosis of intellectual disability can only be conducted by a performance of an IQ test score of below 70.[21]
### Whole Exome Sequencing[edit]
Whole exome sequencing (WES) can be used as a non-biased tool in the diagnostic evaluation of individuals with suspected genetic disorders such as the ZTTK syndrome.[1] Using WES, individuals were identified with truncating variants of SON and overlapping clinical features.[citation needed]
ZTTK syndrome has been identified as a neurodevelopmental disorder associated with a de novo mutation in the SON gene using WES. The SON gene is known to be a major cause of severe intellectual disability and consequent developmental disorders.[22] The first de novo truncating variant in SON was recognised in a group of individuals with severe intellectual disabilities.[5] Sanger sequencing or the use of WES of parental samples confirmed the de novo status of the truncating and missense mutations of the SON gene in the sampled ZTTK syndrome individuals.[1] Variants identified included a premature stop variant in exon 3, frame-shift variants in exon 3 and a frameshift variant in exon 4.[1]
## Treatment[edit]
There is currently no treatment for ZTTK syndrome. However, physical therapy and addressing the specific problems of multi organ disorders may be helpful.[3] The main focus should be on the diagnosis and care of individuals with ZTTK syndrome.[citation needed]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R.F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G.M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T.R.M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; De Vries, Bert B.A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; et al. (2016). "De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome". The American Journal of Human Genetics. 99 (3): 711–719. doi:10.1016/j.ajhg.2016.06.029. PMC 5011044. PMID 27545680.
2. ^ a b "OMIM Entry # 617140 - ZTTK SYNDROME; ZTTKS". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 27 October 2017.
3. ^ a b c d e f "ZTTK Syndrome".
4. ^ a b c d e f g Tokita, Mari J.; Braxton, Alicia A.; Shao, Yunru; Lewis, Andrea M.; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia (September 2016). "De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive". The American Journal of Human Genetics. 99 (3): 720–727. doi:10.1016/j.ajhg.2016.06.035. ISSN 0002-9297. PMC 5011061. PMID 27545676.
5. ^ a b c d e f Zhu, Xiaolin; Petrovski, Slavé; Xie, Pingxing; Ruzzo, Elizabeth K.; Lu, Yi-Fan; McSweeney, K. Melodi; Ben-Zeev, Bruria; Nissenkorn, Andreea; Anikster, Yair (2015-01-15). "Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios". Genetics in Medicine. 17 (10): 774–781. doi:10.1038/gim.2014.191. ISSN 1098-3600. PMC 4791490. PMID 25590979.
6. ^ Takenouchi, Toshiki; Miura, Kiyokuni; Uehara, Tomoko; Mizuno, Seiji; Kosaki, Kenjiro (2016-06-03). "EstablishingSONin 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype". American Journal of Medical Genetics Part A. 170 (10): 2587–2590. doi:10.1002/ajmg.a.37761. ISSN 1552-4825. PMID 27256762.
7. ^ a b c d e f Ahn, Eun-Young; DeKelver, Russell C.; Lo, Miao-Chia; Nguyen, Tuyet Ann; Matsuura, Shinobu; Boyapati, Anita; Pandit, Shatakshi; Fu, Xiang-Dong; Zhang, Dong-Er (April 2011). "SON Controls Cell-Cycle Progression by Coordinated Regulation of RNA Splicing". Molecular Cell. 42 (2): 185–198. doi:10.1016/j.molcel.2011.03.014. ISSN 1097-2765. PMC 3137374. PMID 21504830.
8. ^ Khan, I. M.; Fisher, R. A.; Johnson, K. J.; Bailey, M. E. S.; Siciliano, M. J.; Kessling, A. M.; Farrer, M.; Carritt, B.; Kamalati, T. (January 1994). "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25–34. doi:10.1111/j.1469-1809.1994.tb00723.x. ISSN 0003-4800. PMID 8031013. S2CID 31519119.
9. ^ a b c d e f g h Lu, Xinyi; Ng, Huck-Hui; Bubulya, Paula A. (2014-04-30). "The role of SON in splicing, development, and disease". Wiley Interdisciplinary Reviews: RNA. 5 (5): 637–646. doi:10.1002/wrna.1235. ISSN 1757-7004. PMC 4138235. PMID 24789761.
10. ^ Spector, D. L.; Lamond, A. I. (2010-10-06). "Nuclear Speckles". Cold Spring Harbor Perspectives in Biology. 3 (2): a000646. doi:10.1101/cshperspect.a000646. ISSN 1943-0264. PMC 3039535. PMID 20926517.
11. ^ Hickey, Christopher J.; Kim, Jung-Hyun; Ahn, Eun-Young Erin (2013-12-13). "New Discoveries of Old SON: A Link Between RNA Splicing and Cancer". Journal of Cellular Biochemistry. 115 (2): 224–231. doi:10.1002/jcb.24672. ISSN 0730-2312. PMID 24030980. S2CID 23130360.
12. ^ a b c d Lu, Xinyi; Göke, Jonathan; Sachs, Friedrich; Jacques, Pierre-Étienne; Liang, Hongqing; Feng, Bo; Bourque, Guillaume; Bubulya, Paula A.; Ng, Huck-Hui (2013-09-08). "SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells". Nature Cell Biology. 15 (10): 1141–1152. doi:10.1038/ncb2839. ISSN 1465-7392. PMC 4097007. PMID 24013217.
13. ^ Cheng, Suzanne; Lutfalla, Georges; Uze, Gilles; Chumakov, Ilya M.; Gardiner, Katheleen (1993). "GART, SON, IFNAR, and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338–342. doi:10.1007/bf00357094. ISSN 0938-8990. PMID 8318737. S2CID 19770065.
14. ^ a b c Livyatan, Ilana; Meshorer, Eran (October 2013). "SON sheds light on RNA splicing and pluripotency". Nature Cell Biology. 15 (10): 1139–1140. doi:10.1038/ncb2851. ISSN 1465-7392. PMID 24084863. S2CID 12137904.
15. ^ a b c Huen, Michael S.Y.; Sy, Shirley M.H.; Leung, Ka Man; Ching, Yick-Pang; Tipoe, George L.; Man, Cornelia; Dong, Shuo; Chen, Junjie (July 2010). "SON is a spliceosome-associated factor required for mitotic progression". Cell Cycle. 9 (13): 2679–2685. doi:10.4161/cc.9.13.12151. ISSN 1538-4101. PMC 3040851. PMID 20581448.
16. ^ a b Sharma, Alok; Takata, Hideaki; Shibahara, Kei-ichi; Bubulya, Athanasios; Bubulya, Paula A. (2010-02-15). "Son Is Essential for Nuclear Speckle Organization and Cell Cycle Progression". Molecular Biology of the Cell. 21 (4): 650–663. doi:10.1091/mbc.e09-02-0126. ISSN 1059-1524. PMC 2820428. PMID 20053686.
17. ^ Cooper, Thomas A.; Wan, Lili; Dreyfuss, Gideon (February 2009). "RNA and Disease". Cell. 136 (4): 777–793. doi:10.1016/j.cell.2009.02.011. ISSN 0092-8674. PMC 2866189. PMID 19239895.
18. ^ Juan-Mateu, Jonàs; Villate, Olatz; Eizirik, Décio L (May 2016). "MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes research". European Journal of Endocrinology. 174 (5): R225–R238. doi:10.1530/eje-15-0916. ISSN 0804-4643. PMC 5331159. PMID 26628584.
19. ^ Poirier, Karine; Lebrun, Nicolas; Broix, Loic; Tian, Guoling; Saillour, Yoann; Boscheron, Cécile; Parrini, Elena; Valence, Stephanie; Pierre, Benjamin Saint (2013-04-21). "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly". Nature Genetics. 45 (6): 639–647. doi:10.1038/ng.2613. ISSN 1061-4036. PMC 3826256. PMID 23603762.
20. ^ "Periventricular heterotopia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-04-28.
21. ^ a b "Arnold Chiari Malformation: Symptoms, Types, and Treatment". WebMD. Retrieved 2019-04-28.
22. ^ a b Vissers, Lisenka E. L. M.; Gilissen, Christian; Veltman, Joris A. (2015-10-27). "Genetic studies in intellectual disability and related disorders". Nature Reviews Genetics. 17 (1): 9–18. doi:10.1038/nrg3999. ISSN 1471-0056. PMID 26503795. S2CID 16723395.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ZTTK syndrome | c4310696 | 28,426 | wikipedia | https://en.wikipedia.org/wiki/ZTTK_syndrome | 2021-01-18T19:10:47 | {"gard": ["13489"], "umls": ["C4310696"], "wikidata": ["Q48969022"]} |
A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract-2 (CAKUT2) is caused by heterozygous mutation in the TBX18 gene (604613) on chromosome 6q14.
Description
Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015).
For a discussion of genetic heterogeneity of CAKUT, see 610805.
Clinical Features
Cannon (1954) described a curious family in which 5 males in 3 successive generations had unilateral hydronephrosis. MacKay (1945) observed congenital megaloureters with hydronephrosis in 3 sibs (bilateral in 2). Two other sibs were said to have died of congenital sarcoma of the kidney. The paternal grandfather died of pyonephrosis. The father died of cerebral hemorrhage at 56. Jewell and Buchert (1962) observed 4 cases in 3 generations. Aaron and Robbins (1948) found hydronephrosis without hydroureters and aberrant renal vessels possibly responsible for obstruction at the ureteropelvic junction in sibs.
Simpson and German (1970) described 7 families with multiple cases of urinary tract anomalies, most of them a form of obstructive uropathy, and reviewed the literature on cases in sibs, twins, and other relatives.
McCormack et al. (1981) reported congenital hydronephrosis in father and son, with possible abnormality in earlier generations.
Vivante et al. (2015) reported a 4-generation Hispanic family in which 10 individuals were affected with various congenital anomalies of the kidney and urinary tract, most commonly ureteropelvic junction obstruction (UPJO) resulting in hydronephrosis. Seven affected individuals were described clinically. The age at symptom onset was highly variable, with 1 patient presenting in utero with hydronephrosis and another presenting at age 49 years with hematuria. Additional features included back or flank pain and urinary tract infection. Five of 7 patients underwent surgical intervention for the renal disease. Four additional patients from 2 unrelated Albanian families had various renal abnormalities, including renal asymmetry, small kidneys, and renal duplex. Three of these patients were asymptomatic at presentation between ages 6 and 28 years, although 1 with small kidneys was in renal failure and underwent renal transplantation at age 13 years. The fourth patient presented prenatally with hydronephrosis, megaureter, and ureterocele. An unrelated British patient was found to have bilateral small echogenic kidneys in utero, and subsequently showed vesicoureteral reflux and bilateral renal dysplasia resulting in end-stage kidney disease.
Mapping
CAKUT2 was mapped to chromosome 6q14 when Vivante et al. (2015) determined that the disorder is caused by mutation in the TBX18 gene.
### Early Mapping Studies
In linkage analysis of 5 families with hereditary pelviureteric junction (PUJO), Izquierdo et al. (1992) found linkage to HLA. Maximal lod scores were 3.090 at a recombination fraction of 0.1 with full penetrance, and 2.486 at a recombination fraction of 0.1 with a penetrance of 90%. Use of the HOMOG program suggested genetic heterogeneity with one locus on 6p in 4 of the families and a different locus in 1 family. After exclusion of the unlinked family, 2-point analysis gave a maximal lod score of 3.9 at a recombination fraction of 0.05 with full penetrance, and 4.2 at a recombination fraction of 0.0 with 90% penetrance.
A further suggestion of a 6p locus for hydronephrosis was provided by the observation of Fryns et al. (1993): they performed prenatal diagnosis on a 26-year-old primigravida after the detection of oligohydramnios with bilateral multicystic renal dysplasia on routine echographic examination at 20 weeks' gestation. Chromosomal analysis of the amniotic fluid cell cultures demonstrated translocation t(6;19)(p23.1;q13.4). Examination of the fetus demonstrated bilateral multicystic renal dysplasia with bilateral PUJ obstruction resulting in massive hydronephrosis. Except for external morphologic stigmata and severe lung hypoplasia secondary to the oligohydramnios, no additional malformations were noted. Groenen et al. (1996) stated that an associated von Mayer-Rokitansky-Kuster disorder (277000) was found. Furthermore, the location of the breakpoints in this translocation were revised to 6p21 and 19q13.1.
To elucidate the relationship between the t(6;19) translocation and hereditary hydronephrosis, Groenen et al. (1996) carried out a molecular characterization of a chromosome 19 cosmid clone previously identified as spanning the translocation in the index case. In a fragment straddling the translocation breakpoint, they demonstrated DNA sequences with a high degree of similarity to the USF2 gene (600390) that encodes the transcription factor upstream stimulator factor 2. The chromosome 19 breakpoint in the patient with bilateral multicystic renal dysplasia appeared to have occurred in intron 7 of the USF2 gene. Northern blot analysis of a variety of human tissues revealed that the USF2 gene is ubiquitously expressed. Furthermore, Northern blot and 3-prime RACE analysis of mRNA isolated from lung fibroblasts of the MCRD patient failed to detect a fusion transcript involving USF2 sequences, suggesting gene disruption rather than the generation of a fusion gene as a possible underlying mechanism. Groenen et al. (1998) determined that the chromosome 6 breakpoint in this patient resides in intron 9 of the CDC5L gene (602868).
Raffle (1955) described a family in which 4 members in 2 generations had hydronephrosis. McHale et al. (1996) gave an update on this family, which was shown to contain 9 affected individuals in 3 generations, and excluded linkage to HLA, providing further evidence of genetic heterogeneity in hereditary hydronephrosis. Mackintosh et al. (1989) had also reported a large 'unlinked' family.
Mackintosh et al. (1989) found linkage between familial vesicoureteral reflux (193000) and HLA, suggesting that this disorder may be determined by mutation at the same locus on 6p as multicystic renal dysplasia.
Robson et al. (1994, 1995) proposed that multicystic dysplasia of the kidneys, ureteropelvic junction obstruction, and vesicoureteral reflux may have a common genetic cause.
Santava et al. (1997) studied 4 families with probable autosomal dominant inheritance of congenital hydronephrosis caused by ureteropelvic junction stenosis. In 2 of the families, studies failed to show close linkage to chromosome 6 markers; in the other 2, the findings were consistent with linkage. HLA class I antigen studies were done in all 4 families and class II (HLA-DR; 142860) antigen studies in 3. Male-to-male transmission was observed in 2 of the families.
Inheritance
Male-to-male transmission in several reports of bilateral multicystic renal dysplasia (e.g., Cannon, 1954; McCormack et al., 1981; Santava et al., 1997) indicates autosomal dominant inheritance.
The transmission pattern of UPJO in the Hispanic family reported by Vivante et al. (2015) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of a large multigenerational Hispanic family with UPJO, Vivante et al. (2015) identified a heterozygous truncating mutation in the TBX18 gene (c.1010delG; 604613.0001). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. Direct exon sequencing of the TBX18 gene in 1,295 unrelated individuals with CAKUT identified 2 heterozygous missense mutations in the TBX18 gene (604613.0002 and 604613.0003) in 3 families. In vitro functional expression assays in HEK293 cells showed that all the mutant proteins, including the truncating protein, localized properly to the nucleus, were able to homodimerize, and had a prolonged half-life compared to wildtype, all consistent with a dominant-negative effect rather than haploinsufficiency. The 3 proteins also showed significantly less repressive activity compared to wildtype, consistent with a loss of function. Specific studies of the truncating mutation confirmed a dominant-negative dose-dependent effect. Vivante et al. (2015) concluded that the phenotype resulted from impaired ureter smooth muscle cell development during nephrogenesis.
INHERITANCE \- Autosomal dominant GENITOURINARY \- Flank pain Kidneys \- Renal asymmetry \- Hypoplastic kidneys \- Renal dysplasia \- Pelviectasis \- Hydronephrosis \- Renal failure (in some patients) Ureters \- Megaureter Bladder \- Ureteropelvic junction obstruction MISCELLANEOUS \- Variable phenotype \- Variable age at onset (range prenatal to mid-adulthood) \- Some patients may be asymptomatic \- Some patients may need surgery or renal transplant \- Four unrelated families have been reported (last curated September 2015) MOLECULAR BASIS \- Caused by mutation in the T-box 18 gene (TBX18, 604613.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 | c0521619 | 28,427 | omim | https://www.omim.org/entry/143400 | 2019-09-22T16:40:06 | {"doid": ["0080207"], "mesh": ["C537373"], "omim": ["143400"], "icd-10": ["Q62.39"], "synonyms": ["Alternative titles", "URETEROPELVIC JUNCTION OBSTRUCTION", "PELVIURETERIC JUNCTION OBSTRUCTION", "HYDRONEPHROSIS DUE TO PUJO", "MULTICYSTIC RENAL DYSPLASIA, BILATERAL"]} |
For a discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
See also 16q22-linked spinocerebellar ataxia (SCA31; 117210), which is caused by an insertion within an intron of the BEAN gene (612051). Although both types of SCA map to the same region, they have different phenotypes. SCA4 with sensory axonal neuropathy has not been associated with any specific gene mutations, but Edener et al. (2011) excluded the insertion in the BEAN gene as causative for SCA4, indicating that SCA31 and SCA4 are not allelic disorders.
Clinical Features
Gardner et al. (1994) described a large Utah kindred with a distinct form of autosomal dominant spinocerebellar ataxia. Flanigan et al. (1996) presented clinical and electrophysiologic data of the family reported by Gardner et al. (1994). The phenotype consisted of ataxia with the invariant presence of a prominent axonal sensory neuropathy. Disease onset was typically in the fourth or fifth decade, but age at onset ranged from 19 to 59 years, with a median age at onset of 39 years. The earliest symptom was usually a gait disturbance, followed by difficulty with fine motor tasks and often by dysarthria. Ataxia progressed over decades, often leading to wheelchair dependence. At presentation, most patients did not complain of symptoms of neuropathy, although evidence of a length-dependent neuropathy could invariably be demonstrated on examination: all had vibratory and joint position sense loss, and 95% had at least a minimal pinprick sensation loss. All patients had absent ankle-jerk reflexes; knee-jerk reflexes were absent in 85% and complete areflexia was seen in 25%.
Hellenbroich et al. (2003) reported a German family in which more than 14 individuals spanning 5 generations were affected with autosomal dominant cerebellar ataxia. The mean age at onset was 38.3 years (range 20 to 61), and there was some suggestion of genetic anticipation. All patients had cerebellar ataxia with limb dysmetria, dysarthria, and cerebellar atrophy, as well as sensory neuropathy with hypo- or areflexia, decreased sensation, and absent sural sensory nerve action potentials.
Mapping
By linkage analysis of a Utah kindred with autosomal dominant SCA with sensory neuropathy, Gardner et al. (1994) identified a candidate disease locus, termed SCA4, on chromosome 16q.
Flanigan et al. (1996) provided full information on the mapping of the SCA4 locus identified by Gardner et al. (1994) to 16q22.1. The disorder was mapped in a 5-generation family with an autosomal dominant, late-onset spinocerebellar ataxia; the gene was tightly linked to the microsatellite marker D16S397 (lod = 5.93 at theta = 0.00).
By linkage analysis of a German family with autosomal dominant SCA, Hellenbroich et al. (2003) identified a 3.69-cM region on chromosome 16q22 between markers D16S3019 and D16S512 (maximum 2-point lod score of 4.48 at D16S3018). Analysis of 9 CAG/CTG tracts in this region showed no evidence for a repeat expansion.
Molecular Genetics
### Exclusion Studies
Edener et al. (2011) excluded a pathogenic pentanucleotide repeat in the BEAN gene, which causes SCA31, as a cause of SCA4 in the family reported by Hellenbroich et al. (2003), indicating that SCA4 and SCA31 are not allelic disorders.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Impaired smooth pursuit NEUROLOGIC Central Nervous System \- Cerebellar ataxia, progressive \- Limb dysmetria \- Dysarthria \- Extensor plantar responses \- Cerebellar atrophy Peripheral Nervous System \- Sensory neuropathy \- Distal sensory impairment \- Hyporeflexia \- Areflexia \- Absent or reduced sural nerve sensory responses MISCELLANEOUS \- Onset in fourth and fifth decades \- Genetic anticipation has been observed ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SPINOCEREBELLAR ATAXIA 4 | c0752122 | 28,428 | omim | https://www.omim.org/entry/600223 | 2019-09-22T16:16:27 | {"mesh": ["D020754"], "omim": ["600223"], "orphanet": ["98765"], "synonyms": ["Alternative titles", "SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY"]} |
Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern. Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. On July 7, 2017, the FDA in the United States approved the use of Endari (prescription grade L-glutamine) to reduce the number of sickle cell crisis. Endari is the first FDA approved treatment that is also available for children with sickle cell disease five years of age and older.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sickle cell anemia | c0002895 | 28,429 | gard | https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia | 2021-01-18T17:57:43 | {"mesh": ["D000755"], "omim": ["603903"], "orphanet": ["232"], "synonyms": ["HbS disease", "Hemoglobin S Disease", "Sickling disorder due to hemoglobin S"]} |
## Clinical Features
In the course of a study of Camurati-Engelmann disease (CAEND, CED; 131300) in which they demonstrated mutations in the TGFB1 gene (190180), Nishimura et al. (2002) encountered 2 unrelated Japanese girls, aged 17 and 11 years, who had clinical manifestations of CED, including marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, increased serum alkaline phosphatase levels, and increased erythrocyte sedimentation rates. However, radiographic findings were identical to those seen in osteopathia striata with cranial sclerosis (300373): in addition to diaphyseal dysplasia in the form of cortical thickening of the diaphyses, there was metaphyseal expansion of the long bones, coarse and thick trabeculae of the long and short tubular bones, striations in the spinal, pelvic, and long bones, and cranial sclerosis restricted to the petromastoid regions.
Molecular Genetics
### Exclusion Studies
In 2 unrelated Japanese girls with features of Camurati-Engelmann disease and of osteopathia striata with cranial sclerosis, Nishimura et al. (2002) analyzed the TGFB1 and TGFBR (190180) genes but did not find any mutations. The authors concluded that the 2 girls had a distinct disorder, which they designated 'Camurati-Engelmann disease type II.'
INHERITANCE \- Autosomal dominant GROWTH Other \- Marfanoid habitus CARDIOVASCULAR Heart \- Mitral valve prolapse \- Mitral valve regurgitation CHEST Ribs Sternum Clavicles & Scapulae \- Coarse trabeculae of ribs SKELETAL Skull \- Petromastoid sclerosis, mild Spine \- Thoracolumbar scoliosis, mild \- Vertical sclerotic striations in vertebral bodies \- Coarse trabeculae Pelvis \- Curvilinear sclerotic striations in ilia \- Flexion contracture of hip joints, mild Limbs \- Flexion of knees \- Abduction of lower limbs \- Vertical sclerotic striations of proximal femora \- Vertical sclerotic striations of proximal tibia \- Vertical sclerotic striations of distal tibial metaphyses \- Diaphyseal hyperostosis of long bones \- Diffuse sclerosis of long bone epiphyses \- Metaphyseal undermodeling of long bones \- Relative osteopenia of long bone metaphyses \- Coarse thick trabeculae of metaphyses \- Metaphyseal expansion Hands \- Diffuse trabecular coarseness of carpals \- Diffuse trabecular coarseness of metacarpals \- Cortical hyperostosis of second and third metacarpals, mild \- Sclerosis of epiphyses of tubular bones, mild MUSCLE, SOFT TISSUES \- Muscular weakness, mild \- Muscular atrophy ENDOCRINE FEATURES \- Hypogonadotropic hypogonadism \- Delayed pubertal development \- Low luteinizing hormone (LH) level MISCELLANEOUS \- Painful limbs \- Waddling gait \- Based on report of 2 unrelated patients ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CAMURATI-ENGELMANN DISEASE, TYPE 2 | c2931683 | 28,430 | omim | https://www.omim.org/entry/606631 | 2019-09-22T16:10:18 | {"mesh": ["C537978"], "omim": ["606631"], "synonyms": ["Alternative titles", "CAEND2"]} |
"Urinary stone" redirects here. For stones which form in the upper urinary tract, see Kidney stone disease.
This article is about bladder stone in humans. For bladder stone in animals, see Bladder stone (animal).
Bladder stone
Other namesvesical calculus, cystolith
A star-shaped Jackstone urolith can be seen in the urinary bladder on this radiograph of the pelvis
SpecialtyUrology
Urinary Bladder stone removed from a patient
A bladder stone is a stone found in the urinary bladder.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 3.2 Jackstone calculus
* 4 Prevention
* 5 Management
* 5.1 Cystolithotomy
* 6 History
* 7 Etymology
* 8 Other animals
* 9 References
* 10 External links
## Signs and symptoms[edit]
Bladder stones (14 mm diameter) incidentally found in a bladder diverticulum during transvesical prostatectomy (removal of the prostate via an incision in the bladder)
Bladder stones are small mineral deposits that can form in the bladder. In most cases bladder stones develop when the urine becomes very concentrated or when one is dehydrated. This allows for minerals, such as calcium or magnesium salts, to crystallize and form stones. Bladder stones vary in number, size and consistency. In some cases bladder stones do not cause any symptoms and are discovered as an incidental finding on a plain radiograph. However, when symptoms do occur, these may include severe lower abdominal and back pain, difficult urination, frequent urination at night, fever, painful urination and blood in the urine. The majority of individuals who are symptomatic will complain of pain which comes in waves. The pain may also be associated with nausea, vomiting and chills.[2]
Bladder stones vary in their size, shape and texture- some are small, hard and smooth whereas others are huge, spiked and very soft. One can have one or multiple stones. Bladder stones are somewhat more common in men who have prostate enlargement. The large prostate presses on the urethra and makes it difficult to pass urine. Over time, stagnant urine collects in the bladder and minerals like calcium start to precipitate. Other individuals who develop bladder stones include those who have had spinal cord injury, paralysis, or some type of nerve damage. When nerves to the back are damaged, the bladder cannot empty, resulting in stagnant urine.[3]
## Causes[edit]
Bladder stones may occur whenever the kidneys, bladder, or ureters become inflamed, which may occur when the urine becomes too concentrated or when the body becomes dehydrated. Minerals such as calcium and magnesium crystallize into the stones, which then can cause such symptoms as lower back or abdominal pain or difficulty with urination. The use of urinary catheters may cause a bladder stone. Individuals who are paralyzed or are unable to adequately pass urine may require the use of small plastic tubes (catheters) placed into the bladder. The use of these tubes may lead to an infection, which irritates the bladder, resulting in stone formation. Finally, a kidney stone may travel down the ureter into the bladder and become a bladder stone. There is some evidence indicating that chronic irritation of the bladder by retained stones may increase the chance of bladder cancer. Urinary schistosomiasis, a disease caused by the digenean trematode Schistosoma haematobium, has been implicated in the development of vesical calculi.[4][5] However, evidence accumulated thus far has not supported this hypothesis.[6][7]
## Diagnosis[edit]
Large jackstone in the bladder of a 60-year-old Middle Eastern man. Stone was removed by open cystolithotomy.
The diagnosis of bladder stone includes urinalysis, ultrasonography, x rays or cystoscopy (inserting a small thin camera into the urethra and viewing the bladder). The intravenous pyelogram can also be used to assess the presence of kidney stones. This test involves injecting a radiocontrast agent which is passed into the urinary system. X-ray images are then obtained every few minutes to determine if there is any obstruction to the contrast as it is excreted into the bladder. Today, intravenous pyelogram has been replaced at many health centers by CT scans. CT scans are more sensitive and can identify very small stones not seen by other tests.[8]
### Classification[edit]
Urinary stones may be composed of the following substances:[9]
* Calcium oxalate monohydrate (whewellite)
* Calcium oxalate dihydrate (weddellite)
* Calcium phosphate
* Magnesium phosphate
* Ammonium phosphate
* Ammonium magnesium phosphate (struvite)
* Calcium hydroxyphosphate (apatite)
* Uric acid and its salts (urates)
* Cystine
* Xanthine
* Indigotin (rare)
* Urostealith (rare)
* Sulfonamide (rare)
### Jackstone calculus[edit]
Jackstone calculi are rare bladder stones that have an appearance resembling toy jacks. They are almost always composed of calcium oxalate dihydrate and consist of a dense central core and radiating spicules. They are typically light brown with dark patches and are usually formed in the urinary bladder and rarely in the upper urinary tract. Their appearance on plain radiographs and computed tomography in human patients is usually easily recognizable. Jackstones often must be removed via cystolithotomy.[10]
## Prevention[edit]
The best way to prevent bladder stones is to drink plenty of liquids. Juices containing citrates are thought to reduce the risk of stone formation. A study published in the Clinical Journal of the American Society of Nephrology indicate orange juice is more effective at preventing stone formation than other citrus juices.[11] Men who have difficulty with urination due to prostate enlargement should seek treatment,[12] however, urinating in a sitting position appears to improve bladder emptying which might decrease the risk of bladder stones forming.[13]
## Management[edit]
Increasing fluid intake can facilitate the passage of small bladder stones. However, larger stones may require other methods of treatment.[14] Fragmentation of bladder stones can be achieved by use of a cystoscope which is inserted into the bladder. The urologist visualizes the stone and uses ultrasonic energy or laser lithotripsy to cause fragmentation of the stones into small pieces, which are then flushed out of the bladder. This procedure requires anesthesia and may require admission to a hospital. Complications of this treatment include infection and damage to the bladder.[15] Some stones are too large even for cystoscopic treatment and may require open cystotomy, in which an incision is made in the bladder and the stones are removed manually. For children with urinary stones, the evidence supporting treatment options is very weak and high quality trials are necessary to help guide clinical management.[16]
### Cystolithotomy[edit]
Cystolithotomy is a surgical procedure for the removal of bladder stones in the case that one has been deemed too large to pass naturally, such as developed jackstone calculi. This may require open surgery to remove the stone, however robotic cystolithotomy allows for a minimally invasive approach to remove the stone through much smaller incisions than the traditional approach. Most bladder stones can be dealt with by an endoscopic procedure, to avoid the need for a surgical incision.
An open cystolithotomy is performed under general anesthesia as an inpatient procedure. The first step is a cystoscopy to examine the bladder, then an incision is made in the lower abdomen. Once the stone is removed, the bladder is repaired with an absorbable stitch, and a catheter is inserted into the bladder via the urethra. Occasionally it is necessary to gently drip fluid in and out of the bladder for a period, as there is often some bleeding following the procedure. The majority of patients do not have major side effects following cystolithotomy, but it may be followed by a minor burning sensation and light bleeding. More serious side effects include bladder infection, a prolonged need of catheter use, and infection in the surgical incision. Rare side effects may include delayed bleeding requiring removal of clots or further surgery, injury to the urethra causing scar formation, fever and more serious infection requiring a longer hospital stay, and delayed healing of the bladder, which may require a further procedure.[17]
## History[edit]
Portrait of Jan de Doot, by Carel van Savoyen, holding the bladder stone he removed from himself according to a 1652 account in the book Observationes Medicae by Nicolaes Tulp
Lithoclastic cystotomy is attributed to Ammonius Lithotomos (stone-cutter) of Alexandria, Egypt. The term "lithotomy" is derived from the same words (λιθοτομία (lithotomia) - stone-cutting). Aulus Cornelius Celsus wrote that Lithotomos developed instruments to break up and extract bladder stones.[18] Celsus gave the first description of lithotomy as performed before and during his time, and the operation has ever since borne his name—the Celsian method.[19]
## Etymology[edit]
Lithiasis (stone formation) in the bladder is called cystolithiasis (/ˌsɪstoʊlɪˈθaɪəsɪs/), from cysto- (bladder/cyst) + -lith (stone) + -iasis (disorder).
## Other animals[edit]
Main article: Bladder stone (animal)
## References[edit]
1. ^ McNutt, WF (1893). "Chapter VII: Vesical Calculi (Cysto-lithiasis)". Diseases of the kidneys and bladder: a text-book for students of medicine. IV: Diseases of the Bladder. Philadelphia: J.B. Lippincott Company. pp. 185–6. Retrieved 2011-06-04.
2. ^ Bladder Stones General Overview Archived 2019-04-08 at the Wayback Machine, Retrieved on 2010-01-19.
3. ^ Bladder Stones Prevention, Retrieved on 2010-01-19.
4. ^ Ward, RO (1945). "Some Surgical Aspects of Urinary Bilharziasis". Proceedings of the Royal Society of Medicine. 39 (1): 27–38. ISSN 0035-9157. PMC 2181785. PMID 19993192.
5. ^ Lukács, T; Frang D; El-Seaghy AA; Pajor L (1989). "Multiple urolithiasis in bilharziasis patients". International Urology and Nephrology. 21 (3): 269–73. doi:10.1007/BF02559736. PMID 2807777.
6. ^ Ibrahim, A (1978). "The relationship between urinary bilharziasis and urolithiasis in the Sudan". British Journal of Urology. 50 (5): 294–7. doi:10.1111/j.1464-410X.1978.tb03634.x. ISSN 0007-1331. PMID 753482.
7. ^ Kambal, A (1981). "The Relation of Urinary Bilharziasis to Vesical Stones in Children". British Journal of Urology. 53 (4): 315. doi:10.1111/j.1464-410X.1981.tb03185.x. ISSN 0007-1331. PMID 7260543.
8. ^ Bladder Stones: eMedicine Urology, Retrieved on 2010-01-19.
9. ^ S. Materazzi, R. Curini, G. D'Ascenzo, and A. D. Magri (1995), TG-FTIR coupled analysis applied to the studies in urolithiasis: characterization of human renal calculi. Termochimica Acta, volume 264, 75--93.
10. ^ Singh, KamalJeet; Goyal, Adarsh; Tiwari, Anuj (2011). "Jackstone: A rare entity of vesical calculus". Indian Journal of Urology. 27 (4): 543–4. doi:10.4103/0970-1591.91449. ISSN 0970-1591. PMC 3263228. PMID 22279326.
11. ^ [1], Retrieved 2011-04-26.
12. ^ Bladder Stones: Prevention, Retrieved on 2010-01-19.
13. ^ de Jong, Y; Pinckaers, JH; Ten Brinck, RM; Lycklama À Nijeholt, AA; Dekkers, OM (2014). "Urinating Standing versus Sitting: Position Is of Influence in Men with Prostate Enlargement. A Systematic Review and Meta-Analysis". PLoS ONE. 9 (7): e101320. Bibcode:2014PLoSO...9j1320D. doi:10.1371/journal.pone.0101320. PMC 4106761. PMID 25051345.
14. ^ Bladder Stones: NY Times Health Information, Retrieved on 2010-01-19.
15. ^ Bladder Stones Overview: University of Maryland Medical Center, Retrieved on 2010-01-19.
16. ^ Barreto, Lenka; Jung, Jae Hung; Abdelrahim, Ameera; Ahmed, Munir; Dawkins, Guy P. C.; Kazmierski, Marcin (2019-10-09). "Medical and surgical interventions for the treatment of urinary stones in children". The Cochrane Database of Systematic Reviews. 10: CD010784. doi:10.1002/14651858.CD010784.pub3. ISSN 1469-493X. PMC 6785002. PMID 31596944.
17. ^ "Cystolithotomy (Open Removal of Bladder Stones)". Nicholas Brook Urology. Nick Brook Urologist Adelaide. 2013. Retrieved 17 April 2014.
18. ^ Celsus, Aulus Cornelius (1831). A translation of the eight books of Aul. Corn. Celsus on medicine. Simpkin and Marshal. pp. 311–. Retrieved 2011-06-04.
19. ^ Gouley, John William Severin (1892). Diseases of the urinary apparatus: phlegmasic affections. D. Appleton and Company. pp. 3–. Retrieved 2011-06-04.
## External links[edit]
Classification
D
* ICD-10: N21.0-N21.9
* ICD-9-CM: 594.0, 594.1, 594.2, 594.8, 594.9
* MeSH: D001744
* DiseasesDB: 31859
External resources
* MedlinePlus: 001275
* eMedicine: ped/2371
Wikimedia Commons has media related to Urinary bladder stones.
* v
* t
* e
Diseases of the urinary tract
Ureter
* Ureteritis
* Ureterocele
* Megaureter
Bladder
* Cystitis
* Interstitial cystitis
* Hunner's ulcer
* Trigonitis
* Hemorrhagic cystitis
* Neurogenic bladder dysfunction
* Bladder sphincter dyssynergia
* Vesicointestinal fistula
* Vesicoureteral reflux
Urethra
* Urethritis
* Non-gonococcal urethritis
* Urethral syndrome
* Urethral stricture
* Meatal stenosis
* Urethral caruncle
Any/all
* Obstructive uropathy
* Urinary tract infection
* Retroperitoneal fibrosis
* Urolithiasis
* Bladder stone
* Kidney stone
* Renal colic
* Malakoplakia
* Urinary incontinence
* Stress
* Urge
* Overflow
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Bladder stone | c0005683 | 28,431 | wikipedia | https://en.wikipedia.org/wiki/Bladder_stone | 2021-01-18T19:09:55 | {"mesh": ["D001744"], "umls": ["C0005683"], "icd-9": ["594.2", "594.0", "594.8", "594.9", "594.1"], "wikidata": ["Q3825881"]} |
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Unicentric Castleman disease
Other namesGiant lymph node hyperplasia, lymphoid hamartoma, angiofollicular lymph node hyperplasia
Micrograph of lymph node biopsy demonstrating hyaline vascular features consistent with Castleman disease
SpecialtyHematology, immunology, rheumatology, pathology
Diagnostic methodBased on patient history, physical exam, laboratory testing, medical imaging, histopathology
FrequencyApproximately 5000-6000 new cases per year in the United States
Unicentric Castleman disease is a subtype of Castleman disease (also known as giant lymph node hyperplasia, lymphoid hamartoma, or angiofollicular lymph node hyperplasia), a group of lymphoproliferative disorders characterized by lymph node enlargement, characteristic features on microscopic analysis of enlarged lymph node tissue, and a range of symptoms and clinical findings
People with unicentric Castleman disease (UCD) have an enlarged lymph node or multiple enlarged lymph nodes in a single lymph node region. It is the most common subtype of Castleman disease, symptoms are typically mild, abnormalities on blood tests are uncommon, organ dysfunction is uncommon, and surgical treatment is curative in the majority of patients. The cause of UCD is not known.
Castleman disease is named after Benjamin Castleman, who first described the disease in 1956. The Castleman Disease Collaborative Network is the largest organization focused on the disease and is involved in research, awareness, and patient support.
## Contents
* 1 Signs and symptoms
* 1.1 Associated diseases
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classification
* 4.2 Medical imaging
* 4.3 Laboratory testing
* 4.4 Pathology
* 4.5 Diseases to be excluded
* 5 Treatment
* 5.1 Follow-up
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 8.1 Organizations
* 9 References
## Signs and symptoms[edit]
UCD commonly presents without symptoms; however, people with the disease may experience enlarged lymph nodes in a single lymph node region or report symptoms related to compression of neighboring structures by enlarged lymph nodes, such as difficulty breathing and pain or pressure in the abdomen or chest.[citation needed]
Systemic symptoms (fever, night sweats, weight loss, fatigue), extravascular fluid accumulation (peripheral edema, ascites, pleural effusions), and enlargement of the liver and/or spleen, all of which are commonly seen in HHV-8-associated MCD and iMCD, are uncommon in UCD.[1]
### Associated diseases[edit]
UCD is associated with increased risk of paraneoplastic pemphigus.[1]
## Causes[edit]
UCD has no known causes or risk factors. Cases of Castleman disease running in families have been reported; however, no causative genetic variants have been identified[2]
## Mechanism[edit]
The mechanism of UCD is poorly understood. Most published research supports a growth of abnormal immune system cells (neoplasm) as the most likely cause of UCD, but this has not been conclusively demonstrated or fully characterized. Other proposed mechanisms include viral infections and autoimmune processes. Because surgical removal of affected lymph nodes in UCD is typically curative and recurrence is rare, it is believed that the pathologic process is limited to affected lymph nodes. Unlike HHV-8-associated MCD, which is caused by the HHV-8 virus, UCD has not been associated with HHV-8 infection1
When findings typically seen in MCD, such as systemic symptoms and laboratory abnormalities, they are likely related to increased levels of molecules that stimulate the immune system (cytokines), such as interleukin 6 (IL-6).[2] Systemic symptoms and laboratory abnormalities may be associated with the presence of plasmacytic features on microscopic analysis of affected lymph node tissue.[3]
There have been no reported cases of UCD transforming into iMCD.
## Diagnosis[edit]
UCD is diagnosed based on patient history, physical exam, laboratory testing, radiologic imaging, and microscopic analysis (histology) of biopsied tissue from an enlarged lymph node.[citation needed]
There are no widely accepted diagnostic criteria for UCD; however, diagnosis generally requires enlargement of lymph nodes limited to a single region of lymph nodes (typically confirmed with radiologic imaging), biopsy of an enlarged lymph node demonstrating characteristic features of Castleman disease, and exclusion of other diseases that can mimic UCD.[1]
### Classification[edit]
Castleman disease describes a group of at least 3 distinct disorders—unicentric Castleman disease (UCD), human herpesvirus 8 associated multicentric Castleman disease (HHV-8-associated MCD), and idiopathic multicentric Castleman disease (iMCD). Identifying the correct subtype of the disease is important, as the three disorders vary significantly in symptoms, clinical findings, disease mechanism, treatment approach, and prognosis.[4]
* In Unicentric Castleman disease enlarged lymph nodes with characteristic microscopic findings are present in only a single lymph node region.
* In the multicentric subtypes of Castleman disease, enlarged lymph nodes with characteristic findings are present in multiple lymph node regions. The multicentric variants of Castleman disease are further classified by known causes of the disease.
* HHV-8-associated MCD is caused by uncontrolled infection with human herpesvirus 8 (HHV-8, also known as Kaposi sarcoma-associated herpesvirus).
* In idiopathic multicentric Castleman disease (iMCD) the cause of the disease is unknown (idiopathic). Testing for HHV-8 must be negative to diagnose iMCD.
### Medical imaging[edit]
Radiologic imaging shows an enlarged lymph node or multiple enlarged lymph nodes in a single region, which are typically 18F-fluorodoxyglucose (FDG) avid on positron-emission tomography (PET).[1]
### Laboratory testing[edit]
Laboratory testing is typically normal, including blood counts, metabolic tests, and inflammatory markers; however, in some people with UCD, laboratory testing may show abnormalities more commonly seen in HHV-8-associated MCD or iMCD. These abnormal tests include elevated C-Reactive Protein, decreased hemoglobin levels (anemia), low albumin levels, elevated creatinine (kidney dysfunction), increased immunoglobulin levels, abnormal platelet counts, and elevations of molecules involved in inflammation (cytokines), such as interleukin 6 (IL-6).[1]
### Pathology[edit]
The microscopic appearance (histology) of biopsied tissue from an enlarged lymph node must demonstrate a constellation of features consistent with Castleman disease. There are three patterns of characteristic histologic features associated with UCD:[4]
* Hyaline vascular - regressed germinal centers, follicular dendritic cell prominence or displasia, hypervascularity in interfollicular regions, sclerotic vessels, prominent mantle zones with an “onion-skin” appearance.
* Plasmacytic – increased number of follicles with large hyperplastic germinal centers and sheetlike plasmacytosis (increased number plasma cells).
* Mixed - features of both hyaline vascular and plasmacytic patterns
UCD most commonly demonstrates hyaline vascular features; however, plasmacytic features or a mixture of both hyaline vascular and plasmacytic features may also be seen in UCD lymph nodes.[3] The clinical utility of subtyping Castleman disease by histologic features is uncertain, as histologic subtypes do not consistently predict disease severity or treatment response.[4]
Staining with latency-associated nuclear antigen (LANA-1), a marker for HHV-8 infection, must be negative to diagnose UCD.[1]
### Diseases to be excluded[edit]
Diagnosis of UCD requires ruling out other diseases that can present with enlarged lymph nodes limited to a single region of lymph nodes and histologic findings similar to UCD on microscopic analysis of biopsied lymph nodes. This include infectious causes, such as toxoplsasma lymphadenitis, and cancers, including Hodgkin lymphoma, follicular dendritic cell sarcoma, and plasmacytoma.[1]
## Treatment[edit]
Due to the rarity of the disease, data regarding treatment is limited to observational case series and case reports. No randomized trials have been conducted comparing treatment options for UCD.[citation needed]
Complete surgical removal of the enlarged lymph node or region of lymph nodes is considered the gold standard treatment for UCD and is typically curative, with resolution of symptoms and lab abnormalities attributable to the disease.[5]
Occasionally, surgical removal of an enlarged lymph node may be prohibitively high risk at the time of diagnosis due to large size or proximity to critical structures. This is more common with lymph nodes located deep in the chest, which may be close to major airways and blood vessels. In these cases, chemotherapy, immunosuppressive medications, catheter embolization of blood vessels supplying the lymph node, and/or radiation therapy may be used to shrink the involved lymph nodes, potentially reducing the risk of surgery to acceptable levels. If surgical risk remains too high after treatment to shrink the enlarged lymph node, treatments used to reduce the size of the lymph node may be continued to control symptoms related to the disease.[6]
### Follow-up[edit]
After initiation of treatment, patients are regularly evaluated for recurrence of disease and response to treatment with laboratory testing and radiologic imaging.[7]
## Prognosis[edit]
Most people with UCD who undergo complete surgical resection of enlarged lymph nodes achieve long-term disease-free survival, with an observed 10-year mortality of 4% in the largest case series to date.[5]
## Epidemiology[edit]
There are approximately 5000-6000 new cases of UCD diagnosed per year in the United States, making it the most common form of Castleman disease.[8] UCD can occur at any age, but the median age at presentation is approximately 35 years old. There is a slightly increased incidence of UCD in women.[5]
There have been no published epidemiologic studies of Castleman disease outside of the United States; however, there is no evidence of increased or decreased incidence of Castleman disease in specific regions or ethnicities.[citation needed]
## History[edit]
Castleman disease was first described by Dr. Benjamin Castleman in 1956.[9] World Castleman Disease Day was established in 2018 and is held every year on July 23.
### Organizations[edit]
The Castleman Disease Collaborative Network was founded in 2012 and is the largest organization focused on Castleman disease. It is a global collaborative network involved in research, awareness, and patient support.[10]
## References[edit]
1. ^ a b c d e f g Szalat R, Munshi NC (February 2018). "Diagnosis of Castleman Disease". Hematology/Oncology Clinics of North America. 32 (1): 53–64. doi:10.1016/j.hoc.2017.09.005. PMID 29157619.
2. ^ a b Fajgenbaum DC, Shilling D (February 2018). "Castleman Disease Pathogenesis". Hematology/Oncology Clinics of North America. 32 (1): 11–21. doi:10.1016/j.hoc.2017.09.002. PMID 29157613.
3. ^ a b Keller AR, Hochholzer L, Castleman B (March 1972). "Hyaline-vascular and plasma-cell types of giant lymph node hyperplasia of the mediastinum and other locations". Cancer. 29 (3): 670–83. doi:10.1002/1097-0142(197203)29:3<670::aid-cncr2820290321>3.0.co;2-#. PMID 4551306.
4. ^ a b c Fajgenbaum DC, Uldrick TS, Bagg A, Frank D, Wu D, Srkalovic G, et al. (March 2017). "International, evidence-based consensus diagnostic criteria for HHV-8-negative/idiopathic multicentric Castleman disease". Blood. 129 (12): 1646–1657. doi:10.1182/blood-2016-10-746933. PMC 5364342. PMID 28087540.
5. ^ a b c Talat N, Belgaumkar AP, Schulte KM (April 2012). "Surgery in Castleman's disease: a systematic review of 404 published cases". Annals of Surgery. 255 (4): 677–84. doi:10.1097/SLA.0b013e318249dcdc. PMID 22367441.
6. ^ Soumerai JD, Sohani AR, Abramson JS (October 2014). "Diagnosis and management of Castleman disease". Cancer Control. 21 (4): 266–78. doi:10.1177/107327481402100403. PMID 25310208.
7. ^ Casper C (April 2005). "The aetiology and management of Castleman disease at 50 years: translating pathophysiology to patient care". British Journal of Haematology. 129 (1): 3–17. doi:10.1111/j.1365-2141.2004.05311.x. PMID 15801951.
8. ^ Munshi N, Mehra M, van de Velde H, Desai A, Potluri R, Vermeulen J (May 2015). "Use of a claims database to characterize and estimate the incidence rate for Castleman disease". Leukemia & Lymphoma. 56 (5): 1252–60. doi:10.3109/10428194.2014.953145. PMID 25120049.
9. ^ Castleman, B.; Iverson, L.; Menendez, V. P. (July 1956). "Localized mediastinal lymphnode hyperplasia resembling thymoma". Cancer. 9 (4): 822–830. doi:10.1002/1097-0142(195607/08)9:4<822::aid-cncr2820090430>3.0.co;2-4. ISSN 0008-543X. PMID 13356266.
10. ^ Fajgenbaum, David C.; Ruth, Jason R.; Kelleher, Dermot; Rubenstein, Arthur H. (April 2016). "The collaborative network approach: a new framework to accelerate Castleman's disease and other rare disease research". The Lancet. Haematology. 3 (4): e150–152. doi:10.1016/S2352-3026(16)00007-7. ISSN 2352-3026. PMID 27063967.
Classification
D
* ICD-10: D47.Z2
* ICD-9-CM: 785.6
* MeSH: D005871
* DiseasesDB: 2165
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Unicentric Castleman disease | c3898582 | 28,432 | wikipedia | https://en.wikipedia.org/wiki/Unicentric_Castleman_disease | 2021-01-18T18:33:31 | {"gard": ["6005"], "umls": ["C3898582"], "orphanet": ["93685"], "wikidata": ["Q55636535"]} |
A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Warty dyskeratoma | c0334063 | 28,433 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69745 | 2021-01-23T18:11:03 | {"umls": ["C0334063"], "synonyms": ["Follicular dyskeratoma"]} |
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.
Mapping
Guzman et al. (2006) genotyped 56 Spanish pedigrees with hypertensive sib pairs and found excess allele sharing at marker D18S474, with a maximum likelihood of identical by descent sharing lod score of 3.24 both under dominance variance (p = 0.00011) and nondominance variance (p = 0.00005). Nonparametric linkage analysis using all of the available family members produced an NPL of 3.32 (p = 0.00044) on the same marker. Using 2 tagged SNPs (rs1941958 and rs1893379) from the candidate gene MEX3C (611005), Guzman et al. (2006) performed a case-control association study of 112 hypertensive patients and 156 controls, and observed significant overrepresentation of the rs1941958G-rs1893379T MEX3C haplotype in hypertensive patients compared with controls (p = 0.0004 after Bonferroni correction; OR, 2.32). The authors also detected epistatic effects between the 2 MEX3C SNPs (p = 0.002 after Bonferroni correction; OR, 2.48). Guzman et al. (2006) concluded that MEX3C contributes to essential hypertension in Spanish patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8 | c1970244 | 28,434 | omim | https://www.omim.org/entry/611014 | 2019-09-22T16:03:53 | {"omim": ["611014"]} |
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | c4015242 | 28,435 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436245 | 2021-01-23T17:13:52 | {"omim": ["616108"], "icd-10": ["Q87.8"], "synonyms": ["Retinal dystrophy-juvenile cataract-short stature syndrome"]} |
A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac 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
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| True congenital shoulder dislocation | c0265562 | 28,436 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295030 | 2021-01-23T17:15:16 | {"umls": ["C0265562"], "icd-10": ["Q68.8"]} |
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.
In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often noticeable in infancy. The amount of hair decreases over time, but the growth rate and texture of the hair that is present is normal. Affected adults generally have very little hair. In rare cases, the amount of scalp hair increases over time. As affected individuals age, their eyebrows may become less full, but their eyelashes almost always remain normal. At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.
Most affected individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow.
The characteristic facial features of people with Nicolaides-Baraitser syndrome include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip. Many affected individuals have a lack of fat under the skin (subcutaneous fat) of the face, which may cause premature wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome may have pale skin with veins that are visible on the skin surface due to the lack of subcutaneous fat.
In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap).
Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication.
Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums.
Other signs and symptoms of Nicolaides-Baraitser syndrome include an inflammatory skin disorder called eczema. About half of individuals with Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals have dental abnormalities such as widely spaced teeth, delayed eruption of teeth, and absent teeth (hypodontia). Most affected males have undescended testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half of individuals with Nicolaides-Baraitser syndrome have feeding problems.
## Frequency
Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.
## Causes
Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. To provide energy for chromatin remodeling, the SMARCA2 protein uses a molecule called ATP.
The SMARCA2 gene mutations that cause Nicolaides-Baraitser syndrome result in the production of an altered protein that interferes with the normal function of the SWI/SNF complexes. These altered proteins are able to form SWI/SNF complexes, but the complexes are nonfunctional. As a result, they cannot participate in chromatin remodeling. Disturbance of this regulatory process alters the activity of many genes, which likely explains the diverse signs and symptoms of Nicolaides-Baraitser syndrome.
### Learn more about the gene associated with Nicolaides-Baraitser syndrome
* SMARCA2
## Inheritance Pattern
Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. 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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Nicolaides-Baraitser syndrome | c1303073 | 28,437 | medlineplus | https://medlineplus.gov/genetics/condition/nicolaides-baraitser-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["270"], "mesh": ["C536116"], "omim": ["601358"], "synonyms": []} |
## Description
The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males (Opitz et al., 1993; Wulfsberg et al., 1996).
Clinical Features
Opitz et al. (1993) reported a 'new' form of acrofacial dysostosis in a Sicilian woman and her 4 sons. Features included mild intrauterine growth retardation and postnatal shortness of stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, mild pre- and more conspicuous postaxial upper limb involvement with short hands, simian creases, mild interdigital webbing, low total ridge count, and facultative preauricular fistulae, cryptorchidism, hypospadias, inguinal hernia, and spina bifida occulta of C1. The mother was as severely affected as her sons.
Wulfsberg et al. (1996) described a similar phenotype in a 5-year-old girl and her mother. In addition to typical manifestations of the syndrome, the mother presented with carious teeth in the lower jaw, and an edentulous upper jaw due to previous extraction of severely carious teeth.
Aguirre-Guillen et al. (2015) reported a female infant, born to healthy, unrelated parents, with typical features of the Catania type of acrofacial dysostosis, including short stature, malar hypoplasia, micrognathia, ear anomalies, downslanting palpebral fissures, prominent nose, webbed neck, hair anomalies, brachydactyly, single palmar crease, and spina bifida occulta. The patient did not have microcephaly, but brain imaging showed hypoplasia of the corpus callosum, cortical atrophy predominantly in the frontal region, cerebellar vermis hypoplasia, and large cisterna magna. The patient died at age 5 months from asphyxiation caused by food aspiration.
Inheritance
Although X-linked dominant inheritance of this form of acrofacial dysostosis was possible, Opitz et al. (1993) considered autosomal dominant inheritance more likely in the family they reported because the mother was as severely affected as her sons.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature, postnatal Other \- Intrauterine growth retardation HEAD & NECK Head \- Microcephaly Ears \- Preauricular fistulas Mouth \- Mandibulofacial dysostosis without cleft palate Teeth \- Carious teeth GENITOURINARY External Genitalia (Male) \- Cryptorchidism \- Hypospadias SKELETAL Spine \- Spina bifida occulta of C1 Hands \- Short hands \- Single transverse palmar crease \- Interdigital webbing SKIN, NAILS, & HAIR Skin \- Low total ridge count Hair \- Widow's peak ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ACROFACIAL DYSOSTOSIS, CATANIA TYPE | c2931762 | 28,438 | omim | https://www.omim.org/entry/101805 | 2019-09-22T16:45:29 | {"doid": ["0060384"], "mesh": ["C538182"], "omim": ["101805"], "orphanet": ["1786"], "synonyms": ["Alternative titles", "AFD, CATANIA TYPE"]} |
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Amaurosis-hypertrichosis syndrome | c1857588 | 28,439 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1021 | 2021-01-23T17:43:35 | {"gard": ["637"], "mesh": ["C536604"], "omim": ["204110"], "umls": ["C1857588"], "icd-10": ["H35.5"]} |
Laboratory animal allergy (LAA) is an occupational disease of laboratory animal technicians and scientists.[1][2] It manifests as an allergic response to animal urine, specifically the major urinary proteins (Mups) of rodents, and can lead to the development of asthma.[3] A study of 5641 workers in Japan who were exposed to laboratory animals found 23.1% had one or more allergic symptoms; globally the prevalence among at risk workers is estimated between 11 and 30% [4] According to the National Institutes of Health, prevention of animal allergy depends on the control of allergens in the work environment. This involves a combination of measures to eliminate or control allergen exposure, including engineering controls, administrative controls, and personal protective equipment.[5]
The protein product of the mouse Mup17 gene,[6] known as Mus m 1, Ag1 or MA1,[7] accounts for much of the allergenic properties of mouse urine. Similarly, the product of the rat Mup13 gene, Rat n 1, is also a potent human allergen.[3] One study found that two thirds of laboratory workers who had developed asthmatic reactions to animals had antibodies to Rat n 1.[8]
## Notes[edit]
1. ^ Gordon S, Preece R (September 2003). "Prevention of laboratory animal allergy". Occupational Medicine. 53 (6): 371–7. doi:10.1093/occmed/kqg117. PMID 14514903.
2. ^ Wood RA (2001). "Laboratory animal allergens". ILAR Journal. 42 (1): 12–6. doi:10.1093/ilar.42.1.12. PMID 11123185.
3. ^ a b Lockey, Richard; Ledford, Dennis K. (2008). "Mammalian Allergens". Allergens and Allergen Immunotherapy. Volume 21 of Clinical allergy and immunology. Informa Health Care. pp. 201–218. ISBN 978-1-4200-6197-0.
4. ^ Aoyama K, Ueda A, Manda F, Matsushita T, Ueda T, Yamauchi C (January 1992). "Allergy to laboratory animals: an epidemiological study". British Journal of Industrial Medicine. 49 (1): 41–7. doi:10.1136/oem.49.1.41. PMC 1039233. PMID 1733454.
5. ^ The National Institutes of Health Laboratory Animal Allergy Prevention Program [1]
6. ^ Garg LC, Narang N (1989). "Suppression of ouabain-insensitive K-ATPase activity in rabbit nephron segments during chronic hyperkalemia". Renal Physiology and Biochemistry. 12 (5–6): 295–301. doi:10.1159/000173206. PMID 2533699.
7. ^ Lorusso JR, Moffat S, Ohman JL (November 1986). "Immunologic and biochemical properties of the major mouse urinary allergen (Mus m 1)". The Journal of Allergy and Clinical Immunology. 78 (5 Pt 1): 928–37. doi:10.1016/0091-6749(86)90242-3. PMID 3097107.
8. ^ Platts-Mills TA, Longbottom J, Edwards J, Cockroft A, Wilkins S (March 1987). "Occupational asthma and rhinitis related to laboratory rats: serum IgG and IgE antibodies to the rat urinary allergen". The Journal of Allergy and Clinical Immunology. 79 (3): 505–15. doi:10.1016/0091-6749(87)90369-1. PMID 3819230.
* v
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Allergic conditions
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Occupational safety and health
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Laboratory animal allergy | c1279265 | 28,440 | wikipedia | https://en.wikipedia.org/wiki/Laboratory_animal_allergy | 2021-01-18T18:34:11 | {"wikidata": ["Q6467269"]} |
A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.
## Epidemiology
Duane retraction syndrome (DRS) prevalence is estimated at between 1/1000 and 1/10,000 in the general population, representing approximately 1-5% of all strabismus cases. Females are more frequently affected than males.
## Clinical description
DRS is a congenital disorder, characterized by non-progressive horizontal ophthalmoplegia without ptosis. Vertical eye movement abnormalities may be observed, including upshoot or downshoot on adduction. Isolated, simplex DRS is usually unilateral and the left eye is more commonly affected. At birth, affected infants have restricted abduction and/or adduction, though it may not be appreciated immediately. Most individuals with DRS have strabismus in primary gaze but can use a compensatory head position to align the eyes, avoiding diplopia. Development of amblyopia is possible. The majority of DRS cases (70%) are not associated with other anomalies. DRS can be classified based on the extent of abduction and adduction: limited or absent abduction with normal or slightly limited adduction (type I) , normal or mildly restricted abduction with limited or absent adduction (type II), absent or limited abduction and adduction (type III). In all types, there is globe retraction with narrowing of palpebral fissure on attempted adduction.
## Etiology
DRS results from abnormal development of the pontine abducens nucleus or nerve, unilaterally or bilaterally, leading to failure of the normal innervation of the lateral rectus muscle on the affected side. This results in limited abduction and horizontal gaze palsy. Globe retraction and fissure narrowing are due to co-contraction of the medial and lateral rectus muscles on attempted adduction, which is itself secondary to aberrant innervation of the lateral rectus by the oculomotor nerve. Identified genetic pathogenic variants include CHN1 or MAFB and rarely, SALL4.
## Diagnostic methods
Diagnosis of DRS is based on clinical features. Magnetic resonance imaging of the brainstem reveals small or absent abducens nerves (CNVI). In individuals with DRS due to CHN1 mutations, the optic (CNII), oculomotor (CNIII) and/or trochlear (CNIV) nerves may also be hypoplastic.
## Differential diagnosis
Differential diagnosis of isolated DRS includes syndromic forms of DRS such as Duane-radial ray syndrome (Okihiro syndrome), Townes-Brocks syndrome, acro-renal-ocular syndrome, Bosley-Salih-Alorainy and Athabaskan brainstem dysgenesis-related disorders, Wildervanck syndrome, and oculo-auriculo-vertebral spectrum. Syndromic DRS can also arise from chromosomal anomalies and copy number variants, primarily on chromosome 8. Differential diagnosis of DRS also includes Moebius syndrome, congenital fibrosis of extraocular muscles, and isolated horizontal gaze palsy without globe retraction with or without progressive scoliosis (HGPPS).
## Antenatal diagnosis
Prenatal and preimplantation genetic testing for at-risk pregnancies is possible if a pathogenic variant has been identified in a family.
## Genetic counseling
Most cases are sporadic, but up to 10% of patients have affected relatives. When inherited, isolated DRS most commonly segregates in families as an autosomal dominant trait but autosomal recessive inheritance is also possible. In familial forms, DRS is often bilateral; however, incomplete penetrance and variable expressivity can complicate assessments.
## Management and treatment
Management of DRS is mainly supportive and involves wearing spectacles or contact lenses to correct refractive errors, occlusion or penalization of the better-seeing eye for treatment of amblyopia, or prisms to correct for abnormal head posture. Eye muscle surgery may be indicated to correct abnormal head position, to align the eyes in primary gaze, or to correct for upshoot or downshoot on adduction. However, surgery does not restore full normal eye movements. Surveillance is necessary to detect and prevent amblyopia. Vision therapy is advised for secondary convergence insufficiency.
## Prognosis
Isolated DRS is a benign disorder that, if managed appropriately, results in excellent long-term prognosis for vision. In some cases, amblyopia or loss of binocular single vision might develop.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Duane retraction syndrome | c0013261 | 28,441 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=233 | 2021-01-23T17:53:50 | {"gard": ["6288"], "mesh": ["D004370"], "omim": ["126800", "604356", "616219", "617041"], "umls": ["C0013261"], "icd-10": ["H50.8"], "synonyms": ["DRS", "DURS", "Duane syndrome", "Stilling-Turk-Duane syndrome"]} |
Occupational acne
SpecialtyDermatology
Occupational acne is caused by several different groups of industrial compounds, including coal tar derivatives, insoluble cutting oils, and chlorinated hydrocarbons (chlornaphthalenes, chlordiphenyls, and chlordiphenyloxides).[1][2]:499
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 684. McGraw-Hill. ISBN 0-07-138076-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-10: L70.8 (ILDS L70.838)
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Occupational acne | c0343077 | 28,442 | wikipedia | https://en.wikipedia.org/wiki/Occupational_acne | 2021-01-18T19:10:24 | {"icd-10": ["L70.8"], "wikidata": ["Q3604582"]} |
Complement 2 deficiency
SpecialtyHematology
Complement 2 deficiency is a type of complement deficiency caused by any one of several different alterations in the structure of complement component 2.
It has been associated with an increase in infections.[1][2]
It can present similarly to systemic lupus erythematosus (SLE).[3]
## References[edit]
1. ^ Alper CA, Xu J, Cosmopoulos K, et al. (July 2003). "Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency" (PDF). J. Clin. Immunol. 23 (4): 297–305. doi:10.1023/A:1024540917593. PMID 12959222.
2. ^ Sherwood L. Gorbach; John G. Bartlett; Neil R. Blacklow (2004). Infectious diseases. Lippincott Williams & Wilkins. pp. 11–. ISBN 978-0-7817-3371-7. Retrieved 30 May 2010.
3. ^ Parija (2009-01-01). Textbook of Microbiology & Immunology. Elsevier India. pp. 125–. ISBN 978-81-312-2163-1. Retrieved 13 November 2010.
## External links[edit]
Classification
D
* ICD-10: D84.1
* ICD-9-CM: 279.8
* OMIM: 217000
* DiseasesDB: 1847
* SNOMED CT: 234599007
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
This article about a disease of the blood or immune system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Complement 2 deficiency | c3150275 | 28,443 | wikipedia | https://en.wikipedia.org/wiki/Complement_2_deficiency | 2021-01-18T19:00:27 | {"gard": ["1452"], "umls": ["C3150275"], "icd-9": ["279.8"], "orphanet": ["169147"], "wikidata": ["Q5156399"]} |
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Distal monosomy 7q36 | c4706504 | 28,444 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1636 | 2021-01-23T18:15:29 | {"icd-10": ["Q93.5"], "synonyms": ["Distal deletion 7q36", "Monosomy 7qter", "Telomeric deletion 7q36"]} |
A number sign (#) is used with this entry because congenital sucrose-isomaltase malabsorption is caused by homozygous or compound heterozygous mutation in the SI gene (609845), which encodes sucrose-isomaltase, on chromosome 3q26.
Clinical Features
A deficiency of sucrase-isomaltase, an integral protein of the small intestine brush-border membrane responsible for catalyzing the hydrolysis of dietary sucrose and some of the products of starch digestion, results in osmotic diarrhea when the disaccharide is ingested, because absorption cannot occur until after hydrolysis produces the component monosaccharides. Hauri et al. (1985) identified sucrase-isomaltase immunologically in biopsy specimens from a child with congenital deficiency of the enzyme. Since the size of the protein was consistent with incomplete glycosylation and the protein could not be identified in the brush-border membrane by immune electron microscopy, the authors suggested that the deficiency was the consequence of a defect in intracellular transport. Lloyd and Olsen (1987) demonstrated a severe defect in intracellular processing of the enzyme.
Newton et al. (1996) reported 4 infants with congenital sucrase-isomaltase deficiency. While the onset of symptoms ranged from 2 to 16 weeks, delayed diagnosis led to severe malnutrition in these infants. The authors commented that the population prevalence may be more common than presently recognized. This entity deserves consideration in the differential diagnosis for infants with persistent, watery diarrhea upon ingesting formula that contains glucose polymer.
A symptomatic form of SI deficiency in adults and late in onset was described by Jansen et al. (1965). By studies at the subcellular and protein level with monoclonal antibodies against sucrase-isomaltase, Naim et al. (1988) identified at least 3 phenotypes among 8 cases: 1 in which sucrase-isomaltase accumulated intracellularly, probably in the endoplasmic reticulum, as a membrane-associated high-mannose precursor; 1 in which the intracellular transport of the enzyme was apparently blocked in the Golgi apparatus; and 1 in which catalytically altered enzyme was transported to the cell surface. In all patients, electrophoretically normal or near-normal high-mannose sucrase-isomaltase was demonstrated. Apparently, different mutations in the sucrase-isomaltase gene lead to the synthesis of transport-incompetent or functionally altered enzyme.
Starnes and Welsh (1970) noted association of intestinal sucrase deficiency with renal calculi. The stones were predominantly calcium oxalate in 1 case. Reports of multiple affected sibs (e.g., Kerry and Townley, 1965) and consanguineous parents (e.g., Jansen et al., 1965) support recessive inheritance. Homozygotes have severe enzyme deficiency with clinical symptoms throughout life. Heterozygotes have intermediate enzyme values and no symptoms in adulthood, but may have mild symptoms in infancy.
Gray et al. (1976) found complete absence of sucrase-isomaltase by both enzymatic and antigenic measures.
Treem (1995) provided a review.
Treem (1996) discussed phenotypic heterogeneity in patients, noting that presentation in patients with CSID can include severe diarrhea and failure to thrive in infancy, 'chronic nonspecific diarrhea' without growth failure in toddlers, and 'irritable bowel syndrome' in adolescents and adults. Studies of the sucrase-isomaltase enzyme in patients with CSID (e.g., Fransen et al., 1991) indicated abnormalities of intracellular processing (glycosylation and folding), intracellular transport, and homing and insertion of the enzyme into the brush-border membrane. In most patients, both sucrase and isomaltase activities are completely absent; however, in some the mature enzyme is found inserted into the brush-border membrane and the mutation affects only the catalytic site of sucrase, leaving sucrase activity absent and isomaltase activity reduced by 50 to 90%.
Five different phenotypes of sucrase-isomaltase deficiency have been identified (Hauri et al., 1985; Fransen et al., 1991). Ouwendijk et al. (1996) described phenotypes I and II as exhibiting intracellular accumulation of mannose-rich SI in the ER and the Golgi, respectively. In phenotype III, an enzymatically inactive, but transport-competent, SI is expressed. Phenotype IV expresses a partially folded, mannose-rich SI molecule that is missorted to the basal lateral membrane. Phenotype V shows an SI species that undergoes intracellular degradation leaving behind the isomaltase subunit that is correctly targeted to the brush border membrane.
Population Genetics
Peterson and Herber (1967) found that intestinal sucrase deficiency is a cause of diarrhea in adults and has a frequency of almost 0.2%. According to McNair et al. (1972), 10% of Greenland Eskimos have sucrose intolerance and the frequency is probably increased in Alaskan Eskimos (Ament et al., 1973). Gray et al. (1976) suggested that the deficiency is present in 0.2% of North Americans.
Clinical Management
Peterson and Herber (1967) noted that enzyme of fungal origin is effective treatment.
Harms et al. (1987) found that lyophilized yeast by mouth is an effective treatment for sucrase-isomaltase deficiency. The test they used for this, the sucrose hydrogen breath test, is based on the fact that hydrogen is released from the malabsorbed sucrose by the colonic microflora. In vitro, yeast has appreciable sucrase activity, a low isomaltase and maltase activity, and virtually no lactase activity. The sucrase activity is inhibited by undiluted gastric juice to a greater extent than by diluted gastric juice; therefore, the yeast should be given on a full stomach. Lyophilized yeast may be poorly accepted by young children. Treem (1996) reported preliminary results of using an invertase preparation as another possible treatment. The invertase (beta-fructofuranosidase) preparation had the advantage of being odorless and tasteless, stable with refrigeration, and effective at low pH. Invertase hydrolyzes only sucrose (in vitro) and reduced or eliminated symptoms in 14 patients.
Molecular Genetics
In a patient with CSID, Ouwendijk et al. (1996) identified a homozygous mutation in the SI gene (Q1098P; 609845.0001).
Jacob et al. (2000) identified an L340P mutation (609845.0002) that resulted in an unusual intracellular cleavage of SI in the endoplasmic reticulum. Spodsberg et al. (2001) identified a Q117R mutation (609845.0003) that elicited missorting of the enzyme to the basolateral membrane. Ritz et al. (2003) detected an L620P mutation (609845.0004) that caused a block in the endoplasmic reticulum.
Sander et al. (2006) analyzed the sucrase-isomaltase gene in 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency who had none of the previously identified mutations. Their analyses revealed 43 SI variants in total, 15 within exons and 1 at a splice site. Amino acid exchanges resulted from 8 of the exonic mutations, causing hypomorphic or null alleles. The splice site mutation was predicted to result in a null allele. All potential pathologic alterations were present on 1 allele only. In 6 of the 11 patients, the phenotype of CSID could be explained by compound heterozygosity.
History
Dahlqvist (1967) gave a useful review of the small intestinal disaccharidases in man. He recognized 6 of these, so presumably 6 unitary defects plus many combined defects might occur. The 6 disaccharidases are maltase IA, maltase IB (invertase), maltase II, maltase III, lactase (603202), and trehalase (275360). Maltose and lactose are well tolerated in 'sucrose intolerance.' See Durand (1964) for a symposium on this group of disorders.
INHERITANCE \- Autosomal recessive ABDOMEN Gastrointestinal \- Malabsorption \- Diarrhea \- Disaccharide intolerance GENITOURINARY Kidneys \- Renal calculi LABORATORY ABNORMALITIES \- Sucrase-isomerase deficiency MOLECULAR BASIS \- Caused by mutation in the sucrase-isomaltase gene (SI, 609845.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL | c1283620 | 28,445 | omim | https://www.omim.org/entry/222900 | 2019-09-22T16:28:41 | {"mesh": ["C538139"], "omim": ["222900"], "icd-10": ["E74.31"], "orphanet": ["35122"], "synonyms": ["Alternative titles", "DISACCHARIDE INTOLERANCE I", "SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL", "SUCROSE INTOLERANCE, CONGENITAL", "SI DEFICIENCY"]} |
A coal-fired power plant with ash ponds
Coal ash, also known as coal combustion residuals (CCRs), is the mineral residue that remains from burning coal. Exposure to coal ash and to the toxic substances it contains may pose a health risk to workers in coal-fired power plants and residents living near coal ash disposal sites.
## Contents
* 1 Background
* 2 Occupational health concerns
* 3 Health effects of toxic constituents found in coal ash
* 4 Coal ash reuse
* 5 Coal ash waste regulations
* 6 References
## Background[edit]
Coal ash is produced at coal-fired power plants.[1] Coal is pulverized and then burned to generate electricity.[2] The particles that remain after burning coal are called coal ash, principally consisting of fly ash and bottom ash. Other coal combustion by-products are boiler slag, flue gas desulfurization gypsum, and other kinds of flue gas desulfurization residues.[1] Depending on the type of coal that was burned, the chemical composition found in coal ash can vary.[3] Coal ash obtained from the combustion of bituminous coal is constituted principally of aluminum oxide (Al2O3), calcium oxide (CaO) and silicon dioxide (SiO2).[3] In the composition of coal, there are many potentially hazardous substances that, if found at elevated concentration in inhaled particles, can cause major health problems in humans.[4][5] Such constituents that are found at various concentrations in coal ash are arsenic, cadmium, chromium, cobalt, copper, lead, lithium, mercury, molybdenum, selenium, thallium and uranium.[4][5]
Coal ash in India has been stored in ash ponds and has contaminated surrounding land and water bodies.[6] In the United States approximately 110 million tons of coal ash were generated in 2012.[1] More than half of the coal ash produced in the US was dumped into ash ponds (surface impoundments; wet disposal) or landfills (dry disposal).[5] As of 2020 there are 310 active on-site landfills and 735 active on-site surface impoundments in the US.[7]
## Occupational health concerns[edit]
Coal ash contains many toxic substances that may affect human health, if people are exposed to them above a certain concentration in the form of particulate matter. So it is necessary to avoid situations in which employees working in coal-fired power plants or public members living close to coal ash landfills will be exposed to high coal ash dust concentrations.[4] Coal ash dust health effects can be considered as a particular case of exposure to particulate matter (particle pollution). Accordingly the health risk of the smallest coal ash particles (respirable particles) has to be evaluated, since they can enter into the lungs.[4] In order to evaluate this risk, levels of exposure of workers or members of the public to particulate matter are compared with "safe threshold levels". Regarding the health of workers, the ACGIH[clarification needed] publishes annually a booklet with tables presenting threshold level values (TLV's) - maximal concentrations allowed - for a wide range of substances and materials. Particles of coal ash belong to a category called "PNOS - Particles Not Otherwise Specified". For this category, otherwise known as "nuisance dust", the TLV value is 3 mg/m3 for respirable particles (smaller than 10 micrometers). [8]
## Health effects of toxic constituents found in coal ash[edit]
This section may stray from the topic of the article. Please help improve this section or discuss this issue on the talk page. (June 2020)
Lead: The direct exposure to lead can cause major damage to the nervous system.[5] Lead exposure can lead to kidney disease, hearing impairment, high blood pressure, delays in development, swelling of the brain, hemoglobin damage, and male reproductive problems.[9][10] Both low levels and high levels of lead exposure can cause harm to the human body.[9]
Cadmium: The direct exposure to high levels of cadmium is hazardous to the health.[5] More specifically, the lungs directly absorb cadmium into the bloodstream.[9] When humans are exposed to cadmium over a long period of time, kidney disease and lung disease can occur.[5][9] In addition, cadmium exposure can be associated with hypertension.[5] Lastly, chronic exposure of cadmium can cause bone weakness which increases the risk of bone fractures and osteoporosis.[5]
Chromium: The direct exposure to chromium (VI) is hazardous to health. High levels of chromium (VI) in drinking water can cause ulcers in the small intestine and stomach when ingested. Lastly, skin ulcers can also occur when the exposure to chromium (VI) occurs through the skin.
Arsenic: When high amounts of arsenic is inhaled or ingested through coal ash waste, diseases such as bladder cancer, skin cancer, kidney cancer and lung cancer can develop.[5][11] Ultimately, exposure of arsenic over a long period of time can cause mortality.[5] Furthermore, low levels of arsenic exposure can cause irregular heartbeats, nausea, diarrhea, vomiting, peripheral neuropathy and vision impairment.[9][5]
Mercury: Chronic exposure of mercury from coal ash can cause harm to the nervous system.[5] When mercury is inhaled or ingested various health effects can occur such as vision impairment, seizures, numbness, memory loss and sleeplessness.[12][13]
Boron: When coal ash dust is inhaled, the exposure of boron can cause discomfort in the throat, nose and eye.[5] Moreover, when coal ash waste is ingested, boron exposure can be associated with kidney, liver, brain, and intestine impairment.[5]
Molybdenum: When molybdenum is inhaled from coal ash dust, discomfort of the nose, throat, skin and eye can occur.[14] As a result, short-term molybdenum exposure can cause an increase of wheezing and coughing.[14] Furthermore, chronic exposure of molybdenum can cause loss of appetite, tiredness, headaches and muscle soreness.[5][14]
Thallium: The exposure of thallium in coal ash dust can cause peripheral neuropathy when inhaled.[5] Furthermore, when coal ash is ingested, thallium exposure can cause diarrhea and vomiting.[5] In addition, thallium exposure is also associated with heart, liver, lung and kidney complications.[5]
Silica: When silica is inhaled from coal ash dust, fetal lung disease or silicosis can develop.[4] Furthermore, chronic exposure of silica can cause lung cancer.[4] In addition, exposure to silica over a period of time can cause loss of appetite, poor oxygen circulation, breathing complications and fever.[4]
## Coal ash reuse[edit]
Reuse of coal ash benefits the environment by reducing the production of greenhouse gas and reducing the need to use virgin materials.[15] In addition, when coal ash is recycled, costs related to coal ash disposal sites are avoided.[5][15]
There are two forms of coal ash recycling: “encapsulated” and “unencapsulated."[5][15] When coal ash is bound to other materials it is encapsulated.[5] For example, coal ash can be reused in making concrete, bricks and wallboards.[15] On the other hand, unencapsulated use of coal ash is when the ash is not bound to other materials (loose particulate or sludge form).[5][15] An example of unencapsulated coal ash is distributing the ash on icy roads in the winter.[5]
Even though reusing coal ash minimizes health effects in humans, health problems can still occur when coal ash is recycled.[5] Specifically, workers drilling or cutting encapsulated coal ash increase their risk of inhaling coal ash dust.[5] In addition, when unencapsulated coal ash is scattered on snowy streets in the winter, the loose ash can come in contact with ditches on the side of the road.[5] As a result, the toxins from coal ash can leach into surface water bodies as well as groundwater, which may be drinking water sources.[5] Therefore, both forms of recycled coal ash (encapsulated and unencapsulated) can cause serious health issues in humans.
## Coal ash waste regulations[edit]
The examples and perspective in this section may not represent a worldwide view of the subject. You may improve this section, discuss the issue on the talk page, or create a new section, as appropriate. (June 2020) (Learn how and when to remove this template message)
In the United States, when coal ash is disposed into surface impoundments and landfills, the ash is regulated as a "Special Waste" (i.e., non-hazardous) under the Resource Conservation and Recovery Act (RCRA).[16]
EPA published a Coal Combustion Residuals (CCR) regulation in 2015. The agency continued to classify coal ash as non-hazardous (thereby avoiding strict permitting requirements under RCRA Subtitle C), but with new restrictions:
1. Existing ash ponds that are contaminating groundwater must stop receiving CCR, and close or retrofit with a liner.
2. Existing ash ponds and landfills must comply with structural and location restrictions, where applicable, or close.
3. A pond no longer receiving CCR is still subject to all regulations unless it is dewatered and covered by 2018.
4. New ponds and landfills must include a geomembrane liner over a layer of compacted soil.[17]
In 2016, the United States Court of Appeals for the District of Columbia Circuit vacated the "early closure" provisions in the regulation at 40 CFR 257.100. EPA then extended the compliance date for inactive ponds that attempted to utilize the early closure provisions.[18] In 2018, at the request of industry, EPA extended the compliance date for unlined ash ponds from 2019 to 2020, and provided more flexibility to state agencies in determining compliance with standards.[19][20] The 2018 regulation was challenged in litigation and remanded by the court to EPA for further revision. The court ruled that EPA failed to adequately address the problems with unlined ponds, many of which continue to leak into groundwater.[21] In 2019, the court agreed to a voluntary remand while allowing the 2020 compliance deadline for unlined ponds to stay in effect, pending further rulemaking.[22]
EPA published a proposed rule on August 14, 2019 that would use location-based criteria, rather than a numerical threshold (i.e. impoundment or landfill size) that would require an operator to demonstrate minimal environmental impact so that a site could remain in operation.[23]
In response to litigation on the 2015 regulation, EPA published a final RCRA regulation on August 28, 2020 requiring all unlined ash ponds to retrofit with liners or close by April 11, 2021. Some facilities may apply to obtain additional time—up to 2028—to find alternatives for managing ash wastes before closing their surface impoundments.[24][25]
## References[edit]
1. ^ a b c "Coal Ash Basics". Washington, D.C.: U.S. Environmental Protection Agency (EPA). 2020-06-04.
2. ^ "Electricity from coal". How Energy Works. Charlotte, NC: Duke Energy. Retrieved 2020-06-19.
3. ^ a b "Coal Ash: Characteristics, Management and Environmental Issues" (PDF). Electric Power Research Institute. Retrieved 3 March 2016.
4. ^ a b c d e f g Lockwood, Alan H.; Evans, Lisa. "How Breathing Coal Ash Is Hazardous To Your Health" (PDF). Physicians for Social Responsibility. Retrieved 3 March 2016.
5. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Gottlieb, Barbara; Gilbert, Steven G.; Evans, Lisa Gollin. "Coal Ash The toxic threat to our health and environment" (PDF). Physicians for Social Responsibility. Retrieved 3 March 2016.
6. ^ Hemalatha, Karthikeyan (2019-02-13). "Fed up with fly ash, India villagers fight back against power plants". Deutsche Welle. Berlin.
7. ^ "Coal Ash Storage". Southeast Coal Ash. Knoxville, TN: Southern Alliance for Clean Energy. Retrieved 2020-06-19.
8. ^ ACGIH 2012, Threshold limit values and biological exposure indices for chemical substances & physical agents, American Conference of Governmental Industrial Hygienists, Cincinnati, OH.
9. ^ a b c d e "Coal Ash Toxics: Damaging to Human Health" (PDF). Physicians for Social Responsibility. Retrieved 3 March 2016.
10. ^ "Lead and compounds (inorganic); CASRN 7439-92-1" (PDF). United States Environmental Protection Agency. Retrieved 3 March 2016.
11. ^ "Arsenic Toxicity What are the Routes of Exposure for Arsenic?". Agency for Toxic Substances and Disease Registry. Retrieved 3 March 2016.
12. ^ "Mercury and health". World Health Organization. Retrieved 3 March 2016.
13. ^ "Mercury". MedlinePlus. United States National Library of Medicine.
14. ^ a b c "Right to Know Hazardous Substance Fact Sheet" (PDF). New Jersey Department of Health. Retrieved 3 March 2016.
15. ^ a b c d e "Coal Ash Reuse". Coal Ash. United States Environmental Protection Agency. Retrieved 1 April 2016.
16. ^ "Special Wastes". Hazardous Waste. EPA. 2018-11-29.
17. ^ EPA. "Hazardous and Solid Waste Management System; Disposal of Coal Combustion Residuals From Electric Utilities; Final rule." Federal Register, 80 FR 21301, 2015-04-17.
18. ^ EPA. "Extension of Compliance Deadlines for Certain Inactive Surface Impoundments; Response to Partial Vacatur." 81 FR 51802, 2016-08-05.
19. ^ EPA. "Amendments to the National Minimum Criteria (Phase One, Part One)." 83 FR 36435, 2018-07-30.
20. ^ Eilperin, Juliet; Dennis, Brady (2018-07-17). "EPA eases rules on how coal ash waste is stored across U.S." The Washington Post.
21. ^ "DC Circuit Rules EPA Dropped Ball on Coal Ash Storage Rules". Courthouse News Service. 2018-08-22.
22. ^ Green, Douglas H.; Houlihan, Michael (2019-04-24). "D.C. Circuit Court Remands CCR Deadline Extension to EPA". Environment, Energy, and Resources Section. Washington, DC: American Bar Association.
23. ^ EPA. "Hazardous and Solid Waste Management System: Disposal of Coal Combustion Residuals from Electric Utilities; Enhancing Public Access to Information; Reconsideration of Beneficial Use Criteria and Piles; Proposed Rule." Federal Register, 84 FR 40353. 2019-08-14.
24. ^ EPA. "Hazardous and Solid Waste Management System: Disposal of Coal Combustion Residuals From Electric Utilities; A Holistic Approach to Closure Part A: Deadline To Initiate Closure." 85 FR 53516. 2020-08-28.
25. ^ "Revisions to the Coal Combustion Residuals (CCR) Closure Regulations; Fact sheet". EPA. July 2020.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Health effects of coal ash | None | 28,446 | wikipedia | https://en.wikipedia.org/wiki/Health_effects_of_coal_ash | 2021-01-18T18:31:26 | {"wikidata": ["Q23580836"]} |
Hepatitis X
SpecialtyHepatology
Non-A-E hepatitis, also known as hepatitis X, is an infectious disease of the liver referring to a case of viral hepatitis that cannot be attributed to hepatitis A, B, C, D, or E. The disease involves swelling and inflammation of the liver. Symptoms of non-A-E hepatitis may include tiredness, nausea, vomiting, abdomen pain, and a fever. The specific cause of non-A-E hepatitis is unknown.[1]
## References[edit]
1. ^ "Non-A-E hepatitis". Genetic and Rare Diseases Information Center. U.S. Department of Health & Human Services. Retrieved March 26, 2019.
## Further reading[edit]
* Parana, R.; Andrade, Z.; Freitas, L.; Codes, L.; Santos-Jesus, R.; Cotrim, H.; Lyra, L.; Trepo, C. (2001). "Clinical, biochemical and histological features of acute non A-E hepatitis in northeastern Brazil". Journal of Hepatology. 34: 179. doi:10.1016/S0168-8278(01)81533-6.
* Alter, Miriam J.; Gallagher, Margaret; Morris, Timothy T.; Moyer, Linda A.; Meeks, Emory L.; Krawczynski, Krzysztof; Kim, Jungsuh P.; Margolis, Harold S. (1997). "Acute Non-A–E Hepatitis in the United States and the Role of Hepatitis G Virus Infection". N Engl J Med. 336 (11): 741–746. doi:10.1056/NEJM199703133361101. PMID 9052651.
* Paraná, Raymundo; Codes, Liana; Andrade, Zilton; De Freitas, Luiz A.R.; Santos-Jesus, Rogério; Reis, Mitermayer; Cotrim, Helma; Cunha, Simone; Trepo, Christian (2003). "Clinical, histologic and serologic evaluation of patients with acute non-A-E hepatitis in north-eastern Brazil: is it an infectious disease?". International Journal of Infectious Diseases. 7 (3): 222–230. doi:10.1016/S1201-9712(03)90056-7.
* "The relationship of hepatitis X of dogs and moldy corn poisoning of swine". Journal of the American Veterinary Medical Association.
* Erker, J. C.; Simons, J. N.; Muerhoff, A. S.; Leary, T. P.; Chalmers, M. L.; Desai, S. M.; Mushahwar, I. K. (1996). "Molecular cloning and characterization of a GB virus C isolate from a patient with non-A-E hepatitis". Journal of General Virology. 77 (11): 2713–2720. doi:10.1099/0022-1317-77-11-2713. PMID 8922464.
* Fabris, Paolo; Biasin, Maria Raffaella; Infantolino, Domenico; Tositti, Giulia; Venza, Enzo; Floreani, Annarosa; Zanetti, Alessandro; Lalla, Fausto de (2000). "TTV infection in patients with acute hepatitis of defined aetiology and in acute non-A-E hepatitis". Journal of Hepatology. 32 (4): 661–665. doi:10.1016/S0168-8278(00)80229-9. PMID 10782916.
* Leary, Thomas P.; Muerhoff, Scott; Simons, John N.; Pilot-Matias, Tami J.; Erker, James C.; Chalmers, Michelle L.; Schalauder, George G.; Dawson, George J.; Desai, Suresh M.; Mushahwar, Isa K. (1996). "Sequence and genomic organization of GBV‐C: A novel member of the flaviviridae associated with human non‐A‐E hepatitis". Journal of Medical Virology. 48: 60–67. doi:10.1002/(SICI)1096-9071(199601)48:1<60::AID-JMV10>3.0.CO;2-A. PMID 8825712.
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hepatitis X | None | 28,447 | wikipedia | https://en.wikipedia.org/wiki/Hepatitis_X | 2021-01-18T18:33:42 | {"wikidata": ["Q5731733"]} |
For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see 611162.
Population Genetics
Abel et al. (1992), using methods similar to those they used for studying the genetic basis of resistance to leprosy (246300) and schistosomiasis (181460), applied complex segregation analysis to falciparum malaria. The phenotype studied was parasite density (PD), which was based on the parasite/leukocyte ratio by counting 500 leukocytes on a Giemsa-stained thick smear. A logarithmic transformation, based on log(PD + 1), was applied to PD values to allow for zero counts. In studies of 42 Cameroonian families, Abel et al. (1992) concluded that there is a recessive major gene controlling the degree of infection in malaria. They estimated that the deleterious allele has a frequency of 0.44-0.48, indicating that about 21% of the population is predisposed to high levels of infection.
Mapping
Rihet et al. (1998) provided evidence for linkage of the level of blood infection with Plasmodium falciparum and the chromosome region 5q31-q33, which contains numerous candidate genes encoding immunologic molecules. They performed a sib-pair linkage analysis on 153 sibs from 34 families. The results, obtained by means of a 2-point Haseman-Elston method and a nonparametric approach, showed linkage of parasitemia to D5S393 (P = 0.002) and D5S658 (P = 0.0004). Multipoint analyses confirmed linkage, with a peak close to D5S658. The heritability of the locus was 0.48, according to the 2-point results, and 0.43, according to the multipoint results; this indicated that its variation accounted for approximately 45% of the variance of blood infection levels and that the locus plays a central role in the control of parasitemia. Garcia et al. (1998) and Flori et al. (2003) also found association between P. falciparum blood infection levels and 5q31-q33.
Hernandez-Valladares et al. (2004) used an F(11) advance intercross line in a population of mice infected with Plasmodium chabaudi to identify mouse quantitative trait loci (QTLs) for control of parasitemia on mouse chromosomes 11 and 18, which carry regions homologous to human 5q31-q33. They identified a novel QTL for parasitemia control on mouse chromosome 11, linked to marker D11Mit242, and involved in the clearance stages of the parasites from the bloodstream.
Misc \- Malarial infection intensity Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL | c1855456 | 28,448 | omim | https://www.omim.org/entry/248310 | 2019-09-22T16:25:43 | {"omim": ["248310"], "synonyms": ["Alternative titles", "PFBI", "PLASMODIUM FALCIPARUM PARASITEMIA"]} |
Zackai et al. (1972) described brothers, from a consanguineous marriage, who had microcephaly, mild mental retardation, short stature, and skeletal anomalies. The facies were similar to those in Seckel syndrome. One brother had fusion C6-7 with instability at C2-3 producing spinal cord compression. The other brother had fusion at C2-3 and C7-T1.
HEENT \- Microcephaly Growth \- Short stature Neuro \- Mental retardation \- Spinal cord compression Inheritance \- Autosomal recessive Skel \- Skeletal anomalies \- Spinal fusion \- Spinal instability ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES | c0796066 | 28,449 | omim | https://www.omim.org/entry/251250 | 2019-09-22T16:25:11 | {"mesh": ["C537325"], "omim": ["251250"], "orphanet": ["2522"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (October 2012)
Cigar cells in elliptocytosis
Blood smear showing elliptocytes
SpecialtyHematology
Cigar cells (also referred to as pencil cells) are red blood cells that are cigar- or pencil-shaped on peripheral blood smear. Cigar cells are commonly associated with hereditary elliptocytosis. However, they may also be seen in iron deficiency anemia, sepsis, malaria and other pathological states that decrease red blood cell turnover and or production.[1] In the case of iron deficiency anemia, microcytosis and hypochromia would also be expected.
Blood films, Giemsa stained
## References[edit]
1. ^ Clinical Hematology and Oncology. Bruce Furie, Peter A. Cassileth, Michael B. Atkins, Robert J. Mayer. Churchill Livingstone Publishing, ISBN 0-443-06556-X, pg. 276-78
## External links[edit]
Classification
D
* ICD-10: D58.1
* ICD-9-CM: 282.1
* MeSH: D004612
* DiseasesDB: 4172
External resources
* eMedicine: ped/987 med/648
* v
* t
* e
Myeloid blood cells and plasma
Hematopoiesis
Myelopoiesis
(CFU-GEMM)
CFU-GM
* Granulopoiesis
* Myeloblast
* Promyelocyte
* Myelocyte
* Metamyelocyte
* Band cell
* Monocytopoiesis
* Monoblast
* Promonocyte
MEP
* Thrombopoiesis
* Megakaryoblast
* Promegakaryocyte
* Erythropoiesis
* Proerythroblast
* Normoblast
* Reticulocyte
General
* Extramedullary hematopoiesis
Myeloid tissue
Granulocytes
* Myeloblast
* Band cell
* Neutrophil
* Basophil
* CFU-Baso
* Eosinophil
* CFU-Eos
* Mast cell
* CFU-Mast
Monocytes
Macrophages
* Histiocytes
* Kupffer cells
* Alveolar macrophage
* Microglia
* Osteoclasts
* Epithelioid cells
* giant cells
* Langhans giant cells
* Foreign-body giant cell
* Touton giant cells
Other
* Antigen-presenting cells
* Dendritic cells
* Langerhans cell
* CFU-DL
* Monoblast
* MPS
Platelets
* CFU-Meg
* Megakaryoblast
* Promegakaryocyte
* Megakaryocyte
Red blood cells
* Reticulocyte
* Nucleated red blood cell
* CFU-E
Immune response
* Leukocyte extravasation
* Phagocytosis
* Intrinsic immunity
Other
* Precursor cells
* CFU-GM
* Megakaryocyte–erythroid progenitor cell
* CFU-GEMM
* Myelomonocyte
Other
* Phagocyte
* Plasma
* Hematopoietic system
* Hematopoietic stem cell
This article related to pathology is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cigar cell | None | 28,450 | wikipedia | https://en.wikipedia.org/wiki/Cigar_cell | 2021-01-18T18:50:32 | {"icd-9": ["282.1"], "icd-10": ["D58.1"], "wikidata": ["Q5119810"]} |
A number sign (#) is used with this entry because of evidence that maleylacetoacetate isomerase deficiency (MAAID) is caused by compound heterozygous or homozygous mutation of the GSTZ1 gene (603758) on chromosome 14q24.
Description
Deficiency of maleylacetoacetate isomerase (MAAID) is characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is differentiated from hepatorenal tyrosinemia (TYRSN1; 276700), which is also identified by hypersuccinylacetonemia on newborn screening but is a severe disorder with hepatic failure, renal tubulopathy, rickets, and porphyria-like neurologic crises. MAAID and TYRSN1 are caused by mutations in genes encoding the penultimate and ultimate enzymes, respectively, in the phenylalanine and tyrosine degradation pathway (summary by Yang et al., 2017).
Clinical Features
Yang et al. (2017) reported 3 boys and 3 girls with MAAID, identified by newborn screening with mildly elevated succinylacetone (SA) by mass spectrometry on dried blood spot. Initial plasma SA level ranged from 233-1282 nmol/L (median 358 nmol/L) with an assay reference range of less than 24 nmol/L. This compares with hepatorenal tyrosinemia (TYRSN1) patients whose initial plasma SA levels ranges from 16,944 to 74,377 nmol/L (median 39,454). In urine, the SA level in benign hypersuccinylacetonemia subjects ranged from 73-4,103 micromol/mol creatinine (median 522) versus less than 34 micromol/mol creatine in controls. In TYRSN1 HT1 patients the urine SA ranged from 59,921-1,195,273 micromol/L (median 290,391). There was no overlap in laboratory values between the TYRSN1 group and the MAAID group. All individuals with benign hypersuccinylacetonemia had normal prothrombin (176930) time and international normalized ratio (PT/INR). Initial serum alpha-fetoprotein (AFP; 104150) was normal and remained within age-appropriate reference range for all 6 subjects for up to 13 years of follow-up. Plasma amino acids showed no elevation of tyrosine. There was no liver or kidney dysfunction or disease detected by imaging.
Molecular Genetics
Yang et al. (2017) identified 6 individuals with MAAID. Four were homozygous for an ala150-to-val mutation (A150V; 603758.0001), 1 was compound heterozygous for a nonsense (R87X; 603758.0002) and an intronic (c.68-12G-A, 603758.0003) mutation, and in 1 patient, only 1 mutation was detected (V99M; 603758.0004).
INHERITANCE \- Autosomal recessive ABDOMEN Liver \- Normal liver function HEMATOLOGY \- Normal coagulation LABORATORY ABNORMALITIES \- Mildly elevated succinylacetone in blood and urine seen on newborn screening \- Hypersuccinylacetonemia, benign MISCELLANEOUS \- Benign disorder MOLECULAR BASIS \- Caused by mutation in the glutathione S-transferase, zeta-1 gene (GSTZ1, 603758.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MALEYLACETOACETATE ISOMERASE DEFICIENCY | c1291607 | 28,451 | omim | https://www.omim.org/entry/617596 | 2019-09-22T15:45:25 | {"omim": ["617596"], "synonyms": ["Alternative titles", "MAAI DEFICIENCY", "HYPERSUCCINYLACETONEMIA, MILD", "BENIGN HYPERSUCCINYLACETONEMIA"]} |
Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain. It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric disorders, eye abnormalities, or inflammatory conditions. While most isolated cases of unknown cause are sporadic, autosomal recessive and autosomal dominant inheritance with varying degrees of severity have been described. In cases associated with underlying conditions, the cause depends on the underlying condition. Management may include keeping areas within the folds clean, and/or surgery if requested for psychological or cosmetic reasons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cutis verticis gyrata | c0263417 | 28,452 | gard | https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata | 2021-01-18T18:01:00 | {"umls": ["C0263417"], "orphanet": ["671"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Raine syndrome is caused by homozygous or compound heterozygous mutation in the FAM20C gene (611061) on chromosome 7p22.
Description
Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009).
Clinical Features
Kan and Kozlowski (1992) described the postmortem findings in an infant with generalized osteosclerosis and craniofacial dysplasia representing a lethal syndrome identical to that previously reported in single cases by Raine et al. (1989) and Kingston et al. (1991). The female fetus described by Raine et al. (1989) had the combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis. The facies in the 2 earlier cases and that reported by Kan and Kozlowski (1992) was 'fishlike.' The choanal passages were atretic in the patient of Kingston et al. (1991) and severely stenotic in the patient of Kan and Kozlowski (1992). The patients of Raine et al. (1989) and of Kan and Kozlowski (1992) had hypoplastic lungs. Multiple fracture-like rib lesions were seen on x-ray in the cases of Kingston et al. (1991) and Kan and Kozlowski (1992) but were not confirmed on histologic examination. The case of Kingston et al. (1991) had consanguineous parents.
FitzPatrick et al. (1998) described a lethal multiple malformation syndrome they called desmosterolosis (602398) because of a generalized accumulation of desmosterol. Their patient had many features of Raine syndrome, including macrocephaly, hypoplastic nasal bridge, thick alveolar ridges, and gingival nodules. However, FitzPatrick et al. (1998) also studied postmortem tissues from the case of Raine syndrome reported by Kan and Kozlowski (1992) and found no accumulation of desmosterol.
Al Mane et al. (1996) demonstrated that intracranial calcification is a component of Raine syndrome. The patient reported by Al Mane et al. (1996) was the second of 3 affected sibs reported by Rejjal (1998). The parents were first cousins and had 2 other children who were normal. The first affected child, a female, lived only a few days and was described as having microcephaly, bulging eyes, choanal atresia, and generalized osteosclerosis. Ultrasound and CT studies of the brain showed prominent calcifications, and a brief report of the case was published by Patel et al. (1992) as an example of osteopetrosis. The second affected child, a boy, was reported by Al Mane et al. (1996). Respiratory distress due to choanal atresia was not relieved by conventional surgical treatment, and tracheostomy was performed. The child died at 8 weeks of age. Radiographic studies showed diffuse osteosclerosis and widespread periosteal thickening of mandible, clavicles, scapulae, ribs, and long bones. Widespread focal cerebral calcifications were demonstrated in the periventricular white matter and basal ganglia with some meningeal calcifications as well, and these were thought to correspond to the histologic calcifications reported in the brain by Kan and Kozlowski (1992). The third affected child from the fifth pregnancy was recognized to have the same syndrome by prenatal ultrasound examination. At birth the findings were virtually identical to those in the other sibs. Autosomal recessive inheritance seems very likely as the cause of this distinctive syndrome.
Shalev et al. (1999) described a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. The patient closely resembled 6 previously reported infants that had been categorized as having Raine syndrome. Autosomal recessive inheritance was postulated based on parental consanguinity in several of the previous cases and in their patient.
Acosta et al. (2000) reported a preterm male infant, the first child of a consanguineous union, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanels, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set, and rounded ears, short neck, and arthrogryposis. Postmortem findings included hypoplastic lungs. Radiologic examination showed mild and localized increase of bone density in the cranial vault and skull base and facial bones and undermodeling in the long bones. Acosta et al. (2000) considered the findings characteristic of Raine dysplasia but with mild bone involvement, with only a localized bone sclerosis and absence of prenatal fractures. The consanguinity of the parents reinforced the hypothesis of autosomal recessive inheritance in this disorder.
Hulskamp et al. (2003) reported a consanguineous Turkish couple with 3 affected children in 7 pregnancies, including a fetus of 24 weeks' gestation with full clinical and autopsy findings consistent with Raine syndrome. In addition to the generalized osteosclerosis and appositional new bone formation seen in Raine syndrome, these patients had previously unreported meso- and severe telebrachyphalangy and urogenital anomalies.
Al-Gazali et al. (2003) reported an infant from an Arab family who presented at birth with severe craniofacial anomalies including a wide anterior fontanel, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface, bilateral choanal atresia, and a large protruding tongue. All the limbs were short and the thorax was small. Radiologically, there was increased bone density in some bones, periosteal new bone formation, and marked bowing of the femurs, tibias, and ulnas. Al-Gazali et al. (2003) suggested that osteosclerosis in Raine syndrome is not necessarily severe and generalized, and that bowing of the long bones is another variable radiologic feature of the syndrome.
Chitayat et al. (2007) described prenatal ultrasound, autopsy, and neuropathologic findings in a stillborn infant with Raine syndrome, the offspring of nonconsanguineous parents. A 19-week ultrasound showed no striking abnormalities, and only a retrospective review showed hypertelorism and flat profile. Thus, most of the abnormalities, including intracerebral calcifications, seem to present late in pregnancy.
### Survival Beyond Infancy
Simpson et al. (2009) reported 2 unrelated boys with Raine syndrome who survived infancy and were aged 8 and 11 years. At birth, both had features typical of Raine syndrome, with craniofacial dysmorphism including brachycephaly, downslanted eyes, hypoplastic nose, and small downturned mouth. Proptosis was present at birth in one of the boys, but in the other it only became apparent at 9 months of age; the latter child also had a scaphocephalic, saddle-shaped head with a widely split metopic suture and very large anterior fontanel. Skeletal surveys revealed sclerotic bone disease in both patients. Both had hydrocephalus requiring placement of a ventriculoperitoneal shunt, following which their early development, which had been impaired, was significantly improved. The 8-year-old boy underwent examination at 6 years of age, at which time tracheostomy due to poor central respiratory control and obstructive sleep apnea was considered. Craniofacial examination revealed turribrachycephaly, plagiocephaly, downslanting palpebral fissures, proptosis, depressed nasal bridge, small nose, protruding tongue, thick alveolar margins, high palate, abnormal teeth, and low-set ears. Radiography at 7 years of age revealed prominent metaphyseal sclerosis of the long bones and diffuse abnormalities of the skull, with thickening and coarse trabeculation and prominent mastoid bulges. At 11 years of age, the other boy had turribrachycephaly, hypertelorism, arched eyebrows, an inferiorly placed right eye, and low-set and protuberant ears with hearing aids in place for mixed hearing loss. Other features included a flat nasal bridge with rounded and bulbous nasal tip and prominent alae nasi, sunken midface, wide mouth with large tongue, and relative prognathism, and he was secondarily edentulous. He also had pectus excavatum, bulbous fingertips, thick fingers, and large halluces. He had visual impairment and dysphagia, and also displayed self-stimulating behavior. Both boys had short stature, with heights at or below the 5th centile; the 8-year-old's head circumference was in the 10th to 25th centile, whereas that of the 11-year-old was less than the 5th centile (50th centile for a 10-month-old infant). Both had severe developmental delay.
Fradin et al. (2011) reported 2 sisters, born of first-cousin parents of Algerian origin, who had an attenuated phenotype of Raine syndrome with normal psychomotor development at ages 4 years and 1 year, respectively. The older sister attended regular school and had normal speech and pictural drawing skills. Her height, weight, and occipitofrontal circumference (OFC) were within normal ranges, and she had no sensorial anomalies or history of respiratory distress. She displayed attenuation of the dysmorphic features, with a high palate and small teeth with enamel dysplasia. The younger sister had short stature but weight and OFC were in the medium range, and she displayed moderate craniofacial dysmorphism. Both sisters had stenosis of the pyriform aperture without choanal atresia that was surgically repaired, and both had intracranial as well as renal calcifications. X-rays showed static or decreasing osteosclerosis compared to earlier radiographs.
Inheritance
Raine syndrome is inherited as an autosomal recessive disorder, as indicated by its occurrence in offspring of consanguineous unions and its occurrence in sibs (Mahafza et al., 2001; Hulskamp et al., 2003).
Pathogenesis
Tagliabracci et al. (2012) determined that FAM20C phosphorylates the caseins and several secreted proteins implicated in biomineralization, including the small integrin-binding ligand N-linked glycoproteins (SIBLINGs). The authors generated FAM20C missense mutants associated with lethal and nonlethal forms of Raine syndrome. The FLAG-tagged mutants were overexpressed with V5-tagged OPN (166490), a SIBLING, in U2OS cells. FAM20C secretion and OPN phosphorylation were monitored by means of protein immunoblotting. The FAM20C mutants phosphorylated OPN less efficiently than the wildtype. Most mutations prevented FAM20C secretion, despite the fact that many localized within the secretory pathway. The nonlethal P328S and D451N mutants phosphorylated OPN, albeit not as efficiently as the wildtype protein. Thus, Tagliabracci et al. (2012) concluded that mutations in FAM20C resulting in Raine syndrome appear to affect FAM20C kinase activity and secretion. Abnormal phosphorylation of the SIBLINGs accounts for the biomineralization phenotype of Raine syndrome.
Molecular Genetics
Simpson et al. (2007) identified an unusual chromosome 7 rearrangement and microdeletion in a patient with Raine syndrome and subsequently identified homozygous or compound heterozygous mutations in the FAM20C gene (611061.0001-611061.0008), located within the deleted region, in 6 patients with the disorder. Three of these patients had been described by Kingston et al. (1991), Hulskamp et al. (2003), and Al-Gazali et al. (2003).
In 2 unrelated boys with Raine syndrome who survived infancy and were 8 and 11 years of age, Simpson et al. (2009) identified homozygosity and compound heterozygosity, respectively, for missense mutations in the FAM20C gene (611061.0009-611061.0011). Simpson et al. (2009) noted that these mutations were not shared with any of the previously reported mutation-positive patients who died in infancy, suggesting that these mutations might confer a milder phenotype.
In 2 sisters, born of first-cousin parents of Algerian origin, who had an attenuated phenotype of Raine syndrome with normal psychomotor development at ages 4 years and 1 year, respectively, Fradin et al. (2011) identified homozygosity for a missense mutation in the FAM20C gene (611061.0012). The authors stated that this family expanded the phenotype of Raine syndrome to include milder nonlethal manifestations.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly \- Brachycephaly \- Turribrachycephaly \- Plagiocephaly (in some patients) \- Wide fontanelles Face \- Craniofacial dysplasia \- Midface hypoplasia \- 'Fishlike' facies \- Choanal atresia or choanal stenosis \- Micrognathia \- Prognathism (in some patients) Ears \- Low-set ears \- Dysplastic ears (in some patients) \- Posteriorly rotated ears (in some patients) \- Protruding ears (in some patients) \- Hearing loss, mixed (in some patients) Eyes \- Exophthalmos \- Downslanting palpebral fissures \- Hypertelorism (in some patients) \- Arched eyebrows (in some patients) Nose \- Hypoplastic nose \- Depressed nasal bridge Mouth \- Gingival hyperplasia \- Cleft palate \- High palate \- Small mouth \- Wide mouth (in some patients) \- Large protruding tongue Teeth \- Abnormal teeth (in some patients) \- Natal teeth (in some patients) \- Small teeth (in some patients) \- Enamel dysplasia (in some patients) Neck \- Short neck RESPIRATORY Lung \- Pulmonary hypoplasia CHEST \- Small thorax Ribs Sternum Clavicles & Scapulae \- Pectus excavatum (in some patients) \- Multiple fracture-like rib lesions GENITOURINARY External Genitalia (Male) \- Microscrotum (in some patients) Kidneys \- Decreased tubular resorption of phosphate (in some patients) \- Hydronephrosis (in some patients) \- Double renal pelvis (in some patients) \- Renal cortex calcification (in some patients) Ureters \- Hydroureter, bilateral (in some patients) \- Stenotic ostia of ureters (in some patients) SKELETAL \- Osteosclerosis, generalized \- Arthrogryposis (rare) Skull \- Osteosclerosis Spine \- Absence of ossification of vertebral bodies C3 to C5 (rare) \- Vertebral segmentation defects (rare) Pelvis \- Absence of ossification of sacrum (rare) Limbs \- Short limbs (in some patients) \- Bowing of long bones (in some patients) Hands \- Bulbous fingertips (in some patients) \- Thick fingers (in some patients) \- Brachydactyly (in some patients) Feet \- Large halluces (in some patients) NEUROLOGIC Central Nervous System \- Cerebral calcifications \- Hydrocephalus (in some patients) \- Developmental delay (in some patients who survive infancy) Behavioral Psychiatric Manifestations \- Self-stimulating behavior (in some patients) METABOLIC FEATURES \- Low circulating phosphate \- Elevated alkaline phosphatase MISCELLANEOUS \- Some patients survive infancy MOLECULAR BASIS \- Caused by mutation in the family with sequence similarity 20, member C gene (FAM20C, 611061.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RAINE SYNDROME | c1850106 | 28,453 | omim | https://www.omim.org/entry/259775 | 2019-09-22T16:23:50 | {"mesh": ["C535282"], "omim": ["259775"], "orphanet": ["1832"], "synonyms": ["Alternative titles", "OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL"]} |
Money disorders[dubious – discuss]are the maladaptive patterns of financial beliefs and behaviors that lead to clinically significant distress, impairment in social or occupational functioning, due to financial strain or an inability to appropriately enjoy one's financial resources.[1] With the exception of pathological gambling and compulsive buying, psychology and the mental health fields have largely neglected dysfunctional money disorders[disputed – discuss].[2] The term is contentious among mental health professionals and as of 2017, money disorder is not a clinical diagnosis in either the DSM or ICD medical classifications of diseases and medical disorders.
Types of behaviors, or “scripts”, related to money disorders include money avoidance, money worship, money status and money vigilance.[3] Some mental health practitioners say that those afflicted with money disorders or who have problematic money beliefs can seek financial therapy. With financial therapy, financial planners and relationship therapists work together to provide comprehensive treatment to clients experiencing financial distress.[4]
## Contents
* 1 Symptoms
* 2 Treatment
* 3 Cause
* 4 Further Research
* 5 References
## Symptoms[edit]
Signs and symptoms that can show and lead to money disorders are engaging in addictive gambling, Financial infidelity, compulsive expenditure and prince charming syndrome. People suffering from money disorders often don't realize that they are in that state or that they need help. And for those who know their state, they typically find it hard to change their behaviors. Some try to shift their behaviors but are unable to make the changes long-lasting. The end result is that most of these people feel ashamed of their behaviors and hide them from others, hence making it difficult for them to get help as needed.[citation needed]
Prince Charming Syndrome
People who suffer prince charming syndrome have the need to wait on an outside source of financial income to come to save your financial debt such as the lottery, government assistance, or family inheritance. People who depend on others or seek for others to depend on their income to survive, more than likely suffering from prince charming syndrome.[citation needed]
Addictive gambling
Is an urge to gamble continuously despite harmful negative consequences or a desire to stop. Problem gambling is often defined by whether harm is experienced by the gambler or others, rather than by the gambler's behavior. Severe problem gambling may be diagnosed as clinical pathological gambling if the gambler meets certain criteria. Pathological gambling is a common disorder that is associated with both social and family costs. If engaging in addictive gambling continues for more than a 12-month period according to the DSM-V. Factors that lead to this symptom Needs to gamble with increasing amounts of money in order to achieve the desired excitement, Is restless or irritable when attempting to cut down or stop gambling, Has made repeated unsuccessful efforts to control, cut back, or stop gambling, Is often preoccupied with gambling (e.g., having persistent thoughts of reliving past gambling experiences, handicapping or planning the next venture, thinking of ways to get money with which to gamble),Often gambles when feeling distressed (e.g., helpless, guilty, anxious, depressed), After losing money gambling, often returns another day to get even ("chasing" one's losses)[citation needed]
Financial infidelity
The tendency to be omissive or keep secrets about financial spendings by possessing credit cards, creating secret accounts or assets, borrowing money and accruing debt without their spouse, or significant other being aware of their spendings. Financial infidelity may be on the rise, with a 2005 study showing that 30% of respondents had lied about financial information and 25% had withheld information,[5] whereas a 2008 study showed that half the respondents had committed some form of financial infidelity.[6]
Compulsive Spending
This symptom usually occurs when an individual feels out of control. It can bring problems to the individual's life, who is advised to seek help before spending a significant portion of their income on discretionary purchases. It can take the form of the accumulation of a large amount of consumer debt; continuous spending, despite resolutions to stop; hiding of purchases from loved ones; being more excited about making the purchases than owning the items. The person might feel a sense of shame after purchasing something. The cause of this symptom usually deals with coping with stress, pain, and trauma.[citation needed]
## Treatment[edit]
Cognitive-behavioral therapy
This treatment can help the individual develop self-esteem independency from their possessions. Treatment involving CBT has been shown to be effective in reducing compulsive symptoms. Seeking a psychologist to treat these symptoms have been related to a subcategory of OCD, which can help with related symptoms when involving treatment. Some compulsive spenders have sought out treatment through 12-step programs such as Debtors Anonymous. [7]
## Cause[edit]
Money Avoidance
When money avoidance includes underspending and recessive risk aversion it includes two subcategories which are financial denial and financial rejection. When facing financial denial the individual would simply refuse their money problems by not facing reality, for example, avoiding to look at bank statements or avoiding to pay an overdue credit card bill. Financial rejection is when the individual is feeling guilty whenever money is being accumulated and causes very low self esteem.[citation needed]
Money worshipping
Money worship falls under the individual being obsessed with obtaining more money and simply believe that the only way to progress in life would be to obtain more money at the same time believing no matter the amount of money they accumulate won't meet their desires and wishes.[citation needed]
## Further Research[edit]
Although this disorder isn't clinically recognized by the DSM, research is being conducted with time and this disorder may show in the DSM if enough research supports this disorder to be recognized.[citation needed]
## References[edit]
1. ^ Klontz, Brad; Ted Klontz. "Providing Financial Therapy for Clients with Money Disorders". Counselor, The Magazine for Addiction Professionals. Health Communications. Retrieved 31 July 2011.
2. ^ Lowrance, Joe. "Dismantling the Money Taboo: Mental Health Professionals' Call to Action" (PDF). FinancialPsychologyCeus.com. Retrieved 31 July 2011.
3. ^ Sullivan, Paul (6 May 2011). "Net Worth, Self-Worth and How We Look at Money". New York Times. Retrieved 31 July 2011.
4. ^ Marshall, Jane. "Financial planning team helps families cope in hard times". K-State Institute of Personal Financial Planning. Retrieved 31 July 2011.
5. ^ Liz Pulliam Weston. "Financial Infidelity is Rampant". MSN Money. Archived from the original on 2011-07-14. Retrieved 2008-03-03.
6. ^ Eileen Ambrose (2008-02-12). "'Financial Infidelity' is Pretty Common". Baltimore Sun. Archived from the original on 2013-01-17. Retrieved 2008-03-03.
7. ^ Black, D. W. (2007). Compulsive buying disorder: A review of the evidence. CNS Spectrums,12(02), 124-132. doi:10.1017/s1092852900020630
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* v
* t
* e
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* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Money disorder | c0577410 | 28,454 | wikipedia | https://en.wikipedia.org/wiki/Money_disorder | 2021-01-18T18:49:25 | {"umls": ["C0577410"], "wikidata": ["Q6899222"]} |
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Close up of a unibrow.
A unibrow (or jacco brow or monobrow; called synophrys in medicine) is a single eyebrow created when the two eyebrows meet in the middle above the bridge of the nose.[1] The hair above the bridge of the nose is often of the same color and thickness as the eyebrows, giving the appearance that they converge to form one uninterrupted line of hair.
## Contents
* 1 History
* 2 Culture and beauty
* 2.1 Oman
* 2.2 Tajikistan
* 2.3 Elsewhere
* 3 Medicine
* 3.1 Genetics
* 3.2 Medical conditions
* 4 See also
* 5 References
* 6 External links
## History[edit]
The word monobrow first appeared in print in 1968,[2] and the adjectival form monobrowed followed in 1973, in Martin Amis' novel The Rachel Papers.[3] The first known use of the word unibrow was in 1988.[4]
## Culture and beauty[edit]
### Oman[edit]
A unibrow is considered as a sign of beauty in Oman. Its popularity causes women to draw a black line joining the brows as a part of their routine makeup to fake a unibrow. A study found the prevalence of synophrys to be at 11.87% in the Omani population.[5]
### Tajikistan[edit]
In Tajikistan,[6] a unibrow is viewed as an attractive quality in both men and women.[citation needed] For women, it is associated with virginity and purity and, in men, virility.[citation needed] If there is no unibrow present, or if it is weak, it is commonplace for women to use a kohl liner or a modern kajal pen to simulate a unibrow.[citation needed]
### Elsewhere[edit]
The unibrow has largely been seen as undesirable in the Americas and Europe, with the hairs often plucked, shaved, or waxed away.[7][8][9]
Frida Kahlo
The artist Frida Kahlo was famous for her unibrow, which she often depicted in self-portraits.[10][11] Model Sophia Hadjipanteli is also known for her unibrow.[12]
It is also the trademark of NBA player Anthony Davis,[13] football player Marouane Fellaini and YouTuber ElectroBOOM.
Bert from Sesame Street and Baby Gerald from The Simpsons are two fictional characters with a unibrow.
## Medicine[edit]
### Genetics[edit]
The unibrow is a genetic trait.[14] It is associated with the PAX3 gene.[7][15]
### Medical conditions[edit]
A unibrow is part of normal human variation, but can also stem from developmental disorders. A unibrow is a recognized feature of Cornelia De Lange syndrome, a genetic disorder whose main features include moderate to severe learning difficulties, limb abnormalities such as oligodactyly (fewer than normal fingers or toes) and phocomelia (malformed limbs), and facial abnormalities including a long philtrum (the slight depression/line between the nose and mouth).
Other medical conditions associated with a unibrow include:
* Waardenburg syndrome;
* Patau syndrome;
* Smith-Lemli-Opitz syndrome;
* Sanfilippo syndrome;
* 3p deletion syndrome;[16]
* Chromosome Deletion Dillan 4p Syndrome (Wolf–Hirschhorn syndrome);
* Gorlin syndrome (Basal Cell Nevus Syndrome);
* Cornelia de Lange Syndrome
* Frontometaphyseal dysplasia;
* ATRX syndrome;
* Chromosome 9q34 Microdeletion Syndrome or Kleefstra syndrome.
## See also[edit]
* Glabella
## References[edit]
1. ^ "confluent eyebrow". TheFreeDictionary.com. Retrieved 2016-02-02.
2. ^ "mono-brow, n." www.oed.com. Retrieved 2020-08-14.
3. ^ "mono-browed, adj". www.oed.com. Retrieved 2020-08-14.
4. ^ "Definition of UNIBROW". www.merriam-webster.com. Retrieved 2016-02-02.
5. ^ Synophrys: Epidemiological Study.P.Kumar. Int J Trichology.2017;9(3):105-107.doi: 10.4103/ijt.ijt_14_17 PMC 5596643.
6. ^ Elder, Miriam (November 27, 2010). "Where the unibrow reigns". Global Post. Retrieved November 13, 2011.
7. ^ a b "Why Does Food Taste Bad After You Brush Your Teeth?". 2018-08-24. Retrieved 2018-08-27.
8. ^ Adame, Amanda (2017-05-25). "People Are Embracing The Unibrow – Here's Why It's A Good Thing". Konbini United States. Retrieved 2018-08-27.
9. ^ Usborne, Simon (2017-05-03). "Why it's finally cool to have a monobrow". the Guardian. Retrieved 2018-08-27.
10. ^ "An Open Letter to the AGO About Frida Kahlo's Unibrow – Shameless Magazine". shamelessmag.com.
11. ^ "Why Frida Kahlo's unibrow is important". NET-A-PORTER.
12. ^ "Meet the model 'owning' her unibrow". Stuff.
13. ^ "Anthony Davis Trademarked His Unibrow". Business Insider Australia.
14. ^ "Human Traits". faculty.southwest.tn.edu. Retrieved 2016-02-02.
15. ^ Adhikari, Kaustubh. "How we discovered the genetic origin of the 'monobrow' and other hair traits". The Conversation. Retrieved 2018-08-27.
16. ^ "Chromosome 3p- syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-08-27.
## External links[edit]
* Media related to Unibrows at Wikimedia Commons
* v
* t
* e
The orbit of the eye
Bones
* Frontal bone
* Zygomatic bone
* Maxillary bone
* Sphenoid bone
* Ethmoid bone
* Palatine bone
* Lacrimal bone
Muscles
* Superior rectus muscle
* Inferior rectus muscle
* Lateral rectus muscle
* Medial rectus muscle
* Superior oblique muscle
* Trochlea of superior oblique
* Inferior oblique muscle
Eyelid
* Levator palpebrae superioris muscle
* Tarsus
* Medial palpebral ligament
* Epicanthic fold
* Meibomian gland
* Ciliary glands
* Eyelash
* Palpebral fissure
* Canthus
* Gland of Zeis
Lacrimal apparatus
* Lacrimal canaliculi
* Lacrimal caruncle
* Lacrimal gland
* Accessory lacrimal glands
* Krause's glands
* Ciaccio's glands
* Lacrimal lake
* Lacrimal papilla
* Lacrimal punctum
* Lacrimal sac
* Nasolacrimal duct
Other
* Eyebrow
* Unibrow
* Conjunctiva
* Plica semilunaris
* Orbital septum
* Periorbita
* Suspensory ligament of eyeball
* Tenon's capsule
* v
* t
* e
Human hair
Classification
by type
* Lanugo
* Androgenic
* Terminal
* Vellus
by location
* Body
* Ear
* Nose
* Eyebrow
* unibrow
* Eyelash
* Underarm
* Chest
* Abdominal
* Pubic
* Leg
Head hairstyles
(list)
* Afro
* Afro puffs
* Asymmetric cut
* Bald
* Bangs
* Beehive
* Big hair
* Blowout
* Bob cut
* Bouffant
* Bowl cut
* Braid
* Brush cut
* Bun (odango)
* Bunches
* Burr
* Businessman cut
* Butch cut
* Buzz cut
* Caesar cut
* Chignon
* Chonmage
* Chupryna
* Comb over
* Conk
* Cornrows
* Crew cut
* Crochet braids
* Croydon facelift
* Curly hair
* Curtained hair
* Devilock
* Dido flip
* Digital perm
* Dreadlocks
* Duck's ass
* Eton crop
* Extensions
* Feathered hair
* Finger wave
* Flattop
* Fontange
* French braid
* French twist
* Fringe
* Frosted tips
* Hair crimping
* Harvard clip
* High and tight
* Hime cut
* Historical Christian hairstyles
* Hi-top fade
* Induction cut
* Ivy League
* Jewfro
* Jheri curl
* Kiss curl
* Layered hair
* Liberty spikes
* Long hair
* Lob cut
* Marcelling
* Mod cut
* Mohawk
* Mullet
* 1950s
* 1980s
* Pageboy
* Part
* Payot
* Pigtail
* Pixie cut
* Polish halfshaven head
* Pompadour
* Ponytail
* Punch perm
* Princeton
* Professional cut
* Queue
* Quiff
* Rattail
* Razor cut
* Regular haircut
* Ringlets
* Shag
* Shape-Up
* Shimada
* Short back and sides
* Short brush cut
* Short hair
* Spiky hair
* Straight hair
* Standard haircut
* Surfer hair
* Taper cut
* Temple Fade
* Tonsure
* Updo
* Undercut
* Waves
* Widow's peak
* Wings
Facial hair
(list)
* Beard
* Chinstrap
* Goatee
* Shenandoah
* Soul patch
* Van Dyke
* Moustache
* Fu Manchu
* handlebar
* horseshoe
* pencil
* toothbrush
* walrus
* Designer stubble
* Sideburns
Hair loss
cosmetic
* Removal
* waxing
* threading
* plucking
* chemical
* electric
* laser
* IPL
* Shaving
* head
* leg
* cream
* brush
* soap
* Razor
* electric
* safety
* straight
other
* Alopecia
* areata
* totalis
* universalis
* Frictional alopecia
* Male-pattern hair loss
* Hypertrichosis
* Management
* Trichophilia
* Trichotillomania
* Pogonophobia
Haircare products
* Brush
* Clay
* Clipper
* Comb
* Conditioner
* Dryer
* Gel
* Hot comb
* Iron
* Mousse
* Pomade
* Relaxer
* Rollers
* Shampoo
* Spray
* Wax
Haircare techniques
* Backcombing
* Crimping
* Curly Girl Method
* Hair cutting
* Perm
* Shampoo and set
* Straightening
Related topics
* Afro-textured hair (kinky hair)
* Beard and haircut laws by country
* Bearded lady
* Barber (pole)
* Eponymous hairstyle
* Frizz
* Good hair
* Hairdresser
* Hair fetishism (pubic)
* Hair follicle
* Hair growth
* Hypertrichosis
* Trichotillomania
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Unibrow | c0431447 | 28,455 | wikipedia | https://en.wikipedia.org/wiki/Unibrow | 2021-01-18T18:50:09 | {"wikidata": ["Q1438099"]} |
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
## Epidemiology
So far, it has been described in only one family.
## Etiology
The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder.
## Genetic counseling
Transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | c2678482 | 28,456 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139450 | 2021-01-23T19:08:42 | {"gard": ["10300"], "mesh": ["C567512"], "omim": ["611863"], "umls": ["C2678482"], "icd-10": ["Q13.8"], "synonyms": ["Balikova-Vermeesch syndrome"]} |
Amoebic hepatic abscess
Gross pathology of liver containing amoebic abscess
SpecialtyInfectious disease
A amoebic liver abscess is a type of liver abscess caused by amebiasis.[1] It is the involvement of liver tissue by trophozoites of the organism Entamoeba histolytica and of its abscess due to necrosis.
## Contents
* 1 Presentation
* 2 Diagnosis
* 3 Management
* 3.1 Amoebicidal drugs
* 3.1.1 Emetine
* 3.1.2 Dehydroemetine
* 3.1.3 Chloroquine
* 3.1.4 Ambilhar
* 3.1.5 Metronidazole
* 3.1.6 Tinidazole
* 4 Rodent models
* 5 References
* 6 External links
## Presentation[edit]
Presentation is defined by the following:[citation needed]
Magnetic resonance cholangiopancreatography (MRC) image showing a voluminous and heterogeneous collection in the left liver lobe (amoebic abscess)
Symptoms
* Pain right hypochondrium referred to right shoulder
* Pyrexia (100.4 F)
* Profuse sweating and rigors
* Loss of weight
* Earthy complexion
Signs
* Pallor
* Tenderness and rigidity in right hypochondrium
* Palpable liver
* Intercostal tenderness
* Basal lung signs
## Diagnosis[edit]
* Blood CP
* Haemoglobin estimation
* Stools examination (trophozoites and cysts)
* Radiography
* Aspiration exploratory
* Medical ultrasonography and CT scanning
* Sigmoidoscopy
* Liver function tests
* Serological tests
## Management[edit]
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* Metronidazole[2] 800 mg TDS for 5–10 days
* Aspiration
* Repeated imaging of liver
Treatment must also include a lumenal amoebicide to prevent reinvasion of tissues by amoebae still in the intestines (see Amoebiasis). After completion of treatment with tissue amebicides, administer luminal amebicides for eradication of the asymptomatic colonization state. Failure to use luminal agents can lead to relapse of infection in approximately 10% of patients.[3]
### Amoebicidal drugs[edit]
The treatment of invasive amoebiasis should be directed to all sites where E. histolytica may be present. Hence the ideal amoebicide should be able to act within the intestinal lumen, in the intestinal wall, and systemically, particularly in the liver. Systemic amoebicidal drugs include emetine, dehydroemetine, chloroquine diphosphate, metronidazole, and tinidazole.
#### Emetine[edit]
Ipecac or ipecacuanha consists of the dried rhizome and roots of Cephaelis ipecacuanha. The medical virtues of ipecac are almost entirely due to the action of its alkaloids-emetine and cephaline. Till today, emetine remains one of the best drugs for treating amoebic liver abscess. It has a direct action on the trophozoites. Its greater concentration and duration of action in the liver as compared to that in the intestinal wall explains its high efficacy in amoebic liver abscess and also its low parasitic cure rate for intestinal amoebiasis. The drug is detoxicated and eliminated slowly. It may, therefore, produce cumulative effects. In man, emetine poisoning is characterized by muscular tremors, weakness and pain in the extremities which tend to persist until drug administration is stopped. Gastro-intestinal symptoms include nausea, vomiting and bloody diarrhoea. The latter may be mistaken for a recurrence of amoebic dysentery. Many clinicians fear the occurrence of cardiac toxicity due to this drug and hence avoid using it. Serious cardiac toxicity, however, is rare. Both recovered with the treatment for heart failure and withdrawal of emetine. One patient who was given fifteen injections of emetine in a dose of 60 mgm per day, died. Overdosage of emetine produces focal necrosis of cardiac muscle resulting in cardiac failure and sudden death. Emetine, like digitalis may produce mild ST and T wave changes in the electrocardiogram which does not necessarily mean serious toxicity. In fact, they are encountered, though less commonly, after the use of chloroquine and metronidazole as well. Toxic effects on the myocardium have been described even in doses generally considered safe. These are rise in pulse rate, fall in systolic blood pressure and ST-T changes in the electrocardiogram. The other rare E.C.G. changes include deformity of QRS complexes, prolongation of PR interval, atrial premature beats, and atrial tachycardia. In adults, fatal cases have been reported with a total dose of 0.6 G. or less. The incidence of toxic heart damage greatly increases in patients with anaemia. In patients having myocardial disease or marked hypertension, emetine can be used for amoebic liver abscess, as the benefits from it may outweigh possible hazards. This situation is unlikely to arise these days, as equally good alternative drugs like metronidazole are available. Patients receiving emetine should be monitored for changes in pulse, blood pressure and electrocardiography. Absolute bed rest during and several days after emetine therapy has been recommended, although we[who?] have often seen patients in whom no untoward reactions have occurred in spite of neglecting the above precaution. Theoretically the use of emetine in children is not advised. However, in practice it has been used as discussed elsewhere. It should not be administered during pregnancy unless absolutely necessary. Although emetine is undeniably moderately toxic, the risk of using it would be worth accepting in such a serious illness were it not for the fact that less toxic drugs like chloroquine and metronidazole are now available. In practice, emetine still produces a more dramatic clinical response thanchloroquine or metronidazole. This point would score in favour of emetine in places where facilities for a proper diagnosis are not available and a therapeutic test remains as the only weapon with a practitioner. Emetine should always be given deep intramuscularly or deep subcutaneously but never intravenously. The total dose in amoebic liver abscess should not exceed 650 mg or 10 mg/kg. This should be given over a period of 10 days in a dose of 6G65 mg. daily. A relapse rate of 7% follows one such course. Therefore, the treatment could be repeated after a period of 2–6 weeks. Of late such a need does not arise, as drug combinations are commonly used. When parenteral emetine is combined with oral chloroquine or two courses of emetine are given, the relapse rate can be brought down to 1 percent.
#### Dehydroemetine[edit]
It is a synthetic compound developed by Osbond et al. and Brossi et al. in 1959. It is as effective as emetine in its amoebicidal properties. Given parenterally dehydroemetine is surprisingly painless. Oral tablets have been introduced. But for some reason, these tablets have not become popular. A high cure rate can be obtained with this drug. Compared to emetine, its concentration in the heart is less. Electrocardiographic changes are not seen so often. When present, they are more transient than with emetine. Dehydroemetine is excreted by the kidneys, heart and the other organs more rapidly than emetine. Therefore, a daily dose of 1.25 mg or 1.5 mg/kg body weight is necessary. The total daily dose should not exceed 90 mg. The course should not be repeated in less than 14 days.
#### Chloroquine[edit]
The introduction of cinchona into therapeutics was due to the discovery of its efficacy in malaria. In 1921, John[who?] used quinine hydrochloride, an alkaloid of cinchona in the treatment of amoebic liver abscess. Later when synthetic derivatives of quinine were introduced, chloroquine phosphate, a 4-aminoquinoline was found to be less toxic than the parent drug. The drug was first quoted in the treatment of this condition in very early reports by Conan (1948)15, Murgatroyd and Kent (1948). It is absorbed rapidly and completely from the gastrointestinal tract. It is found to be very effective in invasive amoebiasis although the drug is a weaker amoebicide when compared to emetine. It is only feebly amoebicidal in the intestinal lumen. The high concentration in the liver parenchyma and the lung allows the drug to act upon E. Histolytica in cases of amoebic liver abscess and pleuropulmonary amoebiasis. It is usually well tolerated, but in some individuals it may cause mild headache, itching, nausea, vomiting or blurred vision. Rarely incoordination, convulsions, peripheral neuritis and bleaching of hair can occur. Diminution of T waves has been noticed on routine electrocardiographic recordings. Retinopathy does not occur with the usual dosage for amoebic liver abscess. Psychic disturbances though rare may interfere with the safe operation of machines and vehicles. The drug may be toxic to children in large doses18 and causes deafness in the foetus. Each 0.5 G. tablet contains chloroquine diphosphate equivalent to 0.3 G. of the base. For the treatment of amoebic liver abscess, it is administered in doses of 0.6 G. base per day in 2 to 3 divided doses orally for 2 days followed by 0.15 G. base twice daily for 2 to 3 weeks. However, Plorde recommends that it be given as 0.6 G. base initially, 0.3 G. base six hours later and then 0.3 G. base twice daily for fourteen to twenty eight days.19 Chloroquine is also available in an injectable form. Since it is quite toxic by this route, it should not be used for more than 24–48 hours after which oral therapy should be continued. Rarely, when patients of amoebic liver abscess are vomiting, injection chloroquine can be used in a dose of 0.3–0.6 G. base in 24 hours not exceeding 0.9 G.). Chloroquine given alone is a safer drug than emetine in amoebic liver abscess, but unfortunately the relapse rate is almost 25%. Rarely repetition of the course may induce a dramatic response.
#### Ambilhar[edit]
Until 1964, all available amoebicides were selective in their sites of action. The development of newer nitro-imidazole derivatives led to Niridazole. It was given in a daily dose of 25–30 mgm. per kg to 50 patients for seven days. The cure rate was found to be 84% with serious side effects in one patient. An Indian study of 30 patients on this drug revealed that it acted as a contact amoebicide and also against the invasive forms.23 The therapeutic action of Ambilhar was found to be significantly better than that produced by a combination of dehydroemetine and chloroquine.
#### Metronidazole[edit]
This is another derivative of the parent drug and its results are better than niridazole. This amoebicide acts directly on the trophozoites of E. Histolytica. Studies showed that because of very high concentration in the liver extremely small amounts of the drug were effective in amoebic liver abscess, but with such low doses, eradication of amoebae in the bowel was uncertain. The drug is quickly absorbed, partly metabolized, and rapidly excreted without any cumulative effect. It is more active in the tissues than in the gut lumen. It follows that a higher dosage is needed in the cure of luminal than systemic infection. The side effects of metronidazole are infrequent. Gastro-intestinal symptoms and headache occur occasionally. Heavy coating of tongue, brownish urine, metallic taste, dry mouth, and nausea occur more often. Vertigo, incoordinate ataxia, and paraesthesias have been reported on rare occasions. Tsai et al. observed psychosis which usually disappeared within a day or two after metronidazole was withdrawn, but tremors and muscle spasm lasted for several days. It has an antabuse-like action and alcohol should be avoided during its use. A transitory leucopenia may occur. Cardiovascular symptoms are rare. Treatment should be discontinued promptly if ataxia or any other symptoms of C.N.S. involvement occur. Only a few years ago when metronidazole was introduced it was considered to be the last word in the therapy of amoebiasis. However, the recent evidence that this drug is carcinogenic and possibly mutagenic in animals is disturbing. Due to such reports the use of the drug remains controversial, especially as metronidazole is a very widely and commonly used antibiotic. The potential risk in human beings must be weighed against the severity of the disease. The oral dose of 400 mg. thrice daily for 5 days suffices for the treatment of amoebic liver abscess. Adams29 in his analysis of 2,074 cases of liver abscess preferred metronidazole to other amoebicidal agents. A single oral dose of 2.5 G. metronidazole combined with closed aspiration has also produced dramatic response and cure in patients with amoebic liver abscess. Recently the use of intravenous preparation of metronidazole has been reported. Studies by Lazarachick et a revealed presence of anaerobic bacteroides in as many as 26% cases of amoebic liver abscess with so called 'sterile' pus. Intravenous metronidazole is a drug of choice for anaerobic infections Therefore it may be of extra advantage, if used in amoebic liver abscess. Metronidazole should not be used as a single agent for the eradication of bowel infection.33 When used alone, a few cases are known to have developed amoebic liver abscess, months after apparently successful cure of dysentery. Cases refractory to metronidazole have been occasionally described.
#### Tinidazole[edit]
This nitroimidazole compound, like metronidazole, has shown a marked therapeutic response in amoebic liver abscess. Occasional side effects include nausea and dizziness. Tinidazole is not widely available though it is more effective than metronidazole. Zuberi and Ibrahim found tinidazole to be effective in 86.7% cases of intestinal amoebiasis and in 100% cases of amoebic liver abscess. Luminal amoebicides like halogenated oxyquinolines, e.g. diiodohydroxyquinoline in a dose of 0.6 G. thrice daily for 3 weeks, diloxanide furoate 0.5 G. three times a day for 10 days and sometimes tetracyclines 1–2 G./day for 5 days should be used concurrently with any of the above drugs as adjuncts to eliminate intestinal infection.
## Rodent models[edit]
Role of neutrophils in rodent amebic liver abscess [4]
Due to the difficulty of exploring host and amebic factors involved in the pathogenesis of amebic liver abscess in humans, most studies have been conducted with animal models (e.g., mice, gerbils, and hamsters). Histopathological findings revealed that the chronic phase of amebic liver abscess in humans corresponds to lytic or liquefactive necrosis, whereas in rodent models there is granulomatous inflammation. However, the use of animal models has provided important information on molecules and mechanisms of the host/parasite interaction in amebic liver abscess.[4]
## References[edit]
1. ^ Nespola, Benoît; Betz, Valérie; Brunet, Julie; Gagnard, Jean-Charles; Krummel, Yves; Hansmann, Yves; Hannedouche, Thierry; Christmann, Daniel; Pfaff, Alexander W.; Filisetti, Denis; Pesson, Bernard; Abou-Bacar, Ahmed; Candolfi, Ermanno (2015). "First case of amebic liver abscess 22 years after the first occurrence". Parasite. 22: 20. doi:10.1051/parasite/2015020. ISSN 1776-1042. PMC 4472968. PMID 26088504.
2. ^ Blessmann J, Binh HD, Hung DM, Tannich E, Burchard G (November 2003). "Treatment of amoebic liver abscess with metronidazole alone or in combination with ultrasound-guided needle aspiration: a comparative, prospective and randomized study". Trop. Med. Int. Health. 8 (11): 1030–4. doi:10.1046/j.1360-2276.2003.01130.x. PMID 14629771.
3. ^ Amebic Hepatic Abscesses~treatment at eMedicine
4. ^ a b Campos-Rodríguez, Rafael; Gutiérrez-Meza, Manuel; Jarillo-Luna, Rosa Adriana; Drago-Serrano, María Elisa; Abarca-Rojano, Edgar; Ventura-Juárez, Javier; Cárdenas-Jaramillo, Luz María; Pacheco-Yepez, Judith (2016). "A review of the proposed role of neutrophils in rodent amebic liver abscess models". Parasite. 23: 6. doi:10.1051/parasite/2016006. ISSN 1776-1042. PMC 4754534. PMID 26880421.
## External links[edit]
Classification
D
* ICD-10: A06.4
* ICD-9-CM: 006.3
* MeSH: D008101
External resources
* MedlinePlus: 000211
* eMedicine: article/183920
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
* v
* t
* e
Amoebozoal diseases
Lobosea
(free-living)
Centramoebida
* Acanthamoeba
* Acanthamoeba keratitis
* Cutaneous acanthamoebiasis
* Granulomatous amoebic encephalitis
* Acanthamoeba infection
* Balamuthia mandrillaris
* Balamuthia amoebic encephalitis
* Balamuthia infection
Flabellinia
* Sappinia diploidea/Sappinia pedata
* Sappinia amoebic encephalitis
Conosa/Archamoebae
* Entamoeba histolytica
* Amoebiasis
* Amoebic dysentery
* Amoebic liver abscess
* Cutaneous amoebiasis
* Amoebic brain abscess
* Amebiasis cutis
* Entamoeba gingivalis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Amoebic liver abscess | c0023886 | 28,457 | wikipedia | https://en.wikipedia.org/wiki/Amoebic_liver_abscess | 2021-01-18T19:03:55 | {"mesh": ["D008101"], "icd-9": ["006.3"], "icd-10": ["A06.4"], "wikidata": ["Q2820891"]} |
Villitis of unknown etiology
Other namesChronic villitis
Micrograph of villitis of unknown etiology. H&E stain.
SpecialtyPathology, gynecology
Villitis of unknown etiology (VUE), also known as chronic villitis, is a placental injury. VUE is an inflammatory condition involving the chorionic villi (placental villi). VUE is a recurrent condition and can be associated with intrauterine growth restriction (IUGR). IUGR involves the poor growth of the foetus, stillbirth, miscarriage, and premature delivery.[1][2] VUE recurs in about 1/3 of subsequent pregnancies.[3]
VUE is a common lesion characterised by inflammation in the placental chorionic villi. VUE is also characterised by the transfer of maternal lymphocytes across the placenta.[2]
VUE is diagnosed in 7–10% placentas in pregnancies. Roughly 80% of the VUE cases are in term placentas (greater than 37 weeks of pregnancy). A case of VUE in a placenta less than 32 weeks old should be screened for infectious villitis.[1]
## Contents
* 1 Pathogenesis
* 2 Diagnosis
* 2.1 Histopathology
* 2.2 Differential diagnosis
* 3 Prevention
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Pathogenesis[edit]
Inflammatory cells of maternal origin could access the foetal villous stoma in multiple ways:
The villous trophoblast barrier could be damaged. In the third trimester, syncytial knots are shed from the foetal placental villi. The shedding can strip the villous stroma. The barrier could breakdown either by upstream foetal thrombosis or ischemic damage from maternal infarction. The necrosis of syncytiotrophoblasts could arise as a result of the activation of coagulation components, complement system or platelets by antibodies or antiphospholipids.[4]
Syncytiotrophoblasts can be made to exhibit adhesion molecules (intracellular adhesion molecule 1, E-selectin) in VUE, although in normal conditions adhesion molecules are not expressed.[5]
Maternal lymphocytes can enter the foetal stroma by passing the villous trophoblastic barrier via the anchoring villi. The anchoring villi lose their layer of continuous epithelial syncytiotrophoblast as the villi mature into invasive intermediate trophoblasts through the developmental course of the placenta. A trophic factor, IL-15, for CD8+ memory T-cells is expressed by decidual stromal cells. The trafficking of maternal lymphocytes responding to an antigen in the chronic deciduitis could activate and enter via the decidua.[6][7]
VUE is a T-cell mediated, CD8+ dominating inflammatory reaction. VUE develops in the foetal fibrovasculature stroma of the placenta villi usually towards the end of pregnancy (term placentas).[1] The lymphocytes in VUE are of maternal origin. VUE is a host-derived inflammatory response happening within a donor allograft tissue. The non-T-cell component of the inflammatory infiltrate originates both from the maternal and placental side. Majority of the antigen-presenting cells were Hofbauer cells (macrophages) were of foetal origin.[8][9] Perivillous monocyte-macrophages and histiocytic giant cells were of maternal origin.[10] Foetal macrophages in VUE proliferate and are activated as a result of the up-regulation of MHC class 2 antigen expression.[11][12][13] Examination of a male placenta with VUE demonstrated that 11.2% of the intravillous CD3\+ lymphocytes were foetal, and 88.8% were maternal. Macrophages, intervillous lymphocytes, multinucleated giant cells were maternal; 10.5% of intravillous CD68\+ cells and 96.4% of perivillous CD68+ cells were maternal. Lymphocytes were predominantly maternal T-cells.[10] Maternal cells can enter the placental villi and the foetus as well.[14]
## Diagnosis[edit]
VUE can be of 2 types, low grade chronic villitis or high grade chronic villitis. Low grade chronic villitis involves less than 10 villi containing lymphocytes. Low grade chronic villitis can be either focal or multifocal. Focal has involved villi on only one glass slide, while multifocal has involved villi on at least two slides. High grade chronic villitis has more than 10 inflamed villi per focus. High grade chronic villitis is differentiated into diffuse and patchy. The term patchy is used if less than 30% of distal villi are involved. The term diffuse is used if more than 30% of distal villi are involved.[citation needed]
VUE has 2 prominent distinct patterns. Approximately 50% of the cases only involve the distal villi (mature intermediate and terminal villi) and do not involve the proximal stem villi, the anchoring villi embedded in the basal plate, and the chorionic plate. The second most common pattern (roughly 30% of VUE cases) involves the proximal stem villi (and possibly the chorionic plate) and the distal villi usually. This type of VUE is linked with foetal vascular obtrusive lesions (Obliterative Foetal Vasculopathy).[1][15]
VUE does not have specific clinical signs and symptoms suggesting diagnosis; but an analysis of the inflammatory filtrate can aid in diagnosis.[1] The composition of inflammatory infiltrate in VUE on a cellular level is primarily macrophages and lymphocytes. The relative proportions of cells vary case by case. The lymphocytes present in VUE are predominantly CD8+ T-cells then CD4. There is usually a ratio of 0.1 to 0.5 for CD4/CD8.[16][17] The macrophages present are mainly Mac387-, followed by CD68 and HAM56+. Class 2 major histocompatibility complex (MHC) antigens on macrophages are up-regulated at sites of VUE. Neutrophils should not be present at sites of VUE. VUE is a condition involving inflammation and not inflammation. High numbers of neutrophils are present in infectious villitis and not VUE.[1][13]
### Histopathology[edit]
Histomorphologically, VUE is characterized by a lymphocytic infiltrate of the chorionic villi without a demonstrable cause. Plasma cells should be absent; the presence of plasma cells suggests an infective etiology, e.g. CMV infection.[citation needed]
* Intermed. mag.
* High mag.
### Differential diagnosis[edit]
VUE is often confused with infectious villitis. They can be differentiated by the following characteristics: There are no signs of infection in either the mother or the infant with VUE. Infectious villi there is both maternal and foetal infection. VUE is more common than infectious villitis; Infectious villitis is present in approximately 1–4 births per 1000 births. VUE is present in approximately 76–136 births per 1000 births. VUE occurs in the term placenta, in the late third trimester of pregnancy. Infectious villitis occurs at the early-third to late-second trimester of the pregnancy. Infectious villitis involves a greater part of the placenta (umbilical cord, chorionic plate, membranes) compared to VUE (terminal and stem villi). Histologically VUE is characterised with more lymphocytes present than infectious villitis. Recurrence of infectious villitis is rare. VUE has a 10% to 15% recurrence rate.[1]
## Prevention[edit]
There are no known prevention methods for VUE, but it is predicted that it could be due to infection by Treponema pallidum, Toxoplasma gondi, and cytomegalovirus.[1]
## Epidemiology[edit]
In New Zealand VUE is more common in Caucasians than in Maori and Asian ancestry. Obese women are more likely to develop VUE; this could be due to obese women having larger placentas, thus having a greater number of villous macrophages which could increase the efficiency of antigen presentation resulting in VUE.[18]
## See also[edit]
* Intrauterine growth restriction
* Placenta
* TORCH infections
## References[edit]
1. ^ a b c d e f g h Redline, RW. (Oct 2007). "Villitis of unknown etiology: noninfectious chronic villitis in the placenta". Hum Pathol. 38 (10): 1439–46. doi:10.1016/j.humpath.2007.05.025. PMID 17889674.
2. ^ a b Tamblyn J, Lissauer D, Powell R, Cox P, Kilby M (2013). "The immunological basis of villitis of unknown etiology – Review". Placenta. 34 (10): 846–55. doi:10.1016/j.placenta.2013.07.002. PMID 23891153.
3. ^ Feeley L, Mooney EE (2010). "Villitis of unknown aetiology: correlation of recurrence with clinical outcome". J Obstet Gynaecol. 30 (5): 476–9. doi:10.3109/01443611003802339. PMID 20604650.
4. ^ Nelson DM, Crouch EC, Curran EM, Farmer DR (1990). "Trophoblast interaction with fibrin matrix. Epithelialization of perivillous fibrin deposits as a mechanism for villous repair in the human placenta". The American Journal of Pathology. 136 (4): 855–65. PMC 1877640. PMID 2327472.
5. ^ Labarrere C, Ortiz M, Sosa M, Campana G, Wernicke M, Baldridge L, Terry C, DiCarlo H (2005). "Syncytiotrophoblast intercellular adhesion molecule-1 expression in placental villitis of unknown cause". American Journal of Obstetrics and Gynecology. 193 (2): 483–488. doi:10.1016/j.ajog.2004.12.090. PMID 16098874.
6. ^ Ashkar A, Black G, Wei Q, He H, Liang L, Head J, Croy B (1992). "Assessment of Requirements for IL-15 and IFN Regulatory Factors in Uterine NK Cell Differentiation and Function During Pregnancy". The Journal of Immunology. 188 (3): 2937–2944. doi:10.4049/jimmunol.171.6.2937. PMID 12960317.
7. ^ Liu K, Catalfamo M, Li Y, Henkart P, Weng N (2002). "IL-15 mimics T cell receptor crosslinking in the induction of cellular proliferation, gene expression, and cytotoxicity in CD8+ memory T cells". Proceedings of the National Academy of Sciences. 99 (9): 6192–6197. doi:10.1073/pnas.092675799. PMC 122925. PMID 11972069.
8. ^ Labarrere C, Faulk W (1995). "Maternal Cells in Chorionic Villi From Placentae of Normal and Abnormal Human Pregnancies". American Journal of Reproductive Immunology. 33 (1): 54–59. doi:10.1111/j.1600-0897.1995.tb01138.x.
9. ^ Redline RW, Patterson P (1993). "Villitis of unknown etiology is associated with major infiltration of fetal tissue by maternal inflammatory cells". The American Journal of Pathology. 143 (2): 473–9. PMC 1887041. PMID 8342596.
10. ^ a b Myerson D, Parkin R, Benirschke K, Tschetter C, Hyde S (2006). "The Pathogenesis of Villitis of Unknown Etiology: Analysis with a New Conjoint Immunohistochemistry-in Situ Hybridization Procedure to Identify Specific Maternal and Fetal Cells". Pediatric and Developmental Pathology. 9 (4): 257–265. doi:10.2350/08-05-0103.1. PMID 16944988.
11. ^ Altemani A (1992). "Immunohistochemical Study of the Inflammatory Infiltrate in Villitis of Unknown Etiology". Pathology – Research and Practice. 188 (3): 303–309. doi:10.1016/S0344-0338(11)81208-2.
12. ^ Kim M, Nien J, Kim C, Kim Y, Kim G, Goncalves L, Oh S, Chaiworapongsa T, Mazor M, Romero R (2004). "Villitis of unknown etiology as a placental counterpart of transplantation rejection: The demonstration of cd8+ T lymphocyte and NK cell infiltration in this lesion". American Journal of Obstetrics and Gynecology. 191 (6): S87. doi:10.1016/j.ajog.2004.10.194.
13. ^ a b Labarrere C, Faulk W (1990). "MHC Class II Reactivity of Human Villous Trophoblast in Chronic Inflammation of Unestablished Etiology". American Journal of Obstetrics and Gynecology. 50 (5): 812–816. doi:10.1097/00007890-199011000-00014. PMID 2238057.
14. ^ Nelson JL (2002). "Microchimerism: incidental byproduct of pregnancy or active participant in human health?". Trends in Molecular Medicine. 8 (3): 109–113. doi:10.1016/s1471-4914(01)02269-9. PMID 11879770.
15. ^ Redline R, Ariel I, Baergen R, deSa D, Kraus F, Roberts D, Sander C (2004). "Fetal Vascular Obstructive Lesions: Nosology and Reproducibility of Placental Reaction Patterns". Pediatric and Developmental Pathology. 7 (5): 443–52. doi:10.1007/s10024-004-2020-x. PMID 15547768.
16. ^ Brito H, Juliano P, Altemani C, Altemani A (2005). "Is the immunohistochemical study of the inflammatory infiltrate helpful in distinguishing villitis of unknown etiology from non-specific infection villitis?". Placenta. 26 (10): 839–841. doi:10.1016/j.placenta.2004.10.012. PMID 16169075.
17. ^ Kapur P, Rakheja D, Gomez A, Sheffield J, Sanchez P, Rogers B (2004). "Characterization of Inflammation in Syphilitic Villitis and in Villitis of Unknown Etiology". Pediatric and Developmental Pathology. 7 (4): 453–458. doi:10.1007/s10024-004-2124-3. PMID 15547769.
18. ^ Becroft D, Thompson J, Mitchell E (2005). "Placental villitis of unknown origin: Epidemiologic associations". American Journal of Obstetrics and Gynecology. 192 (1): 264–271. doi:10.1016/j.ajog.2004.06.062. PMID 15672035.
## External links[edit]
Classification
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Villitis of unknown etiology | c1300128 | 28,458 | wikipedia | https://en.wikipedia.org/wiki/Villitis_of_unknown_etiology | 2021-01-18T19:09:31 | {"wikidata": ["Q7931112"]} |
A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Myxofibrosarcoma | c3714524 | 28,459 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79105 | 2021-01-23T18:21:05 | {"umls": ["C3714524"], "icd-10": ["C49.9"], "synonyms": ["Fibromyxosarcoma", "Myxoid malignant fibrous histiocytoma"]} |
Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities. Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease.
FPLD2 is caused by mutations in the LMNA gene and inheritance is autosomal dominant. Treatment aims to correct metabolic abnormalities and manage complications. This may involve medications, monitoring the diet, and exercise. Plastic surgery may be considered by some individuals. People with FPL2 are encouraged to seek counseling and support after being diagnosed, as the disorder can cause anxiety and psychological distress. The long-term health outlook generally depends on the severity of complications such as diabetes, pancreatitis, and heart disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial partial lipodystrophy type 2 | c1720860 | 28,460 | gard | https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 | 2021-01-18T18:00:33 | {"mesh": ["D052496"], "omim": ["151660"], "orphanet": ["2348"], "synonyms": ["FPLD2", "Lipodystrophy, familial partial, Dunnigan type", "Lipodystrophy, familial, of limbs and lower trunk", "Lipodystrophy, reverse partial", "Lipoatrophic diabetes", "FPL2", "Lipodystrophy, familial partial, type 2", "Dunnigan syndrome", "Familial partial lipodystrophy, Dunnigan type"]} |
Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Brachymorphism-onychodysplasia-dysphalangism syndrome | c1862082 | 28,461 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1292 | 2021-01-23T18:43:59 | {"gard": ["918"], "mesh": ["C536242"], "omim": ["113477"], "umls": ["C1862082"], "icd-10": ["Q87.1"], "synonyms": ["BOD syndrome", "Senior syndrome"]} |
Eyelid dermatitis is commonly related to atopic dermatitis or allergic contact dermatitis.[1]:78 Volatile substances, tosylamide, epoxy hardeners, insect sprays, and lemon peel oil may be implicated, with many cases of eyelid contact dermatitis being caused by substances transferred by the hands to the eyelids.[1]:78
## Contents
* 1 Signs and Symptoms
* 2 Forms
* 3 Causes, Risks, and Complications
* 4 Prevention and treatment
* 5 See also
* 6 References
## Signs and Symptoms[edit]
Dermatitis on the eyelids causes inflammation of the thin, sensitive skin around the eyes. The eyelids become irritated, swollen, dry, and reddened. It can affect one or both of the eyes. If this condition continues, the eyelids can be thickened by lichenification. If it is caused by an irritant or allergen, symptoms typically occur within a few hours or days of contact with a trigger substance. Symptoms should decrease when the trigger substance is removed. [2]
## Forms[edit]
There are two common forms of Eyelid dermatitis. Allergic contact dermatitis develops because of an allergic reaction that causes inflammation of the skin, such as pollen in a person with hay fever. Some cosmetic products or metals, such as nickel, are common causes of allergic skin reactions. Irritant contact dermatitis is caused by the eyelid coming into direct contact with a substance that damages the outer layer of the skin, such as certain types of makeup, soaps, and detergents. Other forms of dermatitis on the eyelids include atopic dermatitis is a form of eczema that can affect the eyelids, and seborrheic dermatitis which is a common condition that causes the skin to become inflamed and flakey. Seborrheic dermatitis often occurs on the scalp but can also affect oily areas of skin, such as the eyelids.[3]
## Causes, Risks, and Complications[edit]
Allergens commonly causing allergic eyelid dermatitis consisted of fragrances, metals, neomycin, oleamidopropyl dimethylamine, tosylamide formaldehyde resin, benzalkonium chloride, and other preservatives.[4] Irritants for eyelid contact dermatitis include soaps and detergents, acids and alkalis, chemicals such as chlorine, dust particles, hydrophobic substances, and cosmetics such as eyeliner, eye shadow, mascara and sunscreen. These substances may touch the eyelids directly or be transferred from the fingers. Common items that are irritants and allergens include certain makeup brands, sunscreens, perfumes, swimming goggles, eye drops, false eyelashes, contact lens solution, and airborne particles.[5][6] [7]Age(infants are more susceptible), genetics, and poor hygiene of the skin are risk factors for eyelid dermatitis. Other risk factors include professions that expose you to an allergen, medications(Neomycin, Beta blocker), and other medical conditions such as asthma, hay fever, acne, psoriasis). Possible complications include skin infection, eye infection, and insomnia.
## Prevention and treatment[edit]
Some ways to prevent eyelid dermatitis. includes avoiding scratching or rubbing the eyes, which may cause further inflammation and damage. Avoiding certain foods, moisturizers that contain triggers, wearing protective gear when necessary, moisturizing the area, using less makeup, and spending less time in the shower/using milder soaps and shampoos, are all effective ways to prevent a flare up of eyelid dermatitis.
The best way to stop eyelid dermatitis is to find the trigger and remove it. However, if that doesn't happen, there are several things you could do. Moisturizing the area to prevent excess scratching or itching is beneficial. Corticosteroids, can be directly applied to the eyelid as cream to reduce dryness and inflammation. Another medication is calcineurin inhibitors, which can be applied as a cream or orally. However, this should not be lightly used because it my suppress immune function.[8][9]
## See also[edit]
* Skin lesion
## References[edit]
1. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ https://www.medicalnewstoday.com/articles/321004#complications
3. ^ https://www.medicalnewstoday.com/articles/321004#types-and-causes
4. ^ https://onlinelibrary.wiley.com/doi/full/10.1111/j.1600-0536.2006.00927.x
5. ^ https://www.dermnetnz.org/topics/eyelid-contact-dermatitis/
6. ^ https://journals.lww.com/dermatitis/Abstract/2007/06000/Common_Contact_Allergens_Associated_with_Eyelid.3.aspx
7. ^ https://www.mayoclinic.org/diseases-conditions/contact-dermatitis/symptoms-causes/syc-20352742
8. ^ https://pubmed.ncbi.nlm.nih.gov/18346395/
9. ^ https://www.healthline.com/health/eyelid-dermatitis
* 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
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Eyelid dermatitis | c0457798 | 28,462 | wikipedia | https://en.wikipedia.org/wiki/Eyelid_dermatitis | 2021-01-18T18:28:55 | {"wikidata": ["Q5422769"]} |
A number sign (#) is used with this entry because of evidence that CHIME syndrome, also known as Zunich neuroectodermal syndrome, is caused by compound heterozygous mutation in the PIGL gene (605947) on chromosome 17p11.
Description
Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Clinical Features
Zunich and Kaye (1983, 1984) and Zunich et al. (1985) described 2 unrelated children with a seemingly distinct neuroectodermal syndrome characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, mental retardation, and remarkably similar facial features. The male patient had cleft palate, and the female patient had tetralogy of Fallot. Zunich et al. (1988) reported that the male patient had a brother born with similar features. Bifid uvula and submucous cleft were present. Transposition of the great vessels was found on cardiac catheterization. Retinal colobomas were present bilaterally on ophthalmologic evaluation, and hearing loss was detected by auditory evoked responses. The skin changes were less severe than in the other 2 patients. Zunich et al. (1988) referred to a fourth patient, an Amish male infant, with similar features.
Shashi et al. (1995) reported a fifth case of the Zunich neuroectodermal syndrome. They suggested the disorder be called CHIME syndrome (for oculo colobomas, congenital heart disease, early-onset ichthyosiform dermatosis, mental retardation and ear anomalies (conductive hearing loss)). Alternatively, the 'E' could stand for seizures (epilepsy). Shashi et al. (1995) stated that ichthyosis and neurologic abnormalities, including seizures and mental retardation, have been described in several genetic syndromes, including Ruds syndrome (308200), Refsum disease (266500), Sjogren-Larsson syndrome (270200), Netherton syndrome (256500), the keratitis, ichthyosis, and deafness (KID) syndrome (148210), and the ichthyosis, brittle hair, impaired intelligence, decreased fertility, and short stature (IBIDS) syndrome (601675). Although there is some overlap in the clinical features, certain characteristics help to distinguish one disorder from another.
Tinschert et al. (1996) reported a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome. She had characteristic craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Hair, skin, and nail abnormalities were consistent with an ectodermal dysplasia syndrome.
Schnur et al. (1997) reported a child with this syndrome who developed acute lymphoblastic leukemia at age 4.5 years. Her major problems included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss.
Molecular Genetics
In 6 unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (2012) identified compound heterozygosity for 2 mutations in the PIGL gene. All patients carried a founder missense mutation on 1 allele (L167P; 605947.0001). Five patients carried a truncating mutation in the PIGL gene on the other allele (605947.0002-605947.0004), whereas the sixth patient had a 1-Mb deletion of chromosome 17p12-p11.2 including the PIGL gene on the other allele. All of the patients had previously been reported (see, e.g., Zunich and Kaye (1983, 1984); Zunich et al., 1985; Zunich et al., 1988; Schnur et al., 1997; Shashi et al., 1995, and Tinschert et al., 1996). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Cell lines derived from 2 patients showed deficiency of 2 GPI anchor markers, including CD59 (107271), confirming that the disorder is due to a defect in PIGL. Ng et al. (2012) noted that GPI anchor deficiencies cause remarkable clinical diversity.
INHERITANCE \- Autosomal recessive GROWTH Height \- Birth length > 90th percentile Weight \- Birth weight > 90th percentile HEAD & NECK Head \- Brachycephaly Face \- Prominent forehead \- Short philtrum Ears \- Conductive hearing loss \- Overfolded helices Eyes \- Retinal coloboma \- Hypertelorism \- Epicanthal folds Nose \- Broad, flat nasal bridge Mouth \- Full lips \- Wide mouth \- Cleft palate Teeth \- Widely spaced teeth \- Bifid incisor Neck \- Webbed neck CARDIOVASCULAR Heart \- Ventricular septal defect \- Tetralogy of Fallot \- Peripheral pulmonic stenosis Vascular \- Transposition of great vessels CHEST Breasts \- Small nipples \- Low-set nipples GENITOURINARY Kidneys \- Hydronephrosis \- Duplicated renal collecting system Ureters \- Ureteropelvic junction obstruction SKELETAL Skull \- Flattened occiput Hands \- Thickened palms \- Large hands \- Fifth finger clinodactyly/camptodactyly Feet \- Thickened soles \- Large feet \- Broad second toes SKIN, NAILS, & HAIR Skin \- Migratory ichthyosiform dermatosis \- Thickened palms and soles Hair \- Light, fine hair \- Sparse hair NEUROLOGIC Central Nervous System \- Mental retardation \- Seizures \- Cerebral atrophy \- Hypotonia Behavioral Psychiatric Manifestations \- Violent behavior \- Self-abusive behavior NEOPLASIA \- Acute lymphoblastic leukemia (in 1 patient) MISCELLANEOUS \- CHIME is an acronym - ocular Colobomas, Heart defect, Ichthyosiform dermatosis, Mental retardation, Ear anomalies \- Wide-based gait MOLECULAR BASIS \- Caused by mutation in the phosphatidylinositol glycan, class L gene (PIGL, 605947.0001 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME | c1848392 | 28,463 | omim | https://www.omim.org/entry/280000 | 2019-09-22T16:21:09 | {"mesh": ["C536729"], "omim": ["280000"], "orphanet": ["3474"], "synonyms": ["Alternative titles", "CHIME SYNDROME", "ZUNICH NEUROECTODERMAL SYNDROME", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5"]} |
A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Choledochal cyst | c0008340 | 28,464 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480501 | 2021-01-23T18:01:03 | {"mesh": ["D015529"], "synonyms": ["Congenital cystic dilatation of the biliary tract"]} |
A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.
## Epidemiology
Prevalence of cystinuria has high ethnogeographic variation, ranging from 1:2,500 in the Libyan Jewish population to 1:100,000 in Sweden. The mean global value is estimated at 1:7,000.
## Clinical description
Cystinuria develops in patients of any age but renal colic due to cystine stone appears generally in the first two decades of life, with a median age of onset of 15 years. Male patients tend to present with more aggressive disease, and occurrence of renal stones before the age of 3 is more frequent in males. Urolithiasis is bilateral in more than 75% of cases and recurrence rate is over 60%, with a higher rate in male patients. Renal insufficiency is uncommon.
## Etiology
Cystinuria is due to mutations in SLC3A1 (2p21) and SLC7A9 (19q13.11). Both genes are expressed in the renal proximal tubules and the intestinal tract and code for subunits of trans-epithelial transporters for the dibasic amino acids cystine, ornithine, lysine and arginine. The transporter deficiency leads to accumulation of cystine in the urine and subsequent precipitation of cystine crystals or even stone formation. Classification of patients now relies on genetic criteria: type A and type B cystinuria are respectively associated with mutations in the genes SLC3A1 and SLC7A9. Heterozygotes with mutation in one SLC3A1 allele are unaffected, while those who carry mutation in a single SLC7A9 allele show moderately increased urine output of cystine and dibasic amino acids and have a higher risk of developing renal stones when compared to the general population.
## Diagnostic methods
Diagnosis relies on physical examination, detection of cystine stones and assay of excreted cystine in urine, which in children and young infants may be normalized for urine creatinine. Analysis reveals urinary cystine excretion over 300 - 400 mg/day. Renal ultrasound imaging is the method of choice for stone detection and follow-up. Molecular genetics may confirm diagnosis.
## Differential diagnosis
Differential diagnosis includes three syndromes in which cystinuria is present: 2p21 deletion syndrome, hypotonia-cystinuria syndrome (HCS) and atypical HCS.
## Antenatal diagnosis
Detection of a hyperechoic colon at routine ultrasound scan before 36 weeks of gestation may suggest a possible diagnosis of cystinuria with a high positive predictive value (89%). In any case, confirmation of the diagnosis should be made after delivery.
## Genetic counseling
Type A cystinuria has an autosomal recessive mode of inheritance, whereas dominant transmission with incomplete penetrance is typically observed in type B cystinuria.
## Management and treatment
Treatment requires several approaches to prevent stone formation or growth: high hydration to reduce urinary cystine osmolality, urinary alkalinization to increase cystine solubility (mainly with potassium citrate), and pharmacological cystine-binding medications (alpha-mercaptopropionylglycine, or tiopronin, and D-Penicillamine) to lower free cystine levels in the urine. Measuring the free fraction of cystine in the urine enables titration of the treatment with cystine binding drugs. Side effects of D-Penicillamine and tiopronin, in particular proteinuria, are not uncommon and require routine monitoring with dipsticks and frequently lead to discontinuation of the treatment; they also require zinc, copper and/or vitamin B6 supplementation. Low protein diet in adults or even adolescents is not very effective. When a cystine stone is still small (under 12 mm), extracorporeal shock wave lithotripsy is feasible, but with low efficiency due to the consistency of cystine stones. Over this size, laser stone fragmentation or even percutaneous nephrolithotomy is necessary.
## Prognosis
Prognosis is good but low patient compliance and recurrence of stone formation and subsequent interventions can very rarely induce renal insufficiency.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cystinuria | c0010691 | 28,465 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=214 | 2021-01-23T16:54:36 | {"gard": ["6237"], "mesh": ["D003555"], "omim": ["220100"], "umls": ["C0010691", "C0268646"], "icd-10": ["E72.0"], "synonyms": ["Cystinuria-lysinuria syndrome"]} |
Theiler's disease
Other namesIdiopathic acute hepatitis disease (IAHD), serum-associated hepatitis, serum sickness, postvaccinal hepatitis
SpecialtyVeterinary medicine
Theiler's disease is a viral hepatitis that affects horses. It is one of the most common cause of acute hepatitis and liver failure in the horse.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Lab tests
* 3.2 Differential diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
* 9 External links
## Signs and symptoms[edit]
There is a rapid onset of clinical signs over the period of 2–7 days, beginning with anorexia, lethargy, and hyperbilirubinemia (icterus and discolored urine). Signs of hepatic encephalopathy (ataxia, blindness, aggression, and coma) and fever can also occur.[2][3] Other signs include photodermatitis, hemorrhagic diathesis, dependent edema, and colic. The reason for colic is unknown, but is thought to be due to rapid decrease in the size of the liver, and the increased risk of gastric impaction.[3] Rarely, weight loss can occur.[1][2]
## Cause[edit]
The most current theory is a result of a recent study that suggests it is caused by a pegivirus, referred to as Theiler's disease-associated virus (TDAV).[2] Eight horses that had received prophylactic botulinum antitoxin and developed subsequent signs of Theiler's disease were subjected to a test for a viral infection based on RNA sequencing techniques. When TDAV was found, the original source of virus (the antitoxin) was injected into 4 additional healthy horses, with one displaying increased liver enzymes and all 4 having increased levels of TDAV, showing that the virus can be spread by inoculation. Measuring levels of virus in the originally infected horses has shown that the disease can become chronic, with some horses displaying low virus levels one year after initial infection. All horses that were initially negative remained so, suggesting that the virus is poorly transmitted horizontally.[2][4]
However, not all horses that tested positive for this virus showed clinical signs, so additional causative factors such as immune mediated hypersensitivity or co-infections with other agents may be required to produce disease.
## Diagnosis[edit]
At present this can only be made definitively by liver biopsy or post mortem examination.[1] Given the isolation of a causative virus it should soon be possible to diagnose this by serology, polymerase chain reaction or viral culture. On necropsy, the liver will be small, flaccid, and "dish-rag" in appearance. It has a mottled and bile stained surface. On microscopy there is marked centrilobular to midzonal hepatocellular necrosis and a mild to moderate mononuclear infiltrate. Mild to moderate bile duct proliferation may also be present. On radiology, the liver may be shrunken and difficult to visualize on ultrasound.[3] Ascites may be present.
### Lab tests[edit]
The most characteristic feature are elevated levels of gamma glutamyl transferase (100–300 IU/L),[3] aspartate transaminase (>1000 IU/L)[3] and sorbitol dehydrogenase, with AST levels > 4000 IU/L indicating a poor prognosis.[3] High levels of unconjugated and total bilirubin, and serum bile acids, can be seen. Moderate to severe acidosis, leukocytosis, polycythaemia, increased creatine kinase and hyperammonemia may be present, and hemolysis can occur at the end stage. The prothrombin time (PT) and partial thromboplastin time (PTT) is often prolonged.[1][3] Subclinical horses may only show elevated liver enzymes without any other clinical signs.[2] Horses are rarely hypoglycemic, but blood glucose monitoring is ideal to indicate which horses may be benefited by glucose treatment.[3]
### Differential diagnosis[edit]
This is quite extensive and includes
* acute infectious hepatitis
* acute mycotoxicosis
* acute pyrrolizidine toxicosis
* haemolytic disease
* hepatotoxins
## Treatment[edit]
There is currently no specific therapy. Intravenous fluids and treatment of the hepatic encephalopathy may help. Increasing dietary levels of branched chain amino acids and feeding low protein diets can help signs of hepatic encephalopathy, which is often accomplished by feeding small amounts of grain and/or beet pulp, and removing high-protein feedstuffs such as alfalfa hay.[3] Grazing on non-legume grass may be acceptable if it is late summer or fall, although the horse should only be permitted to eat in the evening so as to avoid photosensitization.[3] Due to the risk of gastric impaction, stomach size should be monitored.
Sedation is minimized and used only to control behavior that could lead to injury of the animal and to allow therapeutic procedures, and should preferably involve a sedative other than a benzodiazepine. Stressing the animal should be avoided if at all possible. Plasma transfusions may be needed if spontaneous bleeding occurs, to replace clotting factors. Antibiotics are sometimes prescribed to prevent bacterial translocation from the intestines.[3] Antioxidants such as vitamin E, B-complex vitamins, and acetylcysteine may be given. High blood ammonia is often treated with oral neomycin, often in conjunction with lactulose, metronidazole and probiotics, to decrease production and absorption of ammonia from the gastrointestinal tract.[3]
## Prognosis[edit]
This depends on the degree of hepatocellular necrosis that has occurred. Decreases in the SDH and prothrombin time along with improvement in appetite are the best positive predictive indicators of recovery.[1] GGT may remain elevated for weeks even if the horse is recovering. Horses that survive for greater than one week[1] and that continue to eat usually recover. Cases with rapid progression of clinical signs, uncontrollable encephalopathy, haemorrhage or haemolysis have a poor prognosis.[2] Horses that display clinical signs have a mortality rate of 50–90%.[2]
## Epidemiology[edit]
This condition most commonly occurs after the administration of a horse origin biological agent such as equine-derived antiserum, and usually occurs 4–10 weeks[1] after the event. Diseases that have been vaccinated against using equine-origin antiserum, resulting in subsequent Theiler's disease, include: African horse sickness, Eastern and Western Equine Encephalitis, Bacillus anthracis, tetanus antitoxin, Clostridium perfringens, Clostridium botulinum, Streptococcus equi subspecies equi, Equine influenza, Equine herpesvirus type 1, pregnant mare's serum, and plasma.[1] Although it occurs sporadically, It appears to be spreadable within a premises, and there have been outbreaks occurring on farms involving multiple horses over several months.[1] In the Northern hemisphere it is most common between August to November. It is seen almost exclusively in adult horses, and lactating broodmares given tetanus antitoxin post foaling may be more susceptible.[1]
## History[edit]
This disease was described in 1919 by Arnold Theiler, a South African veterinary surgeon, after vaccinating horses against African horse sickness using a live virus vaccine and equine antiserum. It was later described in the United States after vaccinating horses for Eastern Equine Encephalitis, again using live virus vaccines and equine-derived antiserum.[1] It has since been reported throughout North America and Europe.[2]
## References[edit]
1. ^ a b c d e f g h i j k Reed, Stephen M., Waewick M. Bayly, and Debra C. Sellon. (2010). Equine Internal Medicine (Third ed.). St Louis, MO: Saunders. pp. 957–959. ISBN 978-1-4160-5670-6.CS1 maint: multiple names: authors list (link)
2. ^ a b c d e f g h Chandriani S, Skewes-Cox P, Zhong W, Ganem DE, Divers TJ, Van Blaricum AJ, Tennant BC, Kistler AL (2013) Identification of a previously undescribed divergent virus from the Flaviviridae family in an outbreak of equine serum hepatitis. Proc Natl Acad Sci USA 110(15):E1407-15. doi: 10.1073/pnas.1219217110
3. ^ a b c d e f g h i j k l Orsini, James and Thomas Divers. (2014). Equine Emergencies (4th ed.). St. Louis, MO: Elsevier. pp. 269–270. ISBN 978-1-4557-0892-5.
4. ^ Ed Yong (18 March 2013). "Distinctive virus behind mystery horse disease". Nature. Retrieved 11 February 2015.
## External links[edit]
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Theiler's disease | c3669220 | 28,466 | wikipedia | https://en.wikipedia.org/wiki/Theiler%27s_disease | 2021-01-18T19:01:56 | {"wikidata": ["Q11144820"]} |
Cervicogenic headache is a type of headache characterised by chronic hemicranial pain referred to the head from either the cervical spine or soft tissues within the neck.[1][2] The main symptoms of cervicogenic headaches include pain originating in the neck that can travel to the head or face, headaches that get worse with neck movement, and limited ability to move the neck.
Diagnostic imaging can display lesions of the cervical spine or soft tissue of the neck that can be indicative of a cervicogenic headache.[3] When being evaluated for cervicogenic headaches, it is important to rule out a history of migraines and traumatic brain injuries.
Studies show that combining interventions such as moist heat applied to the area of pain, spinal and cervical manipulations, and neck massages all help reduce or relieve symptoms. Neck exercises are also beneficial. Specifically, craniocervical flexion, or forward bending of the neck, against light resistance helps increase muscular stability of the head and neck region. This may reduce head and neck pain. It is recommended to seek assistance from trained health professionals, such as physical therapists, who can teach proper techniques and doses of exercise.[4] With proper treatment, symptoms often resolve in three months.[3]
## See also[edit]
* NIH classification of headaches: Cervicogenic
* Barré–Liéou syndrome
## References[edit]
1. ^ Page, P. (2011). "Cervicogenic headaches: An evidence-led approach to clinical management". International Journal of Sports Physical Therapy. 6 (3): 254–66. PMC 3201065. PMID 22034615.
2. ^ Biondi, D. M. (2005). "Cervicogenic with Dizziness . headache: A review of diagnostic and treatment strategies". Journal of the American Osteopathic Association. 105 (4 supplement): S16-22. PMID 15928349. Archived from the original on 2013-10-16. Retrieved 2013-11-07.
3. ^ a b Varatharajan, Sharanya; Ferguson, Brad; Chrobak, Karen; Shergill, Yaadwinder; Côté, Pierre; Wong, Jessica J.; Yu, Hainan; Shearer, Heather M.; Southerst, Danielle; Sutton, Deborah; Randhawa, Kristi (July 2016). "Are non-invasive interventions effective for the management of headaches associated with neck pain? An update of the Bone and Joint Decade Task Force on Neck Pain and Its Associated Disorders by the Ontario Protocol for Traffic Injury Management (OPTIMa) Collaboration". European Spine Journal. 25 (7): 1971–1999. doi:10.1007/s00586-016-4376-9. ISSN 0940-6719. PMID 26851953. S2CID 4393529.
4. ^ Côté, Pierre; Yu, Hainan; Shearer, Heather M.; Randhawa, Kristi; Wong, Jessica J.; Mior, Silvano; Ameis, Arthur; Carroll, Linda J.; Nordin, Margareta; Varatharajan, Sharanya; Sutton, Deborah (2019). "Non-pharmacological management of persistent headaches associated with neck pain: A clinical practice guideline from the Ontario protocol for traffic injury management (OPTIMa) collaboration". European Journal of Pain. 23 (6): 1051–1070. doi:10.1002/ejp.1374. ISSN 1532-2149. S2CID 73433670.
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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cervicogenic headache | c0458101 | 28,467 | wikipedia | https://en.wikipedia.org/wiki/Cervicogenic_headache | 2021-01-18T19:07:18 | {"mesh": ["D051298"], "umls": ["C0458101"], "wikidata": ["Q16545548"]} |
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as those known as Chiari malformation and polymicrogyria. Abnormal brain development leads to intellectual disability in most affected individuals and can also cause seizures or weak muscle tone (hypotonia). In particular, polymicrogyria is associated with speech delays and difficulty chewing and swallowing.
The capillary malformations characteristic of MCAP are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations usually look like pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, particularly the nose, the upper lip, and the area between the nose and upper lip (the philtrum). In other people with MCAP, the malformations appear as patches spread over the body or as a reddish net-like pattern on the skin (cutis marmorata).
In some people with MCAP, excessive growth affects not only the brain but other individual parts of the body, which is known as segmental overgrowth. This can lead to one arm or leg that is bigger or longer than the other or a few oversized fingers or toes. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly).
Additional features of MCAP can include flexible joints and skin that stretches easily. Some affected individuals are said to have doughy skin because the tissue under the skin is unusually thick and soft.
The gene involved in MCAP is also associated with several types of cancer. Only a small number of individuals with MCAP have developed tumors (in particular, a childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in the nervous system known as meningiomas).
## Frequency
The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported.
## Causes
MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110α) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body, including the brain and blood vessels.
PIK3CA gene mutations involved in MCAP alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to the overgrowth of the brain, blood vessels, and other organs and tissues characteristic of MCAP.
MCAP is one of several overgrowth syndromes, including Klippel-Trenaunay syndrome, that are caused by mutations in the PIK3CA gene. Together, these conditions are known as the PIK3CA-related overgrowth spectrum (PROS).
### Learn more about the gene associated with Megalencephaly-capillary malformation syndrome
* PIK3CA
## Inheritance Pattern
MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Megalencephaly-capillary malformation syndrome | c1865285 | 28,468 | medlineplus | https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["6950"], "mesh": ["C536142"], "omim": ["602501"], "synonyms": []} |
Corneodermatoosseous syndrom
Other namesCDO syndrome[1]
This condition is inherited in an autosomal dominant manner
Corneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits.[2]
## See also[edit]
* Palmoplantar keratoderma
* Keratoderma
* Skin lesion
* Terminal osseous dysplasia with pigmentary defects
* List of cutaneous conditions
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Corneodermatoosseous syndrome". www.orpha.net. Retrieved 19 April 2019.
2. ^ Stevens, Howard P.; David P. Kelsell, and Irene M. Leigh (2003). "Chapter 52: The Inherited Keratodermas of Palms and Soles". In Freedberg; et al. (eds.). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 513. ISBN 0-07-138067-1.
## External links[edit]
Classification
D
* ICD-10: H18.5
* OMIM: 122440
* MeSH: C536444
External resources
* Orphanet: 3194
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Corneodermatoosseous syndrome | c2931506 | 28,469 | wikipedia | https://en.wikipedia.org/wiki/Corneodermatoosseous_syndrome | 2021-01-18T19:05:14 | {"gard": ["1531"], "mesh": ["C537488", "C536444"], "umls": ["C2931506", "C1852542"], "orphanet": ["3194"], "wikidata": ["Q5171588"]} |
A number sign (#) is used with this entry because of evidence that heterozygous mutation in the CHCHD2 gene (616244) on chromosome 7p11.2 may be a rare cause of autosomal dominant Parkinson disease (PARK22).
Clinical Features
Funayama et al. (2015) identified a large 3-generation Japanese family in which a heterozygous mutation in the CHCHD2 gene cosegregated with autosomal dominant Parkinson disease (see MOLECULAR GENETICS). The mean age of onset among 8 affected members was 55.5 years (range, 48 to 61 years). Further screening of 340 index patients identified 3 additional patients with CHCHD2 variants. Among all families, most patients presented with typical parkinsonian features, including bradykinesia, rigidity, and gait disturbance. The mean age of onset among all 4 families was 56.2 years. A single patient presented as a child (age 10 years) and was 50 years old at the time of the report; his only symptoms were gait disturbance and upper limb essential tremor. All 8 patients tested had a clinical response to L-dopa; 3 of those had that response wear off. One person had depression and smell disturbance. Nine of 12 patients had asymmetry at onset of symptoms.
Molecular Genetics
Using linkage analysis, exome sequencing, and whole-genome sequencing, Funayama et al. (2015) identified a heterozygous thr61-to-ile mutation (T61I; 616244.0001) in 8 affected members of a Japanese family with autosomal dominant Parkinson disease (PARK22). Screening of 340 further index cases with autosomal dominant Parkinson disease by Sanger sequencing detected another patient with the T61I variant as well as an arg145 to gln (R145Q; 616244.0002) and c.300+5G-A (616244.0003) mutation in 1 patient each. To investigate whether CHCHD2 might be a susceptibility gene for sporadic Parkinson disease, Funayama et al. (2015) sequenced all CHCHD2 exons, including splice junctions, in 517 patients with sporadic Parkinson disease and 559 controls. They identified 2 SNPs with significantly different frequencies between cases and controls: -9T-G (OR 2.51, 95% CI 1.48-4.24, p = 0.0004) and 5C-T (OR 4.69, 95% CI 1.59-13.83, p = 0.0025). To confirm the link between CHCHD2 variants and the risk of sporadic Parkinson disease, Funayama et al. (2015) examined a previously reported genomewide association study on Parkinson disease in Japanese people (Satake et al., 2009). Although 1 SNP, rs816411, was found in an intron of CHCHD2, there was no significant difference in its frequency between patients and controls in that study.
In response to the report of Funayama et al. (2015), several groups independently investigated the pathogenicity of CHCHD2 variants in Parkinson disease and achieved results that called the findings of Funayama et al. (2015) into question. See 616244 for a discussion of these further reports.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Vascular \- Orthostatic hypotension ABDOMEN Gastrointestinal \- Constipation NEUROLOGIC Central Nervous System \- Fine tremor (in one 10-year-old child) \- Bradykinesia \- Resting tremor \- Gait disturbance \- Hyperreflexia MISCELLANEOUS \- Onset of Parkinson disease from 40 to 67 years \- Levodopa responsive MOLECULAR BASIS \- Caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 2 gene (CHCHD2, 616244.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | c4225238 | 28,470 | omim | https://www.omim.org/entry/616710 | 2019-09-22T15:48:07 | {"omim": ["616710"]} |
Normally the optic nerve fibers are myelinated only after their passage through the lamina cribrosa. Sometimes, however, the myelin sheath begins sooner, producing a white area near the disc. Francois (1961) cited a family with 10 cases in 2 generations and a few other instances suggesting dominant inheritance. In a few descriptions the anomaly was limited to 1 sibship. Pseudopapilledema (177800) is a distinct condition.
Eyes \- Myelinated optic nerve fibers \- White area at optic disc Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MYELINATED OPTIC NERVE FIBERS | c1834600 | 28,471 | omim | https://www.omim.org/entry/159500 | 2019-09-22T16:37:51 | {"omim": ["159500"]} |
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.
Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.
## Frequency
IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.
## Causes
Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.
### Learn more about the gene associated with Isobutyryl-CoA dehydrogenase deficiency
* ACAD8
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Isobutyryl-CoA dehydrogenase deficiency | c1969809 | 28,472 | medlineplus | https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency/ | 2021-01-27T08:25:31 | {"gard": ["10223"], "mesh": ["C535541"], "omim": ["611283"], "synonyms": []} |
Hyperemesis gravidarum
SpecialtyObstetrics
Gastroenterology
SymptomsNausea and vomiting such that weight loss and dehydration occur[1]
DurationOften gets better but may last entire pregnancy[2]
CausesUnknown[3]
Risk factorsFirst pregnancy, multiple pregnancy, obesity, prior or family history of hyperemesis gravidarum, trophoblastic disorder, history of an eating disorder[3][4]
Diagnostic methodBased on symptoms[3]
Differential diagnosisUrinary tract infection, high thyroid levels[5]
TreatmentDrinking fluids, bland diet, intravenous fluids[2]
MedicationPyridoxine, metoclopramide[5]
Frequency~1% of pregnant women[6]
Hyperemesis gravidarum (HG) is a pregnancy complication that is characterized by severe nausea, vomiting, weight loss, and possibly dehydration.[1] Feeling faint may also occur.[2] It is considered more severe than morning sickness.[2] Symptoms often get better after the 20th week of pregnancy but may last the entire pregnancy duration.[2]
The exact causes of hyperemesis gravidarum are unknown.[3] Risk factors include the first pregnancy, multiple pregnancy, obesity, prior or family history of HG, trophoblastic disorder, and a history of eating disorders.[3][4] Diagnosis is usually made based on the observed signs and symptoms.[3] HG has been technically defined as more than three episodes of vomiting per day such that weight loss of 5% or three kilograms has occurred and ketones are present in the urine.[3] Other potential causes of the symptoms should be excluded, including urinary tract infection and an overactive thyroid.[5]
Treatment includes drinking fluids and a bland diet.[2] Recommendations may include electrolyte-replacement drinks, thiamine, and a higher protein diet.[3][7] Some women require intravenous fluids.[2] With respect to medications, pyridoxine or metoclopramide are preferred.[5] Prochlorperazine, dimenhydrinate, ondansetron (sold under the brand-name Zofran) or corticosteroids may be used if these are not effective.[3][5] Hospitalization may be required.[3] Psychotherapy may improve outcomes.[3] Evidence for acupressure is poor.[3]
While vomiting in pregnancy has been described as early as 2,000 BC, the first clear medical description of HG was in 1852 by Paul Antoine Dubois.[8] HG is estimated to affect 0.3–2.0% of pregnant women.[6] While previously known as a common cause of death in pregnancy, with proper treatment this is now very rare.[9][10] Those affected have a lower risk of miscarriage but a higher risk of premature birth.[4] Some pregnant women choose to have an abortion due to HG symptoms.[7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Differential diagnosis
* 4.2 Investigations
* 5 Management
* 5.1 Intravenous fluids
* 5.2 Medications
* 5.3 Nutritional support
* 5.4 Alternative medicine
* 6 Complications
* 6.1 Pregnant woman
* 6.2 Infant
* 7 Epidemiology
* 8 History
* 8.1 Etymology
* 9 Notable cases
* 10 References
* 11 External links
## Signs and symptoms[edit]
When vomiting is severe, it may result in the following:[11]
* Loss of 5% or more of pre-pregnancy body weight
* Dehydration, causing ketosis,[12] and constipation
* Nutritional disorders, such as vitamin B1 (thiamine) deficiency, vitamin B6 (pyridoxine) deficiency or vitamin B12 (cobalamin) deficiency
* Metabolic imbalances such as metabolic ketoacidosis[11] or thyrotoxicosis[13]
* Physical and emotional stress
* Difficulty with activities of daily living
Symptoms can be aggravated by hunger, fatigue, prenatal vitamins (especially those containing iron), and diet.[14] Many women with HG are extremely sensitive to odors in their environment; certain smells may exacerbate symptoms. Excessive salivation, also known as sialorrhea gravidarum, is another symptom experienced by some women.
Hyperemesis gravidarum tends to occur in the first trimester of pregnancy[12] and lasts significantly longer than morning sickness. While most women will experience near-complete relief of morning sickness symptoms near the beginning of their second trimester, some sufferers of HG will experience severe symptoms until they give birth to their baby, and sometimes even after giving birth.[15]
A small percentage rarely vomit, but the nausea still causes most (if not all) of the same issues that hyperemesis with vomiting does.[citation needed]
## Causes[edit]
There are numerous theories regarding the cause of HG, but the cause remains controversial. It is thought that HG is due to a combination of factors which may vary between women and include genetics.[11] Women with family members who had HG are more likely to develop the disease.[16]
One factor is an adverse reaction to the hormonal changes of pregnancy, in particular, elevated levels of beta human chorionic gonadotropin (β-hCG).[17][18] This theory would also explain why hyperemesis gravidarum is most frequently encountered in the first trimester (often around 8–12 weeks of gestation), as β-hCG levels are highest at that time and decline afterward. Another postulated cause of HG is an increase in maternal levels of estrogens (decreasing intestinal motility and gastric emptying leading to nausea/vomiting).[11]
## Pathophysiology[edit]
Morning sickness
Although the pathophysiology of HG is poorly understood, the most commonly accepted theory suggests that levels of β-hCG are associated with it.[5] Leptin, a hormone that inhibits hunger, may also play a role.[19]
Possible pathophysiological processes involved are summarized in the following table:[20]
Source Cause Pathophysiology
Placenta β-hCG
* Distention of the gastrointestinal tract
* Crossover with TSH, causing gestational thyrotoxicosis[5]
* Placenta
* Corpus luteum
* Estrogen
* Progesterone
* Decreased gut mobility
* Elevated liver enzymes
* Decreased lower esophageal sphincter pressure
* Increased levels of sex steroids in hepatic portal system[21]
Gastrointestinal tract Helicobacter pylori Increased steroid levels in circulation[22]
## Diagnosis[edit]
Hyperemesis gravidarum is considered a diagnosis of exclusion.[11] HG can be associated with serious problems in the mother or baby, such as Wernicke's encephalopathy, coagulopathy and peripheral neuropathy.[5]
Women experiencing hyperemesis gravidarum often are dehydrated and lose weight despite efforts to eat.[23][24] The onset of the nausea and vomiting in hyperemesis gravidarum is typically before the 20th week of pregnancy.[11]
### Differential diagnosis[edit]
Diagnoses to be ruled out include the following:[20]
Type Differential diagnoses
Infections
(usually accompanied by fever or associated neurological symptoms)
* Urinary tract infection
* Hepatitis
* Meningitis
* Gastroenteritis
Gastrointestinal disorders
(usually accompanied by abdominal pain)
* Appendicitis
* Cholecystitis
* Pancreatitis
* Fatty liver
* Peptic ulcer
* Small bowel obstruction
Metabolic
* Thyrotoxicosis (common in Asian subcontinent)[5]
* Addison's disease
* Diabetic ketoacidosis
* Hyperparathyroidism
Drugs
* Antibiotics
* Iron supplements
Gestational trophoblastic diseases (rule out with urine β-hCG)
* Molar pregnancy
* Choriocarcinoma
### Investigations[edit]
Common investigations include blood urea nitrogen (BUN) and electrolytes, liver function tests, urinalysis,[24] and thyroid function tests. Hematological investigations include hematocrit levels, which are usually raised in HG.[24] An ultrasound scan may be needed to know gestational status and to exclude molar or partial molar pregnancy.[25]
## Management[edit]
Dry bland food and oral rehydration are first-line treatments.[26] Due to the potential for severe dehydration and other complications, HG is treated as an emergency. If conservative dietary measures fail, more extensive treatment such as the use of antiemetic medications and intravenous rehydration may be required. If oral nutrition is insufficient, intravenous nutritional support may be needed.[12] For women who require hospital admission, thromboembolic stockings or low-molecular-weight heparin may be used as measures to prevent the formation of a blood clot.[20]
### Intravenous fluids[edit]
Intravenous (IV) hydration often includes supplementation of electrolytes as persistent vomiting frequently leads to a deficiency. Likewise, supplementation for lost thiamine (Vitamin B1) must be considered to reduce the risk of Wernicke's encephalopathy.[27] A and B vitamins are depleted within two weeks, so extended malnutrition indicates a need for evaluation and supplementation. In addition, electrolyte levels should be monitored and supplemented; of particular concern are sodium and potassium.
After IV rehydration is completed, patients typically begin to tolerate frequent small liquid or bland meals. After rehydration, treatment focuses on managing symptoms to allow normal intake of food. However, cycles of hydration and dehydration can occur, making continuing care necessary. Home care is available in the form of a peripherally-inserted central catheter (PICC) line for hydration and nutrition.[28] Home treatment is often less expensive and reduces the risk for a hospital-acquired infection compared with long-term or repeated hospitalizations.
### Medications[edit]
A number of antiemetics are effective and safe in pregnancy including: pyridoxine/doxylamine, antihistamines (such as diphenhydramine), and phenothiazines (such as promethazine).[29] With respect to effectiveness, it is unknown if one is superior to another for relieving nausea or vomiting.[29] Limited evidence from published clinical trials suggests the use of medications to treat hyperemesis gravidarum.[30]
While pyridoxine/doxylamine, a combination of vitamin B6 and doxylamine, is effective in nausea and vomiting of pregnancy,[31] some have questioned its effectiveness in HG.[32]
Ondansetron may be beneficial, however, there are some concerns regarding an association with cleft palate,[33] and there is little high-quality data.[29] Metoclopramide is also used and relatively well tolerated.[34] Evidence for the use of corticosteroids is weak; there is some evidence that corticosteroid use in pregnant women may slightly increase the risk of cleft lip and cleft palate in the infant and may suppress fetal adrenal activity.[11][35] However, hydrocortisone and prednisolone are inactivated in the placenta and may be used in the treatment of hyperemesis gravidarum after 12 weeks.[11]
### Nutritional support[edit]
Women not responding to IV rehydration and medication may require nutritional support. Patients might receive parenteral nutrition (intravenous feeding via a PICC line) or enteral nutrition (via a nasogastric tube or a nasojejunal tube). There is only limited evidence from trials to support the use of vitamin B6 to improve outcome.[30] An oversupply of nutrition ( hyperalimentation) may be necessary in certain cases to help maintain volume requirements and allow weight gain.[25] A physician might also prescribe Vitamin B1 (to prevent Wernicke's encephalopathy) and folic acid.[20]
### Alternative medicine[edit]
Acupuncture (both with P6 and traditional method) has been found to be ineffective.[30] The use of ginger products may be helpful, but evidence of effectiveness is limited and inconsistent, though three recent studies support ginger over placebo.[30]
While generally considered harmful, medical cannabis has been reported to be used in self-medication to treat pregnancy-associated hyperemesis.[36]
## Complications[edit]
### Pregnant woman[edit]
If HG is inadequately treated, anemia,[11] hyponatremia,[11] Wernicke's encephalopathy,[11] kidney failure, central pontine myelinolysis, coagulopathy, atrophy, Mallory-Weiss tears,[11] hypoglycemia, jaundice, malnutrition, pneumomediastinum, rhabdomyolysis, deconditioning, deep vein thrombosis, pulmonary embolism, splenic avulsion, or vasospasms of cerebral arteries are possible consequences. Depression and post-traumatic stress disorder[37] are common secondary complications of HG and emotional support can be beneficial.[11]
### Infant[edit]
The effects of HG on the fetus are mainly due to electrolyte imbalances caused by HG in the mother.[20] Infants of women with severe hyperemesis who gain less than 7 kilograms (15 lb) during pregnancy tend to be of lower birth weight, small for gestational age, and born before 37 weeks gestation.[12] In contrast, infants of women with hyperemesis who have a pregnancy weight gain of more than 7 kilograms appear similar to infants from uncomplicated pregnancies.[38] There is no significant difference in the neonatal death rate in infants born to mothers with HG compared to infants born to mothers who do not have HG.[11] Children born to mothers with undertreated HG have a fourfold increase in neurobehavioral diagnoses.[39]
## Epidemiology[edit]
Vomiting is a common condition affecting about 50% of pregnant women, with another 25% having nausea.[40] However, the incidence of HG is only 0.3–1.5%.[5] After preterm labor, hyperemesis gravidarum is the second most common reason for hospital admission during the first half of pregnancy.[11] Factors, such as infection with Helicobacter pylori, a rise in thyroid hormone production, low age, low body mass index prior to pregnancy, multiple pregnancies, molar pregnancies, and a past history of hyperemesis gravidarum have been associated with the development of HG.[11]
## History[edit]
Thalidomide was prescribed for treatment of HG in Europe until it was recognized that thalidomide is teratogenic and is a cause of phocomelia in neonates.[41]
### Etymology[edit]
Hyperemesis gravidarum is from the Greek hyper-, meaning excessive, and emesis, meaning vomiting, and the Latin gravidarum, the feminine genitive plural form of an adjective, here used as a noun, meaning "pregnant [woman]". Therefore, hyperemesis gravidarum means "excessive vomiting of pregnant women".
## Notable cases[edit]
Author Charlotte Brontë is often thought to have suffered from hyperemesis gravidarum. She died in 1855 while four months pregnant, having been afflicted by intractable nausea and vomiting throughout her pregnancy, and was unable to tolerate food or even water.[42]
Catherine, Duchess of Cambridge was hospitalised due to hyperemesis gravidarum during her first pregnancy, and was treated for a similar condition during the subsequent two.[43][44]
Comedienne Amy Schumer cancelled the remainder of a tour due to hyperemesis gravidarum.[45]
## References[edit]
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2. ^ a b c d e f g "Pregnancy". Office on Women's Health. September 27, 2010. Archived from the original on 10 December 2015. Retrieved 5 December 2015.
3. ^ a b c d e f g h i j k l Jueckstock, JK; Kaestner, R; Mylonas, I (15 July 2010). "Managing hyperemesis gravidarum: a multimodal challenge". BMC Medicine. 8: 46. doi:10.1186/1741-7015-8-46. PMC 2913953. PMID 20633258.
4. ^ a b c Ferri, Fred F. (2012). Ferri's clinical advisor 2013 5 books in 1 (1st ed.). Elsevier Mosby. p. 538. ISBN 9780323083737.
5. ^ a b c d e f g h i j Sheehan, P (September 2007). "Hyperemesis gravidarum—assessment and management" (PDF). Australian Family Physician. 36 (9): 698–701. PMID 17885701. Archived (PDF) from the original on 2014-06-06.
6. ^ a b Goodwin, TM (September 2008). "Hyperemesis gravidarum". Obstetrics and Gynecology Clinics of North America. 35 (3): 401–17, viii. doi:10.1016/j.ogc.2008.04.002. PMID 18760227.
7. ^ a b Gabbe, Steven G. (2012). Obstetrics : normal and problem pregnancies (6th ed.). Elsevier/Saunders. p. 117. ISBN 9781437719352.
8. ^ Davis, Christopher J. (1986). Nausea and Vomiting : Mechanisms and Treatment. Springer. p. 152. ISBN 9783642704796.
9. ^ Kumar, Geeta (2011). Early Pregnancy Issues for the MRCOG and Beyond. Cambridge University Press. p. Chapter 6. ISBN 9781107717992.
10. ^ DeLegge, Mark H. (2007). Handbook of home nutrition support. Sudbury, Mass.: Jones and Bartlett. p. 320. ISBN 9780763747695.
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13. ^ Matthews DC, Syed AA (2011). "The role of TSH receptor antibodies in the management of Graves' disease". European Journal of Internal Medicine. 22 (3): 213–6. doi:10.1016/j.ejim.2011.02.006. PMID 21570635.
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16. ^ Zhang Y, Cantor RM, MacGibbon K, Romero R, Goodwin TM, Mullin PM, Fejzo MS (2011). "Familial aggregation of hyperemesis gravidarum". American Journal of Obstetrics and Gynecology. 204 (3): 230.e1–7. doi:10.1016/j.ajog.2010.09.018. PMC 3030697. PMID 20974461.
17. ^ Cole, LA (August 2010). "Biological functions of hCG and hCG-related molecules". Reproductive Biology and Endocrinology. 8 (102): 102. doi:10.1186/1477-7827-8-102. PMC 2936313. PMID 20735820.
18. ^ Hershman JM (June 2004). "Physiological and pathological aspects of the effect of human chorionic gonadotropin on the thyroid". Best Pract. Res. Clin. Endocrinol. Metab. 18 (2): 249–65. doi:10.1016/j.beem.2004.03.010. PMID 15157839.
19. ^ Aka N, Atalay S, Sayharman S, Kiliç D, Köse G, Küçüközkan T (2006). "Leptin and leptin receptor levels in pregnant women with hyperemesis gravidarum". The Australian & New Zealand Journal of Obstetrics & Gynaecology. 46 (4): 274–7. doi:10.1111/j.1479-828X.2006.00590.x. PMID 16866785. S2CID 72562308.
20. ^ a b c d e Bourne, Thomas H.; Condous, George, eds. (2006). Handbook of early pregnancy care. Informa Healthcare. pp. 149–154. ISBN 9781842143230.
21. ^ Verberg, MF; Gillott, DJ; Al-Fardan, N; Grudzinskas, JG (September–October 2005). "Hyperemesis gravidarum, a literature review". Human Reproduction Update. 11 (5): 527–539. doi:10.1093/humupd/dmi021. PMID 16006438.
22. ^ Bagis, T; Gumurdulu, Y; Kayaselcuk, F; Yilmaz, ES; Killicadag, E; Tarim, E (November 2002). "Endoscopy in hyperemesis gravidarum and Helicobacter pylori infection". International Journal of Gynaecology and Obstetrics. 79 (2): 105–9. doi:10.1016/s0020-7292(02)00230-8. PMID 12427393. S2CID 36603396.
23. ^ "Hyperemesis Gravidarum (Severe Nausea and Vomiting During Pregnancy)". Cleveland Clinic. 2012. Archived from the original on 15 December 2012. Retrieved 23 January 2013.
24. ^ a b c Medline Plus (2012). "Hyperemesis gravidarum". National Institutes of Health. Archived from the original on 27 January 2013. Retrieved 30 January 2013.
25. ^ a b Evans, Arthur T., ed. (2007). Manual of obstetrics (7th ed.). Wolters Kluwer / Lippincott Williams & Wilkins. pp. 265–8. ISBN 9780781796965. Archived from the original on 2017-09-11.
26. ^ Office on Women's Health (2010). "Pregnancy Complications". U.S. Department of Health and Human Services. Archived from the original on 29 October 2013. Retrieved 27 October 2013.
27. ^ British National Formulary (March 2003). "4.6 Drugs used in nausea and vertigo – Vomiting of pregnancy". BNF (45 ed.).
28. ^ Tuot, D; Gibson, S; Caughey, AB; Frassetto, LA (March 2010). "Intradialytic hyperalimentation as adjuvant support in pregnant hemodialysis patients: case report and review of the literature". International Urology and Nephrology. 42 (1): 233–7. doi:10.1007/s11255-009-9671-5. PMC 2844957. PMID 19911296.
29. ^ a b c Jarvis, S; Nelson-Piercy, C (June 2011). "Management of nausea and vomiting in pregnancy". BMJ (Clinical Research Ed.). 342: d3606. doi:10.1136/bmj.d3606. PMID 21685438. S2CID 32242306.
30. ^ a b c d Matthews, Anne; Haas, David M.; O'Mathúna, Dónal P.; Dowswell, Therese (2015-09-08). "Interventions for nausea and vomiting in early pregnancy". The Cochrane Database of Systematic Reviews (9): CD007575. doi:10.1002/14651858.CD007575.pub4. ISSN 1469-493X. PMC 4004939. PMID 26348534.
31. ^ Tan, PC; Omar, SZ (April 2011). "Contemporary approaches to hyperemesis during pregnancy". Current Opinion in Obstetrics and Gynecology. 23 (2): 87–93. doi:10.1097/GCO.0b013e328342d208. PMID 21297474. S2CID 11743580.
32. ^ Tamay, AG; Kuşçu, NK (November 2011). "Hyperemesis gravidarum: current aspect". Journal of Obstetrics and Gynaecology. 31 (8): 708–12. doi:10.3109/01443615.2011.611918. PMID 22085059. S2CID 20818005.
33. ^ Koren, G (October 2012). "Motherisk update. Is ondansetron safe for use during pregnancy?". Canadian Family Physician. 58 (10): 1092–3. PMC 3470505. PMID 23064917.
34. ^ Tan, PC; Omar, SZ (April 2011). "Contemporary approaches to hyperemesis during pregnancy". Current Opinion in Obstetrics and Gynecology. 23 (2): 87–93. doi:10.1097/GCO.0b013e328342d208. PMID 21297474. S2CID 11743580.
35. ^ Poon, SL (October 2011). "Towards evidence-based emergency medicine: Best BETs from the Manchester Royal Infirmary. BET 2: Steroid therapy in the treatment of intractable hyperemesis gravidarum". Emergency Medicine Journal. 28 (10): 898–900. doi:10.1136/emermed-2011-200636. PMID 21918097. S2CID 6667779.
36. ^ Jaques, S; Kingsbury, A; Henshcke, P (January 2014). "Cannabis, the pregnant woman and her child: weeding out the myths". Journal of Perinatology. 34 (6): 417–424. doi:10.1038/jp.2013.180. PMID 24457255. S2CID 28771505.
37. ^ Christodoulou-Smith J, Gold JI, Romero R, Goodwin TM, Macgibbon KW, Mullin PM, Fejzo MS (2011). "Posttraumatic stress symptoms following pregnancy complicated by hyperemesis gravidarum". The Journal of Maternal-Fetal and Neonatal Medicine. 24 (11): 1307–11. doi:10.3109/14767058.2011.582904. PMC 3514078. PMID 21635201.
38. ^ Dodds L, Fell DB, Joseph KS, Allen VM, Butler B (2006). "Outcomes of pregnancies complicated by hyperemesis gravidarum". Obstet. Gynecol. 107 (2 Pt 1): 285–92. doi:10.1097/01.AOG.0000195060.22832.cd. PMID 16449113. S2CID 29255084.
39. ^ Fejzo MS, Magtira A, Schoenberg FP, Macgibbon K, Mullin PM (June 2015). "Neurodevelopmental delay in children exposed in utero to hyperemesis gravidarum" (PDF). Eur J Obstet Gynecol Reprod Biol. 189: 79–84. doi:10.1016/j.ejogrb.2015.03.028. PMID 25898368. Archived (PDF) from the original on 2016-03-04.
40. ^ Niebyl, Jennifer R. (2010). "Nausea and Vomiting in Pregnancy". New England Journal of Medicine. 363 (16): 1544–50. doi:10.1056/NEJMcp1003896. PMID 20942670. S2CID 205068587.
41. ^ Cohen, Wayne R., ed. (2000). Cherry and Merkatz's complications of pregnancy (5th ed.). Lippincott Williams & Wilkins. p. 124. ISBN 9780683016734.
42. ^ McSweeny, Linda (2010-06-03). "What is acute morning sickness?". The Age. Archived from the original on 2012-12-06. Retrieved 2012-12-04.
43. ^ "Prince William, Kate expecting 2nd child". 8 September 2014. Archived from the original on 8 September 2014. Retrieved 8 September 2014.
44. ^ Kensington Palace (2017-09-04). "Read the press release in full ↓pic.twitter.com/vDTgGD2aGF". @KensingtonRoyal. Archived from the original on 2017-09-04. Retrieved 2017-09-04.
45. ^ Kieran Southern (23 Feb 2019). "Amy Schumer cancels US tour due to complications from hyperemesis in third trimester of pregnancy". Retrieved 24 Feb 2019.
## External links[edit]
Classification
D
* ICD-10: O21.1
* ICD-9-CM: 643.1
* MeSH: D006939
External resources
* MedlinePlus: 001499
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hyperemesis gravidarum | c0020450 | 28,473 | wikipedia | https://en.wikipedia.org/wiki/Hyperemesis_gravidarum | 2021-01-18T18:48:11 | {"mesh": ["D006939"], "umls": ["C0020450"], "icd-9": ["643"], "icd-10": ["O21.1"], "wikidata": ["Q391556"]} |
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dermatoleukodystrophy | c1857314 | 28,474 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1659 | 2021-01-23T16:52:33 | {"gard": ["1813"], "mesh": ["C538220"], "omim": ["221790"], "umls": ["C1857314"], "icd-10": ["E75.2"], "synonyms": ["Cutis laxa-leukodystrophy"]} |
Hereditary diffuse leukoencephalopathy with spheroids (HDLS)
Other namesAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
Hereditary diffuse leukoencephalopathy with spheroids is inherited in an autosomal dominant manner
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant disorder characterized by cerebral white matter degeneration with demyelination and axonal spheroids leading to progressive cognitive and motor dysfunction. Spheroids are axonal swellings with discontinuous or absence of myelin sheaths. It is believed that the disease arises from primary microglial dysfunction that leads to secondary disruption of axonal integrity, neuroaxonal damage, and focal axonal spheroids leading to demyelination. Spheroids in HDLS resemble to some extent those produced by shear stress in a closed head injury with damage to axons, causing them to swell due to blockage of axoplasmic transport. In addition to trauma, axonal spheroids can be found in aged brain, stroke, and in other degenerative diseases.[1] In HDLS, it is uncertain whether demyelination occurs prior to the axonal spheroids or what triggers neurodegeneration after apparently normal brain and white matter development, although genetic deficits suggest that demyelination and axonal pathology may be secondary to microglial dysfunction.[2] The clinical syndrome in patients with HDLS is not specific and it can be mistaken for Alzheimer's disease, frontotemporal dementia, atypical Parkinsonism, multiple sclerosis, or corticobasal degeneration.[3]
## Contents
* 1 Symptoms
* 1.1 Neuropsychiatric symptoms
* 1.2 Motor impairment
* 2 Causes
* 3 Pathology
* 4 Diagnosis
* 4.1 Differential diagnosis
* 4.2 Clinical and genealogic studies
* 4.3 Neuroimaging
* 4.4 Pathology
* 4.5 Classification
* 5 Management
* 6 Epidemiology
* 7 History
* 8 See also
* 9 References
* 10 External links
## Symptoms[edit]
With symptoms of personality changes, behavioral changes, dementia, depression, and epilepsy, HDLS has been commonly misdiagnosed for a number of other diseases.[4] Dementia or frontotemporal behavioral changes, for example, have commonly steered some clinicians to mistakenly consider diagnoses such as Alzheimer’s disease, frontotemporal dementia or atypical Parkinsonism. The presence of white matter changes has led to misdiagnosis of multiple sclerosis. HDLS commonly manifests with neuropsychiatric symptoms, progressing to dementia, and after a few years shows motor dysfunction. Eventually patients become wheelchair-bound or bedridden.[3]
White matter degeneration is associated with and makes differential diagnoses out of other adult onset leukodystrophies such as metachromatic leukodystrophy (MLD), Krabbe disease (globoid cell leukodystrophy), and X-linked adrenoleukodystrophy (X-ADL).[2]
Disease Exclusive Trait
MLD Accumulation of metachromatic material in white matter
Krabbe Disease Presence of globoid cells derived from microglia which have multiple nuclei
X-ALD Predominant parieto-occipital white matter abnormality
Vanishing White Matter (VWM) Disease
* Increased white matter rarefaction
* Cystic degeneration
* Sparse dysmorphic astrocytes
* Scanty astogliosis
* Increased macroglia around cavity regions and lesser areas
* Foamy oligodendrocytosis
Nasu-Hakola
* Pain and tenderness of ankles/feet/wrist
* Cystic bone lesions noticeable on radiological films
[2]
### Neuropsychiatric symptoms[edit]
Many neuropsychiatric symptoms have been identified in clinical studies of HDLS patients. These include severe depression and anxiety that have been identified in about 70% of HDLS families, verging on suicidal tendencies and substance abuse such as alcoholism. Additionally, patients may exhibit disorientation, confusion, agitation, irritability, aggressiveness, an altered mental state, the loss of the ability to execute learned movements (apraxia), or the inability to speak (mutism).[3]
### Motor impairment[edit]
Persons with HDLS can suffer from tremors, decreased body movement, unsteadiness (Parkinsonism, muscles on one side of the body in constant contraction (spastic hemiparesis), impairment in motor and sensory function in the lower extremities (paraparesis), paralysis resulting in partial or total loss of all extremities and torso (tetraparesis), and the lack of voluntary coordination of muscle movements (ataxia).[3]
## Causes[edit]
The cause of HDLS in most families is mutation in the colony stimulating factor 1 receptor (CSF1R), a growth factor for microglia and monocyte/macrophages, suggesting that microglial dysfunction may be primary in HDLS.[4]
The mutations are concentrated in tyrosine kinase domain (TKD) of the protein. Mutations were mainly found in exons 12-22 of the intracellular TKD, including 10 missense mutations that have a single nucleotide deletion and a single codon deletion that consists of a triplet of nucleotides that have been removed causing a whole amino acid to not be coded. Additionally, three splice site mutations were identified that caused an in-frame deletion of an exon, an expressed nucleotide sequence, leading to the removal of more than 40 amino acids in the TKD.[4]
This determination has based upon genetic studies of 14 HDLS families confirming mutations in this gene. The CSF1 receptor protein primarily functions in regulation, survival, proliferation, and differentiation of microglial cells.[5] The mechanism of microglial dysfunction due to mutations in CSF1R to the myelin loss and axonal spheroid formation remains unknown. Further research is needed to better understand disease pathogenesis.
## Pathology[edit]
An axial CT scan of a patient presenting a leukoencephalopathy, the base disorder to the family of disorders that HDLS falls under.
In HDLS, there is enlargement of the lateral ventricles and marked thinning or weakening of cerebral white matter.[6] The loss of white matter is caused by myelin loss. These changes are associated with diffuse gliosis, moderate loss of axons and many axonal spheroids.[1]
Activated or ameboid microglia and macrophages that contain myelin debris, lipid droplets and brown autofluorescent pigment granules are found in the areas with demyelination and axonal spheroids. In severely degenerated areas there are many large, reactive astrocytes filled with glial fibrils.[1]
In autopsy cases, it has been shown that white matter abnormalities are relatively confined to the cerebrum while avoiding the cerebellum and many of the major fiber tracts of the nervous system. The exception is the corticospinal tracts(pyramidal tracts) in the brainstem and sometimes spinal cord.[2]
The brain pathology of HDLS resembles that of Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy).[7]
## Diagnosis[edit]
Research as of 2012 includes investigations of microglial function. This work would further clarify whether the disease is primarily a defect in microglia function. For such a study, microglial cells from HDLS kindred can be cultured from autopsy brain and analyzed in comparison to normal microglial cells on the basis of differences in mutation occurrences and growth factor expression.[5]
### Differential diagnosis[edit]
Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD).[3] In addition to white matter disease, Nasu-Hakola causes bone cysts. It is caused by mutations in the genes involved in the same colony stimulating factor (CSF) signaling pathway cascade as identified in HDLS.[8]
Nasu-Hakola disease appears to be caused by mutations in the TYRO protein tyrosine kinase-binding protein (TYROBP \- also known as DAP12) or the triggering receptor expressed on myeloid cells 2 (TREM2) protein. While different gene mutations occur within the pathway for Nasu-Hakola and HDLS, both are characterized by white matter degeneration with axonal spheroids. Current researchers in the field believe that more in depth analysis and comparison of the two genetic abnormalities in these disorders could lead to a better understanding of the disease mechanisms in these rare disorders. POLD exhibits noninflammatory demyelination of axons with initial symptoms of euphoria, apathy, headache, and executive dysfunction. While HDLS is autosomal dominant, some families with POLD have features that suggest autosomal recessive inheritance.[9] Nevertheless, POLD has recently been shown to have the same genetic basis as HDLS.
### Clinical and genealogic studies[edit]
To gain a better understanding of the disease, researchers have retrospectively reviewed medical records of probands and others who were assessed through clinical examinations or questionnaires. Blood samples are collected from the families of the probands for genetic testing. These family members are assessed using their standard medical history, on their progression of Parkinson's like symptoms (Unified Parkinson's Disease Rating Scale), and on their progression of cognitive impairment such as dementia (Folstein Test).[2]
### Neuroimaging[edit]
Standard MRI scans have been performed on 1.5 Tesla scanners with 5 mm thickness and 5 mm spacing to screen for white matter lesions in identified families. If signal intensities of the MRI scans are higher in white matter regions than in grey matter regions, the patient is considered to be at risk for HDLS, although a number of other disorders can also produce white matter changes and the findings are not diagnostic without genetic testing or pathologic confirmation.[2]
### Pathology[edit]
Tissue sections from brain biopsies or autopsy brains are commonly embedded in paraffin from which sections are cut an mounted on glass slides for histologic studies. Special stains for myelin and axonal pathology show the abnormal changes that are characteristic of HDLS are identified in white matter of the neocortex, basal ganglia, thalamus, midbrain, pons and spinal cord.[2][10] In addition to routine histologic methods (H&E staining), samples are evaluated with immunohistochemistry for ubiquitin, amyloid precursor protein, and neurofilament to characterize axonal changes and myelin basic protein for myelin pathology. Immunohistochemical stains for microglia (CD68 or HLA-DR) and astrocytes (GFAP) are also helpful techniques to characterize white matter pathology.[6] With a similar pathology to POLD, HDLS is commonly grouped as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) so as to give these individually under-recognized conditions heightened attention.[3]
### Classification[edit]
HDLS falls under the category of brain white matter diseases called leukoencephalopathies that are characterized by some degree of white matter dysfunction. HDLS has white matter lesions with abnormalities in myelin sheath around axons, where the causative influences are being continually explored based upon recent genetic findings. Studies by Sundal and colleagues from Sweden showed that a risk allele in Caucasians may be causative because cases identified have thus far been among large Caucasian families.[2]
## Management[edit]
This section is empty. You can help by adding to it. (October 2017)
## Epidemiology[edit]
An average clinical profile from published studies shows that the median onset age for HDLS patients is 44.3 years with a mean disease duration of 5.8 years and mean age of death at 53.2 years.[2][11] As of 2012, there have been around 15 cases identified with at least 11 sporadic cases of HDLS.[2][11] HDLS cases have been located in Germany, Norway, Sweden, and the United States, showing an international distribution focusing between Northern Europe and the United States.[2]
Through the study of numerous kindred, it was found that the disease did not occur among just males or females, but rather was evenly distributed indicative of an autosomal rather than a sex-linked genetic disorder. It was also observed that the HDLS cases did not skip generations as it would occur with a recessive inheritance, and as such has been labeled autosomal dominant.[2]
## History[edit]
This disease was first described in 1984 by Axelsson et al. in a large Swedish pedigree.[12] It is a disorder better known to neuropathologists than clinicians. A neuropathologist with an interest in HDLS, Dr. Dennis W. Dickson, has identified a number of cases from neuropathology study of brains submitted for investigation of familial adult-onset dementia and movement disorders in New York and later in Florida. Recognition of the importance of this disorder as a cause of adult onset dementia and movement disorders was further heightened in 1997 at the Mayo Clinic when Dr. Zbigniew K. Wszolek identified a family with HDLS that was initially thought to be due to another disease process (FTDP-17), but only an autopsy of one and then other family members revealed it to be HDLS. Wszolek established an international consortium in 2005 to identify other families and to collect DNA or brain samples from family members for neuropathologic confirmation and genetic research at the Mayo Clinic in Florida.[2]
## See also[edit]
* Neurodegeneration
* Leukoencephalopathy with vanishing white matter
* Microcephaly
## References[edit]
1. ^ a b c Lin, W. L., Wszolek, Z. K., & Dickson, D. W. (2010). Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. Int J Clin Exp Pathol, 3(7), 665-674.
2. ^ a b c d e f g h i j k l m Sundal, C., Lash, J., Aasly, J., Oygarden, S., Roeber, S., Kretzschman, H., . . . Wszolek, Z. K. (2012). Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci, 314(1-2), 130-137. doi:10.1016/j.jns.2011.10.006
3. ^ a b c d e f Wider, C., Van Gerpen, J. A., DeArmond, S., Shuster, E. A., Dickson, D. W., & Wszolek, Z. K. (2009). Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology, 72(22), 1953–1959. doi:10.1212/WNL.0b013e3181a826c0
4. ^ a b c Rademakers, R., Baker, M., Nicholson, A., Rutherford, N., Finch, N., Soto-Ortolaza, A., . . . Wszolek, Z. (2012). Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids. Movement Disorders, 27, S399-S400.
5. ^ a b Kinoshita, M., Yoshida, K., Oyanagi, K., Hashimoto, T., & Ikeda, S. (2012). Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report. Journal of the Neurological Sciences, 318(1-2), 115-118. doi:10.1016/j.jns.2012.03.012
6. ^ a b Baba, Y., Ghetti, B., Baker, M. C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., . . . Wszolek, Z. K. (2006). Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol, 111(4), 300-311. doi:10.1007/s00401-006-0046-z
7. ^ Hancock, N., Poon, M., Taylor, B., & McLean, C. (2003). Hereditary diffuse leucoencephalopathy with spheroids. J Neurol Neurosurg Psychiatry, 74(9), 1345–1347.
8. ^ Paloneva, J., Mandelin, J., Kiialainen, A., Böhling, T., Prudlo, J., Hakola, P., . . . Peltonen, L. (2003). DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. The Journal of experimental medicine, 198(4), 669-675.
9. ^ Knaap, Marjo S., & Valk, Jaap. (2005). Pigmentary Orthochromatic Leukodystrophy Magnetic Resonance of Myelination and Myelin Disorders (pp. 557-558): Springer Berlin Heidelberg.
10. ^ Van Gerpen, J. A., Wider, C., Broderick, D. F., Dickson, D. W., Brown, L. A., & Wszolek, Z. K. (2008). Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology, 71(12), 925-929. doi: 10.1212/01.wnl.0000325916.30701.21
11. ^ a b Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., . . . Wszolek, Z. K. (2012). MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology, 79(6), 566-574. doi:10.1212/WNL.0b013e318263575a
12. ^ Axelsson, R., Roytta, M., Sourander, P., Akesson, H. O., & Andersen, O. (1984). Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl, 314, 1-65.
## External links[edit]
Classification
D
* ICD-10: E75.2
* OMIM: 221820 164770
* MeSH: C580150
External resources
* Orphanet: 313808
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hereditary diffuse leukoencephalopathy with spheroids | c3711381 | 28,475 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_diffuse_leukoencephalopathy_with_spheroids | 2021-01-18T18:36:16 | {"gard": ["10981"], "mesh": ["C580150"], "umls": ["C3711381", "C1857300"], "orphanet": ["313808"], "wikidata": ["Q5737835"]} |
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Trigonocephaly-short stature-developmental delay syndrome | c1839125 | 28,476 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3369 | 2021-01-23T17:31:42 | {"gard": ["243"], "mesh": ["C536620"], "omim": ["314320"], "umls": ["C1839125"], "icd-10": ["Q87.0"], "synonyms": ["Say-Meyer syndrome"]} |
Hypernasality
Other namesHyperrhinolalia, open nasality, rhinolalia aperta
Nasal and oral cavities with the velopharyngeal sphincter highlighted in blue
Hypernasal speech is a disorder that causes abnormal resonance in a human's voice due to increased airflow through the nose during speech. It is caused by an open nasal cavity resulting from an incomplete closure of the soft palate and/or velopharyngeal sphincter.[citation needed] In normal speech, nasality is referred to as nasalization and is a linguistic category that can apply to vowels or consonants in a specific language. The primary underlying physical variable determining the degree of nasality in normal speech is the opening and closing of a velopharyngeal passageway between the oral vocal tract and the nasal vocal tract. In the normal vocal tract anatomy, this opening is controlled by lowering and raising the velum or soft palate, to open or close, respectively, the velopharyngeal passageway.
## Contents
* 1 Anatomy
* 2 Causes
* 3 Diagnosis
* 3.1 Effects on language
* 4 Treatment
* 4.1 Speech therapy
* 4.1.1 Exercises
* 4.1.2 CPAP
* 4.2 Surgery
* 4.2.1 Posterior pharyngeal flap
* 4.2.2 Sphincter pharyngoplasty
* 4.2.3 Complications
* 5 See also
* 6 References
* 7 External links
## Anatomy[edit]
The palate comprises two parts, the hard palate (palatum durum) and the soft palate (palatum molle), which is connected to the uvula. The movements of the soft palate and the uvula are made possible by the velopharyngeal sphincter.[clarification needed] During speech or swallowing, the soft palate lifts against the back throat wall to close the nasal cavity. When producing nasal consonants (such as "m", "n", and "ng"), the soft palate remains relaxed, thereby enabling the air to go through the nose.
The Eustachian tube, which opens near the velopharyngeal sphincter, connects the middle ear and nasal pharynx. Normally, the tube ensures aeration and drainage (of secretions) of the middle ear. Narrow and closed at rest, it opens during swallowing and yawning, controlled by the tensor veli palatini and the levator veli palatini (muscles of the soft palate). Children with a cleft palate have difficulties controlling these muscles and thus are unable to open the Eustachian tube. Secretions accumulate in the middle ear when the tube remains dysfunctional over a long period of time, which cause hearing loss and middle ear infections. Ultimately, hearing loss can lead to impaired speech and language development.[1][2]
## Causes[edit]
Incomplete cleft palate
The general term for disorders of the velopharyngeal valve is velopharyngeal dysfunction (VPD). It includes three subterms: velopharyngeal insufficiency, velopharyngeal inadequacy, and velopharyngeal mislearning.
* Velopharyngeal insufficiency can be caused by an anatomical abnormality of the throat. It occurs in children with a history of cleft palate or submucous cleft, who have short or otherwise abnormal vela. Velopharyngeal insufficiency can also occur after adenoidectomy.
* Velopharyngeal incompetence is a defective closure of the velopharyngeal valve due to its lack of speed and precision. It is caused by a neurologic disorder or injury (e.g. cerebral palsy or traumatic brain injury).
* Sometimes children present no abnormalities yet still have hypernasal speech: this can be due to velopharyngeal mislearning, indicating that the child has been imitating[clarification needed] or has never learned how to use the valve correctly.[3][4]
## Diagnosis[edit]
There are several methods for diagnosing hypernasality.
* A speech therapist listens to and records the child while analysing perceptual speech.[5] In hypernasality, the child cannot produce oral sounds (vowels and consonants) correctly. Only the nasal sounds can be correctly produced.[6] A hearing test is also desirable.[7]
* A mirror is held beneath the nose while the child pronounces the vowels. Nasal air escape, and thus hypernasality, is indicated if the mirror fogs up.
* A pressure-flow technique is used to measure velopharyngeal orifice area during the speech. The patient must be at least three to four years old.
* A video nasopharyngeal endoscopy observes velopharyngeal function, movements of the soft palate, and pharyngeal walls. It utilises a very small scope placed in the back of the nasal cavity. The doctor will then ask the child to say a few words. The patient must be at least three to four years old to ensure cooperation.
* A cinefluoroscopy gives dynamic visualisation and can easier be applied to younger children, though it has the disadvantage of exposing the patient to radiation.[8]
* A nasometer calculates the ratio of nasality. The patient wears a headset, where the oral and nasal cavities are separated by a plate.[clarification needed] On both sides of the plate are microphones. The ratio calculated by the nasometer indicates the amount of nasality, with a higher ratio indicating more nasality.[9]
### Effects on language[edit]
Hypernasality is generally segmented into so-called 'resonance' effects in vowels and some voiced or sonorant consonants and the effects of excess nasal airflow during those consonants requiring a buildup of oral air pressure, such as stop consonants (as /p/) or sibilants (as /s/). The latter nasal airflow problem is termed 'nasal emission',[10] and acts to prevent the buildup of air pressure and thus prevent the normal production of the consonant. In testing for resonance effects without the aid of technology, speech pathologists are asked to rate the speech by listening to a recorded sentence or paragraph, though there is much variability in such subjective ratings, for at least two reasons. First, the acoustic effect of a given velopharyngeal opening varies greatly depending on the degree of occlusion of the nasal passageways. (This is the reason why a stuffy nose from an allergy or cold will sound more nasal than when the nose is clear.) Secondly, for many persons with hypernasal speech, especially hearing impaired, there are also mispronunciations of the articulation of the vowels. It is extremely difficult to separate the acoustic effects of hypernasality from the acoustic effects of mispronounced vowels (examples). Of course, in speech training of the hearing impaired, there is little possibility of making nasality judgments aurally, and holding a finger to the side of the nose, to feel voice frequency vibration, is sometimes recommended.[11]
## Treatment[edit]
### Speech therapy[edit]
In cases of muscle weakness or cleft palate, special exercises can help to strengthen the soft palate muscles with the ultimate aim of decreasing airflow through the nose and thereby increasing intelligibility. Intelligibility requires the ability to close the nasal cavity, as all English sounds, except the nasal sounds "m" [m], "n" [n], and "ng" [ŋ], have airflow only through the mouth. Normally, by age three, a child can raise the muscles of the soft palate to close to nasal cavity.
Without the use of a technological aid, nasal emission is sometimes judged by listening for any turbulence that may be produced by the nasal airflow, as when there is a small velopharyngeal opening and there is some degree of mucous in the opening. More directly, methods recommended include looking for the fogging of a mirror held near the nares or listening through a tube, the other end of which is held in or near a nares opening.[11]
There have been many attempts to use technological augmentation more than a mirror or tube to aid the speech pathologist or provide meaningful feedback to the person attempting to correct their hypernasality. Among the more successful of these attempts, the incompleteness of velopharyngeal closure during vowels and sonorants that causes nasal resonance can be estimated and displayed for evaluation or biofeedback in speech training through the nasalance of the voice, with nasalance defined as a ratio of acoustic energy at the nostrils to that at the mouth, with some form of acoustic separation present between the mouth and nose. In the nasalance measurement system sold by WEVOSYS, the acoustic separation is provided by a mask-tube system, nasalance measurement system sold by Kay-Pentax, the acoustic separation is provided by a solid flat partition held against the upper lip, while in the system sold by Glottal Enterprises the acoustic separation can be by either a solid flat partition or a two-chamber mask.[10][12]
However, devices for measuring nasalance do not measure nasal emission during pressure consonants. Because of this, a means for measuring the degree of velopharyngeal closure in consonants is also needed. A commercially available device for making such measurements is the Perci-Sar system from Microtronics. The Nasality Visualization System from Glottal Enterprises allows both the measurement of Nasal Emission and Nasalance. In the presence of a cleft palate, either of these systems can be helpful in evaluating the need for an appliance or surgical intervention to close the cleft or the success of an appliance or a surgical attempt to close the cleft.
#### Exercises[edit]
If a child finds it difficult to blow, pinching the nose can help regulate airflow. The child should then practice speech sounds without pinching the nose. These exercises only work as treatments if hypernasality is small. Severe deviations should be treated surgically.[13]
#### CPAP[edit]
There is insufficient evidence to support the use of traditional non-speech oral motor exercises can reduce hypernasality. Velopharyngeal closure patterns and their underlying neuromotor control may differ for speech and nonspeech activities. Therefore, the increase in velar movement through blowing, sucking, and swallowing may not transfer to speech tasks. Thus, hypernasality remains while individual speak. Kuehn proposed a new way of treatment by using a CPAP machine during speech tasks. The positive pressure provided by a CPAP machine provides resistance to strengthen velopharyngeal muscles. With nasal mask in place, an individual is asked to produce VNCV syllables and short sentences. It is believed that CPAP therapy can increase both muscle endurance as well as strength because it overloads the levator veli palatini muscle and involves a regimen with a large number of repetitions of velar elevation. Research findings proved that patients with hypernasality due to flaccid dysarthria, TBI or cleft palate do eliminate hypernasality after receiving this training program.[14][15][16][17][18]
### Surgery[edit]
The two main surgical techniques for correcting the aberrations the soft palate present in hypernasality are the posterior pharyngeal flap and the sphincter pharyngoplasty. After surgical interventions, speech therapy is necessary to learn how to control the newly constructed flaps.[19]
#### Posterior pharyngeal flap[edit]
See also: Pharyngeal flap surgery
Posterior pharyngeal flap surgery is mostly used for vertical clefts of the soft palate. The surgeon cuts through the upper layers of the back of the throat, creating a small square of tissue. This flap remains attached on one side (usually at the top). The other side is attached to (parts of) the soft palate. This ensures that the nasal cavity is partially separated from the oral cavity. When the child speaks, the remaining openings close from the side due to the narrowing of the throat caused by the muscle movements necessary for speech. In a relaxed state, the openings allow breathing through the nose.[19]
#### Sphincter pharyngoplasty[edit]
Sphincter pharyngoplasty is mostly used for horizontal clefts of the soft palate. Two small flaps are made on the left and right side of the entrance to the nasal cavity, attached to the back of the throat. For good results, the patient must have good palatal motion, as the occlusion of the nasal cavity is mainly carried out by muscles already existing and functioning.[19]
#### Complications[edit]
The most common complications of the posterior pharyngeal wall flap are hyponasality, nasal obstruction, snoring, and sleep apnea. Rarer complications include flap separation, sinusitis, postoperative bleeding, and aspiration pneumonia. Possible complications of the sphincter pharyngoplasty are snoring, nasal obstruction, difficulty blowing the nose.
Some researches suggest that sphincter pharyngoplasty introduces less hyponasality and obstructive sleep symptoms than the posterior pharyngeal wall flap. Both surgeries have a favourable effect on the function of the Eustachian tube.[4] [20][19][21]
## See also[edit]
* Rhinolalia clausa
* Nasalization
* Nasalance
## References[edit]
1. ^ "Specifieke informatie over schisis per type schisis" [Specific information on each type of cleft lip and palate cleft] (in Dutch). Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen. 2012. Retrieved 20 May 2012.
2. ^ Stegenga, B.; Vissink, A.; Bont, L.G.M. de (2000). Mondziekten en kaakchirurgie [Oral and Maxillofacial Surgery] (in Dutch). Assen: Van Gorcum. p. 388. ISBN 9789023235002.
3. ^ Kummer, Ann W. "Speech Therapy for Cleft Palate or Velopharyngeal Dysfunction (VPD)" (PDF). Cincinnati Children's Hospital Medical Center. Archived from the original (PDF) on 2012-04-05.
4. ^ a b Biavati, Michael J.; Sie, Kathleen; Wiet, Gregory J. (2 September 2011). "Velopharyngeal Insufficiency". Medscape Reference. WebMD LLC.
5. ^ Morgan Stanley Children's Hospital. "Otolaryngology (Ear, Nose and Throat)". Columbia University Medical Center.
6. ^ Gelder, van J. (1957). "De open neusspraak, pathogenese en diagnostiek". Nederlands Tijdschrift voor Geneeskunde [Netherlands Journal of Medicine] (in Dutch). 101: 1005–10.
7. ^ Department of Otolarynology/Head and Neck Surgery. "Hypernasality – Velopharyngeal Insufficiency". Columbia University Medical Center. Archived from the original on 2012-04-03.
8. ^ Probst, Rudolf; Grevers, Gerhard; Iro, Heinrich; Telger, Terry (translator); Baum, Karin (illustrator) (2006). Basic Otorhinolaryngology a step-by-step learning guide (revised ed.). Stuttgart: Thieme. p. 401. ISBN 9783131324412.
9. ^ KayPENTAX. "Nasometer II, Model 6450". PENTAX Medical Company.
10. ^ a b R.J. Baken, Robert F. Orlikoff. Clinical Measurement of Speech and Voice San Diego: Singular, 2000
11. ^ a b Kummer, A. W. Resonance disorders and nasal emission: Evaluation and treatment using "low tech" and "no tech" procedures. Archived 2009-01-18 at the Wayback Machine The ASHA Leader (2006 Feb 7) 11(2), pp. 4, 26.
12. ^ Watterson T, Lewis K, Brancamp T (Sep 2005). "Comparison of Nasalance scores obtained with the Nasometer 6200 and the Nasometer II 6400". Cleft Palate Craniofac J. 42 (5): 574–9. doi:10.1597/04-017.1. PMID 16149843.CS1 maint: multiple names: authors list (link)
13. ^ "Spraak en taal" [Speech and Language] (in Dutch). Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen.
14. ^ Kuehn D. P. "Continuous Positive Airway Pressure in the Treatment of Hypernasality" (PDF).
15. ^ Hartman L. D. "Critical Review: Continuous Positive Airway Pressure as a Treatment for Hypernasality" (PDF).
16. ^ Kuehn, D. P. (May 2002), "Efficacy of continuous positive airway pressure for treatment of hypernasality.", Cleft Palate-Craniofacial Journal, 39: 267–276, doi:10.1597/1545-1569_2002_039_0267_eocpap_2.0.co_2
17. ^ Freed, D. B. (2011). Motor Speech Disorders: Diagnosis & Treatment (2nd ed.). Delmar Cengage Learning. ISBN 978-1111138271.
18. ^ Kuehn, D. P. (Dec 1991), "New therapy for treating hypernasal speech using continuous positive airway pressure.", Plastic and Reconstructive Surgery, 88: 959–966, doi:10.1097/00006534-199112000-00003
19. ^ a b c d de Serres, Lianne M.; Deleyiannis, Frederic W.-B.; Eblen, Linda E.; Gruss, Joseph S.; Richardson, Mark A.; Sie, Kathleen C.Y. (April 1999). "Results with sphincter pharyngoplasty and pharyngeal flap". International Journal of Pediatric Otorhinolaryngology. 48 (1): 17–25. doi:10.1016/S0165-5876(99)00006-3.
20. ^ Sloan, GM (February 2000). "Posterior pharyngeal flap and sphincter pharyngoplasty: the state of the art". The Cleft Palate-Craniofacial Journal. 37 (2): 112–22. doi:10.1597/1545-1569(2000)037<0112:PPFASP>2.3.CO;2. PMID 10749049.
21. ^ Spawen, P.H.M.; Huffstadt, A.J.C.; Schutte, H.K.; Ritsma, R.J. (1987). "De invloed van chirurgische behandeling van open neusspraak op horen en spreken". Nederlands Tijdschrift voor Geneeskunde [Netherlands Journal of Medicine] (in Dutch). 131: 161–6. Archived from the original on 2014-02-22.
## External links[edit]
Classification
D
* ICD-10: R49.21
* ICD-9-CM: 784.43
* MeSH: D014833
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypernasal speech | c0264614 | 28,477 | wikipedia | https://en.wikipedia.org/wiki/Hypernasal_speech | 2021-01-18T19:10:05 | {"umls": ["C0264614"], "wikidata": ["Q17155582"]} |
A number sign (#) is used with this entry because aminoacylase-1 deficiency (ACY1D) is caused by homozygous or compound heterozygous mutation in the ACY1 gene (104620) on chromosome 3p21.
Description
Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).
Clinical Features
Van Coster et al. (2005) reported an infant with aminoacylase-1 deficiency. He presented neonatally with an acute encephalopathy with onset on the third day of life and duration of about 2 weeks. Clinical features included seizures, apnea, vomiting, hypotonia, and sensorineural hearing loss. Urinalysis detected several N-acetylated amino acids. MRI showed cerebral atrophy. At age 9 months, he had reached normal developmental milestones and there were no abnormal clinical neurologic signs.
Sass et al. (2006) reported 4 children with a genetic deficiency of ACY1. They were identified through organic acid analyses using gas chromatography-mass spectrometry, revealing increased urinary secretion of several N-acetylated amino acids, including the derivatives of methionine, glutamic acid, alanine, leucine, glycine, valine, and isoleucine. Nuclear magnetic resonance spectroscopy analysis of urine samples detected a distinct pattern of N-acetylated metabolites, consistent with ACY1 dysfunction. Functional analyses of patients' lymphoblasts demonstrated ACY1 deficiency. The clinical phenotypes of the patients were heterogeneous: nonspecific psychomotor delay in 1 subject, psychomotor delay with atrophy of the vermis and syringomyelia in a second, marked muscular hypotonia in a third, and follow-up for early treated biotinidase deficiency with normal clinical findings in the fourth. The organic acids analysis that led to the detection of ACY1 deficiency was part of selective screening for inborn errors of metabolism, which is not performed routinely in healthy children but only in individuals in whom a metabolic disease is considered, resulting in a strong bias. It was uncertain whether ACY1 deficiency had pathogenic significance with pleiotropic clinical expression or was simply a biochemical variant. Sass et al. (2006) noted that the phenotypic variability of the patients did not support ACY1 deficiency as a disease. However, evolutionarily conservation of the ACY1 gene in fish, frog, mouse, and human, and its expression in the central nervous system in human, suggested a role of the enzyme in the amino acid metabolism of these organs. ACY1 is expressed in the kidney, an observation in line with a possible functional role of ACY1 in recycling of N-acetylated amino acids in the kidney, which could explain the highly elevated concentrations of N-acetylated amino acids in the urine of the 4 children harboring ACY1 mutations. Thus, in the case of severe dietary protein restriction, ACY1 dysfunction might contribute to reduced availability of amino acids due to impaired amino acid salvage. This could be a disadvantage during periods of profound catabolism or starvation. In addition, ACY1 deficiency might result in accumulation of acetylated amino acids in analogy to N-acetylaspartic acid in aminoacylase-2 (ACY2) deficiency (Canavan disease; 271900). A role of ACY1 in detoxification of benzoic acid and in the metabolism of certain drugs was suggested by Sass et al. (2006), who also suggested that ACY1 deficiency might have consequences later in life, perhaps as a predisposing factor or modifier.
Sass et al. (2007) reported 3 additional patients with ACY1 deficiency detected through newborn screening. Two patients were born of consanguineous parents of Asian and Romani origin, respectively. The Asian child presented with febrile seizures at 11 months of age, followed 3 months later by more seizures associated with a viral illness. She showed delayed speech and language development at age 4 years. The Romani child had onset of multifocal, drug-resistant epilepsy with atonic, tonic, and absence seizures at age 1 year. He was hyperactive with moderate mental retardation. He also had a broad nasal root and hypertelorism. The third patient, of English origin, presented at age 11 months with a prolonged generalized seizure and transient hemiplegia associated with illness. She showed complete recovery and normal development at age 19 months.
Ferri et al. (2014) reported a 6-year-old girl, born of consanguineous parents, with severe neurologic manifestations associated with ACY1 deficiency. She first presented at age 3 years with an episode of severe opisthotonos. She had a complex nonspecific neurologic phenotype including severe intellectual disability, axial hypotonia with inability to walk, limb hypertonia, and severe speech delay. Brain MRI showed dilatation of the left temporal horn. Urinary organic acid analysis showed increased levels of N-acetyl amino acids, consistent with a diagnosis of ACY1 deficiency.
Inheritance
The transmission pattern of ACY1 deficiency in the families reported by Sass et al. (2007) and Ferri et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In an infant with ACY1 deficiency, Van Coster et al. (2005) identified a homozygous mutation in the ACY1 gene (R353C; 104620.0002) resulting in loss of enzyme activity.
In 4 children with ACY1 deficiency, Sass et al. (2006) identified homozygous loss-of-function or missense mutations in the ACY1 gene. Segregation analyses revealed that all parents studied were heterozygous carriers of the mutations. The R353C mutation that was found in 2 of the 4 affected individuals was also found in 1 of 210 control chromosomes, consistent with the variant being a rare polymorphism or a more common mutation.
Sass et al. (2007) identified compound heterozygous or homozygous mutations in the ACY1 gene (104620.0002; 104620.0005; 104620.0006) in 3 unrelated patients with ACY1 deficiency. R353C was the most common mutation, present in 3 of the 6 alleles.
In a 6-year-old girl, born of consanguineous parents, with severe neurologic impairment associated with ACY1 deficiency, Ferri et al. (2014) identified a homozygous truncating mutation in the ACY1 gene (104620.0007). Patient fibroblasts showed complete absence of ACY1 enzyme activity.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Sensorineural hearing loss (reported in 1 patient) Eyes \- Hypertelorism (reported in 1 patient) Nose \- Broad nasal root (reported in 1 patient) MUSCLE, SOFT TISSUES \- Muscle weakness \- Hypotonia NEUROLOGIC Central Nervous System \- Seizures \- Psychomotor retardation, mild to moderate \- Acute encephalopathy \- Cerebral atrophy (reported in 1 patient) \- Cerebellar atrophy (reported in 1 patient) \- Delayed myelination (reported in 1 patient) Behavioral Psychiatric Manifestations \- Hyperactivity (reported in 1 patient) LABORATORY ABNORMALITIES \- Decreased aminoacylase-1 activity \- Increased urinary N-acetylated amino acids MISCELLANEOUS \- Variable phenotype \- Some patients are asymptomatic and detected only by newborn screening \- Seizures may occur with illness \- Patients may show normal development MOLECULAR BASIS \- Caused by mutation in the aminoacylase-1 gene (ACY1, 104620.0001 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| AMINOACYLASE 1 DEFICIENCY | c1835922 | 28,478 | omim | https://www.omim.org/entry/609924 | 2019-09-22T16:05:26 | {"mesh": ["C538246"], "omim": ["609924"], "orphanet": ["137754"]} |
A number sign (#) is used with this entry because somatic mutations in a number of different genes have been identified in hepatocellular carcinoma (HCC) and hepatoblastoma. These include TP53 (191170), MET (164860), CTNNB1 (116806), PIK3CA (171834), AXIN1 (603816), and APC (611731).
See 142330 for familial hepatic adenoma, sometimes associated with hepatocellular carcinoma.
Description
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Clinical Features
Primary cancer of the liver in 3 brothers was described by Kaplan and Cole (1965) and by Hagstrom and Baker (1968). In these patients there was no recognized preexisting liver disease. Denison et al. (1971) described 2 adult brothers who died of primary hepatocellular carcinoma. Both had micronodular cirrhosis with features of subacute progressive viral hepatitis. Australia antigen was demonstrated in the brother in whom it was sought. Their father had died much earlier of hepatocellular carcinoma.
Hepatoblastoma has been described in sibs (Fraumeni et al., 1969; Napoli and Campbell, 1977; Ito et al., 1987).
See 231100 for description of liver cancer as a complication of giant cell hepatitis of infancy. Familial liver cell carcinoma might also have its explanation in alpha-1-antitrypsin deficiency (613490), hemochromatosis (235200), and tyrosinemia (276700).
Jiang et al. (2019) used proteomic and phosphoproteomic profiling to characterize 110 paired tumor and nontumor tissues of clinical early-stage hepatocellular carcinoma related to hepatitis B virus infection. The quantitative proteomic data highlight heterogeneity in early-stage hepatocellular carcinoma. The cohort was stratified into subtypes S-I, S-II, and S-III, each of which has a different clinical outcome. S-III, which is characterized by disrupted cholesterol homeostasis, is associated with the lowest overall rate of survival and the greatest risk of a poor prognosis after first-line surgery.
Molecular Genetics
### Somatic Mutations
Oda et al. (1996) observed loss of heterozygosity (LOH) at the APC and/or MCC (159350) loci in 4 (57%) of 7 informative hepatoblastoma tissues. Somatic mutations were detected in 8 (61.5%) of the 13 total cases, with 9 cases (69%) showing genetic alterations in the APC gene as LOH or somatic mutations (see, e.g., 611731.0024). Double mutations were demonstrated in 2 cases. The nature of the somatic mutations observed in this study was unusual because 9 of the 10 mutations were missense, with only 1 case featuring a frameshift mutation due to an insertion. By contrast, more than 90% of mutations in the APC gene in colorectal tumors result in a truncated APC protein due to either frameshift or nonsense mutations.
Thorgeirsson and Grisham (2002) reviewed the molecular pathogenesis of HCC. The malignant phenotype is heterogeneous, and is produced by the disruption of a number of genes that function in different regulatory pathways, producing several molecular variants of HCC. The authors diagrammed the chronologic sequence of cellular events starting with chronic hepatitis from hepatitis B virus (HBV), hepatitis C virus (HCV), and AFB1, which together are responsible for approximately 80% of all HCCS in humans, and proceeding through successive steps of dysplasia and neoplasia. They diagrammed 11 autosome arms in 9 different chromosomes that have been found to contain allelic deletions in more than 30% of reported HCC. Other autosome arms contain allelic deletions in more than 20% of HCC. Heterogeneity of genomic aberrations may reflect the actions of different causative agents. A notable example of an aberration in gene structure related to a specific cause of HCCs is high frequency of the mutation arg249 to ser (191170.0006) of p53 in the tumors of patients chronically exposed to AFB. Thorgeirsson and Grisham (2002) tabulated 14 genes affected by loss of heterozygosity (LOH), mutation, or both in more than 15% of HCCs.
Activation of wingless (Wnt) signaling through mutations in beta-catenin (CTNNB1; 116806) contributes to the development of HCC and hepatoblastoma (review by Taniguchi et al., 2002). To explore the contribution of additional Wnt pathway molecules to hepatocarcinogenesis, Taniguchi et al. (2002) examined CTNNB1 mutations and mutations in AXIN1 (603816) and AXIN2 (604025) in 73 HCCs and 27 hepatoblastomas. Beta-catenin mutations were detected in 19.2% (14 of 73) HCCs and 70.4% (19 of 27) hepatoblastomas. Beta-catenin mutations in HCCs were primarily point mutations, whereas more than half of the hepatoblastomas had deletions. AXIN1 mutations occurred in 7 (9.6%) HCCs and 2 (7.4%) hepatoblastomas. The AXIN1 mutations included 7 missense mutations, a 1-bp deletion, and a 12-bp insertion. The predominance of missense mutations found in the AXIN1 gene is different from the small deletions or nonsense mutations described previously. Loss of heterozygosity at the AXIN1 locus was present in 4 of 5 informative HCCs with AXIN1 mutations, suggesting a tumor suppressor function for AXIN1. AXIN2 mutations were found in 2 (2.7%) HCCs and in no hepatoblastomas. Two HCCs had both AXIN1 and beta-catenin mutations, and 1 HCC had both AXIN2 and beta-catenin mutations. About half of the HCCs with AXIN1 or AXIN2 mutations showed beta-catenin accumulation in the nucleus, cytoplasm, or membrane. Overall, the data indicated that besides the approximately 20% of HCCs and 80% of hepatoblastomas with beta-catenin mutations contributing to hepatocarcinogenesis, AXIN1 and AXIN2 mutations appear to be important in an additional 10% of HCCs and hepatoblastomas.
Lee et al. (2005) detected somatic mutations in the PIK3CA gene (see, e.g., 171834.0007; 171834.0008) in 26 (35.6%) of 73 hepatocellular carcinomas.
Li et al. (2011) performed exome sequencing of 10 HCV-associated HCCs and matched normal tissue from 10 patients and a subsequent evaluation of additional affected individuals, and discovered novel inactivating mutations of ARID2 (609539) in 4 major subtypes of HCC (HCV-associated HCC, hepatitis B virus (HBV)-associated HCC, alcohol-associated HCC, and HCC with no known etiology). Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivating mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype.
Huang et al. (2012) used exome sequencing to identify somatic mutations in 10 hepatitis B virus-positive individuals with hepatocellular carcinoma with portal vein tumor thromboses (PVTTs), intrahepatic metastases. Both C:G-A:T and T:A-A:T transversions were frequently found among the 331 non-silent mutations. Notably, ARID1A (603024), which encodes a component of the SWI/SNF chromatin remodeling complex, was mutated in 14 of 110 (13%) HBV-associated HCC specimens. Huang et al. (2012) used RNA interference to assess the roles of 91 of the confirmed mutated genes in cellular survival. The results suggested that 7 of these genes, including VCAM1 (192225) and CDK14 (610679), may confer growth and infiltration capacity to HCC cells.
### Gene Expression Studies
Agarwal et al. (1998) reported a case of severe gynecomastia in a 17.5-year-old boy due to high levels of aromatase (CYP19A1; 107910) expression in a large fibrolamellar hepatocellular carcinoma, which caused extremely elevated serum levels of estrone (1200 pg/mL) and estradiol-17 (312 pg/mL) that suppressed follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (1.3 and 2.8 IU/L, respectively) and consequently testosterone (1.53 ng/mL). After removal of the 1.5-kg tumor, gynecomastia partially regressed, and normal hormone levels were restored. By immunohistochemistry, diffuse intracytoplasmic aromatase expression was detected in the liver cancer cells. Northern blot analysis showed P450 aromatase transcripts in total RNA from the hepatocellular cancer but not in the adjacent liver nor in disease-free adult liver samples. Promoters I.3 and II were used for P450 aromatase transcription in the cancer.
Schwienbacher et al. (2000) analyzed DNA and RNA from 52 human hepatocarcinoma samples and found abnormal imprinting of genes located at 11p15 in 51% of 37 informative samples. The most frequently detected abnormality was gain of imprinting, which led to loss of expression of genes present on the maternal chromosome. As compared with matched normal liver tissue, hepatocellular carcinoma showed extinction or significant reduction of expression of one of the alleles of the CDKN1C (600856), SLC22A1L (602631), and IGF2 (147470) genes. Loss of maternal-specific methylation of the KvDMR1 gene (607542) in hepatocarcinoma correlated with abnormal expression of CDKN1C and IGF2, suggesting a function for KvDMR1 as a long-range imprinting center active in adult tissues. These results pointed to the role of epigenetic mechanisms leading to loss of expression of imprinted genes at 11p15 in human tumors.
Ye et al. (2003) analyzed the expression profiles of hepatocellular carcinoma samples without or with intrahepatic metastases. Using a supervised machine-learning algorithm, they generated a molecular signature that can classify metastatic HCC patients and identified genes that were relevant to metastasis and patient survival (which is related particularly to intrahepatic metastases). They found that the gene expression signature of primary HCCs with accompanying metastasis was very similar to that of their corresponding metastases, implying that genes favoring metastasis progression were initiated in the primary tumors. Osteopontin (OPN; 166490), which was identified as a lead gene in the signature, was overexpressed in metastatic HCC; an osteopontin-specific antibody effectively blocked HCC in vitro and inhibited pulmonary metastasis of HCC cells in nude mice. Thus, osteopontin acts as both a diagnostic marker and a potential therapeutic target for metastatic HCC.
Tanabe et al. (2008) reported an association between a 61A-G SNP (rs4444903) in the EGF gene (131530) and the development of hepatocellular carcinoma in patients with cirrhosis. Secretion of EGF was 2.3-fold higher in G/G hepatocellular carcinoma cell lines compared to A/A cell lines, and mRNA transcripts with the G allele showed a longer half-life and increased stability. Among 207 patients with cirrhosis, liver EGF levels were 2.4-fold higher in G/G patients compared to A/A patients. Fifty-nine of the 207 patients with cirrhosis also had hepatocellular carcinoma, and there was a 4-fold increased odds of hepatocellular carcinoma in G/G patients compared with A/A patients. The association was validated in a second cohort of 121 patients with alcoholic cirrhosis and hepatocellular carcinoma.
Ji et al. (2009) analyzed hepatocellular carcinoma tissue derived from 455 patients from Shanghai and Hong Kong. Most of the patients were men (85.1%), were long-term carriers of the hepatitis B virus (HBV) (90.5%), had cirrhosis (88.0%), and an elevated serum level of alpha-fetoprotein (62.2%). The expression of MIRN26A1 (612151) and MIRN26B (612152) was decreased in tumor tissue compared to non-tumor tissue. Sex stratification showed that women had significantly higher expression of the MIRN26 genes in non-tumor liver tissue compared to men. Gene expression profiling using microarray showed distinct genetic patterns between tumors with low and high MIRN26 expression. The findings were consistent with the MIRN26 genes acting as tumor suppressors. Patients whose tumors showed low MIRN26 expression had shorter overall survival, but better response to interferon therapy compared to patients with higher expression of these MIRNs.
Yong et al. (2013) screened specimens obtained from 179 patients with hepatocellular carcinoma from Singapore for the expression of SALL4 (607343). SALL4 is an oncofetal protein that is expressed in human fetal liver and silenced in the adult liver, but is reexpressed in a subgroup of patients that have hepatocellular carcinoma with unfavorable prognosis. Gene expression analysis showed the enrichment of progenitor-like gene signatures with overexpression of proliferative and metastatic genes in SALL4-positive hepatocellular carcinomas. Yong et al. (2013) found that in a multivariate Cox regression model, SALL4 is an independent prognostic factor for overall survival (hazard ratio for death, 2.87; 95% confidence interval, 1.09 to 7.52; p = 0.03) in the Singapore cohort and an independent predictor of both overall survival (hazard ratio for death, 1.52; 95% confidence interval, 1.00-2.32; p = 0.05) and early recurrence (hazard ratio, 1.67; 95% CI, 1.11-2.51; p = 0.01) in the Hong Kong cohort. Loss-of-function studies confirmed the critical role of SALL4 in cell survival and tumorigenicity. Blocking SALL4-corepressor interactions released suppression of PTEN (601728) and inhibited tumor formation in xenograft models in vivo.
To help avoid additional risks associated with tumor biopsy in patients with SALL4-negative tumors, Hopkins et al. (2013) requested that Yong et al. (2013) determine the sensitivity and specificity of the serum alpha-fetoprotein level in predicting the SALL4 status of their hepatocellular carcinoma patients. Yong et al. (2013) replied that in the Hong Kong cohort of patients with hepatocellular carcinoma they observed a significant correlation between SALL4 mRNA expression and the serum alpha-fetoprotein level (p less than 0.001). The sensitivity and specificity of serum alpha-fetoprotein levels in predicting SALL4 expression in this cohort of 228 patients were calculated to be 66.7% and 68.4%, respectively. The data suggested that with a cutoff value of 100 ng per milliliter, a serum alpha-fetoprotein level of 100 ng per milliliter or more can identify 66.7% of patients with SALL4 mRNA expression. However, 31.6% of patients without SALL4 expression would be falsely identified as being positive for SALL4 expression. Yong et al. (2013) suggested that, to assess SALL4 expression without the need for patient biopsy specimens, a noninvasive assay to test serum SALL4 expression be developed.
Suzuki et al. (2013) asked of Yong et al. (2013) whether the unfavorable clinical outcome in high-SALL4 hepatocellular carcinoma is attributable to features of cholangiocarcinoma. Masuda et al. (2013) inquired whether reprogramming factors such as KLF5 or TBX3 could be involved in the pathogenesis of SALL4-related hepatocellular carcinoma, and if reexpression of SALL4 through hepatitis B infection has a role in upregulation of SALL4. Yong et al. (2013) replied that more studies would be necessary to address these queries.
### Hepatitis B Infection
Integration of HBV into cellular DNA occurs during long-term persistent infection in man. Hepatocellular carcinomas isolated from carriers of virus often contain clonally propagated viral DNA. Shen et al. (1991) presented evidence for the interaction of inherited susceptibility and hepatitis B viral infection in cases of primary hepatocellular carcinoma in eastern China. Complex segregation analysis of 490 extended families supported the existence of a recessive allele with population frequency approximately 0.25, which results in a lifetime risk of HCC in the presence of both HBV infection and genetic susceptibility, of 0.84 for males and 0.46 for females. The model further predicted that, in the absence of genetic susceptibility, lifetime risk of HCC is 0.09 for HBV-infected males and 0.01 for HBV-infected females and that regardless of genotype the risk is virtually zero for uninfected persons.
The finding of small deletions in retinoblastoma and Wilms tumor prompted Rogler et al. (1985) to look for the same in association with HBV integration in hepatocellular carcinoma. They demonstrated a deletion of at least 13.5 kb of cellular sequences in a liver cancer. The HBV integration and the deletion occurred on the short arm of chromosome 11 at location 11p14-p13. The deleted sequences were lost in tumor cells leaving only a single copy. Clones of the DNA flanking the deleted segment were used for the mapping of the deletion in somatic cell hybrids and by in situ hybridization. Cellular sequences homologous to the deleted region were cloned and used to exclude the possibility that this DNA had been moved to other positions in the genome. Fisher et al. (1987) extended the observations of Rogler et al. (1985). Using somatic cell hybrids that contained defined 11p deletions, 2 cloned DNA sequences that flank the deletion generated by a hepatocellular carcinoma (as a consequence of hepatitis B virus integration) were mapped to 11p13. Wilms tumor (194070) and the tumors of Beckwith-Wiedemann syndrome (130650) are also determined by changes on 11p. Wang and Rogler (1988) found loss of heterozygosity in 11p and 13q.
Integration of DNA from the hepatitis B virus has been shown to occur frequently in human hepatocellular carcinomas. Recombinant DNA probes have been isolated from such a tumor. These probes detected rearrangements of the corresponding DNA domain in 10% of liver tumors regardless of whether they were HBV-related or not (Pasquinelli et al., 1988). Blanquet et al. (1987, 1988) cloned the normal allele and used it for mapping an HCC locus by somatic cell hybrid studies and by in situ hybridization. These experiments showed that the locus is located in the area 4q32.1. Buetow et al. (1989) found that 7 of 11 primary liver tumors tested against a panel of RFLPs demonstrated loss of constitutional heterozygosity for markers on chromosome 4, particularly 4q. Buetow et al. (1989) suggested that chronic hepatitis B virus infection and other environmental agents may operate through genetic events leading to loss of a tumor suppressor locus (anti-oncogene) on chromosome 4. The findings were thought to be consistent with those of Pasquinelli et al. (1988), which placed the critical region in the vicinity of 4q32.
Smith et al. (1989) gave evidence for microdeletions of chromosome 4q involving the alcohol dehydrogenase isoenzyme gene ADH3 (ADH1C; 103730) and hepatomas from 3 of 5 individuals heterozygous for an XbaI RFLP detectable by the ADH probe. Two of 7 individuals heterozygous for an epidermal growth factor RFLP had lost 1 EGF allele in their hepatoma tissue.
Henderson et al. (1988) demonstrated that the integration of HBV DNA can result in, or be accompanied by, interchromosomal exchange of genomic material containing the integrated DNA. Using in situ hybridization, they found that unique cellular DNA to the left of an HBV DNA integration site, cloned from a primary tumor, mapped to chromosome 18q (18q11.1-q11.2); right-hand flanking DNA mapped to chromosome 17 (17q22-q25).
In a hepatoma specimen from Shanghai, Zhou et al. (1988) identified integration of hepatitis B virus into 17p12-p11.2, which is near the human protooncogene p53 (191170). Furthermore, the sequence of flanking cellular DNA showed highly significant homology with a conserved region of a number of functional mammalian DNAs, including the human autonomously replicated sequence-1 (ARS1; 109110). ARS1 is a sequence of human DNA that allows replication of Saccharomyces cerevisiae integrative plasmids as autonomously replicating elements in S. cerevisiae cells. Since integration of viral DNA is not a required step in the replicative cycle of the hepatitis virus, the presence of integrated HBV sequences in many human hepatocellular carcinomas suggests a causal relationship. Since any 1 of several integration sites may lead to the same result, the crucial cellular targets involved in triggering liver cell malignant transformation may differ from tumor to tumor.
Primary hepatocellular carcinoma occurs at high frequencies in east Asia and sub-Saharan Africa. In these areas of the world, chronic infection with the hepatitis B virus is the best documented risk factor; however, only 20 to 25% of HBV carriers develop HCC. Exposure to the fungal toxin aflatoxin B1 (AFB1) has been suggested to increase HCC risk, in part because in vitro experiments demonstrated that AFB1 mutagenic metabolites bind to DNA and are capable of inducing G-to-T transversions. In certain areas of the HCC endemic regions, a mutation hotspot has been reported in the p53 tumor suppressor gene (TP53; 191170): an AGG-to-AGT transversion (arginine to serine) of codon 249 in exon 7 (191170.0006). Microsomal epoxide hydrolase (EPHX; 132810) and glutathione-S-transferase M1 (GSTM1; 138350) are both involved in AFB1 detoxification in hepatocytes. Polymorphism of both genes has been identified. In Ghana and China, McGlynn et al. (1995) conducted studies to determine whether mutant alleles at one or both of these loci are associated with increased levels of serum AFB1-albumin adducts, with HCC, and with mutations at codon 249 of p53. In a cross-sectional study, they found that mutant alleles at both loci were significantly overrepresented in individuals with serum AFB1 albumin adducts. Additionally, in a case-control study, mutant alleles of EPHX were significantly overrepresented in persons with HCC. The relationship of EPHX to HCC varied by hepatitis B surface antigen status, indicating that a synergistic effect may exist. Mutations at codon 249 of p53 were observed only among HCC patients with one or both high-risk genotypes. These findings by McGlynn et al. (1995) supported the existence of genetic susceptibility in humans to the environmental carcinogen AFB1 and indicated that there is a synergistic increase in risk of HCC with the combination of hepatitis B virus infection and susceptible genotype.
Chiu et al. (2007) examined the roles of androgen receptor (AR; 313700) and the HBV nonstructural protein HBx in hepatocellular carcinoma, a disease that predominantly affects males. HBx increased the anchorage-independent colony formation potency of AR in a nontransformed mouse hepatocyte cell line. AR-mediated transcriptional activity was enhanced by HBx in an androgen concentration-dependent manner. Mutation analysis showed that HBx-enhanced AR gene transcriptional activity required intact HBx and the hinge region of AR. Immunoprecipitation and cell fractionation analyses revealed that HBx-AR interactions occurred mainly in the cytosol. HBx-enhanced AR activation involved SRC (190090) activity. Chiu et al. (2007) concluded that HBx is a noncellular positive coregulator of AR.
### Glycogen Storage Disease Type Ia
Hepatocellular adenoma (HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I; 232200), and malignant transformation to hepatocellular carcinoma (HCC) occurs in some cases. Kishnani et al. (2009) performed genomewide SNP analysis and mutation detection of target genes in 10 GSD Ia-associated HCA and 7 general population HCA cases. Chromosomal aberrations were detected in 60% of the GSD Ia HCA and 57% of general population HCA. Coincident gain of chromosome 6p and loss of 6q were seen only in GSD Ia HCA (3 cases) with 1 additional GSD I patient showing submicroscopic 6q14.1 deletion. The sizes of GSD Ia adenomas with chromosome 6 aberrations were larger than the sizes of adenomas without the changes (P = 0.012). Expression of IGF2R (FCGR2A; 146790) and LATS1 (603473) candidate tumor suppressor genes at 6q was reduced in more than 50% of 7 GSD Ia HCA examined. None of the GSD Ia HCA had biallelic mutations in the HNF1A (142410) gene. The authors suggested that chromosome 6 alterations could be an early event in the liver tumorigenesis in GSD I, and possibly in general population.
### Associations with HCC in Chronic HBV Carriers Pending Confirmation
By means of genetic association analysis, Shin et al. (2003) showed that the interleukin-10 (IL10; 124092) haplotype IL10-ht2 was strongly associated with hepatocellular carcinoma in a well-characterized HBV cohort. The frequency of susceptible IL10-ht2 was much higher in HCC patients and significantly increased in order of susceptibility to HBV progression from chronic hepatitis to liver cirrhosis and HCC among hepatitis B patients. In addition, survival analysis showed that the onset age of HCC was also accelerated among chronic hepatitis B patients who were carrying IL10-ht2. Shin et al. (2003) suggested that increased IL10 production mediated by IL10-ht2 accelerates progression of chronic HBV infection, especially to HCC development.
In a genomewide association study of 355 chronic HBV carriers with HCC and 360 chronic HBV carriers without HCC, all of Chinese ancestry, Zhang et al. (2010) found an association between HBV-related HCC and a SNP (rs17401966) in an intron of the KIF1B gene (605995) on chromosome 1p36.22. The association was confirmed in 5 additional independent Chinese samples, consisting of 1,962 individuals with HCC, 1,430 control subjects, and 159 family trios. Across all 6 studies, the combined p value for the protective G allele of rs17401966 was 1.7 x 10(-18), with an odds ratio of 0.61.
### Associations with HCC in Chronic HCV Carriers Pending Confirmation
Kumar et al. (2011) conducted a genomewide association study using 432,703 autosomal SNPs in 721 individuals with HCV-induced HCC and 2,890 HCV-negative controls of Japanese origin. Eight SNPs that showed possible association in the genomewide association study were further genotyped in 673 cases and 2,596 controls. Kumar et al. (2011) found a previously unidentified locus in the 5-prime flanking region of MICA (600169) on 6p21.33 (rs2596542, combined p = 4.21 x 10(-13), odds ratio = 1.39) to be strongly associated with HCV-induced HCC. Subsequent analyses using individuals with chronic hepatitis C (CHC) indicated that this SNP is not associated with CHC susceptibility but is significantly associated with progression from CHC to HCC (p = 3.13 x 10(-8)). Kumar et al. (2011) also found that the risk allele of rs2596542 was associated with lower soluble MICA protein levels in individuals with HCV-induced HCC (p = 1.38 x 10(-13)).
Pathogenesis
Yoo et al. (2009) found that expression of AEG1 (MTDH; 610323) was significantly elevated in hepatocellular carcinomas compared with normal human hepatocytes. Stable expression of AEG1 increased the aggressiveness of nontumorigenic human HCC cells, and inhibition of AEG1 abrogated tumorigenesis by aggressive HCC cells in a xenograft model of nude mice. In humans, AEG1 overexpression was associated with elevated copy number. Microarray analysis revealed that AEG1 modulated the expression of genes associated with invasion, metastasis, chemoresistance, angiogenesis, and senescence. AEG1 specifically activated Wnt (see 164820)/beta-catenin (CTNNB1; 116806) signaling, resulting in upregulation of LEF1 (153245), the ultimate executor of the Wnt signaling pathway. AEG1 also activated the NF-kappa-B (see 164011) pathway, which may play a role in the chronic inflammatory changes preceding HCC development. Yoo et al. (2009) concluded that AEG1 plays a central role in HCC pathogenesis.
By cDNA microarray, Western blot analysis, and luciferase constructs, Yoo et al. (2009) found significant upregulation of the transcription factor LSF (TFCP2; 189889) and increased LSF transcriptional activity in the nuclei of hepatocellular carcinoma cells expressing AEG1 compared to those without AEG1 expression. The increase in LSF activity correlated with significant increases in the downstream targets thymidylate synthetase (TYMS; 188350) during the growth cycle and dihydropyrimidine dehydrogenase (DPYD; 612779). The AEG1-transfected HCC cells showed more resistance to 5-fluorouracil (5-FU) treatment compared to those without AEG1 expression, which could be explained by the upregulation of both TYMS and DPYD. Studies with siRNA targeting AEG1, LSF, or DPYD abrogated the 5-FU resistance. In nude xenograft mice transfected with an HCC cell line that expressed AEG1 and showed resistance to 5-FU, inhibition of AEG1 resulted in significant inhibition in tumor growth, and a combination of 5-FU and AEG1 inhibition resulted in an additive effect on tumor growth inhibition. The findings demonstrated that AEG1 confers resistance to 5-FU by inducing the expression of LSF and DPYD, and pointed to a central role of AEG1 in HCC development and progression.
The S-III subtype of hepatitis B-related hepatocellular carcinoma is characterized by disrupted cholesterol homeostasis, and is associated with the lowest overall rate of survival among the 3 subtypes characterized by Jiang et al. (2019) and the greatest risk of a poor prognosis after first-line surgery. Jiang et al. (2019) found that knockdown of sterol O-acyltransferase-1 (SOAT1; 102642), high expression of which is a signature specific to the S-III subtype, altered the distribution of cellular cholesterol, and effectively suppressed the proliferation and migration of hepatocellular carcinoma. On the basis of a patient-derived tumor xenograft mouse model of hepatocellular carcinoma, Jiang et al. (2019) found that treatment with avasimibe, an inhibitor of SOAT1, markedly reduced the size of tumors that had high levels of SOAT1 expression.
HCC and intrahepatic cholangiocarcinoma (ICC; 615619) differ markedly with regards to their morphology, metastatic potential, and responses to therapy. Seehawer et al. (2018) demonstrated that the hepatic microenvironment epigenetically shapes lineage commitment in mosaic mouse models of liver tumorigenesis. Whereas a necroptosis-associated hepatic cytokine microenvironment determines ICC outgrowth from oncogenically transformed hepatocytes, hepatocytes containing identical oncogenic drivers give rise to HCC if they are surrounded by apoptotic hepatocytes. Epigenome and transcriptome profiling of mouse HCC and ICC singled out Tbx3 (601621) and Prdm5 (614161) as major microenvironment-dependent and epigenetically regulated lineage-commitment factors, a function that is conserved in humans. Seehawer et al. (2018) concluded that their results provided insight into lineage commitment in liver tumorigenesis, and explained molecularly why common liver-damaging risk factors can lead to either HCC or ICC.
### Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar HCC is a rare liver tumor affecting adolescents and young adults with no history of primary liver disease or cirrhosis. Honeyman et al. (2014) identified a chimeric transcript that is expressed in fibrolamellar HCC but not in adjacent normal liver and that arises as the result of an approximately 400-kb deletion on chromosome 19. The chimeric RNA is predicted to code for a protein containing the amino-terminal domain of DNAJB1 (604572), a homolog of the molecular chaperone DNAJ, fused in-frame with PRKACA (601639), the catalytic domain of protein kinase A. Immunoprecipitation and Western blot analyses confirmed that the chimeric protein is expressed in tumor tissue, and a cell culture assay indicated that it retains kinase activity. Evidence supporting the presence of the DNAJB1-PRKACA chimeric transcript in 100% of the fibrolamellar HCCs examined (15 of 15) suggests that this genetic alteration contributes to tumor pathogenesis.
Animal Model
Hill-Baskin et al. (2009) tested the long-term effects of high- and low-fat diets on male mice of 2 inbred strains and discovered that C57BL/6J but not A/J male mice were susceptible to nonalcoholic steatohepatitis (NASH) and hepatocellular carcinoma (HCC) on a high- but not low-fat diet. Susceptible mice showed morphologic characteristics of NASH (steatosis, hepatitis, fibrosis, and cirrhosis), dysplasia, and HCC. The mRNA profiles of HCCs versus tumor-free liver showed involvement of 2 signaling networks, one centered on Myc (190080) and the other on NFKB1 (164011), similar to signaling described for the 2 major classes of HCC in humans. The miRNA profiles revealed dramatically increased expression of a cluster of miRNAs on the X chromosome without amplification of the chromosomal segment. A switch from high- to low-fat diet reversed these outcomes, with switched C57BL/6J males being lean rather than obese and without evidence for NASH or HCCs at the end of the study. A similar diet modification may have important implications for prevention of hepatocellular carcinomas in humans.
INHERITANCE \- Somatic mutation ABDOMEN Liver \- Hepatocellular carcinoma \- Micronodular cirrhosis \- Subacute progressive viral hepatitis NEOPLASIA \- Primary liver cancer LABORATORY ABNORMALITIES \- Often integrated HBV sequences in hepatocellular carcinomas MISCELLANEOUS \- Genetic heterogeneity MOLECULAR BASIS \- Associated with mutation in the p53 tumor protein gene (TP53, 191170.0006 ) \- Associated with mutation in the MET protooncogene (MET, 164860.0008 ) \- Associated with mutation in the beta-1 catenin gene (CTNNB1, 116806.0013 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HEPATOCELLULAR CARCINOMA | c2239176 | 28,479 | omim | https://www.omim.org/entry/114550 | 2019-09-22T16:43:52 | {"doid": ["684"], "mesh": ["D006528"], "omim": ["114550"], "icd-10": ["C22.2", "C22.0"], "orphanet": ["88673", "449"], "synonyms": ["Alternative titles", "HCC", "CANCER, HEPATOCELLULAR", "LIVER CANCER", "LIVER CELL CARCINOMA", "HEPATOMA"]} |
## Clinical Features
Richmond et al. (1981) reported an autosomal dominant nephropathy in which morphology was primarily interstitial, with secondary glomerular atrophy. Renal failure was documented in 5 females and 2 males. In addition, 2 males and 1 female were thought to have died in renal failure, and 4 other males and 1 female were known to be affected. All patients presented as adults with hypertension and proteinuria, usually of mild degree. Rheumatoid arthritis was present in several members of the kindred, including some persons without nephritis; in doubly affected persons, it appeared to bear no temporal relationship to the renal disease. None of the affected persons had macroscopic hematuria and only 2 had microscopic hematuria. Extensive renal damage was present in 1 person despite good function.
Cohn et al. (2000) reported a large Israeli family of Iraqi Jewish origin with an autosomal dominant form of adult-onset nephropathy and hypertension. There were 14 affected individuals spanning 4 generations. Marked hypertension (diastolic pressure of 105 mm/Hg) was the presenting symptom in all patients. Eleven patients developed end-stage renal disease between ages 19 and 50 years. Seven underwent renal transplantation and 3 were on hemodialysis. Laboratory studies showed increased serum creatinine, but urine analysis was normal, with no evidence of proteinuria. None of the patients had any extrarenal manifestations. Renal biopsy reports were available from 2 patients. One had some sclerotic glomeruli with interstitial fibrosis and mild tubular atrophy. The other showed mild thinning of the membranes without other significant findings. No abnormalities were seen after immunofluorescent staining for IgG, IgA, IgM, C3 (120700), C4 (see 120810), C1q (see 120550), properdin (300383), fibrinogen (see 134820), and albumin (103600). Whether the hypertension was the primary cause of the renal failure or secondary to an underlying renal defect was unclear.
Inheritance
The transmission pattern of adult-onset nephropathy and hypertension in the family reported by Cohn et al. (2000) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis of a large Israeli family with nephropathy and hypertension, Cohn et al. (2000) identified a candidate disease locus on chromosome 1q21; maximum lod score = 4.71 at a recombination fraction of zero with D1S305. Recombination mapping defined an interval of approximately 11.6 cM between the markers at D1S2696 and D1S2635. Cohn et al. (2000) concluded that the disorder in the family they studied was distinct from the form of autosomal dominant medullary cystic kidney disease (MCKD1; 174000) that maps to 1q21. They noted that the gene encoding atrial natriuretic peptide receptor-1 (NPR1; 108960) had been mapped to this region. They suggested that although mice homozygous for a knockout mutation in the mouse Npr1 gene did not have nephritis or other obvious abnormalities of the kidney accompanying their hypertension, there may not have been time for this to develop. A polymorphic allele of NPR1 is associated with essential hypertension (Nakayama et al., 2000). Thus, NPR1 remained a candidate disease gene for the nephropathy/hypertension phenotype present in the family they described.
History
There are several early reports of hereditary nephropathy and/or nephritis in the literature. Affected kindreds were reported by Goldman and Haberfelde (1959), Ben-Ishay et al. (1967), Albert et al. (1969), and Pashayan et al. (1971).
Teisberg et al. (1973) presented evidence suggesting an inherited defect in immune function; serum from their patients was unable to lyse the third component of complement in vitro. This may have been a form of atypical autoimmune hemolytic anemia (see AHUS1; 235400).
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Vascular \- Hypertension GENITOURINARY Kidneys \- Renal failure, progressive \- End-stage renal disease \- Renal biopsy showed interstitial fibrosis \- Some sclerotic glomeruli \- No complement deposition LABORATORY ABNORMALITIES \- Increased serum creatinine \- No proteinuria MISCELLANEOUS \- Onset in young adulthood or adulthood \- Hypertension is presenting sign \- Progressive disorder \- One family has been reported (last curated December 2012) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION | c0403443 | 28,480 | omim | https://www.omim.org/entry/161900 | 2019-09-22T16:37:35 | {"mesh": ["C562889"], "omim": ["161900"], "orphanet": ["88659"], "synonyms": ["RENAL FAILURE, ADULT-ONSET", "NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT", "Alternative titles", "NEPHROPATHY, FAMILIAL"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant craniodiaphyseal dysplasia (CDD) is caused by heterozygous mutation in the SOST gene (605740) on chromosome 17q21.
Sclerosteosis (SOST1; 269500) and van Buchem disease (VBCH; 239100), are allelic disorders that are less severe and show autosomal recessive inheritance.
Description
Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Clinical Features
Schaefer et al. (1986) described a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. A severe bilateral hearing loss and facial diplegia with relative sparing of the optic nerves resulted. The long bones showed an extreme asymmetric hyperostosis and sclerosis of the diaphyses and evidence of a modeling defect in the metaphyses. The spine, ribs, clavicles, and pelvis all showed some degree of sclerosis and defective modeling but were less severely involved. Features distinguishing the disorder in these patients from the previously defined craniodiaphyseal dysplasia (218300) were a greater degree of hyperostosis and sclerosis, apparent dominant transmission, and metaphyseal involvement.
Bieganski et al. (2007) reported a boy with severe craniodiaphyseal dysplasia and his apparently unaffected mother. The boy had extensive osteosclerosis present at birth and the diagnosis of CDD was made at 4 weeks of age. His facial changes progressed with age with marked facial bone hyperplasia. He developed facial diplegia, bilateral conductive hearing loss, and optic nerve atrophy. At age 7, he developed progressive genu valgum and small cyst-like radiotranslucencies of the distal femoral epiphyses as seen in hyperparathyroidism. Metabolic studies revealed elevated PTH to 306.1 pg/ml (normal, 15-65 pg/ml) and serum alkaline phosphatase was 1491 IU/ L (normal, less than 455 IU/L). Total calcium was normal and serum phosphate was slightly decreased. A scan of the neck and chest showed a focus of increased tracer uptake corresponding to a parathyroid adenoma. Bieganski et al. (2007) noted some similarity in facial appearance between the mother and son. Radiographs in the mother revealed thickened, sclerotic bones of the calvarium and skull base. Leg and hand bones were normal. Biochemical studies revealed increased alkaline phosphatase and normal serum calcium, phosphorus, and parathyroid hormone. Bieganski et al. (2007) suggested that the mother had somatic and gonadal mosaicism, explaining her subclinical course and her severely affected son. Hyperparathyroidism had not previously been reported in CDD. Parathyroid hormone was normal in the patient reported by Schaefer et al. (1986) and elevated in a 5-year-old boy reported by Brueton and Winter (1990).
Hennekam et al. (2010) suggested that the patient described by Lelek (1961) as an example of Camurati-Engelmann disease may have had craniodiaphyseal dysplasia.
Kim et al. (2011) reported a Korean girl with severe CDD. At age 3 months, she had difficulty breathing through her nostrils, requiring surgical correction of suspected choanal atresia. Physical examination at age 3 years showed macrocephaly, hypertelorism, a broad flat nasal bridge with saddle nose, and prominent mandibles. Ophthalmologic examination showed papilledema secondary to increased intracranial pressure. CT scan of the head showed profound osteosclerosis and hyperostosis of the facial bones, resulting in obliteration of the paranasal sinuses, middle ear cavities, internal acoustic canals, and the optic nerve canals. Histologic studies of the palatine bones showed cortical sclerosis with cement lines. There was mild undermodeling of the metadiaphyses of the long bones and thickening of the ribs. Laboratory studies showed increased parathyroid hormone and alkaline phosphatase. The disorder was progressive, resulting in deterioration of hearing and vision, and chronic headaches. The patient died at age 8.5 years following surgery to reduce intracranial pressure.
Molecular Genetics
In a Korean girl with autosomal dominant CDD, Kim et al. (2011) identified a de novo heterozygous mutation in the SOST gene (V21M; 605740.0005). Genetic analysis of the patient reported by Bieganski et al. (2007) identified a second heterozygous SOST mutation affecting the same residue (V21L; 605740.0006). DNA from the possibly affected mother of the second patient was not available. Both mutations affected the secretion signal peptide of the protein, and in vitro functional expression studies showed that the mutations resulted in significantly decreased SOST secretion, although the proteins were produced in the cells. Kim et al. (2011) noted the phenotypic differences from other disorders due to SOST mutations, which are less severe and transmitted in an autosomal recessive pattern, and postulated a dominant-negative mechanism in CDD.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Head \- Macrocephaly Face \- Prominent mandible \- Facial diplegia \- Leonine facies Ears \- Hearing loss, progressive Eyes \- Hypertelorism \- Papilledema \- Optic nerve atrophy \- Visual loss, progressive Nose \- Saddle nose \- Broad flat nasal bridge \- Choanal stenosis RESPIRATORY Nasopharynx \- Difficulty breathing through the nostrils \- Respiratory obstruction CHEST Ribs Sternum Clavicles & Scapulae \- Thickened ribs \- Sclerotic ribs SKELETAL \- Increased bone mineral density \- Hyperostosis Skull \- Osteosclerosis \- Hyperostosis \- Facial bone hyperplasia \- Obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals \- Cortical sclerosis of facial bones \- Cement lines Limbs \- Diaphyseal sclerosis \- Undertubulation of the long bones of the legs NEUROLOGIC Central Nervous System \- Increased intracranial pressure \- Headaches LABORATORY ABNORMALITIES \- Increased serum parathyroid hormone \- Increased serum alkaline phosphatase MISCELLANEOUS \- Onset in infancy \- Progressive disorder \- Often results in death in childhood MOLECULAR BASIS \- Caused by mutation in the sclerostin gene (SOST, 605740.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | c0410539 | 28,481 | omim | https://www.omim.org/entry/122860 | 2019-09-22T16:42:48 | {"doid": ["0080033"], "mesh": ["C562940"], "omim": ["122860"], "orphanet": ["1513"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-27 (MRT27) is caused by homozygous mutation in the LINS1 gene (610350) on chromosome 15q26.
Clinical Features
Najmabadi et al. (2011) reported a family (family 7903014) in which 4 of 6 children had moderate intellectual disability and microcephaly.
Akawi et al. (2013) reported 2 sibs, born of consanguineous parents of Yemeni descent, with autosomal recessive mental retardation. The patients had delayed psychomotor development with very poor or lack of speech, head nodding, mild flattening of the midface, hypotonia, and poor growth. They did not have microcephaly. Brain MRI of 1 patient showed right frontal lobe vascular malformation with cortical and subcortical distribution. Although neither patient had seizures, 1 had an abnormal EEG with bilateral centrotemporal discharges.
Mapping
By homozygosity mapping of a consanguineous Iranian family (8600086) in which 3 individuals had moderate nonsyndromic mental retardation, Kuss et al. (2011) found linkage to a locus on distal chromosome 15q. The candidate interval spanned 17.4 Mb between SNPs rs936227 and rs12906289 (lod score of 3.9).
By homozygosity mapping of a consanguineous Syrian family (MR068) in which 5 sibs had nonsyndromic mental retardation, Abou Jamra et al. (2011) found linkage to a 23.6-Mb region on distal chromosome 15q between SNPs rs868127 and rs2388310 (lod score of 3.38).
Molecular Genetics
Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. In a family (family 7903014) in which 4 of 6 children had moderate intellectual disability and microcephaly, Najmabadi et al. (2011) identified a homozygous truncating mutation in the LINS1 gene (610350.0001).
In 2 sibs, born of consanguineous parents of Yemeni descent, with MRT27, Akawi et al. (2013) identified a homozygous 5-bp deletion in the LINS gene (610350.0002), resulting in a splicing defect. Analysis of patient cells showed that the mutation caused skipping of exon 5, which likely resulted in a truncated protein lacking several conserved amino acids, which was predicted to be deleterious to the function of the protein. The mutation was found by a combination of homozygosity mapping and whole-exome sequencing.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor growth HEAD & NECK Head \- Microcephaly (in some patients) Face \- Midface hypoplasia Nose \- Depressed nasal bridge MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Head nodding \- Poor speech Peripheral Nervous System \- Hyperreflexia Behavioral Psychiatric Manifestations \- Aggressive behavior (in some patients) MOLECULAR BASIS \- Caused by mutation in the lines homolog 1 gene (LINS1, 610350.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | c3280538 | 28,482 | omim | https://www.omim.org/entry/614340 | 2019-09-22T15:55:39 | {"doid": ["0060308"], "omim": ["614340"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
This article is about the form of cerebral palsy. For the type of dementia also known as Worster-Drought syndrome, see Familial British dementia.
Worster-Drought syndrome is a form of congenital suprabulbar paresis that occurs in some children with cerebral palsy. It is caused by inadequate development of the corticobulbar tracts and causes problems with the mouth and tongue including impaired swallowing.[1] A similar syndrome in adults is called anterior opercular syndrome.[1][2]
A 1986 study of a family in which multiple members had Worster-Drought Syndrome suggested it might be hereditary.[3]
A 2000 review of cases classified Worster-Drought Syndrome as a form of cerebral palsy, caused by early damage to the brain, but identified no obvious causes during gestation or birth and found some families with a history of the condition.[4]
The syndrome was named after Cecil Charles Worster-Drought, the doctor who discovered it in 1956.
## References[edit]
1. ^ a b Suresh PA, Deepa C (September 2004). "Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology". Developmental Medicine and Child Neurology. 46 (9): 617–25. doi:10.1111/j.1469-8749.2004.tb01026.x. PMID 15344522.
2. ^ Christen HJ, Hanefeld F, Kruse E, Imhäuser S, Ernst JP, Finkenstaedt M (February 2000). "Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome". Developmental Medicine and Child Neurology. 42 (2): 122–32. doi:10.1017/S0012162200000232. PMID 10698330.
3. ^ Patton MA, Baraitser M, Brett EM (February 1986). "A family with congenital suprabulbar paresis (Worster-Drought syndrome)". Clinical Genetics. 29 (2): 147–50. doi:10.1111/j.1399-0004.1986.tb01239.x. PMID 3955865.
4. ^ Clark M, Carr L, Reilly S, Neville BG (October 2000). "Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases". Brain. 123 (10): 2160–70. doi:10.1093/brain/123.10.2160. PMID 11004132.
## Sources[edit]
* Worster-Drought C (August 1956). "Congenital suprabulbar paresis". The Journal of Laryngology and Otology. 70 (8): 453–63. doi:10.1017/S0022215156000115. PMID 13357872.
* Malcolm Ray McNeil, Clinical Management of Sensorimotor Speech Disorders, New York: Thieme, 1997, p. 407.
* Bianca Specht-Moser, "Die Behandlung des Kausystems in der Kinder- und Jugendneurorehabilitation - Elemente eines Rehabilitationspfades" MS Thesis, Danube University Krems, September 2004 (pdf, German)
## External links[edit]
* Worster-Drought Syndrome Support Group
* Castillo-Morales Vereinigung English homepage \- holistic therapy
* Padovan Speech Therapy
* Worster-Drought Syndrome Support Group twitter page
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Worster-Drought syndrome | c0796204 | 28,483 | wikipedia | https://en.wikipedia.org/wiki/Worster-Drought_syndrome | 2021-01-18T18:50:27 | {"gard": ["5598"], "mesh": ["C536747"], "umls": ["C0796204"], "orphanet": ["3465"], "wikidata": ["Q8037137"]} |
A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
## Epidemiology
Fibronectin glomerulopathy exact prevalence is unknown. Only 20 families and 25 sporadic cases have been described in the literature so far.
## Clinical description
Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension, which can be severe, and edema, which initially develops around the eyes and legs but with time may become generalized. Patients may also present with varying degrees of renal failure that progressively worsen over several years, reaching end stage renal disease in the second to sixth decade of life.
## Etiology
Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far.
## Diagnostic methods
Diagnosis rests on renal biopsy. Typical findings at light microscopy are enlarged glomeruli with deposits in the mesangium and subendothelial space, usually with scant immunoreactivity for immunoglobulins or complement factors. Electron microscopy reveals deposits mainly located in the subendothelial space but also in the subepithelial and intramembranous spaces. Homogeneous granular deposits dominate in most cases; in some an admixture of fibrils is observed. The most striking finding is the immunoreactivity of the glomerular deposits to fibronectin. Family history is supportive of the diagnosis.
## Differential diagnosis
Differential diagnosis includes other chronic non-amyloid glomerulopathies with organized deposits including mixed cryoglobulinemia, fibrillary glomerulonephritis, immunotactoid glomerulopathy, collagen type III glomerulopathy, systemic lupus erythematosus, diabetes glomerulopathy and other non-specific collagen deposition diseases. It is difficult to discriminate fibronectin glomerulopathy from membranoproliferative glomerulonephritis at light microscopy examination.
## Genetic counseling
Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
## Management and treatment
There is no specific treatment for fibronectin glomerulopathy. Treatment of symptoms can include corticosteroids, diuretics and treatment for hypertension. Antiproteinuric and renoprotective treatment with ACE inhibitors or anti-AT1R antagonists could be of help to slow renal disease progression. More advanced cases of renal failure require renal dialysis or transplantation.
## Prognosis
Prognosis is uncertain, in some cases the disease follows an indolent course and in others it leads to end stage renal disease and chronic renal failure in the second to sixth decade of life.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Fibronectin glomerulopathy | c1866075 | 28,484 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84090 | 2021-01-23T18:41:41 | {"mesh": ["C536826"], "omim": ["137950", "601894"], "umls": ["C1866075", "C3888104"], "icd-10": ["N07.6"], "synonyms": ["GFND", "Glomerulopathy with fibronectin deposits"]} |
2q37 monosomy
Deleted Region in Chromosome 2
SpecialtyMedical genetics
2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 See also
* 4 References
* 5 External links
## Signs and symptoms[edit]
Almost all people with this syndrome have some degree of mental retardation and facial dysmorphism (round face, deep-set eyes, thin upper lip). Behavioural problems are common. Brachymetaphalangism (metacarpal or metatarsal shortening) is reported in ~50% of cases overall, but is typically not evident below the age of 2 years. There is striking phenotypic variability, and the size and extent of the deleted region cannot be used as accurate predictors of prognosis. Some patients have additional problems such as congenital heart disease and seizures.
## Genetics[edit]
The minimal deletion causing this syndrome has been defined as a 3 megabase region that contains the genes GPR35, GPC1 and STK25. Almost all deletions are found to be terminal deletions at the end of chromosome 2. There is a high frequency of de novo deletions, but multiple cases within a single family are also observed. Equal proportions of maternally and paternally derived rearrangements were seen in Aldred's series. No common breakpoints for the deletion were identified indicating that the 2q37 rearrangement is unlikely to be mediated by non-homologous recombination and low-copy repeats.[1] In a study of 20 patients,[1] no clear relationship was found between clinical features and the size or position of the monosomic region.
## See also[edit]
* 2q37 deletion syndrome
## References[edit]
1. ^ a b c Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC (2004). "Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes". J Med Genet. 41 (6): 433–9. doi:10.1136/jmg.2003.017202. PMC 1735790. PMID 15173228.
2. ^ Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ (2004). "Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype". Clin Genet. 66 (6): 537–44. doi:10.1111/j.1399-0004.2004.00363.x. PMID 15521982.
## External links[edit]
Classification
D
* OMIM: 600430
* MeSH: C538317
* DECIPHER database entry for 2q37 monosomy
* Genetics home reference for 2q37 deletion syndrome
* v
* t
* e
Mutation
Mechanisms of mutation
* Insertion
* Deletion
* Substitution
* Transversion
* Transition
Mutation with respect to structure
Point mutation
* Nonsense mutation
* Missense mutation
* Conservative mutation
* Silent mutation
* Frameshift mutation
* Dynamic mutation
Large-scale mutation
* Chromosomal translocations
* Chromosomal inversions
Mutation with respect to overall fitness
* Deleterious mutation
* Advantageous mutation
* Neutral mutation
* Nearly neutral mutation
* Synonymous mutation
* Nonsynonymous mutation
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 2q37 monosomy | c2931817 | 28,485 | wikipedia | https://en.wikipedia.org/wiki/2q37_monosomy | 2021-01-18T18:57:32 | {"gard": ["10202"], "mesh": ["C538317"], "umls": ["C2931817"], "orphanet": ["1001"], "wikidata": ["Q574227"]} |
An association of anal atresia with penoscrotal inversion ('shawl scrotum') and hypospadias in males or with biseptate uterus in females is common for persons with distal deletion of 13q, but relatively uncommon for persons with normal karyotype. Bartsch et al. (1996) described 2 unrelated males with malformations of the anogenital region and deletions of 13q32.2qter and 13q32q34, respectively. Bartsch et al. (1996) concluded that segment 13q32.2q34 must harbor one or more developmental genes that produce anogenital anomalies due to the loss of normal homozygosity. Deletion of the same segment of chromosome 13 has been found in other patients with these abnormalities (Carmichael et al., 1977; Vittu et al., 1989; Brown et al., 1993).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION | c1865208 | 28,486 | omim | https://www.omim.org/entry/602553 | 2019-09-22T16:13:37 | {"mesh": ["C566526"], "omim": ["602553"], "orphanet": ["1590"]} |
Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance 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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypoparathyroidism | c0020626 | 28,487 | gard | https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism | 2021-01-18T17:59:52 | {"mesh": ["D007011"], "umls": ["C0020626"], "synonyms": ["Parathyroid, underactivity of", "Hypoparathyroidism, idiopathic (subtype)"]} |
Adenoid hypertrophy
Adenoid hilighted in green.
SpecialtyPulmonology
Adenoid hypertrophy (enlarged adenoids) is the unusual growth (hypertrophy) of the adenoid (pharyngeal tonsil) first described in 1868 by the Danish physician Wilhelm Meyer (1824–1895) in Copenhagen. He described a long term adenoid hypertrophy that will cause an obstruction of the nasal airways. These will lead to a dentofacial growth anomaly that was defined as "adenoid facies" (see long face syndrome).
There is very little lymphoid tissue in the nasopharynx of young babies; humans are born without substantial adenoids. The mat of lymphoid tissue called adenoids starts to get sizable during the first year of life. Just how big the adenoids become is quite variable between individual children.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Additional reading
* 6 References
* 7 External links
## Signs and symptoms[edit]
Ball-sized adenoid blocking the nasal passage.
Enlarged adenoids can become nearly the size of a ping pong ball and completely block airflow through the nasal passages. Even if enlarged adenoids are not substantial enough to physically block the back of the nose, they can obstruct airflow enough so that nasal breathing requires an uncomfortable amount of work, and inhalation occurs instead through mouth breathing. Adenoids can also obstruct the nasal airway enough to affect the voice without actually stopping nasal airflow altogether.[1]
Nasal blockage is determined by at least two factors: 1) the size of the adenoids, and 2) the size of the nasal pharynx passageway. The adenoid usually reaches its greatest size by about age 5 years or so, and then fades away ("atrophies") by late childhood - generally by the age of 7 years. The lymphoid tissue remains under the mucosa of the nasopharynx, and could be seen under a microscope if the area was biopsied, but the mass is so reduced in size that the roof of the nasopharynx becomes flat rather than mounded. Just as the size of the adenoids is variable between individuals, so is the age at which adenoids atrophy.[citation needed]
The symptoms caused by enlarged adenoids are mostly due to where this lymphoid tissue is located. The adenoids are in the midline of the nasopharynx, and the Eustachian tubes open from either ear to the right and left of them. In children with excessive middle ear infections and chronic middle ear fluid, there is a high bacterial count in the adenoids as compared to children without problematic otitis media, even if the size of the adenoids is small. The adenoids in these cases provide a reservoir of pathogenic bacteria that cause ear infections and subsequent middle ear effusions (fluid).[citation needed]
The nasopharynx lies directly above the throat. Splashes of excessive "drip" from infected adenoids may fall directly onto the vocal cords. Although the larynx and vocal cords do not ordinarily become infected from adenoiditis, their mucosa does become irritated. The vocal cords are extremely sensitive to touch, and any fluid drops falling on them cause an irresistible urge to cough. Adenoiditis therefore is one of the causes of cough.[citation needed]
## Causes[edit]
The adenoids, like all lymphoid tissue, enlarge when infected. Although lymphoid tissue does act to fight infection, sometimes bacteria and viruses can lodge within it and survive. Chronic infection, either viral or bacterial, can keep the pad of adenoids enlarged for years, even into adulthood. Some viruses, such as the Epstein–Barr virus, can cause dramatic enlargement of lymphoid tissue. Primary or reactivation infections with Epstein–Barr virus, and certain other bacteria and viruses, can even cause enlargement of the adenoidal pad in an adult whose adenoids had previously become atrophied.
## Diagnosis[edit]
1. Posterior rhinoscopy: was used in earlier times; the postnasal space is visualized using a posterior rhinoscopy mirror.
2. Diagnostic nasal endoscopy: A rigid or a flexible nasopharyngoscope can help to see details in a cooperative child.
3. Computed tomography scan of nasopharynx
4. X-ray lateral view of nasopharynx
Detailed nasal examination should always be done to exclude other causes of nasal obstruction.
## Treatment[edit]
There is some low-quality evidence suggesting that mometasone may lead to symptomatic improvement in children with adenoid hypertrophy.[2]
Surgical removal of the adenoids is a procedure called adenoidectomy. Carried out through the mouth under a general anaesthetic, adenoidectomy involves the adenoids being curetted, cauterised, lasered, or otherwise ablated. Adenoidectomy is most often performed because of nasal obstruction, but is also performed to reduce middle ear infections and fluid (otitis media). The procedure is often carried out at the same time as a tonsillectomy, since the adenoids can be clearly seen and assessed by the surgeon at that time.
## Additional reading[edit]
* Gates G (1996). "Sizing up the adenoid". Arch Otolaryngol Head Neck Surg. 122 (3): 239–40. doi:10.1001/archotol.1996.01890150017004. PMID 8607949.
* Kenna, Margaret A.; Bluestone, Charles D.; Stool, Sylvan E. (1996). "Chapters 58–59". Pediatric otolaryngology. 2. Philadelphia: Saunders. ISBN 978-0-7216-5248-1.
* BUPA Health Fact Sheet. "Adenoidectomy"
## References[edit]
1. ^ Rao A, ed. (2012). Principles and Practice of Pedodontics (3rd ed.). New Delhi: Jaypee Brothers Medical Pub. pp. 169, 170. ISBN 9789350258910.
2. ^ Chohan, A; Lal, A; Chohan, K; Chakravarti, A; Gomber, S (13 July 2015). "Systematic review and meta-analysis of randomized controlled trials on the role of mometasone in adenoid hypertrophy in children". International Journal of Pediatric Otorhinolaryngology. 79 (10): 1599–608. doi:10.1016/j.ijporl.2015.07.009. PMID 26235732.
## External links[edit]
Classification
D
* ICD-10: J35.2
* ICD-9-CM: 474.12
External resources
* MedlinePlus: 001649
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
* v
* t
* e
Symptoms and signs relating to the respiratory system
Auscultation
* Stethoscope
* Respiratory sounds
* Stridor
* Wheeze
* Crackles
* Rhonchi
* Stertor
* Squawk
* Pleural friction rub
* Fremitus
* Bronchophony
* Terminal secretions
* Elicited findings
* Percussion
* Pectoriloquy
* Whispered pectoriloquy
* Egophony
Breathing
Rate
* Apnea
* Prematurity
* Dyspnea
* Hyperventilation
* Hypoventilation
* Hyperpnea
* Tachypnea
* Hypopnea
* Bradypnea
Pattern
* Agonal respiration
* Biot's respiration
* Cheyne–Stokes respiration
* Kussmaul breathing
* Ataxic respiration
Other
* Respiratory distress
* Respiratory arrest
* Orthopnea/Platypnea
* Trepopnea
* Aerophagia
* Asphyxia
* Breath holding
* Mouth breathing
* Snoring
Other
* Chest pain
* In children
* Precordial catch syndrome
* Pleurisy
* Nail clubbing
* Cyanosis
* Cough
* Sputum
* Hemoptysis
* Epistaxis
* Silhouette sign
* Post-nasal drip
* Hiccup
* COPD
* Hoover's sign
* asthma
* Curschmann's spirals
* Charcot–Leyden crystals
* chronic bronchitis
* Reid index
* sarcoidosis
* Kveim test
* pulmonary embolism
* Hampton hump
* Westermark sign
* pulmonary edema
* Kerley lines
* Hamman's sign
* Golden S sign
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Adenoid hypertrophy | c0149825 | 28,488 | wikipedia | https://en.wikipedia.org/wiki/Adenoid_hypertrophy | 2021-01-18T18:31:54 | {"umls": ["C0149825"], "wikidata": ["Q1436558"]} |
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Steroid-responsive encephalopathy associated with autoimmune thyroiditis | c0393639 | 28,489 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83601 | 2021-01-23T18:30:43 | {"gard": ["8570"], "mesh": ["C535841"], "umls": ["C0393639"], "icd-10": ["G04.8"], "synonyms": ["Hashimoto encephalitis", "SREAT"]} |
Wernicke encephalopathy
Other namesWernicke's disease
Hypothalamus
SpecialtyNeurology
SymptomsAtaxia, ophthalmoplegia, confusion
CausesThiamine deficency
Risk factorsAlcoholism, malnutrition
Wernicke encephalopathy (WE), also Wernicke's encephalopathy[1] is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders, that includes beriberi in all its forms, and alcoholic Korsakoff syndrome. When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome.[2][3]
Classically, Wernicke encephalopathy is characterised by the triad – ophthalmoplegia, ataxia, and confusion. Around 10% of patients exhibit all three features, and other symptoms may also be present.[4] While it is commonly regarded as a condition peculiar to malnourished people with alcohol misuse, it can be caused by a variety of diseases.[2][5] It is treated with thiamine supplementation, which can lead to improvement of the symptoms and often complete resolution, particularly in those where alcohol misuse is not the underlying cause.[6] Often other nutrients also need to be replaced, depending on the cause.
Wernicke encephalopathy may be present in the general population with a prevalence of around 2%, and is considered underdiagnosed; probably, many cases are in patients who do not have commonly-associated symptoms.[7]
## Contents
* 1 Signs and symptoms
* 1.1 Location of the lesion
* 1.2 Korsakoff syndrome
* 2 Risk factors
* 3 Pathophysiology
* 3.1 Neuropathology
* 3.2 Pathological anatomy
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 7 Epidemiology
* 8 History
* 9 Children
* 10 References
* 11 External links
## Signs and symptoms[edit]
The classic triad of symptoms found in Wernicke encephalopathy is:[8]
* ophthalmoplegia (later expanded to other eye movement disorders, most commonly affecting the lateral rectus muscle.[8] Lateral nystagmus is most commonly seen although lateral rectus palsy, usually bilateral, may be seen).
* ataxia (later expanded to imbalance or any cerebellar signs)
* confusion (later expanded to other mental changes. Has 82% incidence in diagnosis cases)
However, in actuality, only a small percentage of patients experience all three symptoms,[9] and the full triad occurs more frequently among those who have overused alcohol.
Also a much more diverse range of symptoms has been found in patients with this condition, including:
* pupillary changes, retinal hemorrhage, papilledema,[10] impaired vision and hearing,[11] vision loss[12][13]
* hearing loss,[14]
* fatigability, apathy, irritability, drowsiness, psycho and/or motor slowing[9]
* dysphagia,[15] blush, sleep apnea, epilepsy[16] and stupor
* lactic acidosis[17]
* memory impairment,[8] amnesia,[18] depression,[19] psychosis[20][21]
* hypothermia,[12][22][23] polyneuropathy,[24] hyperhidrosis.[15][25]
Although hypothermia is usually diagnosed with a body temperature of 35 °C / 95° Fahrenheit, or less, incipient cooling caused by deregulation in the central nervous system (CNS) needs to be monitored because it can promote the development of an infection.[15] The patient may report feeling cold, followed by mild chills, cold skin, moderate pallor, tachycardia, hypertension, tremor or piloerection. External warming techniques are advised to prevent hypothermia.[citation needed]
Among the frequently altered functions are the cardio circulatory. There may be tachycardia, dyspnea, chest pain, orthostatic hypotension, changes in heart rate and blood pressure.[26] The lack of thiamine sometimes affects other major energy consumers, the myocardium, and also patients may have developed cardiomegaly.[27] Heart failure with lactic acidosis syndrome has been observed.[28] Cardiac abnormalities are an aspect of the WE, which was not included in the traditional approach,[3][29] and are not classified as a separate disease. Infections have been pointed out as one of the most frequent triggers of death in WE.[29][30] Furthermore, infections are usually present in pediatric cases.[31][32]
In the last stage others symptoms may occur: hyperthermia, increased muscle tone, spastic paralysis, choreic dyskinesias and coma.[citation needed]
Because of the frequent involvement of heart, eyes and peripheral nervous system, several authors prefer to call it Wernicke disease rather than simply encephalopathy.[3][33]
Early symptoms are nonspecific,[34][35] and it has been stated that WE may present nonspecific findings.[36] In Wernicke Korsakoff's syndrome some single symptoms are present in about one-third.[37]
### Location of the lesion[edit]
Depending on the location of the brain lesion different symptoms are more frequent:[citation needed]
* Brainstem tegmentum. - Ocular: pupillary changes. Extraocular muscle palsy; gaze palsy: nystagmus.
* Hypothalamus. Medulla: dorsal nuc. of vagus. - Autonomic dysfunction: temperature; cardiocirculatory; respiratory.
* Medulla: vestibular region. Cerebellum. - Ataxia.
* Dorsomedial nuc. of thalamus. Mammillary bodies. - Amnestic syndrome for recent memory.
Mamillary lesion are characteristic-small petechial hemorrhages are found.
* Diffuse cerebral dysfunction.- Altered cognition: global confusional state.
* Brainstem: periaqueductal gray.- Reduction of consciousness[38]
* Hypothalamic lesions may also affect the immune system, which is known in alcohol abusers, causing dysplasias and infections.
### Korsakoff syndrome[edit]
Korsakoff syndrome, characterised by memory impairment, confabulation, confusion and personality changes, has a strong and recognised link with WE.[2][39] A very high percentage of patients with Wernicke–Korsakoff syndrome also have peripheral neuropathy, and many alcoholics have this neuropathy without other neurologic signs or symptoms.[40] Korsakoff's occurs much more frequently in WE due to chronic alcoholism.[39] It is uncommon among those who do not consume alcohol abusively. Up to 80% of WE patients who abuse alcohol develop Korsakoff's syndrome.[36] In Korsakoff's, is usually observed atrophy of the thalamus and the mammillary bodies, and frontal lobe involvement.[36] In a study, half of Wernicke-Korsakoff cases had good recovery from the amnesic state, which may take from 2 months to 10 years.[citation needed]
## Risk factors[edit]
Wernicke encephalopathy has classically been thought of as a disease solely of alcoholics, but it is also found in the chronically undernourished, and in recent years had been discovered post bariatric surgery.[8][36] Without being exhaustive, the documented causes of Wernicke encephalopathy have included:
* pancreatitis, liver dysfunction, chronic diarrhea, celiac disease, Crohn's disease, uremia,[36] thyrotoxicosis[41]
* vomiting,[5] hyperemesis gravidarum,[41] malabsorption, gastrointestinal surgery or diseases[5]
* incomplete parenteral nutrition,[41] starvation/fasting[5]
* chemotherapy,[36] renal dialysis,[41] diuretic therapy,[41] stem cell/marrow transplantation[5]
* cancer, AIDS,[42] Creutzfeldt–Jakob disease,[8][43] febrile infections[5]
* this disease may even occur in some people with normal, or even high blood thiamine levels, are people with deficiencies in intracellular transport of this vitamin.[8] Selected genetic mutations, including presence of the X-linked transketolase-like 1 gene, SLC19A2 thiamine transporter protein mutations, and the aldehyde dehydrogenase-2 gene, which may predispose to alcoholism.[36] The APOE epsilon-4 allele, involved in Alzheimer's disease, may increase the chance of developing neurological symptoms.[36]
## Pathophysiology[edit]
Thiamine deficiency and errors of thiamine metabolism are believed to be the primary cause of Wernicke encephalopathy. Thiamine, also called B1, helps to break down glucose. Specifically, it acts as an essential coenzyme to the TCA cycle and the pentose phosphate shunt. Thiamine is first metabolised to its more active form, thiamine diphosphate (TDP), before it is used. The body only has 2–3 weeks of thiamine reserves, which are readily exhausted without intake, or if depletion occurs rapidly, such as in chronic inflammatory states or in diabetes.[8][36] Thiamine is involved in:[36][44]
1. Metabolism of carbohydrates, releasing energy.
2. Production of neurotransmitters including glutamic acid and GABA.
3. Lipid metabolism, necessary for myelin production.
4. Amino acid modification. Probably linked to the production of taurine, of great cardiac importance.[45][46]
### Neuropathology[edit]
The primary neurological-related injury caused by thiamine deficiency in WE is three-fold: oxidative damage, mitochondrial injury leading to apoptosis, and directly stimulating a pro-apoptotic pathway.[47] Thiamine deficiency affects both neurons and astrocytes, glial cells of the brain. Thiamine deficiency alters the glutamate uptake of astrocytes, through changes in the expression of astrocytic glutamate transporters EAAT1 and EAAT2, leading to excitotoxicity. Other changes include those to the GABA transporter subtype GAT-3, GFAP, glutamine synthetase, and the Aquaporin 4 channel.[48] Focal lactic acidosis also causes secondary oedema, oxidative stress, inflammation and white matter damage.[49]
### Pathological anatomy[edit]
Cerebellum
Despite its name, WE is not related to Wernicke's area, a region of the brain associated with speech and language interpretation.[citation needed]
In most, early lesions completely reversed with immediate and adequate supplementation.[citation needed]
Lesions are usually symmetrical in the periventricular region, diencephalon, the midbrain, hypothalamus, and cerebellar vermis. Brainstem lesions may include cranial nerve III, IV, VI and VIII nuclei, the medial thalamic nuclei, and the dorsal nucleus of the vagus nerve. Oedema may be found in the regions surrounding the third ventricle, and fourth ventricle, also appearing petechiae and small hemorrhages.[50] Chronic cases can present the atrophy of the mammillary bodies.[51]
Endothelial proliferation, hyperplasia of capillaries, demyelination and neuronal loss can also occur.[citation needed]
An altered blood–brain barrier may cause a perturbed response to certain drugs and foods.[52]
## Diagnosis[edit]
Diagnosis of Wernicke encephalopathy or disease is made clinically.[5][53] Caine et al. in 1997 established criteria that Wernicke encephalopathy can be diagnosed in any patient with just two or more of the main symptoms noted above.[54] The sensitivity of the diagnosis by the classic triad was 23% but increased to 85% taking two or more of the four classic features. This criteria is challenged because all the cases he studied were alcoholics. Some consider it sufficient to suspect the presence of the disease with only one of the principal symptoms.[4] Some British hospital protocols suspect WE with any one of these symptoms: confusion, decreased consciousness level (or unconsciousness, stupor or coma), memory loss, ataxia or unsteadiness, ophthalmoplegia or nystagmus, and unexplained hypotension with hypothermia. The presence of only one sign should be sufficient for treatment.[55]
As a much more diverse range of symptoms has been found frequently in patients it is necessary to search for new diagnostic criteria, however Wernicke encephalopathy remains a clinically-diagnosed condition. Neither the MR, nor serum measurements related to thiamine are sufficient diagnostic markers in all cases. However, as described by Zuccoli et al. in several papers the involvement of the cranial nerve nuclei and central gray matter on MRI, is very specific to WE in the appropriate clinical setting.[51] Non-recovery upon supplementation with thiamine is inconclusive.[citation needed]
The sensitivity of MR was 53% and the specificity was 93%. The reversible cytotoxic edema was considered the most characteristic lesion of WE. The location of the lesions were more frequently atypical among non-alcoholics, while typical contrast enhancement in the thalamus and the mammillary bodies was observed frequently associated with alcohol abuse.[51] These abnormalities may include:[8]
* Dorsomedial thalami, periaqueductal gray matter, mamillary bodies, tectal plate and brainstem nuclei are commonly affected.[56] Involvement is always bilateral and symmetric. Value of DWI in the diagnosis of WE is minimal. Axial FLAIR MRI images represent the best diagnostic MRI sequence. Contrast material may highlight involvement of the mamillary bodies.
There appears to be very little value for CT scans.[5]
Thiamine can be measured using an erythrocyte transketolase activity assay,[5] or by activation by measurement of in vitro thiamine diphosphate levels.[5] Normal thiamine levels do not necessarily rule out the presence of WE,[5] as this may be a patient with difficulties in intracellular transport.
## Prevention[edit]
There are hospital protocols for prevention, supplementing with thiamine in the presence of: history of alcohol misuse or related seizures, requirement for IV glucose, signs of malnutrition, poor diet, recent diarrhea or vomiting, peripheral neuropathy, intercurrent illness, delirium tremens or treatment for DTs, and others.[55][57] Some experts advise parenteral thiamine should be given to all at-risk patients in the Emergency Department.[5]
In the clinical diagnosis should be remembered that early symptoms are nonspecific,[34][35] and it has been stated that WE may present nonspecific findings.[36] There is consensus to provide water-soluble vitamins and minerals after gastric operations.[citation needed]
In some countries certain foods have been supplemented with thiamine, and have reduced WE cases. Improvement is difficult to quantify because they applied several different actions. Avoiding or moderating alcohol consumption and having adequate nutrition reduces one of the main risk factors in developing Wernicke-Korsakoff syndrome.[citation needed]
## Treatment[edit]
Most symptoms will improve quickly if deficiencies are treated early. Memory disorder may be permanent.[58]
In patients suspected of WE, thiamine treatment should be started immediately.[36] Blood should be immediately taken to test for thiamine, other vitamins and minerals levels. Following this an immediate intravenous or intramuscular dose of thiamine should be administered[33] two or three times daily. Thiamine administration is usually continued until clinical improvement ceases.[citation needed]
Considering the diversity of possible causes and several surprising symptomatologic presentations, and because there is low assumed risk of toxicity of thiamine, because the therapeutic response is often dramatic from the first day, some qualified authors indicate parenteral thiamine if WE is suspected, both as a resource for diagnosis and treatment.[5] The diagnosis is highly supported by the response to parenteral thiamine, but is not sufficient to be excluded by the lack of it.[59] Parenteral thiamine administration is associated with a very small risk of anaphylaxis.[citation needed]
Alcohol abusers may have poor dietary intakes of several vitamins, and impaired thiamine absorption, metabolism, and storage; they may thus require higher doses.[34]
If glucose is given, such as in hypoglycaemic alcoholics, thiamine must be given concurrently. If this is not done, the glucose will rapidly consume the remaining thiamine reserves, exacerbating this condition.[36]
The observation of edema in MR, and also the finding of inflation and macrophages in necropsied tissues,[50] has led to successful administration of antiinflammatories.[60][61]
Other nutritional abnormalities should also be looked for, as they may be exacerbating the disease.[30][62] In particular, magnesium, a cofactor of transketolase which may induce or aggravate the disease.[36]
Other supplements may also be needed, including: cobalamin, ascorbic acid, folic acid, nicotinamide, zinc,[63][64] phosphorus (dicalcium phosphate)[65] and in some cases taurine, especially suitable when there cardiocirculatory impairment.[66][67] Patient-guided nutrition is suggested. In patients with Wernicke-Korsakoff syndrome, even higher doses of parenteral thiamine are recommended. Concurrent toxic effects of alcohol should also be considered.[39][65]
## Epidemiology[edit]
There are no conclusive statistical studies, all figures are based on partial studies, and because of the ethical problems in conducting controlled trials are unlikely to be obtained in the future.[citation needed]
Wernicke's lesions were observed in 0.8 to 2.8% of the general population autopsies, and 12.5% of alcoholics. This figure increases to 35% of alcoholics if including cerebellar damage due to lack of thiamine.[68]
Most autopsy cases were from alcoholics. Autopsy series were performed in hospitals on the material available which is unlikely to be representative of the entire population. Considering the slight affectations, previous to the generation of observable lesions at necropsy, the percentage should be higher. There is evidence to indicate that Wernicke encephalopathy is underdiagnosed.[9][69] For example, in one 1986 study, 80% of cases were diagnosed postmortem.[9] Is estimated that only 5–14% of patients with WE are diagnosed in life.[70]
In a series of autopsy studies held in Recife, Brazil, it was found that only 7 out of 36 had had alcoholic habits, and only a small minority had malnutrition.[71] In a reviewed of 53 published case reports from 2001 to 2011, the relationship with alcohol was also about 20% (10 out of 53 cases).[8]
WE is more likely to occur in males than females.[36] Among the minority who are diagnosed, mortality can reach 17%.[3] The main factors triggering death are thought to be infections and liver dysfunctions.[3]
## History[edit]
WE was first identified in 1881 by the German neurologist Carl Wernicke, although the link with thiamine was not identified until the 1930s. A similar presentation of this disease was described by the Russian psychiatrist Sergei Korsakoff in a series of articles published 1887–1891.[8]
## Children[edit]
* Infants and children. No one present clinical triad : infections, heart diseases, etc.[31]
* In children. infection on 22/36 cases, etc.[72]
* Difficulties in diagnosing, pediatric statistics.[72]
* Secondary microcephaly: poor transport of thiamine pyrophosphate.[73]
## References[edit]
1. ^ "MeSH Browser". meshb.nlm.nih.gov.
2. ^ a b c [unreliable medical source?]Sullivan EV, Fama R (June 2012). "Wernicke's encephalopathy and Korsakoff's syndrome revisited". Neuropsychology Review. 22 (2): 69–71. doi:10.1007/s11065-012-9205-2. PMC 4723427. PMID 22588370.
3. ^ a b c d e Ropper A, Brown R. Princ. of Neurology, Adams & Victor. 8º ed. McGraw Hill 2007.
4. ^ a b Cook CC (2000). "Prevention and treatment of Wernicke-Korsakoff syndrome". Alcohol and Alcoholism. 35 (Supplement 1): 19–20. doi:10.1093/alcalc/35.Supplement_1.19. PMID 11304070.
5. ^ a b c d e f g h i j k l m Galvin R, Bråthen G, Ivashynka A, Hillbom M, Tanasescu R, Leone MA (December 2010). "EFNS guidelines for diagnosis, therapy and prevention of Wernicke encephalopathy". European Journal of Neurology. 17 (12): 1408–18. doi:10.1111/j.1468-1331.2010.03153.x. PMID 20642790.
6. ^ Sechi, GianPietro; Serra, Alessandro (May 2007). "Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management". The Lancet Neurology. 6 (5): 442–455. doi:10.1016/s1474-4422(07)70104-7. ISSN 1474-4422.
7. ^ Isenberg-Grzeda E, Kutner HE, Nicolson SE (2012). "Wernicke-Korsakoff-syndrome: under-recognized and under-treated". Psychosomatics. 53 (6): 507–16. doi:10.1016/j.psym.2012.04.008. PMID 23157990.
8. ^ a b c d e f g h i j Lough ME (June 2012). "Wernicke's encephalopathy: expanding the diagnostic toolbox". Neuropsychology Review. 22 (2): 181–94. doi:10.1007/s11065-012-9200-7. PMID 22577001.
9. ^ a b c d Harper, CG; Giles, M; Finlay-Jones, R (April 1986). "Clinical signs in the Wernicke-Korsakoff complex: a retrospective analysis of 131 cases diagnosed at necropsy". Journal of Neurology, Neurosurgery, and Psychiatry. 49 (4): 341–5. doi:10.1136/jnnp.49.4.341. PMC 1028756. PMID 3701343.
10. ^ Mumford, C. J. (1989). "Papilloedema delaying diagnosis of Wernicke's encephalopathy in a comatose patient". Postgraduate Medical Journal. 65 (764): 371–3. doi:10.1136/pgmj.65.764.371. PMC 2429353. PMID 2608577.
11. ^ Chitra S, Lath KV (May 2012). "Wernicke's encephalopathy with visual loss in a patient with hyperemesis gravidarum". The Journal of the Association of Physicians of India. 60: 53–6. PMID 23029727.
12. ^ a b Truswell AS (June 2000). "Australian experience with the Wernicke-Korsakoff syndrome". Addiction. 95 (6): 829–32. doi:10.1046/j.1360-0443.2000.9568291.x. PMID 10946433.
13. ^ Flabeau O, Foubert-Samier A, Meissner W, Tison F (August 2008). "Hearing and seeing: Unusual early signs of Wernicke encephalopathy". Neurology. 71 (9): 694. doi:10.1212/01.wnl.0000324599.66359.b1. PMID 18725598.
14. ^ Jethava A, Dasanu CA (2012). "Acute Wernicke encephalopathy and sensorineural hearing loss complicating bariatric surgery". Connecticut Medicine. 76 (10): 603–5. PMID 23243762.
15. ^ a b c Tratado de Neurología, Codina Puiggros, pág. 823 y 824. ed.1994.
16. ^ Meierkord H, Boon P, Engelsen B, et al. (March 2010). "EFNS guideline on the management of status epilepticus in adults". European Journal of Neurology. 17 (3): 348–55. doi:10.1111/j.1468-1331.2009.02917.x. PMID 20050893.
17. ^ Kondo, K.; Fujiwara, M.; Murase, M.; Kodera, Y.; Akiyama, S.; Ito, K.; Takagi, H. (1996). "Severe Acute Metabolic Acidosis and Wernicke's Encephalopathy Following Chemotherapy with 5-Fluorouracil and Cisplatin: Case Report and Review of the Literature". Japanese Journal of Clinical Oncology. 26 (4): 234–6. doi:10.1093/oxfordjournals.jjco.a023220. PMID 8765181.
18. ^ Becker JT, Furman JM, Panisset M, Smith C (1990). "Characteristics of the memory loss of a patient with Wernicke-Korsakoff's syndrome without alcoholism". Neuropsychologia. 28 (2): 171–9. doi:10.1016/0028-3932(90)90099-A. PMID 2314572.
19. ^ Zhang G, Ding H, Chen H, et al. (January 2013). "Thiamine nutritional status and depressive symptoms are inversely associated among older Chinese adults". Journal of Nutrition. 143 (1): 53–8. doi:10.3945/jn.112.167007. PMC 3521461. PMID 23173173.
20. ^ Worden RW, Allen HM (2006). "Wernicke's encephalopathy after gastric bypass that masqueraded as acute psychosis: a case report". Current Surgery. 63 (2): 114–6. doi:10.1016/j.cursur.2005.06.004. PMID 16520112.
21. ^ Jiang W, Gagliardi JP, Raj YP, Silvertooth EJ, Christopher EJ, Krishnan KR (January 2006). "Acute psychotic disorder after gastric bypass surgery: differential diagnosis and treatment". American Journal of Psychiatry. 163 (1): 15–9. doi:10.1176/appi.ajp.163.1.15. PMID 16390883.
22. ^ Lindberg MC, Oyler RA (April 1990). "Wernicke's encephalopathy". American Family Physician. 41 (4): 1205–9. PMID 2181837.
23. ^ Mann MW, Degos JD (1987). "L'hypothermie dans l'encéphalopathie de Wernicke" [Hypothermia in Wernicke's encephalopathy]. Revue Neurologique (in French). 143 (10): 684–6. PMID 3423584. INIST:7514445.
24. ^ Rohkamm, Reinhard (2004). Color Atlas of Neurology. ISBN 978-1-58890-191-0.[page needed][failed verification]
25. ^ Biller José. The Interface of Neurology and Internal Medicine. 2008. Lippincott Williams & Wilkins Ed.[page needed]
26. ^ Rohkamm, Reinhard (2004). "Hemodynamic abnormalities". Color Atlas of Neurology. p. 148. ISBN 978-1-58890-191-0.
27. ^ Ishiko T, Taguchi T, Takeguchi M, Saito H, Nanri K (September 2009). "Wernicke脳症,亜急性連合性脊髄変性症,衝心脚気をきたしたビタミンB1,B12,葉酸欠乏症の1例" [Case of Wernicke's encephalopathy and subacute combined degeneration of the spinal cord due to vitamin deficiency showing changes in the bilateral corpus striatum and cardiac arrest due to beriberi heart disease]. Brain and Nerve (in Japanese). 61 (9): 1069–73. PMID 19803406.
28. ^ Harper C, Fornes P, Duyckaerts C, Lecomte D, Hauw JJ (March 1995). "An international perspective on the prevalence of the Wernicke-Korsakoff syndrome". Metabolic Brain Disease. 10 (1): 17–24. doi:10.1007/BF01991779. PMID 7596325.
29. ^ a b Zarranz, Juan J. (2007). Neurologia. (4a ed. ed.). Madrid, España: Harcourt Brace De Espana Sa. pp. 821 (Spanish.). ISBN 8480862289.
30. ^ a b Brown, Allan H. Ropper, Robert H. (2007). Principios de neurología de Adams y Victor (8a ed.). México: McGraw-Hill. pp. 1132 (Spanish.). ISBN 978-9701057070.
31. ^ a b Vasconcelos, M. M.; Silva, K. P.; Vidal, G.; Silva, A. F.; Domingues, R. C.; Berditchevsky, C. R. (1999). "Early diagnosis of pediatric Wernicke's encephalopathy". Pediatric Neurology. 20 (4): 289–294. doi:10.1016/s0887-8994(98)00153-2. PMID 10328278.
32. ^ Fattal-Valevski A, Kesler A, Sela BA, et al. (February 2005). "Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula". Pediatrics. 115 (2): e233–8. doi:10.1542/peds.2004-1255. PMID 15687431.
33. ^ a b Harrison’s Neurology in Clinical Medicine, 2º Edition, ISBN 978-0-07-174123-1
34. ^ a b c Mc.Phee & Papadakis. Current Medical Diagnosis & Treatment 2009, Forty-Eighth Edition.Lange.The McGraw-Hill Companies, Inc
35. ^ a b Merk Manuals.http://www.merckmanuals.com/professional/nutritional_disorders/vitamin_deficiency_dependency_and_toxicity/thiamin.html?qt=wernicke%20encephalopathy&alt=sh
36. ^ a b c d e f g h i j k l m n o Sechi G, Serra A (May 2007). "Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management". Lancet Neurology. 6 (5): 442–55. doi:10.1016/S1474-4422(07)70104-7. PMID 17434099.
37. ^ Wernicke Korsakoff’s syndrome. Page 48.http://www.alcohol.gov.au/internet/alcohol/publishing.nsf/Content/2C3FC9166082567DCA257260007F81F8/$File/alcprobguide.pdf
38. ^ Haberland, Catherine. Clinical neuropathology : text and color atlas / 2007 by Demos Medical Publishing/ page 200 / ISBN 978-1-888799-97-2
39. ^ a b c Thomson AD, Guerrini I, Marshall EJ (June 2012). "The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?". Neuropsychology Review. 22 (2): 81–92. doi:10.1007/s11065-012-9196-z. PMC 3545191. PMID 22569770.
40. ^ Goldman: Cecil Medicine, Chapter 443, 2007, 23rd ed. Saunders, Elsevier.
41. ^ a b c d e MedlinePlus Encyclopedia: Wernicke-Korsakoff syndrome
42. ^ L Ng Kv; Nguyễn LT (April 2013). "The role of thiamine in HIV infection". International Journal of Infectious Diseases. 17 (4): e221–7. doi:10.1016/j.ijid.2012.11.019. PMID 23274124.
43. ^ Rosen A, van Kuilenburg A, Assmann B, Kuhlen M, Borkhardt A (May 2011). "Severe encephalopathy, lactic acidosis, vegetative instability and neuropathy with 5-Fluorouracil treatment - pyrimidine degradation defect or beriberi?". Case Reports in Oncology. 4 (2): 371–6. doi:10.1159/000328803. PMC 3177792. PMID 21941485.
44. ^ Martin PR, Singleton CK, Hiller-Sturmhöfel S (2003). "The role of thiamine deficiency in alcoholic brain disease". Alcohol Research & Health. 27 (2): 134–42. PMC 6668887. PMID 15303623.
45. ^ Soukoulis V, Dihu JB, Sole M, et al. (October 2009). "Micronutrient deficiencies an unmet need in heart failure". Journal of the American College of Cardiology. 54 (18): 1660–73. doi:10.1016/j.jacc.2009.08.012. PMID 19850206.
46. ^ Lee JH, Jarreau T, Prasad A, Lavie C, O'Keefe J, Ventura H (2011). "Nutritional assessment in heart failure patients". Congestive Heart Failure. 17 (4): 199–203. doi:10.1111/j.1751-7133.2011.00239.x. PMID 21790970.
47. ^ Hirsch JA, Parrott J (2012). "New considerations on the neuromodulatory role of thiamine". Pharmacology. 89 (1–2): 111–6. doi:10.1159/000336339. PMID 22398704.
48. ^ Hazell AS (2009). "Astrocytes are a major target in thiamine deficiency and Wernicke's encephalopathy". Neurochemistry International. 55 (1–3): 129–35. doi:10.1016/j.neuint.2009.02.020. PMID 19428817.
49. ^ Hazell AS, Todd KG, Butterworth RF (June 1998). "Mechanisms of neuronal cell death in Wernicke's encephalopathy". Metabolic Brain Disease. 13 (2): 97–122. doi:10.1023/A:1020657129593. PMID 9699919.
50. ^ a b James S. Nelson, Hernando Mena & S. Schochet, Principles and Practice of Neuropathology, page 193, edited University of Hawaii,
51. ^ a b c Zuccoli G, Pipitone N (February 2009). "Neuroimaging findings in acute Wernicke's encephalopathy: review of the literature". American Journal of Roentgenology. 192 (2): 501–8. doi:10.2214/AJR.07.3959. PMID 19155417.
52. ^ Cernicchiaro, Luis. Enfermedad de Wernicke. Monitoring of an acute case for twelve years. http://enfermedad-de-wernicke.weebly.com/[self-published source?][unreliable medical source?]
53. ^ Rabow, edited by Stephen J. McPhee, Maxine A. Papadakis; associate editor, Michael W. (12 September 2011). Current medical diagnosis & treatment 2012 (51st ed.). New York: McGraw-Hill Medical. ISBN 978-0-07-176372-1.CS1 maint: extra text: authors list (link)[page needed]
54. ^ Caine, D; Halliday, G M; Kril, J J; Harper, C G (1 January 1997). "Operational criteria for the classification of chronic alcoholics: identification of Wernicke's encephalopathy". Journal of Neurology, Neurosurgery, and Psychiatry. 62 (1): 51–60. doi:10.1136/jnnp.62.1.51. PMC 486695. PMID 9010400.
55. ^ a b EAST KENT HOSPITALS NHS. TRUST PROTOCOL For: The management of the alcohol withdrawal syndrome and Wernicke encephalopathy.
56. ^ Hegde, AN; Mohan, S; Lath, N; Lim, CC (2011). "Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus". Radiographics. 31 (1): 5–30. doi:10.1148/rg.311105041. PMID 21257930.
57. ^ Guy´s and St. Thomas Hospitals http://www.guysandstthomas.nhs.uk/resources/our-services/acute-medicine-gi-surgery/elderly-care/alcohol-withdrawal-syndrome.pdf Doncaster and Bassetlaw Hospitals http://www.alcohollearningcentre.org.uk/_library/17__Doncaster_Guidelines_For_The_Management_Of_Patients_with_Alcohol_Misuse_In_The_Acute_General_Hospital_Setting.pdf
58. ^ Goldman: Cecil Medicine, chapter 443, 23rd ed. 2007. Saunders, Elsevier.
59. ^ Thomson, Cook et al. 2008
60. ^ Iwamoto Y, Okuda B, Miyata Y, Tachibana H, Sugita M (June 1994). "[Beneficial effect of steroid pulse therapy on Wernicke-Korsakoff syndrome due to hyperemesis gravidarum]". Rinsho Shinkeigaku. 34 (6): 599–601. PMID 7955722.
61. ^ Warot P, Lesage R, Dupuys P (February 1962). "[Corticotherapy of the severe forms of the Gayet-Wernicke encephalopathy]". Lille Medical. 7: 123–4. PMID 14005025.CS1 maint: multiple names: authors list (link)
62. ^ Zarranz, Juan J. (2007). Neurologia (4a ed.). Madrid, España: Harcourt Brace De Espana Sa. pp. 821 (Spanish.). ISBN 978-8480862288.
63. ^ Harrison, Medicina Interna, pág. 2462 ed.2002
64. ^ Kelley, Medicina Interna, pág. 621, 974 ed.1990
65. ^ a b Thomson AD, Cook CC, Touquet R, Henry JA (2002). "The Royal College of Physicians report on alcohol: guidelines for managing Wernicke's encephalopathy in the accident and Emergency Department". Alcohol and Alcoholism. 37 (6): 513–21. doi:10.1093/alcalc/37.6.513. PMID 12414541.
66. ^ Lourenço R, Camilo ME (2002). "Taurine: a conditionally essential amino acid in humans? An overview in health and disease" (PDF). Nutrición Hospitalaria. 17 (6): 262–70. PMID 12514918.
67. ^ Iwamoto Y, Okuda B, Miyata Y, Tachibana H, Sugita M (June 1994). "[Beneficial effect of steroid pulse therapy on Wernicke-Korsakoff syndrome due to hyperemesis gravidarum]". Rinsho Shinkeigaku (in Japanese). 34 (6): 599–601. PMID 7955722.
68. ^ Torvik A, Lindboe CF, Rodge S. Brain lesions in alcoholics. A neuropathological study with clinical correlations. J Neurol Sci 1982; 56: 233-48.
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73. ^ Passemard, S.; Kaindl, A. M.; Verloes, A. (2013). "Microcephaly". Pediatric Neurology Part I. Handbook of Clinical Neurology. 111. pp. 129–141. doi:10.1016/B978-0-444-52891-9.00013-0. ISBN 9780444528919. PMID 23622158.
## External links[edit]
Classification
D
* ICD-10: E51.2 \+ G32.8
* ICD-9-CM: 291.1
* MeSH: D014899
* DiseasesDB: 14107
* v
* t
* e
Malnutrition
Protein-energy
malnutrition
* Kwashiorkor
* Marasmus
* Catabolysis
Vitamin deficiency
B vitamins
* B1
* Beriberi
* Wernicke–Korsakoff syndrome
* Wernicke's encephalopathy
* Korsakoff's syndrome
* B2
* Riboflavin deficiency
* B3
* Pellagra
* B6
* Pyridoxine deficiency
* B7
* Biotin deficiency
* B9
* Folate deficiency
* B12
* Vitamin B12 deficiency
Other
* A: Vitamin A deficiency
* Bitot's spots
* C: Scurvy
* D: Vitamin D deficiency
* Rickets
* Osteomalacia
* Harrison's groove
* E: Vitamin E deficiency
* K: Vitamin K deficiency
Mineral deficiency
* Sodium
* Potassium
* Magnesium
* Calcium
* Iron
* Zinc
* Manganese
* Copper
* Iodine
* Chromium
* Molybdenum
* Selenium
* Keshan disease
Growth
* Delayed milestone
* Failure to thrive
* Short stature
* Idiopathic
General
* Anorexia
* Weight loss
* Cachexia
* Underweight
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Wernicke encephalopathy | c0043121 | 28,490 | wikipedia | https://en.wikipedia.org/wiki/Wernicke_encephalopathy | 2021-01-18T19:01:35 | {"mesh": ["D014899"], "umls": ["C0043121"], "icd-9": ["291.1"], "wikidata": ["Q1573307"]} |
A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Testicular teratoma | c0238451 | 28,491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363483 | 2021-01-23T17:42:29 | {"mesh": ["C562472"], "omim": ["273300"], "umls": ["C0238451"], "icd-10": ["C62.9"], "synonyms": ["Teratoma of the testis"]} |
Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Left ventricular noncompaction | c1960469 | 28,492 | gard | https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction | 2021-01-18T17:59:29 | {"orphanet": ["54260"], "synonyms": ["LVNC", "Spongy myocardium", "Left ventricular hypertrabeculation"]} |
Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.
## Epidemiology
The syndrome was first described in 1979 in three consanguineous families. To date, about 20 patients have been reported in the literature.
## Clinical description
It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. ES hair samples show irregular clumps of melanin under the microscope and skin melanocytes contain many irregularly shaped melanosomes with an incomplete transfer-block towards surrounding keratinocytes. Ultrastructurally, abnormal inclusion bodies are observed in fibroblasts, bone marrow histiocytes and lymphocytes.
## Etiology
The etiology of ES is still unknown, but recent molecular data have shed light on the complex relationship that exists between ES and the Griscelli syndrome (see this term). Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1, characterized by cutaneous and neurologic manifestations. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to ES.
## Differential diagnosis
The main differential diagnoses are Griscelli syndrome type 2 (caused by mutations in RAB27A), which is characterized by cutaneous and immunological manifestations, without primary neurological signs; Griscelli syndrome type 3, which has only cutaneous hypopigmentation as a feature and is caused by mutations in MLPH; and Chediak-Higashi syndrome (see this term), also characterized by silvery hair, and by oculocutaneous hypopigmentation. It can lead to death by infection and/or lymphoma-like organ infiltration (so-called accelerated phases), and is caused by mutations in the LYST gene.
## Management and treatment
Treatment for ES remains limited: corticosteroids, anticonvulsants and antipyretics fail to prevent early death from severe neurologic dysfunction.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Neuroectodermal melanolysosomal disease | c1860157 | 28,493 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33445 | 2021-01-23T18:51:18 | {"mesh": ["C536203"], "omim": ["256710"], "umls": ["C1860157"], "icd-10": ["L81.4"], "synonyms": ["Elejalde disease"]} |
For other uses, see Gangrene (disambiguation).
Look up gangrene or festering in Wiktionary, the free dictionary.
Gangrene
Other namesGangrenous necrosis
Dry gangrene affecting the toes as a result of peripheral artery disease
SpecialtyInfectious disease, surgery
SymptomsChange in skin color to red or black, numbness, pain, skin breakdown, coolness[1]
ComplicationsSepsis, amputation[1][2]
TypesDry, wet, gas, internal, necrotizing fasciitis[3]
Risk factorsDiabetes, peripheral arterial disease, smoking, major trauma, alcoholism, plague, HIV/AIDS, frostbite, Raynaud's syndrome[3][4]
Diagnostic methodBased on symptom, With medical imaging used to identify the underlying cause
TreatmentDepends on underlying cause[5]
PrognosisVariable
FrequencyUnknown[2]
Gangrene is a type of tissue death caused by a lack of blood supply.[4] Symptoms may include a change in skin color to red or black, numbness, swelling, pain, skin breakdown, and coolness.[1] The feet and hands are most commonly affected.[1] If the gangrene is caused by an infectious agent it may present with a fever or sepsis.[1]
Risk factors include diabetes, peripheral arterial disease, smoking, major trauma, alcoholism, HIV/AIDS, frostbite, influenza, COVID-19, dengue fever, plague and Raynaud's syndrome.[3][4] It can be classified as dry gangrene, wet gangrene, gas gangrene, internal gangrene, and necrotizing fasciitis.[3] The diagnosis of gangrene is based on symptoms and supported by tests such as medical imaging.[6]
Treatment may involve surgery to remove the dead tissue, antibiotics to treat any infection, and efforts to address the underlying cause.[5] Surgical efforts may include debridement, amputation, or the use of maggot therapy.[5] Efforts to treat the underlying cause may include bypass surgery or angioplasty.[5] In certain cases, hyperbaric oxygen therapy may be useful.[5] How commonly the condition occurs is unknown.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Dry gangrene
* 2.2 Wet gangrene
* 2.3 Gas gangrene
* 2.4 Other types
* 3 Treatment
* 3.1 Lifestyle
* 3.2 Medication
* 3.3 Surgery
* 3.4 Other
* 4 History
* 5 Etymology
* 6 References
* 7 External links
## Signs and symptoms[edit]
An illustration showing four different stages of gangrene, including one (Fig. 4 top right) caused by an obstacle to the return of the venous blood due to heart disease.
Symptoms may include a change in skin color to red or black, numbness, pain, skin breakdown, and coolness.[1] The feet and hands are most commonly involved.[1]
## Causes[edit]
Gangrene is caused by a critically insufficient blood supply (e.g., peripheral vascular disease) or infection.[3][7][8] It is associated with diabetes[9] and long-term tobacco smoking.[4][3]
### Dry gangrene[edit]
Dry gangrene is a form of coagulative necrosis that develops in ischemic tissue, where the blood supply is inadequate to keep tissue viable. It is not a disease itself, but a symptom of other diseases.[10] The term dry is used only when referring to a limb or to the gut (in other locations, this same type of necrosis is called an infarction, such as myocardial infarction).[11] Dry gangrene is often due to peripheral artery disease, but can be due to acute limb ischemia. As a result, people with arteriosclerosis, high cholesterol, diabetes and smokers commonly have dry gangrene.[12] The limited oxygen in the ischemic limb limits putrefaction and bacteria fail to survive. The affected part is dry, shrunken, and dark reddish-black. The line of separation usually brings about complete separation, with eventual falling off of the gangrenous tissue if it is not removed surgically, a process called autoamputation.[12]
Dry gangrene is the end result of chronic ischemia without infection. If ischemia is detected early, when ischemic wounds rather than gangrene are present, the process can be treated by revascularization (via vascular bypass or angioplasty).[13] However, once gangrene has developed, the affected tissues are not salvageable.[14] Because dry gangrene is not accompanied by infection, it is not as emergent as gas gangrene or wet gangrene, both of which have a risk of sepsis. Over time, dry gangrene may develop into wet gangrene if an infection develops in the dead tissues.[15]
Diabetes mellitus is a risk factor for peripheral vascular disease, thus for dry gangrene, but also a risk factor for wet gangrene, particularly in patients with poorly controlled blood sugar levels, as elevated serum glucose creates a favorable environment for bacterial infection.[16]
### Wet gangrene[edit]
Wet gangrene of the foot
Wet, or infected, gangrene is characterized by thriving bacteria and has a poor prognosis (compared to dry gangrene) due to sepsis resulting from the free communication between infected fluid and circulatory fluid. In wet gangrene, the tissue is infected by saprogenic microorganisms (Clostridium perfringens or Bacillus fusiformis, for example), which cause tissue to swell and emit a foul odor. Wet gangrene usually develops rapidly due to blockage of venous (mainly) or arterial blood flow.[12] The affected part is saturated with stagnant blood, which promotes the rapid growth of bacteria. The toxic products formed by bacteria are absorbed, causing systemic manifestation of sepsis and finally death. The affected part is edematous, soft, putrid, rotten, and dark.
Because of the high mortality associated with infected gangrene (about 80% without treatment and 20% with treatment), an emergency salvage amputation, such as a guillotine amputation, is often needed to limit systemic effects of the infection.[17] Such an amputation can be converted to a formal amputation, such as a below- or above-knee amputation.[17]
### Gas gangrene[edit]
Main article: Gas gangrene
Gas gangrene is a bacterial infection that produces gas within tissues. It can be caused by Clostridium, most commonly alpha toxin-producing C. perfringens, or various nonclostridial species.[8][18] Infection spreads rapidly as the gases produced by the bacteria expand and infiltrate healthy tissue in the vicinity. Because of its ability to quickly spread to surrounding tissues, gas gangrene should be treated as a medical emergency, this is the most fatal form of gangrene, it is highly fatal, even with treatment (50%), which can be 100% if left untreated.
Gas gangrene is caused by bacterial exotoxin-producing clostridial species, which are mostly found in soil, and other anaerobes such as Bacteroides and anaerobic streptococci. These environmental bacteria may enter the muscle through a wound and subsequently proliferate in necrotic tissue and secrete powerful toxins, which destroy nearby tissue, generating gas at the same time. A gas composition of 5.9% hydrogen, 3.4% carbon dioxide, 74.5% nitrogen, and 16.1% oxygen was reported in one clinical case.[19]
Gas gangrene can cause necrosis, gas production, and sepsis. Progression to toxemia and shock is often very rapid.
### Other types[edit]
* Necrotizing fasciitis, also known as hemolytic streptococcal gangrene, is a very rare infection that spreads deep into the body along tissue planes. It is characterized by infection with S.pyogenes, a gram-positive cocci bacteria.[20]
* Noma is a gangrene of the face common in Africa and Asia, with 99% of cases occurring there, whereas the disease is practically non-existent in other continents.
* Fournier gangrene is a type of necrotizing fasciitis that usually affects the genitals and groin.[21]
* Venous limb gangrene may be caused by heparin-induced thrombocytopenia and thrombosis.[22]
* Severe mesenteric ischemia may result in gangrene of the small intestine.
* Severe ischemic colitis may result in gangrene of the large intestine.
## Treatment[edit]
Treatment varies based on the severity and type of gangrene.[12]
### Lifestyle[edit]
Exercises such as walking and massage therapy may be tried.[12]
### Medication[edit]
Medications may include pain management, medications that promote circulation in the circulatory system and antibiotics. Since gangrene is associated with periodic pain caused by too little blood flow, pain management is important so patients can continue doing exercises that promote circulation. Pain management medications can include opioids and opioid-like analgesics. Since gangrene is a result of ischemia, circulatory system management is important. These medications can include antiplatelet drug, anticoagulant, and fibrinolytics. As infection is often associated with gangrene, antibiotics are often a critical component of its treatment. The life-threatening nature of gangrene requires treatment with intravenous antibiotics in an inpatient setting.[12] Antibiotics alone are not effective because they may not penetrate infected tissues sufficiently.[23]
### Surgery[edit]
Surgical removal of all dead tissue, however, is the mainstay of treatment for gangrene. Often, gangrene is associated with underlying infection, thus the gangrenous tissue must be debrided to hinder the spread of the associated infection. The extent of surgical debridement needed depends on the extent of the gangrene, and may be limited to the removal of a finger, toe, or ear, but in severe cases may involve a limb amputation.[12]
Dead tissue alone does not require debridement, and in some cases, such as dry gangrene, the affected part falls off (autoamputates), making surgical removal unnecessary. Waiting for autoamputation however may cause health complications as well as decreased quality of life.[12]
After the gangrene is treated with debridement and antibiotics, the underlying cause can be treated. In the case of gangrene due to critical limb ischemia, revascularization can be performed to treat the underlying peripheral artery disease.
Ischemic disease of the legs is the most common reason for amputations. In about a quarter of these cases, the other side requires amputation in the next three years.[24]
Angioplasty should be considered if severe blockage in lower leg vessels (tibial and peroneal artery) leads to gangrene.[25]
### Other[edit]
Hyperbaric oxygen therapy treatment is used to treat gas gangrene. It increases pressure and oxygen content to allow blood to carry more oxygen to inhibit anaerobic organism growth and reproduction.[26]
## History[edit]
Confederate Army Private Milton E. Wallen lies in bed with a gangrenous amputated arm
As early as 1028, flies and maggots were commonly used to treat chronic wounds or ulcers to prevent or arrest necrotic spread,[27] as some species of maggots consume only dead flesh, leaving nearby living tissue unaffected. This practice largely died out after the introduction of antibiotics, acetonitrile,[citation needed] and enzyme to the range of treatments for wounds. In recent times, however, maggot therapy has regained some credibility and is sometimes employed with great efficacy in cases of chronic tissue necrosis.[citation needed]
The French Baroque composer Jean-Baptiste Lully contracted gangrene in January 1687 when, while conducting a performance of his Te Deum, he stabbed his own toe with his pointed staff (which was used as a baton). The disease spread to his leg, but the composer refused to have his toe amputated, which eventually led to his death in March of that year.[28]
French King Louis XIV died of gangrene in his leg on 1 September 1715, four days prior to his 77th birthday.[29]
John M. Trombold wrote: "Middleton Goldsmith, a surgeon in the Union Army during the American Civil War, meticulously studied hospital gangrene and developed a revolutionary treatment regimen. The cumulative Civil War hospital gangrene mortality was 45%. Goldsmith's method, which he applied to over 330 cases, yielded a mortality under 3%."[30] Goldsmith advocated the use of debridement and topical and injected bromide solutions on infected wounds to reduce the incidence and virulence of "poisoned miasma". Copies of his book[31] were issued to Union surgeons to encourage the use of his methods.[32] Father Camille Bulcke also died of gangrene on 17 August 1982.
## Etymology[edit]
The etymology of gangrene derives from the Latin word gangraena and from the Greek gangraina (γάγγραινα), which means "putrefaction of tissues".[33] It has no etymological connection with the word green, despite the affected areas turning black, green, or yellowish brown.
## References[edit]
1. ^ a b c d e f g "Gangrene Symptoms". NHS. 13 October 2015. Retrieved 12 December 2017.
2. ^ a b c "Gangrene". patient.info. 12 March 2014. Retrieved 12 December 2017.
3. ^ a b c d e f "Gangrene Causes". NHS. 13 October 2015. Retrieved 12 December 2017.
4. ^ a b c d "Gangrene". NHS. 13 October 2015. Retrieved 12 December 2017.
5. ^ a b c d e "Gangrene Treatment". NHS. Retrieved 12 December 2017.
6. ^ "Gangrene Diagnosis". NHS. 13 October 2015. Retrieved 12 December 2017.
7. ^ Gardner, AW; Afaq, A (November–December 2008). "Management of lower extremity peripheral arterial disease". Journal of Cardiopulmonary Rehabilitation and Prevention. 28 (6): 349–57. doi:10.1097/HCR.0b013e31818c3b96. PMC 2743684. PMID 19008688.
8. ^ a b Yang, Z; Hu, J; Qu, Y; Sun, F; Leng, X; Li, H; Zhan, S (3 December 2015). "Interventions for treating gas gangrene". The Cochrane Database of Systematic Reviews (12): CD010577. doi:10.1002/14651858.CD010577.pub2. PMID 26631369.
9. ^ Korzon-Burakowska, A; Dziemidok, P (December 2011). "Diabetic foot-the need for comprehensive multidisciplinary approach". Annals of Agricultural and Environmental Medicine. 18 (2): 314–17. PMID 22216805.
10. ^ Smith, Tyler (2015). Gangrene Management: Today and Tomorrow. Hayle Medical. ISBN 978-1632412232.[page needed]
11. ^ Cross, Simon (2018). Underwood's Pathology: A Clinical Approach (7th ed.). Elsevier Health Sciences. p. 124. ISBN 9780702072109. Retrieved 8 April 2020.
12. ^ a b c d e f g h Al Wahbi, Abdullah (2018-06-01). "Autoamputation of diabetic toe with dry gangrene: a myth or a fact?". Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy. 11: 255–264. doi:10.2147/DMSO.S164199. ISSN 1178-7007. PMC 5987754. PMID 29910628.
13. ^ Aiello A, Anichini R, Brocco E, Caravaggi C, Chiavetta A, Cioni R, Da Ros R, De Feo ME, Ferraresi R, Florio F, Gargiulo M, Galzerano G, Gandini R, Giurato L, Graziani L, Mancini L, Manzi M, Modugno P, Setacci C, Uccioli L (2014). "Treatment of peripheral arterial disease in diabetes: a consensus of the Italian Societies of Diabetes (SID, AMD), Radiology (SIRM) and Vascular Endovascular Surgery (SICVE)". Nutr Metab Cardiovasc Dis. 24 (4): 355–69. doi:10.1016/j.numecd.2013.12.007. PMID 24486336.
14. ^ Gerhard-Herman, MD; Gornik, HL; Barrett, C; Barshes, NR; Corriere, MA; Drachman, DE; Fleisher, LA; Fowkes, FG; Hamburg, NM; Kinlay, S; Lookstein, R; Misra, S; Mureebe, L; Olin, JW; Patel, RA; Regensteiner, JG; Schanzer, A; Shishehbor, MH; Stewart, KJ; Treat-Jacobson, D; Walsh, ME (2017). "2016 AHA/ACC Guideline on the Management of Patients With Lower Extremity Peripheral Artery Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines". Circulation. 135 (12): e726–79. doi:10.1161/CIR.0000000000000471. PMC 5477786. PMID 27840333.
15. ^ Nather, Aziz (2013). The diabetic foot. ISBN 978-9814417006.
16. ^ Vayvada, H; Demirdover, C; Menderes, A; Karaca, C (August 2013). "Necrotising fasciitis in the central part of the body: diagnosis, management and review of the literature". International Wound Journal. 10 (4): 466–72. doi:10.1111/j.1742-481x.2012.01006.x. PMID 22694053.
17. ^ a b Tisi, PV; Than, MM (8 April 2014). "Type of incision for below knee amputation". The Cochrane Database of Systematic Reviews. 4 (4): CD003749. doi:10.1002/14651858.CD003749.pub3. PMC 7154343. PMID 24715679.
18. ^ Sakurai, J.; Nagahama, M.; Oda, M. (November 2004). "Clostridium perfringens alpha-toxin: characterization and mode of action". Journal of Biochemistry. 136 (5): 569–74. doi:10.1093/jb/mvh161. PMID 15632295. S2CID 12940936.
19. ^ Chi CH, Chen KW, Huang JJ, Chuang YC, Wu MH (December 1995). "Gas composition in Clostridium septicum gas gangrene". Journal of the Formosan Medical Association. 94 (12): 757–59. PMID 8541740.
20. ^ "For Clinicians: Type II Necrotizing Fasciitis | CDC". www.cdc.gov. 2019-02-21. Retrieved 2019-08-05.
21. ^ Levenson, RB; Singh, AK; Novelline, RA (March–April 2008). "Fournier gangrene: role of imaging". Radiographics. 28 (2): 519–28. doi:10.1148/rg.282075048. PMID 18349455.
22. ^ Warkentin, TE (August 2010). "Agents for the treatment of heparin-induced thrombocytopenia". Hematology/Oncology Clinics of North America. 24 (4): 755–75. doi:10.1016/j.hoc.2010.05.009. PMID 20659659.
23. ^ Lipsky BA (December 1999). "Evidence-based antibiotic therapy of diabetic foot infections". FEMS Immunol. Med. Microbiol. 26 (3–4): 267–76. doi:10.1016/s0928-8244(99)00143-1. PMID 10575138.
24. ^ Amputations of the Lower Extremity at eMedicine
25. ^ "Angioplasty and stent placement – peripheral arteries". Retrieved July 24, 2013.
26. ^ Liu R, Li L, Yang M, Boden G, Yang G (2013). "Systematic review of the effectiveness of hyperbaric oxygenation therapy in the management of chronic diabetic foot ulcers". Mayo Clin. Proc. 88 (2): 166–75. doi:10.1016/j.mayocp.2012.10.021. PMID 23374620.
27. ^ Shi, Eric; Shofler, David (2014). "Maggot debridement therapy: A systematic review". British Journal of Community Nursing. 19: S6–S13. doi:10.12968/bjcn.2014.19.Sup12.S6. PMID 25478859.
28. ^ "Music Trivia – The Death of Lully". The Musician's Lounge. Utah Symphony Orchestra. August 2010. Retrieved March 7, 2017.
29. ^ Laurenson, John (21 November 2015). "The strange death of Louis XIV". The Spectator. Retrieved 12 March 2017.
30. ^ Trombold JM (2011). "Gangrene therapy and antisepsis before lister: the civil war contributions of Middleton Goldsmith of Louisville". Am Surg. 77 (9): 1138–43. PMID 21944621.
31. ^ A report on hospital gangrene, erysipelas and pyaemia. 1863
32. ^ Watson, Dr. Scott. "Hospital Gangrene During The Civil War – Civil War Medicine". Retrieved 2014-04-15.
33. ^ Liddell & Scott's Lexicon, Oxford University Press, 1963 edition
## External links[edit]
Classification
D
* ICD-10: R02, I70.2, E10.2, I73.9
* ICD-9-CM: 040.0, 785.4
* MeSH: D005734
* DiseasesDB: 19273
* SNOMED CT: 372070002
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* eMedicine: article/217943 article/782709 article/214992 article/438994 article/2028899 article/2051157
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
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*[SERT]: Serotonin transporter
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*[DDD]: degenerative disc disease
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*[E2]: estradiol
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gangrene | c0017086 | 28,494 | wikipedia | https://en.wikipedia.org/wiki/Gangrene | 2021-01-18T18:51:50 | {"mesh": ["D005734"], "umls": ["C0017086"], "icd-9": ["785.4", "040.0"], "icd-10": ["I73.9", "E10.2", "R02", "I70.2"], "wikidata": ["Q168805"]} |
Quartan Fever
P. malariae
SpecialtyInfectious disease
SymptomsFever,
DurationFever in 72 hour intervals
CausesPlasmodium spread by mosquitos
Diagnostic methodBlood tests
MedicationChloroquine
Quartan fever is one of the four types of malaria which can be contracted by humans.[1][page needed]
It is specifically caused by the Plasmodium malariae species, one of the six species of the protozoan genus Plasmodium. Quartan fever is a form of malaria where an onset of fever occurs in an interval of three-four days, hence the name "quartan."[2] It is transmitted by bites of infected female mosquitoes of the genus Anopheles. Symptoms include fevers which range from approximately 40–41°C and occur periodically in 72 hour intervals. Although cases of Malaria have occurred throughout the world, quartan fever typically occurs in sub-tropic regions. Quartan fever is considered to be a less severe form of malaria fever can be cured by anti-malarial treatments and prevention methods can be taken in order to avoid infection.[1]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Medical procedures that diagnose a patient with quartan fever
* 4 Treatment
* 5 Prevention
* 6 References
## Cause[edit]
Main article: Plasmodium malariae
The female Anopheles mosquito is a vector which transmits quartan fever to people. Mature mosquitoes carry uninucleate sporozoites in their salivary glands, these sporozoites enter a human's bloodstream when mosquitoes puncture human flesh during feeding. Sporozoites attack and inhabit liver parenchymal cells in order to develop. Once the uninucleate sporozoites have matured the sporozoites then develop into uninucleate merozoites. Uninucleated merozoites mature into an erythrocytic stage schizonts which contain merozoites. The schizonts then rupture to release these merozoites; leading to more infections in the red blood cells. Uninucleated merozoites can also mature into uninucleate gametocytes which can invade and infect other female Anopheles mosquitoes during feeding, thus spreading the disease onto a wider population of humans.[1]
Play media
Anopheles Mosquito feeding (video taken County Durham, UK.)
## Diagnosis[edit]
Fevers in intervals of 72 hours distinguish quartan fever from other forms of malaria where fevers range in 48 hour intervals or fever spikes happen sporadically.[1]
Early indications of catching quartan fever include having irritated spots, welts, hives, burning skin, however this is dependent on individual's tolerance to mosquito bites and may not show up on some people. With anopheles malaria mosquitoes the welts are most likely to not appear unless there are severe allergic reactions.[3]
The prepatent period is the time interval for when parasites are detected on a thick blood film. For quartan fever, P. malariae has a prepatent period ranging from 16-59 days. Specifically in the case of quartan fever, the rupturing of liver stage schizonts releases merozoites. This stage of the P. malariae life cycle is known as the "ring stages" and are the first stages which can be detected in human blood for diagnosis.[4]
## Medical procedures that diagnose a patient with quartan fever[edit]
* Blood smears can be used to detect the parasites within red blood cells, thick blood smears are typically used initially to detect the parasites, then it is followed by thin blood smears which can detect the parasites as the morphology of erythrocytes is maintained through the process.[5]
* Peripheral blood films stained with Giemsa strain are a method of blood examination used to diagnose the presence of Plasmodium malariae, and detect quartan fever.[4]
* Rapid diagnostic tests can detect antigens which cause malaria, a sample of blood is collected from the patient and placed on a test card. After 15-20 minutes bands show up on the test card which indicate the specific species of malaria the patient is infected with.[5]
* Serological tests are used in general to detect whether a patient has developed antibodies to specific microorganism,[6] therefore Serological tests are used to detect past encounters with Plasmodium virus rather than cases where a patient has newly come in contain/has been infected with P. malariae and has quartan fever.[5]
* Polymerase chain reactions (PCR) are used to diagnosis Plasmodium malariae (cause of quartan fever) as well to separate mixed infections.[4]
## Treatment[edit]
* Chloroquine is administered in the form of a tablet for ingestion. [7]
* Chloroquine is a water-soluble drug which is used to treat quartan fever. Chloroquine a suppressive drug which is ingested in a compressed tablet form and is mainly absorbed by the gastrointestinal tract.[7]
* Hydrochloroquine is also a suppressive, anit-malarial agent used to treat quartan fever. Hydrochloroquine is also typically administered to patients suffering from lupus flares.
* Both hydrochloroquine and chloroquine have a side effect of retinal toxicity when administered to infected patients.[8]
* Adverse effects of the drug chloroquine include agitation, anxiety, confusion, Gastrointestinal discomfort,[8] blurring vision, and/or irreversible retinal damage.
* Sulfadoxine-pyrimethamine (SP) is administered to pregnant women during the gestation period. Two-three doses of SP has been proven to reduce the levels of placental malaria and had a reduced risk of moderate to severe anemia.[9]
## Prevention[edit]
Ways to minimise exposure to the Anopheles mosquito include:
* Indoor residual sprays are one of the most utilised methods of malaria prevention by the Global Malaria Eradication Campaign. Spraying is a method in multiple regions and to control epidemics.[10]
* Nets treated with insecticide are effective in preventing mosquito contact for three years. The World Health Organisation (WHO) specifically targets younger children and pregnant women in order to reduce the risk of spreading Quartan fever within the population. [10]
* Sulfadoxine-pyrimethamine (SP) administration to pregnant women is also a source of prevention in order to reduce the risks of maternal anaemia, low birth rate, and perinatal mortality. SP reduces the impact Quartan fever may have on newborns and decrease the morality rate. This method of prevention is known as "chemoprevention." [9]
Play media
Anopheles mosquito larvae, taken by Steffen Dietzel
* House improvement is also a method of prevention. Traditional houses consisting of natural materials are susceptible to gaps which allow entry to infected Anopheles mosquitoes. House improvements including windows, installation and sealed doors reduce the risk of coming in contact with the infected mosquitoes. [10]
* Larval source management is the control and monitoring of aquatic environments in order to prevent fully Anopheles mosquitoes from fully developing.[10] Mosquitoes require aquatic environments in order to fully mature and develop. Once mosquito eggs hatch, the larva must live in the water and develop into pupa. The pupa stage then matures into a fully developed mosquito and emerges from its aquatic habitat. When removing any water-filled containers from the surrounding area the mosquito life cycle is halted and acts as a method to reduce mosquito population within the surrounding area.[11]
* Clothing can act as a physical barrier to prevent exposure of flesh for mosquitoes to feed on, treating beds and clothing with insecticides/repellents can further reduce chances of infected mosquitoes from biting and passing quartan fever to individuals.[10]
* Avoiding areas which have high mosquito populations, specifically for quartan fever the P. malariae strain.[10]
* Avoiding travelling to regions which have a sub-tropic climate to prevent infection and developing quartan fever.[10]
* Implementing the sugar baiting method aids in reducing the population of Anopheles mosquitoes, and ultimately reducing the likelihood of catching quartan fever. Both male and female mosquitoes feed on the Attractive toxic sugar bait (ATSB) and ingest low-risk oral toxins e.g. boric acid. This leads to mosquito death and reduces population.[12]
## References[edit]
1. ^ a b c d Crutcher, James M. (1996). Medical Microbiology. 4th edition. Galveston: The University of Texas Medical Branch at Galveston.
2. ^ "quartan". English Oxford living Dictionaries. 2019. Retrieved 29 March 2019.
3. ^ "Insect Bite Prevention". IAMAT. 25 January 2019. Retrieved 13 May 2019.
4. ^ a b c Collins, William E. (2007). "Plasmodium malariae: Parasite and Disease". Clinical Microbiology Reviews. 20 (4): 579–592. doi:10.1128/CMR.00027-07. PMC 2176047. PMID 17934075.
5. ^ a b c "Rapid Diagnostic Tests: How They Work". CDC. 2018. Retrieved 9 May 2019.
6. ^ "AIDS info". HIV/AIDS Glossary. Retrieved 9 May 2019.
7. ^ a b "LABEL: CHLOROQUINE- chloroquine phosphate tablet". DAILY MED. 8 July 2010. Retrieved 10 May 2019.
8. ^ a b "Malaria". 2019. Retrieved 10 May 2019.
9. ^ a b Kayentao, K (23 February 2012). "Intermittent preventive therapy for malaria during pregnancy using 2 vs 3 or more doses of sulfadoxine-pyrimethamine and risk of low birth weight in Africa: systematic review and meta-analysis". JAMA. 309 (6): 594–604. doi:10.1001/jama.2012.216231. PMC 4669677. PMID 23403684.
10. ^ a b c d e f g Tizifa, Tinashe A (8 February 2018). "Prevention Efforts for Malaria". Current Tropical Medicine Reports. 5 (1): 41–50. doi:10.1007/s40475-018-0133-y. PMC 5879044. PMID 29629252.
11. ^ "Mosquito Life Cycle". EPA. 13 March 2017. Retrieved 3 May 2019.
12. ^ C Beier, John (1 February 2012). "Attractive toxic sugar bait (ATSB) methods decimate populations of Anopheles malaria vectors in arid environments regardless of the local availability of favoured sugar-source blossoms". Malaria Journal. 11: 31. doi:10.1186/1475-2875-11-31. PMC 3293779. PMID 22297155.
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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
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*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Quartan fever | c0424775 | 28,495 | wikipedia | https://en.wikipedia.org/wiki/Quartan_fever | 2021-01-18T18:54:02 | {"umls": ["C0424775", "C0024536"], "wikidata": ["Q18554742"]} |
Humoral immune deficiency
B cells and antibody
SpecialtyHematology
SymptomsSinusitis[1]
CausesAbsent B cells(primary),[2][3] Multiple myeloma(secondary)[4]
Diagnostic methodB cell count, Family medical history[5][6]
TreatmentImmunoglobulin replacement therapy[5]
Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to immunodeficiency. It can be mediated by insufficient number or function of B cells, the plasma cells they differentiate into, or the antibody secreted by the plasma cells.[7] The most common such immunodeficiency is inherited selective IgA deficiency, occurring between 1 in 100 and 1 in 1000 persons, depending on population. They are associated with increased vulnerability to infection, but can be difficult to detect (or asymptomatic) in the absence of infection.[citation needed]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Signs/symptoms of humoral immune deficiency depend on the cause, but generally include signs of infection such as:[1]
* Sinusitis
* Sepsis
* Skin infection
* Pneumonia
## Causes[edit]
Cause of this deficiency is divided into primary and secondary:
* Primary the International Union of Immunological Societies classifies primary immune deficiencies of the humoral system as follows:[3][2]
Hyper-IgM syndromes(immunoglobulin M)
* Absent B cells with a resultant severe reduction of all types of antibody: X-linked agammaglobulinemia (btk deficiency, or Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with immunodeficiency
* B cells low but present, but with reduction in 2 or more isotypes (usually IgG & IgA, sometimes IgM): common variable immunodeficiency (CVID), ICOS deficiency, CD19 deficiency, TACI (TNFRSF13B) deficiency, BAFF receptor deficiency.
* Normal numbers of B cells with decreased IgG and IgA and increased IgM: Hyper-IgM syndromes
* Normal numbers of B cells with isotype or light chain deficiencies: heavy chain deletions, kappa chain deficiency, isolated IgG subclass deficiency, IgA with IgG subsclass deficiency, selective immunoglobulin A deficiency
* Transient hypogammaglobulinemia of infancy (THI)
* Secondary secondary (or acquired) forms of humoral immune deficiency are mainly due to hematopoietic malignancies and infections that disrupt the immune system:[4]
* Multiple myeloma
* Chronic lymphoid leukemia
* AIDS
## Diagnosis[edit]
Human B cell
In terms of diagnosis of humoral immune deficiency depends upon the following:[5][6]
* Measure serum immunoglobulin levels
* B cell count
* Family medical history
## Treatment[edit]
Further information: Immunoglobulin therapy
Treatment for B cell deficiency (humoral immune deficiency) depends on the cause, however generally the following applies:[5]
* Treatment of infection (antibiotics)
* Surveillance for malignancies
* Immunoglobulin replacement therapy
## See also[edit]
* Immunodeficiency
* T cell deficiency
## References[edit]
1. ^ a b N. Franklin Adkinson Jr.; Bochner, Bruce S.; Burks, Wesley; Busse, William W.; Holgate, Stephen T. (2013-11-01). Middleton's Allergy: Principles and Practice. Elsevier Health Sciences. p. 1134. ISBN 9780323085939.
2. ^ a b "Pure B-Cell Disorders: Background, Pathophysiology, Epidemiology". 2017-01-06. Cite journal requires `|journal=` (help)
3. ^ a b Notarangelo L, Casanova JL, Conley ME, et al. (2006). "Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005". J. Allergy Clin. Immunol. 117 (4): 883–96. doi:10.1016/j.jaci.2005.12.1347. PMID 16680902.
4. ^ a b Page 432, Chapter 22, Table 22.1 in: Jones, Jane; Bannister, Barbara A.; Gillespie, Stephen H. (2006). Infection: Microbiology and Management. Wiley-Blackwell. ISBN 978-1-4051-2665-6.
5. ^ a b c d Fried, Ari J.; Bonilla, Francisco A. (2009-07-01). "Pathogenesis, Diagnosis, and Management of Primary Antibody Deficiencies and Infections". Clinical Microbiology Reviews. 22 (3): 396–414. doi:10.1128/CMR.00001-09. ISSN 0893-8512. PMC 2708392. PMID 19597006.
6. ^ a b Cecil, Russell La Fayette; Goldman, Lee; Schafer, Andrew I. (2012-01-01). Goldman's Cecil Medicine, Expert Consult Premium Edition -- Enhanced Online Features and Print, Single Volume,24: Goldman's Cecil Medicine. Elsevier Health Sciences. p. 1618. ISBN 978-1437716047.
7. ^ Pieper, Kathrin; Grimbacher, Bodo; Eibel, Hermann (2013-04-01). "B-cell biology and development". Journal of Allergy and Clinical Immunology. 131 (4): 959–971. doi:10.1016/j.jaci.2013.01.046. ISSN 0091-6749. PMID 23465663.
## Further reading[edit]
* Ahn, Sam; Cunningham-Rundles, Charlotte (2017-05-11). "Role of B cells in common variable immune deficiency". Expert Review of Clinical Immunology. 5 (5): 557–564. doi:10.1586/eci.09.43. ISSN 1744-666X. PMC 2922984. PMID 20477641.
* Honjo, Tasuku; Reth, Michael; Radbruch, Andreas; Alt, Frederick (2014-10-09). Molecular Biology of B Cells. Elsevier. ISBN 9780123984906.
## External links[edit]
* PubMed
Classification
D
* ICD-10: D80
* ICD-9-CM: 279.0
Scholia has a topic profile for Humoral immune deficiency.
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
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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
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*[POR]: Portugal
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*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Humoral immune deficiency | None | 28,496 | wikipedia | https://en.wikipedia.org/wiki/Humoral_immune_deficiency | 2021-01-18T18:41:14 | {"icd-9": ["279.0"], "icd-10": ["D80"], "wikidata": ["Q5941156"]} |
Osteochondroma
Other namesOsteocartilaginous exostoses
Lateral radiograph of the knee demonstrating ossification in the peritendinous tissues in a patient with osteochondroma.
SpecialtyOrthopedics
Osteochondromas are the most common benign tumors of the bones.[1][2] The tumors take the form of cartilage-capped bony projections or outgrowth on the surface of bones exostoses.[3][4] It is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone. Tumors most commonly affect long bones about the knee and in the forearm.[1][3] Additionally, flat bones such as the pelvis and scapula (shoulder blade) may be affected.[5] Hereditary multiple exostoses usually present during childhood. Yet, the vast majority of affected individuals become clinically manifest by the time they reach adolescence.[3][6] Osteochondromas occur in 3% of the general population and represent 35% of all benign tumors and 8% of all bone tumors. The majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple exostoses preferably known as hereditary multiple osteochondromas (HMOs).[4][7] Osteochondromas do not result from injury and the exact cause remains unknown. Recent research has indicated that multiple osteochondromas is an autosomal dominant inherited disease. Germ line mutations in EXT1 and EXT2 genes located on chromosomes 8 and 11 have been associated with the cause of the disease.[8] The treatment choice for osteochondroma is surgical removal of solitary lesion or partial excision of the outgrowth, when symptoms cause motion limitations or nerve and blood vessel impingements.[4][7] In hereditary multiple exostoses the indications of surgery are based upon multiple factors that are taken collectively, namely: patient's age, tumor location and number, accompanying symptomatology, esthetic concerns, family history and underlying gene mutation.[1][3] A variety of surgical procedures have been employed to remedy hereditary multiple exostoses such as osteochondroma excision, bone lengthening, corrective osteotomy and hemiepiphysiodesis. Sometimes a combination of the previous procedures is used.[3] The indicators of surgical success in regard to disease and patient characteristics are greatly disputable.[3] Because most studies of hereditary multiple exostoses are retrospective and of limited sample size with missing data, the best evidence for each of the currently practiced surgical procedures is lacking.[3]
## Contents
* 1 Signs and symptoms
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Research
* 6 References
* 7 External links
## Signs and symptoms[edit]
Limited normal functions and movements are caused by osteochondromas growing slowly and inwardly. The majority of osteochondromas are symptomless and are found incidentally. Each individual with osteochondroma may experience symptoms differently and most of the time individuals will experience no symptoms at all. Some of the most common symptoms are a hard immobile painless palpable mass, adjacent muscle soreness, and pressure or irritation with heavy exercising.[5] Major symptoms arise when complications such as fractures, bone deformity or mechanical joint problems occur. If the occurrence of an osteochondroma is near a nerve or a blood vessel, the affected limb can experience numbness, weakness, loss of pulse or color change. Periodic changes in the blood flow can also take place. Approximately 20% of patients experiencing nerve compression commonly acknowledge vascular compression, arterial thrombosis, aneurysm, and pseudoaneurysm. Formation of pseudoaneurysm and venous thrombosis lead to claudication, pain, acute ischemia, and symptoms of phlebitis. If the tumor is found under a tendon, it can cause pain during movement causing restriction of joint motion. Pain can also occur due to bursal inflammation, swelling or fracture at the base of the tumor stalk. Some of the clinical signs and symptoms of malignant osteochondroma are pain, swelling, and mass enlargement.[4]
## Mechanism[edit]
Osteochondromas are long and slender, pedunculated on a stalk often taking the shape of a cauliflower. The cartilage cap is covered by fibrous perichondrium and continues with the periosteum of the underlying bone. The cartilage cap is less than 2 cm thick and the thickness decreases with age. A cap more than 2 cm thick, indicates malignant transformation of a tumor. The cartilage cap merges with the epiphyseal area of the long bones called spongiosa. In the spongiosa, the chondrocytes are arranged in accordance with the epiphyseal growth plate. The spongiosa of the stalk continues with the underlying cancellous bone. Fractures within the stalk causes fibroblastic proliferation and formation of a new bone. Development of bursa takes place over the osteochondroma, which is attached to the perichondrium of the cap. Inflammation of the bone is indicated by the bursal wall lined by the synovium. As a result, patients may have swelling for years related to the location and site of the lesion indicative of mechanical obstruction, nerve impingement, pseudoaneurysm of the overlying vessel, fracture at the stalk of the lesion, or formation of bursa over the osteochondroma.[7] Heparan sulphate (HS) are glycosaminoglycans which are involved in the formation of proteoglycans. The biosynthesis of HS takes place in the Golgi apparatus and endoplasmic reticulum, where glycosaminoglycans chains are maintained by type II glycosyltransferases encoded by EXOSTOSIN genes EXT1 and EXT2. Decreased levels of HS leads to mutations in EXT1 or EXT2 causing skeletal abnormality.[9] The underlying mechanism for solitary and multiple osteochondromas have been associated with genetic alterations in EXT1 or EXT2 genes located on chromosomes 8 and 11. Approximately 65% of osteochondromas arise in the EXT1 gene loci on chromosome 8 and 35% arise in EXT2 gene loci on chromosome 11. About 70–75% of multiple osteochondromas are caused by point mutations, often involving deletion of single or multiple axons as found in 10% of all hereditary cases. In about 10–15% of all cases no genomic alterations are detected. The mechanism behind the formation of multiple osteochondroma is large genomic deletions of EXT1 and EXT2 genes. The identified mechanism behind solitary osteochondromas is the homozygous deletions of the EXT1 gene.[6] However, the exact cause of osteochondroma is unknown.[5] Additionally, the molecular basis of genetics and clinical variability of multiple osteochondroma as well as the underlying causes for the malignant transformation and the onset of osteochondroma in EXT negative patients is also currently unknown.[10]
## Diagnosis[edit]
Osteochondromas are often asymptomatic and may not cause any kind of discomfort. They are often found accidentally when an X-ray is done for an unrelated reason.[11]
* X-rays are the first tests performed that characterize a lesion. They show a clear picture of dense structures of bones, and will also indicate bone growth pertaining to osteochondroma.[5][11]
* Computed tomography (CT) scan can identify the bony lesion in great details and show the presence of calcification. These tests also provide great details, especially in soft tissues with the aide of cross-sectional images.
* Magnetic resonance imaging (MRI) is the most accurate method for detecting bone masses in symptomatic cases to depict precise morphology of a tumor. It is used to verify if the palpable mass is continuous with the cortex of the affected bone and to differentiate an osteochondroma from other lesions on the surface of the bone. MRI can also be used to look for cartilage on the surface of tumor and can depict any vascular complications caused by the tumor. An MRI can identify tumors of the spinal column and is often used to diagnose low grade osteosarcoma.[4][11]
* Ultrasound is done if aneurysms or pseudoaneurysms and venous or arterial thrombosis is suspected. Ultrasound is an accurate method for examining the cartilaginous cap of the osteochondroma. It is also a way of pinpointing bursitis. However, it cannot be used to predict if the growth of tumor is inward in regards to the cap.[4]
* Angiography is used to detect vascular lesions caused by osteochondroma due to ossified cartilaginous cap. It is also used to characterize malignant transformation lesions through neovascularity.[4]
* Clinical testing such as sequence analysis can be done of the entire coding regions of both EXT1 and EXT2 to detect mutations.[12]
* A biopsy of the tissue sample of the tumor can also be taken to check for cancer.[11]
Tests for osteochondroma can also identify diseases such as secondary peripheral chondrosarcoma and multiple osteochondromatosis. In large, secondary chondrosarcoma arises at the site of osteochondroma due to increased thickness of the cartilage cap indicating potential malignant transformation. The symptoms of multiple osteochondromatosis are similar to solitary osteochondroma, but they are often more severe. Painless bumps can arise at the site of tumor and pain and other discomforts can also take place if pressure is put on the soft tissues, nerves, or blood vessels.[4][11] Dysplasia Epiphysealis Hemimelica (DEH) or Trevor's disease and metachondromatosis (MC) are considered differential diagnosis of both solitary and hereditary osteochondromas. DEH is described as a type of over growth at one or more epiphyses. Similar to osteochondroma, DEH is diagnosed prior to 15 years of age and the growth of lesions end at puberty, when the growth plates close. Metachondromatosis is a rare disorder that exhibit symptoms of both multiple osteochondromas and enchondromas in children and is also inherited in autosomal dominant mode.[13]
A type that contains fat is known as an osteolipochondroma (osteo, bone, lipos, fat, + chondros, cartilage, oma, tumor).[14]
## Treatment[edit]
Surgical extraction of osteochondromas is sometimes beneficial. Shown is an osteochondroma surgically extracted from a ten-year-old patient. The bone is the cylindrical stalk at the bottom, about 1/2 inch long, the two diagonal growths are cartilage. This morphology is typical of a tibial bone spur.
Osteochondromas are benign lesions and do not affect life expectancy.[13] Complete excision of osteochondroma is curative and the reoccurrences take place when the removal of tumor is incomplete. Multiple reoccurrences in a well-excised lesion indicate that it may be malignant.[4] The risk of malignant transformation takes place in 1–5% of individuals.[13] If any symptoms of cancerous tumor takes place, then the patient should be evaluated by a bone specialist.[11] No treatment is necessary for Solitary osteochondromas that are asymptomatic. Treatments for solitary osteochondroma are careful observation over time and taking regular x-rays to monitor any changes in the tumor.[11] If the lesion is causing pain with activity, nerve or vessel impingement, or if the bone growth has fully matured and the presence of a large cartilage cap is prominent, then it is advised that the tumor be surgically removed.[15][16]
Osteochondromas have a low rate of malignancy (<1%) and resection of the tumor is suggested if symptoms such as pain, limitation of movement, or impingement on nerves or vessels occur. Resection of the tumor also takes place when the tumor increases in size and progresses towards malignancy. During surgical resection, the entire lesion along with the cartilaginous cap should be removed to minimize any chances of reoccurrences.[7] Surgical treatment becomes the sole treatment of choice if common complications such as fractures, symptoms of peripheral nerves such as paresthesia, paraplegia, peroneal neuropathy, and upper limb neuropathy take place. A prophylactic resection is suggested if the lesion lies next to a vessel.
Depending on the size and location of the tumor, the time it takes to return to normal daily activities varies between individuals. Limitation on some activities is advised if pain or discomfort persists after surgical excision.[11]
## Research[edit]
Research done using Zebrafish dackel (dak) have shown that in EXT2-/- Zebrafish, chondrocytes fail to undergo terminal differentiation and bone formation fails to progress from pre-osteoblasts stage to osteoblasts. Instead, abnormal lipid deposition and premature adipocyte differentiation takes place. The expression of xbp1, master regulator of osterix gets reduced, suggesting that unfolded proteins responses may play a role in pathogenesis of multiple osteochondroma. The research concludes that heparan sulphates are required for terminal differentiation and formation of scaffold that is needed for bone development. At least one copy of EXT2 gene is needed for proper bone development and to maintain the balance between bone and fat cell lineages. Due to homozygous loss of EXT2 function, leads to imbalance between cartilage, bone, and fat cell lineages. These observations in null zebrafish points toward the musculoskeletal defects observed in patients with multiple osteochondroma. Due to the findings of bone-fat imbalance in Zebra fish model, future studies should address status of lipid composition in patients with multiple osteochondroma.[9] Research conducted using sequencing methods has identified a novel frame shift mutation at the glycosyltransferase domain (c.1457insG) located at codon 486 of exon 6 of the EXT1 gene, that causes multiple osteochondromas. This study was conducted in two multiple osteochondroma (MO) patients from the Chinese descent (same family) and the results were validated with four other members of the same MO family and 200 unrelated healthy subjects. The results of the mutations were validated using two different sequencing methods (Exome and Sanger). The results of immunohistochemistry and multiple sequence alignment supports the cause of MO being a mutation in EXT1 gene. However, the exact molecular mechanism of multiple osteochondroma remains unclear. The EXT1 gene encodes the endoplasmic reticulum-resident type II transmembrane glycosyltransferase, which catalyzes polymerization of heparin sulfate chain at the endoplasmic reticulum and the Golgi apparatus. Heparin sulfate regulates signal transduction during chondrocyte differentiation, ossification, and apoptosis. Malfunction in heparin sulfate synthesis causes chondrocytes to rapidly differentiate. Based on these results future studies should elucidate the underlying molecular mechanism of the glycosyltransferase domain of the EXT1 and its involvement in the development of multiple osteochondromas.[8] Osteochondromas are associated with secondary peripheral chondrosarcomas, but the pathogenesis of the malignant bone tumor remains unknown. Research has demonstrated that chondrocytes with dysfunctional EXT1 is present in solitary osteochondromas, but the EXT1 is functional in sporadic (solitary) secondary peripheral chondrosarcomas. Research indicates that osteochondromas creates a special niche in which wild type cells are mixed in with EXT functional cells. Then these EXT functional cells undergo other mutations, that give rise to secondary peripheral chondrosarcoma, indicating the involvement of an alternative mechanism for the pathogenesis of secondary peripheral chondrosarcoma. Future studies should address the contributing gene that causes the formation of peripheral chondrosarcoma. It should also illustrate what causes chondrocytes functional with EXT1 and EXT2 within the osteochondroma to become more susceptible to mutations leading to malignancy.[6]
## References[edit]
1. ^ a b c Wuyts, W; Schmale, GA; Chansky, HA; et al. (21 November 2013). "Hereditary Multiple Osteochondromas". GeneReviews. Retrieved 30 March 2018.
2. ^ Sekharappa, V; Amritanand R; Krishnan V; David KS (February 2014). "Symptomatic solitary osteochondroma of the subaxial cervical spine in a 52-year-old patient". Asian Spine J. 8 (1): 84–88. doi:10.4184/asj.2014.8.1.84. PMC 3939376. PMID 24596611.
3. ^ a b c d e f g EL-Sobky, TA; Samir, S; Atiyya, AN; Mahmoud, S; Aly, AS; Soliman, R (21 March 2018). "Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review". Sicot-J. 4: 10. doi:10.1051/sicotj/2018002. PMC 5863686. PMID 29565244.
4. ^ a b c d e f g h i Panagiotis, Kitsoulis; Vassiliki Galani; Kalliopi Stefanaki; Georgios Paraskevas; Georgios Karatzias; Niki John Agnantis; Maria Bai (October 2008). "Osteochondromas: Review of the Clinical, Radiological and Pathological Features". In Vivo. 22 (5): 633–646. PMID 18853760. Retrieved 22 March 2014.
5. ^ a b c d "Osteochondroma". University of Rochester Medical Center. Retrieved 15 March 2014.
6. ^ a b c de Andrea, CE; Reijnders CM; Kroon HM; De Jong D; Hogendoorn PC; Szuhai K; Bovée JV (1 March 2012). "Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT". Oncogene. 31 (9): 1095–1104. doi:10.1038/onc.2011.311. PMID 21804604. S2CID 11418240.
7. ^ a b c d Reijnders, Christianne; Liesbeth Hameetman; Judith VMG Bovée (September 2008). "Bone: Osteochondroma". Atlas of Genetics and Cytogenetics in Oncology and Haematology. Retrieved 15 March 2014.
8. ^ a b Krahe, Ralf; Zhang, Feng; Liang, Jinlong; Guo, Xiong; Zhang, Yingang; Wen, Yan; Li, Qiang; Zhang, Zengtie; Ma, Weijuan; Dai, Lanlan; Liu, Xuanzhu; Yang, Ling; Wang, Jun (2013). "Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas". PLOS ONE. 8 (8): e72316. doi:10.1371/journal.pone.0072316. ISSN 1932-6203. PMC 3757002. PMID 24009674.
9. ^ a b Wiweger, Malgorzata; De Andrea CE; Scheepstra KW; Zhao Z; Hogendoorn PC (March 2014). "Possible effects of EXT2 on mesenchymal differentiation– lessons from the zebrafish". Orphanet Journal of Rare Diseases. 9 (35): 35. doi:10.1186/1750-1172-9-35. PMC 4004154. PMID 24628984.
10. ^ Zuntini, M; Salvatore M; Pedrini E; Parra A; Sgariglia F; Magrelli A; Taruscio D; Sangiorgi L (December 2010). "MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures". Clin. Genet. 78 (6): 507–516. doi:10.1111/j.1399-0004.2010.01490.x. PMID 20662852. S2CID 21999710.
11. ^ a b c d e f g h "Osteochondroma". American Academy of Orthopedic Surgeons. Retrieved 15 March 2014.
12. ^ Wuyts, Wim (21 November 2013). GeneReviews. Seattle, WA: University of Washington, Seattle.
13. ^ a b c Bovée, Judith VMG (13 February 2008). "Multiple Osteochondromas". Orphanet Journal of Rare Diseases. 3 (1): 3. doi:10.1186/1750-1172-3-3. PMC 2276198. PMID 18271966.
14. ^ MORRIS, CHRISTOPHER W.; Morris, Christopher G.; Press, Academic (1992). Academic Press Dictionary of Science and Technology. Gulf Professional Publishing. p. 1539. ISBN 9780122004001.
15. ^ "Osteochondroma". Bone Tumor.org. Retrieved 25 March 2014.
16. ^ "Osteochondroma". PhysioPedia. Retrieved 25 March 2014.
## External links[edit]
* Humpath #2790 (Pathology images)
* American Academy of Orthopedic Surgeons
Classification
D
* ICD-10: D16
* ICD-O: 9210/0
* MeSH: D015831
* DiseasesDB: 34033
* SNOMED CT: 443093007
External resources
* eMedicine: article/1256477
* v
* t
* e
Tumours of bone and cartilage
Diaphysis
* Multiple myeloma
* Epithelia
* Adamantinoma
* Primitive neuroectodermal tumor
* Ewing family
* Ewing's sarcoma
Metaphysis
Osteoblast
* Osteoid osteoma
* Osteoblastoma
* Osteoma/osteosarcoma
Chondroblast
* Chondroma/ecchondroma/enchondroma
* Enchondromatosis
* Extraskeletal chondroma
* Chondrosarcoma
* Mesenchymal chondrosarcoma
* Myxoid chondrosarcoma
* Osteochondroma
* Osteochondromatosis
* Chondromyxoid fibroma
Fibrous
* Ossifying fibroma
* Fibrosarcoma
Epiphysis
Chondroblast
* Chondroblastoma
Myeloid
* Giant-cell tumor of bone
Other
Notochord
* Chordoma
* 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]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Osteochondroma | c0029423 | 28,497 | wikipedia | https://en.wikipedia.org/wiki/Osteochondroma | 2021-01-18T18:58:37 | {"gard": ["7281"], "mesh": ["D015831"], "umls": ["C0029423"], "icd-10": ["D16"], "wikidata": ["Q2035032"]} |
A number sign (#) is used with this entry because of evidence that uncombable hair syndrome-2 (UHS2) is caused by homozygous mutation in the TGM3 gene (600238) on chromosome 20p13. One such patient has been reported.
Description
Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480).
Clinical Features
Kilic et al. (2013) reported a 24-year-old Turkish man, born of consanguineous parents, who had yellowish, dry, frizzy hair that projected outward. His mother stated that his hair had that texture since infancy, was slow growing, and was always hard to comb. Neither alopecia nor hypotrichosis was present, and there was no evidence of scalp abnormalities. Eyebrows, eyelashes, and body hair were not involved. Mucosae, teeth, nails, and sweating were normal. Light microscopic examination of the hairs revealed canal-like longitudinal depressions and, on trichoscopy, a longitudinal grooving was also detected. The diagnosis of UHS was confirmed by scanning electron microscopy (SEM), which showed shallow grooving along the entire length of the hairs examined. Further work-up demonstrated bilateral juvenile cataract.
Molecular Genetics
By whole-exome sequencing in the Turkish patient with uncombable hair syndrome reported by Kilic et al. (2013), who did not have a mutation in the PADI3 gene (606755), U. Basmanav et al. (2016) identified a homozygous nonsense mutation (Q451X; 600238.0001) in the TGM3 gene. Functional experiments in HaCaT and HEK293T cells showed that the mutations led to reduced enzymatic activity.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Juvenile cataract, bilateral SKIN, NAILS, & HAIR Hair \- Normal neonatal hair \- Dry, frizzy hair \- Yellow hair color \- Uncombable hair \- Slow hair growth \- Pili trianguli (seen on scanning EM of hair shaft cross-section) \- Pili canaliculi (seen on scanning EM of hair shaft cross-section) MISCELLANEOUS \- Onset in infancy \- Amelioration with age \- One patient has been reported (Last curated December 2016) MOLECULAR BASIS \- Caused by mutation in transglutaminase 3 (TGM3, 600238.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| UNCOMBABLE HAIR SYNDROME 2 | c0432347 | 28,498 | omim | https://www.omim.org/entry/617251 | 2019-09-22T15:46:21 | {"mesh": ["C536939"], "omim": ["617251"], "orphanet": ["1410"]} |
A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Transient erythroblastopenia of childhood | c0238478 | 28,499 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98871 | 2021-01-23T17:29:10 | {"gard": ["7793"], "mesh": ["C536980"], "omim": ["227050"], "umls": ["C0238478"], "icd-10": ["D60.1"], "synonyms": ["Transient acquired pure red cell aplasia"]} |
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