text
stringlengths 297
230k
| title
stringlengths 4
145
| cui
stringlengths 4
10
| idx
int64 0
30.7k
| source
stringclasses 6
values | source_url
stringlengths 33
155
| retrieved_date
timestamp[s] | classification_map
stringlengths 2
1.45k
|
|---|---|---|---|---|---|---|---|
Koumpounophobia
SpecialtyPsychology
Koumpounophobia is the term used to describe the phobia of buttons on clothing.[1] This phobia regularly leads to feelings of fear and disgust when sufferers are exposed to buttons either visually or physically.[2] It is estimated that less than one percent of the U.S. suffers from this phobia.[3] The most common forms of treatment for koumpounophobia are behavioral therapy and cognitive-behavioral therapy.[4]
## Notable sufferers of koumpounophobia[edit]
Steve Jobs, the co-founder of Apple Inc., suffered from koumpounophobia. Some have speculated that his condition influenced the trend towards touch screens and virtual keyboards in the design of Apple devices.[5]
## Koumpounophobia in popular culture[edit]
In 2009, popular author Neil Gaiman released a promotional teaser trailer for the film Coraline, based on his novella.[6] The trailer featured Gaiman addressing the nature of koumpounophobia and warning sufferers about the content of the film, which features characters with buttons in place of eyes.
## References[edit]
1. ^ Russell, Julia; Lintern, Fiona; Gauntlett, Lizzie; Davies, Jamie (September 24, 2016). Cambridge International AS and A Level Psychology Coursebook. Cambridge University Press. ISBN 9781316605691 – via Google Books.
2. ^ Saavedra, LM, Silverman, WK, PH.D. 2002, “Case Study: Disgust and a Specific Phobia of Buttons”, Journal of the American Academy of Child and Adolescent Psychiatry, Volume 41, Issue 11, Pages 1376-1379, accessed October 2010
3. ^ "Koumpounophobia | AKB". sites.psu.edu. Retrieved 2020-01-05.
4. ^ Clarke, Greg. "Koumpounophobia". Gregology.
5. ^ Anne, Jolis (22 November 2014). "Steve Jobs's button phobia has shaped the modern world". The Spectator. Retrieved 2 June 2020.
6. ^ "Koumpounophobia HD" – via www.youtube.com.
This abnormal psychology–related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Koumpounophobia
|
None
| 27,800 |
wikipedia
|
https://en.wikipedia.org/wiki/Koumpounophobia
| 2021-01-18T18:39:01 |
{"wikidata": ["Q85774959"]}
|
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
## Epidemiology
It is an extremely rare disease; about 20 cases have been reported in the literature so far.
## Clinical description
It commonly appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed.
## Etiology
Glycogen synthetase deficiency is caused by mutations in the GYS2 gene (12p12.2).
## Diagnostic methods
Biological results after glucose loading test strongly suggest the diagnosis, but formal diagnosis requires a liver biopsy showing a slightly decreased glycogen concentration and evidence of the enzyme deficiency (it is not expressed in muscles, erythrocytes, leukocytes, or fibroblasts). Molecular analysis revealing a mutation in the GYS2 gene confirms the diagnosis. Mutation analysis is an alternative to liver biopsy.
## Differential diagnosis
Differential diagnoses include fructose intolerance, GSD type 1 (see these terms), and hypoglycemia.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
The condition is treated with a specific diet that includes frequent meals with high protein intake during the day and addition of uncooked starch in the evening.
## Prognosis
Prognosis is favorable when the disease is correctly managed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Glycogen storage disease due to hepatic glycogen synthase deficiency
|
c1855861
| 27,801 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2089
| 2021-01-23T18:31:32 |
{"gard": ["2513"], "mesh": ["C565485"], "omim": ["240600"], "umls": ["C1855861"], "icd-10": ["E74.0"], "synonyms": ["GSD due to hepatic glycogen synthase deficiency", "GSD type 0a", "Glycogen storage disease due to liver glycogen synthase deficiency", "Glycogen storage disease type 0a", "Glycogenosis type 0a"]}
|
Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Brucellosis
|
c0006309
| 27,802 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1304
| 2021-01-23T18:33:20 |
{"gard": ["5966"], "mesh": ["D002006"], "umls": ["C0006309"], "icd-10": ["A23.0", "A23.1", "A23.2", "A23.3", "A23.8", "A23.9"]}
|
Not to be confused with DRESS Syndrome.
Dressler syndrome
SpecialtyCardiology
Dressler syndrome is a secondary form of pericarditis that occurs in the setting of injury to the heart or the pericardium (the outer lining of the heart). It consists of fever, pleuritic pain, pericarditis and/or a pericardial effusion.
Dressler syndrome is also known as postmyocardial infarction syndrome[1] and the term is sometimes used to refer to post-pericardiotomy pericarditis.
It was first characterized by William Dressler at Maimonides Medical Center in 1956.[2][3][4]
It should not be confused with the Dressler's syndrome of haemoglobinuria named for Lucas Dressler, who characterized it in 1854.[5][6]
## Contents
* 1 Presentation
* 2 Causes
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Presentation[edit]
Dressler syndrome was historically a phenomenon complicating about 7% of myocardial infarctions,[7] but in the era of percutaneous coronary intervention, it is very uncommon. The disease consists of a persistent low-grade fever, chest pain (usually pleuritic), pericarditis (usually evidenced by a pericardial friction rub, chest pain worsening when recumbent, and diffuse ST elevation with PR segment depression), and/or a pericardial effusion. The symptoms tend to occur 2–3 weeks after myocardial infarction but can also be delayed a few months. It tends to subside in a few days, and very rarely leads to pericardial tamponade.[8] Elevated ESR is an objective but nonspecific laboratory finding.
## Causes[edit]
It is believed to result from an autoimmune inflammatory reaction to myocardial neo-antigens formed as a result of the MI. A similar pericarditis can be associated with any pericardiotomy or trauma to the pericardium or heart surgery which is called postcardiotomy syndrome.[citation needed]
## Diagnosis[edit]
### Differential diagnosis[edit]
Dressler syndrome needs to be differentiated from pulmonary embolism, another identifiable cause of pleuritic (and non-pleuritic) chest pain in people who have been hospitalized and/or undergone surgical procedures within the preceding weeks.[citation needed] ischaemic heart disease.
## Treatment[edit]
Dressler syndrome is best treated with high dose aspirin. In some resistant cases, corticosteroids can be used but are not preferred (avoided) in first month due to the high frequency of impaired ventricular healing leading to increased rate of ventricular rupture. Other NSAIDs, though once used to treat Dressler syndrome, are less advocated and should be avoided in patients with ischemic heart disease. One NSAID in particular, indomethacin, can inhibit new collagen deposition, thus impairing the healing process for the infarcted region. Other NSAIDS should be used only in cases refractory to aspirin. Heparin should be avoided because it can lead to hemorrhage into the pericardial sac, leading to tamponade. The only time heparin could be used with pericarditis is with coexisting acute MI, in order to prevent further thrombus formation.[9]
## References[edit]
1. ^ Hutchcroft, B J (1 July 1972). "Dressler's syndrome". BMJ. 3 (5817): 49–9. doi:10.1136/bmj.3.5817.49-a. PMC 1788531. PMID 5039567.
2. ^ Bendjelid K, Pugin J (November 2004). "Is Dressler syndrome dead?". Chest. 126 (5): 1680–2. doi:10.1378/chest.126.5.1680. PMID 15539743.
3. ^ Streifler J, Pitlik S, Dux S, et al. (April 1984). "Dressler's syndrome after right ventricular infarction". Postgrad Med J. 60 (702): 298–300. doi:10.1136/pgmj.60.702.298. PMC 2417818. PMID 6728756.
4. ^ Dressler W (January 1959). "The post-myocardial-infarction syndrome: a report on forty-four cases". Arch Intern Med. 103 (1): 28–42. doi:10.1001/archinte.1959.00270010034006. PMID 13605300.
5. ^ synd/3982 at Who Named It?
6. ^ Dressler, L. A. (1854). "Ein Fall von intermittierender Albuminurie und Chromaturie" [A case of intermittent albuminuria and chromaturia]. Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin (in German). 6: 264–6. hdl:2027/hvd.32044093329910.
7. ^ Krainin F, Flessas A, Spodick D (1984). "Infarction-associated pericarditis. Rarity of diagnostic electrocardiogram". N Engl J Med. 311 (19): 1211–4. doi:10.1056/NEJM198411083111903. PMID 6493274.
8. ^ Hertzeanu, H; Almog, C; Algom, M (1983). "Cardiac tamponade in Dressler's syndrome. Case report". Cardiology. 70 (1): 31–6. doi:10.1159/000173566. PMID 6850684.
9. ^ Jaffe, AS; Boyle, AJ (2009). "Acute Myocardial Infarction". In Crawford, Michael H. (ed.). CURRENT Diagnosis & Treatment: Cardiology (3rd ed.). New York: McGraw-Hill. pp. 51–72. ISBN 978-0-07-170199-0.
## External links[edit]
Classification
D
* ICD-10: I24.1
* ICD-9-CM: 411.0
* DiseasesDB: 3947
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Dressler syndrome
|
c0152107
| 27,803 |
wikipedia
|
https://en.wikipedia.org/wiki/Dressler_syndrome
| 2021-01-18T18:53:04 |
{"umls": ["C0152107"], "wikidata": ["Q1258666"]}
|
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Glycogen storage disease due to aldolase A deficiency
|
c0272066
| 27,804 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=57
| 2021-01-23T18:31:41 |
{"gard": ["600"], "mesh": ["C562718"], "omim": ["611881"], "umls": ["C0272066"], "icd-10": ["E74.0"], "synonyms": ["GSD due to aldolase A deficiency", "GSD type 12", "GSD type XII", "Glycogen storage disease type 12", "Glycogen storage disease type XII", "Glycogenosis due to aldolase A deficiency", "Glycogenosis type 12", "Glycogenosis type XII"]}
|
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.
In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.
Heterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.
Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy.
The severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.
## Frequency
The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears to be more common in populations in Asia than in North America and Europe. Recent studies report that in the United States, the condition occurs more frequently in children born to Black or Hispanic mothers than in children born to white mothers.
## Causes
Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the earliest stages of embryonic development. Dozens of genes are probably involved in establishing left-right asymmetry; mutations in at least 20 of these genes have been identified in people with heterotaxy syndrome.
In some cases, heterotaxy syndrome is caused by mutations in genes whose involvement in determining left-right asymmetry is unknown. Rarely, chromosomal changes such as insertions, deletions, duplications, and other rearrangements of genetic material have been associated with this condition.
Heterotaxy syndrome can occur by itself, or it can be a feature of other genetic syndromes that have additional signs and symptoms. For example, at least 12 percent of people with a condition called primary ciliary dyskinesia have heterotaxy syndrome. In addition to abnormally positioned internal organs, primary ciliary dyskinesia is characterized by chronic respiratory tract infections and an inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia, which are microscopic, finger-like projections that stick out from the surface of cells. It appears that cilia play a critical role in establishing left-right asymmetry before birth.
Studies suggest that certain factors affecting a woman during pregnancy may also contribute to the risk of heterotaxy syndrome in her child. These include diabetes mellitus; smoking; and exposure to hair dyes, cocaine, and certain laboratory chemicals.
Some people with heterotaxy syndrome have no identified gene mutations or other risk factors. In these cases, the cause of the condition is unknown.
### Learn more about the genes associated with Heterotaxy syndrome
* DNAH5
* DNAI1
* GJA1
Additional Information from NCBI Gene:
* ACVR2B
* CFAP53
* CFC1
* CITED2
* CRELD1
* DNAH11
* FOXH1
* GATA4
* GDF1
* LEFTY2
* MMP21
* NAT10
* NKX2-5
* NODAL
* SESN1
* SHROOM3
* SMAD2
* ZIC3
## Inheritance Pattern
Most often, heterotaxy syndrome is sporadic, meaning that only one person in a family is affected. However, about 10 percent of people with heterotaxy syndrome have a close relative (such as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated congenital heart defects and heterotaxy syndrome may represent a range of signs and symptoms that can result from a particular genetic mutation; this situation is known as variable expressivity. It is also possible that different genetic and environmental factors combine to produce isolated congenital heart defects in some family members and heterotaxy syndrome in others.
When heterotaxy syndrome runs in families, it can have an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance, depending on which gene is involved. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means that 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. In X-linked inheritance, the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell.
When heterotaxy syndrome occurs as a feature of primary ciliary dyskinesia, it has an autosomal recessive pattern of inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Heterotaxy syndrome
|
c1853508
| 27,805 |
medlineplus
|
https://medlineplus.gov/genetics/condition/heterotaxy-syndrome/
| 2021-01-27T08:24:59 |
{"gard": ["10875"], "omim": ["606217", "306955", "605376", "606325", "613751", "270100", "614779", "208530"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that ring chromosome 14 (r14) syndrome is associated with a ring of chromosome 14 apparent on cytogenetic analysis, which may disrupt genes within this region.
Description
Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features. Additional variable features include hypotonia and retinopathy (summary by Imataka et al., 2013 and Giovannini et al., 2013).
Clinical Features
Iselius et al. (1980) reported a 12-year-old girl who developed seizures at 8 months of age, followed by delayed psychomotor development with mental retardation and poor speech. She had some dysmorphic features, including broad, flat nose, synophrys, narrow palpebral fissures, high-arched palate, and cubitus valgus. She also had microcrania and poorly mineralized long bones and bones of the hand. Cytogenetic analysis showed a ring chromosome 14 that was not present in the mother; genetic material from the father was not available.
Schmidt et al. (1981) reported a 35-month-old girl of Puerto Rican descent with delayed psychomotor development, poor speech, and dysmorphic features, including high forehead, narrow biparietal diameter, flat occiput, flat nasal bridge, hypertelorism and downslanting palpebral fissures, epicanthal folds, short thick eyebrows, low-set ears with large lobes, high-arched palate, and short neck. She also had abnormal hypo- and hyperpigmented spots on the body. Neurologic examination showed poor head control and increased muscle tone with hyperreflexia; she later developed poorly controlled generalized tonic-clonic seizures. Cytogenetic studies identified a ring chromosome 14 aberration that was not present in either unaffected parent.
Matalon et al. (1990) reported a family in which a mother who was mosaic for a ring chromosome 14 transmitted it to her 2 sons, both of whom had severe mental retardation with poor or absent speech, infantile-onset seizures, and dysmorphic facial features. The mother had borderline normal cognition and mild dysmorphic features, including anteverted nares and downward slant to the eyes. The mother also had a translocation t(14q21q) that was not found in her sons; Matalon et al. (1990) postulated that the translocation contributed to the ring 14 formation.
Atchaneeyasakul et al. (1998) reported a patient (S.T.) with microcephaly, mild developmental delay, and chorioretinopathy associated with a ring chromosome 14.
Imataka et al. (2013) reported a 5-year-old girl who developed generalized seizures at age 9 months, followed by refractory complex partial seizures. She had delayed development and very mild facial abnormalities, including flat nose, blepharophimosis, and almond-shaped eyes. Brain MRI was normal; EEG showed high-amplitude slow waves with spikes. Chromosome analysis showed ring chromosome 14.
Giovannini et al. (2013) retrospectively reviewed the seizure phenotype of 22 patients with r(14) syndrome who ranged in age from 26 months to 22 years. The mean age at seizure onset was 1 year, 2 months, with 11 patients developing seizures before 6 months of age. Seizure type was variable, including generalized, tonic-clonic, myoclonic, clonic, and focal hemiclonic. Eight patients had severe and prolonged seizures resulting in status epilepticus. About half had seizures during sleep or while falling asleep. Most seizures were drug-resistant. Seizure frequency changed during the disease course, and some patients had some drug response. EEG tended to show slow background activity with paroxysmal spike-waves often during sleep. In addition to seizures, common features of these patients included axial hypotonia, microcephaly, and moderate to severe intellectual disability. Brain imaging showed nonspecific abnormalities in only some patients.
INHERITANCE \- Isolated cases GROWTH Other \- Poor growth HEAD & NECK Head \- Microcephaly \- Flat occiput \- Dolichocephaly Ears \- Low-set ears Eyes \- Downslanting palpebral fissures \- Epicanthal folds \- Hypertelorism \- Pigmentary retinopathy (in some patients) Nose \- Flat nasal bridge \- Anteverted nostrils Mouth \- High-arched palate Neck \- Short neck SKIN, NAILS, & HAIR Skin \- Pigmentary abnormalities (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Seizures, severe, prolonged, refractory \- Delayed psychomotor development \- Intellectual disability \- Poor speech \- Status epilepticus \- Various seizure types MISCELLANEOUS \- Onset in infancy \- One report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons MOLECULAR BASIS \- Caused by a ring chromosome 14 ▲ 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
|
RING CHROMOSOME 14 SYNDROME
|
c2930916
| 27,806 |
omim
|
https://www.omim.org/entry/616606
| 2019-09-22T15:48:24 |
{"mesh": ["C535487"], "omim": ["616606"], "orphanet": ["1440"]}
|
Black lung disease
Coal workers' pneumoconiosis (CWP), also known as black lung disease or black lung, is caused by long-term exposure to coal dust. It is common in coal miners and others who work with coal. It is similar to both silicosis from inhaling silica dust and asbestosis from inhaling asbestos dust. [1] Inhaled coal dust progressively builds up in the lungs and leads to inflammation, fibrosis, and in worse cases, necrosis.
Coal workers' pneumoconiosis, severe state, develops after the initial, milder form of the disease known as anthracosis (from the Greek άνθρακας, or anthracas —coal, carbon). This is often asymptomatic and is found to at least some extent in all urban dwellers[2] due to air pollution. Prolonged exposure to large amounts of coal dust can result in more serious forms of the disease, simple coal workers' pneumoconiosis and complicated coal workers' pneumoconiosis (or progressive massive fibrosis, or PMF).[3] More commonly, workers exposed to coal dust develop industrial bronchitis,[4] clinically defined as chronic bronchitis (i.e. productive cough for 3 months per year for at least 2 years) associated with workplace dust exposure. The incidence of industrial bronchitis varies with age, job, exposure, and smoking. In nonsmokers (who are less prone to develop bronchitis than smokers), studies of coal miners have shown a 16%[5] to 17%[6] incidence of industrial bronchitis.
In 2013 CWP resulted in 25,000 deaths globally—down from 29,000 deaths in 1990.[7] However, a later 2018 study by the National Institute of Occupational Safety and Health shows a resurgence of the incurable respiratory illness, the highest rate recorded in roughly two decades.[8]
## Contents
* 1 Pathogenesis
* 1.1 Appearance
* 2 Diagnosis
* 2.1 Treatment
* 2.2 Prevention of pneumoconiosis
* 3 Epidemiology
* 4 History
* 4.1 21st century
* 5 Research
* 6 See also
* 7 References
* 8 External links
## Pathogenesis[edit]
Coal dust is not as fibrogenic as silica dust.[9] Coal dust that enters the lungs can neither be destroyed nor removed by the body. The particles are engulfed by resident alveolar or interstitial macrophages and remain in the lungs, residing in the connective tissue or pulmonary lymph nodes. Coal dust provides a sufficient stimulus for the macrophage to release various products, including enzymes, cytokines, oxygen radicals, and fibroblast growth factors,[10] which are important in the inflammation and fibrosis of CWP. Aggregations of carbon-laden macrophages can be visualized under a microscope as granular, black areas. In serious cases, the lung may grossly appear black. These aggregations can cause inflammation and fibrosis, as well as the formation of nodular lesions within the lungs. The centers of dense lesions may become necrotic due to ischemia, leading to large cavities within the lung.
### Appearance[edit]
Simple CWP is marked by the presence of 1–2 mm nodular aggregations of anthracotic macrophages, supported by a fine collagen network, within the lungs. Those 1–2 mm in diameter are known as coal macules, with larger aggregations known as coal nodules. These structures occur most frequently around the initial site of coal dust accumulation—the upper regions of the lungs around respiratory bronchioles.[2] The coal macule is the basic pathological feature of CWP and has a surrounding area of enlargement of the airspace, known as focal emphysema.[11]
Continued exposure to coal dust following the development of simple CWP may progress to complicated CWP with progressive massive fibrosis (PMF), wherein large masses of dense fibrosis develop, usually in the upper lung zones, measuring greater than 1 cm in diameter, with accompanying decreased lung function. These cases generally require a number of years to develop. Grossly, the lung itself appears blackened. Pathologically, these consist of fibrosis with haphazardly-arranged collagen and many pigment-laden macrophages and abundant free pigment. Radiographically, CWP can appear strikingly similar to silicosis. In simple CWP, small rounded nodules (see ILO Classification) predominate, tending to first appear in the upper lung zones. The nodules may coalesce and form large opacities (>1 cm), characterizing complicated CWP, or PMF.
## Diagnosis[edit]
Micrograph of anthracosis, with interstitial pigment deposition (black arrow) and an anthracotic macrophage (white arrow).
There are three basic criteria for the diagnosis of CWP:
1. Chest radiography consistent with CWP
2. An exposure history to coal dust (typically underground coal mining) of sufficient amount and latency
3. Exclusion of alternative diagnoses (mimics of CWP)
Symptoms and pulmonary function testing relate to the degree of respiratory impairment but are not part of the diagnostic criteria. As noted above, the chest X-ray appearance for CWP can be virtually indistinguishable from silicosis. Chest CT, particularly high-resolution scanning (HRCT), are more sensitive than plain X-ray for detecting the small round opacities.
### Treatment[edit]
There is no cure or discovered treatments for pneumoconiosis. Some patients are given oxygen to help with their breathing and are advised to stop smoking to prevent further decline in lung function. In the most extreme cases a lung transplant could be done to help prolong the patient's life expectancy.[12]
### Prevention of pneumoconiosis[edit]
The main way to avoid contracting coal worker's pneumoconiosis is to avoid the inhalation of coal dust. Some of the ways to prevent this disease include: not smoking, wearing ventilated masks when coming in contact with potentially dangerous airborne particles, regular pulmonary exams, and becoming educated about the risks of lung diseases in your work environment.[13]
## Epidemiology[edit]
Play media
A video on the history of black lung disease
In 2013 CWP resulted in 25,000 deaths down from 29,000 deaths in 1990.[7] Between 1970–1974, prevalence of CWP among US coal miners who had worked over 25 years was 32%; the same group saw a prevalence of 9% in 2005–2006.[14] In Australia, CWP was considered to be eliminated in the 1970s due to strict hazard control measures. However, there has been a resurgence of CWP in Australia, with the first new cases being detected in May 2015.[15] From 1999 to 2016, the average years of life lost due to CWP increased from 8.1 to 12.6 years, most likely due to the increased severity and progression of CWP.[16]
## History[edit]
The examples and perspective in this article deal primarily with the United States and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (August 2015) (Learn how and when to remove this template message)
A miner at the Black Lung Laboratory in the Appalachian Regional Hospital in Beckley, West Virginia.
Black lung is actually a set of conditions and until the 1950s its dangers were not well understood. The prevailing view was that silicosis was very serious but it was solely caused by silica and not coal dust. The miners' union, the United Mine Workers of America, realized that rapid mechanization meant drills that produced much more dust, but under John L. Lewis they decided not to raise the black lung issue because it might impede the mechanization that was producing higher productivity and higher wages. Union priorities were to maintain the viability of the long-fought-for welfare and retirement fund, which would be sustained by higher outputs of coal. After the death of Lewis, the union dropped its opposition to calling black lung a disease and realized the financial advantages of a fund for its disabled members.
In the Federal Coal Mine Health and Safety Act of 1969, the US Congress set up standards to reduce dust and created the Black Lung Disability Trust. The mining companies agreed to a clause, by which a ten-year history of mine work, coupled with X-ray or autopsy evidence of severe lung damage, guaranteed compensation. Equally important was a "rate retention" clause that allowed workers with progressive lung disease to transfer to jobs with lower exposure without loss of pay, seniority, or benefits. Financed by a federal tax on coal, the Trust by 2009 had distributed over $44 billion in benefits to miners disabled by the disease and their widows. A miner who has spent 25 years in underground coal mines has a 5–10% risk of contracting the disease.[17]
### 21st century[edit]
The examples and perspective in this article deal primarily with the United States and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (September 2014) (Learn how and when to remove this template message)
After the Federal Coal Mine Health and Safety Act of 1969 became law in the United States, the percentage of American miners suffering from black lung disease decreased by about 90 percent.[18] More recently, however, rates of the disease have been on the rise. The National Institute for Occupational Safety and Health (NIOSH) reported that close to 9 percent of miners with 25 years or more experience tested positive for black lung in 2005–2006, compared with 4 percent in the late 1990s.[19][20]
New findings have shown that CWP can be a risk for surface coal miners, who are 48% of the workforce. Data from the Coal Workers' Health Surveillance Program of NIOSH, which examined chest X-rays from more than 2,000 miners in 16 US states from 2010–2011, showed that 2% of miners with greater than one year of surface mining experience developed CWP.[21] 0.5% of these miners had PMF. Most of these workers had never worked in an underground mine prior to surface mining. A high proportion of the X-rays suggested that these miners had developed silicosis.
NIOSH, with support from the Mine Safety and Health Administration (MSHA), operates a Mobile Health Screening Program, which travels to mining regions around the United States. Miners who participate in the Program receive health evaluations once every five years, at no cost to themselves. Chest x-rays can detect the early signs of and changes in CWP, often before the miner is aware of any lung problems.[22]
A 2016-17 investigation by National Public Radio found that the National Institute for Occupational Safety and Health had under-reported cases of progressive massive fibrosis (a complication of black lung) by at least a factor of 20. NPR identified over 2,000 cases at certain clinics in Kentucky, Virginia, West Virginia, Pennsylvania, and Ohio, compared to 99 that NIOSH reported.[23][24] NIOSH confirmed in 2018 the largest cluster of PMF ever scientifically documented, despite near-elimination of the disease in the 1990s. The causes of the spike are believed to include longer working shifts, mining of thinner coal seams (which causes mining machines to put more non-coal silica dust in the air), and retirements and layoffs that have prompted more former employees to visit health clinics.[25]
New U.S. Mine Safety and Health Administration rules took effect in August, 2016, that lowered maximum allowed dust concentrations for surface and underground mines, and exposure by miners who have been found to be developing pneumoconiosis.[26]
## Research[edit]
Work to investigate the relationship between respirable dust exposure and coal worker's pneumoconiosis was carried out in Britain by the Institute of Occupational Medicine. This research was known as the Pneumoconiosis Field Research (PFR). The research underpinned the recommendations for more stringent airborne dust standards in British coalmines and the PFR was ultimately used as the basis for many national dust standards around the world.
## See also[edit]
* Medicine portal
* Black Lung Benefits Act of 1972
* Caplan syndrome
## References[edit]
1. ^ "Pneumoconiosis Symptoms, Causes and Risk Factors". American Lung Association. Retrieved 2019-04-25.
2. ^ a b Cotran; Kumar, Collins (1999). Robbins Pathologic Basis of Disease. Philadelphia: W.B Saunders Company. ISBN 978-0-7216-7335-6.
3. ^ "Coal worker's pneumoconiosis: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2019-04-25.
4. ^ Morgan WK (November 1978). "Industrial bronchitis". Br J Ind Med. 35 (4): 285–91. PMC 1008445. PMID 367424.
5. ^ Seixas NS, Robins TG, Attfield MD, Moulton LH (1992). "Exposure-response relationships for coal mine dust and obstructive lung disease following enactment of the Federal Coal Mine Health and Safety Act of 1969". Am. J. Ind. Med. 21 (5): 715–34. doi:10.1002/ajim.4700210511. PMID 1609817.
6. ^ Marine WM, Gurr D, Jacobsen M (January 1988). "Clinically important respiratory effects of dust exposure and smoking in British coal miners". Am. Rev. Respir. Dis. 137 (1): 106–12. doi:10.1164/ajrccm/137.1.106. PMID 3337449.
7. ^ a b GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". Lancet. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442.
8. ^ Richard Valdmanis (19 July 2018). "A tenth of U.S. veteran coal miners have black lung disease:NIOSH". Reuters.
9. ^ Castranova V, Vallyathan V (August 2000). "Silicosis and coal workers' pneumoconiosis". Environ. Health Perspect. 108 (Suppl 4): 675–84. doi:10.1289/ehp.00108s4675. PMC 1637684. PMID 10931786.
10. ^ Vanhée D, Gosset P, Boitelle A, Wallaert B, Tonnel AB (May 1995). "Cytokines and cytokine network in silicosis and coal workers' pneumoconiosis". Eur. Respir. J. 8 (5): 834–42. PMID 7656959.
11. ^ "Pathology standards for coal workers' pneumoconiosis. Report of the Pneumoconiosis Committee of the College of American Pathologists to the National Institute for Occupational Safety and Health". Arch. Pathol. Lab. Med. 103 (8): 375–432. July 1979. PMID 378179.
12. ^ "Diagnosing and Treating Pneumoconiosis". American Lung Association. Retrieved 2019-04-25.
13. ^ "Occupational Lung Diseases". Johns Hopkins Medicine Health Library. Retrieved 2019-04-25.
14. ^ "Respiratory Diseases: Occupational Risks". National Institute for Occupational Safety and Health. 21 December 2012. Retrieved 23 March 2015.
15. ^ Sim, M., Glass, D., Hoy, R., Roberts, M., Thompson, B., Cohen, R., ... & Deponte, K. (2016). Review of Respiratory Component of the Coal Mine Workers Health Scheme for Queensland Department of Natural Resources and Mines. Final Report. Melbourne, Victoria, Australia: Monash Centre for Occupational and Environmental Health, Monash University
16. ^ Mazurek, Jacek M. (2018). "Coal Workers' Pneumoconiosis–Attributable Years of Potential Life Lost to Life Expectancy and Potential Life Lost Before Age 65 Years — United States, 1999–2016". MMWR. Morbidity and Mortality Weekly Report. 67: 819–824. doi:10.15585/mmwr.mm6730a3. ISSN 0149-2195. PMC 6072058. PMID 30070982.
17. ^ Derickson, Alan (January 1998). Black lung: anatomy of a public health disaster. Cornell University Press. ISBN 978-0-8014-3186-9.
18. ^ East, Elyssa (13 December 2018). "Dr Dust: the man who discovered a hidden black lung epidemic". Theguardian.com. Retrieved 13 December 2018.
19. ^ "Black lung on the rise among US coal miners". World Socialist Web Site. January 11, 2010. Retrieved January 11, 2010.
20. ^ "Coal Mine Dust Exposures and Associated Health Outcomes: A Review of Information Published Since 1995" (PDF). Current Intelligence Bulletin. 64. 2011. Retrieved August 18, 2011.
21. ^ Laney AS, Wolfe AL, Petsonk EL, Halldin CN (June 2012). "Pneumoconiosis and advanced occupational lung disease among surface coal miners – 16 states, 2010–2011". MMWR. 61 (23): 431–4. PMID 22695382. Retrieved July 6, 2012.
22. ^ "Enhanced Coal Workers' Health Surveillance Program". National Institute for Occupational Safety and Health. November 12, 2008. Retrieved November 24, 2008.
23. ^ "Advanced Black Lung Cases Surge In Appalachia". Npr.org. Retrieved 13 December 2018.
24. ^ "NPR Continues To Find Hundreds Of Cases Of Advanced Black Lung". Npr.org. Retrieved 13 December 2018.
25. ^ "Black Lung Study Finds Biggest Cluster Ever Of Fatal Coal Miners' Disease". Npr.org. Retrieved 13 December 2018.
26. ^ "Respirable Dust Rule: A Historic Step Forward in the Effort to End Black Lung Disease - Mine Safety and Health Administration (MSHA)". Msha.gov. Retrieved 13 December 2018.
## External links[edit]
* Faces of Black Lung - USDHHS on YouTube
* NIOSH Mining Topic: Respiratory Diseases
* NIOSH Coal Workers' Health Surveillance Program
* Mine Safety and Health Administration
* 42CFR27 Specifications of Medical Examinations of Underground Coal Miners
* Institute of Occupational Medicine's pneumoconiosis research
* 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
Occupational safety and health
Occupational diseases
and injuries
* Acrodynia
* Asbestosis
* Asthma
* Barotrauma
* Berylliosis
* Brucellosis
* Byssinosis ("brown lung")
* Chalicosis
* Chimney sweeps' carcinoma
* Chronic solvent-induced encephalopathy
* Coalworker's pneumoconiosis ("black lung")
* Concussions in sport
* Decompression sickness
* De Quervain syndrome
* Erethism
* Exposure to human nail dust
* Farmer's lung
* Fiddler's neck
* Flock worker's lung
* Glassblower's cataract
* Golfer's elbow
* Hearing loss
* Hospital-acquired infection
* Indium lung
* Laboratory animal allergy
* Lead poisoning
* Mesothelioma
* Metal fume fever
* Mule spinners' cancer
* Noise-induced hearing loss
* Phossy jaw
* Pneumoconiosis
* Radium jaw
* Repetitive strain injury
* Silicosis
* Silo-filler's disease
* Sports injury
* Surfer's ear
* Tennis elbow
* Tinnitus
* Writer's cramp
Occupational hygiene
* Occupational hazard
* Biological hazard
* Chemical hazard
* Physical hazard
* Psychosocial hazard
* Hierarchy of hazard controls
* Prevention through design
* Exposure assessment
* Occupational exposure limit
* Occupational epidemiology
* Workplace health surveillance
Professions
* Environmental health
* Industrial engineering
* Occupational health nursing
* Occupational health psychology
* Occupational medicine
* Occupational therapist
* Safety engineering
Agencies and organizations
* Canadian Centre for Occupational Health and Safety
* European Agency for Safety and Health at Work
* UK Health and Safety Executive
* International Labour Organization
* US National Institute for Occupational Safety and Health
* US Occupational Safety and Health Administration
* National Institute for Safety and Health at Work (Spain)
* World Health Organization
Standards
* Bangladesh Accord
* ISO 45001
* Occupational Safety and Health Convention, 1981
* Worker Protection Standard (US)
* Working Environment Convention, 1977
Safety
* Checklist
* Code of practice
* Contingency plan
* Diving safety
* Emergency procedure
* Emergency evacuation
* Hazard
* Hierarchy of hazard controls
* Hazard elimination
* Administrative controls
* Engineering controls
* Hazard substitution
* Personal protective equipment
* Job safety analysis
* Lockout-tagout
* Permit To Work
* Operations manual
* Redundancy (engineering)
* Risk assessment
* Safety culture
* Standard operating procedure
Legislation
* Diving regulations
* Occupational Safety and Health Act (United States)
See also
* Environment, health and safety
* Environmental toxicology
* Ergonomics
* Health physics
* Indoor air quality
* International Chemical Safety Card
* National Day of Mourning (Canadian observance)
* Process safety management
* Public health
* Risk management
* Safety data sheet
* Toxic tort
* Workers' compensation
* Category
* Occupational diseases
* Journals
* Organizations
* Commons
* Glossary
Authority control
* NARA: 10636607
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Coalworker's pneumoconiosis
|
c0003165
| 27,807 |
wikipedia
|
https://en.wikipedia.org/wiki/Coalworker%27s_pneumoconiosis
| 2021-01-18T19:07:45 |
{"gard": ["8356"], "mesh": ["D055008"], "umls": ["C0003165"], "wikidata": ["Q574329"]}
|
This article is about diabetes mellitus in cats. For other uses, see Diabetes (disambiguation).
Diabetes mellitus is a chronic disease in cats whereby either insufficient insulin response or insulin resistance leads to persistently high blood glucose concentrations. Diabetes affects up to 1 in 230 cats,[1] and may be becoming increasingly common. Diabetes mellitus is less common in cats than in dogs. Eighty to ninety-five percent of diabetic cats experience something similar to type 2 diabetes but are generally severely insulin dependent by the time symptoms are diagnosed. The condition is treatable, and if treated properly the cat can experience a normal life expectancy. In type 2 cats, prompt effective treatment may lead to diabetic remission, in which the cat no longer needs injected insulin. Untreated, the condition leads to increasingly weak legs in cats and eventually to malnutrition, ketoacidosis and/or dehydration, and death.
## Contents
* 1 Symptoms
* 1.1 Diabetic emergencies
* 1.2 Complications
* 2 Causes
* 3 Management
* 3.1 Diet
* 3.2 Medications
* 3.3 Insulin
* 3.3.1 Dosage and regulation
* 3.3.2 Blood sugar guidelines
* 3.3.3 Somogyi rebound
* 3.3.4 Hypoglycemia
* 4 Remission
* 5 Epidemiology
* 6 References
* 7 External links
## Symptoms[edit]
Cats will generally show a gradual onset of the disease over a few weeks or months, and it may escape notice for even longer.[2]
The first outward symptoms are a sudden weight loss (or occasionally gain) accompanied by excessive drinking and urination; for example, cats can appear to develop an obsession with water and lurk around faucets or water bowls. Appetite is suddenly either ravenous (up to three times normal) or absent. These symptoms arise from the body's inability to use glucose as an energy source.
A fasting glucose blood test will normally be suggestive of diabetes at this point. The same home blood test monitors used in humans are used on cats, usually by obtaining blood from the ear edges or paw pads. As the disease progresses, ketone bodies will be present in the urine, which can be detected with the same urine strips as in humans.
In the final stages, the cat starts wasting, with the body breaking down its own fat and muscle to survive. Lethargy/limpness and acetone-smelling breath are acute symptoms of ketoacidosis and/or dehydration and constitute a medical emergency.
Untreated, diabetes leads to coma and then death.
### Diabetic emergencies[edit]
Too little insulin over time can cause tissue starvation, as glucose cannot reach the brain or body. In combination with dehydration, fasting, infection, or other body stresses, the condition may progress to diabetic ketoacidosis, a medical emergency with a high fatality rate that cannot be treated at home. Symptoms include lethargy, a fruit-like smell of the breath or urine, shortness of breath, and an increase in thirst. Emergency care includes fluid therapy, insulin, management of presenting symptoms and 24-hour hospitalization.
### Complications[edit]
The back legs may become weak and the gait may become stilted or wobbly owing to diabetic neuropathy, which is caused by damage to the myelin sheath of the peripheral nerves due to glucose toxicity and cell starvation, which are in turn caused by chronic hyperglycemia.[3] Most common in cats, the back legs become weaker until the cat displays a plantigrade stance, standing on its hocks instead of on its toes as normal. The cat may also have trouble walking and jumping and may need to sit down after a few steps. Neuropathy sometimes heals on its own within 6–10 weeks once blood sugar is regulated.
## Causes[edit]
The signs of diabetes mellitus are caused by a persistently high blood glucose concentration, which may be caused by either insufficient insulin or by a lack of response to insulin.[4] Most cats have a type of diabetes mellitus similar to human diabetes mellitus type 2, with β-cell dysfunction and insulin resistance.[5] Factors which contribute to insulin resistance include obesity and endocrine diseases such as acromegaly.[5] Acromegaly affects 20–30% of diabetic cats; it can be diagnosed by measuring the concentration of insulin-like growth factor-1 (IGF-1) in the blood.[6]
## Management[edit]
Diabetes can be treated but is life-threatening if left alone. Early diagnosis and treatment by a qualified veterinarian can help in preventing nerve damage, and, in rare cases, lead to remission.[7] Cats do best with long-lasting insulin and low carbohydrate diets. Because diabetes is a disease of carbohydrate metabolism, a move to a primarily protein and fat diet reduces the occurrence of hyperglycemia.
### Diet[edit]
Diet is a critical component of treatment and is in many cases effective on its own. For example, a recent mini-study[8] showed that many diabetic cats stopped needing insulin after changing to a low carbohydrate diet. The rationale is that a low-carbohydrate diet reduces the amount of insulin needed and keeps the variation in blood sugar low and easier to predict. Also, fats and proteins are metabolized slower than carbohydrates, reducing dangerous blood sugar peaks right after meals.
Recent recommended diets are trending towards a low-carbohydrate diet for cats[9][10] rather than the formerly recommended high-fiber diet. Carbohydrate levels are highest in dry cat foods made out of grains (even the expensive "prescription" types), so cats are better off with a canned diet that is protein and fat focused.[11] Both prescription canned foods made for diabetic cats and regular brand foods are effective. Owners should aim to supply no more than 10% of the daily energy requirement of cats with carbohydrates.
### Medications[edit]
Oral medications like Glipizide that stimulate the pancreas, promoting insulin release (or in some cases, reduce glucose production), are less and less used in cats,[12] and these drugs may be completely ineffective if the pancreas is not working. These drugs have also been shown in some studies[13] to damage the pancreas further or to cause liver damage. Some owners are reluctant to switch from pills to insulin injections, but the fear is unjustified; the difference in cost and convenience is minor (most cats are easier to inject than to pill), and injections are more effective at treating the disease.
### Insulin[edit]
The method usually employed is a dose of slow-acting insulin twice daily to keep the blood sugar within a recommended range for the entire day. With this method, it is important for the cat to avoid large meals or high-carbohydrate food. Meals may also be timed to coincide with peak insulin activity. Once-daily doses are not recommended,[14] since insulin usually metabolizes faster in cats than in humans or dogs.[15] For example, an insulin brand that lasts 24 hours in people may only be effective for about 12 in a cat.[16]
Cats may be treated with animal insulin (bovine-based insulin is most similar to cat insulin) or with human synthetic insulin. The best choice of insulin brand and type varies from animal to animal and may require some trial and error. The human synthetic insulin, Humulin N /Novolin N/ NPH, is usually a poor choice for cats,[16] since cats metabolize insulin about twice as fast. The Lente and Ultralente versions were popular for feline use until summer 2005, when they were discontinued.
Until the early 1990s, the most recommended type for pets was bovine/porcine-derived PZI,[17] but that type was phased out over the 1990s and is now difficult to find in many countries. There are sources in the US and UK, and many vets are now starting to recommend them again for pets, but they have been discontinued by most manufacturers as of 2007[update]-2008. A new synthetic PZI analogue called ProZinc is now available.
Caninsulin (known in the US as Vetsulin) is a brand of porcine-based insulin approved for cats which is available with a veterinarian's prescription. According to the manufacturer's website, the insulin's action profile in cats was similar to that of NPH insulin, and it lowered blood sugar quickly, but for only about 6–8 hours. Vetsulin was recalled in the US in November 2009 due to inconsistent strength; it was available again as of April 2013[update].[18]
Two ultra-slow time-release synthetic human insulins became available in 2004 and 2005, generically known as insulin detemir (Levemir) and insulin glargine (Lantus). Studies have had good results with insulin glargine in cats.[19] Follow-up research [20] shows that Levemir can be used with a similar protocol and that either insulin on this protocol can lead uncomplicated feline cases to remission, with the most success being in cats who start on these protocols as soon as possible after diagnosis.
#### Dosage and regulation[edit]
Cats may have their mealtimes strictly scheduled and planned to match with injection times, especially when on insulin with a pronounced peak action like Caninsulin/Vetsulin or Humulin N. If the cat free-feeds and normally eats little bits all day or night, it may be best to use a very slow-acting insulin to keep a constant level of blood glucose. Some veterinarians still use the outdated recommendation of using Humulin "N" or NPH insulin for cats, which is very fast-acting for most cats.[14] The slower-acting Lente and Ultralente (Humulin L and Humulin U) insulins were discontinued in 2005), so most cats are treated with either the veterinary PZI insulins or the new full-day analogs glargine (Lantus) and detemir (Levemir).
The first goal is to regulate the cat's blood glucose by keeping the blood glucose values in a comfortable range for the cat during most of the day. This may take a few weeks to achieve.
The most successful documented method is tight regulation with Lantus or Levemir.[21]
Typical obstacles to regulation include:
* Chronic overdose masked by Somogyi: A dose that is too high may cause a Somogyi rebound, which can look like a need for more insulin. This condition can continue for days or weeks.
* High-carbohydrate cat food: Many commercial foods (especially "light" foods) are very high in carbohydrates. The extra carbohydrates keep the cat's blood sugar high. In general, canned foods are lower in carbohydrates than dry foods, and canned "kitten" foods lower still. Diabetes in cats can be better regulated and even sometimes reversed with a low-carbohydrate diet.[22]
* Inappropriate insulin: Different brands and types of insulin have idiosyncratic effects on different cats. With some dosages, the insulin may not last long enough for the cat. Testing blood sugar more frequently can determine if the insulin is controlling the blood sugar concentration throughout the day.
#### Blood sugar guidelines[edit]
Taking a blood sample from a cat's ear to measure blood glucose concentration on a glucometer.
Absolute numbers vary between pets, and with meter calibrations. Glucometers made for humans are generally accurate using feline blood except when reading lower ranges of blood glucose (<80 mg/dl–4.44 mmol/L). At this point the size difference in human and animal red blood cells can create inaccurate readings.[23]
#### Somogyi rebound[edit]
Too much insulin may result in a contradictory increase of blood glucose. This "Somogyi effect" is often noted by cat owners who monitor their cat's blood glucose at home. Any time the blood glucose level drops too far to hypoglycemia, the body may defensively dump glucose (converted from glycogen in the liver), as well as hormones epinephrine and cortisol, into the bloodstream. The glycogen raises the blood glucose, while the other hormones may make the cat insulin-resistant for a time. If the body has no glycogen reserves, there will be no rebound effect and the cat will just be hypoglycemic.[24]
Even a small overdose can trigger a rebound effect. (A typical case is increasing twice-daily dosage from 1 unit to 2, passing a correct dose of 1.5 units.)
Rebound hyperglycemia occurs rarely in cats treated with glargine in a protocol aiming for tight control of blood glucose concentrations.[25]
#### Hypoglycemia[edit]
An acute hypoglycemic episode (very low blood sugar) can happen to even careful pet owners, since cats' insulin requirements sometimes change without warning. The symptoms include depression/lethargy, confusion/dizziness, loss of excretory/bladder control, vomiting, and then loss of consciousness and/or seizures. Immediate treatment includes administering honey or corn syrup by rubbing on the gums of the cat (even if unconscious, but not if in seizures). Symptomatic hypoglycemia in cats is a medical emergency and the cat will require professional medical attention. The honey/corn syrup should continue to be administered on the way to the vet, as every minute without blood sugar causes brain damage.
A cat with hypoglycemia according to a blood glucose meter (<2.2 mmol/L or 40 mg/dL), but with no symptoms, should be fed as soon as possible. Hypoglycemic cats that refuse to eat can be force-fed honey or corn syrup until they stabilize.
Mild hypoglycemic episodes can go unnoticed or leave evidence such as urine pools outside the litter box. In these cases the blood sugar will probably appear paradoxically high upon the next test hours later, since the cat's body will react to the low blood sugar by stimulating the liver to release stored glycogen.
## Remission[edit]
Remission occurs when a cat no longer requires treatment for diabetes mellitus and has normal blood glucose concentrations for at least a month.[26]
Approximately one in four cats with type 2-like diabetes achieves remission. Some studies have reported a higher remission rate than this, which may in part be due to intensive monitoring that is impractical outside of a research environment. Research studies have implicated a variety of factors in successful remission; in general, the following factors increase the likelihood of remission:[26]
* Diabetes was diagnosed a few months ago
* The cat has no other serious disease
* Treatment includes insulin glargine administered twice daily
* The cat is monitored frequently during the first few months of treatment
* The cat eats a diet low in carbohydrates and high in protein.
Cats may present with type 2 (insulin-resistant) diabetes, at least at first, but hyperglycemia and amyloidosis, left untreated, will damage the pancreas over time and progress to insulin-dependent diabetes.[27]
Glipizide and similar oral diabetic medicines designed for type 2 diabetic humans have been shown to increase amyloid production and amyloidosis and therefore may reduce likelihood of remission.[13]
Approximately one-third of cats who achieve remission will later relapse.[26]
## Epidemiology[edit]
Diabetes mellitus is rare in cats younger than five years old.[28] Typically, affected cats are obese.[29] Burmese cats in Europe and Australia have increased risk of developing diabetes mellitus; American Burmese cats do not have this increased risk due to genetic differences between American Burmese and Burmese in other parts of the world.[30]
## References[edit]
1. ^ McCann, Theresa M; Simpson, Kerry E; Shaw, Darren J; Butt, Jennifer A; Gunn-Moore, Danielle A (August 2007). "Feline diabetes mellitus in the UK: The prevalence within an insured cat population and a questionnaire-based putative risk factor analysis". Journal of Feline Medicine and Surgery. 9 (4): 289–299. doi:10.1016/j.jfms.2007.02.001. PMID 17392005.
2. ^ Rand, Fleeman, Farrow, Appleton, Lederer (2004). "Canine and Feline Diabetes Mellitus: Nature or Nurture?". The Journal of Nutrition. 134 (8): 2072S–2080S. doi:10.1093/jn/134.8.2072S. PMID 15284406.CS1 maint: multiple names: authors list (link)
3. ^ Logical Approach to Weakness and Seizures-David B. Church-WSAVA 2009
4. ^ Rand, Jacquie S. (March 2013). "Pathogenesis of feline diabetes". Veterinary Clinics of North America: Small Animal Practice. 43 (2): 221–231. doi:10.1016/j.cvsm.2013.01.003. PMID 23522168.
5. ^ a b Sparkes, AH; Cannon, M; Church, D; Fleeman, L; Harvey, A; Hoenig, M; Peterson, ME; Reusch, CE; Taylor, S; Rosenberg, D (March 2015). "ISFM consensus guidelines on the practical management of diabetes mellitus in cats". Journal of Feline Medicine and Surgery. 17 (3): 235–50. doi:10.1177/1098612X15571880. PMID 25701862.
6. ^ Niessen, Stijn J. M.; Forcada, Yaiza; Mantis, Panagiotis; Lamb, Christopher R.; Harrington, Norelene; Fowkes, Rob; Korbonits, Márta; Smith, Ken; Church, David B. (29 May 2015). "Studying Cat ( Felis catus ) Diabetes: Beware of the Acromegalic Imposter". PLOS ONE. 10 (5): e0127794. doi:10.1371/journal.pone.0127794. ISSN 1932-6203. PMC 4449218. PMID 26023776.
7. ^ Insulin Glargine and a high protein-low carbohydrate diet are associated with high remission rates in newly diagnosed diabetic cats.
8. ^ Study Shows 'Catkins' Diet Helps Cats Beat Diabetes
9. ^ Frank GR, Anderson W, Pazak H, Hodgkins E, Ballam J, Laflamme D (2001). "Use of a High Protein Diet in the Management of Feline Diabetes Mellitus". Veterinary Therapeutics. 2 (3): 238–46. PMID 19746667.
10. ^ Bennett N, Greco DS, Peterson ME, Kirk C, Mathes M, Fettman MJ (April 2006). "Comparison of a low carbohydrate-low fiber diet and a moderate carbohydrate-high fiber diet in the management of feline diabetes mellitus". J. Feline Med. Surg. 8 (2): 73–84. doi:10.1016/j.jfms.2005.08.004. PMID 16275041.
11. ^ Dr. Lisa Pierson, Know the Basics of Feline Nutrition
12. ^ Veterinary Partner-Insulin Alternatives
13. ^ a b Hoenig M, Hall G, Ferguson D, et al. (1 December 2000). "A feline model of experimentally induced islet amyloidosis". Am. J. Pathol. 157 (6): 2143–50. doi:10.1016/s0002-9440(10)64852-3. PMC 1885761. PMID 11106586.|date= December 2019 |bot=InternetArchiveBot |fix-attempted=yes }}
14. ^ a b Wallace MS, Peterson ME, Nichols CE (October 1990). "Absorption kinetics of regular, isophane, and protamine zinc insulin in normal cats". Domest. Anim. Endocrinol. 7 (4): 509–15. doi:10.1016/0739-7240(90)90008-N. PMID 2261761.
15. ^ Goeders LA, Esposito LA, Peterson ME (January 1987). "Absorption kinetics of regular and isophane (NPH) insulin in the normal dog". Domest. Anim. Endocrinol. 4 (1): 43–50. doi:10.1016/0739-7240(87)90037-3. PMID 3333933.
16. ^ a b Moise NS, Reimers TJ (January 1983). "Insulin therapy in cats with diabetes mellitus". J. Am. Vet. Med. Assoc. 182 (2): 158–64. PMID 6298164.
17. ^ "PZI Insulin Information for Cats".
18. ^ "Vetsulin®: Insulin for Diabetes in Dogs and Cats".
19. ^ "Glargine (Lantus) insulin and feline diabetes remission".
20. ^ Roomp K, Rand KS (2008). "Research Abstract Program of the 26th Annual ACVIM Forum San Antonio, TX, June 4 - June 7, 2008" (PDF). J Vet Intern Med. 22 (3): 791. doi:10.1111/j.1939-1676.2008.0103.x. Archived from the original (PDF) on 2010-02-15. Retrieved 2009-11-14.
21. ^ Roomp K, Rand J (2009). "Intensive blood glucose control is safe and effective in diabetic cats using home monitoring and treatment with glargine". J Feline Med Surg. 11 (8): 668–82. doi:10.1016/j.jfms.2009.04.010. hdl:11858/00-001M-0000-0019-FA20-B. PMID 19592286.
22. ^ "Archived copy". Archived from the original on 2005-03-13. Retrieved 2005-03-15.CS1 maint: archived copy as title (link)
23. ^ Diabetes Mellitus-Glucometers-Dr. William A. Schall-ACVIM-DVM 360 2009
24. ^ Somogyi Phenomenon at eMedicine
25. ^ Roomp, K.; Rand, J. (4 June 2015). "Rebound hyperglycaemia in diabetic cats". Journal of Feline Medicine and Surgery. 18 (8): 587–596. doi:10.1177/1098612X15588967. PMID 26045481.
26. ^ a b c Reusch, EC (2015). "Chapter 7: Feline diabetes mellitus". In Feldman, EC; Nelson, RW; Reusch, C; Scott-Moncrieff, JC (eds.). Canine and Feline Endocrinology (4th ed.). Elsevier. pp. 258–314. ISBN 9781455744565.
27. ^ Hayden, MR (September 2002). "Islet amyloid, metabolic syndrome, and the natural progressive history of type 2 diabetes mellitus". Journal of the Pancreas. 3 (5): 126–38. PMID 12221327.
28. ^ Reusch, C (2009). "Chapter 291: Feline diabetes mellitus". In Ettinger, SJ; Feldman, EC (eds.). Textbook of Veterinary Internal Medicine (7th ed.). Elsevier Health Sciences. pp. 1796–1816. ISBN 9781437702828.
29. ^ Osto, M.; Zini, E.; Reusch, C.E.; Lutz, T.A. (1 February 2013). "Diabetes from humans to cats" (PDF). General and Comparative Endocrinology. 182: 48–53. doi:10.1016/j.ygcen.2012.11.019. PMID 23247272.
30. ^ O'Neill, DG; Gostelow, R; Orme, C; Church, DB; Niessen, SJ; Verheyen, K; Brodbelt, DC (July 2016). "Epidemiology of diabetes mellitus among 193,435 cats attending primary-care veterinary practices in England". Journal of Veterinary Internal Medicine. 30 (4): 964–72. doi:10.1111/jvim.14365. PMC 5094533. PMID 27353396.
## External links[edit]
Wikimedia Commons has media related to Cat diseases.
* Everything About Cat Diabetes
Authority control
* LCCN: sh2014000115
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Diabetes in cats
|
None
| 27,808 |
wikipedia
|
https://en.wikipedia.org/wiki/Diabetes_in_cats
| 2021-01-18T18:43:06 |
{"wikidata": ["Q389913"]}
|
## Description
The accumulation of excess triglyceride in the liver, a condition known as hepatic steatosis (or fatty liver), is associated with adverse metabolic consequences including insulin resistance and dyslipidemia. Factors promoting deposition of fat in the liver include obesity, diabetes, insulin resistance, and alcohol ingestion. Nonalcoholic fatty liver disease (NAFLD) is the most common form of liver disease in Western countries. In a subset of individuals hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer (summary by Romeo et al., 2008).
Cohen et al. (2011) reviewed nonalcoholic fatty liver disease.
### Genetic Heterogeneity of Nonalcoholic Fatty Liver Disease
Another form of nonalcoholic fatty liver disease (NAFLD2; 613387) has been associated with variation in the APOC3 gene (107720).
Mapping
### Nonalcoholic Fatty Liver Disease
In a genomewide association study of 1,032 African American, 696 European American, and 383 Hispanic individuals who obtained proton magnetic resonance spectroscopy of the liver to evaluate hepatic fat content, Romeo et al. (2008) found a significant association between hepatic fat content and rs738409 in the PNPLA3 gene (609567) on chromosome 22q13 (p = 5.9 x 10 (-10)). The variant is a C-to-G transversion resulting in an ile148-to-met (I148M) substitution. There was also a significant association between this SNP and hepatic inflammation (p = 3.7 x 10 (-4)). The association between rs738409 and hepatic fat content remained highly significant (p = 7.0 x 10(-14)) after adjustment for body mass index (BMI), diabetes status, ethanol use, as well as global and local ancestry, indicating that the allele is not associated with major alterations in glucose homeostasis or lipoprotein metabolism. Further screening identified a second variant in the PNPLA3 gene (rs6006460), resulting in a ser453-to-ile (S453I) substitution, that was associated with a significantly lower liver fat content particularly in African Americans. The effect of this variant was independent from that of rs738409.
### Alcoholic Liver Disease
Tian et al. (2010) investigated the contributions of variants in the PNPLA3 gene to liver disease in Mestizo subjects with a history of alcohol dependence (103780). Tian et al. (2010) genotyped 305 individuals with a history of alcohol dependence but apparently normal liver function (controls), 434 with intermediate alcoholic liver disease (ALD), and 482 with clinically evident alcoholic cirrhosis. Diagnoses were based on biochemical and clinical assessments supported by imaging, with histologic confirmation. Tian et al. (2010) found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted odds ratio = 2.25, P = 1.7 x 10(-10); ancestry-adjusted odds ratio = 1.79, P = 1.9 x 10(-5)). Further tests showed no association of rs738409 with other covariates such as age, alcohol intake, and duration of intake. Tian et al. (2010) concluded that the rs738409 variant accounts for a substantial share of the increased risk of cirrhosis associated with Hispanic ancestry. They stated that the effect size of rs738409 is large for an association with complex disease in humans and may be the largest known genetic modifier for a disease that is a major cause of preventable death.
Population Genetics
The propensity to develop hepatic steatosis differs among ethnic groups, with African-Americans having a lower (24%) and Hispanics a higher (45%) frequency of the disorder than European-Americans (33%) in a study of a large American urban population (Browning et al., 2004). Hispanics also have a higher prevalence of steatohepatitis and cirrhosis, whereas African-Americans are less prone to develop liver failure (Browning et al., 2004).
Pathogenesis
Henao-Mejia et al. (2012) demonstrated that NLRP6 (609650) and NLRP3 (606416) inflammasomes and the effector protein IL18 (600953) negatively regulate nonalcoholic fatty liver disease/nonalcoholic steatohepatitis progression, as well as multiple aspects of metabolic syndrome via modulation of the gut microbiota. Different mouse models revealed that inflammasome deficiency-associated changes in the configuration of the gut microbiota are associated with exacerbated hepatic steatosis and inflammation through influx of TLR4 (603030) and TLR9 (605474) agonists into the portal circulation, leading to enhanced hepatic tumor necrosis factor (TNF)-alpha (191160) expression, which drives NASH progression. Furthermore, cohousing of inflammasome-deficient mice with wildtype mice resulted in exacerbation of hepatic steatosis and obesity. Thus, Henao-Mejia et al. (2012) concluded that altered interactions between the gut microbiota and the host, produced by defective NLRP3 and NLRP6 inflammasome sensing, may govern the rate of progression of multiple metabolic syndrome-associated abnormalities, highlighting the central role of the microbiota in the pathogenesis of theretofore seemingly unrelated systemic autoinflammatory and metabolic disorders.
Ma et al. (2016) demonstrated, in mouse models and human samples, that dysregulation of lipid metabolism in NAFLD causes a selective loss of intrahepatic CD4+ but not CD8+ T lymphocytes, leading to accelerated hepatocarcinogenesis. They also showed that CD4+ T lymphocytes have greater mitochondrial mass than CD8+ T lymphocytes and generate higher levels of mitochondrially derived reactive oxygen species (ROS). Disruption of mitochondrial function by linoleic acid, a fatty acid accumulated in NAFLD, causes more oxidative damage than other free fatty acids such as palmitic acid, and mediates selective loss of intrahepatic CD4+ T lymphocytes. In vivo blockade of ROS reversed NAFLD-induced hepatic CD4+ T lymphocyte decrease and delayed NAFLD-promoted hepatocellular carcinoma. Ma et al. (2016) concluded that their results provided an unexpected link between lipid dysregulation and impaired antitumor surveillance.
INHERITANCE \- Multifactorial ABDOMEN Liver \- Fatty liver (hepatic steatosis), nonalcoholic MISCELLANEOUS \- Genetic heterogeneity ▲ 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
|
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
|
c2750441
| 27,809 |
omim
|
https://www.omim.org/entry/613282
| 2019-09-22T15:59:06 |
{"omim": ["613282"]}
|
Phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Specific phobia" – news · newspapers · books · scholar · JSTOR (August 2009) (Learn how and when to remove this template message)
Specific phobia is an anxiety disorder, characterized by an unreasonable fear associated with a specific object or situation. Specific phobia can lead to avoidance of the object or situation, persistence of the fear, and significant distress or problems functioning associated with the fear.[1]
The fear or anxiety may be triggered both by the presence and the anticipation of the specific object or situation. In most adults, the person may logically know the fear is unreasonable but still find it difficult to control the anxiety. Thus, this condition may significantly impair the person's functioning and even physical health.
The cause of specific phobias can vary based on the phobia itself, but can include genetics, environmental influences, conditioning, and other indirect pathways.[2] Causes can be both experiential and non-experiential; for example, there appears to be a stronger genetic component to blood-injection-injury phobias compared to animal phobias, which are more likely to stem from an experience.[3]
## Contents
* 1 Signs and Symptoms
* 2 Diagnosis
* 2.1 Types
* 3 Treatment
* 3.1 Pharmacotherapeutics
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Signs and Symptoms[edit]
A person who encounters that of which they are phobic will often show signs of fear or express discomfort.[4] In some cases, it can result in a panic attack.[4] The fear or anxiety associated with specific phobia can manifest in physical symptoms such as an increased heart rate, shortness of breath, muscle tension, or sweating.[5]
## Diagnosis[edit]
Specific Phobia – DSM 5 Criteria[6]
* Fear or anxiety about a specific object or situation (In children fear/anxiety can be expressed by crying, tantrums, freezing, or clinging)
* The phobic object or situation almost always provokes immediate fear or anxiety
* The phobic object or situation is avoided or endured with intense fear or anxiety
* The fear or anxiety is out of proportion to the actual danger posed by the specific object or situation and to the sociocultural context
* The fear, anxiety, or avoidance is persistent, typically lasting for 6 months or more
* The fear, anxiety, or avoidance causes clinically significant distress or impairment in social, occupational, or other important areas of functioning
* The disturbance is not better explained by symptoms of another mental disorder, including fear, anxiety, and avoidance of situations associated with panic-like symptoms or other incapacitating symptoms; objects or situations related to obsessions; reminders of traumatic events; separation from home or attachment figures; or social situations
### Types[edit]
According to the fifth revision of the Diagnostic and Statistical Manual of Mental Disorders, phobias can be classified under the following general categories:
* Animal type – Fear of spiders, insects, dogs
* Natural environment type – Fear of water (aquaphobia), heights (acrophobia), lightning and thunderstorms (astraphobia), or aging (gerascophobia).
* Situational type – Fear of small confined spaces (claustrophobia), or the dark (nyctophobia).
* Blood/injection/injury type – this includes fear of medical procedures, including needles and injections (trypanophobia), fear of blood (hemophobia) and fear of getting injured.[7]
* Other – children's fears of loud sounds or costumed characters.[8]
## Treatment[edit]
Cognitive behavioral therapy (CBT), a short term, skills-focused therapy that aims to help people diffuse unhelpful emotional responses by helping people consider them differently or change their behavior, is effective in treating specific phobias.[9] Exposure therapy is a particularly effective form of CBT for many specific phobias, however, treatment acceptance and high drop-out rates have been noted as concerns.[10] Other interventions have been successful for particular types of specific phobia, such as virtual reality exposure therapy (VRET) for spider, dental, and height phobias, applied muscle tension (AMT) for needle phobia, and psychoeducation with relaxation exercises for fear of childbirth.[11]
### Pharmacotherapeutics[edit]
As of late 2020, there is limited evidence for the use of pharmacotherapy in the treatment of specific phobia.[medical citation needed] The selective serotonin re-uptake inhibitors (SSRIs), paroxetine and escitalopram, have shown preliminary efficacy in small randomized controlled clinical trials.[4] However, these trials were too small to show any definitive benefits of anxiolytic medication alone in treating phobia.[12] Benzodiazepines are occasionally used for acute symptom relief, but have not been shown to be effective for long term treatment.[12] There are some findings suggesting that adjuvant use of the NMDA receptor partial agonist, d-cycloserine, with virtual reality exposure therapy may improve specific phobia symptoms more than virtual reality exposure therapy alone. As of 2020, studies on the use of adjunct d-cycloserine are inconclusive.[12]
## Epidemiology[edit]
Specific phobia affects up to 12% of people at some point in their life.[13] Specific phobias have a lifetime prevalence rate of 7.4% and a one-year prevalence of 5.5% according to data collected from 22 different countries.[14] In the USA, the lifetime prevalence rate is 12.5% and a one-year prevalence rate of 9.1%.[14] The usual age of onset is childhood to adolescence. Women are twice as likely to experience specific phobias compared with men.[15]
## See also[edit]
* List of phobias
## References[edit]
1. ^ Eaton WW, Bienvenu OJ, Miloyan B (August 2018). "Specific phobias". The Lancet. Psychiatry. 5 (8): 678–686. doi:10.1016/S2215-0366(18)30169-X. PMC 7233312. PMID 30060873.
2. ^ Muris P, Merckelbach H (2012). "Specific Phobia: Phenomenology, Epidemiology, and Etiology". In Davis III TE, Ollendick TH, Öst LG (eds.). Intensive One-Session Treatment of Specific Phobias. Autism and Child Psychopathology Series. New York, NY: Springer. pp. 3–18. doi:10.1007/978-1-4614-3253-1_1. ISBN 978-1-4614-3253-1.
3. ^ Shimada-Sugimoto M, Otowa T, Hettema JM (July 2015). "Genetics of anxiety disorders: Genetic epidemiological and molecular studies in humans". Psychiatry and Clinical Neurosciences. 69 (7): 388–401. doi:10.1111/pcn.12291. PMID 25762210.
4. ^ a b c Katzman MA, Bleau P, Blier P, Chokka P, Kjernisted K, Van Ameringen M, et al. (2014). "Canadian clinical practice guidelines for the management of anxiety, posttraumatic stress and obsessive-compulsive disorders". BMC Psychiatry. 14 Suppl 1 (Suppl 1): S1. doi:10.1186/1471-244X-14-S1-S1. PMC 4120194. PMID 25081580.
5. ^ LeBeau RT, Glenn D, Liao B, Wittchen HU, Beesdo-Baum K, Ollendick T, Craske MG (February 2010). "Specific phobia: a review of DSM-IV specific phobia and preliminary recommendations for DSM-V". Depression and Anxiety. 27 (2): 148–67. doi:10.1002/da.20655. PMID 20099272.
6. ^ American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: Author.
7. ^ ^ a b c d e "Oxford Textbook of Psychopathology" by Theodore Millon, Paul H. Blaney, Roger D. Davis (1999) ISBN 0-19-510307-6, p. 82
8. ^ DSM-IV-TR 300.29, p. 445.
9. ^ Kaczkurkin AN, Foa EB (September 2015). "Cognitive-behavioral therapy for anxiety disorders: an update on the empirical evidence". Dialogues in Clinical Neuroscience. 17 (3): 337–46. PMC 4610618. PMID 26487814.
10. ^ Choy Y, Fyer AJ, Lipsitz JD (April 2007). "Treatment of specific phobia in adults". Clinical Psychology Review. 27 (3): 266–86. doi:10.1016/j.cpr.2006.10.002. PMID 17112646.
11. ^ Thng CE, Lim-Ashworth NS, Poh BZ, Lim CG (2020-03-19). "Recent developments in the intervention of specific phobia among adults: a rapid review". F1000Research. 9: 195. doi:10.12688/f1000research.20082.1. PMC 7096216. PMID 32226611.
12. ^ a b c Baldwin DS, Anderson IM, Nutt DJ, Allgulander C, Bandelow B, den Boer JA, et al. (May 2014). "Evidence-based pharmacological treatment of anxiety disorders, post-traumatic stress disorder and obsessive-compulsive disorder: a revision of the 2005 guidelines from the British Association for Psychopharmacology". Journal of Psychopharmacology. 28 (5): 403–39. doi:10.1177/0269881114525674. PMID 24713617.
13. ^ Craske MG, Stein MB (December 2016). "Anxiety". Lancet. 388 (10063): 3048–3059. doi:10.1016/S0140-6736(16)30381-6. PMID 27349358.
14. ^ a b Wardenaar KJ, Lim CC, Al-Hamzawi AO, Alonso J, Andrade LH, Benjet C, et al. (July 2017). "The cross-national epidemiology of specific phobia in the World Mental Health Surveys". Psychological Medicine. 47 (10): 1744–1760. doi:10.1017/S0033291717000174. PMC 5674525. PMID 28222820.
15. ^ Cameron, Alasdair (2004). Crash Course Psychiatry. Elsevier Ltd. ISBN 978-0-7234-3340-8.
## External links[edit]
* Encyclopedia of Mental Disorders – Specific phobias
Classification
D
* ICD-10: F40.2
* ICD-9-CM: 300.29
* MeSH: C562465 C562465, C562465
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Specific phobia
|
c0236801
| 27,810 |
wikipedia
|
https://en.wikipedia.org/wiki/Specific_phobia
| 2021-01-18T18:55:28 |
{"mesh": ["C562465"], "umls": ["C0236801"], "icd-9": ["300.29"], "wikidata": ["Q2015728"]}
|
For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).
Clinical Features
In a study of palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten), Gamborg Nielsen (1985) observed a seemingly recessive and unusually severe form that differed from the picture of mal de Meleda (248300) in 6 patients from 2 families. Affected individuals had a very thick horny layer with a distinct demarcation to normal skin, bordered by a bluish-red zone in 4 patients; in 1 patient the hyperkeratosis extended to the dorsum of the hand. Knuckle pads were found on the dorsal finger joints. Three of the patients had dermatophytosis on their soles, and 1 had mutilating palmoplantar keratoderma.
Kastl et al. (1990) studied 5 patients from 3 Swedish families with diffuse palmoplantar keratoderma. Affected individuals showed a very thick horny layer, with the transition to normal skin distinctly demarcated by a bluish-red border. Some patients exhibited transgression of the hyperkeratoses to the dorsum of the hands and feet. Knuckle pads were present on the dorsal finger and toe joints. Elbows and knees were uninvolved, hair and teeth were normal, and there was no mental retardation. Biopsies of hyperkeratotic skin from the soles of affected individuals showed a highly acanthotic epidermis with a focally broadened granular layer and an increased amount of tonofibrils. Keratohyalin granules were unevenly distributed within the granular cells. Between the granular and horny layers several 'clear cells' were seen, which had a more loosely arranged cell content and lower amount of tonofibrils than the adjacent granular cells. The horny layer was orthohyperkeratotic and there were occasional spinelike protrusions of granular cells into the horny layer. Ultrastructural findings included an increase in the amount of tonofibrils, beginning in the mid-spinous layer and reaching a maximum in the upper stratum granulosum. The granular layer consisted of up to 11 cell layers, with neighboring cells showing considerable variation in amount, size, and ultrastructure of keratohyaline granules. Cells of the granular, transit, and horny layer possessed some lipid droplets, and desmosomes had already transformed into desmosomal discs beginning in the upper granular layers. In addition to lipid droplets, the lower horny cells often contained cell remnants or granular material, and had thickened plasma membranes. The cells themselves were intensely interlocked and thicker than normal, and chains of desmosomal discs could be detected in the intercellular spaces. Skin biopsies from clinically unaffected obligatory heterozygotes showed no changes by light microscopy, but 4 of the 5 individuals examined exhibited ultrastructural alterations, including an unbalanced distribution of tonofibrils within cells of the spinous and granular layers, with differences in amount and aggregation. Variable amounts of keratohyalin were found in the granular layer and the granules showed a spongy texture with different sizes of less electron-dense areas and sometimes a granular border as well.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Palmoplantar keratoderma \- Bluish-red border demarcating transition to normal skin \- Transgression of hyperkeratosis to dorsum of hands and feet (in some patients) \- Knuckle pads on dorsal finger and toe joints Skin Histology \- Acanthosis, marked \- Granular layer focally broadened \- Tonofibrils increased \- Orthohyperkeratosis of horny layer Electron Microscopy \- Tonofibrils increased \- Thickened granular layer \- Variation in amount, size, and ultrastructure of keratohyaline granules \- Desmosomal disks observed in upper granular layers MISCELLANEOUS \- Obligatory heterozygotes are clinically unaffected ▲ 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
|
PALMOPLANTAR KERATODERMA, NORRBOTTEN RECESSIVE TYPE
|
c1855644
| 27,811 |
omim
|
https://www.omim.org/entry/244850
| 2019-09-22T16:26:05 |
{"mesh": ["C565454"], "omim": ["244850"], "orphanet": ["86923"]}
|
Urachal cyst
SpecialtyMedical genetics
A urachal cyst is a sinus remaining from the allantois during embryogenesis. It is a cyst which occurs in the remnants between the umbilicus and bladder.[1] This is a type of cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus.[1] Urachal cysts are usually silent clinically until infection, calculi or adenocarcinoma develop.[2]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Symptoms[edit]
* Lower abdominal pain
* Pain on urination
* Persistent umbilical discharge
* Fever
* Urinary tract infection
* Lump
* Hematuria
## Diagnosis[edit]
Urachal cysts are rare defects found mostly in young children and hence medical ultrasound of the abdomen, bladder and pelvis is the most used diagnostic tool combined with MRI scan and CT scan in older patients who can remain still during a scan.[3][4]
## See also[edit]
* urachus
* cyst
## References[edit]
1. ^ a b "Urachal cyst - RightDiagnosis.com".
2. ^ "Urachus". Medcyclopaedia. GE. Archived from the original on 2009-03-08.
3. ^ "Urachal cyst". USA National Institutes of Health.
4. ^ Hassan, Shadwa; Koshy, June; Sidlow, Richard; Leader, Hadassa; Horowitz, Mark (2017). "To excise or not to excise infected urachal cysts: A case report and review of the literature". Journal of Pediatric Surgery Case Reports. 22: 35–38. doi:10.1016/j.epsc.2017.05.003.
## External links[edit]
Classification
D
* ICD-10: Q64.4
* ICD-9-CM: 753.7
* MeSH: D014496
* DiseasesDB: 32765
* SNOMED CT: 17234001
External resources
* Orphanet: 488
* v
* t
* e
Congenital malformations and deformations of urinary system
Abdominal
Kidney
* Renal agenesis/Potter sequence, Papillorenal syndrome
* cystic
* Polycystic kidney disease
* Meckel syndrome
* Multicystic dysplastic kidney
* Medullary sponge kidney
* Horseshoe kidney
* Renal ectopia
* Nephronophthisis
* Supernumerary kidney
* Pelvic kidney
* Dent's disease
* Alport syndrome
Ureter
* Ectopic ureter
* Megaureter
* Duplicated ureter
Pelvic
Bladder
* Bladder exstrophy
Urethra
* Epispadias
* Hypospadias
* Posterior urethral valves
* Penoscrotal transposition
Vestigial
Urachus
* Urachal cyst
* Urachal fistula
* Urachal sinus
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
|
Urachal cyst
|
c0041915
| 27,812 |
wikipedia
|
https://en.wikipedia.org/wiki/Urachal_cyst
| 2021-01-18T19:06:51 |
{"gard": ["5425"], "mesh": ["D014496"], "umls": ["C0041915"], "icd-9": ["753.7"], "icd-10": ["Q64.4"], "orphanet": ["488"], "wikidata": ["Q7899540"]}
|
Metatarsophalangeal joint sprain
Anatomy human foot
SpecialtyPodiatry
A metatarsophalangeal joint sprain is an injury to the connective tissue between the foot and one of the toes. When the big toe is involved, it is known as "turf toe".[1][2]
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Causes[edit]
Turf toe is named from the injury being associated with playing sports on rigid surfaces such as artificial turf[3][4] and is a fairly common injury among professional American football players. Often, the injury occurs when someone or something falls on the back of the calf while that leg's knee and tips of the toes are touching the ground. The toe is hyperextended and thus the joint is injured. Additionally, athletic shoes with very flexible soles combined with cleats that "grab" the turf will cause overextension of the big toe. This can occur on the lesser toes as well. It has also been observed in sports beyond American football, including soccer, basketball, rugby, volleyball, and tae kwon do.[5] This is a primary reason why many athletes prefer natural grass to turf, because it is softer.[6]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2017)
## Treatment[edit]
The injury can be debilitating for athletes of many sports who need to accelerate, quickly change direction, or jump. Use of the toes is not possible during the healing process.[citation needed] Since the toes are necessary for proper push-off when accelerating, those sorts of athletic activities should be almost completely curtailed. An extended healing period of one or more months is often required.[citation needed]
Because of the anatomy of the distal foot and the unique use of the foot, it is often impossible to properly tape or brace the joint. Although difficult, it is not impossible to tape the toe to limit extension (upward bend of toe). Additionally, wearing a shoe with a rigid sole (often a metal plate) and cushioned innersole will help minimize extension of the joint. Anti-inflammatory medication, as well as physical therapy, is recommended.[citation needed]
Turf toe is usually healed in about 2–3 weeks.[7] It can become more serious if left untreated, and may cause serious problems for the athlete. Treating the injury includes icing of the area, elevating the foot, or possibly the use of custom orthotics.[8]
## References[edit]
1. ^ Allen LR, Flemming D, Sanders TG (2004). "Turf toe: ligamentous injury of the first metatarsophalangeal joint". Military Medicine. 169 (11): xix–xxiv. PMID 15605946.
2. ^ Kubitz ER (2003). "Athletic injuries of the first metatarsophalangeal joint". Journal of the American Podiatric Medical Association. 93 (4): 325–32. doi:10.7547/87507315-93-4-325. PMID 12869604.[permanent dead link]
3. ^ Childs SG (2006). "The pathogenesis and biomechanics of turf toe". Orthopedic Nursing. 25 (4): 276–80, quiz 281–2. doi:10.1097/00006416-200607000-00012. PMID 16900075.
4. ^ Bowers KD Jr, Martin RB (1976). "Turf-toe: a shoe-surface related football injury". Medicine and Science in Sports. 8 (2): 81–83. PMID 957935.
5. ^ Frimenko RE, et al. (2012). "Etiology and biomechanics of first metatarsophalangeal joint sprains (turf toe) in athletes". Critical Reviews in Biomedical Engineering. 40 (1): 43–61. doi:10.1615/CritRevBiomedEng.v40.i1.30. PMID 22428798.
6. ^ "Turf Toe – Every Athlete's Nightmare". Joint, Aches, and Pain Org. Retrieved 3 March 2013.
7. ^ "Turf Toe: Symptoms, Causes, and Treatments". WebMD.
8. ^ "Metatarsophalangeal Joint Pain". Merck Manuals Professional Edition. Retrieved 5 April 2016.
## External links[edit]
Classification
D
* ICD-10: S93.5
* ICD-9-CM: 845.12
External resources
* eMedicine: orthoped/572
* v
* t
* e
Dislocations/subluxations, sprains and strains
Joints and
ligaments
Head and neck
* Dislocation of jaw
* Whiplash
Shoulder and upper arm
* GH (Dislocated shoulder)
* AC (Separated shoulder)
* ALPSA lesion
* SLAP tear
* Bankart lesion
Elbow and forearm
* Pulled elbow
* Gamekeeper's thumb
Hip and thigh
* Hip dislocation
Knee and leg
* Tear of meniscus
* Anterior cruciate ligament injury
* Unhappy triad
* Patellar dislocation
* Knee dislocation
Ankle and foot
* Sprained ankle (High ankle sprain)
* Turf toe
Muscles and
tendons
Shoulder and upper arm
* Rotator cuff tear
Hip and thigh
* Pulled hamstring
Knee and leg
* Patellar tendon rupture
* Achilles tendon rupture
* Shin splints
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Metatarsophalangeal joint sprain
|
c0160096
| 27,813 |
wikipedia
|
https://en.wikipedia.org/wiki/Metatarsophalangeal_joint_sprain
| 2021-01-18T18:51:04 |
{"icd-9": ["845.12"], "icd-10": ["S93.5"], "wikidata": ["Q6823269"]}
|
Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Brown-Sequard syndrome
|
c0242644
| 27,814 |
gard
|
https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome
| 2021-01-18T18:01:42 |
{"mesh": ["D018437"], "umls": ["C0242644"], "synonyms": ["Hemispinal cord syndrome", "Hemicord syndrome", "Hemiparaplegic syndrome"]}
|
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
|
None
| 27,815 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444463
| 2021-01-23T18:34:01 |
{"icd-10": ["D61.0"], "synonyms": ["Evans syndrome associated with primary immunodeficiency", "TPPII deficiency", "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease", "TRIANGLE disease", "Tripeptidyl-peptidase II deficiency"]}
|
After studying 5 diploid fibroblast strains from patients with deletions in the long arm of chromosome 13, Nove et al. (1979) suggested that a region on 13q14, distinct from but close to the retinoblastoma gene, is related to increased sensitivity to cell killing in vitro by x-rays. It should be noted that ataxia-telangiectasia cells show increased sensitivity to x-ray and that this disorder is often associated with a change in the long arm of chromosome 14, not 13.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[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
|
X-RAY SENSITIVITY
|
c1860232
| 27,816 |
omim
|
https://www.omim.org/entry/194370
| 2019-09-22T16:31:43 |
{"omim": ["194370"]}
|
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Rippling muscle disease
|
c1853698
| 27,817 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97238
| 2021-01-23T17:07:55 |
{"gard": ["9164"], "mesh": ["C535685", "C535686"], "omim": ["600332", "606072"], "umls": ["C1853698"], "icd-10": ["G71.8"]}
|
Abortion in Arkansas is legal. Only 38% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. Arkansas had an abortion ban in place by 1900. Reforms to abortion laws took place sometime in the late 1960s and early 1970s. The state constitution was amended in 1988 to condemn abortion. Abortion bills, including a partial-birth ban, took place in the late 1990s and unconstitutional pre-Roe v. Wade laws remained in place. Some of the abortion restricts have been taken to court, where they have been blocked from enforcement.
The total number of abortion clinics in the state has been declining for years, going from thirteen in 1982 to eight in 1992 to three in 2014. In 2014, 4,024 legal abortions took place in the state. This had declined in 2015 to 3,805. People from Arkansas participated in the #StoptheBans movement in May 2019.
## Contents
* 1 Terminology
* 2 Context
* 3 History
* 3.1 Legislative history
* 3.2 Judicial history
* 3.3 Clinic history
* 4 Statistics
* 5 Abortion rights views and activities
* 5.1 Protests
* 6 Footnotes
* 7 References
## Terminology[edit]
Main article: Abortion
The abortion debate most commonly relates to the "induced abortion" of an embryo or fetus at some point in a pregnancy, which is also how the term is used in a legal sense.[note 1] Some also use the term "elective abortion", which is used in relation to a claim to an unrestricted right of a woman to an abortion, whether or not she chooses to have one. The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons.[1]
Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child",[2][3] and see the medical terms "embryo", "zygote", and "fetus" as dehumanizing.[4][5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing: they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. "Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life".[6] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion".[7]
## Context[edit]
See also: Abortion in the United States
Free birth control correlates to teenage girls having a fewer pregnancies and fewer abortions. A 2014 New England Journal of Medicine study found such a link. At the same time, a 2011 study by Center for Reproductive Rights and Ibis Reproductive Health also found that states with more abortion restrictions have higher rates of maternal death, higher rates of uninsured pregnant women, higher rates of infant and child deaths, higher rates of teen drug and alcohol abuse, and lower rates of cancer screening.[8] The study singled out Oklahoma, Mississippi and Kansas as being the most restrictive states that year, followed by Arkansas and Indiana for second in terms of abortion restrictions, and Florida, Arizona and Alabama in third for most restrictive state abortion requirements.[8]
According to a 2017 report from the Center for Reproductive Rights and Ibis Reproductive Health, states that tried to pass additional constraints on a women's ability to access legal abortions had fewer policies supporting women's health, maternal health and children's health. These states also tended to resist expanding Medicaid, family leave, medical leave, and sex education in public schools.[9] According to Megan Donovan, a senior policy manager at the Guttmacher Institute, states have legislation seeking to protect a woman's right to access abortion services have the lowest rates of infant mortality in the United States.[9]
Poor women in the United States had problems paying for menstrual pads and tampons in 2018 and 2019. Almost two-thirds of American women could not pay for them. These were not available through the federal Women, Infants, and Children Program (WIC).[10] Lack of menstrual supplies has an economic impact on poor women. A study in St. Louis found that 36% had to miss days of work because they lacked adequate menstrual hygiene supplies during their period. This was on top of the fact that many had other menstrual issues including bleeding, cramps and other menstrual induced health issues.[10] This state was one of a majority that taxed essential hygiene products like tampons and menstrual pads as of November 2018.[11][12][13][14]
## History[edit]
One of the biggest groups of women who oppose legalized abortion in the United States are southern white evangelical Christians. These women voted overwhelming for Trump, with 80% of these voters supporting him at the ballot box in 2016. In November 2018, during US House exit polling, 75% of southern white evangelical Christian women indicated they supported Trump and only 20% said they voted for Democratic candidates.[15]
### Legislative history[edit]
Fetal heartbeat bills by state, including time limit without exceptions marked:
Heartbeat bill passed (to go into effect)
Law partially passed by state legislature
Law blocked by court order
By the end of the 1800s, all states in the Union except Louisiana had therapeutic exceptions in their legislative bans on abortions.[16] In the late 1960s and early 1970s, Arkansas, Colorado, Georgia, Maryland, New Mexico, North Carolina and Oregon made reforms to their abortion laws, with most of these states providing more detailed medical guidance on when therapeutic abortions could be performed.[16] An amendment in the state constitution in 1988 said, "The policy of Arkansas is to protect the life of every unborn child from conception until birth, to the extent permitted by the Federal Constitution."[17]
Two abortion bills were before the state legislature in 1997. AB SB 612 (1997) was introduced by Republican Senator Boozman on March 5, 1997. While in committee, it was amended. The bill which went on to be enacted was a partial-birth abortion ban, passing by a vote of 78 to 3. Republican Governor Huckabee signed it into law on April 1, 1997. It became effective August 1, 1997.[17] In 1997, AR HB 1351 reached a floor vote. It was another partial-birth abortion related bill introduced on January 27, 1997 by Republican Representative Hendren. It defined the procedure as "partially vaginally delivering a fetus resulting in the termination of the pregnancy of a partial birth-abortion as defined by the United States Supreme Court in any opinion issued after the effective date of this act".[17] Despite having an unconstitutional pre-Roe v. Wade abortion law, this law had not been repealed by 1998 and stated that anyone who performed an abortion could be punished with up to a year in prison and a fine up to US$1000.[17]
The state was one of twenty-three states in 2007 to have a detailed abortion-specific informed consent requirement.[18] Georgia, Michigan, Arkansas and Idaho all required in 2007 that women must be provided by an abortion clinic with the option to view an image of their fetus if an ultrasound is used prior to the abortion taking place.[19] Arkansas, Minnesota and Oklahoma all require that women seeking abortions after 20-weeks be verbally informed that the fetus may feel pain during the abortion procedure despite a Journal of the American Medical Association conclusion that pain sensors do not develop in the fetus until between weeks 23 and 30.[19] Informed consent materials about fetal pain at 20-weeks in Arkansas, Georgia and Oklahoma says, "the unborn child has the physical structures necessary to experience pain." The Journal of the American Medical Association has concluded that pain sensors do not develop in the fetus until between weeks 23 and 30.[19] In 2013, state Targeted Regulation of Abortion Providers (TRAP) law applied to medication induced abortions and private doctor offices.[20]
A fetal heartbeat bill, banning abortion after twelve weeks, was passed on January 31, 2013 by the Arkansas Senate,[21][22] vetoed in Arkansas by Governor Mike Beebe, but, on March 6, 2013, his veto was overridden by the Arkansas House of Representatives.[22][23] A federal judge issued a temporary injunction against the Arkansas law in May 2013,[24] and in March 2014, it was struck down by federal judge Susan Webber Wright, who described the law as unconstitutional.[25]
In 2019, only 24% of the state legislators were female.[26]
### Judicial history[edit]
The US Supreme Court's decision in 1973's Roe v. Wade ruling meant the state could no longer regulate abortion in the first trimester.[16]
In May 2013, a federal judged blocked the implementation of the legislation passed in March 2013.[22] On May 27, 2015, the Eighth Circuit Court of Appeals affirmed a lower court ruling and permanently blocked the law from being enforced.[27] In January 2016, The U.S. Supreme Court declined to review the case, leaving the Eighth Circuit's ruling in place.[28]
### Clinic history[edit]
Number of abortion clinics in Arkansas by year
Between 1982 and 1992, the number of abortion clinics in the state decreased by five, going from thirteen in 1982 to eight in 1992.[17] In 2014, there were three abortion clinics in the state.[29] In 2014, 97% of the counties in the state did not have an abortion clinic. That year, 77% of women in the state aged 15 – 44 lived in a county without an abortion clinic.[30] As of 2019, there was 1 Planned Parenthood clinic in a state which 1 offered abortion services.[31]
## Statistics[edit]
In the period between 1972 and 1974, there were zero recorded illegal abortion deaths in the state.[32] In 1990, 241,000 women in the state faced the risk of an unintended pregnancy.[17] In 2010, the state had zero publicly funded abortions.[33] In 2013, among white women aged 15–19, there were abortions 270, 240 abortions for black women aged 15–19, 40 abortions for Hispanic women aged 15–19, and 10 abortions for women of all other races.[34] In 2014, 38% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.[35] In 2017, the state had an infant mortality rate of 8.2 deaths per 1,000 live births.[9]
Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996[36] Census division and state Number Rate % change 1992–1996
1992 1995 1996 1992 1995 1996
US Total 1,528,930 1,363,690 1,365,730 25.9 22.9 22.9 –12
West South Central 127,070 119,200 120,610 19.6 18 18.1 –8
Arkansas 7,130 6,010 6,200 13.5 11.1 11.4 –15
Louisiana 13,600 14,820 14,740 13.4 14.7 14.7 10
Oklahoma 8,940 9,130 8,400 12.5 12.9 11.8 –5
Texas 97,400 89,240 91,270 23.1 20.5 20.7 –10
Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents, US CDC estimates Location Residence Occurrence % obtained by
out-of-state residents Year Ref
No. Rate^ Ratio^^ No. Rate^ Ratio^^
Arkansas 7,130 13.5 1992 [36]
Arkansas 6,010 11.1 1995 [36]
Arkansas 6,200 11.4 1996 [36]
Arkansas 4,024 7.0 104 4,253 7.4 110 22.2 2014 [37]
Arkansas 3,805 6.6 98 3,771 6.5 97 18.6 2015 [38]
Arkansas 3,432 6.0 90 3,207 5.6 84 16.5 2016 [39]
^number of abortions per 1,000 women aged 15–44; ^^number of abortions per 1,000 live births
## Abortion rights views and activities[edit]
### Protests[edit]
Women from the state participated in marches supporting abortion rights as part of a #StoptheBans movement in May 2019.[40]
## Footnotes[edit]
1. ^ According to the Supreme Court's decision in Roe v. Wade:
> (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Likewise, Black's Law Dictionary defines abortion as "knowing destruction" or "intentional expulsion or removal".
## References[edit]
1. ^ Watson, Katie (20 Dec 2019). "Why We Should Stop Using the Term "Elective Abortion"". AMA Journal of Ethics. 20: E1175-1180. doi:10.1001/amajethics.2018.1175. PMID 30585581. Retrieved 17 May 2019.
2. ^ Chamberlain, Pam; Hardisty, Jean (2007). "The Importance of the Political 'Framing' of Abortion". The Public Eye Magazine. 14 (1).
3. ^ "The Roberts Court Takes on Abortion". New York Times. November 5, 2006. Retrieved January 18, 2008.
4. ^ Brennan 'Dehumanizing the vulnerable' 2000
5. ^ Getek, Kathryn; Cunningham, Mark (February 1996). "A Sheep in Wolf's Clothing – Language and the Abortion Debate". Princeton Progressive Review.
6. ^ "Example of "anti-life" terminology" (PDF). Archived from the original (PDF) on 2011-07-27. Retrieved 2011-11-16.
7. ^ Goldstein, Norm, ed. The Associated Press Stylebook. Philadelphia: Basic Books, 2007.
8. ^ a b Castillo, Stephanie (2014-10-03). "States With More Abortion Restrictions Hurt Women's Health, Increase Risk For Maternal Death". Medical Daily. Retrieved 2019-05-27.
9. ^ a b c "States pushing abortion bans have highest infant mortality rates". NBC News. Retrieved 2019-05-25.
10. ^ a b Mundell, E.J. (January 16, 2019). "Two-Thirds of Poor U.S. Women Can't Afford Menstrual Pads, Tampons: Study". US News & World Report. Retrieved May 26, 2019.
11. ^ Larimer, Sarah (January 8, 2016). "The 'tampon tax,' explained". The Washington Post. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
12. ^ Bowerman, Mary (July 25, 2016). "The 'tampon tax' and what it means for you". USA Today. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
13. ^ Hillin, Taryn. "These are the U.S. states that tax women for having periods". Splinter. Retrieved 2017-12-15.
14. ^ "Election Results 2018: Nevada Ballot Questions 1-6". KNTV. Retrieved 2018-11-07.
15. ^ Brownstein, Ronald (2019-05-23). "White Women Are Helping States Pass Abortion Restrictions". The Atlantic. Retrieved 2019-05-26.
16. ^ a b c Buell, Samuel (1991-01-01). "Criminal Abortion Revisited". New York University Law Review. 66: 1774–1831.
17. ^ a b c d e f Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998). A State-By-State Review of Abortion and Reproductive Rights. DIANE Publishing. ISBN 9780788174810.
18. ^ "State Policy On Informed Consent for Abortion" (PDF). Guttmacher Policy Review. Fall 2007. Retrieved May 22, 2019.
19. ^ a b c "State Abortion Counseling Policies and the Fundamental Principles of Informed Consent". Guttmacher Institute. 2007-11-12. Retrieved 2019-05-22.
20. ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price". Guttmacher Institute. 2013-06-27. Retrieved 2019-05-27.
21. ^ Parker, Suzi (January 31, 2013). "Arkansas Senate passes fetal heartbeat law to ban most abortions". Reuters. Retrieved September 5, 2013.
22. ^ a b c Times, The New York. "Abortion Restrictions in States". archive.nytimes.com. Retrieved 2019-05-25.
23. ^ Bassett, Laura (March 6, 2013). "Arkansas 12-Week Abortion Ban Becomes Law". Huffington Post. Retrieved July 31, 2013.
24. ^ "Ark. 'heartbeat' abortion law blocked - Washington Times". The Washington Times.
25. ^ AP (March 15, 2014). "U.S. judge strikes Arkansas' 12-week abortion ban". USA Today. Retrieved September 20, 2014.
26. ^ "Yes, you can blame the patriarchy for these horrible abortion laws. We did the math". Mother Jones. Retrieved 2019-05-26.
27. ^ "Arkansas Human Heartbeat Protection Act (SB 134)". rewire.news. Retrieved February 10, 2019.
28. ^ "Heartbeat Bans". rewire.news. Retrieved February 10, 2019. "In January 2016, the U.S. Supreme Court declined to review the case, leaving the Eighth Circuit’s ruling in place."
29. ^ Gould, Rebecca Harrington, Skye. "The number of abortion clinics in the US has plunged in the last decade — here's how many are in each state". Business Insider. Retrieved 2019-05-23.
30. ^ businessinsider (2018-08-04). "This is what could happen if Roe v. Wade fell". Business Insider (in Spanish). Retrieved 2019-05-24.
31. ^ https://www.plannedparenthood.org/health-center/AR
32. ^ Cates, Willard; Rochat, Roger (March 1976). "Illegal Abortions in the United States: 1972–1974". Family Planning Perspectives. 8 (2): 86. doi:10.2307/2133995. JSTOR 2133995. PMID 1269687.
33. ^ "Guttmacher Data Center". data.guttmacher.org. Retrieved 2019-05-24.
34. ^ "No. of abortions among women aged 15–19, by state of residence, 2013 by racial group". Guttmacher Data Center. Retrieved 2019-05-24.
35. ^ "Views about abortion by state - Religion in America: U.S. Religious Data, Demographics and Statistics". Pew Research Center. Retrieved 2019-05-23.
36. ^ a b c d "Abortion Incidence and Services in the United States, 1995-1996". Guttmacher Institute. 2005-06-15. Retrieved 2019-06-02.
37. ^ Jatlaoui, Tara C. (2017). "Abortion Surveillance — United States, 2014". MMWR. Surveillance Summaries. 66 (24): 1–48. doi:10.15585/mmwr.ss6624a1. ISSN 1546-0738. PMID 29166366.
38. ^ Jatlaoui, Tara C. (2018). "Abortion Surveillance — United States, 2015". MMWR. Surveillance Summaries. 67 (13): 1–45. doi:10.15585/mmwr.ss6713a1. ISSN 1546-0738. PMC 6289084. PMID 30462632.
39. ^ Jatlaoui, Tara C. (2019). "Abortion Surveillance — United States, 2016". MMWR. Surveillance Summaries. 68. doi:10.15585/mmwr.ss6811a1. ISSN 1546-0738.
40. ^ Bacon, John. "Abortion rights supporters' voices thunder at #StopTheBans rallies across the nation". USA TODAY. Retrieved 2019-05-25.
Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* North Carolina
* North Dakota
* Ohio
* Oklahoma
* Oregon
* Pennsylvania
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* Utah
* Vermont
* Virginia
* Washington
* West Virginia
* Wisconsin
* Wyoming
Federal district
Washington, D.C.
Insular areas
* American Samoa
* Guam
* Northern Mariana Islands
* Puerto Rico
* U.S. Virgin Islands
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Abortion in Arkansas
|
None
| 27,818 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Arkansas
| 2021-01-18T18:35:33 |
{"wikidata": ["Q64876904"]}
|
A number sign (#) is used with this entry because the Bombay and para-Bombay phenotypes are caused by homozygous or compound heterozygous mutation in the FUT1 gene (211100) on chromosome 19p13.
Digenic inheritance has been reported with mutation in the FUT1 and FUT2 (182100) genes.
Description
Two main types of recessive H-deficient red cell phenotypes are recognized: (1) the nonsecretor classic Bombay type (h null and se (FUT2; 182100) null) with H deficiency of both red cells and saliva, and (2) the secretor Bombay type (h null, Se heterozygous) with H deficiency in red cells but normal ABH in secretions. The latter has been designated para-Bombay phenotype. Under this 2-locus model, the H blood group locus determines expression of the H antigen (as well as the A and/or B antigens) in the erythroid lineage, whereas the SE locus controls H expression (and thus A or B antigen expression) in a variety of secretory epithelia and in saliva. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals (summary by Kelly et al., 1994).
Clinical Features
The first examples of blood completely lacking H were found in Bombay by Bhende et al. (1952). These individuals with the so-called Bombay phenotype are recognized by the presence of anti-H in the serum, in addition to anti-A and anti-B, as in type O persons. By family studies Levine et al. (1955) and Aloysia et al. (1961) showed that the Bombay phenotype, called by them Oh, is due to the presence in homozygous state of a rare recessive gene. Yunis et al. (1969) found 7 affected persons in 3 generations, including a homozygous by heterozygous mating. Yunis et al. (1969) proposed that there are 2 kinds of Bombay genotypes.
Gerard et al. (1982) expected a high incidence of H-deficient phenotypes among the half-million people living on Reunion Island (in the Indian Ocean east of Madagascar), since most of the cases of the Bombay phenotype published by French teams of Salmon and others traced their ancestry to this small island. An analysis of the results of ABO typing at transfusion centers on the island confirmed their prediction; 42 persons were found to be lacking H-antigen on red cells with anti-H in their serum. A, B, and AB Bombay subjects had small but detectable amounts of A and/or B antigens on erythrocytes. All H-deficient persons were nonsecretors, and one-third were Lewis (FUT3; 616754) negative. Of 108 unaffected persons in 14 Bombay pedigrees, 53 (49%) were se/se, suggesting that the Bombay probands have an se/se genotype. All the children from Bombay nonsecretor x unaffected nonsecretor were se/se, supporting the previous conclusion that Se and H are closely linked structural genes. The 2 largest series of H-deficient phenotypes in the Indian Ocean area (Bombay and Natal) were Indians. On Reunion, 85% were whites.
Le Pendu et al. (1983) identified 2 variants of the nonsecretor Bombay phenotype on Reunion Island: (1) H-negative persons with the classic Bombay phenotype, all Indians, who completely lacked H antigen on their red cells and whose anti-H antibodies reacted strongly with normal O and O(h) red cells from whites, and (2) H-weak persons, all white, who showed weak expression of the H antigen and whose anti-H antibodies reacted with normal O red cells but not with O(h) red cells regardless of ethnic origin. The authors called the particular variant of weak H phenotype, belonging to the so-called para-Bombay series, Reunion. On Reunion, almost all the cases could be traced to the Cilaos area. Indian Bombay secretor families have been observed, as well as H-deficient secretor phenotypes in Europeans and Japanese, but no Reunion secretor phenotype has been found on Reunion Island. Le Pendu et al. (1983) found a dosage effect for quantitative measurement of H-enzyme activity (alpha-2-L-fucosyltransferase) in serum. Heterozygotes had about half as much enzyme activity as homozygotes.
Kelly et al. (1994) found that para-Bombay individuals maintained a functional SE-determined fucosyltransferase, but not an H-encoded fucosyltransferase, confirming that the SE locus must correspond to a fucosyltransferase gene distinct from the one defective in the Bombay phenotype.
Molecular Genetics
In an individual with the classic Bombay phenotype, Kelly et al. (1994) identified homozygosity for a nonsense mutation in the FUT1 gene (Y316X). In an individual with a para-Bombay phenotype, they identified compound heterozygous mutations in the FUT1 gene (L164H, 211100.0002 and Q276X, 211100.0003). The mutation segregated with the phenotype in both families.
In 3 unrelated individuals with the classic Bombay phenotype, Koda et al. (1997) identified a heterozygous mutation in the FUT1 gene (L242R; 211100.0004) on one allele and complete deletion of the FUT2 gene (182100.0003) on the other.
Fernandez-Mateos et al. (1998) identified a homozygous missense mutation (H117Y; 211100.0005) in the FUT1 gene as the cause of the para-Bombay phenotype (Reunion variant) on Reunion Island.
INHERITANCE \- Autosomal recessive HEMATOLOGY \- H antigen absent on red cells \- Anti-H in serum MOLECULAR BASIS \- Caused by mutation in the fucosyltransferase-1 gene (FUT1, 211100.0001 ) ▲ 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
|
BOMBAY PHENOTYPE
|
c4225430
| 27,819 |
omim
|
https://www.omim.org/entry/616754
| 2019-09-22T15:48:03 |
{"omim": ["616754"]}
|
A number sign (#) is used with this entry because of evidence that primary microcephaly-6 (MCPH6) is caused by homozygous mutation in the gene encoding centromeric protein J (CENPJ; 609279) on chromosome 13q12.
For a phenotypic description and discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Clinical Features
Darvish et al. (2010) reported 2 affected individuals from a consanguineous Iranian family with autosomal recessive primary microcephaly. In addition to severe mental retardation and microcephaly (-4 to -6 SD), the patients had additional features, including small ears, hypertelorism, strabismus, notched nasal tip, seizures, joint stiffness, and wheelchair requirement.
Sajid Hussain et al. (2013) reported 10 patients from 3 consanguineous Pakistani families with primary microcephaly (-8 to -17 SD) between ages 7 and 30 years. Most of the patients were unable to speak or write.
Inheritance
The transmission pattern of MCPH6 in the families reported by Darvish et al. (2010) and Sajid Hussain et al. (2013) was consistent with autosomal recessive inheritance.
Mapping
Leal et al. (2003) reported a novel locus, MCPH6, for autosomal recessive primary microcephaly, mapping to 13q12.2, in a Brazilian family. The minimal critical regions spanned 6 Mb between 2 markers with a maximum 2-point lod score of 6.25.
By homozygosity mapping, Darvish et al. (2010) found linkage to the MCPH6 locus in 5 of 112 consanguineous Iranian families with primary microcephaly.
Molecular Genetics
In affected members of 3 families with MCPH6, of which 1 was the Brazilian family previously described by Leal et al. (2003) and 2 were Pakistani, Bond et al. (2005) identified a homozygous mutation in the CENPJ gene (609279.0001-609279.0002, respectively). Each mutation was absent from 380 northern Pakistani control chromosomes, showed the expected disease segregation in families, and was not present in chimpanzee, gorilla, orangutan, gibbon, mouse, or rat.
In affected members of a Pakistani family with MCPH6, Gul et al. (2006) identified homozygosity for a 4-bp deletion in the CENPJ gene (609279.0003).
In 2 affected members of a consanguineous Iranian family with primary microcephaly, Darvish et al. (2010) identified a homozygous mutation in the CENPJ gene (T821M; 609279.0005).
In 10 patients from 3 consanguineous Pakistani families with MCPH6, Sajid Hussain et al. (2013) identified a homozygous truncating mutation in the CENPJ gene (609279.0001). The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the families. The families were ascertained from a larger cohort of 57 consanguineous Pakistani families with autosomal recessive microcephaly who underwent linkage analysis to known MCPH loci.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (head circumference -7 to -17 S.D.) NEUROLOGIC Central Nervous System \- Mental retardation, moderate \- Small cerebral cortex MISCELLANEOUS \- Onset at birth MOLECULAR BASIS \- Caused by mutation in the centromeric protein J gene (CENPJ, 609279.0001 ) ▲ 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
|
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
|
c3711387
| 27,820 |
omim
|
https://www.omim.org/entry/608393
| 2019-09-22T16:07:52 |
{"doid": ["0070290"], "mesh": ["C579935"], "omim": ["608393"], "orphanet": ["2512"]}
|
Parasitic twin
Illustration of a man with a parasitic twin, alongside illustrations of two configurations of conjoined twins
SpecialtyMaternal–fetal medicine, neonatology
A parasitic twin, also known as an asymmetrical or unequal conjoined twin, is the result of the processes that also produce vanishing twins and conjoined twins, and may represent a continuum between the two.[citation needed] Parasitic twins occur when a twin embryo begins developing in utero, but the pair does not fully separate, and one embryo maintains dominant development at the expense of its twin. Unlike conjoined twins, one ceases development during gestation and is vestigial to a mostly fully formed, otherwise healthy individual twin. The undeveloped twin is defined as parasitic, rather than conjoined, because it is incompletely formed or wholly dependent on the body functions of the complete fetus. The independent twin is called the autosite.
## Contents
* 1 Genetic variants
* 2 See also
* 3 References
* 4 Further reading
## Genetic variants[edit]
This section is in list format, but may read better as prose. You can help by converting this section, if appropriate. Editing help is available. (December 2016)
* Conjoined parasitic twins joined at the head are described as craniopagus or cephalopagus, and occipitalis if joined in the occipital region or parietalis if joined in the parietal region.
* Craniopagus parasiticus is a general term for a parasitic head attached to the head of a more fully developed fetus or infant.[1]
* Fetus in fetu sometimes is interpreted as a special case of parasitic twin, but may be a distinct entity.
* The twin reversed arterial perfusion, or TRAP sequence, results in an acardiac twin, a parasitic twin that fails to develop a head, arms and a heart. The parasitic twin, little more than a torso with or without legs, receives its blood supply from the host twin by means of an umbilical cord-like structure, much like a fetus in fetu, except the acardiac twin is outside the autosite's body. The blood received by the parasitic twin has already been used by the normal fetus, and as such is already de-oxygenated, leaving little developmental nutrients for the acardiac twin. Because it is pumping blood for both itself and its acardiac twin, this causes extreme stress on the normal fetus's heart. Many TRAP pregnancies result in heart failure for the healthy twin. This twinning condition usually occurs very early in pregnancy.[2] A rare variant of the acardiac fetus is the acardius acormus where the head is well developed but the heart and the rest of the body are rudimentary. While it is thought that the classical TRAP/Acardius sequence is due to a retrograde flow from the umbilical arteries of the pump twin to the iliac arteries of the acardiac twin resulting in preferential caudal perfusion, acardius acormus is thought to be a result of an early embryopathy.[3]
## See also[edit]
* Dipygus
* Lakshmi Tatma
* Rudy Santos
* Frank Lentini
* Vestigial twin
* Lazarus and Joannes Baptista Colloredo
## References[edit]
1. ^ Aquino DB, Timmons C, Burns D, Lowichik A (1997). "Craniopagus parasiticus: a case illustrating its relationship to craniopagus conjoined twinning". Pediatric Pathology and Laboratory Medicine. 17 (6): 939–44. doi:10.1080/107710497174381. PMID 9353833.
2. ^ "Acardiac Twin or TRAP Sequence". University of California, San Francisco. 2007-04-26. Archived from the original on 2012-07-08. Retrieved 2007-05-30.
3. ^ Abi Nader Khalil, Whitten Sara Melissa, Filippi Elisa, Scott Rose-Mary, Jauniaux Eric. Dichorionic triamniotic triplet pregnancy complicated by acardius acormus. Fetal Diagnosis and Therapy 2009;26(1):45-9.
## Further reading[edit]
* Lebel, Robert Roger; Carlos Mock; Jeannette Israel; William Senica (June 1994). "Twin reversed arterial perfusion syndrome, acephalic presenting at full term". TheFetus.net. Retrieved 18 February 2013.
* v
* t
* e
Twin conditions
Zygosity
* Twin
Monochorionic twins
* Twin-to-twin transfusion syndrome
* Twin reversed arterial perfusion
* Monoamniotic twins
Conjoined twins
* Parasitic twin
* Craniopagus parasiticus
* Fetus in fetu
Other
* Vanishing twin
* Chimerism
* Mixed twins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Parasitic twin
|
c0266705
| 27,821 |
wikipedia
|
https://en.wikipedia.org/wiki/Parasitic_twin
| 2021-01-18T19:03:07 |
{"wikidata": ["Q3155162"]}
|
Cancer of the skin, lymph nodes, or other organs
Kaposi's sarcoma, multiple haemorrhagic sarcoma
Other namesKaposi sarcoma
Kaposi sarcoma. Characteristic purple lesions on the nose in an HIV-positive female.[1]
Pronunciation
* /kæˈpoʊsiz/,[2] /ˈkɑːpəsiz, ˈkæpə-/[3]
SpecialtyOncology
SymptomsPurple colored skin lesions[4]
TypesClassic, endemic, immunosuppression therapy-related, epidemic[4][5]
Risk factorsHuman herpesvirus 8 (HHV8), poor immune function[4][6]
Diagnostic methodTissue biopsy, medical imaging[6][4]
Differential diagnosisBlue rubber bleb nevus syndrome, pyogenic granuloma, melanocytic nevi, melanoma[6]
TreatmentSurgery, chemotherapy, radiation therapy, biologic therapy[4]
Frequency42,000 (new cases, 2018)[7]
Deaths20,000 (2018)[7]
Kaposi's sarcoma (KS) is a type of cancer that can form masses in the skin, lymph nodes, or other organs.[4] The skin lesions are usually purple in color.[4] They can occur singly or in a limited area, or may be widespread.[8] It may worsen either gradually or quickly.[6] Lesions may be flat or raised.[6] Human herpesvirus 8 (HHV8) is found in the lesions of all those who are affected.[4] Risk factors include poor immune function, either as a result of disease or specific medications, and chronic lymphedema.[4][6]
Four sub-types are described: classic, endemic, immunosuppression therapy-related, and epidemic.[4] Classic KS tends to affect older men, be slow growing, and affect the legs.[4] Endemic KS occurs in young adult males in Africa and can be more aggressive.[4] Immunosuppression therapy-related KS generally occurs in people following organ transplantation and mostly affects the skin.[4] Epidemic KS occurs in people with AIDS and many parts of the body can be affected.[4] The diagnosis is by tissue biopsy while the extent of disease may be determined by medical imaging.[4][6]
Treatment is based on the sub-type, whether the condition is localized or widespread, and the person's immune function.[6] Localized skin lesions may be treated by surgery, injections of chemotherapy into the lesion, or radiation therapy.[6] Widespread disease may be treated with chemotherapy or biologic therapy.[6][4] In those with HIV/AIDS highly active antiretroviral therapy (HAART) prevents and often treats KS.[9] In certain cases the addition of chemotherapy may be required.[9] With widespread disease, death may occur.[6]
The condition is relatively common in people with HIV/AIDS and following organ transplant as of 2017.[6][9] Over 35% of people with AIDS may be affected.[10] It was first described by Moritz Kaposi in 1872.[8][11] It became more widely known as one of the AIDS-defining illnesses in the 1980s.[8] The virus associated with this cancer was discovered in 1994.[8][12]
## Contents
* 1 Signs and symptoms
* 1.1 Skin
* 1.2 Mouth
* 1.3 Gastrointestinal tract
* 1.4 Respiratory tract
* 2 Cause
* 2.1 Transmission
* 3 Pathology
* 4 Diagnosis
* 4.1 Differential diagnosis of Kaposi's sarcoma
* 4.2 Classification
* 5 Prevention
* 6 Treatment
* 7 Epidemiology
* 8 Society
* 9 References
* 10 External links
## Signs and symptoms[edit]
KS lesions are nodules or blotches that may be red, purple, brown, or black, and are usually papular.[citation needed]
They are typically found on the skin, but spread elsewhere is common, especially the mouth, gastrointestinal tract and respiratory tract. Growth can range from very slow to explosively fast, and is associated with significant mortality and morbidity.[13]
The lesions are painless, but become cosmetically disfiguring or interruptive to organs.[14]
### Skin[edit]
An example of Kaposi's sarcoma
Patch stage Kaposi's sarcoma. Red to brownish irregularly shaped macules and plaques.[15]
Commonly affected areas include the lower limbs, back, face, mouth, and genitalia. The lesions are usually as described above, but may occasionally be plaque-like (often on the soles of the feet) or even involved in skin breakdown with resulting fungating lesions. Associated swelling may be from either local inflammation or lymphoedema (obstruction of local lymphatic vessels by the lesion). Skin lesions may be quite disfiguring for the sufferer, and a cause of much psychosocial pathology.[citation needed]
### Mouth[edit]
An HIV-positive person presenting with a Kaposi's sarcoma lesion with an overlying candidiasis infection in their mouth
The mouth is involved in about 30% of cases, and is the initial site in 15% of AIDS-related KS. In the mouth, the hard palate is most frequently affected, followed by the gums.[16] Lesions in the mouth may be easily damaged by chewing and bleed or suffer secondary infection, and even interfere with eating or speaking.[citation needed]
### Gastrointestinal tract[edit]
Involvement can be common in those with transplant-related or AIDS-related KS, and it may occur in the absence of skin involvement. The gastrointestinal lesions may be silent or cause weight loss, pain, nausea/vomiting, diarrhea, bleeding (either vomiting blood or passing it with bowel movements), malabsorption, or intestinal obstruction.[17]
### Respiratory tract[edit]
Involvement of the airway can present with shortness of breath, fever, cough, coughing up blood or chest pain, or as an incidental finding on chest x-ray.[18] The diagnosis is usually confirmed by bronchoscopy, when the lesions are directly seen and often biopsied. Kaposi's sarcoma of the lung has a poor prognosis.[citation needed]
## Cause[edit]
Kaposi's sarcoma-associated herpesvirus (KSHV), also called HHV-8, is present in almost 100% of Kaposi sarcoma lesions, whether HIV-related, classic, endemic, or iatrogenic.[19] KSHV encodes oncogenes, microRNAs and circular RNAs that promote cancer cell proliferation and escape from the immune system.
### Transmission[edit]
In Europe and North America, KSHV is transmitted through saliva. Thus, kissing is a theoretical risk factor for transmission. Higher rates of transmission among gay and bisexual men have been attributed to "deep kissing" sexual partners with KSHV.[20] Another alternative theory suggests that use of saliva as a sexual lubricant might be a major mode for transmission. Prudent advice is to use commercial lubricants when needed and avoid deep kissing with partners with KSHV infection or whose status is unknown.
KSHV is also transmissible via organ transplantation[21] and blood transfusion.[22] Testing for the virus before these procedures is likely to effectively limit iatrogenic transmission.
## Pathology[edit]
Micrograph of a Kaposi sarcoma showing the characteristic spindle cells, high vascularity and intracellular hyaline globs. H&E stain.
Despite its name, in general it is not considered a true sarcoma,[23][24] which is a tumor arising from mesenchymal tissue. The histogenesis of KS remains controversial.[25] KS may arise as a cancer of lymphatic endothelium[26] and forms vascular channels that fill with blood cells, giving the tumor its characteristic bruise-like appearance. KSHV proteins are uniformly detected in KS cancer cells.
KS lesions contain tumor cells with a characteristic abnormal elongated shape, called spindle cells. The most typical feature of Kaposi sarcoma is the presence of spindle cells forming slits containing red blood cells. Mitotic activity is only moderate and pleomorphism is usually absent.[27] The tumor is highly vascular, containing abnormally dense and irregular blood vessels, which leak red blood cells into the surrounding tissue and give the tumor its dark color. Inflammation around the tumor may produce swelling and pain. Variously sized PAS positive hyaline bodies are often seen in the cytoplasm or sometimes extracellularly.[citation needed]
The spindle cells of Kaposi sarcoma differentiate toward endothelial cells, probably of lymph vessel rather than blood vessel origin.[28] The consistent immunoreactivity for podoplanin supports the lymphatic nature of the lesion.
* Micrograph of promontory sign in Kaposi's sarcoma in patch stage. Dilated irregular vascular channels surround a pre-existing vessel.[15]
* Micrograph of plaque stage, with bizarre vessels dissecting the upper dermis. There is erythrocyte extravasation and hemosiderin pigmentation.[15]
* Micrograph of tumor stage. Well-circumscribed spindle-cell tumor. Erythrocytes lie within poorly defined slit-like vascular spaces.[15]
## Diagnosis[edit]
Although KS may be suspected from the appearance of lesions and the patient's risk factors, definite diagnosis can be made only by biopsy and microscopic examination. Detection of the KSHV protein LANA in tumor cells confirms the diagnosis.
In differential diagnosis, arteriovenous malformations, pyogenic granuloma and other vascular proliferations can be microscopically confused with KS.[29]
### Differential diagnosis of Kaposi's sarcoma[edit]
Source:[30]
1. Naevus
2. Histiocytoma
3. Cryptococcosis
4. Histoplasmosis
5. Leishmaniasis
6. Pneumocystis lesions
7. Dermatophytosis
8. Angioma
9. Bacillary angiomatosis
10. Pyogenic granuloma
11. Melanoma
### Classification[edit]
HHV-8 is responsible for all varieties of KS. Since Moritz Kaposi first described this cancer, the disease has been reported in five separate clinical settings, with different presentations, epidemiology, and prognoses.[31]:599 All of these forms are infected with KSHV and are different manifestations of the same disease but have differences in clinical aggressiveness, prognosis and treatment.
* Classic Kaposi sarcoma most commonly appears early on the toes and soles as reddish, violaceous, or bluish-black macules and patches that spread and coalesce to form nodules or plaques.[31]:599 A small percentage of these patients may have visceral lesions. In most cases the treatment involves surgical removal of the lesion. The condition tends to be indolent and chronic, affecting elderly men from the Mediterranean region, Arabian countries[32] or of Eastern European descent. Countries bordering the Mediterranean basin have higher rates of KSHV/HHV-8 infection than the remainder of Europe.[33][34]
* Endemic KS, which has two types. Although this may be present worldwide, it has been originally described later in young African people, mainly from sub-Saharan Africa. This variant is not related to HIV infection[35][36] and is a more aggressive disease that infiltrates the skin extensively.[35][37]
* African lymphadenopathic Kaposi sarcoma is aggressive, occurring in children under 10 years of age, presenting with lymph node involvement, with or without skin lesions.[31]:599
* African cutaneous Kaposi sarcoma presents with nodular, infiltrative, vascular masses on the extremities, mostly in men between the ages of 20 and 50, and is endemic in tropical Africa.[31]:599
* Immunosuppression-associated Kaposi sarcoma had been described, but only rarely until the advent of calcineurin inhibitors (such as ciclosporines, which are inhibitors of T-cell function) for transplant patients in the 1980s, when its incidence grew rapidly. The tumor arises either when an HHV 8-infected organ is transplanted into someone who has not been exposed to the virus or when the transplant recipient already harbors pre-existing HHV 8 infection.[38][39] Unlike classic Kaposi sarcoma, the site of presentation is more variable.[31]:600
* AIDS-associated Kaposi sarcoma typically presents with cutaneous lesions that begin as one or several red to purple-red macules, rapidly progressing to papules, nodules, and plaques, with a predilection for the head, back, neck, trunk, and mucous membranes. In more advanced cases, lesions can be found in the stomach and intestines, the lymph nodes, and the lungs.[31]:599 Compared to other forms of KS, KS-AIDS stimulated more interest in KS research, as it was one of the first illnesses associated with AIDS and first described in 1981.[40][41][42] This form of KS is over 300 times more common in AIDS patients than in renal transplant recipients. In this case, HHV 8 is sexually transmitted among people also at risk for sexually transmitted HIV infection.[43]
## Prevention[edit]
Blood tests to detect antibodies against KSHV have been developed and can be used to determine whether a person is at risk for transmitting infection to their sexual partner, or whether an organ is infected prior to transplantation. However, these tests are not available except as research tools, and, thus, there is little screening for persons at risk for becoming infected with KSHV, such as people following a transplant.
## Treatment[edit]
Kaposi sarcoma is not curable, but it can often be treatable for many years. In KS associated with immunodeficiency or immunosuppression, treating the cause of the immune system dysfunction can slow or stop the progression of KS. In 40% or more of peoples with AIDS-associated Kaposi sarcoma, the Kaposi lesions will shrink upon first starting highly active antiretroviral therapy (HAART). Therefore, HAART is considered the cornerstone of therapy in AIDS-associated Kaposi sarcoma. However, in a certain percentage[vague] of such people, Kaposi sarcoma may recur after a number of years on HAART, especially if HIV is not completely suppressed.
People with a few local lesions can often be treated with local measures such as radiation therapy or cryosurgery.[44][45] Weak evidence suggests that antiretroviral therapy in combination with chemotherapy is more effective than either of those two therapies individually.[46] Limited basic and clinical evidence suggest that topical beta-blockers, such as timolol, may induce regression of localized lesions in classic as well as HIV-associated Kaposi sarcoma.[47][48] In general, surgery is not recommended, as Kaposi sarcoma can appear in wound edges. In general, more widespread disease, or disease affecting internal organs, is treated with systemic therapy with interferon alpha, liposomal anthracyclines (such as liposomal doxorubicin or daunorubicin), thalidomide, or paclitaxel.[49][50]
Alitretinoin, applied to the lesion, may be used when the lesion are not getting better with standard treatment of HIV/AIDS and chemotherapy or radiation therapy cannot be used.[51]
## Epidemiology[edit]
With the decrease in the death rate among people with HIV/AIDS receiving new treatments in the 1990s, the rates and severity of epidemic KS also decreased. However, the number of people living with HIV/AIDS is increasing in the United States, and it is possible that the number of people with AIDS-associated Kaposi sarcoma will again rise as these people live longer with HIV infection.
## Society[edit]
This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Kaposi's sarcoma" – news · newspapers · books · scholar · JSTOR (November 2020) (Learn how and when to remove this template message)
Because of their highly visible nature, external lesions are sometimes the presenting symptom of AIDS. Kaposi sarcoma entered the awareness of the general public with the release of the film Philadelphia, in which the main character was fired after his employers found out he was HIV-positive due to visible lesions. By the time KS lesions appear, it is likely that the immune system has already been severely weakened[citation needed].It has been reported that only 6% of men who have sex with men are aware that KS is caused by a virus different from HIV.[52] Thus, there is little community effort to prevent KSHV infection. Likewise, no systematic screening of organ donations is in place.
In people with AIDS, Kaposi sarcoma is considered an opportunistic infection, a disease that is able to gain a foothold in the body because the immune system has been weakened. With the rise of HIV/AIDS in Africa, where KSHV is widespread, KS has become the most frequently reported cancer in some countries.
## References[edit]
1. ^ Sand, M; Sand, D; Thrandorf, C; Paech, V; Altmeyer, P; Bechara, FG (4 June 2010). "Cutaneous lesions of the nose". Head & Face Medicine. 6: 7. doi:10.1186/1746-160X-6-7. PMC 2903548. PMID 20525327.
2. ^ Collins English Dictionary – Complete and Unabridged, 12th Edition 2014. S.v. "Kaposi's sarcoma." Retrieved August 15, 2017 from http://www.thefreedictionary.com/Kaposi's+sarcoma
3. ^ Random House Kernerman Webster’s College Dictionary. S.v. "Kaposi's sarcoma." Retrieved August 15, 2017 from http://www.thefreedictionary.com/Kaposi's+sarcoma
4. ^ a b c d e f g h i j k l m n o p "Kaposi Sarcoma Treatment". National Cancer Institute. 16 June 2017.
5. ^ Schneider JW, Dittmer DP (August 2017). "Diagnosis and Treatment of Kaposi Sarcoma". American Journal of Clinical Dermatology. 18 (4): 529–539. doi:10.1007/s40257-017-0270-4. PMC 5509489. PMID 28324233.
6. ^ a b c d e f g h i j k l Schwartz RA, Micali G, Nasca MR, Scuderi L (August 2008). "Kaposi sarcoma: a continuing conundrum". Journal of the American Academy of Dermatology. 59 (2): 179–206, quiz 207–8. doi:10.1016/j.jaad.2008.05.001. PMID 18638627.
7. ^ a b The Global Cancer Observatory (2019). "Kaposi sarcoma" (PDF). Retrieved 14 March 2020.
8. ^ a b c d "Kaposi Sarcoma Treatment". National Cancer Institute. 1 October 2015. Retrieved 18 December 2017.
9. ^ a b c Hoffmann C, Sabranski M, Esser S (2017). "HIV-Associated Kaposi's Sarcoma". Oncology Research and Treatment. 40 (3): 94–98. doi:10.1159/000455971. PMID 28259888. S2CID 9700628.
10. ^ Ferri, Fred F. (2017). Ferri's Clinical Advisor 2018 E-Book: 5 Books in 1. Elsevier Health Sciences. p. 735. ISBN 9780323529570.
11. ^ Kaposi, M (1872). "Idiopathisches multiples Pigmentsarkom der Haut". Archiv für Dermatologie und Syphilis. 4 (2): 265–273. doi:10.1007/BF01830024. S2CID 31438763.
12. ^ Chang Y, Cesarman E, Pessin MS, Lee F, Culpepper J, Knowles DM, Moore PS (December 1994). "Identification of herpesvirus-like DNA sequences in AIDS-associated Kaposi's sarcoma". Science. 266 (5192): 1865–9. Bibcode:1994Sci...266.1865C. doi:10.1126/science.7997879. PMID 7997879.
13. ^ Dezube BJ (October 1996). "Clinical presentation and natural history of AIDS--related Kaposi's sarcoma". Hematology/Oncology Clinics of North America. 10 (5): 1023–9. doi:10.1016/S0889-8588(05)70382-8. PMID 8880194.
14. ^ "Kaposi's Sarcoma". Taber's Cylcopedic Medical Dictionary. F. A. Davis company. 21: 1256. 2009.
15. ^ a b c d Soyer, H. Peter; Jakob, Lena; Metzler, Gisela; Chen, Ko-Ming; Garbe, Claus (2011). "Non-AIDS Associated Kaposi's Sarcoma: Clinical Features and Treatment Outcome". PLOS ONE. 6 (4): e18397. Bibcode:2011PLoSO...618397J. doi:10.1371/journal.pone.0018397. ISSN 1932-6203. PMC 3075253. PMID 21533260.
16. ^ Nichols CM, Flaitz CM, Hicks MJ (November 1993). "Treating Kaposi's lesions in the HIV-infected patient". Journal of the American Dental Association. 124 (11): 78–84. doi:10.14219/jada.archive.1993.0231. PMID 8227776. Archived from the original on 2007-09-29. Retrieved 2007-06-11.
17. ^ Danzig JB, Brandt LJ, Reinus JF, Klein RS (June 1991). "Gastrointestinal malignancy in patients with AIDS". The American Journal of Gastroenterology. 86 (6): 715–8. PMID 2038993.
18. ^ Garay SM, Belenko M, Fazzini E, Schinella R (January 1987). "Pulmonary manifestations of Kaposi's sarcoma". Chest. 91 (1): 39–43. doi:10.1378/chest.91.1.39. PMID 3792084. S2CID 41623543.
19. ^ Ablashi DV, Chatlynne LG, Whitman JE, Cesarman E (July 2002). "Spectrum of Kaposi's sarcoma-associated herpesvirus, or human herpesvirus 8, diseases". Clinical Microbiology Reviews. 15 (3): 439–64. doi:10.1128/cmr.15.3.439-464.2002. PMC 118087. PMID 12097251.
20. ^ Pauk J, Huang ML, Brodie SJ, Wald A, Koelle DM, Schacker T, Celum C, Selke S, Corey L (November 2000). "Mucosal shedding of human herpesvirus 8 in men". The New England Journal of Medicine. 343 (19): 1369–77. doi:10.1056/NEJM200011093431904. PMID 11070101.
21. ^ Parravicini C, Olsen SJ, Capra M, Poli F, Sirchia G, Gao SJ, Berti E, Nocera A, Rossi E, Bestetti G, Pizzuto M, Galli M, Moroni M, Moore PS, Corbellino M (October 1997). "Risk of Kaposi's sarcoma-associated herpes virus transmission from donor allografts among Italian posttransplant Kaposi's sarcoma patients". Blood. 90 (7): 2826–9. PMID 9326251.
22. ^ Hladik W, Dollard SC, Mermin J, Fowlkes AL, Downing R, Amin MM, Banage F, Nzaro E, Kataaha P, Dondero TJ, Pellett PE, Lackritz EM (September 2006). "Transmission of human herpesvirus 8 by blood transfusion". The New England Journal of Medicine. 355 (13): 1331–8. doi:10.1056/NEJMoa055009. PMID 17005950.
23. ^ Coffin JM, Hughes SH, Varmus HE (1997). Retroviruses. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press. ISBN 978-0-87969-571-2.
24. ^ Ensoli B, Sirianni MC (1998). "Kaposi's sarcoma pathogenesis: a link between immunology and tumor biology". Critical Reviews in Oncogenesis. 9 (2): 107–24. doi:10.1615/CritRevOncog.v9.i2.20. PMID 9973245.
25. ^ Gurzu S, Ciortea D, Munteanu T, Kezdi-Zaharia I, Jung I (2008). "Mesenchymal-to-endothelial transition in Kaposi sarcoma: a histogenetic hypothesis based on a case series and literature review". PLOS ONE. 8 (8): e71530. Bibcode:2013PLoSO...871530G. doi:10.1371/journal.pone.0071530. PMC 3735554. PMID 23936513.
26. ^ Beckstead JH, Wood GS, Fletcher V (May 1985). "Evidence for the origin of Kaposi's sarcoma from lymphatic endothelium". The American Journal of Pathology. 119 (2): 294–300. PMC 1887903. PMID 2986460.
27. ^ Rosai J (2011). Rosai and Ackerman's Surgical Pathology (10th ed.). Mosby. ISBN 978-0-8089-2433-3.
28. ^ Weninger W, et al. "Expression of vascular endothelial growth factor receptor-3 and podoplanin suggest a lymphatic endothelial origin of Kaposi's sarcoma tumor cells". Lab Invest. 1999 (79): 243–251.
29. ^ Blumenfeld W, et al. "Differential diagnosis of Kaposi's Sarcoma". Arch Pathol Lab Med. 1985 (109): 123–127.
30. ^ Griffiths, Christopher; Barker, Jonathan; Bleiker, Tanya O.; Chalmers, Robert; Creamer, Daniel (4 April 2016). Rook's textbook of dermatology (Ninth ed.). p. 31.29. ISBN 9781118441190.
31. ^ a b c d e f James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 978-0-7216-2921-6..
32. ^ Kumar P (2011). "Classic Kaposi's sarcoma in Arabs--widening ethnic involvement". Journal of Cancer Research and Therapeutics. 7 (1): 92–4. doi:10.4103/0973-1482.80456. PMID 21546753.
33. ^ Iscovich J, Boffetta P, Winkelmann R, Brennan P, Azizi E (October 1998). "Classic Kaposi's sarcoma in Jews living in Israel, 1961-1989: a population-based incidence study". AIDS. 12 (15): 2067–72. doi:10.1097/00002030-199815000-00019. PMID 9814876. S2CID 23848900.
34. ^ Fenig E, Brenner B, Rakowsky E, Lapidoth M, Katz A, Sulkes A (October 1998). "Classic Kaposi sarcoma: experience at Rabin Medical Center in Israel". American Journal of Clinical Oncology. 21 (5): 498–500. doi:10.1097/00000421-199810000-00016. PMID 9781608.
35. ^ a b Cook-Mozaffari P, Newton R, Beral V, Burkitt DP (December 1998). "The geographical distribution of Kaposi's sarcoma and of lymphomas in Africa before the AIDS epidemic". British Journal of Cancer. 78 (11): 1521–8. doi:10.1038/bjc.1998.717. PMC 2063225. PMID 9836488.
36. ^ Olsen SJ, Chang Y, Moore PS, Biggar RJ, Melbye M (October 1998). "Increasing Kaposi's sarcoma-associated herpesvirus seroprevalence with age in a highly Kaposi's sarcoma endemic region, Zambia in 1985". AIDS. 12 (14): 1921–5. doi:10.1097/00002030-199814000-00024. PMID 9792393. S2CID 1734745.
37. ^ Olsen SJ, Chang Y, Moore PS, Biggar RJ, Melbye M (October 1998). "Increasing Kaposi's sarcoma-associated herpesvirus seroprevalence with age in a highly Kaposi's sarcoma endemic region, Zambia in 1985". AIDS. 12 (14): 1921–5. doi:10.1097/00002030-199814000-00024. PMID 9792393. S2CID 1734745.
38. ^ Qunibi W, Al-Furayh O, Almeshari K, Lin SF, Sun R, Heston L, Ross D, Rigsby M, Miller G (February 1998). "Serologic association of human herpesvirus eight with posttransplant Kaposi's sarcoma in Saudi Arabia". Transplantation. 65 (4): 583–5. doi:10.1097/00007890-199802270-00024. PMID 9500639.
39. ^ Luppi M, Barozzi P, Schulz TF, Setti G, Staskus K, Trovato R, Narni F, Donelli A, Maiorana A, Marasca R, Sandrini S, Torelli G (November 2000). "Bone marrow failure associated with human herpesvirus 8 infection after transplantation". The New England Journal of Medicine. 343 (19): 1378–85. doi:10.1056/NEJM200011093431905. PMID 11070102.
40. ^ Borkovic SP, Schwartz RA (December 1981). "Kaposi's sarcoma presenting in the homosexual man -- a new and striking phenomenon!". Arizona Medicine. 38 (12): 902–4. PMID 7332494.
41. ^ Hausen HZ (2006). "Rhadinoviruses". Infections Causing Human Cancer. Weinheim: Wiley-VCH.
42. ^ Drabell FG (2006). "Kaposi's Sarcoma and Renal Diseases". New Topics in Cancer Research. New York: Nova Biomedical Books.
43. ^ Beral V, Peterman TA, Berkelman RL, Jaffe HW (January 1990). "Kaposi's sarcoma among persons with AIDS: a sexually transmitted infection?". Lancet. 335 (8682): 123–8. doi:10.1016/0140-6736(90)90001-L. PMID 1967430. S2CID 35639169.
44. ^ Tappero JW, Berger TG, Kaplan LD, Volberding PA, Kahn JO (1991). "Cryotherapy for cutaneous Kaposi's sarcoma (KS) associated with acquired immune deficiency syndrome (AIDS): a phase II trial". Journal of Acquired Immune Deficiency Syndromes. 4 (9): 839–46. doi:10.1097/00126334-199109000-00002. PMID 1895204. S2CID 19909703.
45. ^ Zimmerman EE, Crawford P (December 2012). "Cutaneous cryosurgery". American Family Physician. 86 (12): 1118–24. PMID 23316984.
46. ^ Anglemyer A, Agrawal AK, Rutherford GW (January 2014). "Treatment of Kaposi sarcoma in children with HIV-1 infection". The Cochrane Database of Systematic Reviews. 1 (1): CD009826. doi:10.1002/14651858.CD009826.pub2. PMID 24464843.
47. ^ McAllister SC, Hanson RS, Manion RD (November 2015). "Propranolol Decreases Proliferation of Endothelial Cells Transformed by Kaposi's Sarcoma-Associated Herpesvirus and Induces Lytic Viral Gene Expression". Journal of Virology. 89 (21): 11144–9. doi:10.1128/JVI.01569-15. PMC 4621132. PMID 26269192.
48. ^ Abdelmaksoud A, Filoni A, Giudice G, Vestita M (January 2017). "Classic and HIV-related Kaposi sarcoma treated with 0.1% topical timolol gel". Journal of the American Academy of Dermatology. 76 (1): 153–155. doi:10.1016/j.jaad.2016.08.041. PMID 27986137.
49. ^ Gill PS, Tulpule A, Espina BM, Cabriales S, Bresnahan J, Ilaw M, Louie S, Gustafson NF, Brown MA, Orcutt C, Winograd B, Scadden DT (June 1999). "Paclitaxel is safe and effective in the treatment of advanced AIDS-related Kaposi's sarcoma". Journal of Clinical Oncology. 17 (6): 1876–83. doi:10.1200/jco.1999.17.6.1876. PMID 10561228.
50. ^ Sgadari C, Toschi E, Palladino C, Barillari G, Carlei D, Cereseto A, Ciccolella C, Yarchoan R, Monini P, Stürzl M, Ensoli B (July 2000). "Mechanism of paclitaxel activity in Kaposi's sarcoma". Journal of Immunology. 165 (1): 509–17. doi:10.4049/jimmunol.165.1.509. PMID 10861090.
51. ^ "Summary of Product Characteristics" (PDF). EMA. Retrieved 14 March 2020.
52. ^ Phillips AM, Jones AG, Osmond DH, Pollack LM, Catania JA, Martin JN (December 2008). "Awareness of Kaposi's sarcoma-associated herpesvirus among men who have sex with men". Sexually Transmitted Diseases. 35 (12): 1011–4. doi:10.1097/OLQ.0b013e318182c91f (inactive 2021-01-11). PMC 2593118. PMID 18665016.CS1 maint: DOI inactive as of January 2021 (link)
## External links[edit]
* Kaposi sarcoma photo library at Dermnet
Classification
D
* ICD-10: C46
* ICD-9-CM: 176
* ICD-O: M9140/3
* OMIM: 148000
* MeSH: D012514
* DiseasesDB: 7105
External resources
* MedlinePlus: 000661
* eMedicine: med/1218 derm/203 oph/481
* Patient UK: Kaposi's sarcoma
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* 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
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Kaposi's sarcoma
|
c0036220
| 27,822 |
wikipedia
|
https://en.wikipedia.org/wiki/Kaposi%27s_sarcoma
| 2021-01-18T18:31:38 |
{"gard": ["6814"], "mesh": ["D012514"], "umls": ["C0153563", "C0346935", "C0346936", "C1334318", "C1334457", "C1333453", "C1333744", "C0153562", "C1332265", "C1335372", "C0153561", "C0153565", "C0153560", "C1333776", "C0036220", "C1335509", "C1332847", "C0153564"], "orphanet": ["33276"], "wikidata": ["Q725345"]}
|
Multiple sulfatase deficiency
Other namesJuvenile sulfatidosis, Austin type
Multiple sulfatase deficiency is autorecessive
SpecialtyEndocrinology
Multiple sulfatase deficiency (also known as "Austin disease",[1] and "mucosulfatidosis"[1]) is a very rare autosomal recessive[2]:561 lysosomal storage disease[3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.[4]:502[5] It is similar to mucopolysaccharidosis.[6]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Symptoms of this disorder commonly appear between one and two years of age. Symptoms include mildly coarsened facial features, deafness, ichthyosis[7] and an enlarged liver and spleen (hepatosplenomegaly).[8] Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with this disorder, is typically dry. Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills.[citation needed]
The disease is fatal, with symptoms that include neurological damage and severe mental retardation.[9] These sulfatase enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumulation of lipids and mucopolysaccharides inside the lysosome results in symptoms associated with this disorder. Worldwide, forty cases of Multiple Sulfatase Deficiency have been reported to date.[citation needed]
## Causes[edit]
Multiple sulfatase deficiency is thought to be caused by any mutation of the SUMF1 gene which would render its protein product, the formylglycine-generating enzyme (FGE), defective.[10][11] These mutations result in inactive forms of FGE.[12] This enzyme is required for posttranslational modification of a cysteine residue in the sulfatase enzyme active site into formylglycine,[13] which is required for its proper function.[14]
## Genetics[edit]
MSD has an autosomal recessive inheritance pattern.[2]:561 The inheritance probabilities per birth are as follows:
* If both parents are carriers:
* 25% (1 in 4) children will have the disorder
* 50% (2 in 4) children will be carriers (but unaffected)
* 25% (1 in 4) children will be free of MSD - unaffected child that is not a carrier
* If one parent is affected and one is free of MSD:
* 0% (0) children will have the disorder - only one parent is affected, other parent always gives normal gene
* 100% (4 in 4) children will be carriers (but unaffected)
* If one parent is a carrier and the other is free of MSD:
* 50% (2 in 4) children will be carriers (but unaffected)
* 50% (2 in 4) children will be free of MSD - unaffected child that is not a carrier
## Diagnosis[edit]
This section is empty. You can help by adding to it. (December 2016)
## Treatment[edit]
This section is empty. You can help by adding to it. (December 2016)
## See also[edit]
* Linear porokeratosis
* List of cutaneous conditions
## References[edit]
1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Dierks, T; Schmidt, B; Borissenko, Lv; Peng, J; Preusser, A; Mariappan, M; Von, Figura K (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705. S2CID 11571659.
4. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
5. ^ Schmidt, B; Selmer, T; Ingendoh, A; Von, Figura K (July 1995). "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell. 82 (2): 271–8. doi:10.1016/0092-8674(95)90314-3. PMID 7628016. S2CID 5864312.
6. ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology. 38 (8): 1273–5. doi:10.1212/wnl.38.8.1273. PMID 2899861. S2CID 35222500.
7. ^ The American Heritage Medical Dictionary: mucosulfatidosis
8. ^ Burk, R; Valle, D; Thomas, GH; Miller, C; Moser, A; Moser, H; Rosenbaum, KN (1984). "Early manifestations of multiple sulfatase deficiency†". The Journal of Pediatrics. 104 (4): 574–8. doi:10.1016/S0022-3476(84)80550-8. PMID 6142938.
9. ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol. 2 (3): 189–218. doi:10.1007/BF02834352. PMID 6152665. S2CID 36099212.
10. ^ Cosma MP, Pepe S, Annunziata I (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706. S2CID 15095377.
11. ^ Annunziata I, Bouchè V, Lombardi A (September 2007). "Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene". Human Mutation. 28 (9): 298. doi:10.1002/humu.9504. PMID 17657823. S2CID 8500605.
12. ^ Dierks T, Schmidt B, Borissenko LV (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705. S2CID 11571659.
13. ^ Preusser-Kunze A, Mariappan M, Schmidt B, Gande SL, Mutenda K, Wenzel D, von Figura K, Dierks T (April 2005). "Molecular Characterization of the Human C(alpha)-formylglycine-generating Enzyme". Journal of Biological Chemistry. 280 (15): 14900–14910. doi:10.1074/jbc.M413383200. PMID 15657036.
14. ^ Landgrebe J, Dierks T, Schmidt B (October 2003). "The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes". Gene. 316: 47–56. doi:10.1016/S0378-1119(03)00746-7. PMID 14563551.
## External links[edit]
Classification
D
* ICD-10: E75.26
* OMIM: 272200
* MeSH: D052517
External resources
* Orphanet: 585
* v
* t
* e
Lysosomal storage diseases: Inborn errors of lipid metabolism (Lipid storage disorders)
Sphingolipidoses
(to ceramide)
From ganglioside
(gangliosidoses)
* Ganglioside: GM1 gangliosidoses
* GM2 gangliosidoses (Sandhoff disease
* Tay–Sachs disease
* AB variant)
From globoside
* Globotriaosylceramide: Fabry's disease
From sphingomyelin
* Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
* type C)
* Glucocerebroside: Gaucher's disease
From sulfatide
(sulfatidoses
* leukodystrophy)
* Sulfatide: Metachromatic leukodystrophy
* Multiple sulfatase deficiency
* Galactocerebroside: Krabbe disease
To sphingosine
* Ceramide: Farber disease
NCL
* Infantile
* Jansky–Bielschowsky disease
* Batten disease
Other
* Cerebrotendineous xanthomatosis
* Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
* Sea-blue histiocytosis
* v
* t
* e
Disorders of translation and posttranslational modification
Translation
* Ribosome: Diamond–Blackfan anemia
* FMR1
* Fragile X syndrome
* Fragile X-associated tremor/ataxia syndrome
* Premature ovarian failure 1
* Initiation factor: Leukoencephalopathy with vanishing white matter
* snRNP: Retinitis pigmentosa 33
Posttranslational modification
Protein folding
* Alzheimer's disease
* Huntington's disease
* Creutzfeldt–Jakob disease
* chaperonins: 3-Methylglutaconic aciduria 5
Protein targeting
* I-cell disease
Ubiquitin
* E1: X-linked spinal muscular atrophy 2
* E3: Johanson–Blizzard syndrome
* Von Hippel–Lindau disease
* 3-M syndrome
* Angelman syndrome
* Deubiquitinating enzyme: Machado–Joseph disease
* Aneurysmal bone cyst
* Multiple familial trichoepithelioma 1
SUMO
* OFC10
Other
* Multiple sulfatase deficiency
* Hyperproinsulinemia
* Ehlers–Danlos syndrome 6
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[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
|
Multiple sulfatase deficiency
|
c0268263
| 27,823 |
wikipedia
|
https://en.wikipedia.org/wiki/Multiple_sulfatase_deficiency
| 2021-01-18T18:58:50 |
{"gard": ["5061"], "mesh": ["D052517"], "umls": ["C0268263", "C1720864"], "orphanet": ["585"], "wikidata": ["Q3281227"]}
|
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine.
People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density.
A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.
## Frequency
The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community.
## Causes
A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins.
All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
### Learn more about the gene associated with Congenital cataracts, facial dysmorphism, and neuropathy
* CTDP1
## 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
|
Congenital cataracts, facial dysmorphism, and neuropathy
|
c1858726
| 27,824 |
medlineplus
|
https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy/
| 2021-01-27T08:25:00 |
{"mesh": ["C565822"], "omim": ["604168"], "synonyms": []}
|
Lymphangiectasia
Lymphangiectasia shown on enteroscopy.
SpecialtyAngiology
Lymphangiectasia, also known as "lymphangiectasis"[1], is a pathologic dilation of lymph vessels.[2] When it occurs in the intestines of dogs, and more rarely humans, it causes a disease known as "intestinal lymphangiectasia".[2] This disease is characterized by lymphatic vessel dilation,[3] chronic diarrhea and loss of proteins such as serum albumin and globulin. It is considered to be a chronic form of protein-losing enteropathy.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 In animals
* 6 References
* 7 External links
## Signs and symptoms[edit]
Chronic diarrhea is almost always seen with lymphangiectasia, but most other signs are linked to low blood protein levels (hypoproteinemia), which causes low oncotic pressure. These signs include ascites, pleural effusion, and edema of the limbs and trunk. Weight loss is seen with long-term disease.[4]
## Cause[edit]
Biopsy of the small intestine shows dilation of the lacteals of the villi and distension of the lymphatic vessels.[5] Reduced lymph flow leads to a malabsorption syndrome of the small intestine, especially of fat and fat-soluble vitamins. Rupture of the lymphatics causes protein loss into the intestines.
The most common cause of lymphangiectasia was congenital malformation of the lymphatics.[6] Secondary lymphangiectasia may be caused by granulomas or cancer causing lymphatic obstruction, or increased central venous pressure (CVP) causing abnormal lymph drainage. Increased CVP can be caused by pericarditis or right-sided heart failure. Inflammatory bowel disease can also lead to inflammation of the lymphatics and lymphangiectasia through migration of inflammatory cells through the lymphatics.[4]
## Diagnosis[edit]
Diagnosis is through biopsy. The presence of hypoproteinemia, decreased blood lymphocytes, and decreased cholesterol support the diagnosis. Hypocalcemia (low calcium) is also seen due to poor absorption of vitamin D and calcium, and secondary to low protein binding of calcium. Medical ultrasonography may show striations in the intestinal mucosa indicating dilated lacteals.[7]
## Treatment[edit]
Treatment is multifactorial. A diet very low in fat and high in high quality protein is essential.[8] By limiting a dog’s fat intake, the amount of intestinal lymph that is formed is reduced which also reduces pressure within these faulty ducts. Less pressure means less lymph leakage and a reduction of symptoms. Diets for dogs with lymphangiectasia should not have more than 20% of their calories coming from fat. Treatment of humans can also involve the use of MCT (medium-chain triglycerides) oil and/or the drug octreotide. In dogs, fat soluble vitamins (A, D, E, and K) should be supplemented. Corticosteroid treatment may be required for life. Antibiotics can be used to treat bacterial overgrowth. With a very low serum albumin, transfusion with blood plasma or an infusion of hetastarch may be necessary to treat the signs until the diet can take effect.[9] Lymphangiectasia is rarely cured but can remain in remission for a long time. It can be fatal when unresponsive to treatment.
## In animals[edit]
Dog breeds commonly affected by lymphangiectasia and/or protein-losing enteropathy include the Soft-Coated Wheaten Terrier, Norwegian Lundehund, Basenji, and Yorkshire Terrier.[10]
## References[edit]
1. ^ "lymphangiectasia" at Dorland's Medical Dictionary
2. ^ a b McGavin/ Zachary (2007), Pathologic Basis of Veterinary Disease
3. ^ "lymphangiectasis" at Dorland's Medical Dictionary
4. ^ a b Fogle, Jonathan E.; Bissett, Sally A. (May 2007). "Mucosal Immunity and Chronic Idiopathic Enteropathies in Dogs". Compendium on Continuing Education for the Practicing Veterinarian. Veterinary Learning Systems. 29 (5): 290–302.
5. ^ Steiner, Jörg M. (2003). "Protein-Losing Enteropathies in Dogs". Proceedings of the 28th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-20.
6. ^ Kull P, Hess R, Craig L, Saunders H, Washabau R (2001). "Clinical, clinicopathologic, radiographic, and ultrasonographic characteristics of intestinal lymphangiectasia in dogs: 17 cases (1996-1998)". J Am Vet Med Assoc. 219 (2): 197–202. doi:10.2460/javma.2001.219.197. PMID 11469575.
7. ^ Sutherland-Smith J, Penninck D, Keating J, Webster C (2007). "Ultrasonographic intestinal hyperechoic mucosal striations in dogs are associated with lacteal dilation". Vet Radiol Ultrasound. 48 (1): 51–7. doi:10.1111/j.1740-8261.2007.00204.x. PMID 17236361.
8. ^ Matz, M.E. (2006). "Dietary Management of Gastrointestinal Disease". Proceedings of the North American Veterinary Conference. Retrieved 2007-03-20.
9. ^ Willard, Michael (2005). "Protein-Losing Enteropathy in Dogs and Cats". Proceedings of the 30th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-20.
10. ^ Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 978-0-7216-6795-9.
## External links[edit]
Classification
D
* ICD-9-CM: 457.1
* MeSH: D008200
* v
* t
* e
Lymphatic disease: organ and vessel diseases
Thymus
* Abscess
* Hyperplasia
* Hypoplasia
* DiGeorge syndrome
* Ectopic thymus
* Thymoma
* Thymic carcinoma
Spleen
* Asplenia
* Asplenia with cardiovascular anomalies
* Accessory spleen
* Polysplenia
* Wandering spleen
* Splenomegaly
* Banti's syndrome
* Splenic infarction
* Splenic tumor
Lymph node
* Lymphadenopathy
* Generalized lymphadenopathy
* Castleman's disease
* Intranodal palisaded myofibroblastoma
* Kikuchi disease
* Tonsils
* see Template:Respiratory pathology
Lymphatic vessels
* Lymphangitis
* Lymphangiectasia
* Lymphedema
* Primary lymphedema
* Congenital lymphedema
* Lymphedema praecox
* Lymphedema tarda
* Lymphedema–distichiasis syndrome
* Milroy's disease
* Secondary lymphedema
* Bullous lymphedema
* Factitial lymphedema
* Postinflammatory lymphedema
* Postmastectomy lymphangiosarcoma
* Waldmann 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
|
Lymphangiectasia
|
c0024214
| 27,825 |
wikipedia
|
https://en.wikipedia.org/wiki/Lymphangiectasia
| 2021-01-18T18:56:37 |
{"gard": ["6933"], "mesh": ["D008200"], "umls": ["C0024214"], "icd-9": ["457.1"], "wikidata": ["Q3832889"]}
|
Dopamine beta hydroxylase deficiency is a disease which affects the body’s ability to regulate blood pressure and body temperature. Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing (orthostatic hypotension), and low blood sugar levels (hypoglycemia). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. Other symptoms may include drooping eyelids (ptosis), nasal congestion, muscle pain, and weakness. Dopamine beta hydroxylase deficiency is caused by mutation in the DBH gene and is inherited in an autosomal recessive manner. Diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. Treatment with a synthetic form of norepinephrine can reduce hypotension.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Dopamine beta hydroxylase deficiency
|
c0342687
| 27,826 |
gard
|
https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency
| 2021-01-18T18:00:50 |
{"mesh": ["C535600"], "omim": ["223360"], "umls": ["C0342687"], "orphanet": ["230"], "synonyms": ["Norepinephrine deficiency", "Noradrenaline deficiency", "Dopamine beta-hydroxylase deficiency, congenital"]}
|
De Quervain's thyroiditis
Other namesGiant cell thyroiditis
Micrograph showing a granuloma in subacute thyroiditis. H&E stain.
SpecialtyEndocrinology
De Quervain's thyroiditis, also known as subacute granulomatous thyroiditis or giant cell thyroiditis, is a member of the group of thyroiditis conditions known as resolving thyroiditis. People of all ages and genders may be affected.
## Contents
* 1 Presentation
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Eponym
* 7 Terminology
* 8 References
* 9 External links
## Presentation[edit]
Patients will experience a hyperthyroid period as the cellular lining of colloid spaces fails, allowing abundant colloid into the circulation, with neck pain and fever. Patients typically then become hypothyroid as the pituitary reduces TSH production and the inappropriately released colloid is depleted before resolving to euthyroid. The symptoms are those of hyperthyroidism and hypothyroidism. In addition, patients may suffer from painful dysphagia. There are multi-nucleated giant cells on histology. Thyroid antibodies can be present in some cases. The clinical presentation during the hyperthyroid phase can mimic those of Diffuse Toxic Goiter or Graves' disease. In such cases, a radionuclide thyroid uptake and scan can be helpful, since subacute thyroiditis will result in decreased isotope uptake, while Graves' disease will generally result in increased uptake. Distinguishing between these two types of disease is important, since Graves' disease and Diffuse Toxic Goiter can be treated with radioiodine therapy, but subacute thyroiditis is usually self-limited and is not treated with radioiodine.
## Causes[edit]
Some cases may be viral in origin, perhaps preceded by an upper respiratory tract infection.[citation needed] Viral causes include Coxsackie virus, mumps and adenoviruses.[citation needed] Some cases develop postpartum[citation needed].
## Pathophysiology[edit]
In the initial phase of damage to the gland, preformed thyroid hormone will 'fall out' of the damaged cells. This leads to symptoms and biochemistry of an overactive thyroid (feels hot, trembly, anxious, loses weight, fast heart rate, sweaty, greasy hair), with raised free T3 and free T4, and a suppressed thyroid stimulating hormone (TSH) value. The damaged cells will no longer be able to take up iodine in order to manufacture further supplies of thyroid hormone, and thus in due course the patient comes to experience the symptoms of an underactive thyroid (feels cold, tired, depressed, gains weight, dry skin and hair) with low free T3 and free T4, and eventually increased TSH.[citation needed]
## Diagnosis[edit]
With the standard overactive thyroid, iodine uptake into the thyroid is avid, whereas if the cells are damaged, then uptake is poor. In this way, if there is doubt about whether the patient has too much thyroid hormone because of de Quervain's thyroiditis, then measuring radio-iodine uptake or technetium uptake gives a clear cut answer as it will be higher than normal in standard thyrotoxicosis and lower than normal in de Quervain's.[citation needed]
## Treatment[edit]
Treatment is beta blockers, aspirin, and NSAIDs (or corticosteroids if NSAIDs are ineffective).[citation needed]
## Eponym[edit]
It is named for Fritz de Quervain.[1] It should not be confused with De Quervain syndrome.
## Terminology[edit]
It is sometimes called subacute thyroiditis,[2] but there are other forms of subacute thyroiditis, subacute lymphocytic thyroiditis, postpartum thyroiditis, and autoimmune thyroiditis all of which, in contrast to de Quervain's, are typically painless or "silent". It is also sometimes called "painful subacute thyroiditis".[3] This is in contrast to subacute lymphocytic thyroiditis, which is also sometimes called "painless thyroiditis".
## References[edit]
1. ^ synd/1139 at Who Named It?
2. ^ Topuzovic N, Smoje J, Karner I (October 1997). "The therapeutic approach in subacute (de Quervain's) thyroiditis". J. Nucl. Med. 38 (10): 1665. PMID 9379217.
3. ^ Peter SA (October 1992). "Painful subacute thyroiditis (de Quervain's thyroiditis)". J Natl Med Assoc. 84 (10): 877–9. PMC 2571803. PMID 1404465.
## External links[edit]
Classification
D
* ICD-10: E06.1
* ICD-9-CM: 245.1
* MeSH: D013968
* DiseasesDB: 3474
External resources
* MedlinePlus: 000375
* eMedicine: med/534
* v
* t
* e
Thyroid disease
Hypothyroidism
* Iodine deficiency
* Cretinism
* Congenital hypothyroidism
* Myxedema
* Myxedema coma
* Euthyroid sick syndrome
* Signs and symptoms
* Queen Anne's sign
* Woltman sign
* Thyroid dyshormonogenesis
* Pickardt syndrome
Hyperthyroidism
* Hyperthyroxinemia
* Thyroid hormone resistance
* Familial dysalbuminemic hyperthyroxinemia
* Hashitoxicosis
* Thyrotoxicosis factitia
* Thyroid storm
Graves' disease
* Signs and symptoms
* Abadie's sign of exophthalmic goiter
* Boston's sign
* Dalrymple's sign
* Stellwag's sign
* lid lag
* Griffith's sign
* Möbius sign
* Pretibial myxedema
* Graves' ophthalmopathy
Thyroiditis
* Acute infectious
* Subacute
* De Quervain's
* Subacute lymphocytic
* Palpation
* Autoimmune/chronic
* Hashimoto's
* Postpartum
* Riedel's
Enlargement
* Goitre
* Endemic goitre
* Toxic nodular goitre
* Toxic multinodular goiter
* Thyroid nodule
* Colloid nodule
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
De Quervain's thyroiditis
|
c0040149
| 27,827 |
wikipedia
|
https://en.wikipedia.org/wiki/De_Quervain%27s_thyroiditis
| 2021-01-18T18:45:51 |
{"mesh": ["D013968"], "icd-9": ["245.1"], "icd-10": ["E06.1"], "wikidata": ["Q16485"]}
|
A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Congenital pseudoarthrosis of the femur
|
None
| 27,828 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295020
| 2021-01-23T17:01:27 |
{"icd-10": ["Q74.2"], "synonyms": ["Congenital pseudarthrosis of the femur"]}
|
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Chronic respiratory distress with surfactant metabolism deficiency
|
c1970470
| 27,829 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217566
| 2021-01-23T17:47:51 |
{"mesh": ["C567048"], "omim": ["610913"], "icd-10": ["J84.8"]}
|
A number sign (#) is used with this entry because pseudofolliculitis barbae (PFB) is associated with a polymorphism in the KRT75 gene (609025).
Clinical Features
Pseudofolliculitis barbae, also termed pili incarnati, 'ingrown hairs,' or 'razor bumps,' is a common human hair disorder that can occur in anyone who has curly hair and shaves. It most commonly occurs in the facial beard area, but can also occur on the scalp, neck, and groin. Regular shaving, in particular against the grain, is usually the precipitating factor in this disease. The razor produces short, sharp, and pointed hairs that penetrate the skin either in an extra- or transfollicular manner. These ingrowing hairs initiate a foreign body reaction producing erythematous papules and pustules that may heal with or without scarring and may produce keloid formation. Compared to Caucasian males, African American males are more susceptible to developing PFB due to their genetic predisposition for strongly curved hairs (Crutchfield, 1998; Winter et al., 2004).
Ross et al. (1993) reported a 24-year-old Caucasian male with pseudofolliculitis barbae confined to the right inframandibular region. The rash promptly subsided after 3 to 4 days without shaving but his employer's regulations required him to be clean-shaven. Physical examination of his right mandible showed that the lesions were confined to an area where the hairs grew downward as part of a 'beard whorl.' The individual hairs were not curved or coarse. The patient admitted to shaving against the grain but in this area it would be impossible to be clean-shaven due to the whorl. Ross et al. (1993) noted that the presence of the whorl in this patient contributed to the disorder, and emphasized the importance of identifying symptomatic beard whorls in men with PFB.
Molecular Genetics
In 2 affected members of a Caucasian family with pseudofolliculitis barbae, Winter et al. (2004) identified a heterozygous SNP in the KRT75 gene (A12T; 609025.0001). In a larger group of 200 individuals, Winter et al. (2004) found that the A12T SNP was present in 9% of individuals without the disorder and 35% with the disorder, which was a significant association (p less than 6 x 10(-6)). The incidence of the A12T substitution in the investigated population was approximately 3 times higher in African Americans compared to Caucasians (36.7% vs 10.9%). Subsequent regression analysis showed that the presence of curved hair follicles and the A12T substitution represented independent risk factors for the condition, with the A12T SNP yielding an odds ratio of 6.12. However, there was a more than 50 times higher risk of developing PFB in the presence of curly hair.
Population Genetics
Among 110 Caucasians and 90 African Americans, Winter et al. (2004) found a much higher incidence of PFB in the black population (82%) compared to the white population (18%). A minority of PFB-affected individuals were black (7%) and white women (3%), who noted PFB symptoms after shaving in the groin and/or the axilla.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
PSEUDOFOLLICULITIS BARBAE
|
c0549150
| 27,830 |
omim
|
https://www.omim.org/entry/612318
| 2019-09-22T16:01:49 |
{"mesh": ["C563016"], "omim": ["612318"], "icd-10": ["L73.1"], "synonyms": ["Alternative titles", "PFB", "PILI INCARNATI", "INGROWN HAIRS"]}
|
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
People with purine nucleoside phosphorylase deficiency have low numbers of immune system cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Some affected individuals also have low numbers of other immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders and mark them for destruction. The most severely affected individuals, who lack T cells and B cells, have a serious condition called severe combined immunodeficiency (SCID).
The shortage of immune system cells in people with purine nucleoside phosphorylase deficiency results in repeated and persistent infections typically beginning in infancy or early childhood. Infections most commonly affect the sinuses and lungs. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. The infections can be very serious or life-threatening, and without successful treatment to restore immune function, children with purine nucleoside phosphorylase deficiency usually do not survive past childhood.
Infants with purine nucleoside phosphorylase deficiency typically grow more slowly than healthy babies. About two-thirds of individuals with this condition also have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle stiffness (spasticity). People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs.
## Frequency
Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been described in the medical literature. This disorder accounts for approximately 4 percent of all SCID cases.
## Causes
Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes, which include T cells and B cells. Lymphocytes are produced in specialized lymphoid tissues, including the thymus and lymph nodes, and then released into the blood. The thymus is a gland located behind the breastbone; lymph nodes are found throughout the body. Lymphocytes in the blood and in lymphoid tissues are a major component of the immune system.
Purine nucleoside phosphorylase is known as a housekeeping enzyme because it clears away waste molecules that are generated when DNA is broken down. Mutations in the PNP gene reduce or eliminate the activity of purine nucleoside phosphorylase. The resulting excess of waste molecules and further reactions involving them lead to the buildup of a substance called deoxyguanosine triphosphate (dGTP) to levels that can be toxic to cells. Immature T cells in the thymus are particularly vulnerable to a toxic buildup of dGTP, which damages them and triggers their self-destruction (apoptosis). B cells and T cells in other lymphoid tissues can also be damaged. The shortage of T cells and sometimes B cells results in the immune problems characteristic of purine nucleoside phosphorylase deficiency. Damage to brain cells caused by buildup of dGTP is thought to underlie the neurological problems that occur in some people with purine nucleoside phosphorylase deficiency.
### Learn more about the gene associated with Purine nucleoside phosphorylase deficiency
* PNP
## 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
|
Purine nucleoside phosphorylase deficiency
|
c0268125
| 27,831 |
medlineplus
|
https://medlineplus.gov/genetics/condition/purine-nucleoside-phosphorylase-deficiency/
| 2021-01-27T08:24:48 |
{"gard": ["4606"], "mesh": ["C562587"], "omim": ["613179"], "synonyms": []}
|
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by x-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each side. In cases where the skeletal abnormalities are not the same on both sides of the body, the left side is usually more severely affected than the right side.
About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening. The most common problem is a defect in the muscular wall (septum) that separates the right and left sides of the heart. A hole in the septum between the upper chambers of the heart (atria) is called an atrial septal defect (ASD), and a hole in the septum between the lower chambers of the heart (ventricles) is called a ventricular septal defect (VSD). Some people with Holt-Oram syndrome have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). Cardiac conduction disease can occur along with other heart defects (such as ASD or VSD) or as the only heart problem in people with Holt-Oram syndrome.
The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome; however, these two disorders are caused by mutations in different genes.
## Frequency
Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.
## Causes
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). The TBX5 gene also appears to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to the characteristic features of Holt-Oram syndrome.
### Learn more about the gene associated with Holt-Oram syndrome
* TBX5
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Holt-Oram syndrome
|
c0265264
| 27,832 |
medlineplus
|
https://medlineplus.gov/genetics/condition/holt-oram-syndrome/
| 2021-01-27T08:25:11 |
{"gard": ["6666"], "mesh": ["C535326"], "omim": ["142900"], "synonyms": []}
|
A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Hyperkeratosis lenticularis perstans
|
c0263420
| 27,833 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=409
| 2021-01-23T18:16:32 |
{"gard": ["2824"], "mesh": ["C538377"], "omim": ["144150"], "umls": ["C0263420"], "synonyms": ["Flegel disease"]}
|
Lysosomal acid lipase deficiency is a metabolic lipid storage disease. Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum):
* Wolman disease: The early-onset and most severe form of the disease where lipids accumulate throughout the body, mostly in the liver, within the first weeks of life. Symptoms include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellowish color of the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption), as well as calcium deposits in adrenal glands, anemia, liver disease (cirrhosis), and developmental delay. Infants with this form of lysosomal acid lipase deficiency develop failure in multiple organs, and severe malnutrition.
* Cholesteryl ester storage disease: Less severe and starting later in life. Symptoms may include hepatosplenomegaly, liver disease (cirrhosis), and malabsorption with diarrhea, vomiting, and steatorrhea.
Lysosomal acid lipase deficiency is caused by mutations in the LIPA gene, which provides instructions to produce the lysosomal acid lipase enzyme. When there is not enough of this enzyme, the body cannot break down certain fats and this leads to a a toxic buildup of fatty substances in the body's cells and tissues. Inheritance is autosomal recessive. Enzyme replacement therapy for both Wolman disease and cholesteryl ester storage disease is currently approved for use in the United States, European Union, and Japan.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Lysosomal acid lipase deficiency
|
c2936797
| 27,834 |
gard
|
https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency
| 2021-01-18T17:59:17 |
{"mesh": ["C531854"], "omim": ["278000"], "orphanet": ["275761"], "synonyms": ["LAL deficiency", "LIPA deficiency"]}
|
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock and can also involve the upper arm and shoulder muscles. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.
Rarely, abnormal heart rhythms (arrhythmias) have developed in people with Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.
## Frequency
The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals.
## Causes
Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When Miyoshi myopathy is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy; when this condition is caused by DYSF gene mutations it is known as a dysferlinopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The protein produced from the DYSF gene, called dysferlin, is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain.
The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Anoctamin-5 is thought to act as a channel, allowing charged chlorine atoms (chloride ions) to flow in and out of the endoplasmic reticulum. The regulation of chloride flow within muscle cells plays a role in controlling muscle tensing (contraction) and relaxation.
DYSF and ANO5 gene mutations often result in a decrease or elimination of the corresponding protein. A lack of dysferlin leads to a reduced ability to repair damage done to the sarcolemma of muscle fibers. As a result, damage accumulates and leads to atrophy of the muscle fiber. It is unclear why this damage leads to the specific pattern of weakness and atrophy that is characteristic of Miyoshi myopathy. The effects of the loss of anoctamin-5 are also unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy.
### Learn more about the genes associated with Miyoshi myopathy
* ANO5
* DYSF
## 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.
This condition occurs with equal frequency in males and females.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Miyoshi myopathy
|
c4551973
| 27,835 |
medlineplus
|
https://medlineplus.gov/genetics/condition/miyoshi-myopathy/
| 2021-01-27T08:24:54 |
{"gard": ["9676"], "mesh": ["C537480"], "omim": ["254130", "613319"], "synonyms": []}
|
Hereditary persistence of fetal hemoglobin
Other namesHereditary persistence of foetal haemoglobin
SpecialtyPediatrics
Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which increased fetal hemoglobin (hemoglobin F, HbF) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.[1]
## Contents
* 1 Presentation
* 1.1 Sickle cell disease
* 2 Causes
* 3 Epidemiology
* 4 References
* 5 External links
## Presentation[edit]
The condition is asymptomatic, and is only noticed when screening for other hemoglobin disorders.
### Sickle cell disease[edit]
In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe. In essence the HbF inhibits polymerization of HbS. A similar mechanism occurs with persons who have sickle cell trait. Approximately 40% of the hemoglobin is in the HbS form while the rest is in normal HbA form. The HbA form interferes with HbS polymerization.[2]
## Causes[edit]
HPFH can be caused by mutations in the β globin gene cluster, or the γ gene promoter region.[1] In addition HbF levels are influenced by polymorphisms in the BCL11A gene[3] and in the MYB gene enhancer.[4] In HPFH the percentage of HbF varies from 0.8-1.0% to about 30% of the total hemoglobin, but levels as high as 100% can be seen in homozygotes for delta beta thalassemia.
## Epidemiology[edit]
About 10% of the population has an HbF level >1.0%.[1] HPFH may alleviate the severity of certain hemoglobinopathies and thalassemias, and is selected for in populations with a high prevalence of these conditions (which in turn are often selected for in areas where malaria is endemic). Thus, it has been found to affect people of African and Greek descent.[5]
## References[edit]
1. ^ a b c Thein, SL; Menzel, S (May 2009). "Discovering the genetics underlying foetal haemoglobin production in adults". British Journal of Haematology. 145 (4): 455–67. doi:10.1111/j.1365-2141.2009.07650.x. PMID 19344402.
2. ^ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009-05-28). Robbins and Cotran Pathologic Basis of Disease, Professional Edition: Expert Consult - Online (Robbins Pathology) (Kindle Locations 33411-33412). Elsevier Health. Kindle Edition.
3. ^ Basak, A; Sankaran, VG (March 2016). "Regulation of the fetal hemoglobin silencing factor BCL11A". Annals of the New York Academy of Sciences. 1368 (1): 25–30. doi:10.1111/nyas.13024. PMC 4870126. PMID 26963603.
4. ^ Stadhouders, R; Aktuna, S; Thongjuea, S; Aghajanirefah, A; Pourfarzad, F; van Ijcken, W; Lenhard, B; Rooks, H; Best, S; Menzel, S; Grosveld, F; Thein, SL; Soler, E (April 2014). "HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers". The Journal of Clinical Investigation. 124 (4): 1699–710. doi:10.1172/JCI71520. PMC 3973089. PMID 24614105.
5. ^ Friedman S, Schwartz E (January 1976). "Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family". Nature. 259 (5539): 138–40. doi:10.1038/259138a0. PMID 1246351.
## External links[edit]
Classification
D
* ICD-10: D56.4
* ICD-9-CM: 282.7
* OMIM: 141749
* v
* t
* e
Diseases of red blood cells
↑
Polycythemia
* Polycythemia vera
↓
Anemia
Nutritional
* Micro-: Iron-deficiency anemia
* Plummer–Vinson syndrome
* Macro-: Megaloblastic anemia
* Pernicious anemia
Hemolytic
(mostly normo-)
Hereditary
* enzymopathy: Glucose-6-phosphate dehydrogenase deficiency
* glycolysis
* pyruvate kinase deficiency
* triosephosphate isomerase deficiency
* hexokinase deficiency
* hemoglobinopathy: Thalassemia
* alpha
* beta
* delta
* Sickle cell disease/trait
* Hereditary persistence of fetal hemoglobin
* membrane: Hereditary spherocytosis
* Minkowski–Chauffard syndrome
* Hereditary elliptocytosis
* Southeast Asian ovalocytosis
* Hereditary stomatocytosis
Acquired
AIHA
* Warm antibody autoimmune hemolytic anemia
* Cold agglutinin disease
* Donath–Landsteiner hemolytic anemia
* Paroxysmal cold hemoglobinuria
* Mixed autoimmune hemolytic anemia
* membrane
* paroxysmal nocturnal hemoglobinuria
* Microangiopathic hemolytic anemia
* Thrombotic microangiopathy
* Hemolytic–uremic syndrome
* Drug-induced autoimmune
* Drug-induced nonautoimmune
* Hemolytic disease of the newborn
Aplastic
(mostly normo-)
* Hereditary: Fanconi anemia
* Diamond–Blackfan anemia
* Acquired: Pure red cell aplasia
* Sideroblastic anemia
* Myelophthisic
Blood tests
* Mean corpuscular volume
* normocytic
* microcytic
* macrocytic
* Mean corpuscular hemoglobin concentration
* normochromic
* hypochromic
Other
* Methemoglobinemia
* Sulfhemoglobinemia
* Reticulocytopenia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Hereditary persistence of fetal hemoglobin
|
c0019025
| 27,836 |
wikipedia
|
https://en.wikipedia.org/wiki/Hereditary_persistence_of_fetal_hemoglobin
| 2021-01-18T18:54:01 |
{"mesh": ["D017086"], "icd-9": ["282.7"], "icd-10": ["D56.4"], "wikidata": ["Q4351777"]}
|
Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Non-seminomatous germ cell tumor of testis
|
c0238451
| 27,837 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363494
| 2021-01-23T17:48:52 |
{"mesh": ["C562472"], "omim": ["273300"], "icd-10": ["C62.1"], "synonyms": ["Non-dysgerminomatous germ cell tumor of testis", "Testicular non seminomatous germ cell tumor", "Testicular non-dysgerminomatous germ cell tumor"]}
|
## Description
A bony peculiarity underlies the Y-shaped fissure of the chin.
Inheritance
Guenther (1939) found 9 cases in 5 generations, and von Meirowsky (1924) reported 25 cases in 4 generations. By casual observation, Gorlin (1982) noted it in 4 generations, and McKusick (1988) found it in 3 generations. McKusick (1992) stated that a publishing colleague of his who had this trait was in the third generation of affected males in his family. In general, females appear to be less conspicuously affected than males.
Facies \- Y-shaped fissure of chin \- Peculiarity of mandible 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
|
CLEFT CHIN
|
c1849227
| 27,838 |
omim
|
https://www.omim.org/entry/119000
| 2019-09-22T16:43:18 |
{"omim": ["119000"], "synonyms": ["Alternative titles", "CHIN DIMPLE"]}
|
For other uses, see Sprue.
Tropical sprue
Other namesPostinfectious tropical malabsorption[1]
SpecialtyGastroenterology
SymptomsDiarrhoea, abdominal pain, weight loss
ComplicationsMalabsorption, anaemia
Diagnostic methodIntestinal histology
Differential diagnosisCoeliac disease, environmental enteropathy
TreatmentAntibiotics, folate replacement
Tropical sprue is a malabsorption disease commonly found in tropical regions, marked with abnormal flattening of the villi and inflammation of the lining of the small intestine.[1][2] It differs significantly from coeliac sprue. It appears to be a more severe form of environmental enteropathy.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 References
* 10 External links
## Signs and symptoms[edit]
The illness usually starts with an attack of acute diarrhoea, fever and malaise following which, after a variable period, the patient settles into the chronic phase of diarrhoea, steatorrhoea, weight loss, anorexia, malaise, and nutritional deficiencies.[1][2][3] The symptoms of tropical sprue are:
* Diarrhoea
* Steatorrhoea or fatty stool (often foul-smelling and whitish in colour)
* Indigestion
* Cramps
* Weight loss and malnutrition
* Fatigue
Left untreated, nutrient and vitamin deficiencies may develop in patients with tropical sprue.[1][2] These deficiencies may have these symptoms:
* Vitamin A deficiency: hyperkeratosis or skin scales
* Vitamin B12 and folic acid deficiencies: anaemia
* Vitamin D and calcium deficiencies: spasm, bone pain, numbness, and tingling sensation
* Vitamin K deficiency: bruises
## Cause[edit]
The cause of tropical sprue is not known.[2] It may be caused by persistent bacterial, viral, amoebal, or parasitic infections.[5] Folic acid deficiency, effects of malabsorbed fat on intestinal motility, and persistent small intestinal bacterial overgrowth may combine to cause the disorder.[6] A link between small intestinal bacterial overgrowth and tropical sprue has been proposed to be involved in the aetiology of post-infectious irritable bowel syndrome (IBS).[7] Intestinal immunologic dysfunction, including deficiencies in secretory immunoglobulin A (IgA), may predispose people to malabsorption and bacterial colonization, so tropical sprue may be triggered in susceptible individuals following an acute enteric infection.[1]
## Diagnosis[edit]
Diagnosis of tropical sprue can be complicated because many diseases have similar symptoms. The following investigation results are suggestive:[1]
* Abnormal flattening of villi and inflammation of the lining of the small intestine, observed during an endoscopic procedure.
* Presence of inflammatory cells (most often lymphocytes) in the biopsy of small intestine tissue.
* Low levels of vitamins A, B12, E, D, and K, as well as serum albumin, calcium, and folate, revealed by a blood test.
* Excess fat in the feces (steatorrhoea).
* Thickened small bowel folds seen on imaging.
Tropical sprue is largely limited to within about 30 degrees north and south of the equator. Recent travel to this region is a key factor in diagnosing this disease in residents of countries outside of that geographical region.[2]
Other conditions which can resemble tropical sprue need to be differentiated.[4] Coeliac disease (also known as coeliac sprue or gluten sensitive enteropathy), has similar symptoms to tropical sprue, with the flattening of the villi and small intestine inflammation and is caused by an autoimmune disorder in genetically susceptible individuals triggered by ingested gluten. Malabsorption can also be caused by protozoan infections, tuberculosis, HIV/AIDS, immunodeficiency, chronic pancreatitis and inflammatory bowel disease.[2] Environmental enteropathy is a less severe, subclinical condition similar to tropical sprue.[2]
## Prevention[edit]
Preventive measures for visitors to tropical areas where the condition exists include steps to reduce the likelihood of gastroenteritis. These may comprise using only bottled water for drinking, brushing teeth, and washing food, and avoiding fruits washed with tap water (or consuming only peeled fruits, such as bananas and oranges). Basic sanitation is necessary to reduce fecal-oral contamination and the impact of environmental enteropathy in the developing world.[2]
## Treatment[edit]
Once diagnosed, tropical sprue can be treated by a course of the antibiotic tetracycline or sulphamethoxazole/trimethoprim (co-trimoxazole) for 3 to 6 months.[2][8] Supplementation of vitamins B12 and folic acid improves appetite and leads to a gain in weight.[4][9]
## Prognosis[edit]
The prognosis for tropical sprue may be excellent after treatment. It usually does not recur in people who get it during travel to affected regions. The recurrence rate for natives is about 20%,[2] but another study showed changes can persist for several years.[10]
## Epidemiology[edit]
Tropical sprue is common in the Caribbean, Central and South America, and India and southeast Asia.[2] In the Caribbean, it appeared to be more common in Puerto Rico and Haiti. Epidemics in southern India have occurred.[2]
## History[edit]
The disease was first described by William Hillary[11] in 1759 in Barbados.[12]Tropical sprue was responsible for one-sixth of all casualties sustained by the Allied forces in India and Southeast Asia during World War II.[2]The use of folic acid and vitamin B12 in the treatment of tropical sprue was promoted in the late 1940s by Dr. Tom Spies of the University of Alabama, while conducting his research in Cuba and Puerto Rico.[13][14][15]
## References[edit]
1. ^ a b c d e f Wanke, Christine A. (2015). "Tropical Sprue: enteropathy". In Bennett, John E.; Dolin, Raphael; Blaser, Martin J. (eds.). Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases (8 ed.). pp. 1297–1301. PMC 7151975.
2. ^ a b c d e f g h i j k l m Ramakrishna BS, Venkataraman S, Mukhopadhya A (2006). "Tropical malabsorption". Postgrad Med J. 82 (974): 779–87. doi:10.1136/pgmj.2006.048579. PMC 2653921. PMID 17148698.
3. ^ a b Korpe PS, Petri WA (2012). "Environmental enteropathy: critical implications of a poorly understood condition". Trends Mol Med. 18 (6): 328–36. doi:10.1016/j.molmed.2012.04.007. PMC 3372657. PMID 22633998.
4. ^ a b c Ghoshal UC, Srivastava D, Verma A, Ghoshal U (2014). "Tropical sprue in 2014: the new face of an old disease". Curr Gastroenterol Rep. 16 (6): 391. doi:10.1007/s11894-014-0391-3. PMC 7088824. PMID 24781741.
5. ^ Cook GC (1997). "'Tropical sprue': some early investigators favoured an infective cause, but was a coccidian protozoan involved?". Gut. 40 (3): 428–9. doi:10.1136/gut.40.3.428. PMC 1027098. PMID 9135537.
6. ^ Cook GC (1984). "Aetiology and pathogenesis of postinfective tropical malabsorption (tropical sprue)". Lancet. 1 (8379): 721–3. doi:10.1016/s0140-6736(84)92231-1. PMID 6143049. S2CID 41146323.
7. ^ Ghoshal UC, Gwee KA (2017). "Post-infectious IBS, tropical sprue and small intestinal bacterial overgrowth: the missing link". Nat Rev Gastroenterol Hepatol. 14 (7): 435–441. doi:10.1038/nrgastro.2017.37. PMID 28513629. S2CID 33660302.CS1 maint: uses authors parameter (link)
8. ^ Batheja MJ, Leighton J, Azueta A, Heigh R (2010). "The Face of Tropical Sprue in 2010". Case Rep Gastroenterol. 4 (2): 168–172. doi:10.1159/000314231. PMC 2929410. PMID 20805939.
9. ^ Klipstein FA, Corcino JJ (1977). "Factors responsible for weight loss in tropical sprue". Am. J. Clin. Nutr. 30 (10): 1703–8. doi:10.1093/ajcn/30.10.1703. PMID 910746.
10. ^ Rickles FR, Klipstein FA, Tomasini J, Corcino JJ, Maldonado N (1972). "Long-term follow-up of antibiotic-treated tropical sprue". Ann. Intern. Med. 76 (2): 203–10. doi:10.7326/0003-4819-76-2-203. PMID 5009590.
11. ^ Bartholomew C (November 1989). "William Hillary and sprue in the Caribbean: 230 years later". Gut. 30 (Special issue): 17–21. doi:10.1136/gut.30.spec_no.17. PMC 1440696. PMID 2691344.
12. ^ Hillary, William (1759). Observations on the Changes of the Air and the Concomitant Epidemical Diseases in the Island of Barbados: To which is Added a Treatise on the Putrid Bilious Fever, Commonly Called the Yellow Fever. pp. 277–281.
13. ^ Spies TD, Suarez RM, Suarez RM, Hernandez-Morales F (1946). "The Therapeutic Effect of Folic Acid in Tropical Sprue". Science. 104 (2691): 75–6. Bibcode:1946Sci...104...75S. doi:10.1126/science.104.2691.75. PMID 17769104.
14. ^ SUAREZ RM, SPIES TD (1949). "A note on the effectiveness of vitamin B12 in the treatment of tropical sprue in relapse". Blood. 4 (10): 1124–30. doi:10.1182/blood.V4.10.1124.1124. PMID 18139385.
15. ^ "Dr. Spies Receives Distinguished Service Medal". Journal of the American Medical Association. 164 (8): 878. 1957. doi:10.1001/jama.1957.02980080048013.
## External links[edit]
Classification
D
* ICD-10: K90.1
* ICD-9-CM: 579.1
* MeSH: D013182
* DiseasesDB: 13393
External resources
* MedlinePlus: 000275
* eMedicine: med/2162
* Patient UK: Tropical sprue
* 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]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Tropical sprue
|
c0038054
| 27,839 |
wikipedia
|
https://en.wikipedia.org/wiki/Tropical_sprue
| 2021-01-18T18:48:32 |
{"gard": ["7824"], "mesh": ["D013182"], "umls": ["C0038054"], "wikidata": ["Q585911"]}
|
A number sign (#) is used with this entry because of evidence that methylmalonic aciduria and homocystinuria of the cblJ type (MAHCJ) is caused by compound heterozygous mutation in the ABCD4 gene (603214) on chromosome 14q24.
Description
Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012).
Clinical Features
Coelho et al. (2012) reported 2 unrelated patients with methylmalonic aciduria and homocystinuria. Both patients showed abnormalities soon after birth. One patient, of North American origin, had respiratory distress, hypotonia, lethargy, poor feeding, periodic breathing, and episodes of posturing in the neonatal period. There was evidence of bone marrow suppression requiring red blood cell and platelet transfusion. The second child, of European origin, had increased temperature and tachypnea at birth. The patient had feeding difficulties, poor growth, hypotonia, and developmental delay. Some dysmorphic features were also present, including hypertelorism, micrognathia, widely spaced nipples, bell-shaped thorax, horizontal ribs, and short extremities. He also had some cardiac abnormalities, including atrial septal defect, coarctation of the aorta, enlarged right ventricle, and pulmonary hypertension. The patient had an episode of neutropenia later in childhood. Studies of cultured fibroblasts in both patients showed increased cobalamin uptake, but poor cobalamin utility, as manifest by virtually absent synthesis of AdoCbl and MeCbl and decreased function of MUT and MTR. There was cellular accumulation of free cbl, similar to that observed in cblF (277380). Somatic cell complementation studies showed that both patients had the same genetic defect; mutations in the LMBRD1 gene (612625) were not found.
Inheritance
The transmission pattern of methylmalonic aciduria and homocystinuria of the cblJ type reported by Coelho et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 unrelated children with methylmalonic aciduria and homocystinuria type cblJ, Coelho et al. (2012) identified 4 different mutations in the ABCD4 gene (603214.0001-603214.0004) in compound heterozygous state. The mutations, which were found using microcell-mediated chromosome transfer and exome sequencing, resulted in a loss of function. Biochemical studies confirmed a defect in cobalamin metabolism and were similar to abnormalities observed in patients with cblF (277380). Patient cell lines showed no rescue of the defect when transfected with LMBRD1, suggesting that these 2 genes function in the same pathway. Studies suggested that ABCD4 is involved in the lysosomal release of cbl into the cytoplasm.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor growth HEAD & NECK Face \- Micrognathia (1 patient) Eyes \- Hypertelorism (1 patient) CARDIOVASCULAR Heart \- Atrial septal defect (1 patient) \- Coarctation of the aorta (1 patient) \- Enlarged right ventricle (1 patient) \- Small left ventricle (1 patient) Vascular \- Pulmonary hypertension (1 patient) RESPIRATORY \- Breathing difficulties in the neonatal period \- Tachypnea CHEST Breasts \- Widely spaced nipples (1 patient) ABDOMEN External Features \- Inguinal hernia Gastrointestinal \- Poor feeding \- Gastroesophageal reflux (1 patient) GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism (1 patient) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Lethargy \- Abnormal posturing \- Delayed psychomotor development (1 patient) \- Cerebral atrophy (1 patient) HEMATOLOGY \- Anemia \- Thrombocytopenia \- Neutropenia LABORATORY ABNORMALITIES \- Methylmalonic acidemia \- Methylmalonic aciduria \- Homocystinemia \- Homocystinuria \- Decreased adenosylcobalamin (AdoCbl) \- Decreased methylcobalamin (MeCbl) \- Decreased activity of methylmalonyl-CoA mutase (MUT, 609058 ) \- Decreased activity of methionine synthase (MTR, 156570 ) \- Increased free cyanocobalamin in fibroblasts MISCELLANEOUS \- Onset at birth \- Two unrelated patients have been reported (last curated October 2012) MOLECULAR BASIS \- Caused by mutation in the ATP-binding cassette, subfamily D, member 4 gene (ABCD4, 603214.0001 ) ▲ 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
|
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
|
c1848561
| 27,840 |
omim
|
https://www.omim.org/entry/614857
| 2019-09-22T15:54:00 |
{"mesh": ["C537359"], "omim": ["614857"], "orphanet": ["26", "369955"]}
|
A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13.
Description
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).
For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200.
### Historical Classification of Pachyonychia Congenita
Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.
Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.
On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.
Nomenclature
The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (Eliason et al., 2012) and PC-K6b (Shah et al., 2014).
Clinical Features
Smith et al. (1998) reported a 5-generation Dutch family segregating autosomal dominant pachyonychia congenita, which was described as the Jackson-Lawler type. Hypertrophic nail dystrophy affected all fingernails and toenails, and focal palmoplantar keratoderma occurred on the pressure points of the feet. Steatcystomas were widespread in postpubescent affected individuals. Mild lingual hyperkeratosis was present on the margins of the tongue.
Molecular Genetics
In affected members of a family segregating pachyonychia congenita of the Jackson-Lawler type, Smith et al. (1998) identified heterozygosity for a missense mutation in the KRT6B gene (E472K; 148042.0001).
In 2 families (families 29 and 30) segregating pachyonychia congenita, Smith et al. (2005) identified heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by Smith et al. (1998). Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
PACHYONYCHIA CONGENITA 4
|
c0265334
| 27,841 |
omim
|
https://www.omim.org/entry/615728
| 2019-09-22T15:51:06 |
{"mesh": ["D053549"], "omim": ["615728"], "orphanet": ["2309"], "genereviews": ["NBK1280"]}
|
Coronary artery anomalies are variations of the coronary circulation, affecting <1% of the general population. Symptoms include chest pain, shortness of breath and syncope, although cardiac arrest may be the first clinical presentation. Several varieties are identified, with a different potential to cause sudden cardiac death.
## Contents
* 1 Anatomy and physiology of coronary arteries
* 2 Normal variants, anomalies and epidemiological data
* 3 Classification and pathophysiology
* 4 Diagnosis, screening and treatment
* 5 References
* 6 External links
## Anatomy and physiology of coronary arteries[edit]
Coronary arteries are vessels supplying blood and nutrients to the heart muscle (myocardium).
Coronary arteries arise from ostia, openings of the aorta (the largest artery in the human body) at the upper third or middle third of the sinuses of Valsalva (the first part of the big pipe coming off the main pumping chamber). The walls of coronary arteries consist of three layers: the tunica intima or inner layer (possible site of lipid deposits and fibrosis, during life), the tunica media (a smooth muscle layer whose tone is modulated by the nervous system, influencing vessel diameter and resistance) and adventitia (where nervous endings are located). Normally, the initial portion of coronary arteries lies onto the external surface of the heart (epicardium) where fat deposits tend to form during life.
In normal anatomy, three essential coronary arteries are identified: right coronary artery (RCA), left anterior descending artery (LAD) and left circumflex artery (LCx). LAD and LCx usually originate from the bifurcation of a common vessel known as left main trunk or left coronary artery (LM or LCA).
Coronary arteries are identified according to the myocardial territory they feed:
1) the LAD supplies the anterior interventricular septum and anterior left ventricular free wall;
2) the LCx supplies the posterolateral left ventricular free wall;
3) the RCA supplies the right ventricular free wall;
In fact, despite a certain degree of variability in coronary artery anatomy among individuals, there is greater consistency in the regions of the heart that are supplied by the different coronary arteries.
The posterior descending artery, providing blood flow to the infero-posterior wall of the heart, originates from the RCA in 70-90% of individuals (“right coronary dominance”), whereas in 10-15% cases it originates from the LCx (“left coronary dominance”).
Coronary vessels diameter progressively decreases proceeding from their origin to the periphery. Besides the LM, LAD, LCx and RCA, arterial vessels that are large enough to be identified by clinical angiography are called “branches”, while capillaries represent the smallest peripheral vessels of the coronary tree that lack muscular tissue (and capacity to cause spasm) and are responsible for oxygen and nutrients exchange within the myocardium.
## Normal variants, anomalies and epidemiological data[edit]
Regarding coronary artery anatomy, a distinction must be provided when assessing abnormalities:
\- normal: any morphological feature observed in >1% of an unselected population
\- normal variant: an alternative, unusual but benign morphological feature identified in >1% of the same population (e.g. left main is absent in 1-2% of the general population with LAD and LCx originating from separate ostia - “absent left trunk” variant)
\- coronary artery anomaly (CAA): a morphological feature seen in <1% of that population, capable of causing dysfunction
The prevalence of coronary artery anomalies is inconsistent across the scientific literature, but they are considered to affect <1% of the general population. Specifically, recent data came from MRI screening of a large population (more than 5000 young children) and provided a precise estimate, suggesting that coronary artery anomalies are present in 0.45% of the US population (approximately 1.300.000 people).[1]
## Classification and pathophysiology[edit]
CAAs include a wide spectrum of entities with different severity. We can schematically distinguish anomalies at the ostium, such as congenital ostial atresia or stenosis or anomalous origin of a coronary artery from the opposite sinus [ACAOS] (examples: right coronary artery anomalous origin from the opposite sinus [R-ACAOS] and left coronary artery origin from the opposite sinus [R-ACAOS]); anomalies at the mid segments (such as myocardial bridge [MB]); anomalies at the termination (such as coronary arteriovenous fistulas).
Anomalous origin of a coronary artery from the opposite sinus are relevant on a clinical level due to a significant association with sudden cardiac death, if they are accompanied by intramural course. Indeed, the main feature responsible for adverse outcomes is the “intramural” course (sometimes improperly referred to as inter-arterial) characterized by an acute ostial angulation (tangential course), “slit-like” ostium (compressed inside the aortic wall), and a proximal or initial section penetrating into the aortic tunica media (coronary arteries normally take off at a 90 degree angle) with subsequent course reaching the “correct” side of the heart. As a consequence, lateral compression of the coronary artery leads to coronary luminal (inside opening) narrowing, with reduced supply of blood and oxygen to the depending myocardial tissue, that is phasic (worse in systole, the phase of cardiac contraction, and tachycardia). Furthermore, the intramural segment of the ectopic artery, located inside the aorta, is typically but variably “hypoplastic”, smaller in circumference than the distal, extramural segments (it is unable to grow properly either before or after birth).
Autonomic and/or endothelial dysfunction may occur and induce spasm and/or thrombosis at anomalous sites (and critical ischemia), although intracoronary clotting has been rarely observed. Therefore, stenosis of an intramural proximal segment, lateral compression and spastic hyperreactivity are the mechanisms that have been linked to clinical manifestation. Coronary narrowing is most likely the main process implied in ACAOS, and it may result in symptoms such as chest pain (“angina pectoris”), dyspnea (shortness of breath), palpitations, cardiac arrhythmias (heart rhythm disorders), syncope (fainting). In most cases, however, coronary artery anomalies are silent for many years and the first clinical manifestation of these pathological entities is sudden cardiac death (e.g. due to malignant arrhythmias such as ventricular fibrillation) typically after strenuous physical exertion (when arterial compression is more severe, and cardiac work is maximal) such as in young athletes or military recruits. Of note, 19-33% (in different studies) of sudden deaths in young athletes are due to coronary artery anomalies. Clinical manifestations can be found in non-athletic, older individuals and are commonly associated with hypertension and aortic dilatation with worsening degree of compression.
L-ACAOS-IM (intramural) is seen in 0.1% of young children and, among coronary anomalies, it has the highest probability of clinical repercussions, being consistently associated with sudden cardiac death following physical exercise.
Several more varieties of L-ACAOS are described:
\- prepulmonic (L-ACAOS-PP): origin of the LCA (or only the LAD) from the right sinus of Valsalva (RSV) with an epicardial course (on the surface of the heart) anterior to the pulmonary outflow tract - this does not usually cause stenosis nor requires intervention (benign anomaly, unless spasm occurs);
\- subpulmonary, infundibular or intraseptal (L-ACAOS-SP): the LCA (or only the LAD) originates from the RSV, initially runs inter-arterially (outside the aortic wall) then intramyocardially inside in the ventricular septum and finally epicardially in the anterior interventricular groove - this anomaly is considered benign since it is not associated with significant fixed degree of stenosis (but it could cause spasm);
\- retroaortic (L-ACAOS-RA): origin of the LCA or the only LCx from the RSV or from the RCA, running behind the aortic root and at the central fibrous mitro-aortic septum – this is considered as a benign anomaly (but it could cause spasm);
\- retrocardiac (L-ACAOS-RC) – LCA originates from the RCA at the atrioventricular groove - or wrap-around the apex (L-ACAOS-WA) – generally benign, unless spasm occurs.
General scheme to identify possible courses of normal and ectopic coronary origin. AA = antero-left; AR = antero-right; Cx = circumfles artery; IM = intramural; IS = intraseptal; LAD = left anterior descending artery; M = mitral valve; P = posterior; PP = prepulmonic; RA = retroaortic; RC = retrocardiac; RCA = right coronary artery; T = tricuspid valve.
R-ACAOS-IM[2] is observed in a higher percentage of cases (0.35% of adolescents) than L-ACAOS-IM[3] but is less likely to be associated with sudden cardiac death in athletes. Varieties of R-ACAOS such as prepulmonic, retroaortic and intraseptal can occur and are considered generally benign.
The most frequent symptomatic coronary anomaly in infants and young children is anomalous origin of the left coronary artery from the pulmonary artery, which may cause acute myocardial infarction at neonatal age and requires emergent surgery at the time of diagnosis.[4]
Anomalies at the mid segments include myocardial bridges, affecting >1% of the clinical population, and characterized by an intramyocardial course of coronary arteries within the muscle fibers. This may lead to systolic compression which is usually mild (coronary blood flow is mostly diastolic). Significant ischemia is rare in isolated myocardial bridges, and if present this is generally due to localized endothelial dysfunction with a tendency to spasm. Most myocardial bridges are benign and do not require any intervention.
Coronary artery aneurysms are defined as a > 50% increase of the vessel diameter. Some cases are congenital/idiopathic, but most are secondary to atherosclerosis or Kawasaki disease (an immuno-inflammatory disease especially targeting coronary vessels wall). Potential complications include localized thrombosis, distal embolization, rupture, or late lipid deposits.
Coronary arteriovenous fistulas are anomalies at the termination consisting of an anomalous connection of coronary arteries to coronary veins, veins of the pulmonary or systemic circulations, or to any cardiac cavity. Smaller fistulas are usually benign, and only severe cases can be complicated by aneurysmatic dilatation with potential thrombosis and distal embolization, volume overload or “blood steal” from arterial circulation and subsequent ischemia. Treatment is generally not required.
## Diagnosis, screening and treatment[edit]
There is not enough clarity and consistency among experts in regard to the subject of coronary artery anomalies, their classification, severity and management. Precise, unequivocal recommendations are still lacking and further investigation is required to properly assess the risk associated with such anomalies and offer treatment based on individual severity. Nonetheless, given their often “silent” nature, effective screening of the population in search of these entities is necessary in order to prevent complications such as sudden cardiac death, especially in athletes and young individuals engaging in strenuous physical activity.
Coronary artery anomalies cannot be identified solely on the basis of EKG and clinical history: carriers are often asymptomatic before cardiac arrest may occur, and when symptoms are present, they are nonspecific, especially in young individuals. Diagnosis of such entities is often made incidentally in patients undergoing imaging tests during routine screening.
There is an open debate about the cost/efficiency of generalized diagnostic screening in large populations. Carriers of coronary artery anomalies may receive positive results following stress/imaging tests. However, only in a minority of cases ischemia in the context of coronary artery anomalies is reproducible by stress or imaging testing and is mainly associated with particular conditions such as intense (maximal) exercise, which may lead to confusing results and misdiagnosis by techniques such as treadmill test or nuclear testing.
Nonetheless, routine screening of high-risk populations (e.g. individuals participating in competitive sports) should be generally encouraged in clinical practice of sports cardiologists.
Cross-sectional computed tomography angiogram of RCA (between aorta and pulmonary artery) at the worst intramural site of compression (right anterior oblique projection). Black arrow = compressed intramural RCA.
Intravascular ultrasound imaging of intramural RCA during systole (left) and diastole (right) in a patient with mild symptoms.
Various imaging tests have a potential to identify coronary artery anomalies. Echocardiography (ultrasound scanning of the heart) is simple, non-invasive and economical. Its use for CAAs screening is limited because its diagnostic sensitivity is highly dependent on the operator's skills and is significantly lower in larger individuals (>40 kg). The diagnostic power of echocardiography is generally poor in most cases after infancy. Especially if clinical suspicion for CAAs is high (e.g. syncope following exertion and/or history of aborted sudden cardiac death). Cardiac magnetic resonance (CMR) is an excellent tool to identify coronary artery anomalies with a significantly higher diagnostic accuracy than standard echocardiography. Compared to CMR, coronary computed tomographic angiography (CCTA) provides more precise assessment of coronary anatomy, course and degree of stenosis, but its clinical use for screening is strongly limited by its cost, the need for ionizing radiation, intravenous contrast and, in many cases, drugs administration. Assessment of severity of stenosis is best achieved by intravascular ultrasound (IVUS) imaging and it should be considered in known carriers of ACAOS-IM or that have symptoms or positive stress test results or are involved in competitive exercises. IVUS consists of cross-sectional imaging of coronary arteries in a catheterization laboratory by advancing a thin probe inside the vascular lumen, obtaining precise in-vivo information about degree of area stenosis in different arterial segments, providing a solid basis for treatment strategies.
Criteria for intervention in ACAOS-IM are:
\- symptoms of effort-related chest pain, shortness of breath, syncope or aborted sudden cardiac death (Class I, Level of Evidence A/B) and/or high-risk professional lifestyle.
\- positive treadmill stress test, ideally by nuclear technology, in the correct dependent myocardial territory, in the presence of intramural course (Class I, Level of Evidence B)
For special populations, e.g. athletes, treatment may be indicated with specific advice of medical experts, in the absence of the previously mentioned criteria. Cut-off for stenosis severity requiring intervention is not clear, although narrowing >50% in comparison to the distal normal segment is generally accepted as a marker of severity in L-ACAOS-IM. Decisions on treatment should be guided by the patient's individual characteristics such as age, symptoms, profession and level of engagement in physical activity. Pharmacological treatment and observation may be appropriate in selected, low-risk patients. Importantly, untreated carriers of significant ACAOS should not generally engage in competitive sports or strenuous activities.
Treatment options for ACAOS-IM include both catheter-based procedures (percutaneous coronary intervention [PCI]) and surgical interventions. PCI consists of stent angioplasty of the proximal, intramural segment by placing a thin metal tube (a stent) in order to keep open the narrowed artery. PCI of R-ACAOS-IM is feasible and quite successful, but further experience is needed in L-ACAOS-IM since few cases have been treated percutaneously, while surgery is the recommended treatment in this subpopulation, at this time. Surgery consists of “unroofing” or denudation of the intramural coronary segment from the aortic wall: this approach is currently the gold standard. Coronary artery bypass grafting (CABG) and reimplantation of the ectopic artery are obsolete and not indicated, because of competitive flow in mild resting narrowings.[5]
## References[edit]
1. ^ Angelini, Paolo; Cheong, Benjamin Y.; Lenge De Rosen, Veronica V.; Lopez, Alberto; Uribe, Carlo; Masso, Anthony H.; Ali, Syed W.; Davis, Barry R.; Muthupillai, Raja; Willerson, James T. (August 2018). "High-Risk Cardiovascular Conditions in Sports-Related Sudden Death: Prevalence in 5,169 Schoolchildren Screened via Cardiac Magnetic Resonance". Texas Heart Institute Journal. 45 (4): 205–213. doi:10.14503/thij-18-6645. ISSN 0730-2347. PMC 6183627. PMID 30374227.
2. ^ Angelini, Paolo; Uribe, Carlo; Monge, Jorge; Tobis, Jonathan M.; Elayda, MacArthur A.; Willerson, James T. (2015-07-14). "Origin of the right coronary artery from the opposite sinus of Valsalva in adults: Characterization by intravascular ultrasonography at baseline and after stent angioplasty". Catheterization and Cardiovascular Interventions. 86 (2): 199–208. doi:10.1002/ccd.26069. ISSN 1522-1946. PMID 26178792.
3. ^ Angelini, Paolo; Uribe, Carlo (2018-07-26). "Anatomic spectrum of left coronary artery anomalies and associated mechanisms of coronary insufficiency". Catheterization and Cardiovascular Interventions. 92 (2): 313–321. doi:10.1002/ccd.27656. ISSN 1522-1946. PMID 30051621. S2CID 51724571.
4. ^ Angelini P, ed. Coronary Artery Anomalies: A Comprehensive Approach. Philadelphia: Lippincott Williams & Wilkins; 1999:27-150.
5. ^ Poynter, Jeffrey A.; Williams, William G.; McIntyre, Susan; Brothers, Julie A.; Jacobs, Marshall L.; Overman, David; Bondarenko, Igor; Forbess, Joseph; Jacobs, Marshall L.; Lorber, Richard; Chen, Jonathan (January 2014). "Anomalous Aortic Origin of a Coronary Artery". World Journal for Pediatric and Congenital Heart Surgery. 5 (1): 22–30. doi:10.1177/2150135113516984. ISSN 2150-1351. PMID 24403351. S2CID 20656112.
## External links[edit]
Classification
D
* ICD-10: Q24.5
* ICD-9-CM: 746.85
* MeSH: D003330
* DiseasesDB: 34206
External resources
* eMedicine: med/445 ped/2506
* v
* t
* e
Congenital heart defects
Heart septal defect
Aortopulmonary septal defect
* Double outlet right ventricle
* Taussig–Bing syndrome
* Transposition of the great vessels
* dextro
* levo
* Persistent truncus arteriosus
* Aortopulmonary window
Atrial septal defect
* Sinus venosus atrial septal defect
* Lutembacher's syndrome
Ventricular septal defect
* Tetralogy of Fallot
Atrioventricular septal defect
* Ostium primum
Consequences
* Cardiac shunt
* Cyanotic heart disease
* Eisenmenger syndrome
Valvular heart disease
Right
* pulmonary valves
* stenosis
* insufficiency
* absence
* tricuspid valves
* stenosis
* atresia
* Ebstein's anomaly
Left
* aortic valves
* stenosis
* insufficiency
* bicuspid
* mitral valves
* stenosis
* regurgitation
Other
* Underdeveloped heart chambers
* right
* left
* Uhl anomaly
* Dextrocardia
* Levocardia
* Cor triatriatum
* Crisscross heart
* Brugada syndrome
* Coronary artery anomaly
* Anomalous aortic origin of a coronary artery
* Ventricular inversion
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Coronary artery anomaly
|
c0158623
| 27,842 |
wikipedia
|
https://en.wikipedia.org/wiki/Coronary_artery_anomaly
| 2021-01-18T18:43:35 |
{"gard": ["1534"], "mesh": ["D003330"], "umls": ["C0158623"], "icd-10": ["Q24.5"], "orphanet": ["1081"], "wikidata": ["Q5172184"]}
|
Chromosome 16p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.
This page is meant to provide general information about 16p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome 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
|
Chromosome 16p deletion
|
None
| 27,843 |
gard
|
https://rarediseases.info.nih.gov/diseases/10853/chromosome-16p-deletion
| 2021-01-18T18:01:25 |
{"synonyms": ["Deletion 16p", "Monosomy 16p", "16p deletion", "16p monosomy"]}
|
A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Sickle cell-beta-thalassemia disease syndrome
|
c0221019
| 27,844 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251359
| 2021-01-23T18:30:49 |
{"gard": ["10333", "10819"], "umls": ["C0221019", "C0857812"], "icd-10": ["D57.2"], "synonyms": ["HbS-beta-thalassemia syndrome"]}
|
A number sign (#) is used with this entry because it represents a contiguous gene syndrome on chromosome 3q13.31 (chr3:103.32-128.18 Mb).
Description
The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012).
Patients with Primrose syndrome (PRIMS; 259050) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. Primrose syndrome is caused by mutation in the ZBTB20 gene (606025) on chromosome 3q13.
Clinical Features
Ogilvie et al. (1998) reported an unrelated girl and boy with interstitial deletions at chromosome 3q12-q21 (see CYTOGENETICS). The 4-year-old girl, who had no speech, was born at term but was hypotonic and a poor feeder. She first walked at age 3 years and had a broad-based gait, but no ataxia in her hand movements. She was myopic and had a broad face and high-arched palate, as well as an unusual palmar crease on 1 hand. The boy had been delivered by cesarean section at 37 weeks' gestation due to fetal distress and had apneic episodes in the neonatal period. He was hypotonic at birth and exhibited marked plagiocephaly; 2 central cysts were seen on cranial ultrasound, and agenesis of the corpus callosum was later confirmed. Examination at age 17 months showed over-folded ears, pointed chin, broad forehead, prominent supraorbital ridges, relative midface hypoplasia, and prominent nostrils. He had developed scoliosis, lordosis, and kyphosis; his genitalia were normal, but he had a hypoplastic pelvis and was very thin. He was profoundly retarded and had no speech. Neither patient exhibited blepharophimosis.
Molin et al. (2012) described the clinical features of 15 patients with deletions in the proximal long arm of chromosome 3, 1 of whom was the girl previously reported by Ogilvie et al. (1998), and also reviewed 13 previously reported patients with deletions on the proximal long arm of chromosome 3. The major characteristics in 24 patients who shared the shortest region of overlap included significant developmental delay, muscular hypotonia, high-arched palate, and recognizable facial features including short philtrum and protruding lips. Brain and central nervous system anomalies included agenesis of the corpus callosum in 5 patients, ventriculomegaly in 3, and alobar holoprosencephaly in 1. Abnormal genitalia were found in the majority of males, with several having micropenis. In addition, a postnatal growth pattern above the mean was apparent.
Cytogenetics
By G-banding of DNA from peripheral lymphocytes of 2 unrelated children with dysmorphic features and severe psychomotor retardation, Ogilvie et al. (1998) identified an apparently identical interstitial deletion, with breakpoints established at 3q12-q21. Analysis of chromosomes from both sets of parents showed normal karyotypes.
Molin et al. (2012) studied 14 novel patients with deletions of chromosome 3q11-q23 and compared them to 14 previously reported cases with deletions in the same region. Molecular investigation revealed that the deletions mapped within 3q12-q21.3 and ranged in size from 580 kb to 22.4 Mb. Most of the deletions had different breakpoints, although 4 cases had breakpoints in close proximity. The deletions were shown to be de novo in the 13 cases for which parental DNA was available. The shortest region of overlapping deletion (SRO), shared by 24 of the patients, was a 580-kb segment at 3q13.31. Molin et al. (2012) noted that of the 5 genes located in that interval, DRD3 (126451) and ZBTB20 (606025) were strong candidate genes for developmental delay.
Shuvarikov et al. (2013) reported 9 patients with recurrent 3.4-Mb de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All had hypotonia as well as language and motor delays; 8 patients had mild to moderate cognitive delays, 7 showed abnormal behavior, and 3 exhibited autism spectrum disorders. Common facial features included downslanting palpebral fissures with epicanthal folds, slightly bulbous nose, prominent lower lip, and relative macrocephaly. DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination between HERV-H elements (see 604109) as a mechanism of deletion formation.
Rasmussen et al. (2014) studied 2 patients with de novo chromosomal rearrangements at 3q13.31 causing haploinsufficiency of the ZBTB20 gene (606025). A 13-year-old Brazilian boy with developmental delay, attention deficit-hyperactivity disorder, psychosis, Tourette syndrome, and autistic traits had a balanced reciprocal translocation t(3;18)(q13.31;q22.1). The chromosome 3 breakpoint separated upstream noncoding exons and gene regulatory elements from the downstream coding exons of the ZBTB20 gene, whereas the fully balanced chromosome 18 breakpoint was located in an intergenic region. A 3-year-old Portuguese boy with developmental delay and autism had a 1.3-Mb microdeletion at 3q13.31 that truncated the ZBTB20 gene in intron 4 and encompassed the GAP43 (162060) and LSAMP (603241) genes as well. Both boys exhibited characteristic facial dysmorphic features of 3q13.31 deletion syndrome, including downslanting palpebral fissures, full lower lip, and prominent ears, but neither had genital anomalies.
INHERITANCE \- Autosomal dominant GROWTH \- Postnatal overgrowth HEAD & NECK Head \- Brachycephaly (in some patients) \- Dolichocephaly (in some patients) \- Plagiocephaly (in some patients) Face \- Prominent or broad forehead Ears \- Large ears (in some patients) \- Low-set ears (in some patients) Eyes \- Epicanthal folds \- Antimongoloid slant (in some patients) \- Hypertelorism (in some patients) \- Myopia (in some patients) \- Strabismus (in some patients) \- Ptosis (in some patients) Mouth \- Short philtrum \- Protruding lips \- High arched palate GENITOURINARY External Genitalia (Male) \- Micropenis \- Shawl scrotum Internal Genitalia (Male) \- Cryptorchidism \- Small testes MUSCLE, SOFT TISSUES \- Hypotonicity NEUROLOGIC Central Nervous System \- Hypotonicity \- Major developmental delay \- Speech delay \- Agenesis of corpus callosum (in some patients) \- Ventriculomegaly (in some patients) \- Alobar holoprosencephaly (rare) Behavioral Psychiatric Manifestations \- Autism (in some patients) \- Attention deficits (in some patients) MOLECULAR BASIS \- Contiguous gene syndrome caused by deletion (580kb-22.5Mb) of 3q13.31 ▲ 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
|
CHROMOSOME 3q13.31 DELETION SYNDROME
|
c2931338
| 27,845 |
omim
|
https://www.omim.org/entry/615433
| 2019-09-22T15:52:08 |
{"doid": ["0060418"], "mesh": ["C536808"], "omim": ["615433"], "orphanet": ["1621"]}
|
Wrinkly Skin Syndrome
SpecialtyDermatology
Symptomssagging, wrinkled skin, low skin elasticity, delayed fontanel (soft spot) closure
Causesmutations in the ATP6VOA2 gene (autosomal recessive)
Diagnostic methoddermatological assessment, genetic screening, skin biopsies, x-rays, brain MRI scans
Managementphysical therapy, developmental assessments, bone density scans
Frequency30 known cases
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanel (soft spot) closure along with a range of other symptoms.[1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events.[2] There are only about 30 known cases of WSS as of 2010.[3] Given its rarity and symptom overlap to other dermatological conditions, reaching an accurate diagnosis is difficult and requires specialized dermatological testing.[1] Limited treatment options are available but long-term prognosis is variable from patient-to-patient, on the basis of individual case studies.[1] Some skin symptoms recede with increasing age while progressive neurological advancement of the disorder causes seizures and mental deterioration later in life for some patients.[1]
## Contents
* 1 Symptoms
* 2 Complications in Diagnosis
* 3 Additional Diagnostics
* 4 Symptom Management & Prognosis
* 5 Cell Biology of WSS
* 5.1 The Importance of the ATP6V0A2 Pump
* 5.2 The Function of the Golgi Apparatus in Protein Maturation
* 5.3 Genetic Causes of WSS
* 5.4 Aberrant Golgi Functioning and Clinical Symptoms of WSS
* 6 Epidemiology
* 7 History
* 8 Additional Resources
* 9 See also
* 10 References
* 11 External links
## Symptoms[edit]
The predominant clinical symptoms of Wrinkly Skin Syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen, delayed closure of the fontanel (baby’s soft spot), and increased palmar and plantar creases in the hands and feet, respectively.[1]
Patients may experience a wide variety of symptoms (see table). The assortment of symptoms displayed and symptom severity (particularly growth and developmental delays) vary from patient to patient.[1]
Symptom[4] Additional Description[4]
Excessive Wrinkled Skin
Delayed Growth & Motor development
Cognitive Impairment
Hernias
Musculoskeletal & Connective Tissue Abnormalities Hip dislocation, loose joints, scoliosis
Broad Nasal Tip
Microcephaly Small infant head size
Short Stature Sub-average height
Low-set Ears
Smooth Philtrum Flat upper lip groove
Hypertelorism Wide-set eye
Infantile Muscular Hypotonia Low infant muscle tone
Pectus Evacatum Caved-in chest
High Myopia Severe near-sightedness
Cryptorchidism Undescended testes
Epicanthus Prominent Eye folds
Deep Plantar and Palmar Crease Deep palm and sole of feet creases
Dental Underdevelopment Small teeth, delayed eruption, high palate, cavities
Nasally Speech
Sparse Hair Reduced Hair Density
Prominent Nasolabial Fold Deep smile lines
Intrauterine Growth Retardation Very low fetal weight
Down Slanted Palpebral Fissures Downward eye slant
Osteoporosis Brittle, weak bones
Layers of the skin. Wrinkly skin syndrome affects both the papillary and reticular dermis.
Microscopic analysis of epidermal samples of a four-month year old with WSS revealed an irregular pattern of elastic fiber distribution.[5] Fewer elastic fibers are present in the papillary dermis and fragmented elastic fibers in the reticular dermis are observed.[5] Epidermal samples from the same patient subjected to electron microscopy revealed that elastin fibers display abnormally high levels of fragmentation and clumping of microfibrils, with little amorphous elastin.[5] Within collagen bundles, collagen fibrils are of irregular shape and thickness.[5] These disruptions of the patient’s connective tissue play a role in the inelasticity of the skin and wrinkling.[5]
## Complications in Diagnosis[edit]
Several symptoms are shared with cutis laxa type II (CLT2) including wrinkling of skin, microcephaly, and developmental delay which has made proper diagnosis difficult in several cases.[6] However, the severity of skin abnormalities and facial dysmorphia is greater in cutis laxa type II.[6]
## Additional Diagnostics[edit]
Accurate diagnosis of Wrinkly Skin Syndrome generally requires specialized dermatological assessment.[7] In addition to assessment of clinical physical symptoms, diagnosis may be aided by:
* x-rays to identify joint abnormalities
* ophthalmologic evaluation of hypertelorism, downslanting eyes, and myopia
* brain MRI scans to evaluate the degree of microcephaly
* genetic screening for Congenital Disorders of Glycosylation (CDG)
* skin biopsy and histological analysis
* genetic screening for mutations in the ATP6VOA2 gene[8]
The pigmentation patterns observed in skin biopsies reveal a characteristic lack of elastic fibers in the papillary dermis and clumping of elastic fibers in the reticular dermis.[7] Despite assessment of each of these diagnostic factors, a definitive diagnosis differentiating WSS from cutis laxa requires genetic testing.[3]
## Symptom Management & Prognosis[edit]
While there is no corrective cure for the disease, some symptoms can be managed therapeutically and/or monitored.[3] Therapeutic treatment options include physical therapy to improve muscular development while patient growth and osteoporosis can be monitored via developmental assessments and bone density scans, respectively.[8]
Long-term progression of this disorder varies between patients. Due to therapeutic interventions for developmental symptoms, long-term outcomes are improved by diagnosis of the disorder during childhood.[3] In some cases, dermatological symptoms subside while associated neurological symptoms may worsen with age, including frequency of seizures and mental deterioration.[1]
## Cell Biology of WSS[edit]
### The Importance of the ATP6V0A2 Pump[edit]
Vacuolar ATPases (V-ATPase) regulate the pH of the subcellular compartments found within the endosomal membrane system. V-ATPases are multiprotein complexes composed of two functional domains, a V0 domain, and a V1 domain. The V1 domain catalyzes the hydrolysis of ATP in order to power the pumping of protons through the V0 channel, which spans the lipid bilayer of endosomal compartments.[9] Vacuolar ATPases are also localized within the plasma membrane of both renal cells and osteoclasts.[9] In osteoclasts, V-ATPases are required for pumping protons onto the bone surface. The protons are then used for bone resorption. In renal cells, V-ATPases are used to pump protons into the urine. This facilitates bicarbonate reabsorption into the blood. The ATP6V0A2 gene encodes the a2 isoform of the a-subunit (present in the V0 domain).[9] The a2 subunit anchors the V-ATPase to the membrane, and it is also directly involved with proton transport.[2] ATP6V0A2 is encoded by the ATP6V0A2 gene. The ATP6V0A2 pump is found in virtually all cells and is thought to play an important role in the process of vesicular fusion in the secretory pathway, including the secretion of extracellular matrix components.[9]
### The Function of the Golgi Apparatus in Protein Maturation[edit]
The most important subcellular structure in the context of wrinkly skin syndrome (WSS), is the Golgi apparatus. The Golgi apparatus is an important part of the endomembrane system because it processes proteins and lipids prior to their delivery to the plasma membrane and/or secretion into the extracellular environment. The Golgi is organized into a polarized series of membrane-bound stacks, called cisternae, through which proteins are trafficked in sequence once they leave the endoplasmic reticulum (ER), where the proteins and lipids are synthesized. Proteins destined for secretion or delivery to the plasma membrane arrive first at the cis-Golgi, before being trafficked through the medial and trans-Golgi.[10] In the Golgi, proteins undergo extensive post-translational modifications (PTMs). In the context of WSS, the most significant PTM events are the glycosylation of proteins comprising the extracellular matrix (ECM) of epidermal cells. The two types of glycosylation events in the Golgi are N-linked glycosylation and O-linked glycosylation.[11] Glycosylation of proteins destined for secretion occurs through the forward movement of proteins throughout the Golgi apparatus. The proteins destined for secretion are then trafficked to the plasma membrane in secretory vesicles. Retrograde (backward) transport in the Golgi apparatus is also important. In order to retain the enzymes responsible for protein glycosylation in the correct regions of the Golgi, there must be retrograde transport of these enzymes back into the Golgi apparatus.[11] In addition, retrograde transport serves a quality control function, by shuttling misfolded proteins back into the ER or retaining them within the Golgi itself until proper protein folding and maturation is completed.[11] The activity of protein-modifying enzymes, like glycosyltransferases and glycosidases, relies on the lumenal pH of the Golgi apparatus.[11] Cisternal pH becomes increasingly acidic (lower pH) with progression from cis- to trans- regions of the Golgi.[11] Disruption of decreasing pH can impart significant effects on the efficiency and sequence of glycosylation events.[11] Maintenance of the pH gradient across the Golgi is instrumental for proper post-translational modification of proteins prior to secretion. Retrograde transport and pH regulation are therefore vital to the proper functioning of the Golgi apparatus.[11]
### Genetic Causes of WSS[edit]
Patients with both missense and/or nonsense mutations of the ATP6V0A2 gene have been shown to phenotypically express wrinkly skin syndrome (WSS) or autosomal recessive cutis laxa type II (ARCL II) (another cutis laxa disorder).[9] Some consider WSS to be a milder variant of ARCL II, but the genetic causes of WSS are not yet known.[9] A large number of patients with WSS and ARCL II show a loss-of-function in the a2-subunit.[2] These mutations in ATP6V0A2 are associated with defective glycan biosynthesis and defective Golgi apparatus structure.[10] However, the exact mechanism of how mutations in the ATP6V0A2 gene lead to these effects is unclear.
### Aberrant Golgi Functioning and Clinical Symptoms of WSS[edit]
WSS is characterized by defects in the elastic fiber system that comprises the extracellular matrix of epidermal cells.[9] The skin’s elastic fiber system consists of elastin (which is normally non-glycosylated) and glycosylated proteins (fibulin, fibronectin, and collagen). It is speculated that either abnormal glycosylation and/or impaired secretion of proteins caused by ATP6V0A2 dysfunction lead to WSS.[9] The ATP6V0A2 pump is highly expressed within the Golgi apparatus.[10] ATP6V0A2 is primarily found within the medial-Golgi and the trans-Golgi. ATP6V0A2 acidifies the medial- and trans-Golgi so that their resident enzymes (e.g. glycosidases and glycosyltransferases) function properly.[10] Therefore, mutations in the ATP6V0A2 gene reduce the ability of ATP6V0A2 to produce the necessary pH gradient for these glycosylation enzymes, which results in abnormal N- and O-linked glycosylation. Because the physical properties of skin rely heavily on the structural proteins of the elastic fiber system of epidermal cells, abnormal glycosylation can lead to structural defects in the elastic fibers, and therefore lead to the inelastic skin seen in WSS. WSS patients may also have defective secretion of another ECM component of the skin called tropoelastin.[12] The process of secreting tropoelastin from the cell is dependent on the acidic pH of vesicles.[12] It is thought that increased pH levels (lower acidity) lead to the premature aggregation (coacervation) of tropoelastin inside the vesicle.[12] The process of coacervation is thought to be essential for proper elastin assembly in the ECM.[12] Coacervation must occur outside of the cell within the ECM ( the ECM has a more alkaline environment than the vesicle) for proper elastic fiber assembly.[12] However, defective ATP6V0A2 pumps in the vesicle increase the lumenal pH of the vesicle, leading to premature coacervation and defective elastic fiber assembly.[12] The abnormal assembly and glycosylation of proteins used to make elastic fibers explains the connective tissue phenotypes associated with ARCL2 and WSS but does not explain the neurodevelopmental disorders or growth defects of these patients (18). Elastin is not required for brain or bone growth.[13] However, it is believed that abnormal/impaired secretion of the brain and bone-specific ECM proteins caused by dysregulation of Golgi acidification is what leads to the neural and skeletal defects in ARCL2.[12]
## Epidemiology[edit]
As of January 2020, only ~ 30 cases of Wrinkly Skin Syndrome have been reported.[14] The majority of reported cases have come from Middle Eastern regions such as Iraq, Saudi Arabia, and Oman.[15] Both males and females of Middle Eastern descent have been reported to be affected.[16] Consanguineous (marriage of first-cousins) relationships are a prevalent feature of parents with children diagnosed with WSS.[16] Such marriages and relationships are more common in Middle Eastern regions.[16] Multiple children of the same parents have also been reported to be affected by WSS.[16] There is currently insufficient epidemiological data to provide frequency of WSS occurrence in other ethnic groups.
## History[edit]
Wrinkly skin syndrome is a very rare disease that was amenable to molecular diagnosis only recently. Consequently, the history of this disease has been minimally documented. However, in 1973, “wrinkly skin syndrome” received its name because of its characterized features of exceedingly wrinkled skin in the hands and feet in Iraqui-Jewish first-cousins. In the same year, WSS was established as a new heritable disorder of connective tissue that appeared to be transmitted as an .[17] In 1993, WSS was diagnosed in a mother and her son.[17] Both patients displayed decreased elastic recoil of the skin and an increase in the number of palmar creases.[17] In 1999, there were up to 9 reported cases of WSS.[17] In 2008, Kornak et al. investigated glycosylation of serum proteins with individuals with WSS and found that they had defects in N-glycosylation at the level of the Golgi apparatus.[17]
## Additional Resources[edit]
1. NIH GARD (Genetic and Rare Diseases Information Center)
2. Monarch Initiative
3. Online Mendelian Inheritance in Man Database
## See also[edit]
* Ehlers–Danlos syndrome
* Cutis Laxa Type II
* List of cutaneous conditions
## References[edit]
1. ^ a b c d e f g "Wrinkly skin syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-04-24.
2. ^ a b c Morava, Éva; Guillard, Maïlys; Lefeber, Dirk J.; Wevers, Ron A. (September 2009). "Autosomal recessive cutis laxa syndrome revisited". European Journal of Human Genetics. 17 (9): 1099–1110. doi:10.1038/ejhg.2009.22. ISSN 1476-5438. PMC 2986595. PMID 19401719.
3. ^ a b c d "Orphanet: Wrinkly skin syndrome". www.orpha.net. Retrieved 2020-04-24.
4. ^ a b "Monarch Initiative Explorer". monarchinitiative.org. Retrieved 2020-04-24.
5. ^ a b c d e Boente, María del C.; Winik, Beatriz C.; Asial, Raúl A. (March 1999). "Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers". Pediatric Dermatology. 16 (2): 113–117. doi:10.1046/j.1525-1470.1999.00027.x. ISSN 0736-8046. PMID 10337674.
6. ^ a b Gupta, Neerja; Phadke, Shubha R. (May 2006). "Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes". Pediatric Dermatology. 23 (3): 225–230. doi:10.1111/j.1525-1470.2006.00222.x. ISSN 0736-8046. PMID 16780467.
7. ^ a b Nanda, Arti; Alsaleh, Qasem A.; Al-Sabah, Humoud; Marzouk, Emad E.; Salam, Amr M. A.; Nanda, Mousumee; Anim, Jehoram T. (January 2008). "Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature". Pediatric Dermatology. 25 (1): 66–71. doi:10.1111/j.1525-1470.2007.00586.x. ISSN 0736-8046. PMID 18304158.
8. ^ a b Kapoor, Seema; Goyal, Manisha; Singh, Ankur; Kornak, Uwe (2015). "The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity". Indian Journal of Dermatology. 60 (5): 521. doi:10.4103/0019-5154.164434. ISSN 0019-5154. PMC 4601448. PMID 26538727.
9. ^ a b c d e f g h Guillard, Mailys, et al. "Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa." Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792.9 (2009): 903-914.
10. ^ a b c d Udono, Miyako, et al. "Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells." Scientific Reports 5 (2015): 17342.
11. ^ a b c d e f g Rosnoblet, C., Peanne, R., Legrand, D. et al. Glycosylation disorders of membrane trafficking. Glycoconj J 30, 23–31 (2013). https://doi.org/10.1007/s10719-012-9389-y
12. ^ a b c d e f g Hucthagowder V, Morava E, Kornak U, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009;18(12):2149–2165. doi:10.1093/hmg/ddp148
13. ^ Hucthagowder V, Morava E, Kornak U, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion, and cell survival. Hum Mol Genet. 2009;18(12):2149–2165. doi:10.1093/hmg/ddp148
14. ^ "Orphanet: Reports". www.orpha.net. Retrieved 2020-04-24.
15. ^ "OMIM Entry - # 278250 - WRINKLY SKIN SYNDROME; WSS". omim.org. Retrieved 2020-04-24.
16. ^ a b c d Steiner, Carlos Eduardo; Cintra, Maria Letícia; Marques-de-Faria, Antonia Paula (2005). "Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review". Genetics and Molecular Biology. 28 (2): 181–190. doi:10.1590/S1415-47572005000200001. ISSN 1415-4757.
17. ^ a b c d e McKusick, V. A., & O'Neill, M. (2015, February 13). Wrinkly Skin Syndrome; WSS. Retrieved January 16, 2020, from https://omim.org/entry/278250
## External links[edit]
Classification
D
* ICD-10: M35.8
* OMIM: 278250
* MeSH: C536750
* SNOMED CT: 238875009
External resources
* Orphanet: 2834
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Wrinkly skin syndrome
|
c0406587
| 27,846 |
wikipedia
|
https://en.wikipedia.org/wiki/Wrinkly_skin_syndrome
| 2021-01-18T18:37:16 |
{"gard": ["273"], "mesh": ["C536750"], "umls": ["C0406587"], "icd-10": ["M35.8"], "orphanet": ["2834", "357058"], "wikidata": ["Q8038353"]}
|
Pyostomatitis vegetans is an inflammatory stomatitis and most often seen in association with inflammatory bowel disease, namely ulcerative colitis and Crohn's disease.[1][2] Uncommonly, it may be one of the features of orofacial granulomatosis.[3]
## See also[edit]
* Cheilitis
* Skin lesion
* List of cutaneous
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 798. ISBN 978-0-7216-2921-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 389. ISBN 978-1-4160-2999-1.
3. ^ Leão, JC; Hodgson, T; Scully, C; Porter, S (Nov 15, 2004). "Review article: orofacial granulomatosis". Alimentary Pharmacology & Therapeutics. 20 (10): 1019–27. doi:10.1111/j.1365-2036.2004.02205.x. PMID 15569103.
## External links[edit]
* Pyostomatitis vegetans associated with inflammatory bowel disease
* 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 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
|
Pyostomatitis vegetans
|
c0267000
| 27,847 |
wikipedia
|
https://en.wikipedia.org/wiki/Pyostomatitis_vegetans
| 2021-01-18T19:06:46 |
{"umls": ["C0267000"], "wikidata": ["Q7263154"]}
|
## Summary
### Clinical characteristics.
Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.
### Diagnosis/testing.
The diagnosis of FCMD is established in a proband by identification of biallelic pathogenic variants in FKTN on molecular genetic testing.
### Management.
Treatment of manifestations: Physical therapy and stretching exercises, treatment of orthopedic complications, assistance devices such as long leg braces and wheelchairs, use of noninvasive respiratory aids or tracheostomy, prompt treatment of acute respiratory tract infections, antiepileptic drugs, medical and/or surgical treatment for gastroesophageal reflux, gastrostomy tube placement when indicated to assure adequate caloric intake, cardiomyopathy treatment as per cardiologist.
Surveillance: Monitor:
* Respiratory function in individuals with advanced disease;
* For myocardial involvement by chest x-ray, ECG, and echocardiography in individuals older than age ten years;
* Gastrointestinal function, and for signs/symptoms of gastroesophageal reflux;
* For foot deformities and scoliosis.
### Genetic counseling.
FCMD is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known.
## Diagnosis
### Suggestive Findings
Fukuyama congenital muscular dystrophy should be suspected in individuals with the following clinical, imaging, laboratory, and histopathology findings.
Clinical findings
* Early-infantile onset of hypotonia and weakness with contractures of the hips, knees, and interphalangeal joints (in 100% of individuals)
* Severe motor and speech delays and intellectual disability with relative preservation of social skills (100%)
* Static course until early childhood, followed by diffuse and extensive muscle wasting (most prominent proximally) and later progressive joint contractures (100%)
* Myopathic facial appearance (100%)
* Pseudohypertrophy of the calves and forearms in late infancy (50%)
* Seizures (febrile and/or afebrile) (50%)
* Ophthalmologic abnormalities, including visual impairment in 53% and retinal abnormalities in 32% [Saito & Kobayashi 2001]. Retinal abnormality when present is mild and focal. Retinal dysplasia, a pathologic diagnosis, is based on the finding of rosettes of immature photoreceptors.
* Family history consistent with autosomal recessive inheritance
Neuroimaging findings. MRI reveals the findings of cobblestone lissencephaly comprising five major abnormalities including the following:
* Irregular or pebbled brain surface; broad gyri with a thick cortex (pachygyria) in the frontal, parietal, and temporal regions; and sometimes areas of small and irregular gyri that resemble polymicrogyria
* Dilated lateral ventricles
* White matter abnormality with hyperintensity on T2-weighted images and hypointensity on T1-weighted images [Kato et al 2000] indicative of delayed myelination [Kato et al 2006, Kato et al 2010] rather than dysmyelination
* Mild brain stem hypoplasia in some individuals
* Cerebellar polymicrogyria and cerebellar cysts (23/25 individuals [Aida et al 1994])
In addition:
* The cortex is typically no more than approximately 1 cm in thickness.
* The opercula are poorly developed, leaving an open Sylvian fissure.
Laboratory findings. Serum creatine kinase (CK) concentration:
* Age <6 years: 10-60x above normal
* Age ≥7 years: 5-20x above normal
* Bedridden individuals: normal
Histopathology. Muscle biopsy:
* Findings are characteristic of muscular dystrophy. Primary feature is interstitial fibrosis without muscle degeneration and regeneration, which distinguishes Fukuyama congenital muscular dystrophy from Duchenne muscular dystrophy [Taniguchi et al 2006].
* Immunohistochemical staining using α-dystroglycan antibody reveals selective deficiency of α-dystroglycan on the surface membrane of skeletal muscle [Hayashi et al 2001].
Note: With the development of molecular genetic testing, muscle biopsy is no longer necessary to establish the diagnosis of FCMD.
EMG findings are characteristic of muscular dystrophy.
### Establishing the Diagnosis
The diagnosis of Fukuyama congenital muscular dystrophy is established in a proband by identification of biallelic pathogenic variants in FKTN on molecular genetic testing (see Table 1 and Figure 1).
#### Figure 1.
Diagnostic algorithm for FCMD
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of FCMD is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with muscular dystrophy are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of FCMD, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. For individuals of Japanese, Korean, and/or Chinese ancestry, perform targeted analysis for the c.*4392_*4393insAB185332.1 founder variant first. If only one or no pathogenic variant is identified, perform sequence analysis of the entire gene.
Note: In persons of Korean descent, if only one or no pathogenic variant is identified, consider sequence analysis to detect the Korean founder variant c.647+2084G>T.
* A muscular dystrophy multigene panel that includes FKTN and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by muscular dystrophy, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Fukuyama Congenital Muscular Dystrophy
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 by Ethnicity Detected by Method
JapaneseNon-Japanese AsianNon-Asian
FKTNTargeted
analysisc.*4392_*4393insAB185332.198% 377% 4, 50%
c.647+2084G>A8%38%
(Korean)0%
c.139C>T7%60%
(Chinese)Rare
Sequence analysis 68% 78%100% 8
Gene-targeted deletion/duplication analysis 9RareRareRare
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
In an analysis of 107 Japanese individuals with FCMD: 80 (75%) were homozygous for the founder variant; 25 (23%) were compound heterozygous for c.*4392_*4393insAB185332.1, including nine (8%) with c.647+2084G>T and seven (7%) with c.139C>T [Kobayashi et al 2017].
4\.
In an analysis of 13 Korean individuals with FCMD: three (23%) were homozygous for the c.*4392_*4393insAB185332.1 variant; seven (54%) were compound heterozygous for c.*4392_*4393insAB185332.1, including five (38%) with c.647+2084G>T [Lim et al 2010].
5\.
Yang et al [2015]
6\.
To detect coding and noncoding pathogenic variants, sequence analysis should include methods to detect deep intronic and splicing variants, in addition to coding and flanking intronic regions. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
7\.
Sequence analysis will not identify the most common founder variant in individuals of Japanese ancestry, c.*4392_*4393insAB185332.1.
8\.
Includes identification of Ashkenazi Jewish founder variant c.1167_1168insA with a carrier frequency of 0.7% (2/299 individuals) [Chang et al 2009].
9\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
## Clinical Characteristics
### Clinical Description
Fukuyama congenital muscular dystrophy (FCMD) is characterized by dystrophic changes in the skeletal muscle and by CNS migration disturbances resulting in cerebral and cerebellar cortical dysplasia. The clinical features are hypotonia, weakness, and psychomotor retardation. Mild, typical, and severe phenotypes are recognized. The phenotypic spectrum ranges from a Walker-Warburg syndrome (WWS)-like phenotype at the severe end [Manzini et al 2008, Chang et al 2009, Yis et al 2011] to a limb-girdle muscular dystrophy-like phenotype at the mild end [Puckett et al 2009, Yis et al 2011, Fiorillo et al 2013].
Disease onset typically occurs in early infancy. Initial symptoms include poor suck, mildly weak cry, floppiness, and motor developmental delay. Symmetric generalized muscle weakness and hypotonia are present. Some infants exhibit poor weight gain.
Predominantly proximal hypotonia manifests as hyperextensibility of the shoulders and trunk. Limitation of hip extension, hip abduction, and knee extension is also observed and increases with time. "Puffy" cheeks and pseudohypertrophy of the calves and forearms are evident in late infancy. Muscles are hard with a fibrous texture. Deep tendon reflexes are diminished or absent after early infancy. Facial muscle involvement (myopathic facies) is obvious from age six to 12 months and increases with age [Osawa et al 1997]. Open mouth, prognathism, and macroglossia become more evident in childhood. Swallowing difficulty develops after age six years.
Developmental delay and speech delay occur in all individuals. IQ range is usually 30 to 60. In individuals with mild FCMD, the IQ is more than 35; in individuals with severe FCMD, the IQ is less than 30. The maximum development in an individual with typical FCMD often consists of dozens of spoken words, sitting without help, and sliding along the floor on the buttocks. Individuals with mild FCMD may achieve independent walking or standing. Individuals with severe FCMD may lack head control or the ability to sit independently.
Social development of individuals with FCMD is not as severely affected as physical and mental abilities [Saito & Kobayashi 2001]. Children with FCMD tend to be the favorites in their nursery, kindergarten, or primary school. Even severely affected individuals with FCMD show eye contact, recognize family members, and make demands through vocalizations. Autistic features are not observed.
Seizures occur in more than 60% of affected individuals [Yoshioka et al 2008]. The average ages of onset of febrile and afebrile seizures were 5.4 and 4.6 years, respectively, in individuals homozygous for the Japanese founder variant (c.*4392_*4393insAB185332.1). The average ages of onset of febrile and afebrile seizures were 3.6 and 3.7 years, respectively, in individuals who were compound heterozygous for the Japanese founder variant and an additional pathogenic variant [Yoshioka et al 2008].
Ocular abnormalities include refractive error (myopia and hypermetropia) in 40%-53% of individuals. Abnormalities of the retina are seen in 32% of those with more severe FCMD [Chijiiwa et al 1983, Tsutsumi et al 1989, Osawa et al 1997]; however, retinal dysplasia is mild and focal.
In a few individuals with severe FCMD confirmed with molecular genetic testing, severe ocular anomalies included microphthalmia, retinal detachment, retinal hypoplasia, cataracts, and glaucoma [Mishima et al 1985, Hino et al 2001, Saito & Kobayashi 2001, Manzini et al 2008, Chang et al 2009]. Of note, the characteristic ocular findings of muscle-eye-brain disease (MEBD) or WWS (e.g., anterior chamber abnormalities, glaucoma) are not present in FCMD.
Slowly progressive cardiac involvement is characteristic of FCMD. The clinical progression of cardiac dysfunction is significantly milder than Duchenne muscular dystrophy (DMD) [Yamamoto et al 2017]. Individuals who live more than ten years tend to develop fibrosis of the myocardium, as evidenced by postmortem findings [Finsterer et al 2010]. In an evaluation of left ventricular (LV) function using M-mode and Doppler echocardiography in 34 individuals with FCMD, eight of 11 individuals older than age 15 years showed decreased LV systolic function [Nakanishi et al 2006]. The brain natriuretic peptide concentration showed no correlation with age or left ventricular ejection fraction [Yamamoto et al 2017].
Swallowing dysfunction is observed in individuals with infantile FCMD (especially severe FCMD) and also in individuals older than age ten years with advanced disease. Inability to swallow leads to recurrent aspiration pneumonia and death [Hill et al 2004].
Murakami et al [2012] reported sudden exacerbation of muscle weakness with marked elevation of serum creatine kinase (CK) and urinary myoglobin levels a few days after a febrile episode of viral infection, occasionally leading to death.
Neuropathology. Examination of the brain in FCMD shows changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia caused by a defect in neuronal migration [Saito et al 2000]. These changes are similar to but typically less severe than the abnormalities described in MEBD and WWS.
Infants can show extensive areas of pachygyria over the surface of the cerebral hemispheres, a feature that is more prominent over the frontal and especially temporal lobes than the parietal and occipital lobes. A variant of polymicrogyria is frequently noted over the cortical surface of the parieto-occipital lobes (see Polymicrogyria Overview).
Cerebellar cysts, lined with the molecular layer and containing leptomeningeal tissue, were observed beneath the malformed cerebellar cortex or areas of polymicrogyria [Aida 1998]. Although distinctive enough to be diagnostic of cobblestone lissencephaly, these changes do not distinguish between FCMD and other causes of MEBD or WWS.
In juvenile and adult cases, the agyric areas are more focal and restricted to the occipital lobes. Lissencephalic or agyric areas of malformed cortex may alternate with regions of polymicrogyria, based on fusion of gyri and excessive migration of glio-mesenchymal tissue extending into the subarachnoid space.
A malformed or flat ventral surface of the medulla caused by secondary hypoplasia associated with a small basis pontis and grooves in the spinal cord has been observed [Saito & Kobayashi 2001].
In fetal cases, neurons and glia migrate through focal defects in the glia limitans, forming verrucous nodules, the initial manifestation of cortical dysplasia. Thus, the overmigration of CNS parenchyma into subarachnoid spaces is a pathologic process that is considered essential to the development of cortical dysplasia.
### Genotype-Phenotype Correlations
Kondo-Iida et al [1999] and Kobayashi et al [2017] analyzed FKTN in 107 unrelated affected individuals. Individuals homozygous for the Japanese founder variant c.*4392_*4393insAB185332.1 show a milder phenotype than do compound heterozygotes who have this pathogenic variant in combination with a pathogenic missense or nonsense variant on the other allele.
The severe phenotype, including WWS-like manifestations such as hydrocephalus and microphthalmia, was significantly more common in probands who were compound heterozygous for a single-nucleotide variant and the Japanese founder variant (c.*4392_*4393insAB185332.1) [Yoshioka 2009, Kobayashi et al 2017] than in probands who were homozygous for the founder variant.
Chang et al [2009] identified a homozygous c.1167_1168insA FKTN pathogenic variant in four individuals with features of WWS.
Godfrey et al [2006], Godfrey et al [2007], Puckett et al [2009], Yis et al [2011], and Fiorillo et al [2013] reported a milder LGMD phenotype in individuals heterozygous for a pathogenic missense variant / frameshift variant and homozygous pathogenic missense variants (see Genetically Related Disorders).
### Prevalence
FCMD is second in prevalence only to DMD among all subtypes of childhood progressive muscular dystrophy in Japan, with an incidence of 0.7-1.2 per 10,000 births. Chromosomes bearing the FKTN Japanese founder variant c.*4392_*4393insAB185332.1 are derived from a single ancestral founder, who lived 2,000-2,500 years ago. It was found in only one of 176 chromosomes in unrelated healthy individuals [Kobayashi et al 1998].
The average occurrence of heterozygous carriers identified in various regions of Japan is one in 188. However, in Korean populations, one carrier was detected in 935 individuals, and researchers were unable to detect any heterozygous pathogenic variants in 203 individuals of Mongolian ancestry and 766 individuals from mainland China [Watanabe et al 2005].
FCMD is pan ethnic, but most common in individuals of Japanese heritage.
## Differential Diagnosis
Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, a clinically and genetically heterogeneous group of inherited muscle disorders characterized by muscle weakness evident at birth or in early infancy. The main congenital muscular dystrophy (CMD) subtypes are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the alpha-dystroglycanopathies (caused by pathogenic variants in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE1, ISPD, POMGNT2, DAG1, TMEM5, B3GALNT2, POMK, B4GAT1, and GMPPB) [Godfrey et al 2007, Godfrey et al 2011, Devisme et al 2012, Lim et al 2013, Kang et al 2015, Bouchet-Séraphin et al 2016, Taniguchi-Ikeda et al 2016] (see Table 3), SELENON (formerly SEPN1)-related CMD (previously known as rigid spine syndrome, or RSMD1), and LMNA-related CMD (L-CMD).
The three major phenotypes of the alpha-dystroglycanopathies are FCMD, Walker-Warburg syndrome (WWS), and muscle-eye-brain disease (MEBD) [Taniguchi et al 2003, Voglmeir et al 2011, Carss et al 2013]. The alpha-dystroglycanopathies are characterized by congenital muscular dystrophy associated with characteristic brain malformations (cobblestone [type II] lissencephaly and cerebellar malformations), eye malformations (typically involving the retina), profound intellectual disability, and early death. FCMD is milder than WWS and MEBD, particularly with respect to brain and ophthalmologic involvement [Bouchet-Séraphin et al 2016, Taniguchi-Ikeda et al 2016] (see Table 2). The alpha-dystroglycanopathies are inherited in an autosomal recessive manner.
### Table 3.
Distinguishing Between the Major Phenotypes of the Alpha-Dystroglycanopathies: FCMD, MEBD, and WWS
View in own window
PhenotypeGene(s)Severity of FindingsBrain MRI
MDEyeIDBrain stemCerebellumCerebellar cystsHydrocephalus
Fukuyama CMDFKTNModerate to severeMildModerateUsually normal; in rare cases hypoplasticUsually normal; occasionally smallObservedRare
Muscle-eye-brain disease
(see OMIM PS236670)DAG1 1
GMPPB 2
LARGE1 3
POMGNT1 4
POMT1
POMT2MildSevere 5SevereAlmost always smallAlways smallObservedCommon
Walker-Warburg syndrome
(see OMIM PS236670)B3GALNT2 6
B4GAT1 7
CRPPA (ISPD) 8
DAG1 9
FKRP 10
FKTN
GMPPB 2
LARGE1 3
POMGNT1 4
POMGNT2 11
POMK 12
POMT1 13
POMT2 14
RXYLT1 (TMEM5) 15MildSevere 16SevereVery small & kinked at
junction of midbrain & ponsVery smallObservedAlmost universal
ID = intellectual disability; MD = muscle dystrophy
1\.
Signorino et al [2018]
2\.
Astrea et al [2018]
3\.
Meilleur et al [2014]
4\.
Fu et al [2017]
5\.
Severe congenital myopia, congenital glaucoma, pallor of the optic discs, retinal hypoplasia
6\.
Buysse et al [2013], Stevens et al [2013]
7\.
Buysse et al [2013]
8\.
Mutation of CRPPA (ISPD) causes severe WWS but is also a cause of the milder forms such as LGMD [Cirak et al 2013].
9\.
Riemersma et al [2015]
10\.
Yoshioka et al [2017]
11\.
Manzini et al [2012]
12\.
Di Costanzo et al [2014]
13\.
Kang et al 2015
14\.
Kitamura et al [2016]
15\.
Praissman et al [2016]
16\.
Microphthalmia, retinal detachment, retinal hypoplasia, anterior chamber malformation, cataracts
## Management
A consensus statement on standard of care for congenital muscular dystrophies (CMD) has been published [Wang et al 2010] (full text). Kang et al [2015] (full text) have also published an evidence-based guideline including management guidelines for individuals with CMD.
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Fukuyama congenital muscular dystrophy (FCMD), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Neurologic evaluation, including EEG and brain MRI
* Developmental assessment including assessment of motor skills, cognition, and speech
* Physical therapy evaluation of joint range of motion
* Ophthalmologic evaluation
* Feeding and swallowing assessment in individuals who lack head control or the ability to sit without support
* Assessment of caloric intake and nutritional status
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
There is no curative treatment for FCMD. Appropriate multidisciplinary management can prolong survival and improve the quality of life for individuals with FCMD.
Treatment includes the following:
* Physical therapy and stretching exercises to promote mobility and prevent contractures
* When scoliosis is present, spinal fusion to preserve breathing function and improve sitting balance [Takaso et al 2010, Hino et al 2017, Saito et al 2017]
* Use of mechanical assistance such as long leg braces to maintain standing posture and wheelchairs to help mobility
* Use of respiratory aids such as nasal intermittent positive pressure ventilator when indicated [Sato et al 2016]
Note: Noninvasive ventilation is offered, particularly at night, before respiratory distress becomes acute.
* Prompt treatment of acute respiratory tract infections; particularly important, as these infections are the most common cause of hospital admissions and death in people with FCMD
* Antiepileptic drugs when indicated
* Medical and/or surgical treatment for gastroesophageal reflux when indicated
* Gastrostomy tube placement when indicated to assure adequate caloric intake
* Cardiomyopathy treatment as per cardiologist
### Surveillance
The following surveillance based on evidence-based guidelines [Kang et al 2015] is intended to promote growth and potential development, mitigate comorbidities, optimize function, and limit mortality while maximizing quality of life:
* Clinical evaluation of individuals with seizures at least every three months and EEG every six months
* Monitoring of respiratory function in individuals with advanced FCMD who are older than age ten years. Those who survive beyond age 20 years may require tracheostomy or noninvasive respiratory support.
* Monitoring of myocardial involvement by chest x-ray, ECG, and echocardiography in individuals older than age ten years
* Observation/evaluation of gastrointestinal function by a qualified specialist, using a video-fluoroscopic swallow assessment, upper-gastrointestinal tract image, and pH monitor for gastroesophageal reflux
* Monitoring for foot deformities and scoliosis
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Antisense oligonucleotide therapy. Taniguchi-Ikeda et al [2011] reported that introduction of targeted antisense oligonucleotides in cell cultures of individuals with FCMD and in model mice rescued normal fukutin mRNA expression and protein production. Their work has demonstrated the promise of splicing modulation therapy as a radical clinical treatment for FCMD.
Supplementation therapy. Kanagawa et al [2016] reported that ribitol 5-phosphate is a functional glycan unit in mammals and that defects in its post-translational modification pathway are a cause of ISPD-, FKRP-, and FKTN-alpha-dystroglycanopathies. Since ISPD deficiency leads to a loss of or severe reduction in cellular CDP-ribitol, the supplementation of CDP-ribitol may be effective in treating FCMD. Gerin et al [2016] showed that ribitol supplementation to fibroblasts from individuals with ISPD pathogenic variants leads to a partial rescue of alpha-dystroglycan glycosylation.
Gene therapy. The effectiveness of recombinant adeno-associated virus serotype 9-mediated fukutin- and FKRP-gene delivery has been demonstrated using FCMD and LGMD model mice, respectively [Kanagawa et al 2013, Xu et al 2013]. Earlier intervention would be highly preferred [Vannoy et al 2017].
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Fukuyama Congenital Muscular Dystrophy
|
c0410174
| 27,848 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1206/
| 2021-01-18T21:25:02 |
{"mesh": ["D058494"], "synonyms": ["FCMD"]}
|
Protest in Colombia, pro abortion.
Prior to 2006, abortion in Colombia was illegal without exceptions. Therapeutic abortion to save a mother's life was permitted between 1837 and 1936.[1] As of 2020, abortion isn't a crime when it occurs under these three exceptions: (a) the continuation of the pregnancy constitutes a danger to the life or health of the mother; (b) The existence of life-threatening fetal malformations; and (c) The pregnancy is the result of rape, non-consensual artificial insemination or incest.
## Contents
* 1 History
* 1.1 Sentence C-133 of 1994
* 1.2 Legal situation prior to 2006
* 1.3 Legislation (2015 - current)
* 2 Martha Sulay González's case
* 3 Court challenges
* 4 Sentence C-355 of 2006
* 5 Current legal situation
* 5.1 Rape, incest and artificial insemination without consent
* 5.2 Maternal life or health
* 5.3 Fetal malformations
* 5.4 Conscientious objection
* 5.5 Other circumstances
* 6 Barriers and obstacles to abortion
* 7 Statistics
* 8 Supreme court decision on a lawsuit
* 9 References
* 10 See also
## History[edit]
The 1837 and 1936 penal legislation authorized therapeutic abortion while banning all other forms of abortion, regardless of whether the abortion consented or not. The 1890 Penal Code, in article 640, allowed for abortion when it was absolutely necessary to save the mother's life, but stated that the law did not recommend such means, which were "generally condemned" by the Catholic Church, the official religion at the time.[1] In all other cases, a third party who attempted to abort a fetus without the woman's consent faced three to six years' imprisonment (five to ten years if the abortion was successful) or one to three years imprisonment if the woman consented (four to eight years if the abortion was successful).[2] If a medical professional, midwife, or apothecary was found guilty of the above crimes, the sentence would be increased by six months to a year. The law also provided for reduced sentences, of 3–6 months (5–10 months if the abortion was successful), in the case of "honest women of good reputation" who received an abortion to "conceal their frailty" (aborto honoris causa).[1]
A very conservative 1922 law to reform the penal code would have eliminated therapeutic abortion and punished women who sought an abortion but maintained the aborto honoris causa, but the law never entered into force. The aborto honoris causa, a legal concept inherited from Spain and Italy, was based on the opinion that a single mother had lost her honour.[2] The 1936 Penal Code differentiated between consented abortion (one to four years imprisonment for the woman and practitioner) and abortion not consented to (one to six years for the practitioner), maintaining provisions for a reduced sentence (reduced by a half to two thirds) or full pardon for an abortion to save one's honour or that of the mother, sister, woman, her descendants, or adopted girl.[1][2]
The 1980 Penal Code, in articles 343 to 345, removed the aborto honoris causa and adopted penalties and attenuating circumstances which would be largely retained by the current penal code, adopted in 2000.
Decree 100 of 1980. (Penal Code)
"ARTICLE 343. ABORTION. The woman who causes her abortion or allows another to cause it, shall be in prison for one to three years.
The same sanction shall be subject to who, with the consent of the woman, performs the act provided for in the preceding paragraph. "
### Sentence C-133 of 1994[edit]
The constitutionality of Article 343 of the 1980 Penal Code was challenged to the Constitutional Court in 1994, which ruled in favour of the article criminalizing abortion in sentence C-133 of March 17, 1994. The majority opinion of the court contended the 1991 Constitution, which recognizes life as a fundamental right (in article 11) and cites it as one of the founding principles in the constitutional preamble and article 2, recognized the "primacy and inviolability of life", excluding any possibility for abortion and allowing the legislator to penalize such acts. Furthermore, it opined that "the life of the unborn embodies a fundamental value, for the hope of its existence as a person, and its apparent helplessness requires special attention from the State."[3] Thus, Colombia's abortion legislation was constitutional under the State's obligation to protect the life of "all persons", which, at the time, the Court claimed "obviously" protected life during its formation and development given that these stages were condition for the viability of birth, the origin of the legal existence of a person.[3] In addition, the Court said, if the Constitution gives couples the right to decide their number of children, this right could only be exercised prior to conception since conception creates a being which is existentially distinct from the mother.[3]
### Legal situation prior to 2006[edit]
Abortion was legally regulated by articles 122 through 124 of the Colombian Penal Code (law 599 of 2000). Article 122 of the Penal Code punished women who self-induced or consented to someone else inducing her abortion to imprisonment for a period of one to three years, increased to a term of 16 to 54 months by law 890 of 2004.[4] Article 123 punished those who practised an abortion without the woman's consent or on a girl under fourteen years of age to a period of imprisonment of 4 to 10 years, increased to 64 to 180 months by the 2004 law. Article 124, finally, allowed for attenuating circumstances: the prescribed penalty for abortion would be reduced by three quarters when the pregnancy was the result of rape or non-consensual artificial insemination.[4]
### Legislation (2015 - current)[edit]
In November 2015, Attorney General Eduardo Montealegre announced that he would send a bill to Congress legalizing abortion on request in the first 12 weeks of pregnancy. The Minister of Health, Alejandro Gaviria, supports legalizing abortion but said that Montealegre's bill was not the most suitable mechanism to do so, claiming instead that the obstacles are not legal but rather disinformation and cultural factors.[5][6]
On March 14, 2020 the Colombian Constitutional Court issued a decision regarding a claim received against the current law which requested a complete ban on abortions. The claim argued that abortion was unconstitutional and limited the rights of the unborn.[7][8] The Court ruled against banning all abortions, upholding the current requirements for the procedure.[9][10]
## Martha Sulay González's case[edit]
In 2006, the case of Pereira woman Martha Sulay González brought national attention to the issue of abortion in the country. Martha Sulay, already a mother of three, was diagnosed with cervical cancer while pregnant with her fourth child in 2004 (despite prior tubal ligation).[11] Her requests for chemotherapy and radiotherapy were denied, as they would entail the termination of her pregnancy, which was illegal. Her doctors said that they decided to continue her pregnancy because, although medical literature indicated that in such cases the pregnancy should be ignored and radiotherapy started, therapeutic abortion is illegal in Colombia and they would be committing a crime. Her cancer metastasized in 2006.[12][13] However, experts in medical law argued that an abortion in her case would not have been penalized, as one would not be seeking the death of the fetus but rather to save the mother's life.[11]
## Court challenges[edit]
Martha Sulay González, supported by local and national groups, continued to demand the decriminalization of abortion in Colombia. Beginning in April 2005, several lawyers, led by Mónica Roa of the Women's Link Worldwide NGO, challenged the constitutionality of the abortion-related articles of the Penal Code to the Constitutional Court. The court consolidated three separate challenges into a single case.[13] Mónica Roa's brief claimed that the ban on abortion violated a woman's constitutional right to the free development of her personality (libre desarrollo de la personalidad) and autonomy, because the State was preventing her from deciding freely on issues which pertained solely to her. She further suggested that the legislation was disproportional, violated a woman's right to equality (by criminalizing a medical practice only needed by women, while the denial of an abortion was a clear example of discrimination against women violating their constitutional rights to health and life).[1] Besides article 122 of the Penal Code, Roa also challenged the phrase in article 123 which subjected those who practised abortions on minors under fourteen to a higher prison sentence, as she said it violated a young girl's constitutionally-recognized autonomy.[1] Finally, Roa challenged the entirety of article 124, because merely initiating criminal proceedings for an abortion in the face of sexual violence was violation of a woman's dignity, freedom and autonomy.[1]
Supporting her arguments, Roa also argued that clandestine abortions threatened a woman's life and cited several opinions from international organizations and international human rights instruments (which are of constitutional value and legally binding in Colombian constitutional law).[1] Other constitutional arguments presented in favour of decriminalization included the secularism of the State, gender equality, human dignity, the right to intimacy and the freedom of conscience.[1]
Religious opposition to abortion was particularly intense during the court challenge, particularly from the Catholic Church and Opus Dei, as well their allies in Congress.[13] During the 2006 presidential campaign, incumbent President Álvaro Uribe said that he opposed abortion, but most of his rivals, including eventual second-place finisher Carlos Gaviria, a former Constitutional Court magistrate, supported abortion rights and the legal challenge to the Penal Code.[13]
The Colombian Institute of Family Welfare (ICBF) opposed abortion as a family planning measure, but gave a favourable opinion to the decriminalization of abortion in certain cases.[1] In its intervention before the Court, the Ombudsman (Defensor del Pueblo), an autonomous constitutional control organization, supported the legal challenge against the ban on abortion. Like other contributors, the Ombudsman claimed that the law was based on a retrograde view of women as "merely biological", ignoring modern constitutional provisions for gender equality.[1] The Ministry of Social Protection primarily mentioned the public health risks associated with clandestine abortions to support its opinion that restrictive laws like those in Colombia were not efficient in any way in reducing unwanted pregnancies.
The Episcopal Conference of Colombia opposed the decriminalization of abortion, arguing that the impugned articles of the Penal Code protected the life, health and integrity of the unborn but also of the mother. The Magisterium assailed modern notions of liberty where people take as their sole and indisputable reference for their own choices, "not the truth about good and evil, but only their subjective and changeable opinion or even their selfish and whimsical interest", leading to the loss of any reference to common values and to a state where everything is negotiable, "even the first of the fundamental rights, the right to life."[1] The Episcopal Conference argued that the "original and inalienable right to life" could not be subject to political debate, and stated that to "claim the right to abortion, to infanticide [...], means attributing to human freedom a perverse and evil significance: absolute power over and against others."[1] Notably, opponents of the challenge to the law brought attention to the American Convention on Human Rights, which states in article 4.1 that "Every person has the right to have his life respected. This right shall be protected by law and, in general, from the moment of conception." In addition to this formal intervention, the Constitutional Court received a written contribution signed by all the Archbishops in Colombia, including Pedro Rubiano Saénz, Archbishop of Bogotá, urging the Court to rule the articles constitutional.[1]
The Inspector General of Colombia, Edgardo Maya Villazón, asked the Court to decriminalize abortion in the cases of maternal health, life-threatening foetal defects and conception without the woman's consent (in legal terms, ruling article 122 conditionally constitutional). Constitutionally, the Inspector General held that the right to life must be balanced with and interpreted alongside the principle of human dignity.[1] The Inspector General concluded that criminalizing abortion in the aforementioned cases constituted an unreasonable and disproportionate sanction, interfering with a woman's fundamental rights.
## Sentence C-355 of 2006[edit]
On May 10, 2006, the Constitutional Court reached a 5-3 decision which partially decriminalized abortion in Colombia under certain circumstances.
The majority opinion examined several constitutional and legal issues pertaining to life and fundamental rights, including:[1][8]
* Life and the right to live: The Court held that the Colombian Constitution not only protected the right to life but also recognized life as a value, which implied a duty for the State to protect life. However, if the legislators are allowed to adopt appropriate measures to comply with this duty, this does not mean that all measures adopted in this sense are necessarily justified, because life does not have the character of an absolute value or right and must be weighted with other constitutional values, principles and rights. The right to life (article 11 of the Constitution) is limited to human beings, while the protection of life as a value extends to the unborn.[1]
* Life in International human rights law: The Court considered the protection of the right to life in several international human rights treaties which hold constitutional status in Colombia as part of the 'constitutional bloc'. The International Covenant on Civil and Political Rights and the Convention on the Rights of the Child explicitly state that the right to life is held by the human person.[1] The aforementioned American Convention on Human Rights states that the right to life must be protected by life, "in general" from the moment of conception; but the Court held that this was not of an absolute nature, notably because the terms "in general" contemplates possibilities in which the law does not protect life from the moment of conception.[7]
* Women's rights in the Colombian Constitution and international law: Gender equality and women's rights were constitutionally recognized in 1991, while international human rights conventions and legal instruments have protected women's reproductive rights and recognized violence against women as one of the most serious crimes.
* Limits to the legislator's powers in criminal matters: While the Colombian legislator enjoys a wide margin of freedom in determining criminal law, this power is not unlimited. Criminal legislation must respect fundamental rights, constitutional principles and the legal principles of proportionality and reasonableness. Some of the constitutional limits to the legislator's power to legislate include human dignity (which, for women, includes the right to freely determine her life), the free development of personality (libre desarrollo de la personalidad, individual autonomy) the right to health (which, for women, includes reproductive health) and international law.
Concretely, the Court ruled that the total ban on abortion in Article 122 of the Penal Code was unconstitutional. While the life of the unborn is protected by the constitutional order, the Court considered that the legislator is not obligated to adopt criminal laws to protect the life of the unborn, although it also stated that such measures were not disproportionate. However, a complete ban on abortion meant the complete dominance of one legal interest (the life of the unborn) over all others, specifically the fundamental rights of the mother.[1] The Colombian Constitution, in the Court's opinion, is characterized by the coexistence of several values, principles and rights - none of which have an absolute value against the others. Therefore, the ban on abortion was therefore unconstitutional, as it completely ignored the dignity of the mother and reduced her to "a mere receptacle of unborn life, lacking rights or constitutionally relevant interests meriting protection."[1] Article 124, which imposed a reduced sentence on the mother in cases of rape, was also ruled to be unconstitutional because it was disproportionate. As a result, the Court ruled that abortion should be permitted in cases where the pregnancy is the result of rape, artificial insemination without consent, incest, if the pregnancy threatens the life and health (physical and mental) of the woman and in cases of foetal malformations rendering the fetus inviable.[1]
The Court also struck down the phrase "or in women younger than fourteen" in Article 123, which subjected those who practised an abortion on a woman younger than fourteen to a longer jail sentence. Prior constitutional jurisprudence had recognized that minors had the right, depending on their maturity, to consent to medical interventions or treatments.[1]
The Court concluded by stating that it had limited itself to noting the three 'extreme scenarios' which violated the Constitution, and that nothing prevents the legislator from decriminalizing abortion in other circumstances.[1]
## Current legal situation[edit]
To date, the Congress has not amended the Penal Code to take into account the Constitutional Court's C-355/06 ruling. Therefore, abortion in Colombia is currently permitted in the three instances which were decriminalized by sentence C-355/06.[1]
### Rape, incest and artificial insemination without consent[edit]
Abortion is permitted when the pregnancy is the result of rape, abusive sexual intercourse without consent, incest and artificial insemination or transfer of a fertilized ovum without consent. It is necessary that, in such circumstances, the offence has been duly reported to the appropriate authorities. Sentence C-355/06 explicitly barred legislators from adopting regulatory measures which would establish disproportionate burdens on women's rights, such as demanding forensic evidence of sexual penetration.[7]
### Maternal life or health[edit]
Abortion is legal in cases where the continuation of the pregnancy constitutes a danger to the mother's physical or mental health or life, subject to medical certification. The Court did not establish specific cases which would constitute threats to a mother's health or life, instead leaving such tasks to medical professionals.[7]
### Fetal malformations[edit]
Abortion is legal in cases where medically certified serious fetal malformations mean that the newborn would probably not survive. The Court did not establish specific malformations, leaving such tasks to medical professionals.[6]
### Conscientious objection[edit]
In sentence C-355/06, the Constitutional Court reiterated that juridical persons do not have the right to conscientious objection, a right only recognized to natural persons. Therefore, no clinic, hospital or other health centre may refuse to practise abortions based on conscientious objections in the aforementioned cases.[7] A doctor who refuses to practise an abortion must nevertheless refer the woman to another doctor who may perform the abortion. In another court ruling, T-209 of 2008, the Constitutional Court emphasized that a conscientious objection can only be based on religious convictions and not personal opinions.
### Other circumstances[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (May 2020) (Learn how and when to remove this template message)
In the absence of any change to the law, an abortion in any other circumstance remains illegal and punishable by 16 to 54 months imprisonment for both the woman and the person who performed the abortion.
## Barriers and obstacles to abortion[edit]
Despite the decriminalization of abortion in several women's groups and the Constitutional Court have identified a number of barriers imposed on women seeking a legal abortion. These include requests for additional requirements to those set forth by sentence C-355/06, unfounded conscientious objections and medical boards unjustifiably delaying the procedure by more than 5 days (the limit estimated by the Court to respond to a woman's request).[14]
In October 2009, the Constitutional Court heard the case of a woman who was diagnosed with a severe fetal malformation that was incompatible with life, but her healthcare provider would only authorize an abortion if a judge granted a judicial order to do so (a condition not required under the law), which the judge did not grant because of conscientious objections.[7] The court's ruling reiterated that neither institutions nor judicial authorities can refuse a woman an abortion based on conscience claims, and stated that, under the circumstances where an abortion is legal, women "enjoy a right to decide, free from any pressure, coercion, urging, manipulation and, in general, any sort of inadmissible intervention, to terminate a pregnancy … it is forbidden to raise any obstacles, requirements or additional barriers."[15]
## Statistics[edit]
In October 2013, the Guttmacher Institute reported an estimated 400,400 induced abortions were performed in Colombia in 2008, of which only 322 were reported as legal procedures.[16] These numbers are much higher than the official statistics reported by the Ministry of Health, which indicated that 15,000 abortions were performed in Colombia between 2009 and 2012. In Bogotá, according to the District Department of Health, there were 16,947 legal abortions carried out in the city between 2006 and 2013.[17] The most commonly cited reasons for legal abortion procedures in Bogotá were mental health (52.8%) and physical health (27.8%).
According to the Prosecutor's Office, 2,290 women were criminalized for abortion between 2005 and 2017. Of these, 502 are minors and in addition to the three girls aged 11 and 12, there are 499 between the ages of 14 and 18 who have had to answer to justice. Approximately 25.2% of women penalized for abortion in Colombia are minors.[16]
## Supreme court decision on a lawsuit[edit]
On March 2, the Constitutional Court of Colombia declared itself inhibited and incompetent to issue a ruling regarding a lawsuit against the current decree that authorizes abortion only in three specific cases and that the lives of the mother and baby are endangered. The lawsuit asked to allow abortion without restrictions. The court said it did not have enough arguments to issue the Judgment.[8]
## 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 Sentencia C-355/06 (Constitutional Court 10 May 2006).
2. ^ a b c Molina Betancur, Carlos Mario (2006). El derecho al aborto en Colombia. I Parte: El concepto jurídico de vida humana. Medellín: Universidad de Medellín. pp. 121–127. ISBN 9789589794401. Retrieved 7 January 2016.
3. ^ a b c Sentencia C-133/94 (Constitutional Court 17 March 1994).
4. ^ a b "Ley por la cual se expide el Código Penal". Article 122-124, Law No. 599 of 2000 (in Spanish).
5. ^ "Del caso Carolina Sabino a la despenalización del aborto". Semana. 10 November 2015. Retrieved 14 January 2016.
6. ^ a b "Fiscalía propone despenalizar el aborto durante las 12 primeras semanas de gestación". Fiscalía General de la Nación. Retrieved 14 January 2016.
7. ^ a b c d e f "Corte Constitucional Colombiana SENTENCIA C-355 DE 2006" (PDF). Alcaldia Mayor de Bogota.
8. ^ a b c "COMUNICADO NO. 11" (PDF). CORTE CONSTITUCIONAL DE COLOMBIA. CORTE CONSTITUCIONAL DE COLOMBIA.
9. ^ Turkewitz, Julie (2020-03-02). "Colombia Court Keeps Restrictive Abortion Law in Place". The New York Times. ISSN 0362-4331. Retrieved 2020-04-16.
10. ^ "Colombia's Constitutional Court rules against legalizing abortion in first 16 weeks of pregnancy". Reuters. 2020-03-03. Retrieved 2020-04-16.
11. ^ a b "Martha Sulay abre debate sobre aborto". El Tiempo. 28 March 2006. Retrieved 6 January 2016.
12. ^ Árias, Luis Francisco (26 March 2006). "No pudo abortar aunque tenía cáncer y ahora ya no tiene cura". El Tiempo. Retrieved 6 January 2016.
13. ^ a b c d Guerrero, Yolanda (1 June 2006). "Colombia, historia de una lucha por la despenalización del aborto". El País. Retrieved 6 January 2016.
14. ^ Determinantes del aborto inseguro y barreras de acceso para la atención de la interrupción voluntaria del embarazo en mujeres colombianas (PDF). Bogotá: Ministerio de Salud y Protección Social and Fondo de Población de las Naciones Unidas (UNFPA). 2014. ISBN 978-958-873-575-7. Archived from the original (PDF) on 2016-08-12. Retrieved 2016-01-14.
15. ^ "Center Praises Momentous Decision in Abortion Case in Colombia". Center for Reproductive Rights. 27 October 2009. Retrieved 14 January 2016.
16. ^ a b "Unintended Pregnancy and Induced Abortion in Colombia". Guttmacher Institute. Retrieved 14 January 2016.
17. ^ Sarralde Duque, Milena (12 July 2015). "A 9 años de histórico fallo, siguen las trabas para el aborto legal". El Tiempo. Retrieved 14 January 2016.
## See also[edit]
* Abortion
* Abortion by country
* Abortion law
* v
* t
* e
Abortion in South America
Sovereign states
* Argentina
* Bolivia
* Brazil
* Chile
* Colombia
* Ecuador
* Guyana
* Paraguay
* Peru
* Suriname
* Uruguay
* Venezuela
Dependencies and
other territories
* Falkland Islands
* French Guiana
* South Georgia and the South Sandwich Islands
* v
* t
* e
Abortion
Main topics
* Definitions
* History
* Methods
* Abortion debate
* Philosophical aspects
* Abortion law
Movements
* Abortion-rights movements
* Anti-abortion movements
Issues
* Abortion and mental health
* Beginning of human personhood
* Beginning of pregnancy controversy
* Abortion-breast cancer hypothesis
* Anti-abortion violence
* Abortion under communism
* Birth control
* Crisis pregnancy center
* Ethical aspects of abortion
* Eugenics
* Fetal rights
* Forced abortion
* Genetics and abortion
* Late-term abortion
* Legalized abortion and crime effect
* Libertarian perspectives on abortion
* Limit of viability
* Malthusianism
* Men's rights
* Minors and abortion
* Natalism
* One-child policy
* Paternal rights and abortion
* Prenatal development
* Reproductive rights
* Self-induced abortion
* Sex-selective abortion
* Sidewalk counseling
* Societal attitudes towards abortion
* Socialism
* Toxic abortion
* Unsafe abortion
* Women's rights
By country
Africa
* Algeria
* Angola
* Benin
* Botswana
* Burkina Faso
* Burundi
* Cameroon
* Cape Verde
* Central African Republic
* Chad
* Egypt
* Ghana
* Kenya
* Namibia
* Nigeria
* South Africa
* Uganda
* Zimbabwe
Asia
* Afghanistan
* Armenia
* Azerbaijan
* Bahrain
* Bangladesh
* Bhutan
* Brunei
* Cambodia
* China
* Cyprus
* East Timor
* Georgia
* India
* Iran
* Israel
* Japan
* Kazakhstan
* South Korea
* Malaysia
* Nepal
* Northern Cyprus
* Philippines
* Qatar
* Saudi Arabia
* Singapore
* Turkey
* United Arab Emirates
* Vietnam
* Yemen
Europe
* Albania
* Andorra
* Austria
* Belarus
* Belgium
* Bosnia and Herzegovina
* Bulgaria
* Croatia
* Czech Republic
* Denmark
* Estonia
* Finland
* France
* Germany
* Greece
* Hungary
* Iceland
* Ireland
* Italy
* Kazakhstan
* Latvia
* Liechtenstein
* Lithuania
* Luxembourg
* Malta
* Moldova
* Monaco
* Montenegro
* Netherlands
* North Macedonia
* Norway
* Poland
* Portugal
* Romania
* Russia
* San Marino
* Serbia
* Slovakia
* Slovenia
* Spain
* Sweden
* Switzerland
* Ukraine
* United Kingdom
North America
* Belize
* Canada
* Costa Rica
* Cuba
* Dominican Republic
* El Salvador
* Guatemala
* Mexico
* Nicaragua
* Panama
* Trinidad and Tobago
* United States
Oceania
* Australia
* Micronesia
* Fiji
* Kiribati
* Marshall Islands
* New Zealand
* Papua New Guinea
* Samoa
* Solomon Islands
* Tonga
* Tuvalu
* Vanuatu
South America
* Argentina
* Bolivia
* Brazil
* Chile
* Colombia
* Ecuador
* Guyana
* Paraguay
* Peru
* Suriname
* Uruguay
* Venezuela
Law
* Case law
* Constitutional law
* History of abortion law
* Laws by country
* Buffer zones
* Conscientious objection
* Fetal protection
* Heartbeat bills
* Informed consent
* Late-term restrictions
* Parental involvement
* Spousal consent
Methods
* Vacuum aspiration
* Dilation and evacuation
* Dilation and curettage
* Intact D&X
* Hysterotomy
* Instillation
* Menstrual extraction
* Abortifacient drugs
* Methotrexate
* Mifepristone
* Misoprostol
* Oxytocin
* Self-induced abortion
* Unsafe abortion
Religion
* Buddhism
* Christianity
* Catholicism
* Hinduism
* Islam
* Judaism
* Scientology
* 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
|
Abortion in Colombia
|
None
| 27,849 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Colombia
| 2021-01-18T18:57:15 |
{"wikidata": ["Q4668450"]}
|
Autophagic Vacuolar Myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy.[1] The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic vacuoles. [2] There are currently five types of AVM identified.[1] The signs and symptoms become more severe over the course of the infection. It begins with an inability to pick up small objects and progresses to difficulty in walking.[3] The age of onset varies from early childhood to late adulthood, affecting people of all ages.[4]
The disorders are caused by a mutation in different parts of the chromosome: Danon disease is caused by a mutation of the LAMP2 gene; XMEA is caused by mutations of the VMA21 gene.[5] These gene mutations slow down the fusion between autophagic vacuoles and lysosomes, leading to the accumulation of autophagic vacuoles.[5] The end result is the breakdown of muscle cells, which attributes to muscle weakness in patients suffering from AVM.[5] The mode of transmission is X-linked, with Danon Disease being X-linked dominant and XMEA being X-linked recessive.[6] Other types of AVM are less researched in terms of their mode of transmission, but it is known that these diseases are all gene-related.[6]
Diagnosis of AVM involves various types of genetic testing, alongside a thorough examination of the patient's history and symptoms.[1] Treatment of the disease currently involves Enzyme Replacement Therapy and gene therapy is a possibility for the future, a solution which may cure the disease completely.[7]
## Contents
* 1 Categories and Causes
* 2 Mode of Transmission
* 3 Signs and Symptoms
* 4 Diagnosis
* 5 Treatment
* 5.1 Enzyme Replacement Therapy (ERT)
* 5.2 Gene Therapy
* 6 Reference
## Categories and Causes[edit]
There are five types of AVM: Danon disease, X-linked myopathy with excessive autophagy (XMEA), Pompe Disease, infantile AVM, and adult onset AVM with multiorgan involvement.[8]
Danon disease, XMEA and Pompe Disease are better researched in terms of the gene causing the disorder. XMEA is linked to mutations in the VMA21 gene at Xq28 while Danon disease and Pompe Disease are associated with LAMP2 gene located on the X chromosome and the GAA gene respectively.[5] For infantile AVM and adult onset AVM with multiorgan involvement, the LAMP2 gene is unrelated to the two diseases, though the specific genes related are unknown. [9]
The causes of the disease is different mutation occurring in the aforementioned genes. For Danon disease which is related to LAMP2, since the LAMP2 gene is responsible for the production of the LAMP-2 protein, which plays a role in the transport of cellular materials into the lysosome, mutations of the LAMP2 gene lead to little to no LAMP-2 protein production, impairing the transport of cellular materials into the lysosome. [5]Without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs much slower, leading to the accumulation of autophagic vacuoles.[5] This accumulation leads to the breakdown of muscle cells, thereby causing the muscle weakness exhibited in Danon disease patients.[5]
## Mode of Transmission[edit]
Most of the AVMs are sex-linked, meaning the gene with regards to AVM is located on a sex chromosome.[10] Danon disease is hereditary and is inherited in an X-linked dominant pattern. [11]The LAMP2 gene associated with Danon disease is located on the X-chromosome.[5] Since the X-chromosome is one of the two sex chromosomes, females may develop the disease with just one mutation in one of their two copies of the X-chromosome.[12] Since there is only one X-chromosome present in humans, a mutation in that particular X chromosome could already cause the disease. [12]Therefore, males typically exhibit more severe symptoms than females. Because Danon disease is X-linked, this means that fathers cannot pass their X-linked traits to their sons because males always pass their Y-chromosome to their male offsprings.[11]
Though also X-linked, the transmission pattern of XMEA is of a X-linked recessive pattern.[12] Since females have two X-chromosomes, this means that females may be carriers who are asymptomatic or only showing mild symptoms.[12] Meanwhile, males become diseased if they inherit just one X-chromosome that contains the mutated VMA21 gene.[12] Similar to Danon disease, males with XMEA cannot pass the mutated gene to their sons, but will pass the gene to their daughters, who will be carriers.[12] Female carriers have a subsequent 25% chance of having a carrier daughter, a 25% chance to have a non-carrier daughter, a 25% chance to have a diseased son, and a 25% son to have a healthy son.[11]
## Signs and Symptoms[edit]
Comparison of a normal heart (left) and a heart with dilated cardiomyopathy (right)
In general, the signs and symptoms of AVM are similar to common neuromuscular disorders,[13] including limb-girdle weakness, scapuloperoneal dystrophy, distal myopathy and cardiomyopathy.[14] Both muscles of upper and lower extremity would be affected.[3] The symptoms are progressive. Patients might start off having difficulty in buttoning their clothes and picking up tiny objects.[3] As it progresses to a more severe stage, they would have difficulty walking and rising up from the chair.[15] Peripheral neuropathy is exhibited in approximately 20% of patients, and cardiomyopathy affects 15-30% of AVM patients. The age of onset typically ranges from early childhood to late adulthood.[15]
In addition, patients of Danon disease also experience cardiomyopathy, arrhythmia, and skeletal myopathy.[15] Men may also suffer from varying degrees of intellectual disability with additional symptoms being retinal, liver and pulmonary disease.[15] Carrier females may exhibit these symptoms as well. [15]
Patients suffering from Pompe disease exhibit a similar set of symptoms, ranging from progressive debilitation, to organ failure and death, of which the severity depends on age of onset, organ involvement, and rate of progression.[16] The onset of Pompe disease varies from infantile, late-infantile, childhood, juvenile, and adult-onset, though Pompe disease is broadly classified into just infant and late-onset.[16] Specifically, for patients suffering from the progressive form of infantile-onset Pompe disease (IOPD), their symptoms eventually result in their deaths due to cardiorespiratory failure as soon as their first year of developing the disease.[17]
XMEA exhibits a similar set of symptoms as other AVMs, though the age of onset is predominantly during childhood. [18]
## Diagnosis[edit]
Diagnosis for genetic or rare diseases are often challenging. As such, diagnosis includes a combination of genetic testing, followed by a thorough examination of a person’s medical history, symptoms, a physical exam, and laboratory tests.[4] In addition, a diagnosis may also include a biopsy of the affected muscle tissue.[1]
For example, the diagnosis of Pompe disease presents a serious diagnostic dilemma as a result of the rarity and nonspecific phenotypic features of Pompe disease.[17] In other words, the overlapping signs and symptoms that Pompe disease shares with other neuromuscular diseases, such as muscle weakness and even cardiovascular diseases, create significant challenges for diagnosis.[16] Muscle biopsy is often used as an early diagnostic tool in the diagnosis of all muscular diseases.[19] However, it has been discovered that the use of muscle biopsies alone tends to result in false-negative results and subsequent delays in identifying and treating Pompe disease.[19] Therefore, a combination of several tests is typically used in conjunction to confirm whether a patient is suffering from Pompe disease.[19]
As mentioned, the signs and symptoms of Pompe disease, such as poor muscle tone and an enlarged heart, are typical to other conditions too.[16] As such, a thorough and differential diagnosis by specialists can help to distinguish Pompe from other diseases with similar symptoms.[20] Supposing the differential diagnosis concludes that Pompe disease is indeed present, further testing such as enzyme activity tests to measure the levels and activity of the acid alpha-glucosidase enzyme, or genetic testing to examine the GAA gene to determine mutations, should be performed for confirmation.[21] In addition, chest x-rays to check for an enlarged heart, electrocardiograms (ECG) to detect abnormal heartbeat patterns, and electromyograms (EMG) to assess for the presence of muscle injury and dysfunction, are additional tests that are performed to diagnosis Pompe disease.[17]
## Treatment[edit]
There are two major approaches to treating Autophagic Vacuolar Myopathy: Enzyme Replacement Therapy (ERT) to compensate for the deficiency of the original enzyme by adding exogenous enzyme;[22] and gene therapy to replace or add genes to the body so that the body can produce the required protein.[23] ERT has been the main form of treatment though its effect is temporary. While gene therapy could be the ultimate cure, it is still under active research and more time is required before it can be applied to patients of AVM.[7]
### Enzyme Replacement Therapy (ERT)[edit]
Enzyme Replacement Therapy has been used to treat Pompe disease.[24] Since Pompe disease is caused by the deficiency of the enzyme acid alpha-glucosidase, the injection of the enzyme would alleviate the symptoms caused the disease.[22] The functional enzyme is produced by genetically modified cells in the laboratory.[22] It is then harvested, purified and eventually injected into the patient's body.[22] With this enzyme, the body will be able to convert glycogen to glucose, providing the body with energy and thus alleviating the problem of energy deficiency in the muscles and heart.[25]However, the exogenous enzyme might induce the production of neutralising antibodies, so immunosuppressive drugs are often consumed simulataneously to reduce the number of neutralising antibodies and prevent the exogenous enzyme from exerting its effect.[26]
A major limitation of ERT is that injections are needed routinely, meaning that ERT may not be a permanent cure since it can only improve the patient's muscle strength in the short term.[27] Another constraint is that the enzyme is unable to cross the blood-brain barrier, meaning that ERT is unable to correct the neurological symptoms of the disease.[27]
Despite the clear clinical benefits, some side effects from ERT are exhibited. These included mild allergic reactions towards the enzyme, which may snowball into anaphylaxis, a life-threatening allergy.[28] Other side effects are headaches, nausea, vomiting, chest discomfort and abnormal blood pressure.[29]
### Gene Therapy[edit]
AVM are genetic diseases caused by mutations of the genes.[5] In this way, AVM can be addressed with gene therapy. Gene therapy starts with the repairing or replacement of the gene that causes the disease.[30]If this does not work, additional genes will be inserted into the body to address the mutated gene.[31] Danon Disease, the most common form of AVM, could possibly be cured by adeno-associated virus 9 (AAV9)–mediated gene therapy.[32] Clinical studies on mice with the mutated LAMP2 gene have shown that the injection of the normal human LAMP2B gene into Lamp2 knockout mice actually managed to cure the mice from Danon disease.[7] This method could be a permanent solution since the gene would be able to generate the protein needed and normal functions of the protein would be restored.[33] Nevertheless, this method has not yet been trialed on human subjects so it needs further clinical trials to show its validity. The same concept could be applied to other AVM, targeting different gene mutations by introducing the normal version of the mutated gene.[33]
## Reference[edit]
1. ^ a b c d "Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy". Neurology. 93 (8): 371.2–371. August 2019. doi:10.1212/wnl.0000000000007478. PMID 31427494. S2CID 201093720.
2. ^ "KEGG DISEASE: Autophagic vacuolar myopathy". www.genome.jp. Retrieved 2020-03-29.
3. ^ a b c Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, et al. (March 2015). "Autophagic vacuolar pathology in desminopathies". Neuromuscular Disorders. 25 (3): 199–206. doi:10.1016/j.nmd.2014.12.002. PMC 4355324. PMID 25557463.
4. ^ a b "Test | Invitae Autophagic Vacuolar Myopathy Panel". www.invitae.com. Retrieved 2020-03-29.
5. ^ a b c d e f g h i Nishino I (January 2010). "[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]". Rinsho Shinkeigaku = Clinical Neurology. 50 (1): 1–6. doi:10.5692/clinicalneurol.50.1. PMID 20120346.
6. ^ a b Leah Plumb A (April 2004). "Genetics Home Reference". Reference Reviews. 18 (3): 38–39. doi:10.1108/09504120410528234. ISSN 0950-4125.
7. ^ a b c "Does Therapy Work and How?", Integrative Therapy: A Practitioner's Guide, SAGE Publications Ltd, pp. 23–44, 2007, doi:10.4135/9781446279892.n2, ISBN 978-1-4129-1211-2
8. ^ "KEGG DISEASE: Autophagic vacuolar myopathy". www.genome.jp. Retrieved 2020-03-29.
9. ^ Johnson B (November 2007), "9. Voice, Power and Modernity", Talking and Listening in the Age of Modernity: Essays on the history of sound, ANU Press, doi:10.22459/tlam.11.2007.09, ISBN 978-1-921313-47-9
10. ^ "Sex Linked". Genome.gov. Retrieved 2020-04-22.
11. ^ a b c "Danon disease". Genetics Home Reference. Retrieved 2020-04-06.
12. ^ a b c d e f "Danon Disease (Xq24)", Encyclopedic Dictionary of Genetics, Genomics and Proteomics, John Wiley & Sons, Inc., 2004-07-15, doi:10.1002/0471684228.egp03102, ISBN 0-471-68422-8
13. ^ Strehle EM (August 2009). "Food for thought: autophagic vacuolar myopathies". Archives of Disease in Childhood. 94 (8): 567–9. doi:10.1136/adc.2008.155010. PMID 19628877. S2CID 44794844.
14. ^ "Limb Girdle Muscular Dystrophies", SpringerReference, Springer-Verlag, 2011, doi:10.1007/springerreference_33831
15. ^ a b c d e "Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy". Neurology. 93 (8): 371.2–371. August 2019. doi:10.1212/wnl.0000000000007478. PMID 31427494. S2CID 201093720.
16. ^ a b c d Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, et al. (August 2019). "Infantile-onset Pompe disease: Diagnosis and management". Archivos Argentinos de Pediatria. 117 (4): 271–278. doi:10.5546/aap.2019.eng.271. PMID 31339275.
17. ^ a b c Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. (May 2006). "Pompe disease diagnosis and management guideline". Genetics in Medicine. 8 (5): 267–88. doi:10.1097/01.gim.0000218152.87434.f3. PMC 3110959. PMID 16702877.
18. ^ "X-Linked Myopathy with Excessive Autophagy". NORD (National Organization for Rare Disorders). Retrieved 2020-04-06.
19. ^ a b c Vissing J, Lukacs Z, Straub V (July 2013). "Diagnosis of Pompe disease: muscle biopsy vs blood-based assays". JAMA Neurology. 70 (7): 923–7. doi:10.1001/2013.jamaneurol.486. PMID 23649721.
20. ^ Dubrovsky A, Corderi J, Karasarides T, Taratuto AL (April 2013). "Pompe disease, the must-not-miss diagnosis: A report of 3 patients". Muscle & Nerve. 47 (4): 594–600. doi:10.1002/mus.23643. PMID 23463700.
21. ^ Iskit S (3 May 2018). "Diagnosis of Pompe Disease". Pompe Disease News.
22. ^ a b c d Bhui R, Spector AR (April 2020). "Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy". Neuromuscular Disorders. 30 (4): 329–330. doi:10.1016/j.nmd.2020.02.004. PMID 32173248. S2CID 211082029.
23. ^ Appleby CE, Kingston PA (June 2004). "Gene therapy for restenosis--what now, what next?". Current Gene Therapy. 4 (2): 153–82. doi:10.2174/1566523043346435. PMID 15180583.
24. ^ Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI (February 2016). "Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease". Neuromuscular Disorders. 26 (2): 136–45. doi:10.1002/14651858.cd012993. PMC 6494567.
25. ^ Kuperus E, Kruijshaar ME, Wens SC, de Vries JM, Favejee MM, van der Meijden JC, et al. (December 2017). "Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study". Neurology. 89 (23): 2365–2373. doi:10.1212/WNL.0000000000004711. PMID 29117951. S2CID 22669525.
26. ^ Matzner U (2005). "Therapy of Lysosomal Storage Diseases". Lysosomes. Springer US. pp. 112–129. doi:10.1007/0-387-28957-7_10. ISBN 978-0-387-25562-0.
27. ^ a b Schoenbach A (2018-09-10). "Enzyme Replacement Therapy". Pompe Disease News. Retrieved 2020-03-29.
28. ^ Ratner M (Aug 2009). "Genzyme's Lumizyme clears bioequivalence hurdles". Nature Biotechnology. 27 (8): 685. doi:10.1038/nbt0809-685a. ISSN 1087-0156. S2CID 9682328.
29. ^ "Lumizyme | About Lumizyme". home. Retrieved 2020-03-29.
30. ^ Hellman D (2017-09-08), "What Makes Genetic Discrimination Exceptional?", Genetics and Gene Therapy, Routledge, pp. 169–208, doi:10.4324/9781315254517-7, ISBN 978-1-315-25451-7
31. ^ "What is gene therapy?". Genetics Home Reference. Retrieved 2020-03-29.
32. ^ Manso AM, Hashem SI, Nelson BC, Gault E, Soto-Hermida A, Villarruel E, et al. (March 2020). "Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease". Science Translational Medicine. 12 (535): eaax1744. doi:10.1126/scitranslmed.aax1744. PMID 32188720. S2CID 213193924.
33. ^ a b "How does gene therapy work?". Genetics Home Reference. Retrieved 2020-03-29.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Autophagic Vacuolar Myopathy
|
c2931230
| 27,850 |
wikipedia
|
https://en.wikipedia.org/wiki/Autophagic_Vacuolar_Myopathy
| 2021-01-18T18:29:18 |
{"mesh": ["C536522"], "wikidata": ["Q63874868"]}
|
Hepatomegaly
Computerized tomography of hepatomegaly
SpecialtyHepatology
SymptomsWeight loss, lethargy[1]
CausesLiver abscess (pyogenic abscess), Malaria[1]
Diagnostic methodAbdominal ultrasonography[2]
TreatmentPrednisone and azathioprine[3]
Hepatomegaly is the condition of having an enlarged liver.[4] It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Infective
* 2.2 Neoplastic
* 2.3 Biliary
* 2.4 Metabolic
* 2.5 Drugs (including alcohol)
* 2.6 Congenital
* 2.7 Others
* 3 Mechanism
* 4 Diagnosis
* 4.1 Workup
* 5 Treatment
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
The individual may experience many symptoms, including weight loss, poor appetite and lethargy (jaundice and bruising may also be present).[1]
## Causes[edit]
Leptospirosis
Among the causes of hepatomegaly are the following:
### Infective[edit]
* Glandular fever (Infectious mononucleosis)[1]
* Hepatitis (A, B or C)[4]
* Liver abscess (pyogenic abscess)[1]
* Malaria[1]
* Amoeba infections[5]
* Hydatid cyst[6]
* Leptospirosis[7]
* Actinomycosis[8]
### Neoplastic
* Metastatic tumours[4]
* Hepatocellular carcinoma[4]
* Myeloma[1]
* Leukemia[4]
* Lymphoma[1]
### Biliary
* Primary biliary cirrhosis.[1]
* Primary sclerosing cholangitis.[1]
### Metabolic
* Haemochromatosis[1]
* Cholesteryl ester storage disease[9]
* Porphyria[1]
* Wilson's disease[1]
* Niemann Pick disease[4]
* Non-alcoholic fatty liver disease.[1]
* Glycogen storage disease (GSD)[4]
### Drugs (including alcohol)
* Alcohol abuse[4]
* Drug-induced hepatitis[1]
### Congenital
* Hemolytic anemia[1]
* Polycystic Liver Disease[1]
* Sickle cell disease[1]
* Hereditary fructose intolerance[4]
### Others
* Hunter syndrome (Spleen affected)[10]
* Zellweger's syndrome[11]
* Carnitine palmitoyltransferase I deficiency[12]
* Granulomatous: Sarcoidosis[13]
## Mechanism[edit]
The mechanism of hepatomegaly consists of vascular swelling, inflammation (due to the various causes that are infectious in origin) and deposition of (1) non-hepatic cells or (2) increased cell contents (such due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease).[14]
## Diagnosis[edit]
Abdominal ultrasonography of the liver, as a sagittal plane through the midclavicular line, with some standard measurements.[2]
Right lobe of the liver at the midclavicular line at ages 0 to 7.[15]
Suspicion of hepatomegaly indicates a thorough medical history and physical examination, wherein the latter typically includes an increased liver span.[citation needed]
On abdominal ultrasonography, the liver can be measured by the maximum dimension on a sagittal plane view through the midclavicular line, which is normally up to 18 cm in adults.[2] It is also possible to measure the cranio-caudal dimension, which is normally up to 15 cm in adults.[2] This can be measured together with the ventro-dorsal dimension (or depth), which is normally up to 13 cm.[2] Also, the caudate lobe is enlarged in many diseases. In the axial plane, the caudate lobe should normally have a cross-section of less than 0.55 of the rest of the liver.[2]
Other ultrasound studies have suggested hepatomegaly as being defined as a longitudinal axis > 15.5 cm at the hepatic midline, or > 16.0 cm at the midclavicular line.[16][17]
### Workup[edit]
Blood tests should be done, importantly liver-function series, which will give a good impression of the patient's broad metabolic picture.[medical citation needed]
A complete blood test can help distinguish intrinsic liver disease from extrahepatic bile-duct obstruction.[18] An ultrasound of the liver can reliably detect a dilated biliary-duct system,[19] it can also detect the characteristics of a cirrhotic liver.[20]
Computerized tomography (CT) can help to obtain accurate anatomical information, in individuals with hepatomegaly for the purpose of a complete diagnosis.[21]
## Treatment[edit]
Prednisone
Treatment of hepatomegaly will vary depending on the cause of the liver enlargement and hence accurate diagnosis is the primary concern. In the case of auto-immune liver disease, prednisone and azathioprine may be used for treatment.[3]
In the case of lymphoma the treatment options include single-agent (or multi-agent) chemotherapy and regional radiotherapy, also surgery may be an option in specific situations. Meningococcal group C conjugate vaccine are also used in some cases.[22]
In primary biliary cirrhosis ursodeoxycholic acid helps the bloodstream remove bile which may increase survival in some affected individuals.[23]
## See also[edit]
* Hepatosplenomegaly
* Liver function tests
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s "Hepatomegaly. Read about Hepatomegaly (enlarged liver) | Patient". Patient. Retrieved 2016-02-27.
2. ^ a b c d e f Christoph F. Dietrich, Carla Serra, Maciej Jedrzejczyk (2010-07-28). "Ultrasound of the liver - EFSUMB – European Course Book" (PDF). European federation of societies for ultrasound in medicine and biology (EFSUMB). Archived from the original (PDF) on 2017-08-12. Retrieved 2017-12-21.CS1 maint: multiple names: authors list (link)
3. ^ a b "Cirrhosis: Practice Essentials, Overview, Epidemiology". 2018-10-31. Cite journal requires `|journal=` (help)
4. ^ a b c d e f g h i "Hepatomegaly: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-02-27.
5. ^ Lang, Florian (2009-03-19). Encyclopedia of Molecular Mechanisms of Disease: With 213 Tables. Springer Science & Business Media. p. 824. ISBN 9783540671367.
6. ^ Prevention, CDC - Centers for Disease Control and. "CDC - Echinococcosis - Resources for Health Professionals". www.cdc.gov. Retrieved 2016-03-11.
7. ^ "Leptospirosis (Weil's Disease) | Doctor | Patient". Patient. Retrieved 2016-03-11.
8. ^ Banfalvi, Gaspar (2013-10-16). Homeostasis - Tumor - Metastasis. Springer Science & Business Media. p. 145. ISBN 9789400773356.
9. ^ "Cholesteryl Ester Storage Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-03-11.
10. ^ "Hunter's Syndrome. MPS II information; symptoms | Patient". Patient. Retrieved 2016-03-11.
11. ^ "OMIM Entry - # 214100 - PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A". www.omim.org. Archived from the original on 2015-02-14. Retrieved 2016-03-11.
12. ^ "CPT I deficiency". Genetics Home Reference. 2016-03-07. Retrieved 2016-03-11.
13. ^ "Sarcoidosis | Doctor | Patient". Patient. Retrieved 2016-03-11.
14. ^ Dennis, Mark; Bowen, William Talbot; Cho, Lucy (2012-01-01). Mechanisms of Clinical Signs. Elsevier Australia. p. 469. ISBN 9780729540759.
15. ^ Rocha, Silvia Maria Sucena da; Ferrer, Ana Paula Scoleze; Oliveira, Ilka Regina Souza de; Widman, Azzo; Chammas, Maria Cristina; Oliveira, Luiz Antonio Nunes de; Cerri, Giovanni Guido (2009). "Determinação do tamanho do fígado de crianças normais, entre 0 e 7 anos, por ultrassonografia". Radiologia Brasileira. 42 (1): 7–13. doi:10.1590/S0100-39842009000100004. ISSN 0100-3984.
16. ^ Gosink, BB; Leymaster, CE (January 1981). "Ultrasonic determination of hepatomegaly". Journal of Clinical Ultrasound. 9 (1): 37–44. doi:10.1002/jcu.1870090110. PMID 6792230. S2CID 22827636.
17. ^ Kratzer, W; Fritz, V; Mason, RA; Haenle, MM; Kaechele, V; Roemerstein Study, Group. (November 2003). "Factors affecting liver size: a sonographic survey of 2080 subjects". Journal of Ultrasound in Medicine. 22 (11): 1155–61. doi:10.7863/jum.2003.22.11.1155. PMID 14620885. S2CID 29904060.
18. ^ Goldman, Lee; Schafer, Andrew I. (2015-04-21). Goldman-Cecil Medicine. Elsevier Health Sciences. p. 991. ISBN 9780323322850.
19. ^ Meacock, L M; Sellars, M E; Sidhu, P S (2010-07-01). "Evaluation of gallbladder and biliary duct disease using microbubble contrast-enhanced ultrasound". The British Journal of Radiology. 83 (991): 615–627. doi:10.1259/bjr/60619911. ISSN 0007-1285. PMC 3473688. PMID 20603412.
20. ^ Murray, Karen F.; Horslen, Simon (2013-12-11). Diseases of the Liver in Children: Evaluation and Management. Springer Science & Business Media. p. 199. ISBN 9781461490050.
21. ^ Mirvis, Stuart E.; Soto, Jorge A.; Shanmuganathan, Kathirkamanathan; Yu, Joseph; Kubal, Wayne S. (2014-08-19). Problem Solving in Emergency Radiology. Elsevier Health Sciences. p. 442. ISBN 9781455758395.
22. ^ "Non-Hodgkin's Lymphoma | Doctor | Patient". Patient. Retrieved 2016-03-11.
23. ^ "Primary biliary cirrhosis: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-03-12.
## Further reading[edit]
* Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (2009-11-21). Inherited Metabolic Diseases: A Clinical Approach. Springer Science & Business Media. ISBN 9783540747239.
* Kim, Sun Bean; Kim, Do Kyung; Byun, Sun Jeong; Park, Ji Hye; Choi, Jin Young; Park, Young Nyun; Kim, Do Young (2015-12-01). "Peliosis hepatis presenting with massive hepatomegaly in a patient with idiopathic thrombocytopenic purpura". Clinical and Molecular Hepatology. 21 (4): 387–392. doi:10.3350/cmh.2015.21.4.387. ISSN 2287-2728. PMC 4712167. PMID 26770928.
## External links[edit]
* Merck Manual: Hepatomegaly
Classification
D
* ICD-10: R16..0
* ICD-9-CM: 789.1
* MeSH: D006529
External resources
* MedlinePlus: 003275
* Patient UK: Hepatomegaly
Scholia has a topic profile for Hepatomegaly.
* v
* t
* e
Symptoms and signs relating to the human digestive system or abdomen
Gastrointestinal
tract
* Nausea
* Vomiting
* Heartburn
* Aerophagia
* Pagophagia
* Dysphagia
* oropharyngeal
* esophageal
* Odynophagia
* Bad breath
* Xerostomia
* Hypersalivation
* Burping
* Wet burp
* Goodsall's rule
* Chilaiditi syndrome
* Dance's sign
* Aaron's sign
* Arapov's sign
* Markle sign
* McBurney's point
* Sherren's triangle
* Radiologic signs: Hampton's line
* Klemm's sign
Accessory
* liver: Councilman body
* Mallory body
* biliary: Boas' sign
* Courvoisier's law
* Charcot's cholangitis triad/Reynolds' pentad
* cholecystitis (Murphy's sign
* Lépine's sign
* Mirizzi's syndrome)
* Nardi test
Defecation
* Flatulence
* Fecal incontinence
* Encopresis
* Fecal occult blood
* Rectal tenesmus
* Constipation
* Obstructed defecation
* Diarrhea
* Rectal discharge
* Psoas sign
* Obturator sign
* Rovsing's sign
* Hamburger sign
* Heel tap sign
* Aure-Rozanova's sign
* Dunphy sign
* Alder's sign
* Lockwood's sign
* Rosenstein's sign
Abdomen
Pain
* Abdominal pain
* Acute abdomen
* Colic
* Baby colic
* Abdominal guarding
* Blumberg sign
Distension
* Abdominal distension
* Bloating
* Ascites
* Tympanites
* Shifting dullness
* Ascites
* Fluid wave test
Masses
* Abdominal mass
* Hepatosplenomegaly
* Hepatomegaly
* Splenomegaly
Other
* Jaundice
* Mallet-Guy sign
* Puddle sign
* Ballance's sign
* Aortic insufficiency
* Castell's sign
* Kehr's sign
* Cullen's sign
* Grey Turner's sign
Hernia
* Howship–Romberg sign
* Hannington-Kiff sign
Other
* Cupola sign
* Fothergill's sign
* Carnett's sign
* Sister Mary Joseph nodule
* v
* t
* e
Medicine
Specialties
and
subspecialties
Surgery
* Cardiac surgery
* Cardiothoracic surgery
* Colorectal surgery
* Eye surgery
* General surgery
* Neurosurgery
* Oral and maxillofacial surgery
* Orthopedic surgery
* Hand surgery
* Otolaryngology
* ENT
* Pediatric surgery
* Plastic surgery
* Reproductive surgery
* Surgical oncology
* Transplant surgery
* Trauma surgery
* Urology
* Andrology
* Vascular surgery
Internal medicine
* Allergy / Immunology
* Angiology
* Cardiology
* Endocrinology
* Gastroenterology
* Hepatology
* Geriatrics
* Hematology
* Hospital medicine
* Infectious disease
* Nephrology
* Oncology
* Pulmonology
* Rheumatology
Obstetrics and gynaecology
* Gynaecology
* Gynecologic oncology
* Maternal–fetal medicine
* Obstetrics
* Reproductive endocrinology and infertility
* Urogynecology
Diagnostic
* Radiology
* Interventional radiology
* Nuclear medicine
* Pathology
* Anatomical
* Clinical pathology
* Clinical chemistry
* Cytopathology
* Medical microbiology
* Transfusion medicine
Other
* Addiction medicine
* Adolescent medicine
* Anesthesiology
* Dermatology
* Disaster medicine
* Diving medicine
* Emergency medicine
* Mass gathering medicine
* Family medicine
* General practice
* Hospital medicine
* Intensive care medicine
* Medical genetics
* Narcology
* Neurology
* Clinical neurophysiology
* Occupational medicine
* Ophthalmology
* Oral medicine
* Pain management
* Palliative care
* Pediatrics
* Neonatology
* Physical medicine and rehabilitation
* PM&R
* Preventive medicine
* Psychiatry
* Addiction psychiatry
* Radiation oncology
* Reproductive medicine
* Sexual medicine
* Sleep medicine
* Sports medicine
* Transplantation medicine
* Tropical medicine
* Travel medicine
* Venereology
Medical education
* Medical school
* Bachelor of Medicine, Bachelor of Surgery
* Bachelor of Medical Sciences
* Master of Medicine
* Master of Surgery
* Doctor of Medicine
* Doctor of Osteopathic Medicine
* MD–PhD
Related topics
* Alternative medicine
* Allied health
* Dentistry
* Podiatry
* Pharmacy
* Physiotherapy
* Molecular oncology
* Nanomedicine
* Personalized medicine
* Public health
* Rural health
* Therapy
* Traditional medicine
* Veterinary medicine
* Physician
* Chief physician
* History of medicine
* Book
* Category
* Commons
* Wikiproject
* Portal
* Outline
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Hepatomegaly
|
c0019209
| 27,851 |
wikipedia
|
https://en.wikipedia.org/wiki/Hepatomegaly
| 2021-01-18T18:56:29 |
{"mesh": ["D006529"], "umls": ["C0019209"], "icd-9": ["789.1"], "icd-10": ["R16.0"], "wikidata": ["Q1362864"]}
|
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article provides insufficient context for those unfamiliar with the subject. Please help improve the article by providing more context for the reader. (September 2017) (Learn how and when to remove this template message)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Rectitis" – news · newspapers · books · scholar · JSTOR (September 2017) (Learn how and when to remove this template message)
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. (September 2017)
(Learn how and when to remove this template message)
Rectitis is an inflammation of the inner rectum. It mainly affects the rectal mucous membrane.[1] The condition can be acute or it may be a chronic condition. Rectitis may be caused due to conditions such as ulcerative colitis or Chron's disease.[1]
## References[edit]
1. ^ a b "Rectitis - Definition". CCM Health.
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
|
Rectitis
|
c0033246
| 27,852 |
wikipedia
|
https://en.wikipedia.org/wiki/Rectitis
| 2021-01-18T18:48:39 |
{"mesh": ["D011349"], "wikidata": ["Q39071690"]}
|
Gastroschisis is a birth defect that occurs when a baby's intestines extend outside of the body through a hole next to the belly button. This type of defect is known as an abdominal wall defect. Sometimes other organs are also involved. The exact cause of a gastroschisis is usually not known, but it is more common in babies born to young mothers or to mothers who may have used alcohol or tobacco during their pregnancies. Gastroschisis is typically diagnosed on routine ultrasound examinations before a baby is born. These babies may need to be born in hospitals with specialists who are experienced in treating gastroschisis. Treatment includes a special kind of surgery that gradually returns the intestines to the abdomen (silo repair). Prognosis depends primarily on the degree of injury to the bowel, and on the presence of other birth defects. Though long-term outcomes for babies born with simple gastroschisis are generally good, some children may have problems with digestion later in life.
Complications from gastroschisis can include intestinal problems, breathing difficulties, and infection. Some cases of gastroschisis may resolve in utero, with closure of the hole of the abdominal wall, resulting in strangulation and destruction of the herniated bowel (vanishing gastroschisis or vanishing gut syndrome), and very short-bowel syndrome. Other complications include incomplete bowel (atresia), destruction (necrosis), perforation or twisting (volvulos). The prognosis of these cases is poor, but detecting these problems during pregnancy (antenatal diagnosis) and having fetal intervention may improve the outcome in the future.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Gastroschisis
|
c0265706
| 27,853 |
gard
|
https://rarediseases.info.nih.gov/diseases/8661/gastroschisis
| 2021-01-18T18:00:22 |
{"mesh": ["D020139"], "omim": ["230750"], "umls": ["C0265706"], "orphanet": ["2368"], "synonyms": ["Congenital fissure of the abdominal cavity", "Laparoschisis"]}
|
Fracture of the scaphoid bone in the wrist
Scaphoid fracture
Other namesCarpal scaphoid fracture, carpal navicular fracture[1]
An X-ray showing a fracture through the waist of the scaphoid
SpecialtyHand surgery, emergency medicine
SymptomsPain at the base of the thumb, swelling[2]
ComplicationsNonunion, avascular necrosis, arthritis[2][1]
TypesProximal, medial, distal[2]
CausesFall on an outstretched hand[2]
Diagnostic methodExamination, X-rays, MRI, bone scan[2]
Differential diagnosisDistal radius fracture, De Quervain's tenosynovitis, scapholunate dissociation, wrist sprain[2][1]
PreventionWrist guards[1]
TreatmentNot displaced: Cast[2]
Displaced: Surgery[2]
PrognosisHealing may take up to six months[1]
A scaphoid fracture is a break of the scaphoid bone in the wrist.[1] Symptoms generally includes pain at the base of the thumb which is worse with use of the hand.[2] The anatomic snuffbox is generally tender and swelling may occur.[2] Complications may include nonunion of the fracture, avascular necrosis, and arthritis.[2][1]
Scaphoid fractures are most commonly caused by a fall on an outstretched hand.[2] Diagnosis is generally based on examination and medical imaging.[2] Some fractures may not be visible on plain X-rays.[2] In such cases a person may be casted with repeat X-rays in two weeks or an MRI or bone scan may be done.[2]
The fracture may be preventable by using wrist guards during certain activities.[1] In those in whom the fracture remains well aligned a cast is generally sufficient.[2] If the fracture is displaced then surgery is generally recommended.[2] Healing may take up to six months.[1] It is the most common wrist bone fracture.[3] Males are affected more often than females.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 Terminology
* 7 References
* 8 External links
## Signs and symptoms[edit]
Anatomical snuff box
People with scaphoid fractures generally have snuff box tenderness.
Focal tenderness is usually present in one of three places: 1) volar prominence at the distal wrist for distal pole fractures; 2) anatomic snuff box for waist or midbody fractures; 3) distal to Lister's tubercle for proximal pole fractures.[4]
### Complications[edit]
Scaphoid pseudarthrosis, before and after treatment with Herbert screw.
Vascular supply of the scaphoid comes from two different vascular pedicles. 20-30% of the blood supply (a.) comes from the volar branch of the radial artery and enters the bone at the tubercle. 70-80% comes from (b.) the dorsal branch of the radial artery and travels towards the proximal pole.
Avascular necrosis (AVN) is a common complication of a scaphoid fracture. Since the scaphoid blood supply comes from two different vascular branches of the radial artery, fractures can limit access to blood supply.[5]
Risk of AVN depends on the location of the fracture.
* Fractures in the proximal 1/3 have a high incidence of AVN (~30%)
* Waist fractures in the middle 1/3 is the most frequent fracture site and has moderate risk of AVN.
* Fractures in the distal 1/3 are rarely complicated by AVN.
Non union can also occur from undiagnosed or undertreated scaphoid fractures. Arterial flow to the scaphoid enters via the distal pole and travels to the proximal pole. This blood supply is tenuous, increasing the risk of nonunion, particularly with fractures at the wrist and proximal end.[4] If not treated correctly non-union of the scaphoid fracture can lead to wrist osteoarthritis.
Symptoms may include aching in the wrist, decreased range of motion of the wrist, and pain during activities such as lifting or gripping. If x-ray results show arthritis due to an old break, the treatment plan will first focus on treating the arthritis through anti-inflammatory medications and wearing a splint when an individual feels pain in the wrist. If these treatments do not help the symptoms of arthritis, steroid injections to the wrist may help alleviate pain. Should these treatments not work, surgery may be required.[6]
## Mechanism[edit]
Scaphoid fractures occur in three locations: (A) Distal tubercle, (B) waist, and (C) proximal pole.
Fractures of scaphoid can occur either with direct axial compression or with hyperextension of the wrist, such as a fall on the palm on an outstretched hand (FOOSH). Using the Herbert classification system, there are three main types of scaphoid fractures. 10%-20% of fractures are at the proximal pole, 60%-80% are at the waist (middle), and the remainder occur at the distal pole.[4][7][5]
## Diagnosis[edit]
Fracture of the tubercle of the scaphoid bone of the wrist
Scaphoid fractures are often diagnosed by PA and lateral X-rays. However, not all fractures are apparent initially.[7] Therefore, people with tenderness over the scaphoid (those who exhibit pain to pressure in the anatomic snuff box ) are often splinted in a thumb spica for 7–10 days at which point a second set of X-rays is taken.[7] If there was a hairline fracture, healing will now be apparent. Even then a fracture may not be apparent. A CT Scan can then be used to evaluate the scaphoid with greater resolution. The use of MRI, if available, is preferred over CT and can give one an immediate diagnosis.[8] Bone scintigraphy is also an effective method for diagnosis fracture which do not appear on Xray.[9]
* A subtle scaphoid fracture
* A more obvious scaphoid fracture on a scaphoid view X ray
* Radiolucency around a 12 days old scaphoid fracture that was initially barely visible.[10]
## Treatment[edit]
Treatment of scaphoid fractures is guided by the location in the bone of the fracture (proximal, waist, distal), displacement (or instability) of the fracture, and patient tolerance for cast immobilization.[citation needed]
Non displaced or minimally displaced waist and distal fractures have a high rate of union with closed cast management. The choice of short arm, short arm thumb spica or long arm cast is debated in the medical literature and no clear consensus or proof of the benefit of one type of casting or another has been shown; although it is generally accepted to use a short arm or short arm thumb spica for non displaced fractures.[7] Non displaced or minimally displaced fracture can also be treated with percutaneous or minimal incision surgery which if performed correctly has a high union rate, low morbidity and faster return to activity than closed cast management.[11]
Fractures that are more proximal take longer to heal. It is expected the distal third will heal in 6 to 8 weeks, the middle third will take 8–12 weeks, and the proximal third will take 12–24 weeks.[7][5] The Scaphoid receives its blood supply primarily from lateral and distal branches of the radial artery. Blood flows from the top/distal end of the bone in a retrograde fashion down to the proximal pole; if this blood flow is disrupted by a fracture, the bone may not heal. Surgery is necessary at this point to mechanically mend the bone together.[citation needed]
Percutaneous screw fixation is recommended over an open surgical approach when it is possible to achieve acceptable bone alignment closed as minimal incisions can preserves the palmar ligament complex and local vasculature, and help avoid soft tissue complications. This surgery includes screwing the scaphoid bone back together at the most perpendicular angle possible to promote quicker and stronger healing of the bone. Internal fixation can be done dorsally with a percutaneous incision and arthroscopic assistance [12] or via a minimal open dorsal approach,[11] or via a volar approach in which case slight excavation of the edge of the trapezium bone may be necessary to reach the scaphoid as 80% of this bone is covered with articular cartilage, which makes it difficult to gain access to the scaphoid.[13]
## Epidemiology[edit]
Fractures of the scaphoid are common in young males.[14] They are less common in children and older adults because the distal radius is weaker contributor to the wrist and more likely to fracture in these age groups.[7] Scaphoid fractures account for 50%-80% of carpal injuries.[5]
## Terminology[edit]
These are also called navicular fractures (the scaphoid also being called the carpal navicular), although this can be confused with the navicular bone in the foot.
## References[edit]
1. ^ a b c d e f g h i "Scaphoid Fracture of the Wrist". AAOS. March 2016. Archived from the original on 24 September 2017. Retrieved 12 October 2017.
2. ^ a b c d e f g h i j k l m n o p q r Phillips, TG; Reibach, AM; Slomiany, WP (1 September 2004). "Diagnosis and management of scaphoid fractures". American Family Physician. 70 (5): 879–84. PMID 15368727.
3. ^ Tada, K; Ikeda, K; Okamoto, S; Hachinota, A; Yamamoto, D; Tsuchiya, H (2015). "Scaphoid Fracture--Overview and Conservative Treatment". Hand Surgery. 20 (2): 204–9. doi:10.1142/S0218810415400018. PMID 26051761.
4. ^ a b c deWeber, Kevin. "Scaphoid fractures". UpToDate.com. Archived from the original on 2013-10-29.
5. ^ a b c d 1967-, Egol, Kenneth A. (2015). Handbook of fractures. Koval, Kenneth J., Zuckerman, Joseph D. (Joseph David), 1952-, Ovid Technologies, Inc. (5th ed.). Philadelphia: Wolters Kluwer Health. ISBN 978-1451193626. OCLC 960851324.CS1 maint: numeric names: authors list (link)
6. ^ Jones, Bertrand MD (2010). "Scaphoid Fracture of the Wrist". Ortho Info. American Academy of Orthopedic Surgeons. Archived from the original on December 7, 2015. Retrieved November 30, 2015.
7. ^ a b c d e f Essentials of musculoskeletal care. Sarwark, John F. Rosemont, Ill.: American Academy of Orthopaedic Surgeons. 2010. ISBN 978-0892035793. OCLC 706805938.CS1 maint: others (link)
8. ^ "BestBets: Magnetic resonance imaging of suspected scaphoid fractures". Archived from the original on 2010-06-16.
9. ^ Yin ZG, Zhang JB, Kan SL, Wang XG (March 2010). "Diagnosing suspected scaphoid fractures: a systematic review and meta-analysis". Clin. Orthop. Relat. Res. 468 (3): 723–34. doi:10.1007/s11999-009-1081-6. PMC 2816764. PMID 19756904.
10. ^ Jarraya, Mohamed; Hayashi, Daichi; Roemer, Frank W.; Crema, Michel D.; Diaz, Luis; Conlin, Jane; Marra, Monica D.; Jomaah, Nabil; Guermazi, Ali (2013). "Radiographically Occult and Subtle Fractures: A Pictorial Review". Radiology Research and Practice. 2013: 1–10. doi:10.1155/2013/370169. ISSN 2090-1941. PMC 3613077. PMID 23577253. CC-BY 3.0
11. ^ a b Gutow AP (Aug 2007). "Percutaneous fixation of scaphoid fractures". J Am Acad Orthop Surg. 15 (8): 474–85. doi:10.5435/00124635-200708000-00004. PMID 17664367.
12. ^ Slade JF 3rd, Gutow AP, Geissler WB. Percutaneous internal fixation of scaphoid fractures via an arthroscopically assisted dorsal approach. J Bone Joint Surg Am. 2002;84-A Suppl 2:21-36. doi:10.2106/00004623-200200002-00003
13. ^ Kastelec, Matej. "Percutaneous Screw Fixation". AO Foundation. Archived from the original on December 8, 2015. Retrieved November 30, 2015.
14. ^ Beasley's Surgery of the Hand. Thieme New York. 2003. p. 188. ISBN 9781282950023.
## External links[edit]
Classification
D
* ICD-10: S62.0
* ICD-9-CM: 814.x1
External resources
* eMedicine: emerg/844 radio/747 plastic/318 pmr/127
* AAFP: Diagnosis and Management of Scaphoid Fractures
* Wheeless: Scaphoid fracture
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Scaphoid fracture
|
c0272654
| 27,854 |
wikipedia
|
https://en.wikipedia.org/wiki/Scaphoid_fracture
| 2021-01-18T18:53:32 |
{"icd-9": ["814"], "icd-10": ["S62.0"], "wikidata": ["Q922425"]}
|
Apnea of prematurity
SpecialtyPediatrics
Apnea of prematurity is defined as cessation of breathing by a premature infant that lasts for more than 20 seconds and/or is accompanied by hypoxia or bradycardia. Apnea is traditionally classified as either obstructive, central, or mixed. Obstructive apnea may occur when the infant's neck is hyperflexed or conversely, hyperextended. It may also occur due to low pharyngeal muscle tone or to inflammation of the soft tissues, which can block the flow of air though the pharynx and vocal cords. Central apnea occurs when there is a lack of respiratory effort. This may result from central nervous system immaturity, or from the effects of medications or illness. Many episodes of apnea of prematurity may start as either obstructive or central, but then involve elements of both, becoming mixed in nature.[1]
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 3.1 Medications
* 3.2 Respiratory support
* 3.3 Monitoring
* 4 Outcome
* 5 Epidemiology
* 6 References
* 7 External links
## Pathophysiology[edit]
Ventilatory drive is primarily dependent on response to increased levels of carbon dioxide (CO2) and acid in the blood. A secondary stimulus is hypoxia. Responses to these stimuli are impaired in premature infants due to immaturity of specialized regions of the brain that sense these changes. In addition, premature infants have an exaggerated response to laryngeal stimulation (a normal reflex that closes the airway as a protective measure).[1]
## Diagnosis[edit]
Apnea of prematurity can be readily identified from other forms of infant apnea such as obstructive apnea, hypoventilation syndromes, breathing regulation issues during feeding, and reflux associated apnea with an infant pneumogram or infant apnea/sleep study.
It has been reported that the incidence of neonatal apnea happens in almost all infants with gestational age of less than 29 weeks or the birth weight of less than 1000g.[2][3][4]
## Treatment[edit]
### Medications[edit]
Methylxanthines (theophylline and caffeine) have been used for almost three decades to treat apnea of prematurity.[5] Despite this prevalent use, there are concerns of long term negative effects from the use of caffeine.[6] Caffeine and theophylline have similar short-term effects on apnea, but theophylline is associated with higher rates of toxicity.[7]
### Respiratory support[edit]
Simple tactile stimulation by touching the skin or patting the infant may stop an apneic episode by raising the infant's level of alertness. Increasing the environmental oxygen level by placing the infant in a tent or hood with supplemental oxygen can diminish the frequency of AOP, and may also help the infant maintain adequate oxygenation during short episodes of apnea. Increased oxygen at low levels can also be delivered using a nasal cannula, which additionally may provide some stimulation due to the tactile stimulation of the cannula. CPAP (continuous positive airway pressure) is sometimes used for apnea when medications and supplemental oxygen are not sufficient. Usually as a last resort, mechanical ventilation is used to support infants whose apnea cannot be controlled sufficiently by other methods and where the potential risk of harm from recurrent hypoxia is felt to outweigh the risks of injury from ventilation.
### Monitoring[edit]
In-hospital monitors in the NICU typically measure respiratory movements, heartrate, and pulse oximetry. Central apnea can be detected quickly since it results in absence of respiratory movements. Obstructive apnea can be detected when the level of oxygen has declined in the blood and/or results in slowing of the heart rate.
Home apnea monitors (which must be distinguished from infant monitors that are designed only to allow parents to listen to the infant remotely) most frequently measure only respiratory movements and/or heart rate. They are generally used with premature infants who are otherwise ready for discharge, but who continue to require supplemental oxygen or medication for mild residual AOP. Home apnea monitoring is typically required for 6–12 weeks after discharge.
## Outcome[edit]
Since AOP is fundamentally a problem of the immaturity of the physiological systems of the premature infant, it is a self-limited condition that will resolve when these systems mature. It is unusual for an infant to continue to have significant problems with AOP beyond 43 weeks post-conceptual age.
Infants who have had AOP are at increased risk of recurrence of apnea in response to exposure to anesthetic agents, at least until around 52 weeks post-conceptual age.
There is no evidence that a history of AOP places an infant at increased risk for SIDS. However, any premature infant (regardless of whether they have had AOP) is at increased risk of SIDS. It is important that other factors related to SIDS risk be avoided (exposure to smoking, prone sleeping, excess bedding materials, etc.)
## Epidemiology[edit]
Apnea of prematurity occurs in at least 85 percent of infants who are born at less than 34 weeks of gestation. The incidence is inversely related to the gestational maturity of the infant, but has considerable individual variability.
## References[edit]
1. ^ a b Martin R.J.; et al. (2002). "Pathophysiologic Mechanisms Underlying Apnea of Prematurity". NeoReviews. 3 (4): e59–e65. doi:10.1542/neo.3-4-e59.
2. ^ Dong LB, Li YF, Zhang Y, Qiao S. A pilot study of limb stimulation for the treatment of neonatal apnea. Medicine (Baltimore). 2018;97(49):e12827. doi:10.1097/MD.0000000000012827.
3. ^ Martin RJ, Abu-Shaweesh JM, Baird TM. Apnoea of prematurity.Paediatr Resp Rev 2004;5(suppl A):S377–82
4. ^ Robertson CM, Watt MJ, Dinu IA. Outcomes for the extremelypremature infant: what is new? And where are we going. Pediatr Neurol2009;40:189–96.
5. ^ Baird, T.M.; et al. (2002). "Clinical Associations, Treatment, and Outcome of Apnea of Prematurity". NeoReviews. 3 (4): e66–e70. doi:10.1542/neo.3-4-e66.
6. ^ Atik, Anzari; Harding, Richard; De Matteo, Robert; Kondos-Devcic, Delphi; Cheong, Jeanie; Doyle, Lex W.; Tolcos, Mary (January 2017). "Caffeine for apnea of prematurity: Effects on the developing brain". NeuroToxicology. 58: 94–102. doi:10.1016/j.neuro.2016.11.012. PMID 27899304. S2CID 46761491.
7. ^ Henderson‐Smart, David J.; Steer, Peter A. (2010-01-20), "Caffeine versus theophylline for apnea in preterm infants" (PDF), The Cochrane Library, John Wiley & Sons, Ltd (1), pp. CD000273, doi:10.1002/14651858.cd000273.pub2, PMID 20091506
## External links[edit]
Classification
D
* ICD-9-CM: 770.81
* DiseasesDB: 32036
External resources
* MedlinePlus: 007227
* eMedicine: ped/1157
* 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
|
Apnea of prematurity
|
c0475715
| 27,855 |
wikipedia
|
https://en.wikipedia.org/wiki/Apnea_of_prematurity
| 2021-01-18T18:43:25 |
{"umls": ["C0475715"], "icd-9": ["770.81"], "orphanet": ["99981"], "wikidata": ["Q4780036"]}
|
Botryoid odontogenic cyst is a variant of the lateral periodontal cyst. It is more often found in middle-aged and older adults, and the teeth more likely affected are mandibular (lower) canines and premolars. On radiographs, the cyst appears "grape-like". Often patients with this condition are symptomatic.
## Contents
* 1 Radiographic features
* 2 Histologic features
* 3 References
## Radiographic features[edit]
The botryoid odontogenic cyst is a multi-compartmentalized variant of the lateral periodontal cyst. It is similar to the lateral periodontal cyst in all its features except that its polycystic nature is often evident through its multilocular pattern on radiographs.
## Histologic features[edit]
Histologically also it resembles the lateral periodontal cyst which has a distinctive thin, nonkeratinized epithelium which is 1-5 cell layers thick and resembles the reduced enamel epithelium.
* Cuboidal or columnar cells may be found composing the lining.
* Focal thickened plaques of proliferating lining cells often project into the lumen areas which is commonly seen in this cyst.
* Large number of rests of dental lamina are found in the connective tissue composed of glycogen rich clear cells.
reference can be made to the histologic details given by shear and pindborg
## References[edit]
* Kahn, Michael A. Basic Oral and Maxillofacial Pathology. Volume 1. 2001.
* shafer's textbook of oral pathology 5th edition
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
|
Botryoid odontogenic cyst
|
c3266060
| 27,856 |
wikipedia
|
https://en.wikipedia.org/wiki/Botryoid_odontogenic_cyst
| 2021-01-18T18:28:12 |
{"wikidata": ["Q4948817"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.
Mapping
O'Donovan et al. (2008) carried out a genomewide association study of schizophrenia (479 cases and 2,937 controls) and tested loci with p less than 10(-5) in up to 16,726 additional subjects. Of 12 loci followed up, 3 had strong independent support (p less than 5 x 10(-4)), and the overall pattern of replication was unlikely to occur by chance (p = 9 x 10(-8)). Metaanalysis provided strongest evidence for association with SNP rs1344706 in the ZNF804A gene (612282) on chromosome 2q32.1 (p = 1.61 x 10(-7)) and this strengthened when the affected phenotype included bipolar disorder (p = 9.96 x 10(-9)).
To investigate neurogenetic risk mechanisms present in carriers of the rs1344706 allele, Esslinger et al. (2009) used functional magnetic resonance imaging (fMRI) and a well-validated executive cognition probe, the n-back task, related to heritable schizophrenic risk, dorsolateral prefrontal cortex (DLPFC) and hippocampal formation (HF) activity, and candidate gene variation to assess 115 healthy genotyped German participants. The effects of rs1344706 on activation and connectivity were mapped across the brain using the general linear model. Esslinger et al. (2009) found that regional brain activation was not significantly related to genotype, but connectivity of the most activated DLPFC locale was strongly altered: in risk allele carriers, connectivity both within DLPFC (same side) and to contralateral DLPFC was reduced. Conversely, the HF was uncoupled from DLPFC in nonrisk-allele homozygotes but showed dose-dependent increased connectivity in risk allele carriers. Lastly, the risk allele predicted extensive increases of connectivity from amygdala, including to hippocampus, orbitofrontal cortex, and medial prefrontal cortex. The rs1344706 genotype had no impact on performance (reaction time and percentage of correct answers), and they did not find correlations between behavior and connectivity, indicating that genetic variation is more penetrant on the neurobiologic (imaging) phenotype level, as expected for intermediate phenotypes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
SCHIZOPHRENIA 14
|
c2677614
| 27,857 |
omim
|
https://www.omim.org/entry/612361
| 2019-09-22T16:01:44 |
{"omim": ["612361"], "synonyms": ["Alternative titles", "SCZD14", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 2q32-RELATED"]}
|
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.
Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.
## Frequency
Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.
## Causes
Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.
The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.
Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition.
Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.
### Learn more about the genes associated with Asphyxiating thoracic dystrophy
* DYNC2H1
* IFT140
* IFT80
* WDR19
* WDR35
Additional Information from NCBI Gene:
* CEP120
* CSPP1
* DYNC2I1
* DYNC2I2
* IFT172
* TTC21B
## 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
|
Asphyxiating thoracic dystrophy
|
c4551856
| 27,858 |
medlineplus
|
https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/
| 2021-01-27T08:25:29 |
{"gard": ["3049"], "mesh": ["C537571"], "omim": ["208500", "615630", "615633", "611263", "613091", "613819", "614376", "263520", "614091", "615503", "266920"], "synonyms": []}
|
DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.
Individuals with DNMT3A overgrowth syndrome are often longer than normal at birth and are taller than their peers throughout life. Many affected individuals become overweight in late childhood or adolescence. They may also have an abnormally large head size (macrocephaly).
The characteristic facial appearance of individuals with DNMT3A overgrowth syndrome includes a round face; thick, horizontal eyebrows; and narrowed openings of the eyes (narrowed palpebral fissures). Additionally, the upper front teeth are often larger than normal.
Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to severe. Individuals may have features of autism spectrum disorder, which are characterized by impaired communication and socialization skills.
Individuals with DNMT3A overgrowth syndrome may have other signs and symptoms, including a rounded upper back that also curves to the side (kyphoscoliosis), heart defects, flat feet (pes planus), weak muscle tone (hypotonia), or joints that are loose and very flexible (hypermobile joints). Psychological disorders such as depression, anxiety, or obsessive-compulsive disorder can also occur in this disorder.
## Frequency
The prevalence of DNMT3A overgrowth syndrome is unknown. More than 20 affected individuals have been described in the medical literature.
## Causes
As its name suggests, mutations in the DNMT3A gene cause DNMT3A overgrowth syndrome. The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. DNA methylation is important in many cellular functions. These include regulating gene activity and certain chemical reactions and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA methyltransferase 3 alpha is particularly important for establishing DNA methylation patterns during development before birth.
Some DNMT3A gene mutations that cause DNMT3A overgrowth syndrome lead to a decrease in normal enzyme function. As a result, there is a reduction in DNA methylation, particularly affecting DNA methylation before birth. It is unclear how other mutations affect protein function. Decreased DNA methylation likely disrupts the normal regulation of important developmental genes, although how these change cause the specific features of DNMT3A overgrowth syndrome is unknown.
### Learn more about the gene associated with DNMT3A overgrowth syndrome
* DNMT3A
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
DNMT3A overgrowth syndrome
|
c4014545
| 27,859 |
medlineplus
|
https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome/
| 2021-01-27T08:24:50 |
{"omim": ["615879"], "synonyms": []}
|
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
14q22q23 microdeletion syndrome
|
c1864825
| 27,860 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=264200
| 2021-01-23T19:10:31 |
{"mesh": ["C535639"], "omim": ["609640"], "icd-10": ["Q93.5"], "synonyms": ["14q22-q23 microdeletion syndrome", "Del(14)(q22q23)", "Monosomy 14q22-q23", "Monosomy 14q22q23"]}
|
Cuboid fracture
Avulsion fracture of the right cuboid bone of the foot
FrequencyRare[1]
A cuboid fracture is a fracture of the cuboid bone of the foot. Diagnosis is by X-ray imaging, magnetic resonance imaging, or bone scan.[1] Treatment may be conservative or involve surgery, depending on the type of fracture.[1] They are rare.[1]
If the cuboid bone is broken, then it is common for other bones in the foot to be broken or dislocated as well.[2] Cuboid fractures are associated with Lisfranc injuries.[2]
## References[edit]
1. ^ a b c d Angoules, Antonios G.; Angoules, Nikolaos A.; Georgoudis, Michalis; Kapetanakis, Stylianos (2019-02-18). "Update on diagnosis and management of cuboid fractures". World Journal of Orthopedics. 10 (2): 71–80. doi:10.5312/wjo.v10.i2.71. ISSN 2218-5836. PMC 6379735. PMID 30788224.
2. ^ a b Walls, Ron; Hockberger, Robert; Gausche-Hill, Marianne (2017-03-09). Rosen's Emergency Medicine: Concepts and Clinical Practice. Elsevier Health Sciences. p. 650. ISBN 978-0-323-39016-3.
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[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
|
Cuboid fracture
|
c0347814
| 27,861 |
wikipedia
|
https://en.wikipedia.org/wiki/Cuboid_fracture
| 2021-01-18T19:06:12 |
{"wikidata": ["Q101244555"]}
|
Acute mast cell leukemia
Peripheral blood showing mast cell leukemia.
SpecialtyHematology and oncology
Mast cell leukemia is an extremely aggressive subtype of acute myeloid leukemia that usually occurs de novo but can, rarely, evolve from transformation of chronic myeloid leukemia into the more aggressive acute myeloid leukemia. In a small proportion of cases, acute mast cell leukemia may evolve from a more progressive form of systemic mastocytosis. The diagnosis of acute mast cell leukemia by the WHO criteria includes the requirement for a prevalence of 20% neoplastic mast cells in marrow and 10% in blood.[1] If the mast cells represent less than 10% of blood cells, the tumor is called "aleukemic" mast cell leukemia.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Cytochemistry
* 2.2 Tumor markers
* 2.3 Biochemistry
* 3 Treatment
* 4 Prognosis
* 5 References
* 6 External links
## Signs and symptoms[edit]
Acute mast cell leukemia is a rapidly progressive disorder with leukemic mast cells in blood and in large numbers in marrow. The common signs and symptoms include fever, headache, flushing of face and trunk.[2][3] The typical cutaneous mast cell infiltrates of urticaria pigmentosa are usually not present before, during, or after diagnosis in patients who have mast cell leukemia.[4] Symptoms include abdominal pain, bone pain, and peptic ulcer which are more prevalent than in other subtypes of acute myeloid leukemia. These former symptoms are due to release of a substance called histamine from neoplastic mast cells.[5] Enlargement of the liver and spleen, or hepatosplenomegaly is characteristic.[6] The mast cells release also many anticoagulants like heparin which can lead to serious bleeding. Liver and splenic dysfunction also contributes to hemorrhage.[7] Involvement of the bone can lead to osteoporosis. Abdominal ultrasound or computerized tomography (CT) scanning is used to look for hepatosplenomegaly and lymphadenopathy. Plain radiography and bone densitometry can be used to assess bone involvement and the presence of osteoporosis. Endoscopy and biopsy can be useful if gut involvement is suspected.[8]
## Diagnosis[edit]
### Cytochemistry[edit]
Cytochemical properties of the leukemic cells must be typical of mast cell derivation (presence of metachromatic granules staining with alpha-naphthyl chloroacetate esterase, but not with peroxidase).[6] Mast cell tryptase is an enzyme contained in mast cell granules. Mast cell numbers are best estimated by tryptase immunostaining because very poorly granulated cells may stain very weakly if at all for alpha-naphthol chloroacetate esterase.[1]
### Tumor markers[edit]
The leukemic cells usually are strongly positive for CD13, CD33, CD68, and CD117. Characteristically, basophil (e.g. CD11b, CD123) and monocyte markers (CD14, CD15) are absent. The cells usually express CD2 and CD25.[9] Malignant mast cells overexpress the anti-apoptosis gene, bcl-2.[10] A mutation called KIT mutation is detected in most patients.[11]
### Biochemistry[edit]
Total serum tryptase is elevated in mast cell leukemia. Normal total (alpha + beta) serum tryptase is approximately 6 micro g/L (range 0 to 11 micro g/L). Values of several hundred micro g/L are characteristic of mast cell leukemia.[12] Plasma and urinary histamine levels are frequently elevated in mast cell leukemia. Histidine decarboxylase (HDC) is the enzyme that catalyzes the reaction which produces histamine from histidine. Measurement of histidine carboxylase in the marrow cells of patients with mast cell leukemia is a very sensitive marker of mast cells.[13]
## Treatment[edit]
Immunoglobulin E (IgE) is important in mast cell function. Immunotherapy with anti-IgE immunoglobulin raised in sheep resulted in a transient decrease in the numbers of circulating mast cells in one patient with mast cell leukemia.[14] Although splenectomy has led to brief responses in patients with mast cell leukemia,[4][15] no firm conclusions as to the efficacy of this treatment are possible. Chemotherapy with combination of cytosine arabinoside and either idarubicin, daunomycin, or mitoxantrone as for acute myeloid leukemia has been used. Stem cell transplantation is an option, although no experience exists concerning responses and outcome.[11]
## Prognosis[edit]
Acute mast cell leukemia is extremely aggressive and has a grave prognosis. In most cases, multi-organ failure including bone marrow failure develops over weeks to months.[16] Median survival after diagnosis is only about 6 months.[4]
## References[edit]
1. ^ a b Lichtman MA, Segel GB (2005). "Uncommon phenotypes of acute myelogenous leukemia: basophilic, mast cell, eosinophilic, and myeloid dendritic cell subtypes: a review". Blood Cells Mol. Dis. 35 (3): 370–83. doi:10.1016/j.bcmd.2005.08.006. PMID 16203163.
2. ^ Daniel MT, Flandrin G, Bernard J (1975). "[Acute mast-cell leukemia. Cytochemical and ultrastructural study, about a particular case (author's transl)]". Nouv Rev Fr Hematol (in French). 15 (3): 319–32. PMID 54900.
3. ^ Le Cam MT, Wolkenstein P, Cosnes A, et al. (1997). "[Acute mast cell leukemia disclosed by vasomotor flushing]". Ann Dermatol Venereol (in French). 124 (9): 621–2. PMID 9739925.
4. ^ a b c Travis WD, Li CY, Hoagland HC, Travis LB, Banks PM (December 1986). "Mast cell leukemia: report of a case and review of the literature". Mayo Clin. Proc. 61 (12): 957–66. doi:10.1016/s0025-6196(12)62636-6. PMID 3095598.
5. ^ Valent P, Sperr WR, Samorapoompichit P, et al. (July 2001). "Myelomastocytic overlap syndromes: biology, criteria, and relationship to mastocytosis". Leuk. Res. 25 (7): 595–602. doi:10.1016/S0145-2126(01)00040-6. PMID 11377685.
6. ^ a b Kufe D, et al. (2000). Holland Frei Cancer Medicine (5th ed.). BC Decker.
7. ^ Cather JC, Menter MA (July 2000). "Red-brown skin lesions and pruritus". Proc (Bayl Univ Med Cent). 13 (3): 297–9. doi:10.1080/08998280.2000.11927693. PMC 1317061. PMID 16389403.
8. ^ Hoffbrand AV, Catovsky D, Tuddenham E (2005). Postgraduate Haematology (5th ed.). Blackwell.
9. ^ Valent P (October 1995). "1995 Mack-Forster Award Lecture. Review. Mast cell differentiation antigens: expression in normal and malignant cells and use for diagnostic purposes". Eur. J. Clin. Invest. 25 (10): 715–20. doi:10.1111/j.1365-2362.1995.tb01948.x. PMID 8557056.
10. ^ Cerveró C, Escribano L, San Miguel JF, et al. (March 1999). "Expression of Bcl-2 by human bone marrow mast cells and its overexpression in mast cell leukemia". Am. J. Hematol. 60 (3): 191–5. doi:10.1002/(SICI)1096-8652(199903)60:3<191::AID-AJH4>3.0.CO;2-Y. PMID 10072109.
11. ^ a b Ansell SM, ed. (2008). Rare Hematological Malignancies. Cancer Treatment & Research. Springer.
12. ^ Sperr WR, Jordan JH, Fiegl M, et al. (June 2002). "Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease". Int. Arch. Allergy Immunol. 128 (2): 136–41. doi:10.1159/000059404. PMID 12065914.
13. ^ Krauth MT, Agis H, Aichberger KJ, et al. (November 2004), "Histidine carboxylase (HDC) as novel marker of immature neoplastic mast cells in systemic mastocytosis", Blood, Abstracts of the American Society of Hematology 46th Annual Meeting. December 4–7, 2004, San Diego, California, USA, 104 (11 Pt 2): 272b, PMID 15562525
14. ^ Ribeiro I, Carvalho IR, Fontes M, et al. (July 1993). "Eosinophilic leukaemia with trisomy 8 and double gammopathy". J. Clin. Pathol. 46 (7): 672–3. doi:10.1136/jcp.46.7.672. PMC 501401. PMID 8157759.
15. ^ Dalton R, Chan L, Batten E, Eridani S (October 1986). "Mast cell leukaemia: evidence for bone marrow origin of the pathological clone". Br. J. Haematol. 64 (2): 397–406. doi:10.1111/j.1365-2141.1986.tb04133.x. PMID 3096368.
16. ^ Hoffman R, Benz E, Shattil S, Furie B, Cohen H (2004). Hematology: Basic Principles and Practice (4th ed.). Churchill Livingstone.
## External links[edit]
Classification
D
* ICD-10: C94.3
* ICD-9-CM: 207.8
* ICD-O: M9742/3
* MeSH: D007946
* DiseasesDB: 30102
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Mast cell leukemia
|
c0023461
| 27,862 |
wikipedia
|
https://en.wikipedia.org/wiki/Mast_cell_leukemia
| 2021-01-18T19:03:34 |
{"mesh": ["D007946"], "umls": ["C0023461"], "icd-9": ["207.8"], "icd-10": ["C94.3"], "orphanet": ["98851"], "wikidata": ["Q6784873"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive microcephaly and chorioretinopathy-3 (MCCRP3) is caused by compound heterozygous mutation in the TUBGCP4 gene (609610) on chromosome 15q15.
For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270).
Clinical Features
Scheidecker et al. (2015) reported 4 children from 3 unrelated French families with congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Fundus examination showed multiple punched-out retinal lesions. More variable ocular anomalies included microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients had mildly delayed development and mild learning difficulties, but no other significant neurologic abnormalities. Brain MRI was normal in 3 patients; 1 patient had a thin corpus callosum. Two sibs had mild dysmorphic facial features, including downslanting palpebral fissures, large ears, and mild retrognathia.
Inheritance
The transmission pattern of MCCRP3 in the families reported by Scheidecker et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 French children from 3 unrelated families with autosomal recessive microcephaly and chorioretinopathy-3, Scheidecker et al. (2015) identified compound heterozygous mutations in the TUBGCP4 gene (609610.0001-609610.0004). Mutations in the first 2 families were found by exome sequencing; mutations in the third family were found by Sanger sequencing of 12 additional French patients with a similar disorder. Detailed studies of fibroblasts derived from 1 patient showed reduced amounts of both TUBGCP4 protein and other components of the gamma-tubulin complex. Patient cells showed reduced levels of microtubule nucleation after depolymerization, abnormal microtubule organization, changes in cell shape, and abnormally shaped nuclei indicating aneuploid cells resulting from defects in cytokinesis late in mitosis.
Animal Model
Scheidecker et al. (2015) found that morpholino knockdown of the tubgcp4 ortholog in zebrafish embryos resulted in smaller head and eyes as well as shortened body axis in most embryos compared to controls. The retina of mutant zebrafish was punctuated with rounded cells and showed cone and rod photoreceptor changes suggestive of impaired differentiation.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly Face \- Dysmorphic facial features (1 family) Eyes \- Chorioretinopathy \- Punched-out appearance of the retina \- Microphthalmia \- Nystagmus \- Decreased visual acuity \- Poor electroretinogram response NEUROLOGIC Central Nervous System \- Delayed development, mild \- Learning difficulties MISCELLANEOUS \- Onset at birth \- Three unrelated French families have been reported (last curated April 2015) MOLECULAR BASIS \- Caused by mutation in the tubulin-gamma complex-associated protein 4 gene (TUBGCP4, 609610.0001 ) ▲ 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
|
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
|
c3502492
| 27,863 |
omim
|
https://www.omim.org/entry/616335
| 2019-09-22T15:49:11 |
{"doid": ["0080107"], "mesh": ["C565379"], "omim": ["616335"], "orphanet": ["2518"]}
|
Example of sweet itch sores on a Tunisian pony.
Also known as Queensland Itch, Seasonal Recurrent Dermatitis (SSRD) , Summer Itch or more technically, Culicoides Hypersensitivity.
Sweet Itch is a medical condition in equines caused by an allergic response to the bites of Culicoides midges. It may be found in any horses and ponies, especially in the warmer regions. It may also occur, too, in other equines.[1] It is also found in Canada, Australia, the US and many other parts of the world.[2]
## Contents
* 1 Causes
* 2 Symptoms
* 3 Treatment and prevention
* 4 See also
* 5 References
* 6 External links
## Causes[edit]
A hypersensitivity reaction to specific allergens (protein molecules causing an extreme immune response in sensitised individuals) in the saliva of Culicoides midges. There are multiple allergens involved,[3] although some workers claim that the larger proteins (of molecular weight 65kDa) are the most important.[4] These allergens appear to be cross-reactive across many species of Culicoides \- i.e. many different varieties of midges produce similar allergens, giving the same effects upon horses.[5]
The hypersensitivity response is mediated by IgE, an antibody produced by the horse's immune system which binds the allergens, causing a cascade production of histamine and cytokines which make the horse's skin inflamed and itchy. Of these, histamine appears the most important in the initial phase of reaction.[6]
## Symptoms[edit]
* The allergic reaction develops at the site where the insects feed
* The majority of affected horses show skin lesions affecting the mane and tail and dorsal midline.
* Ventral midline symptoms may also occur.
* Lesions around the ears and head are also common.
* These lesions are characterised by intense pruritus (itching), which results in rubbing and considerable self-trauma. This damage is cause by the horse violently rubbing itself against objects, and causes:
* broken hairs
* broken and sometimes bleeding skin
* bald patches.
* Secondary infections may result[7][8]
## Treatment and prevention[edit]
Few treatments are fully efficacious once lesions have appeared. The only effective form of treatment is preventative - i.e. prevent further insect bites - so these techniques will also be discussed here. Treatments generally fall into one of the following categories:
1) Insecticides and Repellents: These may be applied to the horse or its environment. The most commonly used and effective are permethrins.[9] and benzyl benzoate[10] Citronella has been used, with variable effect. Some sources advocate draining of any stagnant water or pools, to reduce the local breeding potential of the insects.[11] Midge numbers are often larger near water sources, for example ponds, bogs, and slow moving water. Moving the horse away from these areas may help to prevent further problems.
Fly mask
2) Barrier Techniques: Rugs etc., that prevent flies and midges settling on the animal's skin to bite. These include "Boett Rugs" and fly masks. In addition, thin screens may be placed over stable doors and windows to exclude biting insects.[12] Stabling the horse at times of day when the midges are most prevalent is also quite effective.
3) Immunotherapy: A wide variety immunotherapy and desensitisation protocols have been trialled in attempts to reduce or modify the immune response, with considerable success rates. More research is ongoing, and first products are already marketed.
4) Nutritional supplements: Various supplements may be effective in individuals, including fatty acid supplementation and linseed oil. However, although owners perceived an improvement, this was not bourne out by objective statistical analysis.[13]
5) Symptomatic Control: Control of symptoms to some degree can be achieved with antihistamines (especially hydroxyzine,[14] and with corticosteroids, although the potential side effects (e.g. laminitis, immune suppression) make this a less preferred option.[15] In addition, antibiotics may be required to manage any secondary infection.
6) Alternative Medicines: A wide variety of herbal, homeopathic and other alternative remedies have been suggested. Among the natural remedies suggested are sulfur, wild geranium (as the base for a shampoo), Lavender oil, Aloe vera (to reduce the itching).[16]
Overall, the wide variety of treatments proposed leads to the conclusion that no one method is universally effective.
## See also[edit]
* Ceratopogonidae (The family of which Culicoides is a member)
* Culicoides imicola (species of midge)
* Culicoides impunctatus (species of midge)
* Veterinary parasitology
## References[edit]
1. ^ Queensland Itch by Dr Carl Eden BVM&S MRCVS Retrieved 2011-2-6
2. ^ GS Anderson, P Belton, & N Kleider (1988) "The Hypersensitivity of Horses to Culicoides Bites in British Columbia", Can Vet J. 29(9): 718–723
3. ^ W. Hellberga, A.D. Wilsonb, P. Mellorc, M.G. Doherra, S. Torsteinsdottird, A. Zurbriggena, T. Jungie and E. Marti (2007) "Equine insect bite hypersensitivity: Immunoblot analysis of IgE and IgG subclass responses to Culicoides nubeculosus salivary gland extract", Veterinary Immunology and Immunopathology Volume 113, Issues 1-2, Pages 99-112
4. ^ E. Ferroglio, P. Pregel, A. Accossato, I. Taricco, E. Bollo, L. Rossi, A. Trisciuoglio (2006) "Equine Culicoides Hypersensitivity: Evaluation of a Skin Test and of Humoral Response", Journal of Veterinary Medicine, Series A 53 (1), 30–33
5. ^ Langner, KFA, Darpel, KE, Denison, E, Drolet, BS, Leibold, W, Mellor, PS, Mertens, PPC, Nimtz, M, Greiser-Wilke, I, (2007) "Collection and Analysis of Salivary Proteins from the Biting Midge Culicoides nubeculosus (Diptera: Ceratopogonidae)", Journal of Medical Entomology, Volume 44, Number 2, March 2007, pp. 238-248(11)
6. ^ A. P. Foster, J. McKelvie, and F. M. Cunningham (1998) "Inhibition of antigen-induced cutaneous responses of ponies with insect hypersensitivity by the histamine-1 receptor antagonist chlorpheniramine", The Veterinary Record, Vol 143, Issue 7, 189-193
7. ^ Animal Health TrustEquine Clinics
8. ^ PT Colahan, IG Mayhew, AM Merrit & JN Moore, Manual of Equine Medicine and Surgery, Copyright Mosby Inc (1999) (pp. 474-475)
9. ^ PT Colahan, IG Mayhew, AM Merrit & JN Moore, Manual of Equine Medicine and Surgery, Copyright Mosby Inc (1999) (pp. 474)
10. ^ J Littlewood (1999) "Control of ectoparasites in horses", In Practice (BVA Publications Ltd) 21: 418-424
11. ^ PT Colahan, IG Mayhew, AM Merrit & JN Moore, Manual of Equine Medicine and Surgery, Copyright Mosby Inc (1999) (p. 475)
12. ^ RR Pascoe, DC Knottenbelt, Manual of Equine Dermatology Published 1999, Elsevier Health Sciences (p. 131)
13. ^ Friberg, Logas (1999) "Treatment of Culicoides hypersensitive horses with high-dose n-3 fatty acids: a double-blinded crossover study" Veterinary Dermatology 10 (2), 117–122
14. ^ PT Colahan, IG Mayhew, AM Merrit & JN Moore, Manual of Equine Medicine and Surgery, Copyright Mosby Inc (1999) (p. 475)
15. ^ RJ Rose & DR Hodgson, Manual of Equine Practice Copyright WB Saunders (2000) (p. 482)
16. ^ The Holistic Horse
PonyGalaxy Detailed Information On SSRD
## External links[edit]
* British Horse Society Sweet Itch Datasheet
* Detailed Information on Sweet Itch and its Causes
* Information about what Sweet Itch is, Causes and Treatment
* The Sweet Itch Help Centre
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Sweet itch
|
None
| 27,864 |
wikipedia
|
https://en.wikipedia.org/wiki/Sweet_itch
| 2021-01-18T19:07:19 |
{"wikidata": ["Q2300515"]}
|
A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Malaria
|
c0024530
| 27,865 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=673
| 2021-01-23T18:22:47 |
{"gard": ["6961"], "mesh": ["D008288"], "omim": ["611162"], "umls": ["C0024530"], "icd-10": ["B50.0", "B50.8", "B50.9", "B51.0", "B51.8", "B51.9", "B52.0", "B52.8", "B52.9", "B53.0", "B53.1", "B53.8", "B54"]}
|
## Description
Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).
Clinical Features
Shun-Shin (1954) described 8 affected individuals in 3 generations of a family living on the Island of Rodriques (near the island of Mauritius). There was 1 instance of a 'skipped generation.' The web extended across the cubital fossa from the distal third of the upper arm to the proximal third of the forearm. Elbow extension was limited to 90 degrees, although flexion was unimpeded. Radiologically, posterior subluxation of the radial head (179200) and maldevelopment of the radioulnar joint were demonstrated. The same disorder was reported by Zahrt (1903) in a father and son. An isolated example was noted by Schramm (1939-40).
Wallis et al. (1988) provided follow-up on the family reported by Shun-Shin (1954). Eleven members in 5 generations were affected.
In commenting on the family reported by Wallis et al. (1988), Hall (1990) noted that the great-great-grandfather, who was designated as the 'founder of the dynasty,' was the only one of 11 affected persons on whom information was available to have unilateral involvement. Hall (1990) suggested that he had both somatic and germline mosaicism and was indeed the individual in whom the new mutation occurred during his embryologic development. Hall (1988) had emphasized the importance of somatic mutation, and stated that this case raised the question of whether most mutations may in fact occur during mitosis rather than in meiosis.
Inheritance
The presence of affected persons of both sexes in 5 generations of the family reported by Wallis et al. (1988) indicated that the antecubital pterygium syndrome is inherited as an autosomal dominant trait.
INHERITANCE \- Autosomal dominant SKELETAL Limbs \- Posterior subluxation of radial head \- Maldevelopment of radioulnar joint \- Limited elbow extension with unimpeded elbow flexion SKIN, NAILS, & HAIR Skin \- Antecubial webbing MISCELLANEOUS \- Most reported cases come from the island of Mauritius or nearby islands ▲ 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
|
PTERYGIUM, ANTECUBITAL
|
c1867439
| 27,866 |
omim
|
https://www.omim.org/entry/178200
| 2019-09-22T16:35:38 |
{"mesh": ["C566738"], "omim": ["178200"], "orphanet": ["2987"]}
|
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).
Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs.
Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanelles).
As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.
## Frequency
Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.
## Causes
Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth.
The renin-angiotensin system consists of several proteins that are involved in a series of steps to produce a protein called angiotensin II. In the first step, the renin protein (produced from the REN gene) converts a protein called angiotensinogen (produced from the AGT gene) to angiotensin I. In the next step, angiotensin-converting enzyme (produced from the ACE gene) converts angiotensin I to angiotensin II. Angiotensin II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating chemical signaling.
By binding to the AT1 receptor, angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure, which delivers oxygen to the developing tissues during fetal growth, is required for normal development of the kidneys (particularly of the proximal tubules) and other tissues.
Mutations in the ACE, AGT, AGTR1, or REN gene impair the production or function of angiotensin II, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the fetal tissues do not get enough oxygen during development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis. Hypoperfusion also causes the skull abnormalities found in individuals with this condition.
Medications that block the activity of the angiotensin-converting enzyme or the AT1 receptor are used to treat high blood pressure. Because these drugs impair the renin-angiotensin system, they can cause an acquired (non-inherited) form of renal tubular dysgenesis in fetuses of pregnant women who take them. Acquired renal tubular dysgenesis can also result from other conditions that cause renal hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome.
### Learn more about the genes associated with Renal tubular dysgenesis
* ACE
* AGT
* AGTR1
* REN
## Inheritance Pattern
Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected 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
|
Renal tubular dysgenesis
|
c0266313
| 27,867 |
medlineplus
|
https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis/
| 2021-01-27T08:24:41 |
{"gard": ["379"], "mesh": ["C537048"], "omim": ["267430"], "synonyms": []}
|
Motion sickness induced by air travel
Airsickness
SpecialtyEmergency medicine
Airsickness is a sensation which is induced by air travel.[1] It is a specific form of motion sickness, and is considered a normal response in healthy individuals. Airsickness occurs when the central nervous system receives conflicting messages from the body (including the inner ear, eyes and muscles) affecting balance and equilibrium. Whereas commercial airline passengers may simply feel poorly, the effect of airsickness on military aircrew may lead to a decrement in performance and adversely affect the mission.[2]
The inner ear is particularly important in the maintenance of balance and equilibrium because it contains sensors for both angular (rotational) and linear motion. Airsickness is usually a combination of spatial disorientation, nausea and vomiting.[3]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Prevention
* 4 Treatment
* 4.1 Medication
* 4.2 Non-medication based
* 4.3 Alternative medicine
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Common symptoms of airsickness include:
Nausea, vomiting, vertigo, loss of appetite, cold sweating, skin pallor, difficulty concentrating, confusion, drowsiness, headache, and increased fatigue.[1] Severe airsickness may cause a person to become completely incapacitated.[1][3]
## Risk factors[edit]
The following factors increase some people's susceptibility to airsickness:
* Fatigue, stress and anxiety are some factors that can increase susceptibility to motion sickness of any type.
* The use of alcohol, drugs, and medications may also contribute to airsickness.
* Additionally, airsickness is more common in women (especially during menstruation or pregnancy), young children, and individuals prone to other types of motion sickness.[4]
* Although airsickness is uncommon among experienced pilots, it does occur with some frequency in student pilots.[3]
## Prevention[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2007) (Learn how and when to remove this template message)
Travelers who are susceptible to motion sickness can minimize symptoms by:
* Choosing a window seat with a view of the ground or of lower clouds, such that motion can be detected. This will not work if the plane is flown in the clouds for a long duration.
* Choosing seats with the smoothest ride in regards to pitch (the seats over the wings in an airplane). This may not be sufficient for sensitive individuals who need to see ground movement.[1]
* Sitting facing forward while focusing on distant objects rather than trying to read or look at something inside the airplane.
* Eating dry crackers, olives or suck on a lemon, to dry out the mouth, lessening nausea.
* Drinking a carbonated beverage.
## Treatment[edit]
### Medication[edit]
Medications that may alleviate the symptoms of airsickness[1] include:
* meclozine
* dimenhydrinate[5]
* diphenhydramine
* scopolamine (available in both patch and oral form).[6]
Pilots who are susceptible to airsickness are usually advised not to take anti-motion sickness medications (prescription or over-the-counter).[1][3] These medications can make one drowsy or affect brain functions in other ways.
### Non-medication based[edit]
A method to increase pilot resistance to airsickness consists of repetitive exposure to the flying conditions that initially resulted in airsickness. In other words, repeated exposure to the flight environment decreases an individual's susceptibility to subsequent airsickness.[1] Recently, several devices have been introduced that are intended to reduce motion sickness through stimulation of various body parts (usually the wrist).[7]
### Alternative medicine[edit]
Ginger.[8]
## See also[edit]
* Acclimatization
* Airsickness bag
* Motion sickness
* Space adaptation syndrome
## References[edit]
1. ^ a b c d e f g Benson AJ (2002). "35". Motion Sickness. In: Medical Aspects of Harsh Environments. 2. Washington, DC: Borden Institute. Archived from the original on 2009-01-11. Retrieved 2008-05-09.
2. ^ Samuel, O., & Tal, D. (2015). Airsickness: Etiology, Treatment, and Clinical Importance—A Review. Military medicine, 180(11), 1135-1139.
3. ^ a b c d Antunano, Melchor J., M.D. Medical Facts for Pilots (pdf) Federal Aviation Administration, Civil Aerospace Medical Institute. Publication: AM-400-03/1.
4. ^ Hain, Timothy C., M.D. (2006) Motion Sickness.
5. ^ Weinstein SE, Stern RM (October 1997). "Comparison of marezine and dramamine in preventing symptoms of motion sickness". Aviat Space Environ Med. 68 (10): 890–4. PMID 9327113.
6. ^ Spinks, Anneliese; Wasiak, Jason (2011-06-15). "Scopolamine (hyoscine) for preventing and treating motion sickness". The Cochrane Database of Systematic Reviews (6): CD002851. doi:10.1002/14651858.CD002851.pub4. hdl:10072/19480. ISSN 1469-493X. PMID 21678338.
7. ^ Bertolucci LE, DiDario B (December 1995). "Efficacy of a portable acustimulation device in controlling seasickness". Aviat Space Environ Med. 66 (12): 1155–8. PMID 8747609.
8. ^ Brainard A, Gresham C (2014). "Prevention and treatment of motion sickness". Am Fam Physician. 90 (1): 41–6. PMID 25077501.
## External links[edit]
Classification
D
* ICD-10: T75.3
* ICD-9-CM: 994.6
* v
* t
* e
Consequences of external causes
Temperature
Elevated
Hyperthermia
Heat syncope
Reduced
Hypothermia
Immersion foot syndromes
Trench foot
Tropical immersion foot
Warm water immersion foot
Chilblains
Frostbite
Aerosol burn
Cold intolerance
Acrocyanosis
Erythrocyanosis crurum
Radiation
Radiation poisoning
Radiation burn
Chronic radiation keratosis
Eosinophilic, polymorphic, and pruritic eruption associated with radiotherapy
Radiation acne
Radiation-induced cancer
Radiation recall reaction
Radiation-induced erythema multiforme
Radiation-induced hypertrophic scar
Radiation-induced keloid
Radiation-induced morphea
Air
* Hypoxia/Asphyxia
* Barotrauma
* Aerosinusitis
* Decompression sickness
* High altitude
* Altitude sickness
* Chronic mountain sickness
* Death zone
* HAPE
* HACE
Food
* Starvation
Maltreatment
* Physical abuse
* Sexual abuse
* Psychological abuse
Travel
* Motion sickness
* Seasickness
* Airsickness
* Space adaptation syndrome
Adverse effect
* Hypersensitivity
* Anaphylaxis
* Angioedema
* Allergy
* Arthus reaction
* Adverse drug reaction
Other
* Electrical injury
* Drowning
* Lightning injuries
Ungrouped
skin conditions
resulting from
physical factors
* Dermatosis neglecta
* Pinch mark
* Pseudoverrucous papules and nodules
* Sclerosing lymphangitis
* Tropical anhidrotic asthenia
* UV-sensitive syndrome
environmental skin conditions
Electrical burn
frictional/traumatic/sports
Black heel and palm
Equestrian perniosis
Jogger's nipple
Pulling boat hands
Runner's rump
Surfer's knots
Tennis toe
Vibration white finger
Weathering nodule of ear
Wrestler's ear
Coral cut
Painful fat herniation
Uranium dermatosis
iv use
Skin pop scar
Skin track
Slap mark
Pseudoacanthosis nigricans
Narcotic dermopathy
* v
* t
* e
Motion sickness
Types
* Airsickness
* Seasickness
* Simulator sickness
* Ski sickness
* Space adaptation syndrome
* Virtual reality sickness
Medicine treatment
* Bonine
* Cinnarizine
* Dramamine
* Marezine
* Promethazine
* Transdermscop
Related
* Bárány chair
* Sickness bag
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Airsickness
|
c0001882
| 27,868 |
wikipedia
|
https://en.wikipedia.org/wiki/Airsickness
| 2021-01-18T18:44:23 |
{"mesh": ["D009041"], "icd-9": ["994.6"], "icd-10": ["T75.3"], "wikidata": ["Q4699003"]}
|
Microvenular hemangioma
Other namesMicrocapillary hemangioma[1])
SpecialtyOncology
Microvenular hemangioma is an acquired benign vascular tumor that presents as an asymptomatic, slowly growing, 0.5- to 2.0 cm reddish lesion on the forearms or other sites of young to middle-aged adults.[2]
## See also[edit]
* 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.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 596. ISBN 978-0-7216-2921-6.
## External links[edit]
Classification
D
* ICD-10: D18.0
* ICD-O: M9120/0
* 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
This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Microvenular hemangioma
|
c1304506
| 27,869 |
wikipedia
|
https://en.wikipedia.org/wiki/Microvenular_hemangioma
| 2021-01-18T19:10:52 |
{"umls": ["C1304506"], "icd-10": ["D18.0"], "wikidata": ["Q6840466"]}
|
Tay–Sachs disease
Other namesGM2 gangliosidosis, hexosaminidase A deficiency[1]
Cherry-red spot as seen in the retina in Tay–Sachs disease. The fovea's center appears bright red because it is surrounded by a whiter than usual area.
SpecialtyMedical genetics
SymptomsInitially: Decreased ability to turn over, sit, or crawl[1]
Later: Seizures, hearing loss, inability to move[1]
Usual onsetThree to six months of age[1]
DurationLong term[2]
TypesInfantile, juvenile, late-onset[2]
CausesGenetic (autosomal recessive)[1]
Diagnostic methodTesting blood hexosaminidase A levels, genetic testing[2]
Differential diagnosisSandhoff disease, Leigh syndrome, neuronal ceroid lipofuscinoses[2]
TreatmentSupportive care, psychosocial support[2]
PrognosisDeath often occurs in early childhood[1]
FrequencyRare in the general population[1]
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.[1] The most common form is infantile Tay–Sachs disease which becomes apparent around three to six months of age, with the baby losing the ability to turn over, sit, or crawl.[1] This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of four.[1] Less commonly, the disease may occur in later childhood or adulthood (juvenile or late-onset).[1] These forms tend to be less severe,[1] but the juvenile form typically results in death by age 15.[3]
Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes for a subunit of the hexosaminidase enzyme known as hexosaminidase A.[1] It is inherited from a person's parents in an autosomal recessive manner.[1] The mutation disrupts the activity of the enzyme, which results in the buildup of the molecule GM2 ganglioside within cells, leading to toxicity.[1] Diagnosis may be supported by measuring the blood hexosaminidase A level or genetic testing.[2] Tay–Sachs disease is a type of GM2 gangliosidosis and sphingolipidosis.[4]
The treatment of Tay–Sachs disease is supportive in nature.[2] This may involve multiple specialities as well as psychosocial support for the family.[2] The disease is rare in the general population.[1] In Ashkenazi Jews, French Canadians of southeastern Quebec, the Old Order Amish of Pennsylvania, and the Cajuns of southern Louisiana, the condition is more common.[2][1] Approximately 1 in 3,600 Ashkenazi Jews at birth are affected.[2]
The disease is named after British ophthalmologist Waren Tay, who in 1881 first described a symptomatic red spot on the retina of the eye; and American neurologist Bernard Sachs, who described in 1887 the cellular changes and noted an increased rate of disease in Ashkenazi Jews.[5] Carriers of a single Tay–Sachs allele are typically normal.[2] It has been hypothesized that being a carrier may confer protection from tuberculosis, explaining the persistence of the allele in certain populations.[6] Researchers are looking at gene therapy or enzyme replacement therapy as possible treatments.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Infantile
* 1.2 Juvenile
* 1.3 Late-onset
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Prevention
* 6 Management
* 7 Outcomes
* 8 Epidemiology
* 9 History
* 10 Society and culture
* 11 Research directions
* 11.1 Enzyme replacement therapy
* 11.2 Jacob sheep model
* 11.3 Substrate reduction therapy
* 11.4 Increasing β-hexosaminidase A activity
* 11.5 Cord blood transplant
* 12 References
* 13 External links
## Signs and symptoms[edit]
Tay–Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimuli, known as the "startle response". There may also be listlessness or muscle stiffness (hypertonia). The disease is classified into several forms, which are differentiated based on the onset age of neurological symptoms.[7][8]
### Infantile[edit]
Infants with Tay–Sachs disease appear to develop normally for the first six months after birth. Then, as neurons become distended with GM2 gangliosides, a relentless deterioration of mental and physical abilities begins. The child may become blind, deaf, unable to swallow, atrophied, and paralytic. Death usually occurs before the age of four.[7]
### Juvenile[edit]
Juvenile Tay–Sachs disease is rarer than other forms of Tay–Sachs, and usually is initially seen in children between two and ten years old. People with Tay–Sachs disease experience cognitive and motor skill deterioration, dysarthria, dysphagia, ataxia, and spasticity.[9] Death usually occurs between the ages of five and fifteen years.[3]
### Late-onset[edit]
A rare form of this disease, known as Adult-Onset or Late-Onset Tay–Sachs disease, usually has its first symptoms during the 30s or 40s. In contrast to the other forms, late-onset Tay–Sachs disease is usually not fatal as the effects can stop progressing. It is frequently misdiagnosed. It is characterized by unsteadiness of gait and progressive neurological deterioration. Symptoms of late-onset Tay–Sachs – which typically begin to be seen in adolescence or early adulthood – include speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, particularly a schizophrenia-like psychosis.[10] People with late-onset Tay–Sachs may become full-time wheelchair users in adulthood.
Until the 1970s and 1980s, when the disease's molecular genetics became known, the juvenile and adult forms of the disease were not always recognized as variants of Tay–Sachs disease. Post-infantile Tay–Sachs was often misdiagnosed as another neurological disorder, such as Friedreich's ataxia.[11]
## Genetics[edit]
Tay–Sachs disease is inherited in an autosomal recessive pattern.
The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24.
Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. The affected child would have received a mutated copy of the gene from each parent.[7]
Tay–Sachs results from mutations in the HEXA gene on chromosome 15, which encodes the alpha-subunit of beta-N-acetylhexosaminidase A, a lysosomal enzyme. By 2000, more than 100 different mutations had been identified in the human HEXA gene.[12] These mutations have included single base insertions and deletions, splice phase mutations, missense mutations, and other more complex patterns. Each of these mutations alters the gene's protein product (i.e., the enzyme), sometimes severely inhibiting its function.[13] In recent years, population studies and pedigree analysis have shown how such mutations arise and spread within small founder populations. Initial research focused on several such founder populations:
* Ashkenazi Jews. A four base pair insertion in exon 11 (1278insTATC) results in an altered reading frame for the HEXA gene. This mutation is the most prevalent mutation in the Ashkenazi Jewish population, and leads to the infantile form of Tay–Sachs disease.[14]
* Cajuns. The same 1278insTATC mutation found among Ashkenazi Jews occurs in the Cajun population of southern Louisiana. Researchers have traced the ancestry of carriers from Louisiana families back to a single founder couple – not known to be Jewish – who lived in France in the 18th century.[15]
* French Canadians. Two mutations, unrelated to the Ashkenazi/Cajun mutation, are absent in France but common among certain French-Canadian communities living in southeastern Quebec and Acadians from the Province of New Brunswick. Pedigree analysis suggests the mutations were uncommon before the late 17th century.[16][17]
In the 1960s and early 1970s, when the biochemical basis of Tay–Sachs disease was first becoming known, no mutations had been sequenced directly for genetic diseases. Researchers of that era did not yet know how common polymorphisms would prove to be. The "Jewish Fur Trader Hypothesis," with its implication that a single mutation must have spread from one population into another, reflected the knowledge at the time.[18] Subsequent research, however, has proven that a large variety of different HEXA mutations can cause the disease. Because Tay–Sachs was one of the first genetic disorders for which widespread genetic screening was possible, it is one of the first genetic disorders in which the prevalence of compound heterozygosity has been demonstrated.[19]
Compound heterozygosity ultimately explains the disease's variability, including the late-onset forms. The disease can potentially result from the inheritance of two unrelated mutations in the HEXA gene, one from each parent. Classic infantile Tay–Sachs disease results when a child has inherited mutations from both parents that completely stop the biodegradation of gangliosides. Late onset forms occur due to the diverse mutation base – people with Tay–Sachs disease may technically be heterozygotes, with two differing HEXA mutations that both inactivate, alter, or inhibit enzyme activity. When a patient has at least one HEXA copy that still enables some level of hexosaminidase A activity, a later onset disease form occurs. When disease occurs because of two unrelated mutations, the patient is said to be a compound heterozygote.[20]
Heterozygous carriers (individuals who inherit one mutant allele) show abnormal enzyme activity but manifest no disease symptoms. This phenomenon is called dominance; the biochemical reason for wild-type alleles' dominance over nonfunctional mutant alleles in inborn errors of metabolism comes from how enzymes function. Enzymes are protein catalysts for chemical reactions; as catalysts, they speed up reactions without being used up in the process, so only small enzyme quantities are required to carry out a reaction. Someone homozygous for a nonfunctional mutation in the enzyme-encoding gene has little or no enzyme activity, so will manifest the abnormal phenotype. A heterozygote (heterozygous individual) has at least half of the normal enzyme activity level, due to expression of the wild-type allele. This level is normally enough to enable normal function and thus prevent phenotypic expression.[21]
## Pathophysiology[edit]
Tay–Sachs disease is caused by insufficient activity of the enzyme hexosaminidase A. Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks down sphingolipids. When hexosaminidase A is no longer functioning properly, the lipids accumulate in the brain and interfere with normal biological processes. Hexosaminidase A specifically breaks down fatty acid derivatives called gangliosides; these are made and biodegraded rapidly in early life as the brain develops. Patients with and carriers of Tay–Sachs can be identified by a simple blood test that measures hexosaminidase A activity.[7]
The hydrolysis of GM2-ganglioside requires three proteins. Two of them are subunits of hexosaminidase A; the third is a small glycolipid transport protein, the GM2 activator protein (GM2A), which acts as a substrate-specific cofactor for the enzyme. Deficiency in any one of these proteins leads to ganglioside storage, primarily in the lysosomes of neurons. Tay–Sachs disease (along with AB-variant GM2-gangliosidosis and Sandhoff disease) occurs because a mutation inherited from both parents deactivates or inhibits this process. Most Tay–Sachs mutations probably do not directly affect protein functional elements (e.g., the active site). Instead, they cause incorrect folding (disrupting function) or disable intracellular transport.[22]
## Diagnosis[edit]
In patients with a clinical suspicion for Tay–Sachs disease, with any age of onset, the initial testing involves an enzyme assay to measure the activity of hexosaminidase in serum, fibroblasts, or leukocytes. Total hexosaminidase enzyme activity is decreased in individuals with Tay–Sachs as is the percentage of hexosaminidase A. After confirmation of decreased enzyme activity in an individual, confirmation by molecular analysis can be pursued.[23] All patients with infantile onset Tay–Sachs disease have a "cherry red" macula in the retina, easily observable by a physician using an ophthalmoscope.[7][24] This red spot is a retinal area that appears red because of gangliosides in the surrounding retinal ganglion cells. The choroidal circulation is showing through "red" in this foveal region where all retinal ganglion cells are pushed aside to increase visual acuity. Thus, this cherry-red spot is the only normal part of the retina; it shows up in contrast to the rest of the retina. Microscopic analysis of the retinal neurons shows they are distended from excess ganglioside storage.[25] Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann–Pick disease, and Sandhoff disease), hepatosplenomegaly (liver and spleen enlargement) is not seen in Tay–Sachs.[26]
## Prevention[edit]
Main article: Prevention of Tay–Sachs disease
Three main approaches have been used to prevent or reduce the incidence of Tay–Sachs:
* Prenatal diagnosis. If both parents are identified as carriers, prenatal genetic testing can determine whether the fetus has inherited a defective gene copy from both parents.[27] Chorionic villus sampling (CVS), the most common form of prenatal diagnosis, can be performed between 10 and 14 weeks of gestation. Amniocentesis is usually performed at 15–18 weeks. These procedures have risks of miscarriage of 1% or less.[28][29]
* Preimplantation genetic diagnosis. By retrieving the mother's eggs for in vitro fertilization, it is possible to test the embryo for the disorder prior to implantation. Healthy embryos are then selected and transferred into the mother's womb, while unhealthy embryos are discarded. In addition to Tay–Sachs disease, preimplantation genetic diagnosis has been used to prevent cystic fibrosis and sickle cell anemia among other genetic disorders.[30]
* Mate selection. In Orthodox Jewish circles, the organization Dor Yeshorim carries out an anonymous screening program so that carriers for Tay–Sachs and other genetic disorders can avoid marrying each other.[31]
## Management[edit]
As of 2010 there was no treatment that addressed the cause of Tay–Sachs disease or could slow its progression; people receive supportive care to ease the symptoms and extend life by reducing the chance of contracting infections.[32] Infants are given feeding tubes when they can no longer swallow.[33] In late-onset Tay–Sachs, medication (e.g., lithium for depression) can sometimes control psychiatric symptoms and seizures, although some medications (e.g., tricyclic antidepressants, phenothiazines, haloperidol, and risperidone) are associated with significant adverse effects.[20][34]
## Outcomes[edit]
As of 2010, even with the best care, children with infantile Tay–Sachs disease usually die by the age of 4. Children with the juvenile form are likely to die from the ages 5–15, while those with the adult form will probably not be affected.[32]
## Epidemiology[edit]
Founder effects occur when a small number of individuals from a larger population establish a new population. In this illustration, the original population is on the left with three possible founder populations on the right. Two of the three founder populations are genetically distinct from the original population.
Ashkenazi Jews have a high incidence of Tay–Sachs and other lipid storage diseases. In the United States, about 1 in 27 to 1 in 30 Ashkenazi Jews is a recessive carrier. The disease incidence is about 1 in every 3,500 newborn among Ashkenazi Jews.[35] French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Irish Americans have a 1 in 50 chance of being a carrier.[36] In the general population, the incidence of carriers as heterozygotes is about 1 in 300.[8] The incidence is approximately 1 in 320,000 newborns in the general population in United States.[37]
Three general classes of theories have been proposed to explain the high frequency of Tay–Sachs carriers in the Ashkenazi Jewish population:
* Heterozygote advantage.[38] When applied to a particular allele, this theory posits that mutation carriers have a selective advantage, perhaps in a particular environment.[39]
* Reproductive compensation. Parents who lose a child because of disease tend to "compensate" by having additional children to replace them. This phenomenon may maintain and possibly even increase the incidence of autosomal recessive disease.[40]
* Founder effect. This hypothesis states that the high incidence of the 1278insTATC chromosomes[39] is the result of an elevated allele frequency[38] that existed by chance in an early founder population.[39]
Tay–Sachs disease was one of the first genetic disorders for which epidemiology was studied using molecular data. Studies of Tay–Sachs mutations using new molecular techniques such as linkage disequilibrium and coalescence analysis have brought an emerging consensus among researchers supporting the founder effect theory.[39][41][42]
## History[edit]
Main article: History of Tay–Sachs disease
Waren Tay and Bernard Sachs are two physicians. They described the disease's progression and provided differential diagnostic criteria to distinguish it from other neurological disorders with similar symptoms.
Both Tay and Sachs reported their first cases among Ashkenazi Jewish families. Tay reported his observations in 1881 in the first volume of the proceedings of the British Ophthalmological Society, of which he was a founding member.[43] By 1884, he had seen three cases in a single family. Years later, Bernard Sachs, an American neurologist, reported similar findings when he reported a case of "arrested cerebral development" to other New York Neurological Society members.[44][45]
Sachs, who recognized that the disease had a familial basis, proposed that the disease should be called amaurotic familial idiocy. However, its genetic basis was still poorly understood. Although Gregor Mendel had published his article on the genetics of peas in 1865, Mendel's paper was largely forgotten for more than a generation – not rediscovered by other scientists until 1899. Thus, the Mendelian model for explaining Tay–Sachs was unavailable to scientists and doctors of the time. The first edition of the Jewish Encyclopedia, published in 12 volumes between 1901 and 1906, described what was then known about the disease:[46]
> It is a curious fact that amaurotic family idiocy, a rare and fatal disease of children, occurs mostly among Jews. The largest number of cases has been observed in the United States—over thirty in number. It was at first thought that this was an exclusively Jewish disease because most of the cases at first reported were between Russian and Polish Jews; but recently there have been reported cases occurring in non-Jewish children. The chief characteristics of the disease are progressive mental and physical enfeeblement; weakness and paralysis of all the extremities; and marasmus, associated with symmetrical changes in the macula lutea. On investigation of the reported cases, they found that neither consanguinity nor syphilitic, alcoholic, or nervous antecedents in the family history are factors in the etiology of the disease. No preventive measures have as yet been discovered, and no treatment has been of benefit, all the cases having terminated fatally.
Jewish immigration to the United States peaked in the period 1880–1924, with the immigrants arriving from Russia and countries in Eastern Europe; this was also a period of nativism (hostility to immigrants) in the United States. Opponents of immigration often questioned whether immigrants from southern and eastern Europe could be assimilated into American society. Reports of Tay–Sachs disease contributed to a perception among nativists that Jews were an inferior race.[45]
In 1969, Shintaro Okada and John S. O'Brien showed that Tay–Sachs disease was caused by an enzyme defect; they also proved that Tay–Sachs patients could be diagnosed by an assay of hexosaminidase A activity.[47] The further development of enzyme assays demonstrated that levels of hexosaminidases A and B could be measured in patients and carriers, allowing the reliable detection of heterozygotes. During the early 1970s, researchers developed protocols for newborn testing, carrier screening, and pre-natal diagnosis.[31][48] By the end of 1979, researchers had identified three variant forms of GM2 gangliosidosis, including Sandhoff disease and the AB variant of GM2-gangliosidosis, accounting for false negatives in carrier testing.[49]
## Society and culture[edit]
Main article: Societal and cultural aspects of Tay–Sachs disease
Since carrier testing for Tay–Sachs began in 1971, millions of Ashkenazi Jews have been screened as carriers. Jewish communities embraced the cause of genetic screening from the 1970s on. The success with Tay–Sachs disease has led Israel to become the first country that offers free genetic screening and counseling for all couples and opened discussions about the proper scope of genetic testing for other disorders in Israel.[50]
Because Tay–Sachs disease was one of the first autosomal recessive genetic disorders for which there was an enzyme assay test (prior to polymerase chain reaction testing methods), it was intensely studied as a model for all such diseases, and researchers sought evidence of a selective process. A continuing controversy is whether heterozygotes (carriers) have or had a selective advantage. The presence of four different lysosomal storage disorders in the Ashkenazi Jewish population suggests a past selective advantage for heterozygous carriers of these conditions."[41]
This controversy among researchers has reflected three debates among geneticists at large:
* Dominance versus overdominance. In applied genetics (selective and agricultural breeding), this controversy has reflected the century-long debate over whether dominance or overdominance provides the best explanation for heterosis (hybrid vigor).
* The classical/balance controversy. The classical hypothesis of genetic variability, often associated with Hermann Muller, maintains that most genes are of a normal wild type, and that most individuals are homozygous for that wild type, while most selection is purifying selection that operates to eliminate deleterious alleles. The balancing hypothesis, often associated with Theodosius Dobzhansky, states that heterozygosity will be common at loci, and that it frequently reflects either directional selection or balancing selection.
* Selectionists versus neutralists. In theoretical population genetics, selectionists emphasize the primacy of natural selection as a determinant of evolution and of variation within a population, while neutralists favor a form of Motoo Kimura's neutral theory of molecular evolution, which emphasizes the role of genetic drift.[51]
## Research directions[edit]
### Enzyme replacement therapy[edit]
Enzyme replacement therapy techniques have been investigated for lysosomal storage disorders, and could potentially be used to treat Tay–Sachs as well. The goal would be to replace the nonfunctional enzyme, a process similar to insulin injections for diabetes. However, in previous studies, the HEXA enzyme itself has been thought to be too large to pass through the specialized cell layer in the blood vessels that forms the blood–brain barrier in humans.
Researchers have also tried directly instilling the deficient enzyme hexosaminidase A into the cerebrospinal fluid (CSF) which bathes the brain. However, intracerebral neurons seem unable to take up this physically large molecule efficiently even when it is directly by them. Therefore, this approach to treatment of Tay–Sachs disease has also been ineffective so far.[52]
### Jacob sheep model[edit]
Tay–Sachs disease exists in Jacob sheep.[53] The biochemical mechanism for this disease in the Jacob sheep is virtually identical to that in humans, wherein diminished activity of hexosaminidase A results in increased concentrations of GM2 ganglioside in the affected animal.[54] Sequencing of the HEXA gene cDNA of affected Jacobs sheep reveal an identical number of nucleotides and exons as in the human HEXA gene, and 86% nucleotide sequence identity.[53] A missense mutation (G444R)[55] was found in the HEXA cDNA of the affected sheep. This mutation is a single nucleotide change at the end of exon 11, resulting in that exon's deletion (before translation) via splicing. The Tay–Sachs model provided by the Jacob sheep is the first to offer promise as a means for gene therapy clinical trials, which may prove useful for disease treatment in humans.[53]
### Substrate reduction therapy[edit]
Other experimental methods being researched involve substrate reduction therapy, which attempts to use alternative enzymes to increase the brain's catabolism of GM2 gangliosides to a point where residual degradative activity is sufficient to prevent substrate accumulation.[56][57] One experiment has demonstrated that using the enzyme sialidase allows the genetic defect to be effectively bypassed, and as a consequence, GM2 gangliosides are metabolized so that their levels become almost inconsequential. If a safe pharmacological treatment can be developed – one that increases expression of lysosomal sialidase in neurons without other toxicity – then this new form of therapy could essentially cure the disease.[58]
Another metabolic therapy under investigation for Tay–Sachs disease uses miglustat.[59] This drug is a reversible inhibitor of the enzyme glucosylceramide synthase, which catalyzes the first step in synthesizing glucose-based glycosphingolipids like GM2 ganglioside.[60]
### Increasing β-hexosaminidase A activity[edit]
As Tay–Sachs disease is a deficiency of β-hexosaminidase A, deterioration of affected individuals could be slowed or stopped through the use of a substance that increases its activity. However, since in infantile Tay–Sachs disease there is no β-hexosaminidase A, the treatment would be ineffective, but for people affected by Late-Onset Tay–Sachs disease, β-hexosaminidase A is present, so the treatment may be effective. The drug pyrimethamine has been shown to increase activity of β-hexosaminidase A.[61] However, the increased levels of β-hexosaminidase A still fall far short of the desired "10% of normal HEXA", above which the phenotypic symptoms begin to disappear.[61]
### Cord blood transplant[edit]
This is a highly invasive procedure which involves destroying the patient's blood system with chemotherapy and administering cord blood. Of five people who had received the treatment as of 2008, two were still alive after five years and they still had a great deal of health problems.[62]
Critics point to its harsh nature, and that it is unapproved. It is also hard for the blood to cross the blood–brain barrier, as well as very expensive, as each unit of cord blood costs $25,000 and adults need many units of cord blood.[63]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q "Tay–Sachs disease". Genetics Home Reference. October 2012. Archived from the original on 13 May 2017. Retrieved 29 May 2017.
2. ^ a b c d e f g h i j k l "Tay Sachs Disease". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 20 February 2017. Retrieved 29 May 2017.
3. ^ a b Kurreck, Jens; Stein, Cy Aaron (2016). Molecular Medicine: An Introduction. John Wiley & Sons. p. 71. ISBN 978-3-527-33189-5.
4. ^ Marinetti, G. V. (2012). Disorders of Lipid Metabolism. Springer Science & Business Media. p. 205. ISBN 9781461595649. Archived from the original on 2017-11-05.
5. ^ Walker, Julie (2007). Tay–Sachs Disease. The Rosen Publishing Group. p. 53. ISBN 9781404206977.
6. ^ Vogel, Friedrich; Motulsky, Arno G. (2013). Vogel and Motulsky's Human Genetics: Problems and Approaches (3 ed.). Springer Science & Business Media. p. 578. ISBN 9783662033562. Archived from the original on 2017-11-05.
7. ^ a b c d e "Tay–Sachs disease Information Page". National Institute of Neurological Disorders and Stroke. 14 February 2007. Archived from the original on 27 November 2011. Retrieved 10 May 2007.
8. ^ a b McKusick, Victor A; Hamosh, Ada. "Online Mendelian Inheritance in Man". United States National Institutes of Health. Archived from the original on 4 January 2016. Retrieved 24 April 2009.
9. ^ Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J (1 January 1990). "The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity". Neurology. 40 (1): 145–150. doi:10.1212/wnl.40.1.145. PMID 2136940. S2CID 19301606.
10. ^ Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF (1995). "Late-onset Tay–Sachs disease presenting as catatonic schizophrenia: Diagnostic and treatment issues". Journal of Clinical Psychiatry. 56 (8): 347–53. PMID 7635850.
11. ^ Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ (July 1981). "Chronic GM2 gangliosidosis masquerading as atypical Friedreich's ataxia: Clinical, morphologic, and biochemical studies of nine cases". Neurology. 31 (7): 787–98. doi:10.1212/wnl.31.7.787. PMID 6454083. S2CID 27305940.
12. ^ Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". European Journal of Pediatrics. 159 (Suppl 3): S192–S195. doi:10.1007/PL00014401. ISSN 1432-1076. PMID 11216898. S2CID 5808156.
13. ^ Myerowitz R (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation. 9 (3): 195–208. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID 9090523.
14. ^ Myerowitz R, Costigan FC (15 December 1988). "The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". Journal of Biological Chemistry. 263 (35): 18587–18589. PMID 2848800. Archived from the original on 17 April 2014.
15. ^ McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG (1992). "The presence of two different infantile Tay–Sachs disease mutations in a Cajun population". American Journal of Human Genetics. 51 (5): 1071–1077. PMC 1682822. PMID 1307230.
16. ^ Keats BJ, Elston RC, Andermann E (1987). "Pedigree discriminant analysis of two French Canadian Tay–Sachs families". Genetic Epidemiology. 4 (2): 77–85. doi:10.1002/gepi.1370040203. PMID 2953646. S2CID 23770703.
17. ^ De Braekeleer M, Hechtman P, Andermann E, Kaplan F (April 1992). "The French Canadian Tay–Sachs disease deletion mutation: Identification of probable founders". Human Genetics. 89 (1): 83–87. doi:10.1007/BF00207048. PMID 1577470. S2CID 19278804.
18. ^ Fraikor, Arlene L. (1977). "Tay-Sachs disease: genetic drift among the Ashkenazim Jews". Social Biology. 24 (2): 117–34. doi:10.1080/19485565.1977.9988272. PMID 897699.
19. ^ Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous Ashkenazi Jewish Patient with Tay–Sachs Disease" (PDF). Journal of Biological Chemistry. 263 (34): 18563–7. PMID 2973464. Archived (PDF) from the original on 26 September 2007. Retrieved 11 May 2007.
20. ^ a b Kaback MM, Desnick RJ (2011). "Hexosaminidase A Deficiency". In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJ, Stephens K (eds.). GeneReviews [Internet]. Seattle, Washington, USA: University of Washington, Seattle. PMID 20301397. Archived from the original on 2014-01-16.
21. ^ Korf, Bruce R (2000). Human genetics: A problem-based approach (2 ed.). Wiley-Blackwell. pp. 11–12. ISBN 978-0-632-04425-2.
22. ^ Mahuran DJ (1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105–138. doi:10.1016/S0925-4439(99)00074-5. PMID 10571007.
23. ^ Hechtman P, Kaplan F (1993). "Tay–Sachs disease screening and diagnosis: Evolving technologies". DNA and Cell Biology. 12 (8): 651–665. doi:10.1089/dna.1993.12.651. PMID 8397824.
24. ^ Tittarelli R, Giagheddu M, Spadetta V (July 1966). "Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome". The British Journal of Ophthalmology. 50 (7): 414–420. doi:10.1136/bjo.50.7.414. PMC 506244. PMID 5947589.
25. ^ Aragão RE, Ramos RM, Pereira FB, Bezerra AF, Fernandes DN (Jul–Aug 2009). "'Cherry red spot' in a patient with Tay–Sachs disease: case report". Arq Bras Oftalmol. 72 (4): 537–9. doi:10.1590/S0004-27492009000400019. PMID 19820796.
26. ^ Seshadri R, Christopher R, Arvinda HR (2011). "Teaching NeuroImages: MRI in infantile Sandhoff disease". Neurology. 77 (5): e34. doi:10.1212/WNL.0b013e318227b215. PMID 21810694.
27. ^ Stoller D (1997). "Prenatal Genetic Screening: The Enigma of Selective Abortion". Journal of Law and Health. 12 (1): 121–140. PMID 10182027.
28. ^ "Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling". United States, Center for Disease Control. Archived from the original on 14 July 2009. Retrieved 18 June 2009.
29. ^ Bodurtha J, Strauss JF (2012). "Genomics and perinatal care". N. Engl. J. Med. 366 (1): 64–73. doi:10.1056/NEJMra1105043. PMC 4877696. PMID 22216843.
30. ^ Marik, J J (13 April 2005). "Preimplantation Genetic Diagnosis". eMedicine.com. Archived from the original on 31 January 2009. Retrieved 10 May 2007.
31. ^ a b Ekstein, J; Katzenstein, H (2001). "The Dor Yeshorim story: Community-based carrier screening for Tay–Sachs disease". Tay–Sachs Disease. Advances in Genetics. 44. pp. 297–310. doi:10.1016/S0065-2660(01)44087-9. ISBN 978-0-12-017644-1. PMID 11596991.
32. ^ a b Colaianni A, Chandrasekharan S, Cook-Deegan R (2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease". Genetics in Medicine. 12 (4 Suppl): S5–S14. doi:10.1097/GIM.0b013e3181d5a669. PMC 3042321. PMID 20393311.
33. ^ Eeg-Olofsson L, Kristensson K, Sourander P, Svennerholm L (1966). "Tay–Sachs disease. A generalized metabolic disorder". Acta Paediatrica Scandinavica. 55 (6): 546–62. doi:10.1111/j.1651-2227.1966.tb15254.x. PMID 5972561. S2CID 86246245.
34. ^ Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR (12 September 2006). "Late-onset Tay–Sachs disease: Adverse effects of medications and implications for treatment". Neurology. 67 (5): 875–877. doi:10.1212/01.wnl.0000233847.72349.b6. PMID 16966555. S2CID 37096876.
35. ^ Rozenberg R, Pereira Lda V (2001). "The frequency of Tay–Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program". Sao Paulo medical journal [Revista paulista de medicina]. 119 (4): 146–149. doi:10.1590/s1516-31802001000400007. PMID 11500789.
36. ^ "1,000 New York Irish to get tested for Tay Sachs disease gene". Irish Central. Retrieved 13 February 2020.
37. ^ GM2 Gangliosidoses – Introduction And Epidemiology Archived 2012-04-20 at the Wayback Machine at Medscape. Author: David H Tegay. Updated: Mar 9, 2012
38. ^ a b Chakravarti A, Chakraborty R (1978). "Elevated frequency of Tay–Sachs disease among Ashkenazic Jews unlikely by genetic drift alone". American Journal of Human Genetics. 30 (3): 256–261. PMC 1685578. PMID 677122.
39. ^ a b c d Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (March 2004). "Origin and spread of the 1278insTATC mutation causing Tay–Sachs disease in Ashkenazi Jews: Genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4): 366–376. doi:10.1007/s00439-003-1072-8. PMID 14727180. S2CID 10768286.
40. ^ Koeslag JH, Schach SR (1984). "Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease". Annals of Human Genetics. 48 (3): 275–281. doi:10.1111/j.1469-1809.1984.tb01025.x. PMID 6465844. S2CID 23470984.
41. ^ a b Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
42. ^ Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American Journal of Human Genetics. 75 (2): 282–293. doi:10.1086/423146. PMC 1216062. PMID 15208782.
43. ^ Tay, Waren (1881). "Symmetrical changes in the region of the yellow spot in each eye of an infant". Transactions of the Ophthalmological Society. 1: 55–57.
44. ^ Sachs, Bernard (1887). "On arrested cerebral development with special reference to cortical pathology". Journal of Nervous and Mental Disease. 14 (9): 541–554. doi:10.1097/00005053-188714090-00001. hdl:10192/32703.
45. ^ a b Reuter, Shelley Z (Summer 2006). "The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay–Sachs Disease". The Canadian Journal of Sociology. 31 (3): 291–323. doi:10.1353/cjs.2006.0061. S2CID 143784985.
46. ^ "Amaurotic Idiocy". The Jewish Encyclopedia. New York: Funk and Wagnalls. 1901–1906. Archived from the original on 3 March 2012. Retrieved 7 March 2009.
47. ^ Okada S, O'Brien JS (1969). "Tay–Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165 (3894): 698–700. Bibcode:1969Sci...165..698O. doi:10.1126/science.165.3894.698. PMID 5793973. S2CID 8473726.
48. ^ O'Brien JS, Okada S, Chen A, Fillerup DL (1970). "Tay–Sachs disease: Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15–20. doi:10.1056/NEJM197007022830104. PMID 4986776.
49. ^ O'Brien, John S (1983). "The Gangliosidoses". In Stanbury, J B; et al. (eds.). The Metabolic Basis of Inherited Disease. New York: McGraw Hill. pp. 945–969.
50. ^ Sagi M (1998). "Ethical aspects of genetic screening in Israel". Science in Context. 11 (3–4): 419–429. doi:10.1017/s0269889700003112. PMID 15168671.
51. ^ Kimura, Motoo (1983). The Neutral Theory of Molecular Evolution. Cambridge: Cambridge University Press. ISBN 978-0-521-23109-1.
52. ^ Matsuoka K, Tamura T, Tsuji D, Dohzono Y, Kitakaze K, Ohno K, Saito S, Sakuraba H, Itoh K (14 October 2011). "Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis". Molecular Therapy. 19 (6): 1017–1024. doi:10.1038/mt.2011.27. PMC 3129794. PMID 21487393. Archived from the original on 21 August 2014.
53. ^ a b c Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH (2010). "Tay–Sachs disease in Jacob sheep". Molecular Genetics and Metabolism. 101 (4): 357–363. doi:10.1016/j.ymgme.2010.08.006. ISSN 1096-7192. PMID 20817517.
54. ^ Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.
55. ^ Kolodny E, Horak F, Horak J (2011). "Jacob sheep breeders find more Tay–Sachs carriers". ALBC Newsletter. Archived from the original on 20 March 2012. Retrieved 5 May 2011.
56. ^ Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL, Winchester B, Dwek RA, Butters TD (1997). "Prevention of lysosomal storage in Tay–Sachs mice treated with N-butyldeoxynojirimycin". Science. 276 (5311): 428–431. doi:10.1126/science.276.5311.428. PMID 9103204.
57. ^ Lachmann RH, Platt FM (2001). "Substrate reduction therapy for glycosphingolipid storage disorders". Expert Opinion on Investigational Drugs. 10 (3): 455–466. doi:10.1517/13543784.10.3.455. PMID 11227045. S2CID 5625586.
58. ^ Igdoura SA, Mertineit C, Trasler JM, Gravel RA (1999). "Sialidase-mediated depletion of GM2 ganglioside in Tay–Sachs neuroglia cells". Human Molecular Genetics. 8 (6): 1111–1116. doi:10.1093/hmg/8.6.1111. PMID 10332044.
59. ^ "Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses". 5 May 2008. Archived from the original on 13 February 2012. Retrieved 10 April 2012.
60. ^ Kolodny EH, Neudorfer O, Gianutsos J, Zaroff C, Barnett N, Zeng BJ, Raghavan S, Torres P, Pastores GM (2004). "Late-onset Tay–Sachs disease: Natural history and treatment with OGT 918 (Zavesca™)". Journal of Neurochemistry. 90 (S1): 54–55. doi:10.1111/j.1471-4159.2004.02650_.x. ISSN 0022-3042. S2CID 221872176.
61. ^ a b Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A (March 2011). "Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs". Mol. Genet. Metab. 102 (3): 356–63. doi:10.1016/j.ymgme.2010.11.163. PMID 21185210.
62. ^ Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan (2008-10-01). "Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes". Blood. 112 (7): 2979–2989. doi:10.1182/blood-2008-03-140830. ISSN 0006-4971. PMC 2556628. PMID 18587012.
63. ^ William Hathaway (May 16, 2006). "Umbilical Cord Blood Is Child's Last Hope, Stem Cells Could Halt Tay–Sachs Damage". Hartford Courant.
## External links[edit]
Wikimedia Commons has media related to Tay–Sachs disease.
* GeneReviews/NCBI/NIH/UW entry on hexosaminidase A deficiency, Tay–Sachs disease
* NINDS Tay–Sachs Disease Information Page
* Tay–Sachs disease at NLM Genetics Home Reference
* Tay–Sachs on NCBI
Classification
D
* ICD-10: E75.0
* ICD-9-CM: 330.1
* OMIM: 272800 272750
* MeSH: D013661
* DiseasesDB: 12916
External resources
* MedlinePlus: 001417
* eMedicine: ped/3016
* Patient UK: Tay–Sachs disease
* v
* t
* e
Lysosomal storage diseases: Inborn errors of lipid metabolism (Lipid storage disorders)
Sphingolipidoses
(to ceramide)
From ganglioside
(gangliosidoses)
* Ganglioside: GM1 gangliosidoses
* GM2 gangliosidoses (Sandhoff disease
* Tay–Sachs disease
* AB variant)
From globoside
* Globotriaosylceramide: Fabry's disease
From sphingomyelin
* Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
* type C)
* Glucocerebroside: Gaucher's disease
From sulfatide
(sulfatidoses
* leukodystrophy)
* Sulfatide: Metachromatic leukodystrophy
* Multiple sulfatase deficiency
* Galactocerebroside: Krabbe disease
To sphingosine
* Ceramide: Farber disease
NCL
* Infantile
* Jansky–Bielschowsky disease
* Batten disease
Other
* Cerebrotendineous xanthomatosis
* Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
* Sea-blue histiocytosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Tay–Sachs disease
|
c1848922
| 27,870 |
wikipedia
|
https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease
| 2021-01-18T18:46:37 |
{"gard": ["7737", "2522"], "mesh": ["D013661"], "umls": ["C1848922"], "icd-9": ["330.1"], "orphanet": ["845"], "wikidata": ["Q560337"]}
|
Aponeurotic fibroma (also known as "Calcifying aponeurotic fibroma," and "Juvenile aponeurotic fibroma") is characterized by a lesion that usually presents as a painless, solitary, deep fibrous nodule, often adherent to tendon, fascia, or periosteum, on the hands and feet.[1]
## See also[edit]
* Skin lesion
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. ISBN 0-07-138076-0.
This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Aponeurotic fibroma
|
c0553647
| 27,871 |
wikipedia
|
https://en.wikipedia.org/wiki/Aponeurotic_fibroma
| 2021-01-18T18:37:59 |
{"mesh": ["C000625499"], "umls": ["C0553647"], "orphanet": ["199260"], "wikidata": ["Q4780469"]}
|
In describing a locus on the X chromosome linked to body length in mice, Lembertas et al. (1996) suggested that a gene influencing human body length may be found in a homologous region of the human X chromosome. In an interspecific backcross, they found that body length in the mouse, measured from anus to nose and designated AN length, showed highly significant linkage (lod score 5.5) with markers in the midportion of the X chromosome including DXMit73 and Fpsl9. Lembertas et al. (1996) stated that the locus explained 10% of the variance in AN length and affected both males and females to about the same extent. Many nonoverlapping X chromosome deletions had been associated with short stature in humans (Ogata and Matsuo, 1993); however, several mechanisms, including X-specific growth genes, euchromatic or heterochromatic quantity, nonrandom X inactivation, and impaired endocrine status, may be responsible for the growth effects of X chromosome deletions in humans. Nonetheless, the observations in mice suggest a specific locus for stature. Lembertas et al. (1996) suggested Xq24-q28 as the most likely region of a homologous locus in the human.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
BODY LENGTH, MOUSE, HUMAN HOMOLOG
|
c1848212
| 27,872 |
omim
|
https://www.omim.org/entry/300054
| 2019-09-22T16:20:55 |
{"omim": ["300054"]}
|
A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Scedosporiosis
|
None
| 27,873 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449280
| 2021-01-23T17:24:59 |
{"icd-10": ["B48.7"]}
|
Taurodontism (meaning 'bull teeth') is characterized by large pulp chambers, with changes usually most striking in the molars. The taurodont tooth lies deep in alveolar bone. The converse situation is cynodont (teeth with small pulp chambers and bodies lying totally above alveolar bone as in the dog--Gr. kyon). Taurodontism was a frequent finding in early man and is found today in races such as the Eskimos who use their teeth for cutting hides. Coon (1962) suggested that the trait might have selective advantage to such groups. The genetics is likely to be polygenic. Shaw (1928) claimed that the trait is inherited as an autosomal recessive. Dominant inheritance was suggested by the 2-generation pedigrees reported by Goldstein and Gottlieb (1973) and Gamer and Zusman (1967). Witkop and Rao (1971) found no affected parents in 8 cases they investigated. Jaspers and Witkop (1980) pointed out association of taurodontism with X-chromosome aneuploidy. They also pointed out that it is a frequent trait, found in about 2.5% of adult Caucasians. While it may be viewed as an extension of a continuous trait of pulp chamber size, it occurs also in syndromes, especially those having an ectodermal defect, e.g., trichodentoosseous syndrome (190320) and otodental dysplasia (166750). The family reported by Haunfelder (1967) and by Stenvik et al. (1972) had affected sibs with a combination of scanty hair, oligodontia, and taurodontism (see 272980).
Inheritance \- ? Autosomal recessive \- likely polygenic Teeth \- Taurodontism \- Large dental pulp chambers \- Root deep in alveolar bone ▲ 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
|
TAURODONTISM
|
c0266039
| 27,874 |
omim
|
https://www.omim.org/entry/272700
| 2019-09-22T16:21:55 |
{"mesh": ["C536946"], "omim": ["272700"], "icd-10": ["K00.2"], "orphanet": ["3289"]}
|
A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Renal hypoplasia, unilateral
|
c0431691
| 27,875 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97361
| 2021-01-23T17:15:55 |
{"mesh": ["D000075529"], "umls": ["C0431691"], "icd-10": ["Q60.3"]}
|
Salcedo (1984) described a family in which 3 children of first-cousin parents of Palestinian Arabic ancestry had proteinuria and renal impairment from an early age. Two of the sibs died at ages 6 and 7 years of end-stage renal disease. Renal biopsy in the proband showed the histopathologic electron microscopic changes of the nail-patella syndrome (161200); however, none of the family had bone or nail changes of this disorder. An autosomal recessive nephropathy or glomerulodysplasia was suggested.
Skel \- No bone disorder GU \- Nephropathy \- Glomerulodysplasia \- Renal failure Nails \- Normal nails Lab \- Proteinuria \- Renal biopsy EM shows glomerular basement membrane changes like nail-patella syndrome 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
|
NAIL-PATELLA-LIKE RENAL DISEASE
|
c0403548
| 27,876 |
omim
|
https://www.omim.org/entry/256020
| 2019-09-22T16:24:26 |
{"mesh": ["C537228"], "omim": ["256020"], "orphanet": ["2613"], "synonyms": ["Alternative titles", "GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE"]}
|
Tetany
SpecialtyNeurology, endocrinology
Tetany or tetanic seizure is a medical sign consisting of the involuntary contraction of muscles, which may be caused by disorders that increase the action potential frequency of muscle cells or the nerves that innervate them.
Muscle cramps caused by the disease tetanus are not classified as tetany; rather, they are due to a lack of inhibition to the neurons that supply muscles. Tetanic contractions (physiologic tetanus) are a broad range of muscle contraction types, of which tetany is only one.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 References
* 6 External links
## Signs and symptoms[edit]
Tetany is characterized by contraction of distal muscles of the hands (carpal spasm with extension of interphalangeal joints and adduction and flexion of the metacarpophalangeal joints) and feet (pedal spasm) and is associated with tingling around the mouth and distally in the limbs.
## Causes[edit]
* The usual cause of tetany is a deficiency of calcium. An excess of phosphate (high phosphate-to-calcium ratio) can also trigger the spasms.[1][2]
* Underfunction of the parathyroid gland can lead to tetany.
* Low levels of carbon dioxide cause tetany by altering the albumin binding of calcium such that the ionized (physiologically influencing) fraction of calcium is reduced; one common reason for low carbon dioxide levels is hyperventilation.[3]
* Low levels of magnesium can lead to tetany.[4][5]
* Clostridium tetani toxin, via inhibition of glycine-mediated and GABA-ergic neurotransmission, may lead to tetany.[verification needed]
Cow grazing on rapidly grown pasture with tetany of the neck suggesting grass tetany[6]
* An excess of potassium in grass hay or pasture can trigger winter tetany, or grass tetany, in ruminants.[verification needed]
* Osteomalacia and rickets due to deficiency of vitamin D[verification needed]
## Pathophysiology[edit]
Hypocalcemia is the primary cause of tetany. Low ionized calcium levels in the extracellular fluid increase the permeability of neuronal membranes to sodium ion, causing a progressive depolarization, which increases the possibility of action potentials. This occurs because calcium ions interact with the exterior surface of sodium channels in the plasma membrane of nerve cells and hypocalcemia effectively increases resting potential (rendering the cells more excitable) since less positive charge is present extracellularly. When calcium ions are absent the voltage level required to open voltage gated sodium channels is significantly altered (less excitation is required).[7] If the plasma Ca2+ decreases to less than 50% of the normal value of 9.4 mg/dl, action potentials may be spontaneously generated, causing contraction of peripheral skeletal muscles. Hypocalcemia is not a term for tetany but is rather a cause of tetany.
## Diagnosis[edit]
French Professor Armand Trousseau (1801–1867) devised the maneuver of occluding the brachial artery by squeezing, to trigger cramps in the fingers. This is now known as the Trousseau sign of latent tetany.
Also, tetany can be demonstrated by tapping anterior to the ear, at the emergence of the facial nerve. A resultant twitch of the nose or lips suggests low calcium levels. This is now known as the Chvostek sign.
EMG studies reveal single or often grouped motor unit discharges at low discharge frequency during tetany episodes.
## References[edit]
1. ^ Haldimann, B.; Vogt, K. (Sep 1983). "[Hyperphosphatemia and tetany following phosphate enema]". Schweiz Med Wochenschr. 113 (35): 1231–3. PMID 6623048.
2. ^ Sutters, M.; Gaboury, CL.; Bennett, WM. (Oct 1996). "Severe hyperphosphatemia and hypocalcemia: a dilemma in patient management". J Am Soc Nephrol. 7 (10): 2056–61. PMID 8915965.
3. ^ Hall, John, ed. (2010). Guyton and Hall textbook of medical physiology (12th ed.). Philadelphia, Pa.: Saunders/Elsevier. p. 367. ISBN 978-1-4160-4574-8.
4. ^ Hall, John, ed. (2010). Guyton and Hall textbook of medical physiology (12th ed.). Philadelphia, Pa.: Saunders/Elsevier. p. 856. ISBN 978-1-4160-4574-8.
5. ^ Grobin, W (May 14, 1960). "A New Syndrome, Magnesium-Deficiency Tetany". Canadian Medical Association Journal. 82 (20): 1034–5. PMC 1938332. PMID 20326284.
6. ^ Bill Kvasnicka; Les J. Krysl. "Grass Tetany in Beef Cattle". Beef Cattle Handbook (PDF).
7. ^ Hall, John, ed. (2010). Guyton and Hall textbook of medical physiology (12th ed.). Philadelphia, Pa.: Saunders/Elsevier. p. 64. ISBN 978-1-4160-4574-8.
* Harrison's Principles of Internal Medicine 16th Edition – Dennis L. Kasper, Eugene Braunwald, Stephen Hauser, Dan Longo, J. Larry Jameson, Anthony S. Fauci.
## External links[edit]
Classification
D
* ICD-10: R29.0
* ICD-9-CM: 781.7
* MeSH: D013746
* DiseasesDB: 29143
* Maccallum, WG; Voegtlin, C (Jan 9, 1909). "On the relation of tetany to the parathyroid glands and to calcium metabolism". The Journal of Experimental Medicine. 11 (1): 118–51. doi:10.1084/jem.11.1.118. PMC 2124703. PMID 19867238.
* Williams, A; Abraham, D; Liddle, V (2011). "Tetany: A diagnostic dilemma". Journal of Anaesthesiology Clinical Pharmacology. 27 (3): 393–394. doi:10.4103/0970-9185.83691. PMC 3161471. PMID 21897517.
Wikimedia Commons has media related to Tetany (medical sign).
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Tetany
|
c0039621
| 27,877 |
wikipedia
|
https://en.wikipedia.org/wiki/Tetany
| 2021-01-18T18:50:01 |
{"mesh": ["D013746"], "umls": ["C0039621"], "icd-10": ["R29.0"], "wikidata": ["Q511818"]}
|
A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).
## Epidemiology
More than 100 cases have been described and the female to male ratio is 3:1.
## Clinical description
The clinical phenotype is similar to that of Berardinelli-Seip syndrome (see this term), but lipoatrophy appears secondarily during childhood, adolescence or adulthood, and as a result the syndrome is thought to be acquired. In some cases, loss of adipose tissue is localized, especially if it is preceded by a panniculitis. The syndrome is associated with a voracious appetite and an acceleration of growth in adolescents. One third of cases are accompanied by acanthosis nigricans and a polycystic ovary syndrome (see these terms). Hepatomegaly with steatosis and a risk of cirrhogenous progression is common. Biologically, hyperinsulinemia and insulin-resistant diabetes are observed, often associated with severe hypertriglyceridemia with low plasma levels of leptin and adiponectin. Proteinuria associated with focal segmental glomerulosclerosis or with membranoproliferative glomerulonephritis have been reported recently, as well as dysregulation of growth hormone. Three types of the disease have been described: 1) a form with panniculitis (inflammatory nodules followed by lipoatrophy), 2) an autoimmune form that is readily associated with other syndromes such as chronic active hepatitis, Hashimoto struma and hemolytic anemia, but also with dermatomyositis and Sjogren's syndrome (see these terms), 3) idiopathic.
## Etiology
The cause of the disease remains unknown. There may be infectious triggering factors (there was a recent case of the panniculitis type that appeared after tuberculosis) or an autoimmune mechanism. A recent publication showed activation of the classical complement pathway (low C4). This is in contrast to acquired partial lipodystrophy (see this term) which affects the upper half of the body and is characterized by an activation of the alternative complement pathway (low C3). Progression towards partial lipoatrophy, focal or generalized, has been reported in patients with dermatomyositis, amongst whom this could be a late relapse, and it is more common that the antibody anti-p155 is present. The hypothesis of an underlying genetic factor has not been rejected.
## Diagnostic methods
Diagnosis is clinical and should be confirmed by an assessment of body fat, in particular by biphotonic absorptiometry and magnetic resonance imaging.
## Differential diagnosis
Differential diagnoses include other forms of extreme insulin resistance (Rabson-Mendenhall syndrome, leprechaunism, Berardinelli type lipodystrophy and insulin resistance syndromes types A and B; see these terms) and other lipodystrophies.
## Management and treatment
The treatment of the metabolic manifestations is a priori no different to the treatment of other forms of insulin resistance: physical exercise, insulin sensitizers such as metformin or pioglitazone, insulin (or preferably insulin analogues), antihypertensives, and monitoring and treatment of hypertriglyceridemia. The efficacy of recombinant human leptin has been demonstrated on the metabolic level but this therapy is not available in all countries. In serious autoimmune forms of the disease, immunosuppressive therapy may be indicated.
## Prognosis
The prognosis is not well known but is probably related to cardiovascular risk (linked to the insulin-resistance syndrome) and to the underlying cause of the 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
|
Acquired generalized lipodystrophy
|
c0271693
| 27,878 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79086
| 2021-01-23T18:49:37 |
{"gard": ["12603"], "umls": ["C0271693", "C3665770"], "icd-10": ["E88.1"], "synonyms": ["Acquired lipoatrophic diabetes", "Lawrence syndrome", "Lawrence-Seip syndrome"]}
|
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. (March 2014)
Penile Artery Shunt Syndrome
This is the pre-embolization arteriogram showing the aberrant obturator artery arising from the inferior epigastric artery, which contributed to the described Penile Artery Steal Syndrome.
Penile Artery Shunt Syndrome (PASS) is an iatrogenic clinical phenomenon first described by Tariq Hakky, Christopher Yang, Jonathan Pavlinec, Kamal Massis, and Rafael Carrion within the Sexual Medicine Program in the Department of Urology, at the University of South Florida, and Ricardo Munarriz, of Boston University School of Medicine Department of Urology in 2013. It may be a cause of refractory Erectile Dysfunction in patients who have undergone Penile Revascularization Surgery.
Post-embolization, with the solid red arrow marking the embolized stump of the aberrant obturator artery, and hollow red arrow indicating the intact anastomosis of the inferior-epigastric artery to the dorsal penile artery.
## Contents
* 1 Diagnosis
* 2 Treatment
* 2.1 Considerations
* 3 History
* 4 References
* 5 External links
## Diagnosis[edit]
This section is empty. You can help by adding to it. (March 2018)
## Treatment[edit]
Percutaneous Coil Embolization of the aberrant obturator artery was performed. Arterial flow rapidly improved through the left dorsal penile artery, and brisk opacification was seen through to the glans penis. Post-procedure, the patient experienced an immediate improvement in erectile function.
### Considerations[edit]
Penile Revascularization is a specialized vascular-surgical treatment option for Erectile Dysfunction. The 2009 International Consultation on Sexual Dysfunctions recommended that revascularization be limited to nonsmoker, nondiabetic men younger than 55 years of age with isolated stenosis of the internal pudendal artery with absence of venous leak.[1] Patients with persistent erectile dysfunction after revascularization may benefit from repeat penile duplex ultrasound and pelvic angiography to evaluate the status of the bypass graft and to exclude the presence of a PASS as the cause. The prevalence of an aberrant obturator artery arising from the inferior epigastric artery is approximately 10.5%.[2] If an aberrant obturator artery is visualized arising from the inferior epigastric artery prior to surgical penile revascularization, consideration should be given toward using an alternative source artery or to embolization to avoid the creation of a Penile Artery Shunt Syndrome encountered in this described case.
## History[edit]
Penile Artery Shunt Syndrome (PASS) was initially described in a patient who underwent Penile Revascularization Surgery for isolated left cavernosal artery stenosis in the absence of systemic vascular risk factors. An end-to-end anastomosis of the left inferior epigastric artery to the left dorsal penile artery was created using a previously described technique.[3] After technically successful revascularization surgery, the patient continued to have post-operative erectile dysfunction despite documented patency of the surgical graft by Penile Duplex Ultrasonography. Pelvic angiography was performed on the patient, revealing an aberrant obturator artery originating from the inferior epigastric artery. The study revealed markedly sluggish forward flow visualized through the anastomosis to the left dorsal penile artery, with dominant flow in the left inferior epigastric artery to the obturator artery and its branches. This culminated in reduced blood flow to the penis.
## References[edit]
1. ^ Montorsi, Francesco; Adaikan, Ganesan; Becher, Edgardo; Giuliano, Francois; Khoury, Saad; Lue, Tom F.; et al. (2010). "Summary of the Recommendations on Sexual Dysfunctions in Men". The Journal of Sexual Medicine. 7 (11): 3572–3588. doi:10.1111/j.1743-6109.2010.02062.x. ISSN 1743-6095.
2. ^ Requarth, JA; Miller. "Aberrant obturator artery is a common arterial variant that may be a source of unidentified hemorrhage in pelvic fracture patients". J Trauma. 70: 366–372. doi:10.1097/ta.0b013e3182050613.
3. ^ Munarriz, Ricardo; Uberoi, Fantini; Martinez, Lee (August 2009). "Microvascular arterial bypass surgery: long-term outcomes using validated instruments". Journal of Urology. 182 (2): 634–648. doi:10.1016/j.juro.2009.04.031. PMID 19539333.
## External links[edit]
* Medicine For Instant Erection
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Penile Artery Shunt Syndrome
|
None
| 27,879 |
wikipedia
|
https://en.wikipedia.org/wiki/Penile_Artery_Shunt_Syndrome
| 2021-01-18T18:39:59 |
{"wikidata": ["Q17009284"]}
|
An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
There are several types of epidermal nevus that are defined in part by the type of epidermal cell involved. The epidermis is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Keratinocytic epidermal nevi are typically found on the torso or limbs. They can be flat, tan or brown patches of skin or raised, velvety patches. As affected individuals age, the nevi can become thicker and darker and develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are normally invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. Keratinocytic epidermal nevi are also known as linear epidermal nevi or verrucous epidermal nevi, based on characteristics of their appearance.
Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles, the sweat glands, or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. A common type of organoid epidermal nevus is called nevus sebaceous. Nevi in this group are waxy, yellow-orange patches of skin, usually on the scalp or face. The patch is typically hairless, leaving a distinct region of baldness (alopecia). Similar to keratinocytic epidermal nevi, nevi sebaceous can become thicker and more verrucous over time. In about one-quarter of people with a nevus sebaceous, a tumor forms in the same region as the nevus. The tumor is usually benign, although rarely cancerous (malignant) tumors develop.
Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved.
## Frequency
Epidermal nevi are estimated to occur in 1 to 3 in 1,000 people.
## Causes
Several genes have been associated with different types of epidermal nevus. Mutations in the FGFR3 gene and PIK3CA gene account for about forty percent of keratinocytic epidermal nevi. Mutations in the HRAS gene are found in a majority of people with a nevus sebaceous and are also associated with keratinocytic epidermal nevi. Genes related to HRAS (called KRAS and NRAS) are less commonly involved in nevi sebaceous or keratinocytic epidermal nevi. Other genes, some of which have not been identified, are also involved in epidermal nevi.
FGFR3, PIK3CA, HRAS, and other related RAS genes provide instructions for making proteins that are involved in cellular signaling. This signaling helps direct several important cellular processes, including regulation of growth and division of skin cells. In order to relay signals, the proteins must be turned on (activated), which triggers a cascade of chemical reactions inside the cell that control growth and other cellular functions.
Mutations in the genes mentioned above lead to proteins that are constantly turned on. Studies suggest that cells with a mutation in one of these genes grow and divide more than normal cells. This uncontrolled cell division results in overgrowth of skin cells, leading to epidermal nevi.
Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it. Because the mutation is found in some of the body's cells but not in others, people with an epidermal nevus are said to be mosaic for the mutation.
### Learn more about the genes associated with Epidermal nevus
* FGFR2
* FGFR3
* HRAS
* KRAS
* NRAS
* PIK3CA
## Inheritance Pattern
This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This type of alteration is called a somatic mutation.
Occasionally, a somatic FGFR3 gene mutation occurs in an affected parent's reproductive cells (sperm or eggs) and is passed to the next generation. When this occurs, the gene mutation is found in every cell in the child's body, which results in skeletal abnormalities rather than epidermal nevus.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Epidermal nevus
|
c0334082
| 27,880 |
medlineplus
|
https://medlineplus.gov/genetics/condition/epidermal-nevus/
| 2021-01-27T08:25:47 |
{"gard": ["13025"], "mesh": ["C580062"], "omim": ["162900"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that this form of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), which encodes plakophilin-2, an essential armadillo repeat protein of the cardiac desmosome, on chromosome 12p11.
For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).
Molecular Genetics
On the basis of findings of a lethal defect in cardiac morphogenesis at embryonic day 10.75 in mice homozygous with respect to a deletion mutation of Pkp2 (Grossmann et al., 2004), Gerull et al. (2004) hypothesized that mutations in human PKP2 may account for ARVC. They collected samples from a total of 120 unrelated ARVC probands of Western European descent (101 males and 19 females) who were diagnosed using criteria proposed by McKenna et al. (1994). Gerull et al. (2004) sequenced all 14 PKP exons, including flanking intronic splice sequences, and identified 25 different heterozygous mutations in 32 probands (27 males and 5 females).
Gerull et al. (2004) stated that inasmuch as mutations causing ARVC have been identified in PKP2, JUP (encoding plakoglobin: 173325), and DSP (encoding desmoplakin; 125647), ARVC may be considered a disease of the desmosome. Desmosomes are complex multiprotein structures of the cell membrane and provide structural and functional integrity to adjacent cells (e.g., epithelial cells and cardiomyocytes). Desmosomal proteins also have a role in cell signaling. At least 3 groups of molecules contribute to the formation of desmosomes: desmosomal cadherins, armadillo-repeat proteins, and plakophilins. The plakophilins, which are armadillo-related proteins, contain 10 42-amino acid armadillo repeat motifs and are located in the outer dense plaque of desmosomes, linking desmosomal cadherins with desmoplakin and the intermediate filament system. Like other armadillo-repeat proteins, plakophilins are also found in the nucleus, where they may have a role in transcriptional regulation. Plakophilin-2 (PKP2; 602861) exists in 2 alternatively spliced isoforms (2a and 2b), interacts with multiple other cell adhesion proteins, and is the primary cardiac plakophilin (Mertens et al., 2001).
Dalal et al. (2006) confirmed high prevalence of PKP2 mutations in a large cohort of patients with ARVD/C and reported that those with PKP2 mutations present with arrhythmia earlier than do patients with ARVD/C who do not have a PKP2 mutation.
Pathogenesis
Kim et al. (2013) generated induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) from 2 patients with ARVD/C carrying PKP2 mutations (ARVD9). Mutant PKP2 iPSC-CMs demonstrated abnormal plakoglobin nuclear translocation and decreased beta-catenin (CTNNB1; 116806) activity in cardiogenic conditions; however, these abnormal features were insufficient to reproduce the pathologic phenotypes of ARVD/C in standard cardiogenic conditions. Kim et al. (2013) showed that induction of adult-like metabolic energetics from an embryonic/glycolytic state and abnormal PPAR-gamma (PPARG; 601487) activation underlie the pathogenesis of ARVD/C. By coactivating normal PPAR-alpha (PPARA; 170998)-dependent metabolism and an abnormal PPAR-gamma pathway in beating embryoid bodies with defined media, Kim et al. (2013) established an efficient ARVD/C in vitro model within 2 months. This model manifested exaggerated lipogenesis and apoptosis in mutant PKP2 iPSC-CMs. iPSC-CMs with a homozygous PKP2 mutation also had calcium-handling deficits. Kim et al. (2013) concluded that their study was the first to demonstrate that induction of adult-like metabolism has a critical role in establishing an adult-onset disease model using patient-specific iPSCs. Their model also revealed that metabolic derangement in an adult-like metabolic milieu underlies ARVD/C pathologies, enabling the proposal of novel therapeutic strategies.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Cardiomyopathy, right ventricular \- Fibrofatty replacement of right ventricular myocardium \- Ventricular arrhythmia \- Ventricular aneurysm \- Sudden cardiac death \- Palpitations \- Syncope MOLECULAR BASIS \- Caused by mutation in the plakophilin-2 gene ( 602861.0001 ) ▲ 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
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
|
c1862511
| 27,881 |
omim
|
https://www.omim.org/entry/609040
| 2019-09-22T16:06:47 |
{"doid": ["0110077"], "mesh": ["C566254"], "omim": ["107970", "609040"], "orphanet": ["217656"], "synonyms": ["Familial isolated ARVD", "Familial isolated ARVC", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhythmogenic ventricular cardiomyopathy", "Familial isolated arrhythmogenic right ventricular cardiomyopathy", "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9"], "genereviews": ["NBK1131"]}
|
Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.
## Frequency
The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns.
## Causes
Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.
### Learn more about the gene associated with Menkes syndrome
* ATP7A
## Inheritance Pattern
Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a 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
|
Menkes syndrome
|
c0022716
| 27,882 |
medlineplus
|
https://medlineplus.gov/genetics/condition/menkes-syndrome/
| 2021-01-27T08:25:06 |
{"gard": ["1521"], "mesh": ["D007706"], "omim": ["309400", "304150"], "synonyms": []}
|
Occipital horn syndrome
Other namesEhlers-Danlos syndrome type IX; X-Linked Cutis Laxa
This condition is inherited in an X-linked recessive manner.
SpecialtyEndocrinology
ComplicationsAortic aneurysms
MedicationDroxidopa, copper-histidine injections
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome,[1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.[2][3]
Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males. This is because they do not have a second X chromosome, unlike females, so essentially are lacking the 'backup' copy with proper function. Females are much more likely to be carriers only. For a female to be affected they must carry two defective X chromosomes, not just one.[4]
The disorder is considered a milder variant of Menkes disease.[5]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 Gene therapy research
* 5 Prognosis
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton. These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and pelvis.[1] OHS presents in early to middle childhood.[4] Children may present with features such as:
* Normal/slightly delayed intelligence
* Long neck, high arched palate, long face, high forehead
* Looseness of skin and "double jointed"
* Inguinal hernias
* Twisting of blood vessels
* Bladder diverticula
* Dysautonomia—inability to regulate parts of the nervous system
* Chronic diarrhea
* Coarse hair
* Low Ceruloplasmin Levels (9-29mg/dL)[6]
* Damage to the Central Nervous System [7]
* Muscle Wasting[7]
## Causes[edit]
OHS is a milder allelic variant of Menkes disease, having a later age of onset and being associated with far less severe central neurodegeneration. The milder nature of OHS is often attributable to ‘leaky’ splice junction mutations that allow 20–30% of ATP7A messenger RNA (mRNA) transcripts to be correctly processed. As in cases of Menkes disease, individuals with OHS manifest connective tissue abnormalities resulting from deficient activity of lysyl oxidase, a copper-requiring enzyme that normally deaminates lysine and hydroxylysine in the first step of collagen crosslink formation. Such individuals also often endure inconvenient dysautonomic signs and symptoms related to a partial deficiency in dopamine-β-hydroxylase (DBH) activity. DBH, another copper-dependent enzyme, normally converts dopamine to norepinephrine, a crucial neurotransmitter in norepinephrinergic neurons. A natural mouse model of OHS, the so-called mottled blotchy model, recapitulates the connective tissue abnormalities, DBH deficiency and mild CNS damage seen in humans.[8]
## Diagnosis[edit]
The initial diagnosis of Menkes disease (MD) and its milder variants such as Occipital Horn Syndrome is based on the clinical symptoms. Low serum copper and ceruloplasmin levels support the clinical suspicion of OHS, but biochemical confirmation in tissue culture is needed. The ultimate diagnostic proof is the demonstration of a molecular defect in ATP7A. Demonstration of the bony protuberances on the occiput will clinch the diagnosis, and these can be palpated in some patients.[9]
## Treatment[edit]
Courses of treatment for children with OHS is dependent upon the severity of their case. Children with OHS often receive physical and occupational therapy.[4] They may require a feeding tube to supplement nourishment if they are not growing enough. In an attempt to improve the neurological condition (seizures) copper histidine or copper chloride injections can be given early in the child's life. However, copper histidine injections have been shown ineffective for treating the connective tissue manifestations of OHS.[10]
### Gene therapy research[edit]
The NIH and Cyprium Therapeutics are coordinating the joint-development of an Adeno-Associated virus gene therapy named AAV-ATP7A, for Menkes disease and its milder variants such as Occipital Horn Syndrome.[11] In March 2017, Cyprium Therapeutics acquired the World-Wide development and commercial rights to the Menkes program at NIH/NICHD through CRADA and licensing agreements with NICHD.[12] AAV-ATP7A is still in pre-clinical stage, although it has received orphan drug designation from the FDA.
## Prognosis[edit]
The long term natural history of OHS is not known.[8] Some patients have died suddenly as young as 17 years of age,[13] whereas one patient has survived to age 57.[14] Causes of death include respiratory failure,[13] aortic aneurysm,[15] and intracranial hemorrhage.[16]
## See also[edit]
* Cutis laxa
* List of cutaneous conditions
* Inborn errors of metal metabolism
## References[edit]
1. ^ a b Online Mendelian Inheritance in Man (OMIM): 304150
2. ^ Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
3. ^ Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG (November 2006). "Functional copper transport explains neurologic sparing in occipital horn syndrome". Genetics in Medicine. 8 (11): 711–8. doi:10.1097/01.gim.0000245578.94312.1e. PMID 17108763.
4. ^ a b c Horn Syndrome Archived 2016-10-11 at the Wayback Machine, 9 August 2004.
5. ^ Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, et al. (March 2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy". American Journal of Human Genetics. 86 (3): 343–52. doi:10.1016/j.ajhg.2010.01.027. PMC 2833394. PMID 20170900.
6. ^ Kodama H, Murata Y, Kobayashi M (August 1999). "Clinical manifestations and treatment of Menkes disease and its variants". Pediatrics International. 41 (4): 423–9. doi:10.1046/j.1442-200x.1999.01095.x. PMID 10453199.
7. ^ a b Wakai S, Ishikawa Y, Nagaoka M, Okabe M, Minami R, Hayakawa T (May 1993). "Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case". Journal of the Neurological Sciences. 116 (1): 1–5. doi:10.1016/0022-510x(93)90081-9. PMID 8099605.
8. ^ a b Kaler SG (January 2011). "ATP7A-related copper transport diseases-emerging concepts and future trends". Nature Reviews. Neurology. 7 (1): 15–29. doi:10.1038/nrneurol.2010.180. PMC 4214867. PMID 21221114.
9. ^ Horn N, Tümer Z (2003). "Chapter 14: Menkes Disease and the Occipital Horn Syndrome". In Royce PM, Steinmann B (eds.). Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects (Second ed.). Wiley-Blackwell. pp. 651–685. doi:10.1002/0471221929.ch14. ISBN 978-0-471-25185-9.
10. ^ Kodama H, Fujisawa C, Bhadhprasit W (March 2011). "Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects". Brain & Development. 33 (3): 243–51. doi:10.1016/j.braindev.2010.10.021. PMID 21112168.
11. ^ Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG (December 2011). "ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model". Molecular Therapy. 19 (12): 2114–23. doi:10.1038/mt.2011.143. PMC 3242653. PMID 21878905.
12. ^ "Corporate Presentation" (PDF). Cyprium Therapeutics, Inc. October 2017.
13. ^ a b Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (April 2014). "Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon". European Journal of Human Genetics. 22 (4): 517–21. doi:10.1038/ejhg.2013.191. PMC 3953917. PMID 24002164.
14. ^ Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V (December 2017). "ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype". Molecular Genetics and Metabolism Reports. 13: 14–17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958. PMID 28761814.
15. ^ Quiroga E, Heneghan R (June 2015). "Abdominal aortic aneurysm in a patient with occipital horn syndrome 2". Journal of Vascular Surgery Cases. 1 (2): 138–140. doi:10.1016/j.jvsc.2015.03.012. PMC 6849971. PMID 31725130.
16. ^ Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK (October 1996). "Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype". American Journal of Medical Genetics. 65 (1): 44–51. doi:10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y. PMID 8914740.
## External links[edit]
Classification
D
* ICD-10: E83.0
* OMIM: 304150
* MeSH: C537860 C537860, C537860
* DiseasesDB: 33413
External resources
* Orphanet: 198
* GeneReviews/NCBI/NIH/UW entry on ATP7A-Related Copper Transport Disorders
* Occipital horn syndrome at NIH's Office of Rare Diseases
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Metal deficiency and toxicity disorders
Iron
excess:
* Iron overload
* Hemochromatosis
* Hemochromatosis/HFE1
* Juvenile/HFE2
* HFE3
* African iron overload/HFE4
* Aceruloplasminemia
* Atransferrinemia
* Hemosiderosis
deficiency:
* Iron deficiency
Copper
excess:
* Copper toxicity
* Wilson's disease
deficiency:
* Copper deficiency
* Menkes disease/Occipital horn syndrome
Zinc
excess:
* Zinc toxicity
deficiency:
* Acrodermatitis enteropathica
Other
* Inborn errors of metabolism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Occipital horn syndrome
|
c0268353
| 27,883 |
wikipedia
|
https://en.wikipedia.org/wiki/Occipital_horn_syndrome
| 2021-01-18T18:39:39 |
{"gard": ["4017"], "mesh": ["C537860"], "umls": ["C0268353"], "icd-10": ["E83.0"], "orphanet": ["198"], "wikidata": ["Q3508729"]}
|
The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia). The language problems can affect speaking, reading, and writing. Another feature of epilepsy-aphasia spectrum disorders is certain patterns of abnormal electrical activity in the brain, which are detected by a test called an electroencephalogram (EEG). Many people with conditions in this spectrum develop recurrent seizures (epilepsy), and some have mild to severe intellectual disability. The conditions in the epilepsy-aphasia spectrum, which all begin in childhood, include Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep syndrome (ECSWS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy-aphasia disorder (IEAD), atypical childhood epilepsy with centrotemporal spikes (ACECTS), and childhood epilepsy with centrotemporal spikes (CECTS).
LKS and ECSWS are at the severe end of the spectrum. Both usually feature a characteristic abnormal pattern of electrical activity in the brain called continuous spike and waves during slow-wave sleep (CSWS). This pattern occurs while the affected child is sleeping, specifically during deep (slow-wave) sleep.
Most children with LKS develop normally in early childhood, although some speak later than their peers. However, affected children lose language skills beginning around age 5. This loss typically begins with verbal agnosia, which is the inability to understand speech. As LKS develops, the ability to express speech is also impaired. Approximately 70 percent of children with LKS have seizures, typically of a type described as focal (or partial) because the seizure activity occurs in specific regions of the brain rather than affecting the entire brain.
About half of children with ECSWS develop normally in early childhood, while others have delayed development of speech and motor skills. Although children with ECSWS typically lose a range of previously acquired skills, including those involved in language, movement, learning, or behavior, not everyone with ECSWS has aphasia. Seizures occur in approximately 80 percent of children with ECSWS and can include a variety of types, such as atypical absence seizures, which involve short periods of staring blankly; hemiclonic seizures, which cause rhythmic jerking of one side of the body; or generalized tonic-clonic seizures, which cause stiffening and rhythmic jerking of the entire body.
CECTS is at the mild end of the epilepsy-aphasia spectrum. Affected children have rolandic seizures; these seizures are triggered by abnormal activity in an area of the brain called the rolandic region, which is part of the cerebrum. The seizures, which usually occur during sleep, cause twitching, numbness, or tingling of the face or tongue, often causing drooling and impairing speech. In most people with CECTS, the seizures disappear by the end of adolescence. Most affected individuals develop normally, although some have difficulty coordinating the movements of the mouth and tongue needed for clear speech (dyspraxia) or impairment of language skills.
The other conditions in the epilepsy-aphasia spectrum are less common and fall in the middle of the spectrum. Children with IEAD usually have delayed development or regression of language skills. Some have seizures and most have abnormal electrical activity in their brains during sleep, although it is not prominent enough to be classified as CSWS. ACECTS features seizures and developmental regression that can affect movement, language, and attention. Children with ACECTS have abnormal electrical activity in the brain that is sometimes classified as CSWS. ADRESD is characterized by focal seizures, speech difficulties due to dyspraxia, and learning disability.
## Frequency
The prevalence of the epilepsy-aphasia spectrum is unknown. Most of the conditions in the spectrum are rare; however, CECTS is one of the most common forms of epilepsy in children, accounting for 8 to 25 percent of cases. It is estimated to occur in 1 in 5,000 children younger than 16.
## Causes
Mutations in the GRIN2A gene can cause conditions in the epilepsy-aphasia spectrum. These mutations are more common in the more severe conditions; they are found in up to 20 percent of people with LKS or ECSWS and about 5 percent of people with CECTS. In affected people without a GRIN2A gene mutation, the cause of the condition is unknown. Researchers suspect that changes in other, unidentified genes may also be associated with epilepsy-aphasia spectrum disorders.
The GRIN2A gene provides instructions for making the GluN2A protein, which is one component (subunit) of a subset of NMDA receptors. NMDA receptors transmit signals that turn on nerve cells (neurons) in the brain. Signaling through these receptors is involved in normal brain development, changes in the brain in response to experience (synaptic plasticity), learning, and memory. The GluN2A subunit determines where in the brain the receptor is located and how it functions. Receptors containing this subunit are found in regions of the brain involved in speech and language, among other regions. These receptors also appear to play a role in brain signaling during slow-wave sleep.
Mutations in the GRIN2A gene lead to altered NMDA receptor signaling in the brain. As a result, neurons may be abnormally turned on, which can cause seizures and other abnormal brain activity and may lead to death of the neurons. Changes in GluN2A appear to particularly affect signaling in regions of the brain involved in speech and language and disrupt brain activity during slow-wave sleep, leading to several of the signs and symptoms of this group of conditions.
It is not clear why some people with a GRIN2A gene mutation have a relatively mild condition and others have more severe signs and symptoms, even within the same family. Variations in other genes and environmental factors may also play a role in development of the condition.
### Learn more about the gene associated with Epilepsy-aphasia spectrum
* GRIN2A
## Inheritance Pattern
Conditions in the epilepsy-aphasia spectrum that are caused by GRIN2A gene mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with an epilepsy-aphasia spectrum disorder may have family members with a condition in the epilepsy-aphasia spectrum or a related disorder such as isolated seizures or speech and language problems.
In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Epilepsy-aphasia spectrum
|
c0282512
| 27,884 |
medlineplus
|
https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/
| 2021-01-27T08:25:46 |
{"gard": ["6855"], "mesh": ["D018887"], "omim": ["245570"], "synonyms": []}
|
A vascular tumor on both mucosa and skin
Pyogenic granuloma
Other namesEruptive hemangioma, Granulation tissue-type hemangioma, Granuloma gravidarum, Lobular capillary hemangioma, Pyogenic fibroma, Pregnancy tumor, and Tumor of pregnancy[1][2]
SpecialtyDermatology
Pyogenic granuloma or lobular capillary hemangioma[3] is a vascular tumor that occurs on both mucosa and skin, and appears as an overgrowth of tissue due to irritation, physical trauma, or hormonal factors.[4][5] It is often found to involve the gums, the skin and nasal septum, and has also been found far from the head such as in the thigh.[6]
Pyogenic granulomas may be seen at any age, and are more common in females than males. In pregnant women, lesions may occur in the first trimester with an increasing incidence up until the seventh month, and are often seen on the gums.[7]
## Contents
* 1 Signs and symptoms
* 1.1 Associated conditions
* 2 Cause
* 3 Diagnosis
* 4 Management
* 5 Prognosis
* 6 History
* 7 Terminology
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
The appearance of pyogenic granuloma is usually a color ranging from red/pink to purple, grow rapidly, and can be smooth or mushroom-shaped. Younger lesions are more likely to be red because of the high number of blood vessels. Older lesions begin to change into a pink color. Size commonly ranges from a few millimeters to centimeters, though smaller or larger lesions may occur.[medical citation needed] A pyogenic granuloma can be painful, especially if located in an area of the body where it is constantly disturbed. Pyogenic granulomas can grow rapidly and will often bleed profusely with little or no trauma. They may exude an oil like substance, causing the surface to be damp. This is especially true if the granuloma is located on the scalp.[medical citation needed]
Epulis granulomatosum is a variant of pyogenic granuloma that forms only on gingiva, and is often seen forming in a recent extraction socket. Pyogenic granulomas appear on the gingiva in 75% of cases, more often in the maxillary than mandibular jaw. Anterior areas are more often affected than posterior areas. It can also be found on the lips, tongue, and inner cheek. Poor oral hygiene or trauma are usually precipitating factors.
One study has suggested a correlation between pyogenic granulomas and Bartonella seropositivity.[8] However, this association has been questioned by others.[9] The microscopic appearance of a pyogenic granuloma consists of highly vascular granulation tissue. Inflammation is present. The lesion may have a fibrous character if it is older, and the surface may have ulcerations. Pyogenic granulomas rarely occur in the conjunctiva, cornea or connective tissue of the eye following minor local trauma. Grossly these mass lesions resemble those occurring at more common sites. The relationship of these lesions to lobular capillary hemangiomas of skin and oropharyngeal mucosa commonly referred to as pyogenic granuloma is uncertain.[citation needed]
* * *
### Associated conditions[edit]
Due to its overwhelming incidence on the gingiva, the condition is often associated with two other diseases, though not because they occur together. Instead, the three are associated with each other because they appear frequently on gingiva—peripheral giant cell granuloma and peripheral ossifying fibroma. Detailed analysis can be used to distinguish these conditions.[10]
## Cause[edit]
Pyogenic granulomas are caused by proliferation of capillaries and are not caused by infection or cancer.
## Diagnosis[edit]
Characteristics of pyogenic granuloma on microscopy.
A doctor will likely be able to diagnose a pyogenic granuloma based on its appearance, and might perform a biopsy to make a more accurate diagnosis. A biopsy also helps rule out malignant (cancerous) medical conditions that can cause a similar kind of growth. These conditions include squamous cell carcinoma, basal cell carcinoma, and melanoma.
Histopathological examination shows multiple capillaries (due to the vascular nature of the tumour), neutrophils (pyogenic) and necrotic tissue.
## Management[edit]
Although pyogenic granulomas are not infectious or cancer, treatment may be considered because of bleeding or ulceration. Frequently, pyogenic granulomas are treated with electrodesiccation (cauterization) and curettage (excision), though laser treatment using pulsed dye laser or CO2 laser is often effective.[11][12]
Several reports have demonstrated the efficacy of topical application of the beta-adrenergic antagonist timolol in the treatment of pediatric pyogenic granuloma.[13]
There is usually no treatment if the pyogenic granuloma occurs during pregnancy since the lesion may heal spontaneously. Recurrent bleeding in either oral or nasal lesions may necessitate excision and cauterization sooner, however. If aesthetics are a concern, then treatment may be pursued as well. Usually, only minor surgery may be needed, along with a dental cleaning for oral lesions to remove any calculus or other source of irritation. For nasal lesions, nose-picking should be discouraged.
## Prognosis[edit]
Prognosis is usually good, however recurrence may happen with rate up to 16%. Presence of myxoid structures in the pyogenic granuloma may be the main cause of recurrence.[14]
## History[edit]
Pyogenic granulomas were first described in 1897 by two French surgeons, Antonin Poncet and Dor, who named these lesions botryomycosis hominis.[15]
## Terminology[edit]
The name pyogenic granuloma is misleading as it is neither pyogenic or a true granuloma. In actuality, it is a capillary hemangioma of lobular subtype, which is why such a lesion is prone to bleeding.[5] It is also not truly pyogenic (pus-producing), as the cause is hormonal or traumatic and has no association with infection or pus production.
## See also[edit]
* Trumpeter's wart
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ Nat Pernick. "Oral cavity & oropharynx - Other nonneoplastic - Pyogenic granuloma". PathologyOutlines. Topic Completed: 1 November 2013. Minor changes: 12 October 2020
4. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
5. ^ a b Jafarzadeh, Hamid; Sanatkhani, Majid; Mohtasham, Nooshin (2006). "Oral pyogenic granuloma: a review". Journal of Oral Science. 48 (4): 167–175. doi:10.2334/josnusd.48.167. ISSN 1343-4934.
6. ^ Nthumba, Peter M. (31 March 2008). "Giant pyogenic granuloma of the thigh: a case report". Journal of Medical Case Reports. 2 (1): 95. doi:10.1186/1752-1947-2-95. ISSN 1752-1947. PMC 2329656. PMID 18377654.
7. ^ Rockafellow, Andrew; Florin, Whitney; Philipone, Elizabeth; Koslovsky, David (2015). "Pregnancy Tumor in a 31-Year-Old Female with a Facial Port-Wine Stain". Case Reports in Dentistry. 2015: 1–6. doi:10.1155/2015/472605. Retrieved 25 December 2020.
8. ^ Lee, Joyce; Lynde, Charles (1 November 2001). "Pyogenic Granuloma: Pyogenic Again? Association betweenPyogenic Granuloma and Bartonella". Journal of Cutaneous Medicine and Surgery: IncorporatingMedical and Surgical Dermatology. 5 (6): 467–470. doi:10.1007/s10227-001-0022-0. ISSN 1203-4754. PMID 11907853. S2CID 7408146.
9. ^ Levy, Itzhak; Rolain, Jean-Marc; Lepidi, Hubert; Raoult, Didler; Feinmesser, Meora; Lapidoth, Moshe; Ben-Amitai, Dan (December 2005). "Is pyogenic granuloma associated with Bartonella infection?". Journal of the American Academy of Dermatology. 53 (6): 1065–1066. doi:10.1016/j.jaad.2005.08.046. ISSN 0190-9622. PMID 16310070.
10. ^ Salum, F. G.; Yurgel, L. S.; Cherubini, K.; De Figueiredo, M. a. Z.; Medeiros, I. C.; Nicola, F. S. (May 2008). "Pyogenic granuloma, peripheral giant cell granuloma and peripheral ossifying fibroma: retrospective analysis of 138 cases". Minerva Stomatologica. 57 (5): 227–232. ISSN 0026-4970. PMID 18496485.
11. ^ Pagliai, Kelley A.; Cohen, Bernard A. (2004). "Pyogenic Granuloma in Children". Pediatric Dermatology. 21 (1): 10–13. doi:10.1111/j.0736-8046.2004.21102.x. ISSN 1525-1470. PMID 14871318.
12. ^ Tay, Yong-Kwang; Weston, William L.; Morelli, Joseph G. (1 March 1997). "Treatment of Pyogenic Granuloma in Children With the Flashlamp-pumped Pulsed Dye Laser". Pediatrics. 99 (3): 368–370. doi:10.1542/peds.99.3.368. ISSN 0031-4005. PMID 9041290.
13. ^ Lee, Lara Wine; Goff, Kiera L.; Lam, Joseph M.; Low, David W.; Yan, Albert C.; Castelo‐Soccio, Leslie (2014). "Treatment of Pediatric Pyogenic Granulomas Using β-Adrenergic Receptor Antagonists". Pediatric Dermatology. 31 (2): 203–207. doi:10.1111/pde.12217. ISSN 1525-1470. PMID 24138457.
14. ^ Al-shiaty, RA; Ottoman, BAE (May 2015). "Recurrent pyogenic granuloma: an update". International Journal of Scientific Reports. 1 (1): 22–31. doi:10.18203/issn.2454-2156.intjscirep20150196.
15. ^ Ferry, Andrew P.; Zimmerman, Lorenz E. (1 August 1965). "Granuloma Pyogenicum of Limbus: Simulating Recurrent Squamous Cell Carcinoma". Archives of Ophthalmology. 74 (2): 229–230. doi:10.1001/archopht.1965.00970040231019. ISSN 0003-9950.
## External links[edit]
Classification
D
* ICD-10: L98.0
* ICD-9-CM: 686.1
* MeSH: D017789
* DiseasesDB: 29385
* SNOMED CT: 200722003
External resources
* MedlinePlus: 001464
* eMedicine: ped/1244
* 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
* 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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Pyogenic granuloma
|
c0085653
| 27,885 |
wikipedia
|
https://en.wikipedia.org/wiki/Pyogenic_granuloma
| 2021-01-18T18:35:26 |
{"mesh": ["D017789"], "icd-9": ["686.1"], "icd-10": ["L98.0"], "wikidata": ["Q1571254"]}
|
## Summary
### Clinical characteristics.
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) have been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.
### Diagnosis/testing.
The diagnosis of ATL1-HSP is established in a proband with suggestive findings and almost exclusively a heterozygous pathogenic variant in ATL1 identified by molecular genetic testing. Note: The exceptions are two families with biallelic ATL1 pathogenic variants.
### Management.
Treatment of manifestations: Treatment is symptomatic. Medical treatment of spasticity may begin with oral baclofen or tizanidine, followed by chemodenervation with botulinum A or B toxins if oral antispasticity medications are not tolerated. Intrathecal baclofen pump may be considered for those who improve on oral baclofen but have significant systemic adverse effects. Medical therapy should be combined with intensive physical therapy focused on stretching and strengthening exercises that may help delay or minimize muscle tendon contractures, scoliosis, and foot deformities. Distal weakness (typically affecting foot dorsiflexion) can be ameliorated by ankle-foot orthoses. Urinary urgency can be treated with anticholinergic antispasmodic drugs.
Surveillance: No consensus exists regarding the frequency of clinical follow-up visits, but reevaluation once or twice yearly to identify and treat new complications is recommended.
Agents/circumstances to avoid: Dantrolene, as it can induce irreversible weakness, adversely affecting mobility.
### Genetic counseling.
ATL1-HSP is almost exclusively inherited in an autosomal dominant manner. More than 95% of individuals diagnosed with SPG3A have an affected parent; the proportion of individuals with ATL1-HSP caused by a de novo pathogenic variant is currently unknown. Each child of an individual with ATL1-HSP has a 50% chance of inheriting the pathogenic variant. Once the ATL1 pathogenic variant has been identified in a family member with autosomal dominant ATL1-HSP, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
## Diagnosis
### Suggestive Findings
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) should be suspected in individuals with the following clinical findings and family history.
Clinical findings
* Early age of onset, from infancy to ten years (average age: 4 years)
* Progressive bilateral and mostly symmetric lower-extremity weakness and spasticity resulting from axonal degeneration of the corticospinal tracts
* Diminished vibration sense caused by impairment of dorsal columns
* Urinary bladder hyperactivity
Family history consistent with autosomal dominant inheritance, including affected males and females in multiple generations and simplex cases (i.e., a single occurrence in a family). Absence of a known family history does not preclude the diagnosis.
### Establishing the Diagnosis
The diagnosis of ATL1-HSP is established in a proband with suggestive findings and almost exclusively a heterozygous pathogenic variant in ATL1 identified by molecular genetic testing (see Table 1). Note: The exceptions are two families with biallelic ATL1 pathogenic variants.
Note: Identification of a heterozygous ATL1 variant of uncertain significance does not establish or rule out a diagnosis of ATL1-HSP.
Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of ATL1-HSP has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
A hereditary spastic paraplegia (HSP) multigene panel that includes ATL1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
Comprehensive genomic testing does not require the clinician to determine which gene is likely involved. Exome sequencing is most commonly used; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Spastic Paraplegia 3A
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
ATL1Sequence analysis 3~99% 4
Gene-targeted deletion/duplication analysis 5One reported 4, 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Dürr et al [2004], Ivanova et al [2007], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Meijer et al [2007]
## Clinical Characteristics
### Clinical Description
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by slowly progressive bilateral and mostly symmetric spasticity and weakness of the legs, and with a variable degree of diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity. The average age of onset is four years; more than 80% of affected individuals manifest spastic gait before age ten years. The rate of progression is slow; wheelchair dependency or need for an assistive walking device is relatively rare.
Most persons with early-onset ATL1-HSP have a "pure" or "uncomplicated" hereditary spastic paraplegia (HSP) phenotype. However, complex HSP phenotypes with axonal motor neuropathy and/or distal amyotrophy (like that observed in the Silver syndrome phenotype) have also been reported [Scarano et al 2005, Ivanova et al 2007, Salameh et al 2009]. In complicated forms with spastic quadriparesis, involvement of bulbar muscles can result in dysphagia and dysarthria [Yonekawa et al 2014].
Findings also seen in ATL1-HSP can include pes cavus deformities and scoliosis, possibly attributable to the early age of onset.
Other phenotypes observed in the spectrum of ATL1-HSP include the following:
* Adult-onset ATL1-HSP. Although it has been suggested that ATL1-HSP is a neurodevelopmental rather than a neurodegenerative disorder, identification of individuals with adult-onset ATL1-HSP argues strongly against this hypothesis [Sauter et al 2004, Zhu et al 2006]. Persons with adult-onset ATL1-HSP also tend to experience slower disease progression.
* Hereditary sensory neuropathy type ID (HSN1D), an axonal form of autosomal dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. A pathogenic ATL1 missense variant was identified in a single family with HSN1D, in whom other known causative genes had been excluded [Guelly et al 2011, Leonardis et al 2012]. Two additional ATL1 variants were identified in 115 unrelated individuals with the HSN1D phenotype [Guelly et al 2011].
* Clinical presentation with a pure autonomic failure followed by the development of spastic paraplegia was reported in one individual with a novel pathogenic ATL1 splice site variant in exon 2 [Shin et al 2014]. Whether this represents an allelic condition or an atypical presentation of ATL1-HSP remains to be elucidated.
* Clinical presentation mimicking a severe neonatal-onset cerebral palsy with quadriparesis was reported in an individual with a de novo ATL1 pathogenic variant [Yonekawa et al 2014]. The individual also experienced abnormal speech and swallowing with pseudobulbar palsy. Electrophysiologic studies showed axonal polyneuropathy.
Findings not universally seen in ATL1-HSP compared to other forms of autosomal dominant HSP include the following [Dürr et al 2004]:
* Hyperreflexia of the upper extremities
* Impairment of vibration sensation at the ankles
* Urinary bladder hyperactivity
### Genotype-Phenotype Correlations
No specific genotype-phenotype correlations have been reported; however:
* Early-onset disease has been associated with missense variants around the GTPase binding domain.
* Late-onset disease has been associated with frameshift variants in the C terminus that result in premature truncation of the protein, as well as some missense variants in the GTPase binding domain [Tessa et al 2002, Sauter et al 2004].
### Penetrance
Overall, penetrance of pathogenic variants is high (~80%-90%) [Dürr et al 2004]. In many familial cases, individuals with a heterozygous ATL1 pathogenic variant had a normal neurologic examination even at an advanced age, arguing against significant age-dependent penetrance [Dürr et al 2004].
The lowest penetrance, 30%, was reported for the p.Arg415Trp heterozygous pathogenic variant detected in three affected individuals but also in nine unaffected family members [D'Amico et al 2004]. Reduced penetrance of this variant was also observed in additional families in which mostly females were unaffected, suggesting (incorrectly) X-linked inheritance [Varga et al 2013].
### Prevalence
Prevalence of autosomal dominant (AD) HSP has been estimated at 0.5-5:100,000 [McMonagle et al 2002, Ruano et al 2014].
SPG3A is the third most common cause of AD HSP in all age groups. Metanalysis of epidemiologic studies suggested that SPG3A accounts for about 5% of all AD HSP, with an estimated prevalence of 0.025-0.25:100,000 [Erfanian Omidvar et al 2019]. This estimated frequency of SPG3A is lower than previously reported, at 10%-15% of all AD HSP [Fink et al 1996].
SPG3A, the most common cause of early onset of AD HSP before age ten years, accounts for 40% of AD HSP in this age group [Dürr et al 2004].
## Differential Diagnosis
Hereditary spastic paraplegia (HSP) is a progressive condition with a gradual worsening of spasticity and weakness of the lower extremities. Overall, the age of onset, disease severity, and rate of progression differ among different types of autosomal dominant (AD) HSP; there is also considerable variability within the same genetic forms of HSP. For a general discussion of the differential diagnosis of spastic paraplegia/paraparesis syndrome, see Hereditary Spastic Paraplegia Overview.
ATL1 pathogenic variants have been confirmed as the most common cause of early-onset HSP, accounting for approximately 30%-50% of all AD HSP with onset before age ten years [Abel et al 2004, Dürr et al 2004].
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) accounts for approximately 5% of all AD HSP [Erfanian Omidvar et al 2019], which is lower than previous estimates of 10%-15% [Fink et al 1996]. In an analysis of a large cohort of individuals in whom a SPAST (formerly known as SPG4) pathogenic variant was not identified, 40% had pathogenic variants in ATL1 [Dürr et al 2004].
ATL1-HSP needs to be differentiated from other forms of AD HSP (see Table 2).
### Table 2.
Autosomal Dominant Hereditary Spastic Paraplegias of Interest in the Differential Diagnosis of Spastic Paraplegia 3A
View in own window
GeneDisorderClinical Features of Differential Diagnosis Disorder 1
KIF5ASPG10
* Axonal motor neuropathy common 2
* Probably 2nd most common cause of early-onset AD HSP
NIPA1SPG6
* Occasionally manifests in infancy 3
* Probably most aggressive form of AD HSP
* → wheelchair dependency in a relatively short period of time
REEP2SPG72
* Early age of onset (age <4 yrs)
* Mild postural tremor common 4
SLC33A1SPG42
* May have onset in 1st decade
* Mild, minimally progressive clinical course
* Pes cavus & distal amyotrophy common 5
* Reported in a single family
SPASTSPG4
* Occasionally presents in infancy
* Tends to have more progressive course 4
* Most common type of AD HSP
RTN2SPG12
* Usual onset age <10 yrs 6
* Uncomplicated phenotype
AD HSP = autosomal dominant hereditary spastic paraplegia
1\.
See Hereditary Spastic Paraplegia Overview.
2\.
Reid et al [2002]
3\.
Bien-Willner et al [2006]
4\.
Esteves et al [2014]
5\.
Blair et al [2007]
6\.
Montenegro et al [2012]
Cerebral palsy. Additional considerations for ATL1-HSP include a diplegic or quadriplegic form of cerebral palsy, as the majority of such individuals tend to have very early onset of clinical manifestations and a slow progression, which may suggest a static clinical course [Rainier et al 2006, Yonekawa et al 2014, Andersen et al 2016]. The presence of a positive family history with an affected parent typically does not present any diagnostic dilemmas. However, incomplete penetrance or a de novo ATL1 pathogenic variant (i.e., an apparently negative family history) may lead to the diagnosis of diplegia caused by periventricular leukomalacia or perinatal hypoxic-ischemic injury. Normal pre- and perinatal history and unremarkable neuroimaging should prompt consideration of HSP, including ATL1-HSP.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with spastic paraplegia 3A (SPG3A; also known as ATL1-HSP), the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 3.
Recommended Evaluations Following Initial Diagnosis in Individuals with Spastic Paraplegia 3A
View in own window
System/ConcernEvaluationComment
SpasticityNeurologic examAssess degree of spasticity. 1
Motor & sensory
neuropathyNCV, EMG
MusculoskeletalPhysical medicine & rehabilitation / PT evalTo include assessment of:
* Muscle tone; joint range of motion; posture; mobility; strength, coordination, & endurance; pain; bedsores
* Need for adaptive devices
* Footwear needs
* Physical therapy needs
OrthopedicsTo assess for scoliosis, foot deformities
OT
* To assess small motor function, e.g., hands, feet, face, fingers, & toes
* To assess ADLs
Bladder functionReferral to urologist; consider urodynamic eval.To address spastic bladder symptoms: urgency, frequency, difficulty voiding
Bowel functionReferral to gastroenterologistTo assess constipation & fecal incontinence 1
Bulbar muscle
weaknessAssessment by speech/language pathologist
* Speech disorder (dysarthria)
* Swallowing disorder (dysphagia)
Genetic counselingBy genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of ATL1-HSP to facilitate medical & personal decision making
Family support/
resourcesAssess:
* Use of community or online resources such as Parent to Parent;
* Need for social work involvement for caregiver support.
Based on information provided by Spastic Paraplegia Foundation
ADLs = activities of daily living; EMG = electromyography; NCV = nerve conduction velocity; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy
1\.
Spastic Paraplegia Rating Scale (SPRS) [Schüle et al 2006]
2\.
Medical geneticist, certified genetic counselor, or certified advanced genetic nurse
### Treatment of Manifestations
Treatment for spasticity, distal weakness, and urinary bladder dysfunction (the primary manifestations of ATL1-HSP) is symptomatic. See Table 4.
Management by multidisciplinary specialists including a physiatrist, physical therapist, and speech therapist is recommended.
### Table 4.
Treatment of Manifestations in Individuals with Spastic Paraplegia 3A
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Spasticity /
Distal weaknessIndividualized PT program
* Stretching exercises to improve flexibility, ↓ spasticity, & maintain or improve joint range of motion & prevent joint contractures 1
* Aerobic exercise to improve cardiovascular fitness to maintain & improve muscle strength, coordination, & balance
* Strengthening exercises to improve posture, walking, arm strength to improve use of mobility aids, ADLs
Reduction of spasticity
* Massage, ultrasound, electrical stimulation, whirlpool
* Anodal spinal direct current stimulation 2
Antispasmodic drugsBaclofen, botulinum toxin, dantrolene, tizanidine (used 1 at a time), 3 especially early in disease course to ↓ cramps, make leg muscles less tight, & facilitate walking
MusculoskeletalCorrection & stabilization of scoliosisOrthopedic consult for management of scoliosis: bracing, possible spinal surgery
Correction of pes cavusPhysical therapy for pes cavus, orthotics, botulinum toxin therapy, possible corrective surgery by orthopedic surgery
Bladder dysfunctionSpastic bladder symptoms: urgency, frequency, difficulty voiding, incontinenceTreatment can incl anticholinergics such as oxybutynin (Ditropan XL®), solifenacin (Vesicare®), and mirabegron (Myrbetriq®).
DysphagiaGastroenterologist / nutrition / feeding team eval
* Determine exact cause of swallowing malfunction.
* Modify food types & consistency, head positioning during swallowing, & exercises to improve swallowing.
DysarthriaSpeech/language pathologistTo help maintain vocal control, improve speech, breathing techniques, & communication in general
Bowel functionSymptoms: constipation & fecal incontinenceStool softeners
Mobility & ADLsPT
* Feet: appropriate footwear; orthotics (shoe inserts, splints, braces) to address gait problems, improve balance, relieve &/or improve pressure sores
* Gait training; use of assistive walking devices (e.g., canes, walker, walker w/wheels, walker w/seat, wheelchairs)
* Transfers (e.g., from bed to wheelchair, wheelchair to car)
* Training how to fall to minimize risk of injury
OT
* To accomplish tasks such as mobility, washing, dressing, eating, cooking, grooming
* To assist w/household modifications to meet special needs
Social supportSocial services & support groupsTo help cope w/diagnosis
ADLs = activities of daily living; PT = physical therapy/therapist; OT = occupational therapy/therapist
1\.
The role of surgical hamstring and heel cord lengthening and release of the adductor longus remains unknown, but should be considered if contractures appear.
2\.
Demonstrated by Ardolino et al [2018] in a randomized controlled trial
3\.
Baclofen can be tried first, and can be used with an intrathecal pump in some cases. The entire therapeutic range of doses in all four drugs is used. The drugs are administered before sleep if nocturnal cramps are problematic, otherwise three to four times per day. It usually takes a few days for their effects to become evident. No significant toxicity limits their use.
### Surveillance
There is no consensus regarding the frequency of clinical follow-up visits, but routine reevaluations are warranted (see Table 5).
### Table 5.
Recommended Surveillance for Individuals with Spastic Paraplegia 3A
View in own window
System/ConcernEvaluationFrequency
SpasticityNeurologic exam re disease progression & response to current treatment1-2x/yr
Bladder functionPer treating urologist, including monitoring for urinary tract infection
DysphagiaGastroenterologist / nutrition / feeding team re nutrition & risk for aspiration
DysarthriaPer neurologic assessment & speech/language assessment
ScoliosisGeneral medical exam of musculoskeletal system
Bowel functionPer symptoms
Mobility & ADLsRehabilitation medicine, PT, & OT
ADLs = activities of daily living; PT = physical therapist; OT = occupational therapist
### Agents/Circumstances to Avoid
Dantrolene should be avoided in persons who are ambulatory as it may induce irreversible weakness, which can adversely affect overall mobility.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
The use of regional anesthesia, such as spinal or epidural anesthesia, during delivery in women with ATL1-HSP and spinal cord involvement has traditionally been avoided due to the theoretic risk of exacerbating the degree of weakness and spasticity. However, several instances of successful regional anesthesia in individuals with hereditary spastic paraplegia have been reported [Thomas et al 2006, Ponsonnard et al 2017].
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Spastic Paraplegia 3A
|
c2931355
| 27,886 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK45978/
| 2021-01-18T20:56:05 |
{"mesh": ["C536864"], "synonyms": ["ATL1-HSP", "SPG3A"]}
|
Intersex condition that results in a phenotypic female
Complete androgen insensitivity syndrome
Other namesComplete androgen resistance syndrome
AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body.
SpecialtyGynaecology, endocrinology
Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens.[1][2][3] As such, the insensitivity to androgens is only clinically significant when it occurs in individuals with a Y chromosome or, more specifically, an SRY gene.[1] The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development[3][4] in those with the condition.
All human fetuses begin fetal development looking similar, with both the Müllerian duct system (female) and the Wolffian duct system (male) developing. It is at the seventh week of gestation that the bodies of unaffected individuals with the XY karyotype begin their masculinization: i.e, the Wolffian duct system is promoted and the Müllerian duct system is suppressed (the reverse happens with typically developing females). This process is triggered by androgens produced by the gonads, which in individuals with the XX karyotype had earlier become ovaries, but in XY individuals typically had become testicles due to the presence of the Y Chromosome. The cells of unaffected XY individuals then masculinize by, among other things, enlarging the genital tubercle into a penis, which in females becomes the clitoris, while what in females becomes the labia fuses to become the scrotum of males (where the testicles will later descend).
Individuals affected by CAIS develop a normal external female habitus, despite the presence of a Y chromosome,[1][5][6][7][8][9] but internally, they will lack a uterus, and the vaginal cavity will be shallow, while the gonads, having been turned into testicles rather than ovaries in the earlier separate process also triggered by their Y chromosome, will remain undescended in the place where the ovaries would have been. This results not only in infertility individuals with CAIS, but also presents a risk of gonadal cancer later on in life.[10]
CAIS is one of the three categories of androgen insensitivity syndrome (AIS) since AIS is differentiated according to the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) when the external genitalia is that of a typical female, mild androgen insensitivity syndrome (MAIS) when the external genitalia is that of a typical male, and partial androgen insensitivity syndrome (PAIS) when the external genitalia is partially, but not fully masculinized.[1][2][5][6][7][11][12][13][14]
Androgen insensitivity syndrome is the largest single entity that leads to 46, XY undermasculinization.[15]
## Contents
* 1 Signs and symptoms
* 1.1 Physical
* 1.2 Endocrine
* 1.3 Comorbidity
* 2 Diagnosis
* 3 Management
* 3.1 Sex assignment and sexuality
* 3.2 Dilation therapy
* 3.3 Gonadectomy
* 3.4 Hormone replacement therapy
* 3.5 Counseling
* 3.6 Neovaginal construction
* 4 Prognosis
* 5 Epidemiology
* 6 Nomenclature
* 7 History
* 8 People with CAIS
* 9 See also
* 10 References
* 11 External links
## Signs and symptoms[edit]
### Physical[edit]
Persons with a complete androgen insensitivity have a typical female external phenotype, despite having a 46,XY karyotype.[16][17]
Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype.[18] Symptoms of CAIS do not appear until puberty,[2] which may be slightly delayed,[19] but is otherwise normal except for absent menses and diminished or absent secondary terminal hair.[1] Axillary hair (i.e. armpit hair) fails to develop in one third of all cases.[20] External genitalia is normal, although the labia and clitoris are sometimes underdeveloped.[21][22] Vaginal depth varies widely for CAIS women, but is typically shorter than unaffected women;[1] one study of eight women with CAIS measured the average vaginal depth to be 5.9 cm [23] (vs. 11.1 ± 1.0 cm for unaffected women [24]). In some extreme cases, the vagina has been reported to be aplastic (resembling a "dimple"), though the exact incidence of this is unknown.[25]
The gonads in these women are not ovaries, but instead, are testes; during the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome.[26][27] They may be located intra-abdominally, at the internal inguinal ring, or may herniate into the labia majora, often leading to the discovery of the condition.[1][28][29][30] Testes in affected women have been found to be atrophic upon gonadectomy.[31] Testosterone produced by the testes cannot be directly used due to the mutant androgen receptor that characterizes CAIS; instead, it is aromatized into estrogen, which effectively feminizes the body and accounts for the normal female phenotype observed in CAIS.[1]
Immature sperm cells in the testes do not mature past an early stage, as sensitivity to androgens is required in order for spermatogenesis to complete.[32][33] Germ cell malignancy risk, once thought to be relatively high, is now thought to be approximately 2%.[34] Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) are typically absent, but will develop at least partially in approximately 30% of cases, depending on which mutation is causing the CAIS.[35] The prostate, like the external male genitalia, cannot masculinize in the absence of androgen receptor function, and thus remains in the female form.[18][36][37][38]
The Müllerian system (the fallopian tubes, uterus, and upper portion of the vagina) typically regresses due to the presence of anti-Müllerian hormone originating from the Sertoli cells of the testes.[19] These women are thus born without fallopian tubes, a cervix, or a uterus,[19] and the vagina ends "blindly" in a pouch.[1] Müllerian regression does not fully complete in approximately one third of all cases, resulting in Müllerian "remnants".[19] Although rare, a few cases of women with CAIS and fully developed Müllerian structures have been reported. In one exceptional case, a 22-year-old with CAIS was found to have a normal cervix, uterus, and fallopian tubes.[39] In an unrelated case, a fully developed uterus was found in a 22-year-old adult with CAIS.[38]
Other subtle differences that have been reported include slightly longer limbs and larger hands and feet due to a proportionally greater stature than unaffected women,[40][41][42] larger teeth,[43][44] minimal or no acne,[45] well developed breasts,[46] and a greater incidence of meibomian gland dysfunction (i.e. dry eye syndromes and light sensitivity).[47]
### Endocrine[edit]
Hormone levels have been reported in gonadally intact CAIS women in a number of studies.[48][49] Hormone levels are similar to those of males, including high testosterone levels and relatively low estradiol levels.[48][49] However, luteinizing hormone (LH) levels are elevated while sex hormone-binding globulin (SHBG) levels are more consistent with those of females.[48][49][50] Women with CAIS have low levels of progesterone similarly to males.[51][52][53] The production rates of testosterone, estradiol, and estrone have been reported to be higher in gonadally intact CAIS women than in men.[54][55]
* v
* t
* e
Hormone levels in gonadally intact adolescent and adult females with complete androgen insensitivity syndrome Schindler (1975) Blumenthal (1982) Melo (2003) Audi (2010) Doehnert (2015) King (2017) Reference ranges
Male Female
Location Tübingen, DE Johannesburg, ZA Sao Paulo, BR Barcelona, ES Lübeck, DE/Pisa, IT London, UK – –
Sample size (n) 4 4 8 11 42 31 – –
Age (years) ? (17–22) 19 (18–28) 16.5 (14–34) 20 (13.5–40) 17.3 (14–50) 19.7 (13.4–52.3) Adult Adult
LH (IU/L) ?a 70 (8–97) 26 (14–43) 10 (<0.1–35) 18.5 (5.5–51.1) 24.2 (13–59.1) 1–10 2–6.6
FSH (IU/L) ?a 14 (6–22) 7.4 (3.5–16) 2.3 (0.4–23.4) 3.5 (0.4–16.3) 4.6 (1.1–68.9) 1–7 2–6.6
Testosterone (ng/dL) 1040 ± 300 1356 (1240–1577) 346 (173–1040) 576 (144–1350) 576 (173–1450) 640 (233–1260) 346 (202–1010) 43 (20–86)
DHT (ng/dL) 79 ± 30 ? ? ? ? ? ? ?
Estradiol (pg/mL) 36.7 ± 7.1 40 (26–79) 30 (22–40) 33 (20–73) 31 (5–70) 35 (12–63) 30 (10–50) 80 (10–395)
Progesterone (ng/mL) 0.06 ± 0.02 0.96 (0.68–1.76) ? ? ? ? <0.6 <3.2–25
SHBG (nmol/L) ? ? ? 52 (22–128) 53 (15–99) ? 10–50 30–90
Notes: Values are mean (range) or mean ± standard deviation. Footnotes: a = LH = 73.2 ± 9.2 ng LER 907/mL, FSH = 40.2 ± 20.0 ng LER 907/mL. Sources: See template.
### Comorbidity[edit]
Histopathology of testicular tissue showing immature germ cells and spermatagonia with decreased tubular diameter. Scattered groups of Leydig cells appearing immature.[19]
All forms of androgen insensitivity, including CAIS, are associated with infertility, though exceptions have been reported for both the mild and partial forms.[4][5][7][56][57][58]
CAIS is associated with a decreased bone mineral density.[59][60][61][62][63][64] Some have hypothesized that the decreased bone mineral density observed in women with CAIS is related to the timing of gonadectomy and inadequate estrogen supplementation.[63] However, recent studies show that bone mineral density is similar whether gonadectomy occurs before or after puberty, and is decreased despite estrogen supplementation, leading some to hypothesize that the deficiency is directly attributable to the role of androgens in bone mineralization.[59][60][61][62]
CAIS is also associated with an increased risk for gonadal tumors (e.g. germ cell malignancy) in adulthood if gonadectomy is not performed.[34][65][66][67] The risk of malignant germ cell tumors in women with CAIS increases with age and has been estimated to be 3.6% at 25 years and 33% at 50 years.[67] The incidence of gonadal tumors in childhood is thought to be relatively low; a recent review of the medical literature [65] found that only three cases of malignant germ cell tumors in prepubescent girls have been reported in association with CAIS in the last 100 years. Some have estimated the incidence of germ cell malignancy to be as low as 0.8% before puberty.[1]
Vaginal hypoplasia, a relatively frequent finding in CAIS and some forms of PAIS,[23][25] is associated with sexual difficulties including vaginal penetration difficulties and dyspareunia.[21][25]
At least one study indicates that individuals with an intersex condition may be more prone to psychological difficulties, due at least in part to parental attitudes and behaviors,[68] and concludes that preventative long-term psychological counseling for parents as well as for affected individuals should be initiated at the time of diagnosis.
Lifespan is not thought to be affected by AIS.[1]
Despite the well-developed breasts in CAIS women, and for reasons that are not well-understood, breast cancer has never been reported in CAIS women and does not seem to occur or occurs only rarely.[69][70][71][72][73][74] Only a case report of juvenile fibroadenoma exists.[69][71][75] A few cases of breast cancer have been reported in individuals with partial androgen insensitivity syndrome however.[72][76][77]
## Diagnosis[edit]
Main article: Diagnosis of androgen insensitivity syndrome
Bilateral inguinal hernia. CAIS is not usually suspected until after puberty unless an inguinal hernia presents.[78]
CAIS can only be diagnosed in normal phenotypic females.[2] It is not usually suspected unless the menses fail to develop at puberty, or an inguinal hernia presents during premenarche.[1][2] As many as 1–2% of prepubertal girls that present with an inguinal hernia will also have CAIS.[1][19]
A diagnosis of CAIS or Swyer syndrome can be made in utero by comparing a karyotype obtained by amniocentesis with the external genitalia of the fetus during a prenatal ultrasound.[2][79] Many infants with CAIS do not experience the normal, spontaneous neonatal testosterone surge, a fact which can be diagnostically exploited by obtaining baseline luteinizing hormone and testosterone measurements, followed by a human chorionic gonadotropin (hGC) stimulation test.[1]
The main differentials for CAIS are complete gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH).[1][25] Both CAIS and Swyer syndrome are associated with a 46,XY karyotype, whereas MRKH is not; MRKH can thus be ruled out by checking for the presence of a Y chromosome, which can be done either by fluorescence in situ hybridization (FISH) analysis or on full karyotype.[1] Swyer syndrome is distinguished by the presence of a uterus, poor breast development and shorter stature.[1] The diagnosis of CAIS is confirmed when androgen receptor (AR) gene sequencing reveals a mutation, although up to 5% of individuals with CAIS do not have an AR mutation.[2]
Up until the 1990s, a CAIS diagnosis was often hidden from the affected individual, the individual's family, or both.[18] It is current practice to disclose the genotype at the time of diagnosis, particularly when the affected girl is at least of adolescent age.[18] If the affected individual is a child or infant, it is generally up to the parents, often in conjunction with a psychologist, to decide when to disclose the diagnosis.[18]
## Management[edit]
Management of AIS is currently limited to symptomatic management; methods to correct a malfunctioning androgen receptor protein that result from an AR gene mutation are not currently available. Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, and genetic and psychological counseling. Non-consensual interventions are still often performed, although general awareness on the resulting psychological traumatization is rising.[80]
### Sex assignment and sexuality[edit]
Most individuals with CAIS are raised as females.[1] They are born phenotypically female and usually have a heterosexual female gender identity;[41][81] However, at least two case studies have reported male gender identity in individuals with CAIS.[81][82]
Vaginal length in 8 women with CAIS before and after dilation therapy as first line treatment. The normal reference range (shaded) is derived from 20 control women. Duration and extent of therapy varied; the median time to completion of treatment was 5.2 months, and the median number of 30-minute dilations per week was 5.[23]
### Dilation therapy[edit]
Most cases of vaginal hypoplasia associated with CAIS can be corrected using non-surgical pressure dilation methods.[23][25] The elastic nature of vaginal tissue, as demonstrated by its ability to accommodate the differences in size between a tampon, a penis, and a baby's head,[83] make dilation possible even in cases when the vaginal depth is significantly compromised.[23][25] Treatment compliance is thought to be critical to achieve satisfactory results.[21][23][25] Dilation can also be achieved via the Vecchietti procedure, which stretches vaginal tissues into a functional vagina using a traction device that is anchored to the abdominal wall, subperitoneal sutures, and a mold that is placed against the vaginal dimple.[25] Vaginal stretching occurs by increasing the tension on the sutures, which is performed daily.[25] The non-operative pressure dilation method is currently recommended as the first choice, since it is non-invasive, and highly successful.[25] Vaginal dilation should not be performed before puberty.[34]
### Gonadectomy[edit]
While it is often recommended that women with CAIS eventually undergo gonadectomy to mitigate cancer risk,[1] there are differing opinions regarding the necessity and timing of gonadectomy.[84] The risk of malignant germ cell tumors in women with CAIS increases with age and has been estimated to be 3.6% at 25 years and 33% at 50 years.[67] However, only three cases of malignant germ cell tumors in prepubescent girls with CAIS have been reported in the last 100 years.[65] The youngest of these girls was 14 years old.[85] If gonadectomy is performed early, then puberty must be artificially induced using gradually increasing doses of estrogen.[1] If gonadectomy is performed late, then puberty will occur on its own, due to the aromatization of testosterone into estrogen.[1] At least one organization, the Australasian Paediatric Endocrine Group, classifies the cancer risk associated with CAIS as low enough to recommend against gonadectomy, although it warns that the cancer risk is still elevated above the general population, and that ongoing cancer monitoring is essential.[84] Some choose to perform gonadectomy if and when inguinal hernia presents.[1] Estrogen replacement therapy is critical to minimize bone mineral density deficiencies later in life.[61][63]
### Hormone replacement therapy[edit]
Some have hypothesized that supraphysiological levels of estrogen may reduce the diminished bone mineral density associated with CAIS.[61] Data has been published that suggests affected women who were not compliant with estrogen replacement therapy, or who had a lapse in estrogen replacement, experienced a more significant loss of bone mineral density.[60][61] Progestin replacement therapy is seldom initiated, due to the absence of a uterus.[1] Androgen replacement has been reported to increase a sense of well-being in gonadectomized women with CAIS, although the mechanism by which this benefit is achieved is not well understood.[1]
### Counseling[edit]
It is no longer common practice to hide a diagnosis of CAIS from the affected individual or her family.[18] Parents of children with CAIS need considerable support in planning and implementing disclosure for their child once the diagnosis has been established.[1][18] For parents with young children, information disclosure is an ongoing, collaborative process requiring an individualized approach that evolves in concordance with the child's cognitive and psychological development.[1] In all cases, the assistance of a psychologist experienced in the subject is recommended.[1][18]
### Neovaginal construction[edit]
Vaginal expander ZSI 200 NS
ZSI 200 NS vaginal expander stretching the female vagina
Many surgical procedures have been developed to create a neovagina, as none of them is ideal.[25] Surgical intervention should only be considered after non-surgical pressure dilation methods have failed to produce a satisfactory result.[25] Neovaginoplasty can be performed using skin grafts, a segment of bowel, ileum, peritoneum, an absorbable adhesion barrier (Interceed, made by Johnson & Johnson),[86][87] buccal mucosa, amnion, dura mater.[25][88][89] or with the support of vaginal stents/expanders.[90][91] Success of such methods should be determined by sexual function, and not just by vaginal length, as has been done in the past.[89] Ileal or cecal segments may be problematic because of a shorter mesentery, which may produce tension on the neovagina, leading to stenosis.[89] The sigmoid neovagina is thought to be self-lubricating, without the excess mucus production associated with segments of small bowel.[89] Vaginoplasty may create scarring at the introitus (the vaginal opening), which requires additional surgery to correct. Vaginal dilators are required postoperatively to prevent vaginal stenosis from scarring.[23][25] Inflatable vaginal stents are placed in the vagina deflated and then gently inflated.[92] Other complications include bladder and bowel injuries.[25] Yearly exams are required as neovaginoplasty carries a risk of carcinoma,[25] although carcinoma of the neovagina is uncommon.[88][89] Neither neovaginoplasty nor vaginal dilation should be performed before puberty.[25][34]
## Prognosis[edit]
Challenges presented to people affected by this condition include: psychologically coming to terms with the condition, difficulties with sexual function, infertility. Long-term studies indicate that with appropriate medical and psychological treatment, women with CAIS can be satisfied with their sexual function and psychosexual development.[41] CAIS women can lead active lives and expect a normal lifespan.
## Epidemiology[edit]
It is estimated that CAIS occurs in 1 in 20,400 to 1 in 99,000 individuals with a 46,XY karyotype.[93][94]
## Nomenclature[edit]
Main article: Other names for androgen insensitivity syndrome
Historically, CAIS has been referred to in the literature under a number of other names, including testicular feminization [syndrome] (deprecated) and Morris syndrome.[95][96] PAIS has also been referred to as Reifenstein syndrome, which should not be confused with CAIS.[95][96]
## History[edit]
The first definitive description of CAIS was reported in 1817.[97][98] The condition became more widely known after it was reviewed and named testicular feminization by American gynecologist John McLean Morris in 1953.[98]
## People with CAIS[edit]
* Georgiann Davis[99]
* Seven Graham[100]
## See also[edit]
* Complete estrogen insensitivity syndrome
## 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 Hughes IA, Deeb A (December 2006). "Androgen resistance". Best Pract. Res. Clin. Endocrinol. Metab. 20 (4): 577–98. doi:10.1016/j.beem.2006.11.003. PMID 17161333.
2. ^ a b c d e f g Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects". Hormones (Athens). 7 (3): 217–29. doi:10.14310/horm.2002.1201. PMID 18694860.
3. ^ a b Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (June 1995). "Androgen receptor defects: historical, clinical, and molecular perspectives". Endocr. Rev. 16 (3): 271–321. doi:10.1210/edrv-16-3-271. PMID 7671849.
4. ^ a b Giwercman YL, Nordenskjöld A, Ritzén EM, Nilsson KO, Ivarsson SA, Grandell U, Wedell A (June 2002). "An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity". J. Clin. Endocrinol. Metab. 87 (6): 2623–8. doi:10.1210/jc.87.6.2623. PMID 12050225.
5. ^ a b c Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C (April 2008). "Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility". Clin. Endocrinol. 68 (4): 580–8. doi:10.1111/j.1365-2265.2007.03069.x. PMID 17970778.
6. ^ a b Ferlin A, Vinanzi C, Garolla A, Selice R, Zuccarello D, Cazzadore C, Foresta C (November 2006). "Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations". Clin. Endocrinol. 65 (5): 606–10. doi:10.1111/j.1365-2265.2006.02635.x. PMID 17054461.
7. ^ a b c Stouffs K, Tournaye H, Liebaers I, Lissens W (2009). "Male infertility and the involvement of the X chromosome". Hum. Reprod. Update. 15 (6): 623–37. doi:10.1093/humupd/dmp023. PMID 19515807.
8. ^ Giwercman YL, Nikoshkov A, Byström B, Pousette A, Arver S, Wedell A (June 2001). "A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility". Clin. Endocrinol. 54 (6): 827–34. doi:10.1046/j.1365-2265.2001.01308.x. PMID 11422119.
9. ^ Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML (June 2003). "A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men". Fertil. Steril. 79 Suppl 3: 1647–8. doi:10.1016/s0015-0282(03)00256-5. PMID 12801573.
10. ^ Forman D, Pike M, Davey G, Dawson S, Baker K, Chilvers C, Oliver R, Coupland C (1994). "Aetiology of testicular cancer: association with congenital abnormalities, age at puberty, infertility, and exercise". British Medical Journal. 308 (6941): 1393–1398. doi:10.1136/bmj.308.6941.1393. PMC 2540340. PMID 7912596.
11. ^ Ozülker T, Ozpaçaci T, Ozülker F, Ozekici U, Bilgiç R, Mert M (January 2010). "Incidental detection of Sertoli-Leydig cell tumor by FDG PET/CT imaging in a patient with androgen insensitivity syndrome". Ann Nucl Med. 24 (1): 35–9. doi:10.1007/s12149-009-0321-x. PMID 19957213. S2CID 10450803.
12. ^ Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK (November 2007). "Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis". J. Clin. Endocrinol. Metab. 92 (11): 4319–26. doi:10.1210/jc.2007-1110. PMID 17684052.
13. ^ Kawate H, Wu Y, Ohnaka K, Tao RH, Nakamura K, Okabe T, Yanase T, Nawata H, Takayanagi R (November 2005). "Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients". J. Clin. Endocrinol. Metab. 90 (11): 6162–9. doi:10.1210/jc.2005-0179. PMID 16118342.
14. ^ Gottlieb B, Lombroso R, Beitel LK, Trifiro MA (January 2005). "Molecular pathology of the androgen receptor in male (in)fertility". Reprod. Biomed. Online. 10 (1): 42–8. doi:10.1016/S1472-6483(10)60802-4. PMID 15705293.
15. ^ Ahmed SF, Cheng A, Hughes IA (April 1999). "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome". Arch. Dis. Child. 80 (4): 324–9. doi:10.1136/adc.80.4.324. PMC 1717906. PMID 10086936.
16. ^ Jirásek JE, Simpson JL (1976). Disorders of sexual differentiation: etiology and clinical delineation. Boston: Academic Press. ISBN 978-0-12-644450-6.
17. ^ Gilbert SF (2000). Developmental biology. Sunderland, Mass: Sinauer Associates. ISBN 978-0-87893-243-6.
18. ^ a b c d e f g h Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (December 2008). "Complete androgen insensitivity syndrome--a review". J Pediatr Adolesc Gynecol. 21 (6): 305–10. doi:10.1016/j.jpag.2007.09.006. PMID 19064222.
19. ^ a b c d e f Nichols JL, Bieber EJ, Gell JS (2009). "Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants". Fertil. Steril. 91 (3): 932.e15–8. doi:10.1016/j.fertnstert.2008.09.027. PMID 18930210.
20. ^ Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ (July 2003). "Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene". J. Clin. Endocrinol. Metab. 88 (7): 3241–50. doi:10.1210/jc.2002-021658. PMID 12843171.
21. ^ a b c Minto CL, Liao KL, Conway GS, Creighton SM (July 2003). "Sexual function in women with complete androgen insensitivity syndrome". Fertil. Steril. 80 (1): 157–64. CiteSeerX 10.1.1.543.7011. doi:10.1016/S0015-0282(03)00501-6. PMID 12849818.
22. ^ Sinnecker GH, Hiort O, Nitsche EM, Holterhus PM, Kruse K (January 1997). "Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group". Eur. J. Pediatr. 156 (1): 7–14. doi:10.1007/s004310050542. PMID 9007482. S2CID 34427651.
23. ^ a b c d e f g Ismail-Pratt IS, Bikoo M, Liao LM, Conway GS, Creighton SM (July 2007). "Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome". Hum. Reprod. 22 (7): 2020–4. doi:10.1093/humrep/dem074. PMID 17449508.
24. ^ Weber AM, Walters MD, Schover LR, Mitchinson A (December 1995). "Vaginal anatomy and sexual function". Obstet Gynecol. 86 (6): 946–9. doi:10.1016/0029-7844(95)00291-X. PMID 7501345. S2CID 6528527.
25. ^ a b c d e f g h i j k l m n o p q Quint EH, McCarthy JD, Smith YR (March 2010). "Vaginal surgery for congenital anomalies". Clin Obstet Gynecol. 53 (1): 115–24. doi:10.1097/GRF.0b013e3181cd4128. PMID 20142648. S2CID 41259739.
26. ^ Achermann JC, Jameson JL (2006). "Disorders of sexual differentiation". In Hauser SL, Kasper DL, Fauci AS, Braunwald E, Longo DL (eds.). Harrison's endocrinology. New York: McGraw-Hill Medical Pub. Division. pp. 161–172. ISBN 978-0-07-145744-6.
27. ^ Simpson JL, Rebar RW (2002). Hung, Wellington, Becker, Kenneth L., Bilezikian, John P., William J Bremner (eds.). Principles and Practice of Endocrinology and Metabolism. Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 852–885. ISBN 978-0-7817-4245-0.
28. ^ Decaestecker K, Philibert P, De Baere E, Hoebeke P, Kaufman JM, Sultan C, T'Sjoen G (May 2008). "A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family". Fertil. Steril. 89 (5): 1260.e3–7. doi:10.1016/j.fertnstert.2007.04.057. PMID 17714709.
29. ^ Morris JM (June 1953). "The syndrome of testicular feminization in male pseudohermaphrodites". Am. J. Obstet. Gynecol. 65 (6): 1192–1211. doi:10.1016/0002-9378(53)90359-7. PMID 13057950.
30. ^ Müller J (October 1984). "Morphometry and histology of gonads from twelve children and adolescents with the androgen insensitivity (testicular feminization) syndrome". J. Clin. Endocrinol. Metab. 59 (4): 785–9. doi:10.1210/jcem-59-4-785. PMID 6480805.
31. ^ Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL (September 2001). "Genotype versus phenotype in families with androgen insensitivity syndrome". J. Clin. Endocrinol. Metab. 86 (9): 4151–60. doi:10.1210/jcem.86.9.7825. PMID 11549642.
32. ^ Johnston DS, Russell LD, Friel PJ, Griswold MD (June 2001). "Murine germ cells do not require functional androgen receptors to complete spermatogenesis following spermatogonial stem cell transplantation". Endocrinology. 142 (6): 2405–8. doi:10.1210/en.142.6.2405. PMID 11356688.
33. ^ Yong EL, Loy CJ, Sim KS (2003). "Androgen receptor gene and male infertility". Hum. Reprod. Update. 9 (1): 1–7. doi:10.1093/humupd/dmg003. PMID 12638777.
34. ^ a b c d Hughes IA, Houk C, Ahmed SF, Lee PA (July 2006). "Consensus statement on management of intersex disorders". Arch. Dis. Child. 91 (7): 554–63. doi:10.1136/adc.2006.098319. PMC 2082839. PMID 16624884.
35. ^ Hannema SE, Scott IS, Hodapp J, Martin H, Coleman N, Schwabe JW, Hughes IA (November 2004). "Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome". J. Clin. Endocrinol. Metab. 89 (11): 5815–22. doi:10.1210/jc.2004-0709. PMID 15531547.
36. ^ Roy AK, Lavrovsky Y, Song CS, Chen S, Jung MH, Velu NK, Bi BY, Chatterjee B (1999). Regulation of androgen action. Vitam. Horm. Vitamins & Hormones. 55. pp. 309–52. doi:10.1016/S0083-6729(08)60938-3. ISBN 9780127098555. PMID 9949684.
37. ^ Kokontis JM, Liao S (1999). Molecular action of androgen in the normal and neoplastic prostate. Vitam. Horm. Vitamins & Hormones. 55. pp. 219–307. doi:10.1016/s0083-6729(08)60937-1. ISBN 9780127098555. PMID 9949683.
38. ^ a b Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K (March 2009). "Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding". Fertil. Steril. 91 (3): 933.e23–8. doi:10.1016/j.fertnstert.2008.10.041. PMID 19062009.
39. ^ Chen CP, Chen SR, Wang TY, Wang W, Hwu YM (July 1999). "A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent müllerian structures, and germ cell tumors in dysgenetic gonads". Fertil. Steril. 72 (1): 170–3. doi:10.1016/S0015-0282(99)00169-7. PMID 10428170.
40. ^ Papadimitriou DT, Linglart A, Morel Y, Chaussain JL (2006). "Puberty in subjects with complete androgen insensitivity syndrome". Horm. Res. 65 (3): 126–31. doi:10.1159/000091592. PMID 16491011. S2CID 20105726.
41. ^ a b c Wisniewski AB, Migeon CJ, Meyer-Bahlburg HFL, Gearhart JP, Berkovitz GD, Brown TR, Money J (2000). "Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome". J Clin Endocrinol Metab. 85 (8): 2664–2669. doi:10.1210/jc.85.8.2664. PMID 10946863.
42. ^ Varrela J, Alvesalo L, Vinkka H (1984). "Body size and shape in 46,XY females with complete testicular feminization". Annals of Human Biology. 11 (4): 291–301. doi:10.1080/03014468400007191. PMID 6465836.
43. ^ Alvesalo L, Varrela J (September 1980). "Permanent tooth sizes in 46,XY females". American Journal of Human Genetics. 32 (5): 736–42. PMC 1686090. PMID 7424913.
44. ^ Pietilä K, Grön M, Alvesalo L (August 1997). "The craniofacial complex in karyotype 46,XY females". Eur J Orthod. 19 (4): 383–9. doi:10.1093/ejo/19.4.383. PMID 9308259.
45. ^ Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, Audran F, Poujol N, Georget V, Gobinet J, Jalaguier S, Auzou G, Nicolas JC (August 2002). "Disorders of androgen action". Semin. Reprod. Med. 20 (3): 217–28. doi:10.1055/s-2002-35386. PMID 12428202.
46. ^ Zachmann M, Prader A, Sobel EH, Crigler JF, Ritzén EM, Atarés M, Ferrandez A (May 1986). "Pubertal growth in patients with androgen insensitivity: indirect evidence for the importance of estrogens in pubertal growth of girls". J. Pediatr. 108 (5 Pt 1): 694–7. doi:10.1016/S0022-3476(86)81043-5. PMID 3701515.
47. ^ Cermak JM, Krenzer KL, Sullivan RM, Dana MR, Sullivan DA (August 2003). "Is complete androgen insensitivity syndrome associated with alterations in the meibomian gland and ocular surface?". Cornea. 22 (6): 516–21. doi:10.1097/00003226-200308000-00006. PMID 12883343. S2CID 29374194.
48. ^ a b c Bertelloni S, Dati E, Baroncelli GI, Hiort O (2011). "Hormonal management of complete androgen insensitivity syndrome from adolescence onward". Horm Res Paediatr. 76 (6): 428–33. doi:10.1159/000334162. PMID 22156544. S2CID 35239423.
49. ^ a b c King TF, Wat WZ, Creighton SM, Conway GS (August 2017). "Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy". Clin. Endocrinol. (Oxf). 87 (2): 136–140. doi:10.1111/cen.13368. PMID 28493277. S2CID 4877830.
50. ^ Heyns W (1977). "The steroid-binding beta-globulin of human plasma". Adv Steroid Biochem Pharmacol. 6: 59–79. PMID 339697.
51. ^ Antonio R. Gargiulo (23 December 2017). Yen & Jaffe's Reproductive Endocrinology E-Book: Physiology, Pathophysiology, and Clinical Management. Elsevier Health Sciences. pp. 250–. ISBN 978-0-323-58232-2.
52. ^ Schindler AE, Freidrich E, Keller E, Joel EW, Jaeger-Whitegiver ER (November 1975). "In vivo und in vitro Untersuchungen bei Patienten mit testikulärer Feminisierung" [In-vivo and in-vitro studies of patients with testicular feminization]. Arch Gynakol (in German). 219 (1–4): 584. doi:10.1007/BF00669260. PMID 1243499. S2CID 41243904.
53. ^ Blumenthal NJ, Lubbe F, Harnekar AB, Adno A (November 1982). "Complete androgen insensitivity". S. Afr. Med. J. 62 (22): 812–4. PMID 7147110.
54. ^ Adam H. Balen; Sarah M. Creighton; Melanie C. Davies; Richard Stanhope; Jane MacDougall (April 2004). Paediatric and Adolescent Gynaecology: A Multidisciplinary Approach. Cambridge University Press. pp. 282–. ISBN 978-0-521-80961-0.
55. ^ Soule SG, Conway G, Prelevic GM, Prentice M, Ginsburg J, Jacobs HS (December 1995). "Osteopenia as a feature of the androgen insensitivity syndrome". Clin. Endocrinol. (Oxf). 43 (6): 671–5. doi:10.1111/j.1365-2265.1995.tb00533.x. PMID 8736267.
56. ^ Chu J, Zhang R, Zhao Z, Zou W, Han Y, Qi Q, Zhang H, Wang JC, Tao S, Liu X, Luo Z (January 2002). "Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome". J. Clin. Endocrinol. Metab. 87 (1): 347–51. doi:10.1210/jc.87.1.347. PMID 11788673.
57. ^ Menakaya UA, Aligbe J, Iribhogbe P, Agoreyo F, Okonofua FE (May 2005). "Complete androgen insensitivity syndrome with persistent Mullerian derivatives: a case report". J Obstet Gynaecol. 25 (4): 403–5. doi:10.1080/01443610500143226. PMID 16091340. S2CID 25377683.
58. ^ Giwercman A, Kledal T, Schwartz M, Giwercman YL, Leffers H, Zazzi H, Wedell A, Skakkebaek NE (June 2000). "Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene". J. Clin. Endocrinol. Metab. 85 (6): 2253–9. doi:10.1210/jc.85.6.2253. PMID 10852459.
59. ^ a b Danilovic DL, Correa PH, Costa EM, Melo KF, Mendonca BB, Arnhold IJ (March 2007). "Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene". Osteoporos Int. 18 (3): 369–74. doi:10.1007/s00198-006-0243-6. PMID 17077943. S2CID 21378953.
60. ^ a b c Sobel V, Schwartz B, Zhu YS, Cordero JJ, Imperato-McGinley J (August 2006). "Bone mineral density in the complete androgen insensitivity and 5alpha-reductase-2 deficiency syndromes". J. Clin. Endocrinol. Metab. 91 (8): 3017–23. doi:10.1210/jc.2005-2809. PMID 16735493.
61. ^ a b c d e Marcus R, Leary D, Schneider DL, Shane E, Favus M, Quigley CA (March 2000). "The contribution of testosterone to skeletal development and maintenance: lessons from the androgen insensitivity syndrome". J. Clin. Endocrinol. Metab. 85 (3): 1032–7. doi:10.1210/jc.85.3.1032. PMID 10720035.
62. ^ a b Bertelloni S, Baroncelli GI, Federico G, Cappa M, Lala R, Saggese G (1998). "Altered bone mineral density in patients with complete androgen insensitivity syndrome". Horm. Res. 50 (6): 309–14. doi:10.1159/000023296. PMID 9973670. S2CID 22470669.
63. ^ a b c Soule SG, Conway G, Prelevic GM, Prentice M, Ginsburg J, Jacobs HS (December 1995). "Osteopenia as a feature of the androgen insensitivity syndrome". Clin. Endocrinol. 43 (6): 671–5. doi:10.1111/j.1365-2265.1995.tb00533.x. PMID 8736267.
64. ^ Muñoz-Torres M, Jódar E, Quesada M, Escobar-Jiménez F (August 1995). "Bone mass in androgen-insensitivity syndrome: response to hormonal replacement therapy". Calcif. Tissue Int. 57 (2): 94–6. doi:10.1007/BF00298426. PMID 7584881. S2CID 30714697.
65. ^ a b c Hannema SE, Scott IS, Rajpert-De Meyts E, Skakkebaek NE, Coleman N, Hughes IA (March 2006). "Testicular development in the complete androgen insensitivity syndrome". J. Pathol. 208 (4): 518–27. doi:10.1002/path.1890. PMID 16400621.
66. ^ Rutgers JL, Scully RE (1991). "The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases". Int. J. Gynecol. Pathol. 10 (2): 126–44. doi:10.1097/00004347-199104000-00002. PMID 2032766. S2CID 45886011.
67. ^ a b c Manuel M, Katayama PK, Jones HW (February 1976). "The age of occurrence of gonadal tumors in intersex patients with a Y chromosome". Am. J. Obstet. Gynecol. 124 (3): 293–300. doi:10.1016/0002-9378(76)90160-5. PMID 1247071.
68. ^ Slijper FM, Drop SL, Molenaar JC, de Muinck Keizer-Schrama SM (April 1998). "Long-term psychological evaluation of intersex children". Arch Sex Behav. 27 (2): 125–44. doi:10.1023/A:1018670129611. PMID 9562897. S2CID 8255476.
69. ^ a b Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (October 2012). "Androgen insensitivity syndrome" (PDF). Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698. S2CID 1602036.
70. ^ Tiefenbacher K, Daxenbichler G (2008). "The Role of Androgens in Normal and Malignant Breast Tissue". Breast Care (Basel). 3 (5): 325–331. doi:10.1159/000158055. PMC 2931104. PMID 20824027.
71. ^ a b Charles G. D. Brook; Peter Clayton; Rosalind Brown (22 September 2011). Brook's Clinical Pediatric Endocrinology. John Wiley & Sons. pp. 200–. ISBN 978-1-4443-1673-5.
72. ^ a b Adam H. Balen; Sarah M. Creighton; Melanie C. Davies; Jane MacDougall; Richard Stanhope (1 April 2004). Paediatric and Adolescent Gynaecology: A Multidisciplinary Approach. Cambridge University Press. pp. 284, 287. ISBN 978-1-107-32018-5.
73. ^ Shlomo Melmed; Kenneth S. Polonsky; P. Reed Larsen; Henry M. Kronenberg (12 May 2011). Williams Textbook of Endocrinology E-Book. Elsevier Health Sciences. pp. 909–. ISBN 978-1-4377-3600-7.
74. ^ Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA (August 2015). "Androgen insensitivity syndrome". Best Pract. Res. Clin. Endocrinol. Metab. 29 (4): 569–80. doi:10.1016/j.beem.2015.04.005. PMID 26303084.
75. ^ Davis SE, Wallace AM (2001). "A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast". Breast J. 7 (6): 430–3. doi:10.1046/j.1524-4741.2001.07610.x. PMID 11843857.
76. ^ Charles G. D. Brook; Mehul T. Dattani (16 February 2012). Handbook of Clinical Pediatric Endocrinology. John Wiley & Sons. pp. 54–. ISBN 978-1-119-96813-9.
77. ^ Hoefgen HR, Merritt DF (August 2015). "Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy". J Pediatr Adolesc Gynecol. 28 (4): e95–7. doi:10.1016/j.jpag.2014.08.005. PMID 26024935.
78. ^ Borisa AD, Puri Y, Wakade V, Alagappan C, Agarkhedkar N (2006). "Complete Androgen Insensitivity Syndrome Presenting as Bilateral Inguinal Hernia". Bombay Hosp J. 48: 668–673.
79. ^ Michailidis GD, Papageorgiou P, Morris RW, Economides DL (July 2003). "The use of three-dimensional ultrasound for fetal gender determination in the first trimester". Br J Radiol. 76 (907): 448–51. doi:10.1259/bjr/13479830. PMID 12857703.
80. ^ Jones, Tiffany (2017). "Intersex and Families: Supporting Family Members With Intersex Variations". Journal of Family Strengths. 17 (2).
81. ^ a b Kulshreshtha B, Philibert P, Eunice M, Khandelwal SK, Mehta M, Audran F, Paris F, Sultan C, Ammini AC (December 2009). "Apparent male gender identity in a patient with complete androgen insensitivity syndrome". Arch Sex Behav. 38 (6): 873–5. doi:10.1007/s10508-009-9526-2. PMID 19636694. S2CID 207089643.
82. ^ Tsjoen G, De Cuypere G, Monstrey S, Hoebeke P, Freedman FK, Appari M, Holterhus PM, Van Borsel J, Cools M (April 2010). "Male gender identity in complete androgen insensitivity syndrome". Arch. Sex. Behav. 40 (3): 635–638. doi:10.1007/s10508-010-9624-1. PMID 20358272. S2CID 19291058.
83. ^ Grover S (1996). "Stretch Yourself". Alias. 1: 76.
84. ^ a b Submission 88 to the Australian Senate inquiry on the involuntary or coerced sterilisation of people with disabilities in Australia, Australasian Paediatric Endocrine Group (APEG), 27 June 2013
85. ^ Hurt WG, Bodurtha JN, McCall JB, Ali MM (September 1989). "Seminoma in pubertal patient with androgen insensitivity syndrome". Am. J. Obstet. Gynecol. 161 (3): 530–1. doi:10.1016/0002-9378(89)90350-5. PMID 2782332.
86. ^ Motoyama S, Laoag-Fernandez JB, Mochizuki S, Yamabe S, Maruo T (May 2003). "Vaginoplasty with Interceed absorbable adhesion barrier for complete squamous epithelialization in vaginal agenesis". Am. J. Obstet. Gynecol. 188 (5): 1260–4. doi:10.1067/mob.2003.317. PMID 12748495.
87. ^ Jackson ND, Rosenblatt PL (December 1994). "Use of Interceed Absorbable Adhesion Barrier for vaginoplasty". Obstet Gynecol. 84 (6): 1048–50. PMID 7970464.
88. ^ a b Steiner E, Woernle F, Kuhn W, Beckmann K, Schmidt M, Pilch H, Knapstein PG (January 2002). "Carcinoma of the neovagina: case report and review of the literature". Gynecol. Oncol. 84 (1): 171–5. doi:10.1006/gyno.2001.6417. PMID 11748997.
89. ^ a b c d e Breech LL (2008). "Complications of vaginoplasty and clitoroplasty". In Teich S, Caniano DA (eds.). Reoperative pediatric surgery. Totowa, N.J: Humana. pp. 499–514. ISBN 978-1-58829-761-7.
90. ^ Barutçu, Ali; Akgüner, Muharrem (November 1998). "McIndoe Vaginoplasty with the Inflatable Vaginal Stent". Annals of Plastic Surgery. 41 (5): 568–9. doi:10.1097/00000637-199811000-00020. PMID 9827964.
91. ^ Coskun, Ayhan; Coban, Yusuf Kenan; Vardar, Mehmet Ali; Dalay, Ahmet Cemil (10 July 2007). "The use of a silicone-coated acrylic vaginal stent in McIndoe vaginoplasty and review of the literature concerning silicone-based vaginal stents: a case report". BMC Surgery. 7 (1). doi:10.1186/1471-2482-7-13. PMID 17623058.
92. ^ Antoniadis, N; Charles, G; Mejías, I; Pabón, R. "Vaginoplasty: modification to McIndoe techique using hemostatic gel sponge". Cirugía Plástica Ibero-Latinoamericana. 37 (1): 73–77.
93. ^ Shlomo Melmed; Kenneth S. Polonsky; P. Reed Larsen; Henry M. Kronenberg (11 November 2015). Williams Textbook of Endocrinology E-Book. Elsevier Health Sciences. pp. 933–. ISBN 978-0-323-34157-8.
94. ^ M. Sperling (1 January 2008). Pediatric Endocrinology. Elsevier Health Sciences. pp. 670–. ISBN 978-1-4160-4090-3.
95. ^ a b Mendoza N, Motos MA (January 2013). "Androgen insensitivity syndrome". Gynecol. Endocrinol. 29 (1): 1–5. doi:10.3109/09513590.2012.705378. PMID 22812659. S2CID 37882159.
96. ^ a b Mendoza, Nicolas; Rodriguez-Alcalá, Cristina; Motos, Miguel Angel; Salamanca, Alberto (2017). "Androgen Insensitivity Syndrome: An Update on the Management of Adolescents and Young People". Journal of Pediatric and Adolescent Gynecology. 30 (1): 2–8. doi:10.1016/j.jpag.2016.08.013. ISSN 1083-3188.
97. ^ Imperato-McGinley J, Canovatchel WJ (April 1992). "Complete androgen insensitivity Pathophysiology, diagnosis, and management". Trends Endocrinol. Metab. 3 (3): 75–81. doi:10.1016/1043-2760(92)90016-T. PMID 18407082. S2CID 35500255.
98. ^ a b Patterson, Mark N.; McPhaul, Michael J.; Hughes, Ieuan A. (1994). "8 Androgen insensitivity syndrome". Baillière's Clinical Endocrinology and Metabolism. 8 (2): 379–404. doi:10.1016/S0950-351X(05)80258-7. ISSN 0950-351X. PMID 8092978.
99. ^ "Georgiann Davis". The Interface Project. November 7, 2012.
100. ^ Morrison, Sarah (30 November 2013). "Special report: Intersex women speak out to protect the next generation". The Independent. Retrieved 19 November 2015.
## External links[edit]
Classification
D
* ICD-10: E34.51
* ICD-9-CM: 259.51
* OMIM: 312300 300068
* MeSH: D013734
* DiseasesDB: 29662
External resources
* eMedicine: ped/2222
* GeneReviews: Androgen Insensitivity Syndrome
* Orphanet: 99429
Information
* An Australian parent/patient booklet on CAIS (archived)
* The Secret of My Sex news article
* Women With Male DNA All Female news article at ABCnews.com
* v
* t
* e
Gonadal disorder
Ovarian
* Polycystic ovary syndrome
* Premature ovarian failure
* Estrogen insensitivity syndrome
* Hyperthecosis
Testicular
Enzymatic
* 5α-reductase deficiency
* 17β-hydroxysteroid dehydrogenase deficiency
* aromatase excess syndrome
Androgen receptor
* Androgen insensitivity syndrome
* Familial male-limited precocious puberty
* Partial androgen insensitivity syndrome
Other
* Sertoli cell-only syndrome
General
* Hypogonadism
* Delayed puberty
* Hypergonadism
* Precocious puberty
* Hypoandrogenism
* Hypoestrogenism
* Hyperandrogenism
* Hyperestrogenism
* Postorgasmic illness syndrome
* Cytochrome P450 oxidoreductase deficiency
* Cytochrome b5 deficiency
* Androgen-dependent condition
* Aromatase deficiency
* Complete androgen insensitivity syndrome
* Mild androgen insensitivity syndrome
* Hypergonadotropic hypogonadism
* Hypogonadotropic hypogonadism
* Fertile eunuch syndrome
* Estrogen-dependent condition
* Premature thelarche
* Gonadotropin insensitivity
* Hypergonadotropic hypergonadism
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis
2.2
* Barakat syndrome
* Tricho–rhino–phalangeal syndrome
2.3
* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2
2.5
* Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains
3.1
* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome
3.2
* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3
3.3
* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Complete androgen insensitivity syndrome
|
c0039585
| 27,887 |
wikipedia
|
https://en.wikipedia.org/wiki/Complete_androgen_insensitivity_syndrome
| 2021-01-18T18:41:26 |
{"gard": ["10597"], "mesh": ["D013734"], "omim": ["300068"], "icd-9": ["259.51"], "icd-10": ["E34.1"], "orphanet": ["99429"], "synonyms": ["CAIS", "Complete androgen resistance syndrome"], "wikidata": ["Q473262"]}
|
Transposition is a group of congenital defects involving an abnormal spatial arrangement of tissue or organ.
## Examples[edit]
* Transposition of the great vessels, cardiac transposition, a congenital heart defect with malformation of any of the major vessels
* Transposition of teeth[1]
* Penoscrotal transposition
## References[edit]
1. ^ Matsumoto, Mirian Aiko Nakane; Stuani, Maria Bernadete Sasso (2018). "Tooth transposition: a multidisciplinary approach". Dental Press Journal of Orthodontics. 23 (1): 97–107. doi:10.1590/2177-6709.23.1.097-107.bbo. PMC 5962253.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Transposition (birth defect)
|
None
| 27,888 |
wikipedia
|
https://en.wikipedia.org/wiki/Transposition_(birth_defect)
| 2021-01-18T18:35:17 |
{"wikidata": ["Q64869942"]}
|
Schindler disease
Other namesNAGA deficiency
Schindler disease is inherited via an autosomal recessive manner
SpecialtyEndocrinology
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22,[1][2] which leads to excessive lysosomal accumulation of glycoproteins.[3] A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease.
## Contents
* 1 Types
* 2 Cause
* 3 Diagnosis
* 4 Management
* 5 History
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Types[edit]
There are three main types of the disease each with its own distinctive symptoms.[4]
Type I infantile form, infants will develop normally until about a year old. At this time, the affected infant will begin to lose previously acquired skills involving the coordination of physical and mental behaviors. Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, vision loss, and seizures may become present. With time, the symptoms worsen and children affected with this disorder will experience a decreased ability to move certain muscles due to muscle rigidity. The ability to respond to external stimuli will also decrease. Other symptoms include neuroaxonal dystrophy from birth, discoloration of skin, Telangiectasia or widening of blood vessels.
Type II adult form, symptoms are milder and may not appear until the individual is in his or her 30s. Angiokeratomas, an increased coarsening of facial features, and mild intellectual impairment are likely symptoms.
Type III is considered an intermediate disorder. Symptoms vary and can include to be more severe with seizures and mental retardation, or less severe with delayed speech, a mild autistic like presentation, and/or behavioral problems.
## Cause[edit]
This section is empty. You can help by adding to it. (December 2016)
## Diagnosis[edit]
Amniocentesis or chorionic villus sampling can be used to screen for the disease before birth. After birth, urine tests, along with blood tests and skin biopsies can be used to diagnose Schindler disease. Genetic testing is also always an option, since different forms of Schindler disease have been mapped to the same gene on chromosome 22;[2] though different changes (mutations) of this gene are responsible for the infantile- and adult-onset forms of the disease.[5] The Genetic testing Registry can be used to acquire information about the genetics tests for this condition.[6]
## Management[edit]
Infants with Schindler disease tend to die within 4 years of birth, therefore, treatment for this form of the disease is mostly palliative. However, Type II Schindler disease, with its late onset of symptoms, is not characterized by neurological degeneration. There is no known cure for Schindler disease, but bone marrow transplants have been trialed, as they have been successful in curing other glycoprotein disorders.[citation needed]
## History[edit]
Schindler disease was named after Detlev Schindler (1946- ) M.D., the first author of a 1988 paper detailing the disease. It also named after the Japanese Biochemist and Physician, Hiro Kanzaki (1949- ), who further studied it and released papers detailing the disease in 2006.[citation needed]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Wang AM, Schindler D, Desnick R (November 1990). "Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". J. Clin. Invest. 86 (5): 1752–6. doi:10.1172/JCI114901. PMC 296929. PMID 2243144.
2. ^ a b Online Mendelian Inheritance in Man (OMIM): 609241
3. ^ Cantz M, Ulrich-Bott B (1990). "Disorders of glycoprotein degradation". J. Inherit. Metab. Dis. 13 (4): 523–37. doi:10.1007/BF01799510. PMID 2122119. S2CID 21567863.
4. ^ "Schindler disease". International Advocate for Glycoprotein Storage Diseases. (International Society for Mannosidosis & Related Diseases, ISMRD). Retrieved 2008-11-13.
5. ^ "Schindler Disease". National Organization for Rare Disorders (NORD). Retrieved 2008-11-13.
6. ^ "Kanzaki disease". Genetic and rare diseases information center. Retrieved 17 April 2018.
## Further reading[edit]
* Reference, Genetics Home. "Schindler disease". Genetics Home Reference. Retrieved 27 December 2016.
## External links[edit]
Classification
D
* ICD-10: E77.1
* OMIM: 609241 609242
* DiseasesDB: 30058
External resources
* Orphanet: 3137
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism
* Dolichol kinase deficiency
* Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
* Mucolipidosis: I-cell disease (ML II)
* Pseudo-Hurler polydystrophy (ML III)
Catabolism
* Aspartylglucosaminuria
* Fucosidosis
* mannosidosis
* Alpha-mannosidosis
* Beta-mannosidosis
* Sialidosis
* Schindler disease
Other
* solute carrier family (Salla disease)
* Galactosialidosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Schindler disease
|
c1836544
| 27,889 |
wikipedia
|
https://en.wikipedia.org/wiki/Schindler_disease
| 2021-01-18T18:44:48 |
{"gard": ["9161"], "mesh": ["C536631"], "umls": ["C0342850"], "icd-10": ["E77.1"], "orphanet": ["3137"], "wikidata": ["Q310335"]}
|
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days.
Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.
## Frequency
Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide.
## Causes
Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to help fight the infection.
ELANE gene mutations that cause cyclic neutropenia lead to an abnormal neutrophil elastase protein that seems to retain some of its function. However, neutrophils that produce abnormal neutrophil elastase protein appear to have a shorter lifespan than normal neutrophils. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply.
### Learn more about the gene associated with Cyclic neutropenia
* ELANE
## Inheritance Pattern
Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Cyclic neutropenia
|
c0221023
| 27,890 |
medlineplus
|
https://medlineplus.gov/genetics/condition/cyclic-neutropenia/
| 2021-01-27T08:24:50 |
{"gard": ["6229"], "mesh": ["C536227"], "omim": ["162800"], "synonyms": []}
|
Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. In people with Graves disease, the thyroid is overactive and makes more hormones than the body needs. The condition usually appears in mid-adulthood, although it may occur at any age.
Excess thyroid hormones can cause a variety of signs and symptoms. These include nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular heartbeat, hand tremors, frequent bowel movements or diarrhea, increased sweating and difficulty tolerating hot conditions, trouble sleeping, and weight loss in spite of an increased appetite. Affected women may have menstrual irregularities, such as an unusually light menstrual flow and infrequent periods. Some people with Graves disease develop an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing.
Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and "pulling back" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss.
A small percentage of people with Graves disease develop a skin abnormality called pretibial myxedema or Graves dermopathy. This abnormality causes the skin on the front of the lower legs and the tops of the feet to become thick, lumpy, and red. It is not usually painful.
## Frequency
Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States.
## Causes
Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown.
Graves disease is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Graves disease, the immune system creates a protein (antibody) called thyroid-stimulating immunoglobulin (TSI). TSI signals the thyroid to increase its production of hormones abnormally. The resulting overactivity of the thyroid causes many of the signs and symptoms of Graves disease. Studies suggest that immune system abnormalities also underlie Graves ophthalmopathy and pretibial myxedema.
People with Graves disease have an increased risk of developing other autoimmune disorders, including rheumatoid arthritis, pernicious anemia, systemic lupus erythematosus, Addison disease, celiac disease, type 1 diabetes, and vitiligo.
Variations in many genes have been studied as possible risk factors for Graves disease. Some of these genes are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Graves disease help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition.
Other, nongenetic factors are also believed to play a role in Graves disease. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral or bacterial infections, certain medications, and having too much or too little iodine (a substance critical for thyroid hormone production). Smoking increases the risk of eye problems and is associated with more severe eye abnormalities in people with Graves disease.
### Learn more about the genes associated with Graves disease
* HLA-DRB1
* PTPN22
* TG
* TSHR
Additional Information from NCBI Gene:
* CD40
* CTLA4
* IL2RA
* SCGB3A2
## Inheritance Pattern
The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing 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
|
Graves disease
|
c1848795
| 27,891 |
medlineplus
|
https://medlineplus.gov/genetics/condition/graves-disease/
| 2021-01-27T08:25:43 |
{"gard": ["6549"], "omim": ["275000", "603388", "300351"], "synonyms": []}
|
Pruritic urticarial papules and plaques of pregnancy, or polymorphic eruption of pregnancy, develops late in pregnancy. It usually appears first in abdominal striae before spreading to other areas. The eruption clears soon after delivery. Weiss and Hull (1992) reported 2 affected sisters in each of 2 families. In one family the sisters were identical twins married to identical twins. This was the first report of familial occurrence. Each of the 4 women was a primigravida. Weiss and Hull (1992) favored the possibility of a shared maternal reaction to a common paternal influence, possibly a paternal antigen expressed late in pregnancy or released into the maternal circulation with placental degeneration near term.
Inheritance \- Autosomal dominant Misc \- Onset late in pregnancy \- Appears first in abdominal striae Skin \- Pruritic urticarial papules and plaques ▲ 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
|
PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY
|
c0269680
| 27,892 |
omim
|
https://www.omim.org/entry/178995
| 2019-09-22T16:35:21 |
{"mesh": ["C535817"], "omim": ["178995"], "icd-10": ["O26.86"], "orphanet": ["64745"], "synonyms": ["Alternative titles", "POLYMORPHIC ERUPTION OF PREGNANCY"]}
|
A number sign (#) is used with this entry because of evidence that the variant form of xeroderma pigmentosum (XPV) is caused by mutations in the DNA polymerase eta gene (POLH; 603968).
Description
Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700).
Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999).
So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980).
Clinical Features
Fujiwara et al. (1981) reported studies of cultured cells from an 8-year-old boy, the son of first-cousin parents, who, they suggested, had a 'new' form of photodermatosis with a defect in the recovery of post-UV DNA synthesis. He had sun sensitivity, but no growth retardation, microcephaly, congenital malformations, or other abnormalities. Cells derived from the patient showed normal nucleotide excision repair after UV irradiation, but defective recovery of DNA synthesis. The biochemical findings distinguished this XP variant from the 7 known XP complementation groups, which show defects in nucleotide excision repair.
Diagnosis
Itoh et al. (1996) reported a method for the diagnosis of XPV that utilized the measurement of 3 cellular markers of DNA repair by autoradiography: unscheduled DNA synthesis (UDS), recovery of RNA synthesis (RRS), and recovery of replicative DNA synthesis (RDS) after UV irradiation. Fibroblasts from XPV patients exhibited normal UDS and RRS but diminished RDS, which was exacerbated by exposure to caffeine. Itoh et al. (2000) used this method to characterize cells of 2 XPV patients and their heterozygous parents. Cells from heterozygous parents showed normal levels of UDS, RRS, and RDS, but RDS was reduced in the presence of 1 mM caffeine (53 +/- 8% relative to the normal control). Furthermore, the cells showed normal UV survival without caffeine, but slightly reduced UV survival with 1 mM caffeine present. These results suggest that xeroderma pigmentosum variant heterozygotes can be identified by their sensitivity to ultraviolet irradiation in the presence of nontoxic levels of caffeine.
Pathogenesis
Despite having the clinical characteristics of XP, including increased frequency of skin cancer, cells from patients with variant XP are only slightly more UV-sensitive than normal cells, but are significantly more sensitive to its mutagenic effect. Wang et al. (1991) transfected an XP variant cell line with a UV-irradiated shuttle vector carrying a gene as a target for mutation, allowed replication of the plasmid, and determined the frequency and spectrum of mutations induced. Mutants in XPV cells increased linearly with dose with a slope 5 times steeper than that seen with normal cells. Most of the mutants contained base substitutions and substitutions involving a dipyrimidine; 28% of the mutations involved AT basepairs as compared to 11% in normal cells. The findings suggested that XPV cells were less likely to incorporate dAMP opposite thymidine bases involved in UV photoproducts (TT dimers) during DNA replication, which would contribute to hypermutability with UV radiation.
DNA polymerase eta (POLH; 603968) performs translesion synthesis past UV photoproducts and is deficient in cancer-prone XPV syndrome. The slight sensitivity of XPV cells to UV is dramatically enhanced by low concentrations of caffeine. Using DNA combing, Despras et al. (2010) showed that translesion synthesis defect led to a strong reduction in the number of active replication forks and a high proportion of stalled forks in human cells. Extensive regions of single-strand DNA were formed during replication in irradiated XPV cells, leading to an overactivation of ATR/CHK1 (601215/603078) pathway after low UVC doses. Addition of a low concentration of caffeine post-irradiation significantly decreased CHK1 activation and abrogated DNA synthesis in XPV cells. While inhibition of CHK1 activity by 7-hydroxystaurosporine (UCN-01) prevented UVC-induced S-phase delay in wildtype cells, it aggravated replication defect in XPV cells by increasing fork stalling. Consequently, UCN-01 sensitized XPV cells to UVC as caffeine did. The authors concluded that POLH acts at stalled forks to resume their progression, preventing the requirement for efficient replication checkpoint after low UVC doses. In the absence of POLH, CHK1 kinase becomes essential for replication resumption by alternative pathways, via fork stabilization.
Molecular Genetics
Masutani et al. (1999) identified the POLH gene and determined that it is the human homolog of yeast Rad30. The authors identified mutations in the POLH gene (603968.0001-603968.0005) in cell lines derived from patients with XPV.
Johnson et al. (1999) independently cloned the human homolog of S. cerevisiae Rad30 and identified protein truncation mutations (603968.0006-603968.0011) in patients with XPV.
Eyes \- Photophobia \- Conjunctivitis \- Keratitis \- Ectropion \- Entropion Inheritance \- Autosomal recessive Misc \- No growth retardation, microcephaly, congenital malformations or other abnormalities Lab \- Normal DNA repair after ultraviolet radiation \- Defect in recovery of post-UV DNA synthesis \- damage Skin \- Skin photosensitivity \- Early onset skin cancer (basal cell, squamous cell and malignant melanoma) \- Early freckle-like lesions in exposed areas \- Poikiloderma \- Increased/decreased skin pigment \- Skin atrophy \- Telangiectasia \- Actinic keratoses \- Angiomas \- Keratoacanthomas ▲ 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
|
XERODERMA PIGMENTOSUM, VARIANT TYPE
|
c0432328
| 27,893 |
omim
|
https://www.omim.org/entry/278750
| 2019-09-22T16:21:05 |
{"doid": ["0110847"], "omim": ["278750"], "orphanet": ["90342"], "synonyms": ["Alternative titles", "XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES", "PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS"], "genereviews": ["NBK1397"]}
|
Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
## Epidemiology
Prevalence is estimated at approximately 1/200,000- 1/1,000,000 individuals.
## Clinical description
Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma. Some newborns are encased in a mild collodion membrane (taut, shiny, translucent membrane appearing as an extra skin layer) and develop scales and erythroderma once the membrane has been shed. The clinical picture varies widely among patients with variable degrees in the severity of erythema and in the size of scales observed. The clinical picture can also change over time and in response to treatment. Skin is usually itchy or painful, and sensitivity may be reduced by the scales. Other additional clinical features can be observed in variable degrees of severity: persistent ectropion and associated eye complications (keratitis, corneal scarring), palmo-plantar keratoderma, alopecia, failure to thrive, short stature, intense pruritus, intolerance to heat, nail dystrophy, and hearing impairement (due to accumulation of scales in external ear).
## Etiology
CIE is a genetically heterogeneous disease. It is due to mutations in one of the following genes: TGM1, ABCA12, ALOX12B, ALOXE3, CYP4F22 and NIPAL4, and on locus 12p11.2-q13. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation of the epidermal cornified cell envelope. ABCA12 encodes an ATP-binding cassette (ABC) transporter, involved in lipid transport, and ALOX12B, ALOXE3, and CYP4F22 code respectively for arachidonate 12(R)-lipoxygenase, arachidonate lipoxygenase-3 and cytochrome P450 protein, all involved in lipid metabolism. NIPAL4 likely encodes a membrane receptor. There is no clear genotype-phenotype correlation.
## Diagnostic methods
The diagnosis is based on the clinical appearance of the skin. Histological aspect of the skin is not specific. Molecular testing is possible but is not available in general practice. Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers.
## Differential diagnosis
At birth, differential diagnoses include other causes of neonatal erythroderma (e.g. congenital immunodeficiencies). Later in life, differential diagnosis includes syndromic forms of icthyosis, harlequin ichthyosis, lamellar ichthyosis, congenital reticular ichthyosiform erythroderma, and peeling skin syndrome (see these terms).
## Antenatal diagnosis
Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Ultrasonography can detect the collodion membrane.
## Genetic counseling
The disease is transmitted as an autosomal recessive trait. Genetic counseling should be offered to the affected families informing them of the 25% risk of recurrence.
## Management and treatment
Management is based on daily applications of emollients. Keratolytics can be used but are often not tolerated. Oral retinoids can be used in severe forms of the disease but are less tolerated than in the case of lamellar ichthyosis (LI) (usually lower doses than in LI, 10-25 mg/d in adults).
## Prognosis
Prognosis is variable, ranging from mild to severe (especially during the neonatal period due to the risk of sepsis). For some patients there is a significant improvement with time but the disease often remains stable over the life, with periods of exacerbation. The life expectancy is normal. The disease has a strong impact on the quality of life due to the altered physical appearance, the troublesome symptoms, and the constraints due to disease and the treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 non-bullous ichthyosiform erythroderma
|
c0079154
| 27,894 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79394
| 2021-01-23T18:38:06 |
{"gard": ["9736"], "mesh": ["D017490"], "omim": ["242100", "606545", "612281", "615022", "615023", "615024"], "umls": ["C0079154"], "icd-10": ["Q80.2"], "synonyms": ["CIE", "Erythrodermic ichthyosis", "Non-bullous congenital ichthyosiform erythroderma"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to osteoarthritis-5 (OS5) is conferred by variation in the GDF5 gene (601146) on chromosome 20q11.
For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).
Molecular Genetics
Growth/differentiation factor-5 (GDF5; 601146) has a role in joint formation and was shown to stimulate proteoglycan synthesis in articular cartilage explants. GDF5 transgenic mice have thick and enlarged cartilage components of the appendicular skeleton, and some patients with type C brachydactyly (113100), a disorder caused by mutation in the GDF5 gene, have involvement of the hip joint. These findings suggested to Miyamoto et al. (2007) that GDF5 may function in the etiology and pathogenesis of osteoarthritis, and hip osteoarthritis in particular. Miyamoto et al. (2007) found that GDF5 is associated with osteoarthritis in Asian populations. A SNP (rs143383) in the 5-prime untranslated region (UTR) of GDF5 (601146.0015) showed significant association with hip osteoarthritis in 2 independent Japanese populations. This association was replicated for knee osteoarthritis in Japanese and Han Chinese populations. This SNP, located in the GDF5 core promoter, exerts allelic differences on transcriptional activity in chondrogenic cells, with the susceptibility allele showing reduced activity. The findings implicated GDF5 as a susceptibility gene for osteoarthritis and suggested that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis.
To identify rare variants in GDF5 that could influence OA susceptibility either by acting as independent risk factors or by modulating the influence of rs143383, Dodd et al. (2013) performed deep sequencing of GDF5 and identified a C-to-A transversion located at the -41-bp position relative to the gene's transcription start site. This promoter variant was predicted to affect transcription factor binding and may was thought to highlight a regulatory site that could be exploited to manipulate GDF5 expression and alleviate the detrimental effect mediated by the T allele of rs143383 (601146.0015). Using reporter constructs, Dodd et al. (2013) demonstrated that the transversion leads to increased gene expression to such a degree that the A allele is able to compensate for the reduced expression mediated by the T allele of rs143383. Dodd et al. (2013) then used electrophoretic mobility shift assays to identify YY1 (600013) as a trans-acting factor that differentially binds to the alleles of the -41-bp variant, with more avid binding to the A allele. Knockdown of YY1 led to a significant reduction in GDF5 expression, supporting YY1 as a GDF5 activator.
Animal Model
Masuya et al. (2007) identified a missense mutation in the Gdf5 gene in a mutant line (M100451) of mice in which heterozygotes showed brachypodism and ankylosis and homozygotes showed much more severe brachypodism, ankylosis of the knee joint, and malformation of the elbow joint with early-onset osteoarthritis. Masuya et al. (2007) concluded that Gdf5 plays a critical role in joint formation and development of osteoarthritis, and that the M100451 mouse should serve as a good model for osteoarthritis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
OSTEOARTHRITIS SUSCEPTIBILITY 5
|
c0029410
| 27,895 |
omim
|
https://www.omim.org/entry/612400
| 2019-09-22T16:01:33 |
{"mesh": ["D015207"], "omim": ["612400"], "icd-10": ["M16", "M16.9"], "synonyms": ["Alternative titles", "OSTEOARTHRITIS OF HIP"]}
|
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
## Epidemiology
Achondroplasia estimated incidence is at about 1/25,000 live births worldwide.
## Clinical description
Characteristic clinical features (short limbs with rhizomelia, long and narrow trunk and macrocephaly with frontal bossing and midfacial hypoplasia with depressed nasal bridge) are often times visible at birth. Hands are broad, short and trident shaped. Hypotonia is common, leading to hypermobile joints particularly in the lower extremities. A smaller foreamen magnum or abnormal shape can lead to serious sequelae in infancy like spinal cord compression or vertebral artery compression leading to central apnea. Thoracolumbar kyphosis is very common in infancy, with 90% resolving over time. Midface hypoplasia in combination with adenoid and tonsil hypertrophy can lead to obstructive sleep apnea. Chronic otitis media can lead to conductive hearing loss. Achievement of gross motor skills is slower than typical due to short limbs, short neck, and large head, in addition to hypotonia. Dental crowding is common. Genu varum often occurs in childhood. Lower lumbar spinal stenosis with accompanying neurological deficits, has an increased frequency in adulthood, as does cardiovascular disease. Obesity is a common issue. Adults reach a height of 131±5.6 cm (men) and 124±5.9 cm (women). Affected women must deliver by caesarian section due to small pelvis size.
## Etiology
Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, encoding a transmembrane receptor that is important in regulating linear bone growth, among other functions. Almost all mutations affect a specific glycine that is substituted to an arginine (G380R), leading to a gain of function mutation.
## Diagnostic methods
There are no clinical diagnostic criteria for achondroplasia. Diagnosis is based on radiological and clinical findings. A skeletal survey will demonstrate generalized metaphyseal irregularities. Molecular genetic testing can confirm a diagnosis by the presence of a FGFR3 mutation in almost all individuals.
## Differential diagnosis
Differential diagnoses include hypochondroplasia, thanatophoric dwarfism (types I and II), and SADDAN.
## Antenatal diagnosis
Prenatal diagnosis can occur incidentally during routine prenatal ultrasound examination in the 3rd trimester when shortened long bones are noted. In these cases or when a parent is known to have achondroplasia, fetal DNA can be tested for the FGFR3 mutation to confirm diagnosis. Pre-implantation genetic diagnosis is possible in specialized laboratories.
## Genetic counseling
Inheritance is autosomal dominant so genetic counseling is warranted. In 80% of cases, it is due to a de novo mutation in children with parents of average stature. If one parent has achondroplasia there is a 50% risk at each pregnancy of passing it on to offspring. If both parents have achondroplasia, there is another 25% risk that the offspring will have homozygous achondroplasia which is incompatible with life.
## Management and treatment
Management is multidisciplinary and anticipatory care is essential. Neonates should have imaging of the brain and cervical spine to access the foreamen magnum and check for hydrocephalus as well as polysomnography to check for central sleep apnea. Abnormalities in either study should warrant a prompt referral to neurosurgical colleagues for evaluation and possible surgical treatment. Regardless of imaging, activities which lead to a risk of injury to the craniocervical junction should be avoided. Treatment of ear infections and serous otitis media, along with assessment of any hearing problems is needed. Speech therapy can be offered if concerns arise. Treatment of obstructed sleep apnea may include adenotonsillectomy, weight loss, and/or continuous positive airway pressure. Weight gain should be monitored in childhood to avoid later complications. Social and psychological support should be offered. Progressive and symptomatic leg bowing can be treated surgically. Adult patients may require a lumbar laminectomy to treat spinal stenosis. Some may choose controversial limb lengthening procedures.
## Prognosis
There is only a slight decrease in life expectancy compared to the general population, potentially due to cardiovascular 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
|
Achondroplasia
|
c0001080
| 27,896 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=15
| 2021-01-23T18:53:09 |
{"gard": ["8173"], "mesh": ["D000130"], "omim": ["100800"], "umls": ["C0001080"], "icd-10": ["Q77.4"]}
|
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Dissociated sensory loss" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this template message)
Dissociated sensory loss
SpecialtyNeurology
Dissociated sensory loss is a pattern of neurological damage caused by a lesion to a single tract in the spinal cord which involves preservation of fine touch and proprioception with selective loss of pain and temperature
Understanding the mechanisms behind these selective lesions requires a brief discussion of the anatomy involved.
Loss of pain and temperature are due to damage to the lateral spinothalamic tracts, which cross the central part of the cord close to the level where they enter it and travel up the spinal column on the opposite side to the one they innervate (i.e. they ascend contralaterally). Note that a lesion of the lateral spinothalamic tract at a given level will not result in sensory loss for the dermatome of the same level; this is due to the fibers of the tract of Lissauer which transmit the neuron one or two levels above the affected segment (thus bypassing the segmental lesion on the contralateral side).
Loss of fine touch and proprioception are due to damage to the dorsal columns, which do not cross the cord until the brainstem, and so travel up the column on the same side to the one they innervate (i.e. they ascend ipsilaterally).
This means that a lesion of the dorsal columns will cause loss of touch and proprioception below the lesion and on the same side as it, while a lesion of the spinothalamic tracts will cause loss of pain and temperature below the lesion and on the opposite side to it.[1]
Dissociated sensory loss always suggests a focal lesion within the spinal cord or brainstem.[citation needed]
The location of cord lesions affects presentation—for instance, a central lesion (such as that of syringomyelia) will knock out second order neurons of the spinothalamic tract as they cross the centre of the cord, and will cause loss of pain and temperature without loss of fine touch or proprioception.
Other causes of dissociated sensory loss include:
* Diabetes mellitus[2]
* Syringomyelia
* Brown-Séquard syndrome
* Lateral medullary syndrome aka Wallenberg's syndrome
* Anterior spinal artery thrombosis
* Tangier disease
* Subacute combined degeneration
* Multiple sclerosis[3]
* Tabes dorsalis
* Friedreich's ataxia (or other spinocerebellar degeneration)
* Traumatic and iatrogenic causes including acupuncture[4][5]
## References[edit]
1. ^ Davda, Nikunj; Osman, Chinar (7 May 2018). "Anterior spinal cord infarct: a rare yet disabling stroke". BMJ Case Reports: bcr-2017-221655. doi:10.1136/bcr-2017-221655. PMC 5950573.
2. ^ Winkler, A. S.; Ejskjaer, N.; Edmonds, M.; Watkins, P. J. (June 2000). "Dissociated sensory loss in diabetic autonomic neuropathy". Diabetic Medicine. 17 (6): 457–462. doi:10.1046/j.1464-5491.2000.00298.x.
3. ^ Peres Serra, J; Martínez Yélamos, S; Ballabriga Planas, J; Basart Tarrats, E; Arbizu Urdiain, T (1994). "[Dissociated sensory loss syndrome in multiple sclerosis] (translated)". Neurologia (Barcelona, Spain). 9 (6): 233–7. PMID 8086185.
4. ^ Onda, K; Honda, H; Arai, H; Uchiyama, S (October 2008). "[Dissociated sensory loss caused by acupuncture injury to the cervical spinal cord] (translation)". Brain and nerve = Shinkei kenkyu no shinpo. 60 (10): 1187–90. PMID 18975607.
5. ^ Sasaki, H; Abe, H; Iwasaki, Y; Tsuru, M; Itoh, T (September 1984). "[Direct spinal cord and root injury caused by acupuncture--report of 2 cases] (translation)". No shinkei geka. Neurological surgery. 12 (10): 1219–23. PMID 6504260.
* v
* t
* e
Medicine
Specialties
and
subspecialties
Surgery
* Cardiac surgery
* Cardiothoracic surgery
* Colorectal surgery
* Eye surgery
* General surgery
* Neurosurgery
* Oral and maxillofacial surgery
* Orthopedic surgery
* Hand surgery
* Otolaryngology
* ENT
* Pediatric surgery
* Plastic surgery
* Reproductive surgery
* Surgical oncology
* Transplant surgery
* Trauma surgery
* Urology
* Andrology
* Vascular surgery
Internal medicine
* Allergy / Immunology
* Angiology
* Cardiology
* Endocrinology
* Gastroenterology
* Hepatology
* Geriatrics
* Hematology
* Hospital medicine
* Infectious disease
* Nephrology
* Oncology
* Pulmonology
* Rheumatology
Obstetrics and gynaecology
* Gynaecology
* Gynecologic oncology
* Maternal–fetal medicine
* Obstetrics
* Reproductive endocrinology and infertility
* Urogynecology
Diagnostic
* Radiology
* Interventional radiology
* Nuclear medicine
* Pathology
* Anatomical
* Clinical pathology
* Clinical chemistry
* Cytopathology
* Medical microbiology
* Transfusion medicine
Other
* Addiction medicine
* Adolescent medicine
* Anesthesiology
* Dermatology
* Disaster medicine
* Diving medicine
* Emergency medicine
* Mass gathering medicine
* Family medicine
* General practice
* Hospital medicine
* Intensive care medicine
* Medical genetics
* Narcology
* Neurology
* Clinical neurophysiology
* Occupational medicine
* Ophthalmology
* Oral medicine
* Pain management
* Palliative care
* Pediatrics
* Neonatology
* Physical medicine and rehabilitation
* PM&R
* Preventive medicine
* Psychiatry
* Addiction psychiatry
* Radiation oncology
* Reproductive medicine
* Sexual medicine
* Sleep medicine
* Sports medicine
* Transplantation medicine
* Tropical medicine
* Travel medicine
* Venereology
Medical education
* Medical school
* Bachelor of Medicine, Bachelor of Surgery
* Bachelor of Medical Sciences
* Master of Medicine
* Master of Surgery
* Doctor of Medicine
* Doctor of Osteopathic Medicine
* MD–PhD
Related topics
* Alternative medicine
* Allied health
* Dentistry
* Podiatry
* Pharmacy
* Physiotherapy
* Molecular oncology
* Nanomedicine
* Personalized medicine
* Public health
* Rural health
* Therapy
* Traditional medicine
* Veterinary medicine
* Physician
* Chief physician
* History of medicine
* Book
* Category
* Commons
* Wikiproject
* Portal
* Outline
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Dissociated sensory loss
|
c0278136
| 27,897 |
wikipedia
|
https://en.wikipedia.org/wiki/Dissociated_sensory_loss
| 2021-01-18T19:09:38 |
{"wikidata": ["Q5282788"]}
|
Psychiatric finding. Patients with delusional parasitosis (DP) often arrive at the doctor's office with this medical sign
This article is part of a series on
Alternative medicine
General information
* Alternative medicine
* Alternative veterinary medicine
* Quackery (Health fraud)
* History of alternative medicine
* Rise of modern medicine
* Pseudoscience
* Antiscience
* Skepticism
* Skeptical movement
* National Center for Complementary and Integrative Health
* Terminology of alternative medicine
* Therapeutic nihilism
Fringe medicine and science
* Acupressure
* Acupuncture
* Alkaline diet
* Anthroposophic medicine
* Apitherapy
* Applied kinesiology
* Aromatherapy
* Auriculotherapy
* Bates method
* Black salve
* Bodywork
* Bonesetter
* Bowen technique
* Breathwork
* Fake COVID-19 treatments
* Cancer treatments
* Charcoal cleanse
* Chiropractic
* Chiropractic treatment techniques
* Vertebral subluxation
* Christian Science
* Chromotherapy
* Colon cleansing
* Coffee enema
* Colorpuncture
* Colloidal silver
* Craniosacral therapy
* Crystal healing
* Cupping therapy
* Dental amalgam controversy
* Detoxification
* Foot detox
* Ear candling
* Energy medicine
* Esoteric energy
* Therapeutic touch
* Fabunan Antiviral Injection
* Facilitated communication
* Feldenkrais Method
* Functional medicine
* Hair analysis
* Herbal medicine
* Holistic dentistry
* Hologram bracelet
* Homeopathy
* Bach flower remedies
* Biological terrain assessment
* Hypnotherapy
* Iridology
* Ionized jewelry
* Jilly Juice
* Lightning Process
* Lymphotherapy
* Medical intuitive
* Mesmerism
* Magnet therapy
* Manual therapy
* Megavitamin therapy
* Mind–body interventions
* MMS
* Myofascial release
* NAET
* Naturopathy
* Oil pulling
* Orgone
* Orthomolecular medicine
* Orthopathy
* Osteomyology
* Osteopathy
* Ozone therapy
* Parapsychology
* Phrenology
* Psychic surgery
* Psychodermatology
* Radionics
* Rapid prompting method
* RBOP
* Reiki
* Reflexology
* Rolfing
* Scientific racism
* ThetaHealing
* Thought Field Therapy
* Urophagia
* Vaginal steaming
* Vision therapy
* Vitalism
* Young blood transfusion
* Zero balancing
Conspiracy theories (list)
* Big Pharma conspiracy theory
* HIV/AIDS denialism
* OPV AIDS hypothesis
* Anti-vaccination
* Vaccines and autism
* MMR vaccine and autism
* Water fluoridation controversy
* GMO conspiracy theories
* Misinformation related to the COVID-19 pandemic
Classifications
* Alternative medical systems
* Mind–body intervention
* Biologically-based therapy
* Manipulative methods
* Energy therapy
Traditional medicine
* African
* Muti
* Southern Africa
* Ayurveda
* Ayurvedic acupressure
* Dosha
* Maharishi Vedic Approach to Health
* Balneotherapy
* Brazilian
* Bush medicine
* Cambodian
* Chinese
* Blood stasis
* Chinese herbology
* Dit Da
* Gua sha
* Gill plate trade
* Meridian
* Moxibustion
* Pressure point
* Qi
* San Jiao
* Tui na
* Zang-fu
* Chumash
* Curandero
* Faith healing
* Iranian
* Jamu
* Kambo
* Japanese
* Korean
* Mien Shiang
* Mongolian
* Prophetic medicine
* Shamanism
* Shiatsu
* Siddha
* Sri Lankan
* Thai massage
* Tibetan
* Unani
* Vietnamese
Diagnoses
* Adrenal fatigue
* Aerotoxic syndrome
* Candida hypersensitivity
* Chronic Lyme disease
* Electromagnetic hypersensitivity
* Heavy legs
* Leaky gut syndrome
* Multiple chemical sensitivity
* Wilson's temperature syndrome
* v
* t
* e
The matchbox sign, also referred to as the Ziploc bag sign or the specimen sign, is a psychiatric finding.[1] Patients with delusional parasitosis (DP) often arrive at the doctor's office with this medical sign.[2] People with DP can damage their skin by attempting to remove imaginary parasites via chemical substances or obsessive cleansing. The individual typically collects items extracted from the skin, and stores them in a matchbox or similar small container, to present to the physician as proof of a parasitic infestation.[1] These items may include scabs and skin particles, dust and dirt, and plant or animal fibers, and may be accompanied by photographs.[3] Laboratory analysis fails to find proof of parasitic infestation.[1] The matchbox sign is present in five to eight out of every ten people with DP.[4]
## History[edit]
The matchbox was described by Lyell (1983) as the most common container used to present specimens to the physician.[5]
Shelomi (2013) published a study of what he called scientific misconduct when a 2004 article in the Journal of the New York Entomological Society included what he says is photo manipulation of a matchbox specimen to support the claim that individuals with DP are infested with collembola.[6]
## See also[edit]
* Morgellons
## References[edit]
1. ^ a b c Reich A, Kwiatkowska D, Pacan P (December 2019). "Delusions of parasitosis: an update". Dermatol Ther (Heidelb) (Review). 9 (4): 631–8. doi:10.1007/s13555-019-00324-3. PMC 6828902. PMID 31520344.
2. ^ Koo J, Lebwohl A (December 2001). "Psycho dermatology: the mind and skin connection". Am Fam Physician. 64 (11): 1873–8. PMID 11764865.
3. ^ Campbell EH, Elston DM, Hawthorne JD, Beckert DR (May 2019). "Diagnosis and management of delusional parasitosis". J. Am. Acad. Dermatol. (Review). 80 (5): 1428–34. doi:10.1016/j.jaad.2018.12.012. PMID 30543832.
4. ^ Moriarty N, Alam M, Kalus A, O'Connor K (December 2019). "Current understanding and approach to delusional infestation". Am. J. Med. (Review). 132 (12): 1401–09. doi:10.1016/j.amjmed.2019.06.017. PMID 31295443.
5. ^ Lyell A (June 1983). "Delusions of parasitosis". J. Am. Acad. Dermatol. 8 (6): 895–7. doi:10.1016/s0190-9622(83)80024-3. PMID 6863652.
6. ^ Shelomi M (June 2013). "Evidence of photo manipulation in a delusional parasitosis paper". J. Parasitol. 99 (3): 583–5. doi:10.1645/12-12.1. PMID 23198757. S2CID 6473251.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Matchbox sign
|
None
| 27,898 |
wikipedia
|
https://en.wikipedia.org/wiki/Matchbox_sign
| 2021-01-18T19:05:31 |
{"wikidata": ["Q6786248"]}
|
A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
## Epidemiology
Prevalence is unknown.
## Clinical description
Onset most commonly occurs after 50 years of age. Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. The edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Laryngeal edema can be life-threatening with a risk of death of 25% in the absence of appropriate treatment. Dental procedures are a triggering factor for laryngeal edema. Edemas of the face are a risk factor for laryngeal involvement.
## Etiology
The edemas are triggered by increased permeability of the blood vessels in response to elevated levels of bradykinin as a result of the C1-INH deficiency. Type 1 AAE (see this term) is frequently associated with lymphoproliferative syndromes and accelerated consumption of C1-INH, and with autoimmune diseases that may manifest several years after the initial episodes of angioedema. Type 2 AAE (see this term) is associated with the presence of autoantibodies to the C1-INH that neutralize C1-INH activity and are often associated with dysglobulinemia of unknown origin. AAE can also be induced by renin-angiotensin-aldosterone system blockers (RAAS-blocker-induced angioedema; see this term).
## Diagnostic methods
Diagnosis relies on clinical findings, measurement of C4 concentrations and on quantitative and functional analysis of C1-INH. C1q levels are low in patients with AAE but are normal in patients with hereditary angioedema (see this term).
## Differential diagnosis
The differential diagnosis should include intestinal occlusion syndrome, hereditary angioedema and histamine-induced angioedema (of allergenic or nonallergenic origin) generally associated with urticaria.
## Management and treatment
Treatment of the associated disease should generally allow episodes to be controlled and lead to normalization of C1-INH levels. In the absence of an associated disease, the treatments used to manage the hereditary forms of angioedema may be of benefit.
## Prognosis
The prognosis depends on the risk of developing hematological manifestations. Rituximab can be an alternative treatment in cases of AAE associated with C1-INH antibodies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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
|
Acquired angioedema
|
c2931758
| 27,899 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91385
| 2021-01-23T19:00:44 |
{"gard": ["8605"], "mesh": ["C538173"], "omim": ["300909"], "umls": ["C2931758"], "icd-10": ["T78.3"], "synonyms": ["AAE", "Acquired C1 inhibitor deficiency", "Acquired angioneurotic edema", "Acquired bradykinine-induced angioedema", "Acquired non histamine-induced angioedema"]}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.