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
|
|---|---|---|---|---|---|---|---|
A number sign (#) is used with this entry because of evidence that familial adult myoclonic epilepsy-7 (FAME7) is caused by a heterozygous 5-bp repeat expansion (TTTCA(n)) in the RAPGEF2 gene (609530) on chromosome 4q32. One such patient has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Clinical Features
Ishiura et al. (2018) reported a small Japanese family (F8241) with familial adult myoclonic epilepsy. Clinical details were limited. The male proband showed myoclonic tremor from the age of 18 years. He had a seizure at age 27, when anitconvulsants and beta-blocker were started. No brain MRI abnormalities or giant somatosensory evoked potentials were observed. The proband's mother was unaffected, his father reportedly had tremulous movements, and his deceased paternal uncle was affected. DNA was not available from the father or paternal uncle.
Inheritance
The transmission pattern of FAME7 in the family reported by Ishiura et al. (2018) was consistent with autosomal dominant inheritance.
Molecular Genetics
In a Japanese patient (F8241) with FAME7, Ishiura et al. (2018) identified a heterozygous 5-bp TTTCA(n) repeat in intron 14 of the RAPGEF2 gene (609530.0001). This expansion was located between two 5-bp TTTTA(n) repeats. TTTCA(n) repeat expansions were not found in the reference sequence or in 1,000 control individuals. TTTTA(n) expanded repeats were found in 0.5% of controls, suggesting that the TTTCA(n) expansion is responsible for the phenotype. The mutation was found by searching for repeat motifs using data from whole-genome sequence analysis and Southern blot analysis after a similar repeat expansion was identified in the SAMD12 gene (618073) in patients with FAME1. Functional studies of the RAPGEF2 variant and studies of patient cells were not performed, but based on studies with SAMD12, Ishiura et al. (2018) postulated that the expression of RNA molecules containing expansions of UUUCA and UUUUA repeats per se is involved in the pathogenesis of the disorder, rather than altered physiologic function of each individual gene.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
|
None
| 26,000 |
omim
|
https://www.omim.org/entry/618075
| 2019-09-22T15:43:44 |
{"omim": ["618075"], "synonyms": ["Alternative titles", "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7", "CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 7"]}
|
Whyte et al. (1985) studied 2 daughters of nonconsanguineous parents with a unique sclerosing skeletal disorder. At birth 'craniofacial dysostosis' and microthorax were noted. Radiographic studies disclosed generalized osteosclerosis and diffuse cerebral calcification consistent with that of carbonic anhydrase II deficiency (259730). Bone sections, however, showed not osteopetrosis but marked osteoidosis. Other studies confirmed a mineralization defect.
HEENT \- Congenital craniofacial dysostosis Radiology \- Generalized osteosclerosis \- Diffuse cerebral calcification Lab \- Marked osteoidosis on bone sections \- Mineralization defect Thorax \- Congenital microthorax 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
|
OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION
|
c1850141
| 26,001 |
omim
|
https://www.omim.org/entry/259660
| 2019-09-22T16:23:51 |
{"mesh": ["C564916"], "omim": ["259660"]}
|
Collie eye anomaly (CEA) is a congenital, inherited, bilateral eye disease of dogs, which affects the retina, choroid, and sclera. It can be a mild disease or cause blindness. CEA is caused by a simple autosomal recessive gene defect. There is no treatment.
## Contents
* 1 Affected breeds
* 2 Pathogenesis
* 3 Signs
* 4 Breeding and testing
* 5 References
* 6 External links
## Affected breeds[edit]
It is known to occur in Scotch Collies (smooth and rough collies), Shetland Sheepdogs, Australian Shepherds, Border Collies, Lancashire Heelers,[1] and Nova Scotia Duck Tolling Retrievers.[2] Frequency is high in Collies and Shetland Sheepdogs, and low in Border Collies[3] and NSDTRs.[2] In the United States, incidence in the genotype of collies has been estimated to be as high as 95 percent, with a phenotypic incidence of 80 to 85 percent.[4]
## Pathogenesis[edit]
CEA is caused by improper development of the eye. Failure of the cells of the posterior portion of the optic vesicles to express growth hormone affects the differentiation of other cells of the eye. The choroid, especially lateral to the optic disc, is hypoplastic (underdeveloped). A coloboma, or hole, may form in or near the optic disc due to a failed closure of embryonic tissue. The degree of these abnormalities varies between individual dogs, and even between the same dog's eyes.[5] CEA is inherited as an autosomal recessive trait that has a penetrance reaching 100 percent, and has been localized to canine chromosome 37.[6]
## Signs[edit]
The most common sign of CEA is the presence of an area of undeveloped choroid (appearing as a pale spot) lateral to the optic disc. The choroid is a collection of blood vessels supplying the retina. CEA can also cause retinal or scleral coloboma, coloboma of the optic disc, retinal detachment, or intraocular hemorrhage. It can be diagnosed by fundoscopy by the age of six or seven weeks.[3] Severe cases may be blind.
## Breeding and testing[edit]
Controversies exist around eliminating this disorder from breeding Collies. Some veterinarians advocate only breeding dogs with no evidence of disease, but this would eliminate a large portion of potential breeding stock. Because of this, others recommend only breeding mildly affected dogs, but this would never completely eradicate the condition. Also, mild cases of choroidal hypoplasia may become pigmented and therefore undiagnosable by the age of three to seven months. If puppies are not checked for CEA before this happens, they may be mistaken for normal and bred as such. Checking for CEA by seven weeks of age can eliminate this possibility. Diagnosis is also difficult in dogs with coats of dilute color because lack of pigment in the choroid of these animals can be confused with choroidal hypoplasia. Also, because of the lack of choroidal pigment, mild choroidal hypoplasia is difficult to see, and therefore cases of CEA may be missed.[3]
Until recently, the only way to know if a dog was a carrier was for it to produce an affected puppy. However, a genetic test for CEA became available at the beginning of 2005, developed by the Baker Institute for Animal Health, Cornell University, and administered through OptiGen.[7] The test can determine whether a dog is affected, a carrier, or clear, and is therefore a useful tool in determining a particular dog's suitability for breeding.
## References[edit]
1. ^ "Inherited Retinopathies". The Merck Veterinary Manual. 2006. Retrieved 2007-03-19.
2. ^ a b "Nova Scotia Duck Tolling Retriever Club (USA)". Collie Eye Anomaly Discovered In The Nova Scotia Duck Tolling Retriever. Archived from the original on September 27, 2007. Retrieved 2006-05-26.
3. ^ a b c Gelatt, Kirk N., ed. (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins. ISBN 0-683-30076-8.
4. ^ Gilger, Brian C. (2006). "Diagnosis and treatment of ocular fundus disorders of geriatric dogs" (PDF). Proceedings of the North American Veterinary Conference. Archived from the original (PDF) on 2007-09-29. Retrieved 2007-03-19.
5. ^ Bedford, Peter (2006). "Hereditary Retinal Diseases" (PDF). Proceedings of the 31st World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-19.
6. ^ Lowe J, Kukekova A, Kirkness E, Langlois M, Aguirre G, Acland G, Ostrander E (2003). "Linkage mapping of the primary disease locus for collie eye anomaly". Genomics. 82 (1): 86–95. doi:10.1016/S0888-7543(03)00078-8. PMID 12809679.
7. ^ "American Border Collie Association". Health and Genetics of Border Collies - A Breeder and Buyer's Guide. Archived from the original on 2006-07-15. Retrieved 2006-07-28.
## External links[edit]
* Informational website for CEA
* Optigen: Collie Eye Anomaly / Choroidal Hypoplasia (CEA) Test
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Collie eye anomaly
|
c0521564
| 26,002 |
wikipedia
|
https://en.wikipedia.org/wiki/Collie_eye_anomaly
| 2021-01-18T18:55:45 |
{"wikidata": ["Q946356"]}
|
A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital pulmonary airway malformation type 0
|
None
| 26,003 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280827
| 2021-01-23T17:08:12 |
{"icd-10": ["Q33.0"], "synonyms": ["CPAM type 0", "Congenital cystic adenomatoid malformation of the lung type 0", "Congenital cystic adenomatous malformation of the lung type 0"]}
|
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur 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
|
Sialuria
|
c0342853
| 26,004 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3166
| 2021-01-23T17:07:03 |
{"gard": ["4865"], "mesh": ["D029461", "C537332"], "omim": ["269921"], "umls": ["C0342853", "C2931471"], "icd-10": ["E77.8"], "synonyms": ["Sialuria, French type"]}
|
Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia).
In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal.
Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.
## Frequency
Nonsyndromic congenital nail disorder 10 is likely a rare disorder. At least 14 affected individuals have been described in the scientific literature.
## Causes
Nonsyndromic congenital nail disorder 10 is caused by mutations in the FZD6 gene, which provides instructions for making a protein called frizzled-6. This protein is embedded in the outer membrane of many types of cells, where it is involved in transmitting chemical signals from outside the cell to the cell's nucleus. The frizzled-6 protein plays an especially critical role in the growth and development of nails, particularly the attachment of the nail to the nail bed.
FZD6 gene mutations that cause nonsyndromic congenital nail disorder 10 lead to the production of a frizzled-6 protein that cannot get to the cell membrane where it is needed or that cannot transmit signals into the cell. As a result, the growth and development of nails is poorly regulated, which leads to onycholysis and other abnormalities of the fingernails and toenails.
### Learn more about the gene associated with Nonsyndromic congenital nail disorder 10
* FZD6
## 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
|
Nonsyndromic congenital nail disorder 10
|
c3279974
| 26,005 |
medlineplus
|
https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10/
| 2021-01-27T08:25:21 |
{"omim": ["614157"], "synonyms": []}
|
In immunology, the term sensitization is used for the following concepts:[1][2][3][4][5]
* Immunization by inducing an adaptive response in the immune system.[1][2][3][4][5] In this sense, sensitization is the term more often in usage for induction of allergic responses.[4]
* To bind antibodies to cells such as erythrocytes in advance of performing an immunological test such as a complement-fixation test or a Coombs test.[1][2][5] The antibodies are bound to the cells in their Fab regions in the preparation.
* To bind antibodies or soluble antigens chemically or by adsorption to appropriate biological entities such as erythrocytes or particles made of gelatin or latex for passive aggregation tests.[5]
Those particles themselves are biologically inactive except for serving as antigens against the primary antibodies or as carriers of the antigens.[5] When antibodies are used in the preparation, they are bound to the erythrocyte or particles in their Fab regions. Thus the step follows requires the secondary antibodies against those primary antibodies, that is, the secondary antibodies must have binding specificity to the primary antibodies including to their Fc regions.
## References[edit]
1. ^ a b c Anderson DM, ed. (2003). "Sensitization." Dorland's Illustrated Medical Dictionary, 30th ed. Philadelphia: Saunders, p. 1680. ISBN 0-7216-0146-4.
2. ^ a b c Brown MJ, ed. (1992). "Sensitization." Miller-Keane Encyclopedia & Dictionary of Medicine, Nursing, and Allied Health, 5th ed. Philadelphia; London: Saunders, p. 1352. ISBN 0-7216-3456-7.
3. ^ a b Pugh MB, ed. (2000). "Sensitization." Stedman's Medical Dictionary, 27th ed. Philadelphia: Lippincott Williams and Wilkins, p. 1619. ISBN 0-683-40007-X.
4. ^ a b c Janeway C, Travers P, Walport M, Shlomchik M, eds. (2001). Immunobiology 5: The Immune System in Health and Disease. New York: Garland Pub., ISBN 0-8153-3642-X
5. ^ a b c d e Tada T, Taniguchi M, Okumura Y, Miyasaka M, eds. (1993). "Sensitization." Dictionary of Terms in Immunology, 3rd ed. Osaka: Saishin-Igakusha, Ltd., p. 510. ISBN 4-914909-10-3 C3547 (in Japanese).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Sensitization (immunology)
|
c3839736
| 26,006 |
wikipedia
|
https://en.wikipedia.org/wiki/Sensitization_(immunology)
| 2021-01-18T18:29:01 |
{"umls": ["C3839736"], "wikidata": ["Q657619"]}
|
Atelosteogenesis type I
Other namesSpondylo-humero-femoral dysplasia
Autosomal dominant pattern is the inheritance manner of this condition
SpecialtyMedical genetics
Atelosteogenesis type I is a rare autosomal dominant condition.[1] This condition is evident at birth and is associated with a very poor prognosis for the baby. It may be diagnosed antenatally.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 References
## Signs and symptoms[edit]
Clinical features include[2]
* Abnormal facies
* Prominent forehead
* Hypertelorism
* Depressed nasal bridge with a grooved tip
* Micrognathia
* Cleft palate
* Severe short limbed dwarfism
* Joint dislocations (hip, knee and elbow joints)
* Club feet
* Cardiorespiratory failure
Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.[3]
## Genetics[edit]
This condition is caused by mutations in the filamin B (FLNB) gene.[4][5][6] This gene is located on the short arm of chromosome 3 (3p14).[citation needed]
## Pathogenesis[edit]
Filamin B forms part of the actin cytoskeleton. How these mutations produce the clinical picture is not yet clear.[citation needed]
## Diagnosis[edit]
This condition is evident at birth and may be diagnosed antenatally with ultrasound or magnetic resonance imaging. The infants may be still born. Those that are live born do not survive long.[7]
Radiological findings include[8]
* Severe platyspondyly
* Distally tapered, shortened, incomplete or absent humeri and femurs
* Shortened or bowed radii, ulnas and tibias
* Hypoplastic pelvis and fibulas
* Deficient ossification of the metacarpals, middle and proximal phalanges
### Differential diagnosis[edit]
This includes[9]
* Achondroplasia
* Achondrogenesis
* Atelosteogenesis III
* Boomerang dysplasia
* Campomelic dysplasia
* Ellis-van Creveld syndrome
* Hypophosphatasia
* Melnick Needles syndrome
* Metatropic dysplasia
* Osteogenesis imperfecta
* Roberts syndrome
* Short rib polydactyly syndrome
* Thanatophoric dysplasia
## Treatment[edit]
There is currently no curative treatment for this condition.Supportive management is all that is currently available[citation needed].
## Epidemiology[edit]
This is a rare condition with a prevalence of < 1/106. The total number of cases reported to date is <20\.
## History[edit]
This condition was first described by Maroteaux et al. in 1982.[10]
## References[edit]
1. ^ Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K (1997) Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol 27(5):388-396
2. ^ Temple K, Hall C A, Chitty L, Baraitser M (1990) A case of atelosteogenesis. J Med Genet 27: 194-197
3. ^ Wessels A, Wainwright HC, Beighton P (2011) Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol 14(6):496-500
4. ^ Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D (2006) Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat 27(7):705-710
5. ^ Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM (2013) Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet A 161A(3):619-625. doi: 10.1002/ajmg.a.35792
6. ^ Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS (2014) Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med 34(2):134-138. doi: 10.3343/alm.2014.34.2.134
7. ^ Stevenson RE, Wilkes G (1983) Atelosteogenesis with survival beyond the neonatal period. Proc. Greenwood Genet Center 2: 32-38
8. ^ Ueno K, Tanaka M, Miyakoshi K, Zhao C, Shinmoto H, Nishimura G, Yoshimura Y (2002) Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn 22(12):1071-1075
9. ^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997) Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. Am J Med Genet 73(2):132-138
10. ^ Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF (1982) Atelosteogenesis. Am J Med Genet 13: 15-25
Classification
D
* OMIM: 108720
* MeSH: C535396
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Atelosteogenesis type I
|
c0265283
| 26,007 |
wikipedia
|
https://en.wikipedia.org/wiki/Atelosteogenesis_type_I
| 2021-01-18T18:45:36 |
{"gard": ["9287"], "mesh": ["C535396"], "orphanet": ["1190"], "wikidata": ["Q49970049"]}
|
A number sign (#) is used with this entry because of evidence that IVIC syndrome is caused by heterozygous mutation in the SALL4 gene (607343) on chromosome 20q13.
Duane-radial ray syndrome (DRRS; 607323) is an allelic disorder with a similar phenotype.
Nomenclature
The IVIC syndrome, an acronym for Instituto Venezolano de Investigaciones Cientificas, was first described by Arias et al. (1980).
Neri and Sammito (1989) suggested that the IVIC syndrome may represent an 'iceberg dominant' trait, i.e., that because of the wide range of severity typical of dominant traits, mild cases may be recognized. In addition, they proposed oculootoradial syndrome (OORS) as an alternative and perhaps preferable designation.
Clinical Features
Arias et al. (1980) described the IVIC syndrome in 19 living descendants of a Caucasian family that migrated to Venezuela from the Canary Islands in the early 1800s. The disorder could be traced over 6 generations with complete penetrance. There was widely variable expression of a radial ray defect that was sometimes an almost normal thumb and at other times a severely malformed upper limb. When present, the thumb had a long, slender metacarpal and short distal phalanx. The radial carpal bones were always affected. In most cases the extraocular muscles were affected, resulting in strabismus. Hearing was impaired by a mixed congenital loss. Mild thrombocytopenia and leukocytosis were noted. Imperforate anus and kidney malrotation occurred in some.
Sammito et al. (1988) described 3 affected individuals in 2 generations of an Italian family. Autosomal dominant inheritance was confirmed by the occurrence of the syndrome in father and son. A second child was more mildly affected. Czeizel et al. (1989) described a third family, with affected mother and son.
Elcioglu and Berry (1997) described Turkish monozygotic twin girls who were discordant for the IVIC syndrome. One was diagnosed them on the basis of hand abnormalities and hearing loss, whereas her sister had only strabismus. In the family there were at least 7 apparently and 2 possibly affected members over 4 generations; most of these individuals were only mildly affected. The 2 girls, whose monozygosity was proved using several DNA loci, showed marked variability in expression, indicating that modification of expression of the responsible gene must be epigenetic or environmental rather than genetic.
Molecular Genetics
In affected members of the original Venezuelan family reported by Arias et al. (1980), Paradisi and Arias (2007) identified a heterozygous mutation in the SALL4 gene (607343.0013). The authors emphasized the intrafamilial phenotypic variability of the same mutation.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss Eyes \- Strabismus \- External ophthalmoplegia ABDOMEN Gastrointestinal \- Imperforate anus \- Rectovaginal fistula GENITOURINARY Internal Genitalia (Female) \- Rectovaginal fistula SKELETAL Spine \- Scoliosis Limbs \- Radial ray hypoplasia \- Limited elbow movement \- Radioulnar synostosis Hands \- Triphalangeal thumb \- Hypoplastic thumbs \- Absent thumbs \- First metacarpal hypoplasia \- Thenar hypoplasia \- Limited wrist movement \- Limited interphalangeal movement \- Carpal bone hypoplasia \- Carpal bone fusion MUSCLE, SOFT TISSUES \- Deltoid muscle hypoplasia \- Pectoralis major muscle hypoplasia HEMATOLOGY \- Mild thrombocytopenia (before age 50) \- Leukocytosis (before age 50) MISCELLANEOUS \- Highly variable phenotype \- Allelic disorder to Duane-Radial Ray syndrome (DRRS, 607323 ) MOLECULAR BASIS \- Caused by mutation in the sal-like 4 gene (SALL4, 607343.0013 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
IVIC SYNDROME
|
c1327918
| 26,008 |
omim
|
https://www.omim.org/entry/147750
| 2019-09-22T16:39:23 |
{"mesh": ["C535544"], "omim": ["147750"], "orphanet": ["2307"], "synonyms": ["Alternative titles", "RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA", "OCULOOTORADIAL SYNDROME"]}
|
Cerebral salt-wasting syndrome
Other namesCSWS
SpecialtyEndocrinology
Cerebral salt-wasting syndrome (CSWS) is a rare endocrine condition featuring a low blood sodium concentration and dehydration in response to injury (trauma) or the presence of tumors in or surrounding the brain. In this condition, the kidney is functioning normally but excreting excessive sodium.[1] The condition was initially described in 1950.[2] Its cause and management remain controversial.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Signs and symptoms of CSWS include large amounts of urination (polyuria, defined as over three liters of urine output over 24 hours in an adult), high amounts of sodium in the urine, low blood sodium concentration,[1] excessive thirst (polydipsia), extreme salt cravings, dysfunction of the autonomic nervous system (dysautonomia), and dehydration. Patients often self-medicate by consuming high amounts of sodium and by dramatically increasing their water intake. Advanced symptoms include muscle cramps, lightheadedness, dizziness or vertigo, feelings of anxiety or panic, increased heart rate or slowed heart rate, low blood pressure and orthostatic hypotension which can result in fainting.[5] Other symptoms frequently associated with dysautonomia include headaches, pallor, malaise, facial flushing, constipation or diarrhea, nausea, acid reflux, visual disturbances, numbness, nerve pain, trouble breathing, chest pain, loss of consciousness, and seizures.[5]
## Causes[edit]
CSWS is usually caused by brain injury/trauma or cerebral lesion, tumor, or hematoma.[citation needed]
## Diagnosis[edit]
CSWS is a diagnosis of exclusion and may be difficult to distinguish from the syndrome of inappropriate antidiuretic hormone (SIADH), which develops under similar circumstances and also presents with hyponatremia.[1] The main clinical difference is that of total fluid status of the patient: CSWS leads to a relative or overt low blood volume[3] whereas SIADH is consistent with a normal or high blood volume (due to water reabsorption via the V2 receptor).[1] If blood-sodium levels increase when fluids are restricted, SIADH is more likely.[6] Additionally, urine output is classically low in SIADH and elevated in CSWS.[1]
## Treatment[edit]
While CSWS usually appears within the first week after brain injury and spontaneously resolves in 2–4 weeks, it can sometimes last for months or years. In contrast to the use of fluid restriction to treat SIADH, CSWS is treated by replacing the urinary losses of water and sodium with hydration and sodium replacement.[1] The mineralocorticoid medication fludrocortisone can also improve the low sodium level.[1][7]
## References[edit]
1. ^ a b c d e f g Yee AH, Burns JD, Wijdicks EF (April 2010). "Cerebral salt wasting: pathophysiology, diagnosis, and treatment". Neurosurg Clin N Am. 21 (2): 339–52. doi:10.1016/j.nec.2009.10.011. PMID 20380974.
2. ^ Peters JP, Welt LG, Sims EA, Orloff J, Needham J (1950). "A salt-wasting syndrome associated with cerebral disease". Trans. Assoc. Am. Physicians. 63: 57–64. PMID 14855556.
3. ^ a b Petzold A (2015). "Disorders of plasma sodium". N Engl J Med. 372 (13): 1267–1269. doi:10.1056/nejmc1501342. PMID 25806925.
4. ^ Sterns RH (2015). "Disorders of plasma sodium". N Engl J Med. 372 (13): 1267–1269. doi:10.1056/NEJMc1501342. PMID 25806924.
5. ^ a b Tierney, Lawrence M.; McPhee, Stephen J.; Papadakis, Maxine A. (2006). Current Medical Diagnosis and Treatment 2007 (Current Medical Diagnosis and Treatment). McGraw-Hill Professional. p. 1010. ISBN 978-0-07-147247-0.
6. ^ Harrigan MR (1996). "Cerebral salt wasting syndrome: a review". Neurosurgery. 38 (1): 152–60. doi:10.1097/00006123-199601000-00035. PMID 8747964.
7. ^ Betjes MG (2002). "Hyponatremia in acute brain disease: the cerebral salt wasting syndrome". Eur J Intern Med. 13 (1): 9–14. doi:10.1016/S0953-6205(01)00192-3. PMID 11836078.
## External links[edit]
Classification
D
* DiseasesDB: 32234
External resources
* eMedicine: ped/354
* v
* t
* e
Electrolyte imbalances
Sodium
* High
* Salt poisoning
* Low
* Hypotonic
* Isotonic
* Cerebral salt-wasting syndrome
Potassium
* High
* Low
Chloride
* High
* Low
Calcium
* High
* Low
* Symptoms and signs
* Chvostek sign
* Trousseau sign
* Milk-alkali syndrome
* Disorders of calcium metabolism
* Calcinosis (Calciphylaxis, Calcinosis cutis)
* Calcification (Metastatic calcification, Dystrophic calcification)
* Familial hypocalciuric hypercalcemia
Phosphate
* High
* Low
Magnesium
* High
* Low
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cerebral salt-wasting syndrome
|
c0241831
| 26,009 |
wikipedia
|
https://en.wikipedia.org/wiki/Cerebral_salt-wasting_syndrome
| 2021-01-18T18:55:21 |
{"umls": ["C0241831"], "icd-9": ["593.9"], "icd-10": ["N28.8"], "wikidata": ["Q190454"]}
|
## Summary
### Clinical characteristics.
Blephariphimosis, ptosis, and epicanthus inversus syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and premature ovarian insufficiency (POI); BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic FOXL2 pathogenic variant are expected to have normal intelligence, in contrast to affected individuals with cytogenetic rearrangements that involve FOXL2 and additional genes.
### Diagnosis/testing.
The diagnosis of BPES is primarily based on clinical findings. Occasionally individuals with BPES have cytogenetic rearrangements, such as interstitial deletions and translocations involving 3q23. FOXL2 is the only gene currently known to be associated with BPES.
### Management.
Treatment of manifestations: Timing of eyelid surgery involves balancing the benefits of early surgery to prevent deprivation amblyopia versus late surgery to allow for more reliable ptosis measurements. Surgery traditionally involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at age three to five years, typically followed a year later by ptosis correction; recently, a one-stage surgical procedure has been described. Premature ovarian failure is treated with hormone replacement therapy; fertility is addressed with reproductive technologies such as embryo donation and egg donation.
Surveillance: Ophthalmic follow up depends on age, procedures performed in the past, and results of visual acuity testing. Endocrinologic and gynecologic follow up are advised for affected females.
### Genetic counseling.
BPES is usually inherited in an autosomal dominant manner; autosomal recessive inheritance has been reported in one consanguineous family. For autosomal dominant inheritance: Each child of an individual with BPES has a 50% chance of inheriting the FOXL2 pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in the family has been identified; however, requests for prenatal testing for conditions such as BPES are not common.
## Diagnosis
### Clinical Diagnosis
The diagnosis of blepharophimosis syndrome (BPES) is based primarily on the following four clinical findings, which are present at birth [Oley & Baraitser 1995]:
* Blepharophimosis. Narrowing of the horizontal aperture of the eyelids. In normal adults, the horizontal palpebral fissure measures 25-30 mm; in individuals with BPES, it generally measures 20-22 mm.
* Ptosis. Drooping of the upper eyelid causing a narrowing of the vertical palpebral fissure. In individuals with BPES, ptosis is secondary to dysplasia of the musculus levator palpebrae superioris. To compensate for the ptosis, affected individuals:
* Use the musculus frontalis, wrinkling the forehead to draw the eyebrows upward, which results in a characteristic facial appearance
* Tilt their head backward into a chin-up position
* Epicanthus inversus. A skin fold arising from the lower eyelid and running inwards and upwards.
* Telecanthus. Lateral displacement of the inner canthi with normal interpupillary distance.
Note: A study of ten individuals with molecularly confirmed BPES showed that all had lateral displacement of the inferior punctum (i.e., in the lower eyelid) resulting from a temporal displacement of the entire lower eyelid. This proved to be an important anatomical hallmark in the diagnosis of BPES [Decock et al 2011a].
Two types of blepharophimosis syndrome have been described [Zlotogora et al 1983]:
* BPES type I includes the four major features and female infertility caused by premature ovarian insufficiency (POI).
* BPES type II includes only the four major features.
### Testing
Females with premature ovarian insufficiency (POI) have:
* Endocrinologic findings of hypergonadotropic hypogonadism:
* Elevated serum concentrations of follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
* Decreased serum concentrations of estradiol and progesterone
* A small hypoplastic uterus and streak ovaries on pelvic ultrasound examination
Cytogenetic testing. Cytogenetic rearrangements involving 3q23 (i.e., unbalanced translocations and interstitial deletions) causing BPES have been reported [Fukushima et al 1991, Jewett et al 1993, Boccone et al 1994, Lawson et al 1995, De Baere et al 1999, Praphanphoj et al 2000, de Ru et al 2005, Alao et al 2012, González-González et al 2012 and references therein, Schlade-Bartusiak et al 2012]. Such cytogenetic rearrangements are estimated to occur in a very small fraction of individuals with BPES [Beysen et al 2009].
#### Molecular Genetic Testing
Gene. FOXL2 is the only gene currently known to be associated with BPES (Table 1).
### Table 1.
Summary of Molecular Genetic Testing Used in Blepharophimosis, Ptosis, and Epicanthus Inversus
View in own window
Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method 2
FOXL2Sequence analysis 372% 4
Deletion/duplication analysis 510%-15% 6, 7
Regulatory regions extragenic to FOXL2Deletion/duplication analysis of regions upstream of FOXL2 55% 8, 9
1\.
See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.
2\.
The detection rate using sequence analysis and MLPA is around 82% in familial as well as in simplex cases (i.e., a single occurrence in a family) [De Baere et al 2003, Beysen et al 2005, Beysen et al 2009].
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
De Baere et al [2003], Beysen et al [2008a], Beysen et al [2009]
5\.
Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.
6\.
Multiplex ligation-dependent probe amplification (MPLA) detected partial- or whole-gene deletions in approximately 10% of individuals with typical BPES [Beysen et al 2005, Beysen et al 2009].
7\.
Cytogenetic rearrangements involving 3q23 (i.e., unbalanced translocations and interstitial deletions) that cause BPES are often accompanied by additional findings, such as microcephaly, intellectual disability, and growth delay [Fukushima et al 1991, Jewett et al 1993, Boccone et al 1994, Lawson et al 1995, De Baere et al 1999, Praphanphoj et al 2000, de Ru et al 2005 and references therein, Alao et al 2012, González-González et al 2012, Schlade-Bartusiak et al 2012]. Note: Balanced translocations involving 3q23 lead to classic BPES type I or II without additional findings.
8\.
MLPA and other methods for deletion/duplication analysis (see footnote 6) may detect partial-, whole-, or contiguous-gene deletions or upstream regulatory deletions, depending on the experimental design [Beysen et al 2009, D'haene et al 2009].
9\.
Beysen et al [2005], Beysen et al [2009], D'haene et al [2009], Verdin et al [2013]
### Testing Strategy
To confirm the diagnosis in a proband
* Molecular genetic testing of FOXL2, including sequence analysis and deletion/duplication analysis
* If no FOXL2 pathogenic variant or genomic rearrangement of FOXL2 and neighboring region(s) can be identified on molecular genetic testing, chromosome analysis may be considered depending on the family history and the individual’s phenotype (e.g., chromosomal microarray to screen for copy number variants in targeted regulatory regions 5' to FOXL2 and karyotyping to screen for chromosomal structural rearrangements such as balanced translocations or inversions).
* In persons with BPES-like phenotypes without a FOXL2 pathogenic variant or genomic rearrangement of FOXL2 and neighboring region(s), whole-genome chromosomal microarray to screen for copy number variants [Gijsbers et al 2008] is recommended to identify the underlying genetic cause of the phenotype (see Genetically Related Disorders).
## Clinical Characteristics
### Clinical Description
Blepharophimosis syndromes (BPES) type I and type II are a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I also includes female infertility caused by premature ovarian insufficiency (POI).
Other features frequently observed in both BPES type I and type II are a broad nasal bridge, low-set ears, and a short philtrum.
Associated ophthalmic manifestations include dysplastic eyelids (lack of eyelid folds and thin skin); S-shaped border of the upper eyelid and abnormal downward concavity of the lower eyelid with lateral ectropion; and nasolacrimal drainage problems caused by lateral displacement, duplication, or stenosis of the lacrimal puncta.
A retrospective study in 204 individuals with BPES showed manifest strabismus in 20%, a significant refractive error in 34%, and bilateral or unilateral amblyopia in 21% and 20%, respectively [Dawson et al 2003]. The incidences of strabismus, refractive errors (anisometropic hypermetropia and myopia), and amblyopia are higher in individuals with BPES than in the general population [Beckingsale et al 2003, Dawson et al 2003, Choi et al 2006].
Secondary sexual characteristics are usually normal in both BPES type I and type II.
In BPES type I, menarche is usually normal, followed by oligomenorrhea and secondary amenorrhea.
Individuals with BPES who have an intragenic FOXL2 pathogenic variant (in contrast to individuals with a contiguous gene deletion that includes FOXL2) are expected to have normal intelligence.
### Genotype-Phenotype Correlations
Pathogenic variants predicted to result in proteins truncated before the polyalanine tract preferentially lead to POI (BPES type I). Note: The need for careful interpretation of genotype-phenotype correlations is illustrated by the co-occurrence of BPES type I and isolated POI in a three-generation family.
Polyalanine expansions preferentially lead to BPES type II. The first case with a positive correlation between the size of the polyalanine expansion, its dosage, and the penetrance of the BPES phenotype was reported by Nallathambi et al [2007].
Click here (pdf) for additional findings observed with some FOXL2 pathogenic variants.
### Penetrance
To date, almost all individuals heterozygous for a FOXL2 pathogenic variant have the BPES phenotype; thus, penetrance is nearly complete for the eyelid phenotype.
The exception is a consanguineous Indian family in which heterozygotes for a short polyalanine expansion of 19 alanines are unaffected, but homozygotes have typical BPES (with documented POI in one female) [Nallathambi et al 2007] (see Molecular Genetics).
### Prevalence
The prevalence of BPES is unknown.
No differences in prevalence based on sex, race, or ethnicity have been reported.
## Differential Diagnosis
The differential diagnosis of BPES includes those conditions in which ptosis or blepharophimosis is a major feature (Table 2) [Oley & Baraitser 1995]; however, in clinical practice, blepharophimosis syndrome can be relatively easily distinguished from most of these conditions.
### Table 2.
Overview of Conditions in which Ptosis and/or Blepharophimosis is a Prominent Feature
View in own window
SyndromeMOICharacteristicsOMIM
Hereditary congenital ptosis 1 (PTOS1)ADPtosis178300
Hereditary congenital ptosis 2 (PTOS2)XLPtosis300245
Ohdo blepharophimosis syndromeAD 1
* Blepharophimosis, blepharoptosis
* ID
* Congenital heart defects
* Hypoplastic teeth
249620
3MC syndrome 1 (Michels syndrome)
* Blepharophimosis, blepharoptosis, epicanthus inversus, ophthalmic anterior segment defects (cornea)
* Cleft lip/palate
* Minor skeletal abnormalities
257920
Ptosis with external ophthalmoplegiaARPtosis, ophthalmoplegia, miosis, decreased accommodation, strabismus, amblyopia258400
Noonan syndromeAD
* Ptosis
* Short stature
* Heart defects
* Blood clotting deficiencies
163950
Marden-Walker syndromeAR
* Ptosis, blepharophimosis
* Growth retardation
* Neurologic defects (ID, absent primitive reflexes)
248700
Schwartz-Jampel syndrome
* Ptosis (intermittent), blepharophimosis, telecanthus, cataract
* Short stature
* Cartilage & skeletal anomalies
* Muscle hypertrophy
255800
Dubowitz syndrome
* Ptosis, blepharophimosis, lateral telecanthus
* Short stature
* ID
* Immunologic deficiencies
223370
Smith-Lemli-Opitz syndrome
* Ptosis, epicanthus, cataract
* Growth retardation, ID
* Severe GU, cardiac, GI anomalies
270400
KANSL1-related intellectual disability syndrome (17q21.31 microdeletion syndrome) 2AD
* DD w/mild-to-moderate ID
* Characteristic facies: long face, high forehead, ptosis, blepharophimosis, large low-set ears, bulbous nasal tip, pear-shaped nose
* Nasal speech
* Cardiac septal defects, seizures, cryptorchidism
* Friendly disposition
610443
Oley & Baraitser [1995], OMIM
AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; GI = gastrointestinal; GU = genitourinary; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked
1\.
Presumed mode of inheritance
2\.
Gijsbers et al [2008]
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with blepharophimosis syndrome (BPES), the following evaluations are recommended:
* Examination by a (pediatric) ophthalmologist for visual acuity, refractive error, extraocular movement, strabismus, size of palpebral apertures, and eyelid elevation. Those with amblyopia or strabismus should be referred to a pediatric ophthalmologist for management [Beckingsale et al 2003].
* Genetic evaluation and genetic counseling by a clinical geneticist to discuss recurrence risk and assess risk for premature ovarian insufficiency (POI). In girls with BPES, the family history can indicate the type of BPES in affected females (with type I inferred by the association with subfertility or infertility). In uninformative families or simplex cases (i.e., single occurrence in a family), molecular genetic testing may be helpful in some cases in assessing the risk for POI.
* Referral of females with BPES to a pediatric or adult endocrinologist during late puberty or early adulthood to assess onset and course of POI
### Treatment of Manifestations
Management requires the input of specialists including a clinical geneticist, pediatric ophthalmologist, oculoplastic surgeon, (pediatric or adult) endocrinologist, reproductive endocrinologist, and gynecologist.
Eyelid surgery. Timing of eyelid surgery is controversial; it involves weighing the balance of early surgery to prevent deprivation amblyopia and late surgery to allow for more reliable ptosis measurements, the latter of which provides a better surgical outcome. Furthermore, ptosis surgery is hampered by the dysplastic structure of the eyelids [Beckingsale et al 2003].
The surgical management is traditionally performed in two stages and involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at ages three to five years, followed about a year later by ptosis correction, which usually requires a brow suspension procedure.
Many surgical techniques have been described for medial canthoplasty and none of the existing methods is free from criticism. If the epicanthal folds are small, a Y-V canthoplasty is traditionally used; if the epicanthal folds are severe, a double Z-plasty is used. An alternate technique for medial canthoplasty has been described recently using the skin redraping method, which has a simple flap design, less scarring, and the effective repair of epicanthus inversus and telecanthus [Sa et al 2012].
To correct telecanthus, the medial canthal tendon is usually shortened or fused with a transnasal wire.
Ptosis correction is particularly important as it can address the disfigurement as well as functional concerns. Frontal muscle flap suspension is mostly used for severe ptosis in adults; however, it remains controversial. A major concern is that the frontal muscle development may be restrained by surgery. Decock et al [2011b] reported that super-maximal resection and frontalis suspension is the preferred method as it leads to a good cosmetic outcome as well as to an improved muscle function.
Alternatively, a one-stage procedure in which medial canthoplasty and ptosis correction are performed simultaneously has been described [Wu et al 2008]. Two recent retrospective, interventional studies including 21 patients demonstrated that one-stage correction using a standard combination of surgical techniques is safe and efficient [Sebastiá et al 2011, Liu et al 2014].
Recent insights into the causes of the abnormal lower eyelid positioning allow a more targeted surgical reconstruction that produces a more natural appearance [Decock et al 2011a]. Ten individuals with molecularly proven BPES were noted to have a laterally displaced inferior punctum (i.e., in the lower eyelid) due to temporal displacement of the entire lower eyelid. Addition of a simple surgical step corrected the position of the lower eyelid and its abnormal downward concavity (the temporal ectropion), and the lateral displacement of the inferior punctum. This approach eliminates the epicanthus inversus fold without the need for double Z-plasty [Decock et al 2011b].
Ovarian insufficiency. Management of premature ovarian insufficiency (POI) needs to address the two following major medical issues that are applicable to primary ovarian insufficiency in general and not specific for BPES (no data specific to BPES are available):
* Hormone replacement therapy (HRT). The American Society for Reproductive Medicine and the International Menopause Society recommend estrogen replacement therapy for women with primary ovarian insufficiency (amenorrhea and a menopausal serum FSH concentration). Although no data from randomized trials guide the use of hormonal therapy in women with BPES and POI, a reasonable regimen would be 100 μg of transdermal estradiol and 10 mg of oral medroxyprogesterone acetate daily for the first 12 days of each month. Women should keep a menstrual calendar and have a pregnancy test promptly in the case of late menses [Nelson 2009].
A pelvic ultrasound examination and measurement of bone mineral density are indicated at the time of diagnosis of ovarian insufficiency. Women with primary ovarian insufficiency should be encouraged to maintain a lifestyle that optimizes bone and cardiovascular health, including engaging in regular weight-bearing exercise, maintaining an adequate intake of calcium (1200 mg daily) and vitamin D (at least 800 IU daily), eating a healthy diet to avoid obesity, and undergoing screening for cardiovascular risk factors, with treatment of any identified risk factors.
* Infertility. No therapies have been shown to restore ovarian function and fertility. Some couples are averse to adoption and to reproductive technologies and are content not to become parents.
For couples who decide to pursue parenthood actively, the options are adoption, foster parenthood, embryo donation, and egg donation. The rates of pregnancy with egg donation appear to be similar among older and younger women. Women with primary ovarian insufficiency who become pregnant as a result of oocyte donation may have an increased risk of delivering infants who are small for gestational age and of having pregnancy-induced hypertension and postpartum hemorrhage, but these findings are controversial [Nelson 2009].
The issue of POI is emotionally charged and should be discussed with the patient with this in mind.
### Surveillance
The frequency of ophthalmic follow-up should be individualized depending on age, procedures performed in the past, and results of visual acuity testing.
Endocrinologic and gynecologic follow up are advised in females in whom the BPES type is unknown or in whom BPES type I is suspected based on a positive family history or FOXL2 pathogenic variant. Frequency of endocrinologic follow-up to monitor ovarian status is individualized and can involve pelvic ultrasound examination, measurement of serum FSH concentrations, and assessment of menstrual pattern (ages of menarche and onset of oligomenorrhea and secondary amenorrhea).
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Ovarian transplantation has been performed in rare instances in which the affected woman has an identical twin sister with normal ovarian function [Nelson 2009].
Note: (1) Cryopreservation has not yet been reported in BPES. (2) Children who are at risk for POI are most likely to benefit from cryopreservation as their ovaries contain more primordial follicles than those of adult women; it is expected that by the time these children are mature and need their ovarian tissue, the modalities for its optimal use would become available. (3) At the time that they might wish to consider an IVF procedure, adult women with BPES usually do not have sufficient appropriate primordial follicles for embryo cryopreservation.
Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Blepharophimosis, Ptosis, and Epicanthus Inversus
|
c0220663
| 26,010 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1441/
| 2021-01-18T21:39:10 |
{"mesh": ["C562419"], "synonyms": ["Blepharophimosis Syndrome", "BPES"]}
|
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-103 (MRX103) is caused by hemizygous mutation in the KLHL15 gene (300980) on chromosome Xp22.
Clinical Features
Mignon-Ravix et al. (2014) reported a 4-year-old boy with intellectual disability and absent speech. The boy had delayed psychomotor development and developed epilepsy at 13 months of age. He also had coarse facial features, anteverted nares, large mouth, short hands, and abnormal genitalia with micropenis and cryptorchidism. Brain MRI demonstrated polymicrogyric-like appearance of the central areas and parietal lobes, mild enlargement of the lateral ventricles, and underdeveloped white matter in the temporal lobes. The parents were mildly disabled.
Hu et al. (2016) reported a large multigenerational family (D60) in which 8 males had mild to moderate intellectual disability and mild facial features. Additional clinical details were not provided.
Inheritance
The transmission pattern of MRX103 in the family reported by Mignon-Ravix et al. (2014) was consistent with X-linked dominant inheritance, whereas the transmission pattern in the family reported by Hu et al. (2016) was consistent with X-linked recessive inheritance.
Molecular Genetics
In a boy with MRX103, Mignon-Ravix et al. (2014) identified a hemizygous intragenic 22.5-kb deletion in the KLHL15 gene (300980.0001). His mildly affected mother was found to carry the deletion and to have skewed X-chromosome inactivation in lymphocyte DNA (90:10). The patient was ascertained from a cohort of 54 males with X-linked intellectual disability who were analyzed by array CGH. Sanger sequencing of the coding exons of the KLHL15 gene in 16 patients with various forms of polymicrogyria did not identify any other mutations. Functional studies of the variant and studies on patient cells were not performed.
In 8 affected males from a large multigenerational family (D60) with MRX103, Hu et al. (2016) identified a hemizygous truncating mutation in the KLHL15 gene (300980.0002). The mutation was found by X-chromosome exome sequencing and segregated with the disorder in the family. Functional studies of the variant were not performed.
INHERITANCE \- X-linked recessive HEAD & NECK Face \- Coarse facial features (patient A) Nose \- Anteverted nares (patient A) Mouth \- Large mouth (patient A) GENITOURINARY External Genitalia (Male) \- Micropenis (patient A) Internal Genitalia (Male) \- Cryptorchidism (patient A) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Absent speech (patient A) \- Seizures (patient A) \- Polymicrogyria (patient A) \- Underdeveloped white matter (patient A) \- Enlarged ventricles (patient A) MISCELLANEOUS \- Two unrelated families have been reported \- A female carrier in 1 family was mildly affected MOLECULAR BASIS \- Caused by mutation in the Kelch-like 15 gene (KLHL15, 300980.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MENTAL RETARDATION, X-LINKED 103
|
c4310818
| 26,011 |
omim
|
https://www.omim.org/entry/300982
| 2019-09-22T16:19:02 |
{"omim": ["300982"]}
|
A number sign (#) is used with this entry because primary pigmented nodular adrenocortical disease-2 (PPNAD2) is caused by heterozygous mutation in the phosphodiesterase-11A gene (PDE11A; 604961) on chromosome 2q31.
For a general phenotypic description and a discussion of genetic heterogeneity of primary pigmented nodular adrenocortical disease, see PPNAD1 (610489).
Clinical Features
Horvath et al. (2006) identified 10 individuals with Cushing syndrome and adrenocortical hyperplasia who did not have PRKAR1A mutations. In most of these individuals, the adrenal glands had an overall normal size and weight and featured multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there was moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits, and massive circumscribed and infiltrating extraadrenal cortical excrescences with micronodules. Although overall there was no pigmentation by regular microscopy, electron microscopy showed granules of lipofuscin and features of a cortisol-producing adrenocortical hyperplasia.
Molecular Genetics
In affected members of 2 unrelated families with adrenal Cushing syndrome due to PPNAD2, Horvath et al. (2006) identified 2 different heterozygous mutations in the PDE11A gene (604961.0001; 604961.0002). Adrenal tumor tissues showed loss of heterozygosity (LOH) for 2q31-q35, decreased protein expression, and high cyclic nucleotide levels and cAMP-responsive element-binding protein (CREB; 123810) phosphorylation. Horvath et al. (2006) concluded that the pathophysiologic mechanism is linked to increased cAMP levels, as seen in patients with McCune-Albright syndrome (MAS; 174800) and PPNAD1.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Truncal obesity HEAD & NECK Face \- Round face CARDIOVASCULAR Vascular \- Hypertension SKELETAL \- Decreased bone mineral density \- Osteoporosis Spine \- Kyphosis SKIN, NAILS, & HAIR Skin \- Thin skin \- Striae \- Easy bruising NEUROLOGIC Central Nervous System \- Cognitive decline Behavioral Psychiatric Manifestations \- Mood changes \- Depression \- Agitation \- Anxiety \- Psychosis ENDOCRINE FEATURES \- Cushing syndrome \- Pigmented micronodular adrenocortical disease \- ACTH-independent hypercortisolemia \- Adrenal glands may be normal, atrophic, or slightly enlarged LABORATORY ABNORMALITIES \- Increased serum cortisol \- Paradoxical increased cortisol secretion on dexamethasone suppression test \- Decreased serum ACTH MISCELLANEOUS \- Onset in childhood or young adulthood \- Manifestations of Cushing syndrome may be mild \- Genetic heterogeneity, see PPNAD1 ( 610489 ) MOLECULAR BASIS \- Caused by mutation in the phosphodiesterase 11A gene (PDE11A, 604961.0001 ) ▲ 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
|
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
|
c1864851
| 26,012 |
omim
|
https://www.omim.org/entry/610475
| 2019-09-22T16:04:28 |
{"doid": ["0060280"], "mesh": ["C566472"], "omim": ["610475"], "orphanet": ["189439"], "synonyms": ["PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2", "Primary pigmented nodular adrenal dysplasia", "Alternative titles", "CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2", "PPNAD"]}
|
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: "Chorditis" – news · newspapers · books · scholar · JSTOR (November 2014) (Learn how and when to remove this template message)
Chorditis
SpecialtyPulmonology
Chorditis is the inflammation of vocal cords (vocal folds) usually as a result of voice abuse but sometimes because of cancer.[1]
## Contents
* 1 Types
* 2 See also
* 3 References
* 4 External links
## Types[edit]
* Chorditis fibrinosa
* Chorditis nodosa[2]
* Chorditis tuberosa[3]
## See also[edit]
* Vocal fold nodule
## References[edit]
1. ^ "chorditis". Merriam-webster. Retrieved 4 November 2014.
2. ^ Laurent, FV (30 September 1911). ""Singer's nodule" (Chorditis nodosa) removed by vocal treatment". Journal of the American Medical Association. LVII (14): 1131. doi:10.1001/jama.1911.04260090353018.
3. ^ Hodgkinson, A (Nov 2, 1895). "Chorditis Tuberosa". Br Med J. 2 (1818): 1099. doi:10.1136/bmj.2.1818.1099. PMC 2511393. PMID 20755801.
## External links[edit]
Classification
D
* ICD-10: J38.2
* ICD-9-CM: 478.5
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chorditis
|
c0264314
| 26,013 |
wikipedia
|
https://en.wikipedia.org/wiki/Chorditis
| 2021-01-18T19:00:12 |
{"umls": ["C0264314"], "icd-9": ["478.5"], "icd-10": ["J38.2"], "wikidata": ["Q5104989"]}
|
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Syndactyly type 1
|
c1861380
| 26,014 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93402
| 2021-01-23T16:54:19 |
{"gard": ["5081"], "mesh": ["C566096"], "omim": ["185900", "609815"], "umls": ["C1861380"], "icd-10": ["Q70.0", "Q70.1", "Q70.2", "Q70.3"]}
|
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
|
None
| 26,015 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477787
| 2021-01-23T17:06:52 |
{"omim": ["618372"], "synonyms": ["PLA2G4A-related platelet dysfunction", "Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"]}
|
Migraine-associated vertigo
Other namesMigraine-associated vertigo (MAV), Migrainous vertigo, Migraine-related vestibulopathy.
SpecialtyNeurology
Vestibular migraine (VM) is vertigo associated with a migraine, either as a symptom of migraine or as a related but neurological disorder, when referred to as a disease unto itself.
A 2010 report from the University of British Columbia published in the journal Headache said that "'Migraine associated vertigo' is emerging as a popular diagnosis for patients with recurrent vertigo" but, "in contrast to basilar artery migraine, is neither clinically nor biologically plausible as a migraine variant."[1] Epidemiological studies leave no doubt that there is a strong link between vertigo and migraine.[2]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
Vertigo is a medically recognized term for the symptom of a vestibular system disturbance. It may include a feeling of rotation or illusory sensations of motion or both. The general term dizziness is used by nonmedical people for those symptoms but often refers to a feeling of light-headedness, giddiness, drowsiness, or faintness, all of which must be differentiated from true vertigo,[3] since the latter symptoms might have other causes.
Motion sickness occurs more frequently in migraine patients (30–50% more than in controls).[4] Benign paroxysmal vertigo of childhood is an example of migraine-associated vertigo in which headache does not often occur.[5] Basilar artery migraine (BAM) consists of two or more symptoms (vertigo, tinnitus, decreased hearing, ataxia, dysarthria, visual symptoms in both hemifields or both eyes, diplopia, bilateral paresthesias, paresis, decreased consciousness and/or loss of consciousness) followed by throbbing headache. Auditory symptoms are rare. However, a study showed a fluctuating low-tone sensorineural hearing loss in more than 50% of patients with BAM with a noticeable change in hearing just before the onset of a migraine headache. The attacks of vertigo are usually concurrent with a headache and the family history is usually positive. The diagnostician must rule out: TIAs, and paroxysmal vestibular disorder[6] accompanied by headache.
There is also a familial vestibulopathy, familial benign recurrent vertigo (fBRV), where episodes of vertigo occur with or without a migraine headache. Testing may show profound vestibular loss. The syndrome responds to acetazolamide. Familial hemiplegic migraine (FHM) has been linked to mutations in the calcium channel gene. (Ophoff et al. 1966 cf. Lempert et al.)[5]
## Pathophysiology[edit]
The pathophysiology of MAV is not completely understood; both central and peripheral defects have been observed.[7]
## Diagnosis[edit]
By the Consensus document of the Barány Society and the International Headache Society on the diagnostic criteria of vestibular migraine, the diagnostic criteria of vestibular migraine are:[8]
1. At least 5 episodes with vestibular symptoms of moderator or severe intensity, lasting 5 minutes to 72 hours
2. Current or previous history of migraine with or without aura according to the International Classification of Headache Disorders (ICHD)
3. One or more migraine features with at least 50% of the vestibular episodes:
* headache with at least two of the following characteristics: one sided location, pulsaing quality, moderate or severe pain intensity, aggravation by routine physical activity
* photophobia and phonophobia
* visual aura
4. Not better accounted for by another vestibular or ICHD diagnosis
The diagnostic criteria of probable vestibular migraine are:
1. At least 5 episodes with vestibular symptoms of moderate or severe intensity, lasting 5 minutes to 72 hours
2. Only one of the criteria B and C for vestibular migraine is fulfilled (migraine history or migraine features during the episode)
3. Not better accounted for by another vestibular or ICHD diagnosis
### Classification[edit]
Benign paroxysmal positional vertigo
Migraine is commonly associated with BPPV, the most common vestibular disorder in patients presenting with dizziness. The two may be linked by genetic factors or by vascular damage to the labyrinth.[5]
Ménière's disease
There is an increased prevalence of migraine in patients with Ménière's disease and migraine leads to a greater susceptibility of developing Ménière’s disease. But they can be distinguished. Ménière's disease may go on for days or even years, while migraines typically do not last longer than 24 hours.[5]
Motion sickness
More prevalent in patients with migraine.[5]
Psychiatric syndromes
Dizziness and spinning vertigo are the second most common symptom of panic attacks, and they can also present as a symptom of major depression. Migraine is a risk factor for developing major depression and panic disorder and vice versa.[5]
## Treatment[edit]
Treatment of migraine-associated vertigo is the same as the treatment for migraine in general.[9] There is not enough evidence to indicate which medications are most effective for preventing vestibular migraine.[10]
## Epidemiology[edit]
The prevalence of migraine and vertigo is 1.6 times higher in 200 dizziness clinic patients than in 200 age- and sex-matched controls from an orthopaedic clinic. Among the patients with unclassified or idiopathic vertigo, the prevalence of migraine was shown to be elevated. In another study, migraine patients reported 2.5 times more vertigo and also 2.5 more dizzy spells during headache-free periods than the controls.[5]
MAV may occur at any age with a female:male ratio of between 1.5 and 5:1. Familial occurrence is not uncommon. In most patients, migraine headaches begin earlier in life than MAV with years of headache-free periods before MAV manifests.[5]
In a diary study, the 1-month prevalence of MAV was 16%, frequency of MAV was higher and duration longer on days with headache, and MAV was a risk factor for co-morbid anxiety.[11]
## References[edit]
1. ^ Phillips J, Longridge N, Mallinson A, Robinson G (August 2010). "Migraine and Vertigo: A Marriage of Convenience?". Headache. 50 (8): 1362–1365. doi:10.1111/j.1526-4610.2010.01745.x. PMID 20738416.
2. ^ von Brevern, M; Baloh RW; Bisdorff A; Brandt T; Bronstein AM; Furman JM; Goadsby PJ; Neuhauser H; Radtke A; Versino M (2011). "Response to: Migraine and Vertigo: A Marriage of Convenience?". Headache. 51 (2): 308–309. doi:10.1111/j.1526-4610.2010.01834.x. PMID 21284614.
3. ^ Lempert T, Neuhauser H (August 2005). "Migrainous vertigo". Neurol Clin. 23 (3): 715–730, vi. doi:10.1016/j.ncl.2005.01.003. PMID 16026673.
4. ^ Neuhauser H, Lempert T (February 2004). "Vertigo and dizziness related to migraine: a diagnostic challenge". Cephalalgia. 24 (2): 83–91. doi:10.1111/j.1468-2982.2004.00662.x. PMID 14728703.
5. ^ a b c d e f g h Lempert T, Neuhauser H (March 2009). "Epidemiology of vertigo, migraine and vestibular migraine". J. Neurol. 256 (3): 333–8. doi:10.1007/s00415-009-0149-2. PMID 19225823.
6. ^ "Vestibular Paroxysmia Treatment, Symptoms, Diagnosis, Treatment, Causes". Vertigo Clinic & Treatment in Rajasthan India. Retrieved 2020-12-14.
7. ^ Cal R, Bahmad Jr F (2008). "Migraine associated with auditory-vestibular dysfunction" (PDF). Braz J Otorhinolaryngol. 74 (4): 606–12. doi:10.1016/S1808-8694(15)30611-X. PMID 18852990.
8. ^ Lempert T, et al. (2012). "Vestibular migraine: Diagnostic criteria. Consensus document of the Barány Society and the International Headache Society". Journal of Vestibular Research. 22 (4): 167–172. doi:10.3233/VES-2012-0453. PMID 23142830.
9. ^ Fotuhi M, Glaun B, Quan SY, Sofare T (May 2009). "Vestibular migraine: a critical review of treatment trials". J. Neurol. 256 (5): 711–6. doi:10.1007/s00415-009-5050-5. PMID 19252785.
10. ^ Maldonado Fernández, Miguel; Birdi, Jasminder S.; Irving, Greg J.; Murdin, Louisa; Kivekäs, Ilkka; Strupp, Michael (2015-06-21). "Pharmacological agents for the prevention of vestibular migraine". The Cochrane Database of Systematic Reviews (6): CD010600. doi:10.1002/14651858.CD010600.pub2. ISSN 1469-493X. PMC 6494480. PMID 26093662.
11. ^ Salhofer, S; Lieba-Samal D; Freydl E; Bartl S; Wiest G; Wöber C (2010). "Migraine and vertigo--a prospective diary study". Cephalalgia. 30 (7): 821–828. doi:10.1177/0333102409360676. PMID 20647173.
## External links[edit]
Classification
D
External resources
* eMedicine: article/884136
* eMedicine article
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Migraine-associated vertigo
|
None
| 26,016 |
wikipedia
|
https://en.wikipedia.org/wiki/Migraine-associated_vertigo
| 2021-01-18T19:01:18 |
{"wikidata": ["Q6844287"]}
|
This condition is characterized by asymmetrical cartilaginous overgrowth of one or more epiphyses of a tarsal or carpal bone, and less often other bones. Males are affected about 3 times more often than females. The disorder appears to have no simple mendelian basis. No familial case has been reported. Donalson et al. (1953) described a patient whose monozygotic twin was not affected. Wiedemann et al. (1981) described a case with involvement of both legs and, to a lesser extent, of the arms, and suggested that this is a systemic disorder. It is likely that the familial disorder described in 127820 is a separate entity.
Skel \- Asymmetrical cartilaginous overgrowth of epiphyses, esp \- tarsal or carpal Misc \- 3:1 M:F ratio Inheritance \- No familial case reported ▲ 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
|
DYSPLASIA EPIPHYSEALIS HEMIMELICA
|
c0432282
| 26,017 |
omim
|
https://www.omim.org/entry/127800
| 2019-09-22T16:42:03 |
{"mesh": ["C537997"], "omim": ["127800"], "orphanet": ["1822"], "synonyms": ["Alternative titles", "TREVOR DISEASE"]}
|
Jammes et al. (1973) described 2 brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelorism, downward slanted palpebral slits, protruding tongue, kyphoscoliosis, and marked difficulty walking. No parental consanguinity was noted.
HEENT \- Macrocephaly \- Hypertelorism \- Downward slanted palpebral fissures \- Protruding tongue Misc \- Difficulty walking Neuro \- Mental retardation Inheritance \- Autosomal recessive Skel \- Kyphoscoliosis ▲ 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
|
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION
|
c1856893
| 26,018 |
omim
|
https://www.omim.org/entry/227250
| 2019-09-22T16:28:06 |
{"mesh": ["C565580"], "omim": ["227250"]}
|
Progressive macular hypomelanosis
SpecialtyDermatology
Progressive macular hypomelanosis is a common skin condition, a disorder, observed more frequently in young women with darkly pigmented skin who originate from or reside in tropical climates.[1]
An interesting property of the skin condition is that it can be easily identified using a Wood's lamp. The lack of pigment results and a clear observation of homogeneous white areas, while the involvement of Cutibacterium acnes will show an orange fluorescence due to its coproporphyrin III. That way it can be differentiated from other hypopigmentary disorders such as vitiligo."[2]
## See also[edit]
* Riehl melanosis
* 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. ^ Westerhof W, Relyveld GN, Kingswijk MM, de Man P, Menke HE, Propionibacterium acnes and the pathogenesis of progressive macular hypomelanosis, Arch Dermatol. 2004 Feb;140(2):210-4.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Progressive macular hypomelanosis
|
None
| 26,019 |
wikipedia
|
https://en.wikipedia.org/wiki/Progressive_macular_hypomelanosis
| 2021-01-18T19:03:22 |
{"umls": ["CL936454"], "wikidata": ["Q56317043"]}
|
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ectodermal dysplasia, trichoodontoonychial type
|
c1851858
| 26,020 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1818
| 2021-01-23T18:57:41 |
{"gard": ["2055"], "mesh": ["C565068"], "omim": ["129510"], "umls": ["C1851858"], "icd-10": ["Q82.4"]}
|
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
The signs and symptoms of N-acetylglutamate synthase deficiency often become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have difficulty controlling his or her breathing rate or body temperature. Severely affected babies may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.
In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency do not appear until later in life. Some people with this form of the disorder notice that eating high-protein foods, such as meat, affects how they feel, although they may not know why. In many affected adults, illness or other stress can trigger episodes of vomiting, lack of coordination, headaches, confusion, behavioral changes, or coma.
## Frequency
N-acetylglutamate synthase deficiency is a very rare disorder. It is estimated to affect fewer than 1 in 2 million people worldwide.
## Causes
Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. This condition belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a process in the body called the urea cycle. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle breaks down excess nitrogen, which is made when protein is used by the body, to make a compound called urea. Urea is removed from the body in urine.
The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase, which is integral to the first step of the urea cycle.
In people with N-acetylglutamate synthase deficiency, N-acetylglutamate synthase is not available in sufficient quantities, or is not present at all. As a result, the urea cycle is impaired, and nitrogen is not broken down efficiently. The excess nitrogen accumulates in the blood in the form of ammonia. This buildup of ammonia damages tissues in the brain and causes neurological problems and other signs and symptoms of N-acetylglutamate synthase deficiency.
### Learn more about the gene associated with N-acetylglutamate synthase deficiency
* NAGS
## 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
|
N-acetylglutamate synthase deficiency
|
c0268543
| 26,021 |
medlineplus
|
https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency/
| 2021-01-27T08:25:21 |
{"gard": ["7158"], "mesh": ["C536109"], "omim": ["237310"], "synonyms": []}
|
Mouth ulcer
Other namesOral ulcer, mucosal ulcer
A mouth ulcer (in this case associated with aphthous stomatitis) on the labial mucosa (lining of the lower lip).
SpecialtyOral medicine
A mouth ulcer is an ulcer that occurs on the mucous membrane of the oral cavity.[1] Mouth ulcers are very common, occurring in association with many diseases and by many different mechanisms, but usually there is no serious underlying cause.
The two most common causes of oral ulceration are local trauma (e.g. rubbing from a sharp edge on a broken filling or braces, biting one's lip, etc.) and aphthous stomatitis ("canker sores"), a condition characterized by recurrent formation of oral ulcers for largely unknown reasons. Mouth ulcers often cause pain and discomfort and may alter the person's choice of food while healing occurs (e.g. avoiding acidic, sugary, salty or spicy foods and beverages).
They may form individually or multiple ulcers may appear at once (a "crop" of ulcers). Once formed, the ulcer may be maintained by inflammation and/or secondary infection. Rarely, a mouth ulcer that does not heal may be a sign of oral cancer.
## Contents
* 1 Definition
* 2 Differential diagnosis
* 2.1 Traumatic ulceration
* 2.1.1 Mechanical
* 2.1.2 Thermal and electrical burn
* 2.1.3 Chemical injury
* 2.1.4 Irradiation
* 2.2 Aphthous stomatitis
* 2.3 Infection
* 2.4 Drug-induced
* 2.5 Malignancy
* 2.6 Vesiculobullous diseases
* 2.7 Allergy
* 2.8 Other causes
* 3 Pathophysiology
* 4 Diagnostic approach
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Definition[edit]
Diagramatic representation of mucosal erosion (left), excoriation (center), and ulceration (right)
An ulcer (/ˈʌlsər/; from Latin ulcus, "ulcer, sore")[2] is a break in the skin or mucous membrane with loss of surface tissue and the disintegration and necrosis of epithelial tissue.[3] A mucosal ulcer is an ulcer which specifically occurs on a mucous membrane.
An ulcer is a tissue defect which has penetrated the epithelial-connective tissue border, with its base at a deep level in the submucosa, or even within muscle or periosteum.[4] An ulcer is a deeper breach of epithelium compared to an erosion or excoriation, and involves damage to both epithelium and lamina propria.[5]
An erosion is a superficial breach of the epithelium, with little damage to the underlying lamina propria.[5] A mucosal erosion is an erosion which specifically occurs on a mucous membrane. Only the superficial epithelial cells of the epidermis or of the mucosa are lost, and the lesion can reach the depth of the basement membrane.[4] Erosions heal without scar formation.[4]
Excoriation is a term sometimes used to describe a breach of the epithelium which is deeper than an erosion but shallower than an ulcer. This type of lesion is tangential to the rete pegs and shows punctiform (small pinhead spots) bleeding, caused by exposed capillary loops.[4]
## Differential diagnosis[edit]
Aphthous stomatitis and local trauma are very common causes of oral ulceration; the many other possible causes are all rare in comparison.[citation needed]
### Traumatic ulceration[edit]
A crop of trauma induced ulcers on the labial mucosa.
Most mouth ulcers that are not associated with recurrent aphthous stomatitis are caused by local trauma. The mucous membrane lining of the mouth is thinner than the skin, and easily damaged by mechanical, thermal (heat/cold), chemical, or electrical means, or by irradiation.[citation needed]
#### Mechanical[edit]
A small ulcer on the lower inside lip on the frenum.
Common causes of oral ulceration include rubbing on sharp edges of teeth, fillings, crowns, false teeth (dentures), or braces (orthodontic appliances), or accidental biting caused by a lack of awareness of painful stimuli in the mouth (e.g., following local anesthetic used during dental treatment, which the person becomes aware of as the anesthetic wears off).[citation needed]
Eating hard foods (e.g., potato chips) can damage the lining of the mouth. Some people cause damage inside their mouths themselves, either through an absentminded habit or as a type of deliberate self-harm (factitious ulceration). Examples include biting the cheek, tongue, or lips, or rubbing a fingernail, pen, or toothpick inside the mouth. Tearing (and subsequent ulceration) of the upper labial frenum may be a sign of child abuse (non-accidental injury).[5]
Iatrogenic ulceration can also occur during dental treatment, where incidental abrasions to the soft tissues of the mouth are common. Some dentists apply a protective layer of petroleum jelly to the lips before carrying out dental work to minimize this.[citation needed]
The lingual frenum is also vulnerable to ulceration by repeated friction during oral sexual activity ("cunnilingus tongue").[6] Rarely, infants can ulcerate the tongue or lower lip with the teeth, termed Riga-Fede disease.[7]
#### Thermal and electrical burn[edit]
Thermal burns usually result from placing hot food or beverages in the mouth. This may occur in those who eat or drink before a local anesthetic has worn off. The normal painful sensation is absent and a burn may occur. Microwave ovens sometimes produce food that is cold externally and very hot internally, and this has led to a rise in the frequency of intra-oral thermal burns. Thermal food burns are usually on the palate or posterior buccal mucosa, and appear as zones of erythema and ulceration with necrotic epithelium peripherally. Electrical burns more commonly affect the oral commissure (corner of the mouth). The lesions are usually initially painless, charred and yellow with little bleeding. Swelling then develops and by the fourth day following the burn the area becomes necrotic and the epithelium sloughs off.[6]
Electrical burns in the mouth are usually caused by chewing on live electrical wiring (an act that is relatively common among young children). Saliva acts as a conducting medium and an electrical arc flows between the electrical source and the tissues, causing extreme heat and possible tissue destruction.[6][8]
#### Chemical injury[edit]
Caustic chemicals may cause ulceration of the oral mucosa if they are of strong-enough concentration and in contact for a sufficient length of time. The holding of medication in the mouth instead of swallowing it occurs mostly in children, those under psychiatric care, or simply because of a lack of understanding. Holding an aspirin tablet next to a painful tooth in an attempt to relieve pulpitis (toothache) is common, and leads to epithelial necrosis. Chewable aspirin tablets should be swallowed, with the residue quickly cleared from the mouth.[citation needed]
Other caustic medications include eugenol and chlorpromazine. Hydrogen peroxide, used to treat gum disease, is also capable of causing epithelial necrosis at concentrations of 1–3%. Silver nitrate, sometimes used for pain relief from aphthous ulceration, acts as a chemical cauterant and destroys nerve endings, but the mucosal damage is increased. Phenol is used during dental treatment as a cavity sterilizing agent and cauterizing material, and it is also present in some over-the-counter agents intended to treat aphthous ulcerations. Mucosal necrosis has been reported to occur with concentrations of 0.5%. Other materials used in endodontics are also caustic, which is part of the reason why use of a rubber dam is now recommended.[6]
#### Irradiation[edit]
As a result of radiotherapy to the mouth, radiation-induced stomatitis may develop, which can be associated with mucosal erosions and ulceration. If the salivary glands are irradiated, there may also be xerostomia (dry mouth), making the oral mucosa more vulnerable to frictional damage as the lubricating function of saliva is lost, and mucosal atrophy (thinning), which makes a breach of the epithelium more likely. Radiation to the bones of the jaws causes damage to osteocytes and impairs the blood supply. The affected hard tissues become hypovascular (reduced number of blood vessels), hypocellular (reduced number of cells), and hypoxic (low levels of oxygen). Osteoradionecrosis is the term for when such an area of irradiated bone does not heal from this damage. This usually occurs in the mandible, and causes chronic pain and surface ulceration, sometimes resulting in non-healing bone being exposed through a soft tissue defect. Prevention of osteradionecrosis is part of the reason why all teeth of questionable prognosis are removed before the start of a course of radiotherapy.[6]
### Aphthous stomatitis[edit]
An aphthous ulcer on the labial mucosa. Note erythematous halo surrounding lesion.
Main article: Aphthous stomatitis
Aphthous stomatitis (also termed recurrent aphthous stomatitis, RAS, and commonly called "canker sores") is a very common cause of oral ulceration. 10–25% of the general population suffer from this non-contagious condition. Three types of aphthous stomatitis exists based on their appearance, namely minor, major and herpetiform major aphthous ulceration. Minor aphthous ulceration is the most common type, presenting with 1–6 small (2-4mm diameter), round/oval ulcers with a yellow-grey color and an erythematous (red) "halo". These ulcers heal with no permanent scarring in about 7–10 days. Ulcers recur at intervals of about 1–4 months. Major aphthous ulceration is less common than the minor type, but produces more severe lesions and symptoms. Major aphthous ulceration presents with larger (>1 cm diameter) ulcers that take much longer to heal (10–40 days) and may leave scarring. The minor and major subtypes of aphthous stomatitis usually produce lesions on the non-keratinized oral mucosa (i.e. the inside of the cheeks, lips, underneath the tongue and the floor of mouth), but less commonly major aphthous ulcers may occur in other parts of the mouth on keratinized mucosal surfaces. The least common type is herpetiform ulceration, so named because the condition resembles primary herpetic gingivostomatitis. Herpetiform ulcers begin as small blisters (vesicles) which break down into 2-3mm sized ulcers. Herpetiform ulcers appear in "crops" sometimes hundreds in number, which can coalesce to form larger areas of ulceration. This subtype may cause extreme pain, heals with scarring and may recur frequently.
The exact cause of aphthous stomatitis is unknown, but there may be a genetic predisposition in some people. Other possible causes include hematinic deficiency (folate, vitamin B, iron), stopping smoking, stress, menstruation, trauma, food allergies or hypersensitivity to sodium lauryl sulphate (found in many brands of toothpaste). Aphthous stomatitis has no clinically detectable signs or symptoms outside the mouth, but the recurrent ulceration can cause much discomfort to sufferers. Treatment is aimed at reducing the pain and swelling and speeding healing, and may involve systemic or topical steroids, analgesics (pain killers), antiseptics, anti-inflammatories or barrier pastes to protect the raw area(s).[5]
### Infection[edit]
Infectious causes of oral ulceration.[5] Agent Example(s)
Viral chickenpox, hand, foot and mouth disease, herpangina, herpetic stomatitis, human immunodeficiency virus, infectious mononucleosis
Bacterial acute necrotizing ulcerative gingivitis, syphilis, tuberculosis
Fungal blastomycosis, cryptococcosis, histoplasmosis, paracoccidioidomycosis
Parasitic leishmaniasis
Many infections can cause oral ulceration (see table). The most common are herpes simplex virus (herpes labialis, primary herpetic gingivostomatitis), varicella zoster (chicken pox, shingles), and coxsackie A virus (hand, foot and mouth disease). Human immunodeficiency virus (HIV) creates immunodeficiencies which allow opportunistic infections or neoplasms to proliferate. Bacterial processes leading to ulceration can be caused by Mycobacterium tuberculosis (tuberculosis) and Treponema pallidum (syphilis).[citation needed]
Opportunistic activity by combinations of otherwise normal bacterial flora, such as aerobic streptococci, Neisseria, Actinomyces, spirochetes, and Bacteroides species can prolong the ulcerative process. Fungal causes include Coccidioides immitis (valley fever), Cryptococcus neoformans (cryptococcosis), and Blastomyces dermatitidis ("North American Blastomycosis").[9] Entamoeba histolytica, a parasitic protozoan, is sometimes known to cause mouth ulcers through formation of cysts.[citation needed] Epstein-Barr virus-positive mucocutaneous ulcer is a rare form of the Epstein-Barr virus-associated lymphoproliferative diseases in which infiltrating, Epstein-Barr virus (i.e. EBV)-infected B cells cause solitary, well-circumscribed ulcers in mucous membranes and skin.[10]
### Drug-induced[edit]
Many drugs can cause mouth ulcers as a side effect. Common examples are alendronate[11] (a bisphosphonate, commonly prescribed for osteoporosis), cytotoxic drugs (e.g. methotrexate, i.e. chemotherapy), non-steroidal anti-inflammatory drugs, nicorandil[12] (may be prescribed for angina) and propylthiouracil (e.g. used for hyperthyroidism). Some recreational drugs can cause ulceration, e.g. cocaine.[13]
### Malignancy[edit]
Advanced oral cancer (T4 N2 M0, stage 4). Note rolled margins of central ulcer and surrounding areas of premalignant change. The patient died two months after subsequent partial glossectomy (removal of part of the tongue)
Main article: Oral cancer
Rarely, a persistent, non-healing mouth ulcer may be a cancerous lesion. Malignancies in the mouth are usually carcinomas, but lymphomas, sarcomas and others may also be possible. Either the tumor arises in the mouth, or it may grow to involve the mouth, e.g. from the maxillary sinus, salivary glands, nasal cavity or peri-oral skin. The most common type of oral cancer is squamous cell carcinoma. The main risk factors are long-term smoking and alcohol consumption (particularly when combined) and betel use.
Common sites of oral cancer are the lower lip, the floor of the mouth, and the sides, underside of the tongue and mandibular alveolar ridge, but it is possible to have a tumor anywhere in the mouth. Appearances vary greatly, but a typical malignant ulcer would be a persistent, expanding lesion that is totally red (erythroplasia) or speckled red and white (erythroleukoplakia). Malignant lesions also typically feel indurated (hardened) and attached to adjacent structures, with "rolled" margins or a punched out appearance and bleeds easily on gentle manipulation.[14] If someone has an unexplained mouth ulcer persisting for more than 3 weeks this may indicate a need for a referral from the GDP or GP to hospital to exclude oral cancer.[15]
### Vesiculobullous diseases[edit]
Main article: Vesiculobullous disease
Due to various factors (saliva, relative thinness of oromucosa, trauma from teeth, chewing, etc.), vesicles and bullae which form on the mucous membranes of the oral cavity tend to be fragile and quickly break down to leave ulcers.
Some of the viral infections mentioned above are also classified as vesiculobullous diseases. Other example vesiculobullous diseases include pemphigus vulgaris, mucous membrane pemphigoid, bullous pemphigoid, dermatitis herpetiformis, linear IgA disease, and epidermolysis bullosa.[16]:1,22
### Allergy[edit]
Main article: Stomatitis § Allergic contact stomatitis
Rarely, allergic reactions of the mouth and lips may manifest as erosions; however, such reactions usually do not produce frank ulceration. An example of one common allergen is Balsam of Peru. If individuals allergic to this substance have oral exposure they may experience stomatitis and cheilitis (inflammation, rash, or painful erosion of the lips, oropharyngeal mucosa, or angles of their mouth).[17][18][19][20] Balsam of Peru is used in foods and drinks for flavoring, in perfumes and toiletries for fragrance, and in medicine and pharmaceutical items for healing properties.[17][18][19]
### Other causes[edit]
A wide range of other diseases may cause mouth ulcers. Hematological causes include anemia, hematinic deficiencies, neutropenia, hypereosinophilic syndrome, leukemia, myelodysplastic syndromes, other white cell dyscrasias, and gammopathies. Gastrointestinal causes include celiac disease, Crohn's disease (orofacial granulomatosis), and ulcerative colitis. Dermatological causes include chronic ulcerative stomatitis, erythema multiforme (Stevens-Johnson syndrome), angina bullosa haemorrhagica and lichen planus. Other examples of systemic disease capable of causing mouth ulcers include lupus erythematosus, Sweet syndrome, reactive arthritis, Behçet syndrome, granulomatosis with polyangiitis, periarteritis nodosa, giant cell arteritis, diabetes, glucagonoma, sarcoidosis and periodic fever, aphthous stomatitis, pharyngitis and adenitis.[5]
The conditions eosinophilic ulcer and necrotizing sialometaplasia may present as oral ulceration.
Macroglossia, an abnormally large tongue, can be associated with ulceration if the tongue protrudes constantly from the mouth.[6] Caliber persistent artery describes a common vascular anomaly where a main arterial branch extends into superficial submucosal tissues without a reduction of diameter. This commonly occurs in elderly people on the lip and may be associated with ulceration.[6]
## Pathophysiology[edit]
The exact pathogenesis is dependent upon the cause. Ulcers and erosions can be the result of a spectrum of conditions including those causing auto-immune epithelial damage, damage because of an immune defect (e.g., HIV, leukemia, infections e.g. herpes viruses) or nutritional disorders (e.g., vitamin deficiencies). Simple mechanisms which predispose the mouth to trauma and ulceration are xerostomia (dry mouth – as saliva usually lubricates the mucous membrane and controls bacterial levels) and epithelial atrophy (thinning, e.g., after radiotherapy), making the lining more fragile and easily breached.[21]:7 Stomatitis is a general term meaning inflammation within the mouth, and often may be associated with ulceration.[22]
Pathologically, the mouth represents a transition between the gastrointestinal tract and the skin, meaning that many gastrointestinal and cutaneous conditions can involve the mouth. Some conditions usually associated with the whole gastrointestinal tract may present only in the mouth, e.g., orofacial granulomatosis/oral Crohn's disease.[23]
Similarly, cutaneous (skin) conditions can also involve the mouth and sometimes only the mouth, sparing the skin. The different environmental conditions (saliva, thinner mucosa, trauma from teeth and food), mean that some cutaneous disorders which produce characteristic lesions on the skin produce only non specific lesions in the mouth.[24] The vesicles and bullae of blistering mucocutaneous disorders progress quickly to ulceration in the mouth, because of moisture and trauma from food and teeth. The high bacterial load in the mouth means that ulcers may become secondarily infected. Cytotoxic drugs administered during chemotherapy target cells with fast turnovers such as malignant cells. However, the epithelia of the mouth also has a high turnover rate and makes oral ulceration (mucositis) a common side effect of chemotherapy.[citation needed]
Erosions, which involve the epithelial layer, are red in appearance since the underlying lamina propria shows through. When the full thickness of the epithelium is penetrated (ulceration), the lesion becomes covered with a fibrinous exudate and takes on a yellow-grey color. Because an ulcer is a breach of the normal lining, when seen in cross section, the lesion is a crater. A "halo" may be present, which is a reddening of the surrounding mucosa and is caused by inflammation. There may also be edema (swelling) around the ulcer. Chronic trauma may produce an ulcer with a keratotic (white, thickened mucosa) margin.[5] Malignant lesions may ulcerate either because the tumor infiltrates the mucosa from adjacent tissues, or because the lesion originates within the mucosa itself, and the disorganized growth leads to a break in the normal architecture of the lining tissues. Repeat episodes of mouth ulcers can be indicative of an immunodeficiency, signaling low levels of immunoglobulin in the oral mucous membranes. Chemotherapy, HIV, and mononucleosis are all causes of immunodeficiency/immunosuppression with which oral ulcers may become a common manifestation. Autoimmunity is also a cause of oral ulceration. Mucous membrane pemphigoid, an autoimmune reaction to the epithelial basement membrane, causes desquamation/ulceration of the oral mucosa. Numerous aphthous ulcers could be indicative of an inflammatory autoimmune disease called Behçet's disease. This can later involve skin lesions and uveitis in the eyes. Vitamin C deficiency may lead to scurvy which impairs wound healing, which can contribute to ulcer formation.[9] For a detailed discussion of the pathophysiology of aphthous stomatitis, see Aphthous stomatitis#Causes.
## Diagnostic approach[edit]
Diagnosis of mouth ulcers usually consists of a medical history followed by an oral examination as well as examination of any other involved area. The following details may be pertinent: The duration that the lesion has been present, the location, the number of ulcers, the size, the color and whether it is hard to touch, bleeds or has a rolled edge. As a general rule, a mouth ulcer that does not heal within 2 or 3 weeks should be examined by a health care professional who is able to rule out oral cancer (e.g. a dentist, oral physician, oral surgeon, or maxillofacial surgeon).[1][25] If there have been previous ulcers that have healed, then this again makes cancer unlikely.
An ulcer that keeps forming on the same site and then healing may be caused by a nearby sharp surface, and ulcers that heal and then recur at different sites are likely to be RAS. Malignant ulcers are likely to be single in number, and conversely, multiple ulcers are very unlikely to be oral cancer. The size of the ulcers may be helpful in distinguishing the types of RAS, as can the location (minor RAS mainly occurs on non-keratinizing mucosa, major RAS occurs anywhere in the mouth or oropharynx). Induration, contact bleeding and rolled margins are features of a malignant ulcer. There may be nearby causative factor, e.g. a broken tooth with a sharp edge that is traumatizing the tissues. Otherwise, the person may be asked about problems elsewhere, e.g. ulceration of the genital mucous membranes,[26] eye lesions or digestive problems, swollen glands in neck (lymphadenopathy) or a general unwell feeling.[citation needed]
The diagnosis comes mostly from the history and examination, but the following special investigations may be involved: blood tests (vitamin deficiency, anemia, leukemia, Epstein-Barr virus, HIV infection, diabetes) microbiological swabs (infection), or urinalysis (diabetes). A biopsy (minor procedure to cut out a small sample of the ulcer to look at under a microscope) with or without immunofluorescence may be required, to rule out cancer, but also if a systemic disease is suspected.[5] Ulcers caused by local trauma are painful to touch and sore. They usually have an irregular border with erythematous margins and the base is yellow. As healing progresses, a keratotic (thickened, white mucosa) halo may occur.[21]:52
## Treatment[edit]
Treatment is cause-related, but also symptomatic if the underlying cause is unknown or not correctable. It is also important to note that most ulcers will heal completely without any intervention. Treatment can range from simply smoothing or removing a local cause of trauma, to address underlying factors such as dry mouth or substituting a problem medication. Maintaining good oral hygiene and use of an antiseptic mouthwash or spray (e.g. chlorhexidine) can prevent secondary infection and therefore hasten healing. A topical analgesic (e.g. benzydamine mouthwash) may reduce pain. Topical (gels, creams or inhalers) or systemic steroids may be used to reduce inflammation. An antifungal drug may be used to prevent oral candidiasis developing in those who use prolonged steroids.[5] People with mouth ulcers may prefer to avoid hot or spicy foods, which can increase the pain.[1] Self-inflicted ulceration can be difficult to manage, and psychiatric input may be required in some people.[21]:53 For recurrent ulcers, vitamin B12 has been shown to be effective.[27]
## Epidemiology[edit]
Oral ulceration is a common reason for people to seek medical or dental advice.[21]:52 A breach of the oral mucosa probably affects most people at various times during life. For a discussion of the epidemiology of aphthous stomatitis, see the epidemiology of aphthous stomatitis.
## References[edit]
1. ^ a b c Vorvick LJ, Zieve D. "Mouth ulcers on MedlinePlus". A.D.A.M., Inc. Retrieved 27 December 2012.
2. ^ "Ulcer Origin". dictionary.com. Retrieved 19 July 2015.
3. ^ "Ulcer on Merriam-Webster medical dictionary". Merriam-Webster, Inc. Retrieved 27 December 2012.
4. ^ a b c d Loevy, Manfred Strassburg, Gerdt Knolle; translated by Hannelore Taschini (1993). Diseases of the Oral Mucosa : A Colour Atlas (2nd ed.). Chicago: Quintessence Pub. Co. p. 32. ISBN 978-0-86715-210-4.
5. ^ a b c d e f g h i Scully, Crispian (2008). "Chapter 14: Soreness and ulcers". Oral and maxillofacial medicine : the basis of diagnosis and treatment (2nd ed.). Edinburgh: Churchill Livingstone. pp. 131–39. ISBN 978-0-443-06818-8.
6. ^ a b c d e f g BW Neville; DD Damm; CM Allen; JE Bouquot (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 253–84. ISBN 978-0-7216-9003-2.
7. ^ Li, J; Zhang, YY; Wang, NN; Bhandari, R; Liu, QQ (April 2016). "Riga-Fede disease in a child". Clinical and Experimental Dermatology. 41 (3): 285–86. doi:10.1111/ced.12728. PMID 26307375. S2CID 204986006.
8. ^ Toon MH, Maybauer DM, Arceneaux LL, Fraser JF, Meyer W, Runge A, Maybauer MO (2011). "Children with burn injuries-assessment of trauma, neglect, violence and abuse". Journal of Injury and Violence Research. 3 (2): 98–110. doi:10.5249/jivr.v3i2.91. PMC 3134932. PMID 21498973.
9. ^ a b Sapp, J. Phillip; Lewis Roy Eversole; George W. Wysocki (2004). Contemporary Oral and Maxillofacial Pathology. Mosby. ISBN 978-0-323-01723-7.[page needed]
10. ^ Rezk SA, Zhao X, Weiss LM (September 2018). "Epstein-Barr virus (EBV)-associated lymphoid proliferations, a 2018 update". Human Pathology. 79: 18–41. doi:10.1016/j.humpath.2018.05.020. PMID 29885408.
11. ^ Kharazmi M, Sjöqvist K, Warfvinge G (April 2012). "Oral ulcers, a little known adverse effect of alendronate: review of the literature". Journal of Oral and Maxillofacial Surgery. 70 (4): 830–36. doi:10.1016/j.joms.2011.03.046. PMID 21816532.
12. ^ Healy CM, Smyth Y, Flint SR (July 2004). "Persistent nicorandil induced oral ulceration". Heart. 90 (7): e38. doi:10.1136/hrt.2003.031831. PMC 1768343. PMID 15201264.
13. ^ Fazzi M, Vescovi P, Savi A, Manfredi M, Peracchia M (October 1999). "[The effects of drugs on the oral cavity]". Minerva Stomatologica. 48 (10): 485–92. PMID 10726452.
14. ^ James R. Hupp; Myron R. Tucker; Edward Ellis (2008). Contemporary oral and maxillofacial surgery (5th ed.). St. Louis, Mo.: Mosby Elsevier. p. 433. ISBN 978-0-323-04903-0.
15. ^ "BNF and BNFc are only available in the UK". NICE. Retrieved 11 December 2018.
16. ^ Regezi JA, Sciubba JJ, Jordan RK (2011). Oral pathology : clinical pathologic correlations (6th ed.). St. Louis, Mo.: Elsevier/Saunders. ISBN 978-1455702626.
17. ^ a b "Balsam of Peru contact allergy". Dermnetnz.org. 28 December 2013. Retrieved 5 March 2014.
18. ^ a b Gottfried Schmalz; Dorthe Arenholt Bindslev (2008). Biocompatibility of Dental Materials. Springer. ISBN 9783540777823. Retrieved 5 March 2014.
19. ^ a b Thomas P. Habif (2009). Clinical Dermatology. Elsevier Health Sciences. ISBN 978-0323080378. Retrieved 6 March 2014.
20. ^ Edward T. Bope; Rick D. Kellerman (2013). Conn's Current Therapy 2014: Expert Consult. Elsevier Health Sciences. ISBN 9780323225724. Retrieved 6 March 2014.
21. ^ a b c d Tyldesley, Anne Field, Lesley Longman in collaboration with William R. (2003). Tyldesley's Oral medicine (5th ed.). Oxford: Oxford University Press. pp. 7–8, 25, 35, 41, 43–44, 51–56. ISBN 978-0-19-263147-3.
22. ^ RA Cawson; EW Odell; S Porter (2002). Cawson's essentials of oral pathology and oral medicine (7. ed.). Edinburgh: Churchill Livingstone. pp. 178–91. ISBN 978-0-443-07106-5.
23. ^ Zbar AP, Ben-Horin S, Beer-Gabel M, Eliakim R (March 2012). "Oral Crohn's disease: is it a separable disease from orofacial granulomatosis? A review". Journal of Crohn's & Colitis. 6 (2): 135–42. doi:10.1016/j.crohns.2011.07.001. PMID 22325167.
24. ^ Glick, Martin S. Greenberg, Michael (2003). Burket's oral medicine diagnosis & treatment (10th ed.). Hamilton, Ont.: BC Decker. pp. 50–79. ISBN 978-1-55009-186-1.
25. ^ Scully C, Shotts R (15 July 2000). "ABC of oral health. Mouth ulcers and other causes of orofacial soreness and pain". BMJ (Clinical Research Ed.). 321 (7254): 162–65. doi:10.1136/bmj.321.7254.162. PMC 1118165. PMID 10894697.
26. ^ Keogan MT (April 2009). "Clinical Immunology Review Series: an approach to the patient with recurrent orogenital ulceration, including Behçet's syndrome". Clinical and Experimental Immunology. 156 (1): 1–11. doi:10.1111/j.1365-2249.2008.03857.x. PMC 2673735. PMID 19210521.
27. ^ Volkov, I.; Rudoy, I.; Freud, T.; Sardal, G.; Naimer, S.; Peleg, R.; Press, Y. (2009). "Effectiveness of Vitamin B12 in Treating Recurrent Aphthous Stomatitis: A Randomized, Double-Blind, Placebo-Controlled Trial". The Journal of the American Board of Family Medicine. 22 (1): 9–16. doi:10.3122/jabfm.2009.01.080113. PMID 19124628.
## External links[edit]
Classification
D
* ICD-10: K12
* ICD-9-CM: 528.9
* MeSH: D019226
* DiseasesDB: 22751
* SNOMED CT: 26284000
External resources
* MedlinePlus: 001448
* Learning materials related to Oral ulceration at Wikiversity
* Mouth ulcer at Curlie
* 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
|
Mouth ulcer
|
c0149745
| 26,022 |
wikipedia
|
https://en.wikipedia.org/wiki/Mouth_ulcer
| 2021-01-18T18:39:10 |
{"mesh": ["D019226"], "umls": ["C0149745"], "icd-9": ["528.9"], "icd-10": ["K12"], "wikidata": ["Q3245680"]}
|
A number sign (#) is used with this entry because of evidence that variation in the DYX1C1 gene (DNAAF4; 608706) may be the basis of the form of dyslexia that maps to chromosome 15q21.
Description
Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007).
### Genetic Heterogeneity of Susceptibility to Dyslexia
Additional dyslexia susceptibility loci include DYX2 (600202) on chromosome 6p22, DYX3 (604254) on chromosome 2p16-p15, DYX5 (606896) on chromosome 3p12-q13, DYX6 (606616) on chromosome 18p11.2, DYX8 (608995) on chromosome 1p36-p34, and DYX9 (300509) on chromosome Xq27.3.
See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.
Clinical Features
Shaywitz et al. (1992) challenged the view of dyslexia as a biologically based disorder distinct from other less specific reading problems. According to this view, reading ability was considered to follow a bimodal distribution, with dyslexia as the lower mode. Shaywitz et al. (1992) contended that reading ability follows a normal distribution, with dyslexia at the lower end of the continuum. They presented data they interpreted as supporting their hypothesis. The argument was reminiscent of that which surrounded the genetics of essential hypertension (145500) 30 years earlier.
Merzenich et al. (1996) and Tallal et al. (1996) described adaptive training exercises mounted as computer 'games' which demonstrated fundamental aspects of language-based learning impairment and suggested an approach to therapy. The work was based on evidence that language-based learning impairment (LLI) results from a basic deficit in processing rapidly changing sensory inputs. Specifically, LLI children commonly cannot identify fast elements embedded in ongoing speech that have durations in the range of a few tens of milliseconds, a critical time frame over which many phonetic contrasts are signaled. Normally, exposure to a specific language alters an infant's phonetic perceptions within the first months of life, leading to the setting of prototypic phonetic representations, the building blocks on which a child's native language develops. LLI is thought to represent a phonologic processing deficit. Merzenich et al. (1996) and Tallal et al. (1996) found that LLI children receiving extensive daily training over a period of weeks with listening exercises in which all speech was translated into a synthetic form showed improvement in their 'temporal processing' skills. From these studies, the authors concluded that there may be no fundamental defect in the learning machinery in most dyslexic children. Their conclusion suggests in turn that the physical differences and distributed functional response differences revealed in evoked potential and imaging studies of the brain of LLI individuals may be effects of the learning histories of these children. Furthermore, it may imply that inherited factors contributing to the origin of LLI may relate to the initiation of a scenario that embeds, through learning, a defective representation of speech phonetics, and does not necessarily mean that these children have irreversible defects in the molecular and cellular elements of the learning machinery of their brains.
Svensson et al. (2011) reported a large 6-generation Swedish family in which 16 adults and 6 children (35% of total family members) had dyslexia. Ten family members had an uncertain diagnosis, and thirty family members had normal reading skills. All family members showed normal educational achievement. Males were more often affected than females. Genomewide linkage analysis did not identify a candidate region, and previous linkage studies to various candidate loci were not replicated. The studies suggested that the transmission of dyslexia in this family was not due to a highly penetrant major gene, but Svensson et al. (2011) noted that the power may have been too small to confirm linkage to genes with small or moderate effects.
Other Features
Galaburda and Kemper (1978) described cytoarchitectonic abnormalities in the left cerebral hemisphere and posterior language area on the left in a 20-year-old man with severe reading disability and a family history of the same.
Pennington et al. (1987) found no increased frequency of left-handedness or of immune disorders in familial dyslexics.
Eden et al. (1996) identified a biologic marker for dyslexia: a striking difference in the brain activity of adults with developmental dyslexia compared to that of controls. The physiologic anomaly, revealed by functional magnetic resonance imaging (MRI), was elicited in probands by their viewing of moving dots. The findings revealed differences in the regional functional organization of the cortical visual system in dyslexia. Frith and Frith (1996) discussed the significance of the findings.
Learning to read requires an awareness that spoken words can be decomposed into the phonologic constituents that the alphabetic characters represent. Such phonologic awareness is characteristically lacking in dyslexic readers who, therefore, have difficulty mapping the alphabetic characters onto the spoken word. To find the location and extent of the functional disruption in neural systems that underlies this impairment, Shaywitz et al. (1998) used functional MRI to compare brain activation patterns in dyslexic and nonimpaired subjects as they performed tasks that made progressively greater demands on phonologic analysis. Brain activation patterns differed significantly between the groups, with dyslexic readers showing relative underactivation of posterior regions (Wernicke area, the angular gyrus, and striate cortex) and relative overactivation in an anterior region (inferior frontal gyrus). Based on these results, Shaywitz et al. (1998) concluded that the impairment in dyslexia is phonologic in nature and that the brain activation patterns may provide a neural signature for this impairment.
Research has suggested that a fundamental deficit in dyslexia is the inability to process sensory input that enters the nervous system rapidly and that deficits in processing rapid acoustic information are associated with impaired reading. Temple et al. (2000) used functional magnetic resonance imaging to identify the brain basis of rapid acoustic processing in normal readers and to discover the status of that response in dyslexic readers. Normal readers showed left prefrontal activity in response to rapidly changing, relative to slowly changing, nonlinguistic acoustic stimuli. Dyslexic readers showed no differential left frontal response. Two dyslexic readers participated in a remedial program and showed increased activity in the left prefrontal cortex after training. These results identified left prefrontal regions as normally being sensitive to rapid relative to slow acoustic stimulation, insensitive to the difference between such stimuli in dyslexic readers, and plastic enough in adulthood to develop such differential sensitivity after intensive training.
Temple et al. (2003) examined whether behavioral remediation ameliorates the dysfunction of neural mechanisms underlying phonologic processing in children with dyslexia. Functional MRI was performed on 20 children with dyslexia (aged 8 to 12 years) during phonologic processing before and after a remedial program focused on auditory processing and oral language training. Behaviorally, training improved oral language and reading performance. Physiologically, children with dyslexia showed increased activity in multiple brain areas. The results suggested that a partial remediation of language-processing deficits, resulting in improved reading, ameliorates disrupted function in brain regions associated with phonologic processing and produces additional compensatory activation in other brain areas.
Inheritance
Hallgren (1950) studied 116 families with dyslexia. Speech defects were associated in many instances, especially in males, and were probably determined by the same factor as dyslexia. Left-handedness and left-eyedness could not be shown to be associated. Genetic analysis suggested autosomal dominant inheritance. Zahalkova et al. (1972) concluded that dyslexia is inherited as an autosomal dominant with reduced penetrance in females. Finucci et al. (1976) studied the immediate family of 20 children with specific reading disability. Forty-five percent of 75 first-degree relatives were considered affected on the basis of a procedure that identified an adult who might have compensated for a disability manifested more clearly in childhood. They proposed heterogeneity in this disorder and were reluctant to espouse any single mode of inheritance.
From multiple regression analysis of data on 64 pairs of identical twins and 55 pairs of fraternal twins, DeFries et al. (1987) presented evidence for a significant genetic etiology.
In a review, Schumacher et al. (2007) stated that cumulative studies have found that a child with an affected parent has a 40 to 60% risk of developing dyslexia. In addition, there is an estimated 3 to 10-fold increase in the relative risk for dyslexia in a sib with an affected sib.
Mapping
### DYX1 on Chromosome 15q
Smith et al. (1983) studied linkage of autosomal dominant specific reading disability in 9 families and demonstrated a total lod score of 3.241 with chromosome 15 heteromorphisms. One family contributed 2.755 to the total and 2 others had negative lod scores; however, tests for linkage heterogeneity did not reach significance. Maximum lod scores were at theta = 0.0. Chromosome analysis was done by sequential Q-to-C banding. Further studies (Fain et al., 1985) reduced the lod score to values below 3.0. In Danish studies, Bisgaard et al. (1987) found negative lod scores for linkage of dyslexia and chromosome 15 heteromorphism. In a study of nine 3-generation families in which dyslexia appeared to be inherited as an autosomal dominant trait with a high degree of penetrance, Rabin et al. (1993) excluded linkage to proximal 15q in all families. The family that had previously provided most of the lod score for chromosome 15p in the study of Smith et al. (1983) was independently restudied and included in the 9 families. A screen of other regions of the genome revealed possible linkage to RH (111700). Two DNA markers, also localized to 1p36-p34, similarly yielded positive lod scores in all families (see 608995). Froster et al. (1993) described a family in which a t(1;2)(p22;q31) translocation cosegregated with retarded speech development and dyslexia.
Grigorenko et al. (1997) reported linkage for distinct components of dyslexia to chromosomes 6 and 15: the phonologic-awareness phenotype was mapped to 6p22-p21, and the single word-reading phenotype was assigned to 15q21. The single word-reading phenotype showed linkage to marker D15S143 with a lod score of 3.15 at theta = 0.0, under an autosomal dominant inheritance model. Schulte-Korne et al. (1998) studied linkage of another component of dyslexia, namely, spelling disability, in 7 multiplex German families. Twin studies had indicated that deficits in spelling are substantially heritable and that the heritability of spelling deficits is higher than the heritability of reading deficits (Stevenson et al., 1987; DeFries et al., 1991). The results of Schulte-Korne et al. (1998) confirmed linkage between 15q21 markers and dyslexia. The results did not support a strong effect by a putative chromosome 6 dyslexia gene on the phenotype of spelling disability. The gene on chromosome 15 seems to be relevant for both spelling and word reading. Spelling and reading disability had been known to be strongly correlated.
Morris et al. (2000) used family-based association mapping to further pursue linkage between reading disability (RD) and the region on chromosome 15q. RD was defined as having an IQ greater than 85 and being at least 2.5 years behind chronological age in reading. A significant association was detected between RD and a 3-marker haplotype (D15S994/D15S214/D15S146: P and empirical P less than 0.001) in 101 parent-proband trios, as well as in a second-stage sample of 77 additional trios (P = 0.009, empirical P = 0.006). The authors concluded that there may be 1 or more genes contributing to RD in the vicinity of D15S146 and D15S994, and showed the utility of association analysis in mapping susceptibility loci for complex disorders.
To confirm linkage of continuous measures of (1) accuracy and efficiency of phonologic decoding, and (2) accuracy of single word reading, to regions on chromosomes 2p, 6p, 15p, and 18p, Chapman et al. (2004) studied 111 families, identified through a child with reading difficulties, with a total of 898 members. Evidence for linkage of single word reading to chromosome 15q was found with a maximum single marker perimetric lod score of 2.34 located 3 cM from D15S143. Multipoint analysis localized the putative susceptibility gene to an interval between markers GATA50C03 and D15S143.
In a sample of 121 Italian parent-offspring families, Marino et al. (2004) used a transmission/disequilibrium approach to confirm previous findings of an involvement of the 15q15-qter region in developmental dyslexia.
Taipale et al. (2003) characterized a gene, DYX1C1 (608706), near the DYX1 locus in 15q21 that was disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia in a family described by Nopola-Hemmi et al. (2000). They found 2 sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G-A; 608706.0001) and the other a transversion (1249G-T; 608706.0002) introducing a premature stop codon and truncating the predicted protein by 4 amino acids.
Using quantitative transmission disequilibrium test analysis, Meng et al. (2005) found no association between the 2 polymorphisms reported by Taipale et al. (2003) in the DYX1C1 gene and 150 nuclear families with dyslexia from Colorado.
### DYX4 on Chromosome 6q
Using a qualitative phonologic coding dyslexia phenotype to categorize 96 families with dyslexia, Petryshen et al. (2001) found evidence for a susceptibility locus, termed DYX4, on chromosome 6q11.2-q12. Two-point parametric analysis yielded maximum lod scores ranging from 2.4 to 2.8 across an 11-cM region. Analysis of phonologic coding and spelling yielded peak lod scores of 2.1 and 3.3, respectively, under 2 degrees of freedom, at marker D6S965.
### DYX7 on Chromosome 11p
Using model-free linkage analysis to study 100 families with dyslexia, Hsiung et al. (2004) found evidence for linkage to the DRD4 (126452) exon 3 repeat on chromosome 11p15.5 (2-point lod score of 2.27). Evidence for linkage was also found to HRAS (190020), located just proximal to DRD4 (2-point lod score of 2.68). The locus was termed DYX7.
### Possible Locus on Chromosome 7q32-q33
Kaminen et al. (2003) performed a genomewide scan in 11 Finnish families containing 38 patients with dyslexia. A novel locus at chromosome 7q32 close to the FOXP2 gene (605317) was suggested by a nonparametric linkage score of 2.77. The authors noted that mutation in the FOXP2 gene had previously been found to cause a severe speech and language disorder (SPCH1; 602081) with some overlap in language deficits to dyslexia. They therefore screened the FOXP2 gene in 6 of the dyslexic patients, but identified no mutations.
By fine mapping studies of the 7q32 region in the original Finnish families reported by Kaminen et al. (2003), Matsson et al. (2011) refined the candidate region to a 0.3-Mb region on chromosome 7q31-q34 (maximum nonparametric lod score of 2.4). Similar mapping studies on 251 German dyslexic families did not yield definitive results for this region. Association studies were then performed on the German families, the original Finnish families, and an extended group of Finnish families including 153 additional dyslexic individuals. A haplotype spanning intron 1 to 3 of the DGKI gene (604072) showed a moderate association with dyslexia in the transmission disequilibrium test (p = 0.04) in the Finnish families. This haplotype overlapped on 2 markers with a significantly associated haplotype (p = 0.00093) from the German sample. The haplotype in the German sample spanned introns 5 to 8 of the DGKI gene and the association was borderline significant after Bonferroni correction (p = 0.054).
History
Rosenberger (1992) provided a brief historical overview of dyslexia.
Neuro \- Dyslexia \- Speech defects 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
|
DYSLEXIA, SUSCEPTIBILITY TO, 1
|
c1851969
| 26,023 |
omim
|
https://www.omim.org/entry/127700
| 2019-09-22T16:42:04 |
{"omim": ["127700"], "synonyms": ["Alternative titles", "WORD-BLINDNESS, CONGENITAL", "READING DISABILITY, SPECIFIC, 1"]}
|
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
## Epidemiology
SRS has been described in 18 individuals to date. Its prevalence is unknown.
## Clinical description
Features of SRS include a typical facial gestalt characterized by hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males with SRS.
## Etiology
Etiology is unknown.
## Genetic counseling
Transmission is autosomal dominant with variable expressivity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Schilbach-Rott syndrome
|
c1834038
| 26,024 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2353
| 2021-01-23T18:33:17 |
{"gard": ["2930"], "mesh": ["C563509"], "omim": ["164220"], "umls": ["C1834038"], "icd-10": ["Q87.8"], "synonyms": ["BRSS", "Hypotelorism-cleft palate-hypospadias syndrome"]}
|
Lysosomal storage disease
Maroteaux–Lamy syndrome
Other namesMucopolysaccharidosis type VI,[1] MPS VI, or Polydystrophic dwarfism
A 16-year old boy with rapidly progressing MPS-VI, showing characteristic facial features and spinal deformities
SpecialtyEndocrinology
SymptomsVariable. May include: Macrocephaly, Hydrocephalus, Coarse facial features, Heart valve disease, Enlarged liver and spleen, Umbilical hernia[2]
Usual onsetPatients are affected at birth; symptoms usually appear during early childhood
DurationLifelong
CausesMutations in the ASRB gene
Differential diagnosisOther mucopolysaccharidosis disorders
PrognosisReduced life expectancy
Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme ASRB (arylsulfatase B).[3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 Society and culture
* 9 See also
* 10 References
* 11 External links
## Signs and symptoms[edit]
Corneal clouding visible in the eye of a 30-year-old male with MPS VI
Dermatan sulfate is one of the GAGs that builds up in the tissues of people with MPS-VI
Unlike other MPS diseases, children with Maroteaux–Lamy syndrome usually have normal intelligence.[2] They share many of the physical symptoms found in Hurler syndrome. Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.[citation needed]
Signs are revealed early in the affected child's life, with one of the first symptoms often being a significantly prolonged age of learning how to walk. Growth begins normally, but children usually stop growing by age 8. By age 10, children often develop a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes, particularly in the pelvis, are progressive and limit movement. Many children also have umbilical hernia or inguinal hernias. Nearly all children have some form of heart disease, usually involving the heart valves.[4]
## Genetics[edit]
This disorder is inherited in an autosomal recessive pattern. People with two working copies of the gene are unaffected. People with one working copy are genetic carriers of Maroteaux-Lamy Syndrome. They have no symptoms but may pass down the defective gene to their children. People with two defective copies will suffer from MPS-VI.[5]
## Diagnosis[edit]
A urinalysis will show elevated levels of dermatan sulfate in the urine. A blood sample may be taken to assess the level of ASRB activity. Dermal fibroblast cells may also be examined for ASRB activity. Molecular genetic testing can give information about the specific mutation causing MPS-VI, but it is only available at specialized laboratories.[5]
## Treatment[edit]
The treatment of Maroteaux-Lamy syndrome is symptomatic and individually tailored. A variety of specialists may be needed. In 2005, the FDA approved the orphan drug galsulfase (Naglazyme) for the treatment of Maroteaux-Lamy syndrome. Galsulfase is an enzyme replacement therapy (ERT) in which the missing ASRB enzyme is replaced with a recombinant version.[citation needed]
In addition to ERT, various procedures can alleviate the symptoms of MPS-VI. Surgery may be necessary to treat abnormalities such as carpal tunnel syndrome, skeletal malformations, spinal cord compression, hip degeneration, and hernias. Some patients may need heart valve replacement. It may be necessary to remove the tonsils and/or adenoids. Severe tracheomalacia may require surgery. Physical therapy and exercise may improve joint stiffness.[citation needed]
Hydrocephalus may be treated by the insertion of a shunt to drain excess cerebrospinal fluid. A corneal transplantation can be performed for individuals with severe corneal clouding. A myringotomy, in which a small incision is made in the eardrum, may be helpful for patients with fluid accumulation in the ears. Hearing aids may be useful, and speech therapy may help children with hearing loss communicate more effectively.[citation needed]
Certain medications can be used to treat heart abnormalities, asthma-like episodes, and chronic infections associated with MPS-VI. Anti-inflammatory medications may be of benefit. Respiratory insufficiency may require treatment with supplemental oxygen. Aggressive management of airway secretions is necessary as well. Sleep apnea may be treated with a CPAP or BPAP device.[5]
## Prognosis[edit]
A slowly-progressing female patient in her 20s, showing few physical abnormalities
The life expectancy of individuals with MPS VI varies depending on the severity of symptoms. Without treatment, some individuals may survive through late childhood or early adolescence. People with milder forms of the disorder usually live into adulthood, although they may have reduced life expectancy. Heart disease and airway obstruction are major causes of death in people with Maroteaux-Lamy syndrome.[2]
## Epidemiology[edit]
Males and females are affected equally.[5] Studies have shown a birth prevalence between 1 in 43,261 and 1 in 1,505,160 live births. These numbers are likely an underestimate of the true number of cases, because newborn screening for MPS-VI is not widely available. Although studies have not revealed an ethnic predisposition, certain groups with a high degree of consanguinity have a higher prevalence of MPS-VI. For example, one study of a population of Turkish immigrants in Germany revealed that this group had a rate of 1 in 43,261; this was approximately ten times higher than the rate of MPS-VI in non-Turkish Germans. In different populations worldwide, MPS-VI made up between 2 and 18.5% of all MPS disorders.[6]
## History[edit]
It is named after Pierre Maroteaux (1926–2019) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians.[7][8]
Isabel Bueso in 2019
## Society and culture[edit]
Keenan Cahill is a YouTuber with Maroteaux-Lamy syndrome.[9]
Isabel Bueso, a Guatemalan woman with Maroteaux-Lamy syndrome who has been receiving treatment at UCSF Benioff Children's Hospital, was at risk of deportation from the United States after the Trump Administration ended the deferred action program in August 2019.[10] In December 2019, she was granted another deferral of two years.[11]
## See also[edit]
* Hurler Syndrome (MPS I)
* Hunter Syndrome (MPS II)
* Sanfilippo Syndrome (MPS III)
* Morquio Syndrome (MPS IV)
## 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. ^ a b c "Mucopolysaccharidosis type VI". United States National Library of Medicine. 11 June 2019. Retrieved 17 June 2019.
3. ^ Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L (July 2008). "Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene". Mol. Genet. Metab. 94 (3): 305–12. doi:10.1016/j.ymgme.2008.02.012. PMID 18406185.
4. ^ "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 13 May 2019. Retrieved 17 June 2019.
5. ^ a b c d Giugliani, Roberto (2017). "Maroteaux Lamy Syndrome". National Organization for Rare Disorders. Retrieved 23 June 2019.
6. ^ Valayannopoulos, Vassili; Nicely, Helen; Harmatz, Paul; Turbeville, Sean (12 Apr 2010). "Mucopolysaccharidosis VI". Orphanet Journal of Rare Diseases. 5 (5): 5. doi:10.1186/1750-1172-5-5. PMC 2873242. PMID 20385007.
7. ^ synd/1619 at Who Named It?
8. ^ MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M (September 1963). "[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.]". Presse Med (in French). 71: 1849–52. PMID 14091597.
9. ^ Cary, Joan (5 May 2011). "Elmhurst teen a YouTube lip-syncing sensation". Chicago Tribune. Retrieved 23 June 2019.
10. ^ "Disabled Concord woman from Guatemala fights to stay in the U.S. - SFChronicle.com". www.sfchronicle.com. 2019-09-06. Retrieved 2019-09-06.
11. ^ "Critically-ill Concord woman slated for deportation will remain in the U.S." SFChronicle.com. 2019-12-09. Retrieved 2019-12-09.
## External links[edit]
Classification
D
* ICD-10: E76.2
* ICD-9-CM: 277.5
* OMIM: 253200
* MeSH: D009087
* DiseasesDB: ddb29179
External resources
* eMedicine: ped/1373
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Mucopolysaccharidoses)
Catabolism
* MPS I
* Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
* MPS II: Hunter Syndrome
* MPS III: Sanfilippo Syndrome
* MPS IV: Morquio Syndrome
* MPS VI: Maroteaux-Lamy Syndrome
* MPS VII: Sly Syndrome
* MPS IX: Hyaluronidase deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Maroteaux–Lamy syndrome
|
c0026709
| 26,025 |
wikipedia
|
https://en.wikipedia.org/wiki/Maroteaux%E2%80%93Lamy_syndrome
| 2021-01-18T18:48:41 |
{"gard": ["7095"], "mesh": ["D009087"], "umls": ["C0026709"], "icd-9": ["277.5"], "icd-10": ["E76.2"], "orphanet": ["583"], "wikidata": ["Q576109"]}
|
Exposure keratopathy
Other namesExposure keratitis
SpecialtyOphthalmology
SymptomsDryness, irritation, redness, eye pain and photophobia.
ComplicationsCorneal opacity
CausesLagophthalmos, CN VII paralysis
Diagnostic methodEye examination
PreventionPrevention of increased corneal exposure
Exposure keratopathy (also known as exposure keratitis) is medical condition affecting the cornea of eyes. It can lead to corneal ulceration and permanent loss of vision due to corneal opacity.
Normally, corneal surface is kept moist by blinking. during sleep, it is covered by lids. Increased corneal exposure to the air due to incomplete or inadequate eyelid closure cause increased evaporation of tear from corneal surface. Increased evaporation of tear cause instability of the tear film and dryness of corneal surface. This will lead to corneal epithelial damage. Both tear film and corneal epithelium play significant role in corneal protective mechanism.[1][2] The dryness and epithelial damage will allow micro organism to penetrate cornea and thus keratitis occurs.
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Causes
* 2.1 Lagophthalmos
* 2.2 Mechanical causes
* 2.3 Exophthalmos
* 2.4 Surgical
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 See also
* 7 Reference
## Signs and symptoms[edit]
Symptoms are similar to dry eye.[3] Patients may complain redness, irritation, ocular discomfort, burning, and foreign body sensation. Punctate epithelial defects, epithelial break down and stromal melting may be seen in corneal examination.[3] Corneal ulceration may develop due to bacterial invasion.
### Complications[edit]
Main complication of exposure keratopathy is permanent vision loss due to corneal opacification. Stromal melting may occasionally lead to corneal perforation.[3]
## Causes[edit]
Exposure keratopathy may occur due to mechanical eyelid abnormalities or neuro-paralytic corneal anesthesia. It may occur secondary to ocular surgeries like blepharoplasty, ptosis surgery etc. also.[3]
### Lagophthalmos[edit]
Main article: Lagophthalmos
Lagophthalmos, the inability to close the eyelids completely is the main cause of exposure keratopathy. Common cause of lagophthalmos is facial nerve (CN VII) palsy. Facial nerve function may affect in several conditions like cerebrovascular accident, head trauma, brain tumors, bell's palsy etc. Physiological inability to close the eyelids during sleep (nocturnal lagophthalmos) may also cause exposure keratopathy.[4]
### Mechanical causes[edit]
Chemical or thermal burns to eyelids or conjunctiva, ocular cicatricial pemphigoid, or symblepharon may cause incomplete or inadequate eyelid closure.
### Exophthalmos[edit]
Main article: Exophthalmos
Exophthalmos is the unilateral or bilateral bulging of the eye anteriorly out of the orbit causing increased exposure of cornea. It may be seen in many conditions like Graves' ophthalmopathy,[5] Orbital cellulitis, Orbital pseudotumor etc.[6]
### Surgical[edit]
A weak bell phenomenon may result in exposure keratopathy after ptosis surgery.[3] Postoperative lagophthalmos following blepharoplasty is another common cause of secondary exposure keratopathy.[7]
## Diagnosis[edit]
Fluorescein staining may be used to detect for epithelial defects, corneal infection or perforation of the cornea.[8] Tear break-up time and ocular protection index assessment can be done to reveal dry eye. Exophthalmometry can be used to measure degree of exophthalmos.
## Prevention[edit]
If increased corneal exposure is detected, several preventive measures can be done to prevent keratitis. Aritificial eye drops and eye ointments may be used to keep the eyes moist.[3] Since frequent use of eye drops with preservatives can promote inflammation, it is better to choose preservative free artificial tear drops and lubricating eye drops.[7] Bandage silicone hydrogel or scleral contact lens may be used to protect cornea.[3] But, risk of infection is more with bandage contact lens use.[7] Moisture goggles may also be used to protect cornea.[9] Temporary or permanent tarsorrhaphy may be indicated to treat lagophthalmos. Gold weights can be inserted into the upper eyelid to treat fasial nerve palsy.[9]
## Treatment[edit]
Treatment of the cause of the exposure is to be done first. For example, in proptosis due to thyroid eye disease, regulation of thyroid hormone levels may be advised. Symblepharon can be treated surgically. If necessary, management of proptosis may be done by orbital decompression.[3] Eye lid taping during sleep may alleviate mild cases of exposure keratopathy.[3]
If corneal ulcer is detected, it may be treated medically with antibiotics. If corneal perforation has occurred, immediate treatment measures should be done to restore the integrity of perforated cornea. Tissue adhesive glues, covering with conjunctival flap, bandage soft contact lens or therapeutic keratoplasty may be indicated to treat perforated corneal ulcer.
## See also[edit]
* Keratitis
* Dry eye syndrome
* Lagophthalmos
## Reference[edit]
1. ^ Zasloff, Michael (1 October 2012). "Defending the cornea with antibacterial fragments of keratin". The Journal of Clinical Investigation. 122 (10): 3471–3473. doi:10.1172/JCI65380. ISSN 0021-9738. PMC 3461931. PMID 23006322.
2. ^ McDermott, Alison M. (December 2013). "Antimicrobial Compounds in Tears". Experimental Eye Research. 117: 53–61. doi:10.1016/j.exer.2013.07.014. ISSN 0014-4835. PMC 3844110. PMID 23880529.
3. ^ a b c d e f g h i John F., Salmon (2020). "Cornea". Kanski's clinical ophthalmology : a systematic approach (9th ed.). Edinburgh: Elsevier. p. 242. ISBN 978-0-7020-7713-5. OCLC 1131846767.
4. ^ Tsai, Shawn H.; Yeh, Shu-I; Chen, Lee-Jen; Wu, Chien-Hsiu; Liao, Shu-Lang (1 June 2009). "Nocturnal Lagophthalmos". International Journal of Gerontology. 3 (2): 89–95. doi:10.1016/S1873-9598(09)70027-4. ISSN 1873-9598.
5. ^ Bahn, Rebecca S. (2010). "Graves' Ophthalmopathy". New England Journal of Medicine. 362 (8): 726–38. doi:10.1056/NEJMra0905750. PMC 3902010. PMID 20181974.
6. ^ Goldman, Lee (2012). Goldman's Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. pp. 2430. ISBN 978-1437727883.
7. ^ a b c "Exposure Keratopathy - EyeWiki". eyewiki.aao.org.
8. ^ Mathenge, Wanjiku (2018). "Emergency management: exposure keratopathy". Community Eye Health. 31 (103): 69. ISSN 0953-6833. PMC 6253321. PMID 30487689.
9. ^ a b "Lagophthalmos Evaluation and Treatment". American Academy of Ophthalmology. 1 April 2008.
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Exposure keratopathy
|
c0339295
| 26,026 |
wikipedia
|
https://en.wikipedia.org/wiki/Exposure_keratopathy
| 2021-01-18T19:02:32 |
{"umls": ["C0339295"], "wikidata": ["Q18558134"]}
|
Growing teratoma syndrome
Growing teratoma syndrome is a rare complication of teratoma that can occur when an immature ovarian germ cell teratoma is treated by chotherapy.[1]
## References[edit]
1. ^ "Ovarian Cancer". DynaMed.
## External links[edit]
Classification
D
External resources
* Orphanet: 314613
This article about a neoplasm 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
|
Growing teratoma syndrome
|
c3891714
| 26,027 |
wikipedia
|
https://en.wikipedia.org/wiki/Growing_teratoma_syndrome
| 2021-01-18T18:51:29 |
{"umls": ["C3891714"], "orphanet": ["314613"], "wikidata": ["Q25100781"]}
|
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 8 (NPHS8) is caused by homozygous mutation in the ARHGDIA gene (601925) on chromosome 17q25.
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Clinical Features
Gupta et al. (2013) reported 2 sisters, born of consanguineous Pakistani parents, with congenital nephrotic syndrome. Both girls presented in the first weeks of life with severe proteinuria, hypoalbuminemia, and generalized edema. Renal biopsy of 1 patient showed diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. Electron microscopy showed diffuse effacement of foot processes, thinning of the glomerular basement membrane, and swollen endothelial cells. One patient underwent renal transplant at age 2 years, but the graft never functioned due to venous thrombosis, and she remained on dialysis. The second child died at age 2 months without treatment.
Gee et al. (2013) reported 2 sibs, born of consanguineous Ashkenazi Jewish parents (family A1432), with early-onset steroid-resistant nephrotic syndrome. One child presented at age 2.4 years with end-stage renal disease and diffuse mesangial sclerosis on renal biopsy. The other sib presented at age 1 year with steroid-resistant nephrotic syndrome and developed end-stage renal disease by age 3. Both sibs had intellectual disability and one had sensorineural hearing loss. A third sib in this family reportedly developed nephrotic syndrome at age 1 and died at age 19 months, but no additional information was provided and no DNA was available for testing. Gee et al. (2013) also reported a Moroccan child, born of consanguineous parents, who presented at 14 days of age with nephrotic syndrome, which progressed to end-stage renal disease by age 6 weeks. This child had seizures and cortical blindness and died at age 6 months.
Inheritance
The transmission pattern of congenital nephrotic syndrome in the family reported by Gupta et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sisters, born of consanguineous Pakistani parents, with congenital nephrotic syndrome type 8, Gupta et al. (2013) identified a homozygous 3-bp in-frame deletion in the ARHGDIA gene (601925.0001). The mutation was found by whole-exome sequencing, confirmed by Sanger sequencing, and not found in multiple controls. In vitro functional studies and studies of patient fibroblasts showed that the mutation resulted in the hyperactivation of 3 Rho-GTPases due to loss of ARHGDIA function and caused impaired cell motility. The findings suggested that the mutation caused an imbalance in the active and inactive forms of Rho-GTPases, leading to derangements in the actin cytoskeleton within podocytes and subsequent nephrotic syndrome. Gupta et al. (2013) noted that Arhgdia-null mice also develop proteinuria and progressive renal failure.
By homozygosity mapping and exome sequencing in 2 sibs of Ashkenazi Jewish descent with early-onset steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis, Gee et al. (2013) identified a homozygous mutation in the ARHGDIA gene (G173V; 601925.0003). Screening of the ARHGDIA gene in 65 individuals with diffuse mesangial sclerosis and 350 individuals with steroid-resistant nephrotic syndrome identified a different homozygous mutation (R120X) in a Moroccan infant with congenital nephrotic syndrome. Both mutations were confirmed by Sanger sequencing and segregated with the disorder in the families. Gee et al. (2013) demonstrated that the mutations abrogated interaction with RHO GTPases and increased active GTP-bound RAC1 (602048) and CDC42 (116952), resulting in a migratory phenotypic change of podocytes (foot process effacement) and proteinuria. Knockdown of arhgdia in zebrafish recapitulated the nephrotic phenotype, which was partially rescued with RAC1 inhibitors.
Animal Model
Shibata et al. (2008) found that Arhgdia -/- mice developed progressive renal disease characterized by heavy albuminuria and podocyte damage.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural (in 1 Ashkenazi patient) Eyes \- Cortical blindness (in 1 Moroccan patient) GENITOURINARY Kidneys \- Nephrotic syndrome \- Renal failure, progressive \- Abnormal glomeruli seen on biopsy \- Diffuse mesangial sclerosis \- Hypercellularity \- Immature podocytes \- Foot process effacement \- Thinning of the glomerular basement membrane \- Swollen endothelial cells MUSCLE, SOFT TISSUES \- Edema NEUROLOGIC Central Nervous System \- Intellectual disability (in 1 Ashkenazi patient) \- Cortical blindness (in 1 Moroccan patient) \- Seizures (in 1 Moroccan patient) LABORATORY ABNORMALITIES \- Proteinuria \- Hypoalbuminemia MISCELLANEOUS \- Onset in first weeks of life \- Rapidly progressive \- Fatal if renal transplant is not performed MOLECULAR BASIS \- Caused by mutation in the Rho GDP-dissociation inhibitor alpha gene (ARHGDIA, 601925.0001 ) ▲ 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
|
NEPHROTIC SYNDROME, TYPE 8
|
c1868672
| 26,028 |
omim
|
https://www.omim.org/entry/615244
| 2019-09-22T15:52:45 |
{"doid": ["0080389"], "mesh": ["C536404"], "omim": ["615244"], "orphanet": ["656"]}
|
## Summary
### Clinical characteristics.
Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by: (1) primary immunodeficiency; and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifest as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T cells, absent lymph node germinal centers, and absent tissue plasma cells. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur. In the past the prognosis for affected individuals was poor, with 100% mortality in the first year of life if unrecognized and untreated with intravenous immunoglobulin (IVIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment there is a marked improvement in prognosis.
### Diagnosis/testing.
The diagnosis of VODI is established in a proband with the following clinical diagnostic criteria:
* Clinical evidence of primary immunodeficiency
* Hepatomegaly or evidence of hepatic failure in a proband or a first-degree relative
* Onset usually before age six months
* Family history consistent with autosomal recessive inheritance
Identification of biallelic pathogenic variants in SP110 on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.
### Management.
Treatment of manifestations: IVIG and Pneumocystis jirovecii prophylaxis as soon as the diagnosis of VODI is established; appropriate, prompt treatment of infections; consider hepatic transplantation, although rate of complications may be high; bone marrow transplantation may be efficacious with appropriate conditioning therapy.
Prevention of primary manifestations: IVIG and Pneumocystis jirovecii prophylaxis.
Surveillance: Regular monitoring of hepatic function, platelet count, and hemoglobin level; routine monitoring of serum and urine electrolytes as the syndrome of inappropriate anti-diuretic hormone (SIADH) may occur; measurement of immunoglobulin concentrations prior to IVIG infusions; broncho-alveolar lavage to diagnose Pneumocystis jirovecii infection; viral cultures or lung function studies as needed; cerebrospinal imaging to diagnose leukodystrophy when clinically indicated.
Agents/circumstances to avoid: Agents known to predispose to hepatic veno-occlusive disease (hVOD) including cyclophosphamide and senecio alkaloids/bush teas.
Evaluation of relatives at risk: If both pathogenic variants in the family are known, molecular genetic testing of sibs of a proband who are younger than age 12 months to allow for early diagnosis and treatment.
### Genetic counseling.
VODI is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes (carriers) and therefore carry one pathogenic variant. Heterozygotes are asymptomatic. 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 relatives and prenatal diagnosis for pregnancies at increased risk are possible if both pathogenic variants in a family are known.
## Diagnosis
### Suggestive Findings
Hepatic veno-occlusive disease with immunodeficiency (VODI) should be suspected in individuals with the following.
Clinical diagnostic criteria
* Clinical evidence of immunodeficiency with bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections
* Hepatomegaly or evidence of hepatic failure, not explained by other factors, in the affected individual or a first degree relative (hepatic veno-occlusive disease is usually present and pathognomonic but may not be found, or may have resolved)
* Onset usually before age six months
* Family history consistent with autosomal recessive inheritance
Laboratory features
* Low serum concentrations of IgA, IgM, and IgG
Note: Immunoglobulin levels are age specific and laboratory specific and thus should be compared against appropriate local reference ranges.
* Normal lymphocyte numbers and CD4 and CD8 percentages
* Normal lymphocyte proliferative responses to mitogens
* Low intracellular cytokine production
Radiographic features
* Hepatic ultrasonography. Features consistent with hepatic veno-occlusive disease (hVOD) may include hepatosplenomegaly, gallbladder wall thickening, increased portal vein diameter, reduced hepatic vein diameter, ascites, and re-canalization of the ligamentum teres.
* Doppler ultrasound examination. Features consistent with hVOD may include reduced portal venous flow, flow in the para-umbilical vein, and increased resistance in the hepatic artery.
Histopathologic features
* hVOD (also known as sinusoidal obstruction syndrome) may include fibrous concentric narrowing of zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis, and sinusoidal congestion (see Figure 1).
* Note: If hepatic biopsy is contraindicated, hepatic ultrasonography and Doppler ultrasonography may provide supportive evidence of hVOD.
#### Figure 1.
Hepatic biopsy showing vascular obliteration, perivenular fibrosis, zone 3 fibrosis and hepatocyte dropout from a girl who presented at age five months with hepatomegaly and ascites (Picro-Mallory stain 100x)
### Establishing the Diagnosis
The diagnosis of VODI is established in a proband with the above clinical diagnostic criteria. Identification of biallelic pathogenic variants in SP110 on molecular genetic testing establishes the diagnosis if clinical features are inconclusive (see Table 1).
Molecular testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
* Single-gene testing. Sequence analysis of SP110 is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
Targeted analysis for the c.642delC pathogenic variants can be performed first in individuals of Lebanese ancestry.
Sequence analysis of SP110 may be performed in a tiered approach beginning with exons 2, 4, 5 and 8 (reference sequence: LRG_109). Sequencing of the entire coding region of 19 exons and an alternatively spliced exon 15 in the Sp110c isoform is performed if neither or only one pathogenic variant is identified in exons 2, 4, 5 and 8.
* A multigene panel that includes SP110 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered if single-gene testing (and/or use of a multigene panel that includes SP110) fails to confirm a diagnosis in an individual with features of VODI. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Hepatic Veno-Occlusive Disease with Immunodeficiency
View in own window
Gene 1Test MethodProportion of Probands with Pathogenic Variants 2 Detectable by This Method
SP110Sequence analysis 313/13 (100%) 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
All pathogenic variants identified to date are in exons 2, 4, 5 and 8 with the most common being the c.642delC found in the Lebanese population [Roscioli et al 2006, Ruga et al 2006, Cliffe et al 2012, Wang et al 2012].
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that may be used can include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
No data on detection rate of gene-targeted deletion/duplication analysis are available
## Clinical Characteristics
### Clinical Description
Hepatic veno-occlusive disease with immunodeficiency (VODI) is a primary immunodeficiency associated with terminal hepatic lobular vascular occlusion and hepatic lobule zone 3 fibrosis. All children in the cohort from Sydney, Australia presented prior to age six months, the majority with sequelae of the immunodeficiency either alone or concurrently with features of hepatic veno-occlusive disease (hVOD) (see Table 2).
Immunodeficiency is characterized by severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T and B cells, absent lymph node germinal centers, and absent tissue plasma cells [Roscioli et al 2006]. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur.
Hepatic veno-occlusive disease (hVOD). Ninety percent of the children with VODI present ab initio either with hepatomegaly (83% with preceding infection) or hepatic failure (53% with preceding infection). Typically, an infant has been unwell for several weeks, has become tachypneic, is failing to thrive, is admitted with interstitial pneumonitis caused by Pneumocystis jirovecii, is found to be jaundiced with ascites, has hypogammaglobulinemia and thrombocytopenia, and has evidence of hVOD.
Neurologic. Overall, 30% of children with VODI had neurologic involvement; none of the individuals were reported to have veno-occlusive disease of the brain. Four individuals (sister of B II.1 and B II.2 [Table 3] and 3 unrelated children) had multiorgan failure associated with extensive cerebral necrosis on postmortem examination. A striking finding is the presence of cerebrospinal leukodystrophy in three individuals (20%) with VODI. Individual 5 had a leukodystrophy of unknown etiology and individual 6 developed this complication after a CMV-related gastroenteritis. In individual A II.1, the initial diagnosis of a cerebrovascular accident with a right-sided cerebral white matter lesion – presumed to be Toxoplasma or a porencephalic cyst – was revised as more consistent with cerebrospinal leukodystrophy. Individual B II.2 remained well on intravenous immunoglobulin (IVIG) and cotrimoxazole prophylaxis until age 18 years when she suddenly developed paraparesis and urinary retention associated with cerebral lesions. No infective cause or evidence of veno-occlusive disease was found on extensive investigation. There was partial response to high-dose IVIG and steroid therapy, suggesting an inflammatory etiology [MW Lin and M Wong, personal communication].
Other features. Infants and children with VODI do not have dysmorphic features. Thrombocytopenia is frequent at presentation but may improve with resolution of the hVOD. One child had the syndrome of inappropriate ADH secretion, presumably as a manifestation of his cerebral leukodystrophy.
Morbidity/mortality. VODI is associated with 100% mortality in the first year of life if unrecognized and untreated with IVIG or subcutaneous immunoglobulin (SCIG) replacement and Pneumocystis jirovecii prophylaxis, and a 90% mortality overall by the mid-teenage years [Roscioli et al 2006]. However, there have been only three deaths among eight recently ascertained affected individuals older than age one year, representing a markedly improved prognosis with early recognition and treatment [Cliffe et al 2012]. Should hVOD recovery occur, recurrence of hVOD appears to be prevented by continuation of IVIG and Pneumocystis jirovecii prophylaxis. However, there may be an ongoing risk for neurologic inflammatory complications (B II.2). One child (Individual A II.1, Table 3) died following recurrence of hVOD after bone marrow transplantation at age six years. Table 2 summarizes the clinical and immunologic features of the 20 individuals from Sydney with the clinical diagnosis of VODI (including the 11 individuals who were able to be investigated by molecular analysis confirming the presence of SP110 pathogenic variants) and eight newly ascertained individuals [Cliffe et al 2012].
### Table 2.
Clinical and Immunologic Features of Hepatic Veno-Occlusive Disease with Immunodeficiency
View in own window
Clinical FeaturesIndividuals from Sydney w/VODI 1CommentsNewly Ascertained Individuals w/VODI w/Novel Pathogenic Variants 2
Presenting <6 months20/20 (100%)7/8
Hepatic failure at initial presentation4/20 (20%)1/12 post-HSCT
3/12 no obvious precipitant0/8
Hepatomegaly at initial presentation9/20 (45%)3/6 P. jirovecii
2/6 hepatomegaly w/out SOS6/8
1/8 enterovirus & disseminated cytomegalovirus 3
P. jirovecii infection12/20 (60%)7/12 proven
5/12 suspected1/8 suspected 3
1/8 proven 4
Mucocutaneous candidiasis2/20 (10%)1/8
Other features1/20 (5%)By age 19 years1/8 lung fibrosis 5
Death19/20 (95%)3/8 (38%)
Recovery from initial SOS4/20 (20%)1 completely well
1 chronic liver disease requiring hepatic transplantation
1 SOS post-HSCT
1 developmental disability, chronic aspiration4/8
Neurologic abnormalities6/20 (35%)4/7 cerebral infarction
2/7 leukodystrophy1/8 leukodystrophy
Panhypogammaglobulinemia19/19 (100%)1/18 loss of normal immunoglobulins at age 4 mos5/5 tested
1/5 low normal levels of IgA & IgM after commencing IVIG
Normal number of lymphocytes10/11 (92%)8/8
Normal NK cells12/12 (100%)3/3 3, 4, 5
Decreased intracytoplasmic IFN-γ, IL-2, IL-4, IL-104/5 (80%)Low levels at 4 hrs, normal/increased levels at 48 hrs1/1 3
Decreased number of memory T & B cells3/4 (75%)2/3 6
HSCT = hematopoietic stem cell transplantation
IVIG = intravenous immunoglobulin
SOS = sinusoidal obstruction syndrome
1\.
Table modified from Roscioli et al [2006]
2\.
Cliffe et al [2012]
3\.
See Table 3, Affected individual 1
4\.
See Table 3, Affected individual 4
5\.
See Table 3, Affected individual 2
6\.
Memory T and B cells were present in affected individual 1 (see Table 3)
Table 3 outlines clinical features in individuals with identified homozygous SP110 pathogenic variants [Roscioli et al 2006, Cliffe et al 2012, Wang et al 2012, Ganaiem et al 2013].
### Table 3.
Clinical Features of Individuals Homozygous for SP110 Pathogenic Variants
View in own window
Affected IndividualSP110 (LRG_109) Pathogenic VariantPresentationSerum IgsMemory T/B CellsT Cell CytokinesClinical FindingsDeceased
A II.1 1
Lebanesec.642delC in exon 5Age 5 mos: immunodeficiency, thrombocytopenia, SOS↓N/AN/ALeft hemiparesis 2, recurrent hVOD w/GVHD post-HSCTYes
B II.1 1
LebaneseAge 7 mos: immunodeficiency↓N/AN/AChronic lung disease secondary to recurrent aspirationYes (age 19 yrs)
B II.2 1
LebaneseAge 6 mos: hepatosplenomegaly, ascites, SOS↓↓↓Well until 18 yrs (developed paraparesis, urinary retention, cerebral lesions)No
C II.1 1
LebaneseAge 4 mos: hepatosplenomegaly, ascites, SOS, thrombocytopenia, mucocutaneous candidiasis↓↓↓Chronic liver disease, portal hypertension post-hepatic transplantationYes
D II.1 1
LebaneseAge 3 mos: hepatosplenomegaly, ascites, SOS↓ 3↓↓Hemophagocytic syndrome post-hepatic transplantationYes
16 4
Lebanesec.642delC in exon 5Age 3 mos: hepatosplenomegaly, ascites, SOS↓↓↓Pulmonary hemorrhage, multiorgan failureYes
5 4
Lebanesec.642delC in exon 5Age 3 mos, respiratory distress↓↓N/ASIADH, idiopathic cerebrospinal leukodystrophyNo
6 4
Lebanesec.642delC in exon 5Age 3 mos: chronic cough, diarrhea
Age 8 yrs: hepatosplenomegaly
Age ≥12 yrs: hVOD↓N/AN/AIdiopathic left frontal lobe calcified cyst, epilepsy, CMV colitis, post-diarrheal encephalomyelitis w/lower limb paralysis, cerebrospinal leukodystrophy, esophageal candidiasis, duodenal lymphocytic infiltrateNo
7 4
Lebanesec.642delC presumed 5Age 2 mos: chronic diarrhea, failure to thrive, middle ear and respiratory infections, hepatosplenomegaly, thrombocytopeniaN/AN/AN/AMicrocephaly, hepatic biopsy consistent w/SOSYes, 11 mos from diarrhea leading to septic shock
8 4
Lebanesec.642delC presumed 5Age 5 mos: upper respiratory illness
Age 8 mos: chronic diarrhea, hepatomegaly, thrombocytopeniaN/AN/AN/AHepatic biopsy consistent w/SOSYes, 3.5 yrs from diarrhea leading to septic shock
9 4
Lebanesec.642delC presumed 5Age 2 mos: ascites, hepatomegaly, anemia, thrombocytopeniaN/AN/AN/AHepatic biopsy consistent w/SOSYes, 2.5 mos from otitis, diarrhea, pneumonia
E I.1 1
Lebanesec.40delC in exon 2Age 3 mos: immunodeficiency, thrombocytopenia, hepatosplenomegaly w/out definite evidence of SOS↓N/AN/AEnteroviral and P. jirovecii infectionYes
4 4
Hispanicc.78_79delinsAT (p.Ile27Leu) in exon 2Age 5 mos: hepatosplenomegaly, fever, respiratory distress, pancytopenia↓↓↓Stable & wellNo
1 4
Italianc.319_325dup GGTGCTT in exon 4Age 11 mos: hepatosplenomegaly, disseminated CMV, rotavirus gastroenteritis, vulvar abscesses, SOS↓ initially↓N/ARecovering from hVOD, wellNo
2 4
Italianc.667+1dup exon 5 splice siteAge 3 mos: hepatosplenomegaly, failure to thrive, respiratory distress/lung fibrosis, diarrhea↓↓N/AHepatic biopsy consistent w/sinusoidal dilatation, moderate central vein & perivenular subsinusoidal fibrosis; stable w/improvementNo
3 4
Palestinian Arabc.373del in exon 4Age 3 mos: diagnosis of VODI confirmed w/cascade testing prior to illness onset. No hepatomegaly or liver function abnormalitiesN/AN/AN/AStable & wellNo
Modified from Roscioli et al [2006]
CMV = cytomegalovirus
GVHD = graft-versus-host disease
HSCT = hematopoietic stem cell transplantation
hVOD = hepatic veno-occlusive disease
SOS = sinusoidal obstruction syndrome
SIADH = syndrome of inappropriate antidiuretic hormone secretion
Note: Although families A, B, and C are not known to be related, they are believed to have a common ancestor. Individuals included in the initial homozygosity mapping analysis: A II.1, B II.1, B II.2, C II.1, 16 (‘G’ in initial analysis), and 5 (‘J’ in initial analysis).
Affected individual designations are those used in the articles cited.
1\.
Roscioli et al [2006]
2\.
Secondary to cerebral white matter abnormality
3\.
IgA and IgM serum concentrations increased to lower limit of normal while on IVIG.
4\.
Cliffe et al [2012]
5\.
The pathogenic variant listed is a known familial variant. While sequence analysis was not performed on this affected individual, c.642delC is presumed to be the pathogenic variant based on the family history.
### Genotype-Phenotype Correlations
No significant difference in the clinical manifestations of VODI is observed between individuals with different pathogenic variants.
The one child with an out-of-frame duplication in exon 4 (Individual 1, Table 3) presented at age 11 months (later than average) with disseminated CMV infection, which has not been noted in other children with VODI. In addition, the numbers of memory T and B cells were normal and intracellular cytokine production was normal – findings not observed in other children with VODI.
### Penetrance
Penetrance for the combined B- and T-cell immunodeficiency has been 100% in individuals confirmed to have VODI caused by pathogenic variants in SP110. Likewise, hVOD has been described in all probands or their affected sibs.
Approximately 10% of children with VODI, ascertained at a young age because of an affected sib and treated early in the disease course with IVIG, may manifest immunodeficiency only at presentation.
### Nomenclature
Hepatic veno-occlusive disease alone was known previously as Jamaican bush tea disease due to a dietary and geographic association. This term is now superseded by hepatic veno-occlusive disease (hVOD) or sinusoidal obstruction syndrome (SOS), terms less limiting given the occurrence of hVOD worldwide and it being secondary to other precipitants. The combination of hVOD and a combined immunodeficiency is termed VODI.
### Prevalence
VODI was described originally in Australians of Lebanese origin by Mellis & Bale [1976]. Subsequently, the majority of children reported with VODI have been of Lebanese origin. The prevalence of VODI in the Lebanese population of Sydney, Australia has been calculated at one in 2,500 [Roscioli et al 2006]. Unpublished data from Australia and Lebanon suggest that VODI associated with the SP110 exon 5 pathogenic variant c.642delC is found not infrequently in families of Lebanese background, especially in association with consanguinity. This in turn suggests that the diagnosis has been missed in expatriate Lebanese communities.
The prevalence of VODI in children of non-Lebanese origin is unknown; however, the following reports suggest that the VODI phenotype is observed in other populations. Additional reports of VODI:
* A simplex case of VODI (i.e., a single occurrence in a family) with humoral and cellular immunodeficiency in the Spanish literature
* Two Italian children with VODI [Ruga et al 2006, Cliffe et al 2012]
* A Hispanic child with VODI from the United States [Cliffe et al 2012, Wang et al 2012]
## Differential Diagnosis
Although sinusoidal obstruction syndrome in association with severe combined immunodeficiency (SCID) was described in an individual reported by Washington et al [1993], and in one postmortem HIV cohort reported by Buckley & Hutchins [1995], the lack of a recognized and replicated association of immunodeficiency with hepatic veno-occlusive disease (hVOD) in other classes of immunodeficiency suggests that hVOD may be a primary feature of VODI rather than secondary to an immunodeficiency per se.
The primary differential diagnosis for hVOD alone would be environmental alkaloid or sinusoidal cell toxicity. However, hVOD has also been reported in association with alcoholic cirrhosis [Kishi et al 1999], ataxia-telangiectasia [Srisirirojanakorn et al 1999], osteopetrosis [Corbacioglu et al 2006] (see CLCN7-Related Osteopetrosis), and hypereosinophilic syndrome (OMIM 607685). HIV should also be considered in the differential diagnosis for the immune phenotype.
Previous case-control studies using single-nucleotide polymorphisms (SNPs) have also reported associations between hVOD and SNPs in the carbamoyl phosphate synthetase 1 (CPS1) (see Urea Cycle Disorders Overview), factor V Leiden (FVL), HFE (see HFE-Associated Hereditary Hemochromatosis), and glutathione S-transferase (GSTM1 and GSTT1) genes. Relative risks of 8.6 for the homozygous HFE Cys282Tyr allele and 4.12 for the GSTM1 null allele have been reported [Srivastava et al 2004, Kallianpur 2005, Kallianpur et al 2005]. No independent replication of these findings has been performed.
There has been no report of SP110 pathogenic variants in individuals described to have hVOD without immunodeficiency.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with hepatic veno-occlusive disease with immunodeficiency (VODI), the following evaluations are recommended:
* Assessment of immune function including serum immunoglobulin levels, T- and B-cell numbers and percentages, and T-cell proliferative response to mitogens
* More extensive immune testing for number of memory B and T cells and intracellular cytokine (IL2, IL4, IL6, and IFNγ) responses to stimulation, if available
* Complete blood count
* Assessment of hepatic function (including serum concentrations of aminotransferases, bilirubin, and albumin) and assessment for sequelae of portal hypertension (including anemia and thrombocytopenia)
* Consultation with a clinical geneticist and/or genetic counselor
A clotting profile and a hepatic Doppler ultrasound examination should be undertaken prior to consideration of hepatic biopsy for a histologic diagnosis of hepatic veno-occlusive disease (hVOD). Evidence of impaired clotting and/or portal hypertension contraindicates hepatic biopsy.
### Treatment of Manifestations
Hypogammaglobulinemia is treated via intravenous immunoglobulin (IVIG), which should commence at the diagnosis of VODI or in presymptomatic sibs confirmed to have homozygous SP110 pathogenic variants. An appropriate dose is 0.4 g/kg every four weeks adjusting the dose to maintain a trough IgG level greater than 6 g/L.
Pneumocystis jirovecii prophylaxis with cotrimoxazole pediatric suspension (5 mL = trimethoprim 40 mg and sulfamethoxazole 200 mg) should be ongoing in children with VODI who tolerate this medication. This may be administered as a single daily dose or as a single dose three days per week. The recommended dose is 5 mg trimethoprim per kg (0.625 mL/kg) or 150 mg/M2 (3.75 mL/M2).
Infections with specific agents should be treated with appropriate supportive care and antibacterials or antivirals.
Hepatic transplantation may be considered, but appears to have a high rate of complications in the VODI cohort studied to date (see Other).
Bone marrow transplantation. Ganaiem et al [2013] reported that this may be an efficacious treatment modality with appropriate conditioning therapy (see Other).
### Prevention of Primary Manifestations
Initiation of regular IVIG at the time of diagnosis to prevent infection related to severe hypogammaglobulinemia and cotrimoxazole prophylaxis to prevent Pneumocystis jirovecii infection is appropriate (see Treatment of Manifestations).
### Prevention of Secondary Complications
Some evidence suggests that treatment of immunodeficiency early in VODI may reduce the risk for development or recurrence of hVOD.
### Surveillance
The following are appropriate:
* Regular surveillance of hepatic function, platelet count, and hemoglobin level in children with VODI as hepatic failure and portal hypertension may occur
* Surveillance of serum and urine electrolytes as the syndrome of inappropriate anti-diuretic hormone (SIADH) may occur
* Measurement of immunoglobulin concentrations prior to IVIG infusions
* Broncho-alveolar lavage to diagnose Pneumocystis jirovecii infection; viral cultures or lung function studies as needed
* Cerebrospinal imaging to diagnose leukodystrophy when clinically indicated
### Agents/Circumstances to Avoid
Agents known to predispose to hVOD (e.g., cyclophosphamide and senecio alkaloids/bush teas) should be avoided.
### Evaluation of Relatives at Risk
It is appropriate to evaluate sibs of a proband who are younger than age 12 months in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures. The majority of children with VODI present before age six months; however, as one child presented at age 11 months, testing should be considered in sibs of a proband who are younger than age 12 months.
Evaluations include:
* Molecular genetic testing if the pathogenic variants in the family are known;
* Serum immunoglobulins, full blood count and liver function tests at birth and repeated at six months if the pathogenic variants in the family are not known.
Penetrance is complete (i.e., 100%) in the individuals with VODI described to date; thus, molecular genetic testing of healthy at-risk sibs of a proband who are older than age 12 months is not recommended.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
For an affected pregnant woman, ongoing intravenous immunoglobulin to prevent infection related to severe hypogammaglobulinemia and cotrimoxazole prophylaxis to prevent Pneumocystis jirovecii infection is appropriate during pregnancy. There is evidence that early treatment of a baby known to be homozygous for pathogenic SP110 pathogenic variants may result in improved long-term outcomes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
### Other
Hepatic VOD (hVOD) has been reported in the Australian cohort with VODI following hematopoietic stem cell transplantation (HSCT); therefore, individuals with VODI are likely to have at least the population risk for hVOD following HSCT. The first successful HSCT was reported by Ganaiem et al [2013] suggesting that this may be an efficacious treatment modality with appropriate conditioning therapy. Ganaiem et al described a consanguineous Arab family with eight affected individuals; five individuals received HSCT, of which three were successful. All five individuals received matched sib or family member bone marrow (4 individuals) or peripheral stem cells (1 individual). All five individuals received conditioning with fludarabine and serotherapy and an alkylating agent (cyclophosphamide, busulfan, or treosulfan). The two individuals who died also received thiotepa, and following engraftment died with hVOD and multiorgan failure. One child has remained well for two years following uncomplicated HSCT in 2014. She was of consanguineous Lebanese background and presented at age four months with probable herpetic hepatitis which initially responded clinically to acyclovir, but then developed florid hVOD following a transfusion. She responded well to IVIG, prophylactic Bactrim™, and defibrotide. She was neurologically normal, but asymptomatic bilateral subdural hematomas were found on routine pre-transplant MRI despite a normal head ultrasound a week prior when coagulation studies and platelets had already normalized. At age six months she underwent an unrelated cord blood transplant with alemtuzumab, fludarabine, treosulfan and antithymocyte globulin conditioning. Defibrotide was prophylactically continued until two months post transplant. She remains neurologically normal and her MRI scan at age two years showed no anatomic abnormality [M Wong, personal communication].
In 2016, an Australian infant of consanguineous Lebanese background presented at age four months with Pneumocystis, CMV infection, and hVOD with hypogammaglobinemia. A homozygous SP110 pathogenic variant (c.642delC) was identified on molecular genetic testing. At age five months, after control of pneumonitis and hVOD, he received a haplo-identical paternal HSCT after depletion of α/β TCR and CD19+ cells. He received conditioning with fludarabine, treosulfan, and antithymocyte globulin. Defibrotide was given as hVOD prophylaxis. Two months post transplant he was well and had engrafted without GVHD or recurrence of hVOD but with moderate CMV hepatitis. Defibrotide was able to be discontinued at day 60. Both the affected individual and donor were CMV positive prior to transplant. Seventy days following HSCT he developed seizures. MRI showed extensive abnormalities throughout the brain and spinal cord, including areas of edema and ring-like enhancing lesions. CT showed widespread calcifications. CMV retinitis was apparent and both CSF and vitreous were CMV PCR positive [T Cole, J Smart, and T Soosay Raj, personal communication].
Inclusion of defibrotide prophylaxis in the transplant regimen may improve survival. Omission of a second alkylating agent in the conditioning regimen may reduce the risk for transplant-related hVOD.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hepatic Veno-Occlusive Disease with Immunodeficiency
|
c1856128
| 26,029 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1271/
| 2021-01-18T21:22:00 |
{"mesh": ["C537257"], "synonyms": ["VODI"]}
|
A number sign (#) is used with this entry because susceptibility to Budd-Chiari syndrome can result from mutation in the F5 gene (612309) on chromosome 1q24 or somatic mutation in the JAK2 gene (147796) on chromosome 9p24.
Clinical Features
Budd-Chiari syndrome is a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain, and abdominal ascites (Zimmerman et al., 2006).
One of the causes of the Budd-Chiari syndrome is a membranous obstruction of the inferior vena cava (MOVC). Primary thrombosis due to a thrombophilia such as that resulting from defects in the natural coagulation inhibitors such as protein C (612283), protein S (176880), and antithrombin III (107300) are also causes. Riemens et al. (1995) reported a family in which 3 of 11 sibs (2 sisters and 1 brother) showed symptoms of MOVC developing in early adult life. All had signs of more longstanding disease, as judged by the presence of collaterals, cirrhosis, and, in one case, hepatocellular carcinoma. The brother died with lung metastasis from the hepatocellular carcinoma, while the 2 sisters had surgical removal of the membrane and were well 20 and 21 years after surgery. On family screening, no further cases of membranous obstruction of the inferior vena cava were found. There was no evidence of an inherited defect in a coagulation inhibitor or plasminogen deficiency (173350); however, Riemens et al. (1995) could not totally exclude a thrombotic etiology.
Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera (PV; 263300). Cario et al. (2003) described a third pediatric case of Budd-Chiari syndrome as the initial symptom of familial polycythemia vera in an 11-year-old girl; the patient's grandmother also had polycythemia vera. The patient's mother was unaffected. The patient underwent orthotopic liver transplantation and the polycythemia vera was treated with hydroxyurea. In agreement with the clinical diagnosis, the polycythemia rubra vera-1 gene (PRV1; 162860) showed increased mRNA expression in peripheral granulocytes.
Menon et al. (2004) reviewed all aspects of Budd-Chiari syndrome, including the inherited hypercoagulable states that had been found to be associated with the disorder. They noted that the relative risk of hepatic vein thrombosis among women who use oral contraceptives is 2.37, which is similar to their relative risk of stroke, myocardial infarction, and venous thromboembolism (Valla et al., 1986). Many patients in whom Budd-Chiari syndrome develops in association with the use of oral contraceptives or pregnancy also have an underlying thrombophilia, either inherited or acquired.
Molecular Genetics
Mahmoud et al. (1997) reported the incidence of the factor V Leiden mutation (R506Q; 612309.0001) in Budd-Chiari syndrome and portal vein thrombosis. The R506Q mutation was seen in 7 (23%) of 30 patients with Budd-Chiari syndrome (6 heterozygotes and 1 homozygote), 3 of whom had coexistent myeloproliferative disease. Only 1 (3%) of 32 patients with portal vein thrombosis was found to have the R506Q mutation. The mutation was found in 3 (6%) of the 54 controls, who had liver disease but no history of thrombophilia. Mahmoud et al. (1997) concluded that the R506Q mutation seems to be an important factor in the pathogenesis of Budd-Chiari syndrome but not of portal vein thrombosis.
Gurakan et al. (1999) described a child with Budd-Chiari syndrome who was homozygous for the factor V Leiden mutation. Budd-Chiari syndrome is rare in children.
Janssen et al. (2000) compared 43 patients with Budd-Chiari syndrome and 92 patients with portal vein thrombosis with 474 population-based controls. The relative risk of Budd-Chiari syndrome was 11.3 for individuals with the factor V Leiden mutation, 2.1 for those with a prothrombin (176930) gene mutation, and 6.8 for those with protein C deficiency. In patients with portal vein thrombosis, the corresponding figures were 2.7, 1.4, and 4.6, respectively. The relative risk of Budd-Chiari syndrome or portal vein thrombosis was not increased in the presence of inherited protein S or antithrombin deficiency.
Patel (2005) identified a V617F mutation in the JAK2 gene (147796.0001) in a high proportion of patients with the Budd-Chiari syndrome, providing evidence that these patients have a latent myeloproliferative disorder. Chung et al. (2006) described Budd-Chiari syndrome in a 46-year-old woman who was well until the onset of increasing abdominal distention over a period of several days. She was found to have a combination of the JAK2 V617F mutation and the factor V Leiden mutation.
Pathogenesis
Sozer et al. (2009) identified somatic homozygous JAK2 V617F mutations in liver venule endothelial and hematopoietic cells from 2 unrelated patients with polycythemia vera who developed Budd-Chiari syndrome. However, analysis of endothelial cells from a third PV patient with Budd-Chiari syndrome and in 2 patients with hepatoportal sclerosis without PV showed only wildtype JAK2. Endothelial and hematopoietic cells are believed to come from a common progenitor called the hemangioblast. Sozer et al. (2009) concluded that finding V617F-positive endothelial cells and hematopoietic cells from patients with PV who developed Budd-Chiari syndrome indicates that endothelial cells are involved by the PV malignant process, and suggested that the disease might originate from a common cell of origin in some patients.
Oncology \- Hepatocellular carcinoma Inheritance \- ? Autosomal recessive GI \- Cirrhosis Vascular \- Membranous obstruction of inferior vena cava (MOVC) \- Collateral veins ▲ 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
|
BUDD-CHIARI SYNDROME
|
c0019154
| 26,030 |
omim
|
https://www.omim.org/entry/600880
| 2019-09-22T16:15:45 |
{"doid": ["11512"], "mesh": ["D006502"], "omim": ["600880"], "icd-9": ["453.0"], "icd-10": ["I82.0"], "orphanet": ["131"]}
|
Isaacs and Badenhorst (1977) described 2 brothers, aged 12 and 14 years, with progressive weakness, particularly of the legs, dating from infancy. They complained of severe pains in the hands and feet, aggravated by heat, hot weather or a fever. Muscular atrophy and sensory loss were evident. Biopsies showed tomaculous (sausage shaped) swellings affecting the myelin sheaths of nerves.
Misc \- Infantile onset \- Aggravated by heat, hot weather or fever Muscle \- Muscle atrophy Neuro \- Progressive weakness \- Leg weakness \- Painful hands and feet \- Sensory loss Lab \- Tomaculous (sausage shaped) swellings of myelin sheaths on nerve biopsy 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
|
NEUROPATHY, PAINFUL
|
c1850383
| 26,031 |
omim
|
https://www.omim.org/entry/256870
| 2019-09-22T16:24:15 |
{"mesh": ["C564945"], "omim": ["256870"]}
|
A number sign (#) is used with this entry because leptin receptor deficiency (LEPRD) is caused by homozygous mutation in the LEPR gene (601007) on chromosome 1p31.
Description
Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).
Clinical Features
Clement et al. (1998) described a consanguineous family of Kabylian (Berber of northern Algeria) origin in which 3 of 9 sibs had morbid obesity with onset in early childhood. The affected sisters had normal birth weights, but developed severe obesity in the first months of life. They showed abnormal eating behaviors resembling those seen in Prader-Willi syndrome (PWS; 176270) and in individuals with anatomic damage of the hypothalamic area; behavior included fighting with other children for food, impulsivity, and stubbornness. Psychologic testing showed emotional lability and social disability, but no mental retardation. Core temperature and glucose metabolism were normal, as were ACTH and cortisol, but growth hormone and thyrotropin levels were low. The girls did not spontaneously develop puberty and had low estradiol, LH, and FSH levels consistent with central hypogonadism. These results suggested that leptin (164160) and the leptin receptor are important physiologic regulators of several endocrine functions in humans. Clement et al. (1998) considered their results to indicate that leptin is an important physiologic regulator of several endocrine functions in humans.
Farooqi et al. (2007) identified 7 homozygotes for mutations in the LEPR gene among 300 patients with hyperphagia and severe early-onset obesity, including 90 probands from consanguineous families. Affected individuals were characterized by hyperphagia, severe obesity, alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. Serum leptin levels were within the range predicted by the elevated fat mass in these patients. Their clinical features were less severe than those of patients with congenital leptin deficiency (614962).
Dehghani et al. (2018) reported a large consanguineous family in which 9 members, aged 3 to 36 years, had severe early-onset obesity. All affected members had normal head circumference and weight at birth. Weight gain occurred rapidly shortly after birth, leading to severe obesity in early infancy. Affected members had marked hyperphagia and aggressive food-seeking behaviors. No abnormalities were observed on clinical examination, and development and height were normal. Affected members also had an increased rate of intestinal and respiratory tract infections and a longer period of recovery from these infections. The 2 affected adult females had extremely high body mass index and hypogonadal infertility, whereas the body mass index of the 2 affected adult males declined around onset of puberty with preservation of fertility. Dehghani et al. (2018) suggested that there might be a gender-specific effect on body weight regulation in patients with this condition.
Molecular Genetics
In 3 morbidly obese sisters from a consanguineous Berber family, Clement et al. (1998) found homozygosity for a mutation in the LEPR gene, a G-to-A transition at the +1 position of intron 16 (601007.0002).
To determine the prevalence of pathogenic LEPR mutations in severely obese patients, Farooqi et al. (2007) sequenced LEPR in 300 patients with hyperphagia and severe early-onset obesity, including 90 probands from consanguineous families. Eight (3%) of the 300 patients had nonsense or missense LEPR mutations, including 7 homozygotes and 1 compound heterozygote. All missense mutations resulted in impaired receptor signaling.
In a consanguineous Iranian family in which 9 members had severe early-onset obesity mapped to chromosome 1p31.3, Dehghani et al. (2018) sequenced the LEPR gene and identified homozygosity for a nonsense mutation (Y155X; 601007.0006). The mutation segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, gnomAD, GME Variome Project, or Iranome databases.
Other Features
Lonnqvist et al. (1995) found overexpression of the human OB gene (LEP) in subcutaneous and omental adipose tissue in massively obese persons. Hamilton et al. (1995) likewise reported that OB mRNA expression is elevated in ex vivo omental adipocytes isolated from massively obese humans despite the absence of an identifiable mutation in the OB gene. This led them to speculate that this increased expression results from an insensitivity to the putative regulatory function(s) of the OB gene product. Maffei et al. (1995) found that mice with lesions of the hypothalamus, as well as mice mutant at the db locus (Lepr), expressed a 20-fold higher level of ob RNA in adipose tissue. These data suggested that both the db gene and the hypothalamus are downstream of the ob gene in the pathway that regulates adipose tissue mass and are consistent with previous experiments, suggesting that the db locus encodes the ob receptor.
INHERITANCE \- Autosomal recessive GROWTH Height \- Normal linear growth in childhood \- Short stature (final height) Weight \- Obesity, severe (onset from birth) Other \- No pubertal growth spurt \- BMI in males decreases around puberty RESPIRATORY \- Upper respiratory tract infections ABDOMEN Gastrointestinal \- Hyperphagia GENITOURINARY External Genitalia (Male) \- Normal sexual and reproductive function Internal Genitalia (Male) \- Normal sexual and reproductive function Internal Genitalia (Female) \- Delayed menses \- Irregular menses NEUROLOGIC Behavioral Psychiatric Manifestations \- Hyperphagia ENDOCRINE FEATURES \- Hypogonadotropic hypogonadism \- Low insulin-like growth factor 1 (in adults) \- Low testosterone \- Low estradiol \- Low follicle-stimulating hormone \- Low luteinizing hormone \- Diabetes mellitus (in some patients) IMMUNOLOGY \- Frequent childhood infections (predominantly upper respiratory tract) \- Reduction in absolute CD4+ T-cells \- Compensatory increase in CD19+ cell (B-cell) count \- T-cells show reduced proliferative responses MISCELLANEOUS \- Onset of severe hyperphagia and rapid weight gain from birth \- BMI of males begins to decrease with onset of puberty \- Heterozygote LEPR deficient individuals have increased fat mass MOLECULAR BASIS \- Caused by mutation in the leptin receptor gene (LEPR, 601007.0001 ) ▲ 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
|
LEPTIN RECEPTOR DEFICIENCY
|
c3554225
| 26,032 |
omim
|
https://www.omim.org/entry/614963
| 2019-09-22T15:53:32 |
{"omim": ["614963"], "orphanet": ["179494"], "synonyms": ["Alternative titles", "OBESITY, MORBID"]}
|
Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired.
The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months.
Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive).
There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.
## Frequency
One type of surfactant dysfunction, SP-B deficiency, is estimated to occur in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction due to other causes is unknown.
## Causes
Surfactant dysfunction is caused by mutations in one of several genes, including SFTPB, SFTPC, and ABCA3. Each of these genes is involved in the production of surfactant. The production and release of surfactant is a complex process. The phospholipids and proteins that make up surfactant are packaged in cellular structures known as lamellar bodies. These structures are also important for some processing of surfactant proteins, which is necessary for the proteins to mature and become functional. Surfactant is released from the lung cells and spreads across the tissue that surrounds alveoli. This substance lowers surface tension, which keeps the alveoli from collapsing after exhalation and makes breathing easy.
The SFTPB and SFTPC genes provide instructions for making surfactant protein-B (SP-B) and surfactant protein-C (SP-C), respectively, two of the four proteins in surfactant. These two proteins help spread the surfactant across the surface of the lung tissue, aiding in the surface tension-lowering property of surfactant. In addition, SP-B plays a role in the formation of lamellar bodies.
Mutations in the SFTPB gene cause a type of surfactant dysfunction sometimes referred to as SP-B deficiency. These mutations lead to a reduction in or absence of mature SP-B. In addition, SFTPB gene mutations cause abnormal processing of SP-C, resulting in a lack of mature SP-C and a buildup of unprocessed forms of SP-C. These changes lead to abnormal surfactant composition and decreased surfactant function. The loss of functional surfactant raises surface tension in the alveoli, causing severe breathing problems. The combination of SP-B and SP-C dysfunction may explain why the signs and symptoms of SP-B deficiency are so severe.
Mutations in the SFTPC gene are involved in a type of surfactant dysfunction sometimes called SP-C dysfunction. These mutations result in a reduction or absence of mature SP-C and the buildup of abnormal forms of SP-C. It is unclear which of these outcomes causes the signs and symptoms of SP-C dysfunction. Lack of mature SP-C can lead to abnormal composition of surfactant and decreased surfactant function. Alternatively, research suggests that abnormally processed SP-C proteins form the wrong three-dimensional shape and accumulate inside the lung cells. These misfolded proteins may trigger a cellular response that results in cell damage and death. This damage may disrupt surfactant production and release.
The ABCA3 gene provides instructions for making a protein that is found in the membrane that surrounds lamellar bodies. The ABCA3 protein transports phospholipids into lamellar bodies where they form surfactant. The ABCA3 protein also appears to be involved in the formation of lamellar bodies.
ABCA3 gene mutations, which cause a type of surfactant dysfunction sometimes referred to as ABCA3 deficiency, lead to reduction or absence of the protein's function. Without ABCA3 protein function, the transport of surfactant phospholipids is decreased. In addition, lamellar body formation is impaired, which causes abnormal processing of SP-B and SP-C. ABCA3 gene mutations result in abnormal surfactant composition and function. It has been suggested that mutations that eliminate ABCA3 protein function cause severe forms of surfactant dysfunction, and mutations that leave some residual ABCA3 activity cause milder forms of the condition.
### Learn more about the genes associated with Surfactant dysfunction
* ABCA3
* SFTPB
* SFTPC
Additional Information from NCBI Gene:
* CSF2RA
* CSF2RB
## Inheritance Pattern
Surfactant dysfunction can have different inheritance patterns depending on its genetic cause.
When caused by mutations in the SFTPB or ABCA3 gene, 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.
When caused by mutations in the SFTPC gene, this condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases caused by changes in the SFTPC gene, an affected person inherits the mutation from one affected parent. The remainder 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
|
Surfactant dysfunction
|
c1968602
| 26,033 |
medlineplus
|
https://medlineplus.gov/genetics/condition/surfactant-dysfunction/
| 2021-01-27T08:24:56 |
{"mesh": ["C566882"], "omim": ["265120", "610913", "300770", "614370"], "synonyms": []}
|
## Clinical Features
In Brazil, Pinheiro and Freire-Maia (1983) studied a Caucasian family with 11 persons (7 women, 4 men) in 4 generations with a mild and variable ectodermal dysplasia manifested by skin, tooth, and nail abnormalities, except for the proband who had a more severe clinical picture including trichodysplasia. Pinheiro and Freire-Maia (1983) compared this disorder with many other similar conditions and concluded that it is a distinct entity.
Pinheiro et al. (1990) described 2 sisters and a brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. The father and several relatives on his side had minor dental anomalies.
Inheritance
Male-to-male transmission and an 11 unaffected:10 affected segregation ratio in the family reported by Pinheiro and Freire-Maia (1983) supported autosomal dominant inheritance.
Hair \- Trichodysplasia Nails \- Onychodysplasia Teeth \- Dental anomalies Inheritance \- Autosomal dominant Skin \- Mild variable ectodermal dysplasia ▲ 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
|
DERMOODONTODYSPLASIA
|
c1852144
| 26,034 |
omim
|
https://www.omim.org/entry/125640
| 2019-09-22T16:42:19 |
{"mesh": ["C565103"], "omim": ["125640"], "orphanet": ["1660"], "synonyms": ["Alternative titles", "ECTODERMAL DYSPLASIA, HAIR-NAIL-TOOTH TYPE"]}
|
A number sign (#) is used with this entry because combined saposin deficiency is caused by homozygous or compound heterozygous mutation in the PSAP gene (176801) on chromosome 10q22.1.
Clinical Features
Harzer et al. (1989) described a patient, born of consanguineous parents, with combined SAP deficiency. Shortly after birth, the proband presented hyperkinetic behavior, myoclonus, respiratory insufficiency, and hepatosplenomegaly. Gaucher-like storage cells were found in the bone marrow, and there were elevated levels of glucosylceramide and ceramide in the liver. Reduced levels of glucosylceramidase, galactosylceramidase, and ceramidase were observed in cultured skin fibroblasts, and no saposin C was detected with a monospecific antiserum. Sphingomyelinase activity was normal. The proband died at 16 weeks of age. His fetal sib was similarly affected. Harzer et al. (1989) named the disorder SAP deficiency (SAPD).
Hulkova et al. (2001) described a fatal infantile storage disorder in a Slovakian infant with hepatosplenomegaly, severe neurologic disease, and storage of sphingolipids, including monohexosylceramides, dihexosylceramides, globotriaosylceramide, sulfatides, ceramides, and globotetraosylceramide. The infant showed hepatosplenomegaly at birth and developed seizures. He was never fully conscious and died at 3.5 months. Brain sonography revealed a diffuse periventricular and cortical atrophy as well as signs of atrophy in the brain stem and cerebellum. Abnormal histiocytes infiltrated a number of visceral organs and the brain. The ultrastructure of the storage lysosomes was membranous with oligolamellar, mainly vesicular, profiles. The neuropathology was severe and featured neuronal storage and loss with a massive depopulation of cortical neurons and pronounced fibrillary astrocytosis. There was a paucity of myelin and stainable axons in the white matter with signs of active demyelination. A second Slovakian patient with a similar disease course was also reported.
Kuchar et al. (2009) reported a male infant with combined saposin deficiency. Directly after birth, the child had treatment-resistant clonic movements and poor feeding. By 4 weeks, he developed hypotonia, myoclonus, and hepatosplenomegaly. He also had atrophic optic discs, and brain imaging showed a thin corpus callosum, bilateral absence of the gyrus cinguli, and periventricular white matter abnormalities. Various tissue samples showed generalized lysosomal storage accumulation, and enzymatic studies showed reduced activity of glucosylceramidase and more markedly reduced activity of galactosylceramidase. Urinary analysis revealed an elevation of a number of glycosphingolipids, with globotriaosylceramide showing the greatest increase. Persistent seizures and respiratory infections led to death at age 55 days. Molecular analysis identified a homozygous truncating mutation in the PSAP gene (176801.0013). The unaffected first-cousin parents were both heterozygous for the mutation.
Molecular Genetics
In 2 sibs with combined SAP deficiency reported by Harzer et al. (1989), Schnabel et al. (1992) identified a homozygous mutation in the PSAP gene (176801.0005).
In a Slovakian patient with fatal infantile combined SAP deficiency, Hulkova et al. (2001) identified a homozygous mutation in the PSAP gene (176801.0008). Immunohistochemical investigations indicated that saposins A, B, C, and D were all deficient.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Optic atrophy (reported in 1 patient) RESPIRATORY \- Neonatal respiratory failure ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly Gastrointestinal \- Poor feeding NEUROLOGIC Central Nervous System \- Myoclonus \- Hyperkinetic movements \- Clonic seizures \- Fasciculations \- Extensor plantar responses \- Exaggerated Moro reflex \- Hypotonia \- Hypo- and demyelination of the brain \- Thin corpus callosum \- Periventricular white matter changes \- Neuronal loss \- Fibrillary astrocytes LABORATORY ABNORMALITIES \- Multiple tissue biopsies show lysosomal storage disease \- Deficiency of saposins A, B, C, and D \- Decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes \- Increased urinary glycosphingolipids, particularly globotriaosylceramide MISCELLANEOUS \- Onset at birth \- Death in infancy MOLECULAR BASIS \- Caused by mutation in the prosaposin gene (PSAP, 176801.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
COMBINED SAPOSIN DEFICIENCY
|
c2673635
| 26,035 |
omim
|
https://www.omim.org/entry/611721
| 2019-09-22T16:02:58 |
{"doid": ["0111330"], "mesh": ["C567125"], "omim": ["611721"], "orphanet": ["139406"], "synonyms": ["COMBINED SAP DEFICIENCY", "Combined prosaposin deficiency", "Alternative titles", "PROSAPOSIN DEFICIENCY"]}
|
X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
X-linked severe combined immunodeficiency
|
c1279481
| 26,036 |
gard
|
https://rarediseases.info.nih.gov/diseases/5618/x-linked-severe-combined-immunodeficiency
| 2021-01-18T17:57:02 |
{"mesh": ["D053632"], "omim": ["300400"], "orphanet": ["276"], "synonyms": ["X-SCID", "Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative", "X-linked SCID", "SCIDX1", "T-B+ severe combined immunodeficiency, X-linked", "Severe combined immunodeficiency T- B+ due to gamma chain deficiency", "SCID, X-linked", "SCIDX", "T-B+ SCID due to gamma chain deficiency", "Severe combined immunodeficiency T- B+, X-linked", "Severe combined immunodeficiency, X-linked", "XSCID"]}
|
Knee effusion
Swollen right knee due to excess synovial fluid.
SpecialtyRheumatology
Intermittent hydrarthrosis (IH), also known as periodic synoviosis, periodic benign synovitis, or periodic hydrarthritis, is a chronic condition of unknown cause characterized by recurring, temporary episodes of fluid accumulation (effusion) in the knee. While the knee is mainly involved, occasionally other joints such as the elbow or ankle can additionally be affected. Fluid accumulation in the joint can be extensive causing discomfort and impairing movement, although affected joints are not usually very painful. While the condition is chronic, it does not appear to progress to more destructive damage of the joint. It seems to affect slightly more women than men.
Episodes of swelling last several days or longer, can occur with regular or semi-regular frequency, typically one or two episodes per month. Between periods of effusion, knee swelling reduces dramatically providing largely symptomless intervals. Unlike some other rheumatological conditions such as rheumatoid arthritis, laboratory findings are usually within normal ranges or limits.
Clear treatment options have yet to be established. NSAIDs and COX2-inhibitors are generally not effective. Where this condition has been correctly diagnosed, various anti-rheumatic drugs as well as colchicine may be trialled to find the most effective option. More aggressive intra-articular treatment such chemical or radio-active synovectomy can also be helpful although benefits beyond 1 year have not been reported in literature.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Differential diagnoses
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 References
* 10 External links
## Signs and symptoms[edit]
Repeated, periodic joint effusions of the knee. Usually one knee is affected but sometimes both knees. Other joints may also be involved along with the knee. Effusions are large, restricting range of motion but significant pain is not a feature. There is usually stiffness. Tenderness of the joint may or may not be present.[1] Aspirated synovial fluid is usually sterile[2] but will sometimes show elevated cell count (>100 cells/mL) with 50% being polymorphonuclear leukocytes.[3]
Onset of effusions are sudden with no particular trigger or stimulus. Each episode lasts for a few days to about a week and recurs in cycles of 7 to 11 days with extremes of 3 days to 30 days also reported. Sometimes the joint may begin to swell again as soon as the fluid has subsided. Where both knees are affected concurrently, as one joint ceases to swell the other may become involved.[1][2][4]
The cycle of joints swellings have been reported as being very regular, even predictable. This has been a characteristic feature of IH in many case reports. However, over the longer-term especially, these cycles of effusion and recovery may not be as constant as first reported.
In women, many cases seem to begin at puberty. Episodes of knee swelling may coincide the menstrual cycle. In nearly all case reports, pregnancy seems to suppress the condition but after birth, during lactation, it returns.[1]
In the main, patients are mostly free of other symptoms. Fever is rare. There no signs of local inflammation or lymphatic involvement.[3] Laboratory tests are generally normal or within reference limits.
## Cause[edit]
The cause is unknown but allergic and auto-inflammatory mechanisms have been proposed.[1][3][5]
In a 1957 review of IH, Mattingly did not find evidence that the condition is inherited unlike Reimann who, in 1974, describes the condition as “heritable, non-inflammatory, and afebrile”.[2][5]
More recently, specific association with the Mediterranean fever gene, MEFV, has been proposed.[6] So, with some individuals carrying gene mutations (MEFV and also TRAPS-related genes), the native immune system seems to plays a role in the development of IH,[7] i.e. there is an auto-immune component to the condition.
## Pathophysiology[edit]
Involvement of mast cells has been reported [7][8] reflecting a possible immunoallergic aspect to IH.
Mattingly suggests that IH may be an unusual variant of rheumatoid arthritis, and some patients may go on to develop RA. Joint damage however does not generally occur[2][5] and only the synovial membrane is affected by a ‘non-inflammatory oedema’.[1]
With regard to the periodic nature of effusions, Reimann theorises that: “…either an inherent rhythm or a feedback mechanism (Morley, 1970) excites 'bioclocks' in the hypothalamus or in the synovial membrane (Richter, 1960). These 'Zeitgebers' provoke sudden accumulation of plasma in the lining and spaces of joints, tendon and ligament sheaths.”[5]
## Diagnosis[edit]
There is no specific test for this condition. Diagnosis is based on signs and symptoms, and exclusion of other conditions.
### Differential diagnoses[edit]
* Rheumatoid arthritis. Confusion with rheumatoid arthritis may be common[5] even though IH is a non-inflammatory condition without the many signs and symptoms associated with RA. So far, an association with HLA-B27 gene in IH has not been reported. With RA, small joints are mostly affected in an inflammatory, destructive manner.[5] This is not observed in IH. Rheumatoid factor, cyclic citrullinated peptide antibodies and antinuclear antibodies are usually negative in IH.
* Palindromic rheumatism. Like IH, palindromic rheumatism (PR) is also characterised by relapsing, short-episodes of sudden onset arthritis with no recognisable trigger. However, unlike PR, IH affects the knee almost exclusively[2] and there is a predictable periodic, regularity of attacks, with laboratory tests during attacks being generally unremarkable.[9] PR is also more likely to be associated with development of rheumatoid arthritis.
* Familial Mediterranean Fever. For some patients with FMF, episodes of knee or joint inflammation may be the only presenting symptom during an acute inflammatory episode.[6] The MEFV gene mutations associated with FMF have been implicated in the pathogenesis of both palindromic rheumatism and IH.
* Other conditions for consideration (or exclusion) are other periodic arthropathies, crystal arthopathy, prepatellar bursitis (housemaids knee), pigmented villonodular synovitis, trauma and infectious causes.
## Treatment[edit]
No treatment has been found to be routinely effective. NSAIDs and COX-2 inhibitors are not generally helpful other than for general pain relief. They do not seem to help reduce effusions or prevent their occurrence. Low-dose colchicine (and some other ‘anti-rheumatic’ therapies e.g. hydroxychloroquine) have been used with some success. (Use of methotrexate and intramuscular gold have not been reported in the literature). More aggressive treatments such as synovectomy, achieved using intra-articular agents (chemical or radioactive) can provide good results, with efficacy reported for at least 1 year.[10]
Reducing acute joint swelling:
Arthrocentesis (or drainage of joint) may be useful to relieve joint swelling and improve range of motion. Local steroid injections can also reduce fluid accumulation short-term, but do not prevent onset of episodes. These treatments provide temporary relief only.[3][5] Bed rest, ice packs splints and exercise are ineffective.[1]
A single case report of a patient with treatment-refractory IH describes the use of anakinra, an interleukin 1 receptor antagonist. At the first sign of any attack, a single 100 mg dose was given. With this dosing at onset of attacks, each episode of effusion was successfully terminated.[7]
Reducing frequency and severity of IH episodes:
Case reports indicate some success using long-term, low-dose colchicine (e.g. 0.5 mg to 1 mg daily).[11] A recent single case report has shown hydroxychloroquine (300 mg daily) to be effective too.[12]
Small-sized clinical trials have shown positive results with (1) chemical and (2) radioactive synovectomy. (1) Setti et al. treated 53 patients with rifampicin RV (600 mg intra-articular injections weekly for approximately 6 weeks) with good results at 1 year follow-up.[10] (2) Top and Cross used single doses of intra-articular radioactive gold in 18 patients with persistent effusions of mixed causes including 3 with IH. All 3 patients with IH responded well to treatment at one-year follow-up.[13]
## Prognosis[edit]
Once established, periods of remissions and relapse can persist indefinitely. While IH may remit spontaneously[1][12] for most people the condition is long-lasting. Treatments as described above can be effective in reducing the frequency and degree of effusions. Deformative changes to joints are not a common feature of this mostly non-inflammatory condition.
## Epidemiology[edit]
Intermittent hydrarthrosis is uncommon and its prevalence is not known. (In 1974 more than 200 cases were reported in published literature).[5] It affects men and women equally[2] although some publications suggest the condition is slightly more prevalent in females.[6][12] Case reports indicate that only white people are affected.[3][14] First onset of IH is most common between the ages of 20 and 50 years, and in females, onset can often coincide with puberty.[2]
Usually the condition begins spontaneously or following trauma to the joint in otherwise healthy individuals.[1][2][5]
## History[edit]
Perrin (France) is reported to have first recorded this condition in 1845.[3] The periodic nature of infusions was noted by CH Moore (Middlesex Hospital, UK) in 1852.
When the condition was first being reported in scientific journals, IH was classified as either ‘symptomatic’ or ‘idiopathic’ (of unknown cause). The symptomatic state was associated with existing disease such as rheumatoid arthritis, ankylosing spondylitis, other arthritis, or infection e.g. Brucellosis. With the idiopathic variant, an allergic component was believed to be involved since, in some patients at least, allergic phenomena (including cases of angioedema) were associated with episodes of inflammation. Rheumatoid disease did not develop in this latter variant.[1][2][4]
Today, a primarily auto-immune cause predominates literature with speculation that IH may be an inherited condition (see Causes).
On the basis that IH is periodic in its presentation, early researchers proposed links with malaria where symptoms are also cyclical, even though the two have different duration cycles. Treatment with quinine (and arsenic) compounds were trialled with little benefit. Links to other infectious disease have also been posited over the years. These included Brucella, gonorrhoea, and syphilis.[2]
Adrenaline injections, mercury, various hormone treatments (ovarian extracts, growth hormone, stilboestrol), and ergotamine tartrate are among other treatments at some time used without significant or long-term benefit.[2] Physiotherapy,[1] surgery, exclusion diets (following allergen testing) have similarly shown no particular success in early reports of IH.[2]
## References[edit]
1. ^ a b c d e f g h i j Carter, G (1930). "Intermittent Hydrarthrosis: (Hydrops Intermittens Articulorum)". Yale J Biol Med. 2 (6): 431–6. PMC 2606279. PMID 21433466.
2. ^ a b c d e f g h i j k l Mattingly, S (1957). "Intermittent hydrarthrosis". BMJ. 1 (5011): 139–143. doi:10.1136/bmj.1.5011.139. PMC 1974110. PMID 13383213.
3. ^ a b c d e f Reeves, J (1949). "Intermittent hydrarthrosis – two cases". Calif Med. 71 (5): 359–361.
4. ^ a b Garrod, AE (1910). "Concerning intermittent hydrarthrosis". Quarterly Journal of Medicine. 3 (2): 207–220.
5. ^ a b c d e f g h i Reimann, HA (1974). "Periodic synoviosis (intermittent hydrarthrosis) with observations and studies on a patient" (PDF). Postgraduate Medical Journal. 50 (579): 33–36. doi:10.1136/pgmj.50.579.33. PMID 4464498.
6. ^ a b c Cañete, JD; et al. (2007). "An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism". Arthritis Rheum. 56 (8): 2784–8. doi:10.1002/art.22755.
7. ^ a b c Andrés, M; Pascual, E (Jan 2013). "Anakinra for a refractory case of intermittent hydrarthrosis with a TRAPS-related gene mutation". Ann Rheum Dis. 72 (1): 155. doi:10.1136/annrheumdis-2012-202087.
8. ^ Malone, DG; Wilder, RL (Mar 1989). "Participation of synovial mast cells in intermittent hydrarthrosis". Arthritis Rheum. 32 (3): 357–8. doi:10.1002/anr.1780320323.
9. ^ Matteson EL. Periodic syndromes. In: Klippel JH, ed. Primer on the rheumatic diseases. Atlanta: Arthritis Foundation, 1997: 127–9.
10. ^ a b Setti G, Calciolari CA, Cimino V, et al. The treatment of idiopathic and secondary hydrarthrosis of the knee by intra-articular Rifamycin SV. Chir.Organi.Mov.1990; 75(4): 343-6. [Article in English, Italian]
11. ^ Queiro; Silva, R; Tinturé; Eguren, T; López; Lagunas, I (2003). "Successful therapy with low‐dose colchicine in intermittent hydrarthrosis [correspondence]". Rheumatology. 42 (2): 391–392. doi:10.1093/rheumatology/keg068.
12. ^ a b c Julkunen, H (2015). "Successful Treatment of Intermittent Hydrarthrosis With Hydroxychloroquine". Journal of Clinical Rheumatology. 21 (8): 454. doi:10.1097/rhu.0000000000000325. PMID 26587859.
13. ^ Topp, JR; Cross, EG (Apr 1970). "The treatment of persistent knee effusions with intra-articular radioactive gold: preliminary report". Can Med Assoc J. 102 (7): 709–14. PMC 1946650. PMID 5439327.
14. ^ Berger, H (1939). "Intermittent hydrarthrosis with an allergic basis". JAMA. 112 (23): 2402–2405. doi:10.1001/jama.1939.02800230026009.
## External links[edit]
Classification
D
* ICD-10: M12.4
* DiseasesDB: 29890
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Intermittent hydrarthrosis
|
c0149910
| 26,037 |
wikipedia
|
https://en.wikipedia.org/wiki/Intermittent_hydrarthrosis
| 2021-01-18T19:06:14 |
{"icd-10": ["M12.4"], "orphanet": ["329967"], "synonyms": [], "wikidata": ["Q11790313"]}
|
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
## Epidemiology
It has been identified in approximately 30 families.
## Clinical description
Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterized by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias.
## Etiology
Missense mutations in the CPT2 gene result in the infantile form of CPT II deficiency. Contrary to the adult myopathic form (see this term), no S113L mutations have ever been detected in the infantile form.
## Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometric analysis of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPT2 enzyme activity in fresh circulating lymphocytes, muscle or skin fibroblasts.
## Differential diagnosis
The differential diagnosis should include carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms).
## Antenatal diagnosis
Prenatal diagnosis is available using both molecular and enzymatic analysis.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Treatment is based on prevention of the fasting intolerance by providing carbohydrate calories during periods of febrile or gastrointestinal illness. When well, a low-fat and high-carbohydrate diet is initiated and for the most severe forms of the disease overnight feeding with a slow release carbohydrate such as corn starch can be implemented. Anaplerotic therapy with triheptanoin has also been suggested as a therapy. Plasma carnitine levels may be low in the disease and L-carnitine administration is also used in the treatment but this approach has not been validated in a controlled study.
## Prognosis
The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. This is particularly true for undiagnosed cases. Early diagnosis through newborn screening has identified cases pre-symptomatically and outcomes appear to be improving as a result.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
c1833511
| 26,038 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228305
| 2021-01-23T18:46:33 |
{"mesh": ["C563462"], "omim": ["600649"], "umls": ["C1833511"], "icd-10": ["E71.3"], "synonyms": ["CPT2, hepatocardiomuscular form", "CPT2, severe infantile form", "CPTII, hepatocardiomuscular form", "CPTII, severe infantile form", "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form", "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form", "Carnitine palmitoyl transferase deficiency type 2, severe infantile form"]}
|
A number sign (#) is used with this entry because Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (605018) on chromosome 16q12.
Allelic disorders include familial cylindromatosis (132700) and multiple familial trichoepithelioma-1 (MFT1; 601606), which show overlapping phenotypes.
Description
Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003).
Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).
Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene.
Clinical Features
Schuermann and Weber (1937) presented a pedigree with cylindromas and trichoepitheliomas affecting 9 persons in 4 generations. Six of the 9 were female. Although no male-to-male transmission was noted, 2 daughters of an affected male were affected.
Autio-Harmainen et al. (1988) described a Finnish kindred in which many members had dominantly inherited trichoepithelioma and cylindromas. At least 4 generations and 7 sibships were affected, particularly with facial trichoepithelioma, and at least 4 members of the family were reported to have scalp cylindromas. One patient had eccrine spiradenoma, including painful spiradenomas on the upper chest, implying Brooke-Spiegler syndrome. In addition, an affected mother and daughter developed a malignant lymphoepithelial lesion of the parotid gland. Autio-Harmainen et al. (1988) noted that salivary gland lymphoepithelial lesions had been reported predominantly in the Mongoloid race, with a preponderance of Canadian and Greenland Eskimos and Chinese. Familial occurrence has been noted among the Eskimos (Merrick et al., 1986).
Schramm et al. (1996) reported a 49-year-old woman and her 20-year-old daughter with multiple papular and nodular lesions on the face and scalp, showing the typical clinical and histopathologic features of trichoepithelioma. In addition, the mother developed multiple, blue-colored and painful lesions on her breast and back, showing the histopathologic characteristics of eccrine spiradenomas. The trichoepitheliomas and spiradenomas were found in close proximity in a tissue specimen.
Weyers et al. (1993) reported a patient with Brooke-Spiegler syndrome in whom spiradenomas were found in the immediate vicinity of trichoepitheliomas and in continuity with follicles. Because of the embryonic relationship between follicles and apocrine glands, these features suggested that spiradenomas are apocrine neoplasms. Weyers et al. (1993) noted that basal cell carcinoma and cylindromas have also been observed in BRSS. Schirren et al. (1995) identified both cylindroma and trichoepithelioma in a single nevoid plaque from a patient with Brooke-Spiegler syndrome. Mixed differentiation in tumor specimens from 2 individuals from the same family had also been found (Puig et al., 1998). These findings suggested a defect in the stem cells of the folliculosebaceous-apocrine unit (FSAU), where mutations in genes regulating proliferation and differentiation of the putative stem cells would give rise to different combinations of adnexal skin tumors as well as to other neoplasms (Fenske et al., 2000).
Scheinfeld et al. (2003) reported a family with BRSS. The proband was a 67-year-old man who presented with multiple disfiguring facial papules and scalp nodules. The lesions began in his late teenage years. Physical examination showed numerous flesh-colored, pink, and bluish 0.5- to 2.0-cm papules and nodules on the face, ears, and scalp. Histologic examination of at least 21 lesions showed predominantly cylindromas and spiradenomas, but also included epidermoid inclusion cysts, and basal cell carcinoma. Palmar pits were also observed. The patient's sister and father had a similar phenotype.
Bowen et al. (2005) reported 3 unrelated women with BRSS confirmed by genetic analysis (see, e.g., 605018.0008). One patient had cylindroma and trichoepithelioma, another had cylindroma, trichoepithelioma, and spiradenoma, and the third had cylindroma, spiradenoma, and bilateral basal cell adenocarcinomas of the parotid gland.
Nasti et al. (2009) reported an Italian mother and son with variable manifestations of Brooke-Spiegler syndrome. The 79-year-old mother began developing skin lesions at age 16. She had severe scalp involvement. Most were cylindromas, some with combined features of cylindroma and spiradenoma, and many smaller nodules were trichoepitheliomas. She also had a cutaneous carcinosarcoma on the trunk. Her 54-year-old son had 7 cylindromas and 6 basal cell carcinomas. Both patients carried a heterozygous truncating mutation in the CYLD gene (605018.0010).
Inheritance
Guggenheim and Schnyder (1961) found that 132 of 212 reported cases of BRSS were in females.
One pedigree with at least 9 affected persons and at least 1 instance of male-to-male transmission had been observed, consistent with autosomal dominant inheritance (McKusick, 1971).
Mapping
In a family with Brooke-Spiegler syndrome, Fenske et al. (2000) found evidence for linkage to chromosome 16q12-q13 with a positive lod score of 1.2 by multipoint linkage analysis. They also demonstrated loss of heterozygosity for markers within this region in 2 tumors from this family.
Molecular Genetics
In affected members of a German family with cylindromas, including 1 patient who also had trichoepitheliomas, suggesting BRSS, Poblete Gutierrez et al. (2002) identified a heterozygous truncating mutation in the CYLD gene (605018.0003). The results indicated that a single CYLD mutation can result in phenotypically different tumor types, indicating that cylindromas and trichoepitheliomas are allelic disorders.
In a man with Brooke-Spiegler syndrome, Scheinfeld et al. (2003) identified a heterozygous mutation in the CYLD gene (605018.0004).
Hu et al. (2003) identified a heterozygous mutation in the CYLD1 gene (605018.0007) in a patient with cylindromas on the scalp. However, his affected family members, who carried the same mutation, all had multiple trichoepitheliomas without cylindromas. Since both features were present in this family, the diagnosis was consistent with Brooke-Spiegler syndrome. The findings suggested that MFT1 and BRSS may be variable manifestations of a single disease entity.
Saggar et al. (2008) performed genetic analysis of 25 probands with familial skin appendage tumors. In total, 18 mutations in CYLD, including 6 novel mutations, were identified in 25 probands (72%). The mutation frequencies among distinct phenotypes were 85% for BRSS, 100% for FC, and 44% for MFT1. The majority of the mutations resulted in truncated proteins. There were no apparent genotype-phenotype correlations. Saggar et al. (2008) concluded that mutations in the CYLD gene underlie all 3 disorders, but that the reasons for phenotypic variability remain to be explored.
History
Weyers et al. (1993) noted that Brooke-Spiegler syndrome is named eponymically after the 2 physicians who first reported these neoplasms, Henry G. Brooke and Eduard Spiegler. Brooke (1892) reported on trichoepitheliomas under the designation 'epithelioma adenoides cysticum,' and Spiegler (1899) gave the first precise description of the clinical and histopathologic features of cylindromas.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Cylindromas, multiple (usually occur on the scalp, but may also occur on the face, trunk, and extremities) \- Trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face) \- Spiradenomas \- Milia NEOPLASIA \- Skin appendage tumors may show malignant transformation \- Parotid gland adenoma and adenocarcinoma MISCELLANEOUS \- Onset in early adulthood \- Allelic disorder to multiple familial trichoepithelioma 1 (MFT1, 601606 ) and familial cylindromatosis (FC, 132700 ) MOLECULAR BASIS \- Caused by mutation in the CYLD gene ( 605018.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
BROOKE-SPIEGLER SYNDROME
|
c1857941
| 26,039 |
omim
|
https://www.omim.org/entry/605041
| 2019-09-22T16:11:39 |
{"doid": ["0050693"], "mesh": ["C536611"], "omim": ["605041"], "orphanet": ["79493"], "synonyms": ["Alternative titles", "BSS", "SPIEGLER-BROOKE SYNDROME"]}
|
Woon et al. (1980) described presumably monozygotic male twins who died at ages 2 and 3 months and who showed identical changes in skull and limbs: premature craniosynostosis, synchondrosis of the bones at the base of the skull, absent thumbs, absence of the middle phalanges of fingers 2 and 5, and proximally placed halluces. The mother was Mexican American and the father Sioux Indian without known consanguinity. Chromosomes were normal.
HEENT \- Premature craniosynostosis \- Synchondrosis of basal skull bones Limbs \- Absent thumbs \- Absent middle phalanges of fingers 2 and 5 \- Proximally placed halluces 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
|
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
|
c1857493
| 26,040 |
omim
|
https://www.omim.org/entry/218530
| 2019-09-22T16:29:15 |
{"mesh": ["C565666"], "omim": ["218530"]}
|
## Clinical Features
Encha Razavi et al. (1996) reported a distinct pattern of primary central nervous system degeneration affecting neuronal survival in the brain and spinal cord in 5 fetuses with fetal akinesia sequence (FAS). This neuropathologic pattern was characteristic of a lethal entity that they proposed calling type III lissencephaly syndrome. They presented observations on 2 affected female sibs and stated that this, as well as parental consanguinity, supported autosomal recessive inheritance. Abnormal apoptosis and/or deficiency in neurotrophic factors were mentioned as possible causal mechanisms. In the affected sibs reported by Encha Razavi et al. (1996), fetal ultrasound screening at 23 weeks had shown polyhydramnios and severe arthrogryposis with cerebral malformations (agenesis of the corpus callosum and vermis). Autopsy demonstrated pulmonary hypoplasia and a smooth brain with a hypoplastic brainstem and cystic cerebellum. Coronal sections confirmed the absence of corpus callosum and the presence of large ventricles, and disclosed severe bilateral multicystic periventricular lesions extending to the basal ganglia. Histologic study showed severe neuronal loss. Type I lissencephaly is a major manifestation of Miller-Dieker syndrome (247200) and Norman-Roberts syndrome (257320). Type II lissencephaly, also called cortical dysplasia, is a distinct cytoarchitectonic disorder mainly characterized by the obliteration of the subarachnoid space with neuroglial ectopic tissue, responsible for thick opaque meninges and hydrocephalus. Type II lissencephaly is a specific component of Walker-Warburg syndrome (236670), Fukuyama congenital muscular dystrophy (253800), and some other familial syndromes.
Attia-Sobol et al. (2001) described lissencephaly type III in association with stippled epiphyses and loose, thick skin in 2 male sibs born to young, healthy, second-cousin parents. In the first sib, fetal ultrasound screening at 32 weeks' gestation showed microcephaly, skin infiltration, and equinovarus feet. MRI disclosed cerebral agyria, hypoplastic cerebral mantle, and posterior agenesis of the corpus callosum. The infant died soon after birth at term. His brother was found to have skin infiltration by ultrasound study performed at 16 weeks' gestation. Pregnancy was terminated at 22 weeks' gestation after an MRI showed microcephaly with agenesis of the corpus callosum and cerebellar hypoplasia. The fetus had a normal XY karyotype. Like the index case, he had craniofacial edema and arthrogryposis, as well as epiphyseal stippling of cervical vertebrae, feet, and sacrum. Metacarpal bones were shortened with hypoplastic distal phalanges. Neuropathologic findings showed an agyric brain with hypoplastic brain stem and cerebellum, as well as severe neuronal loss of the cortical plate, matrix zone, basal ganglia, brainstem nuclei, and spinal cord with axonal swelling and microcalcification. Attia-Sobol et al. (2001) suggested that the disorder in this family is a new type III lissencephaly syndrome because of epiphyseal calcifications and metacarpal phalangeal bone dysplasia. The possibility of close linkage of 2 recessive disorders and pleiotropism involving a single mutant gene is not resolvable in this family.
Neuro \- Primary central nervous system degeneration \- Fetal akinesia sequence (FAS) \- Cerebral malformations \- Corpus callosum agenesis \- Vermis agenesis Inheritance \- Autosomal recessive Joints \- Severe arthrogryposis Misc \- Polyhydramnios Lab \- Smooth brain \- Hypoplastic brain stem \- Cystic cerebellum \- Large ventricles \- Bilateral multicystic periventricular lesions extending to the basal ganglia \- Severe neuronal loss Lung \- Pulmonary hypoplasia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
LISSENCEPHALY TYPE III AND BONE DYSPLASIA
|
c1832678
| 26,041 |
omim
|
https://www.omim.org/entry/601160
| 2019-09-22T16:15:29 |
{"mesh": ["C563383"], "omim": ["601160"], "orphanet": ["86822"], "synonyms": []}
|
Dahlberg et al. (1983) described 2 adult brothers with congenital lymphedema, hypoparathyroidism, nephropathy, mitral valve prolapse and brachytelephalangy. The older sib was found to have bilateral cataracts on routine examination at age 19 years. Swelling of his arms and legs, noted soon after his birth, increased after he began walking. Progressive renal failure necessitated renal transplantation at age 26 years. The brother had similar findings. Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see 265300) was suspected on the basis of radiologic findings. The mode of inheritance is not clear but includes autosomal recessive and X-linked recessive inheritance.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Eyes \- Cataracts \- Ptosis \- Telecanthus Nose \- Broad nasal bridge CARDIOVASCULAR Heart \- Mitral valve prolapse RESPIRATORY Lung \- Restrictive lung disease \- Pulmonary lymphangiectasia GENITOURINARY Kidneys \- Nephropathy \- Renal failure SKELETAL Limbs \- Increased carrying angle Hands \- Brachydactyly SKIN, NAILS, & HAIR Skin \- Lymphedema Hair \- Hypertrichosis (face and forehead) ENDOCRINE FEATURES \- Hypoparathyroidism ▲ 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
|
LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
|
c1855477
| 26,042 |
omim
|
https://www.omim.org/entry/247410
| 2019-09-22T16:25:46 |
{"mesh": ["C535769"], "omim": ["247410"], "orphanet": ["1563"], "synonyms": ["Alternative titles", "HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME"]}
|
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-67 (EIEE67) is caused by heterozygous mutation in the CUX2 gene (610648) on chromosome 12q23.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clinical Features
Chatron et al. (2018) reported 6 patients with EIEE67 and reviewed 3 previously reported patients (Epi4K Consortium and Epilepsy Phenome/Genome Project, 2013, Rauch et al., 2012, Geisheker et al. (2017)). Seven patients had onset of seizures within the first 7 months of life. Seizure types varied, but included focal, myoclonic, absence and atypical absence, tonic, atonic, and generalized tonic-clonic. At onset, the seizures tended to be frequent with multiple seizures per day. EEG was abnormal in all individuals, most frequently showing generalized spike-wave or polyspike-wave patterns, but focal discharges, multifocal discharges, hypsarrhythmia, and focal slowing were observed in some patients. The seizures in most patients were refractory to medication. Two patients (patient 9, who was previously reported by Geisheker et al. (2017), and patient 5) had a somewhat milder seizure course, which Chatron et al. (2018) stated was more consistent with a developmental encephalopathy. Both were 14 years of age at the time of the report, and they had onset of absence seizures at 9 months and 12 years, respectively. Patient 5 had nonconvulsive status epilepticus and patient 9 was seizure free from age 12 years. Additional more variable features among all patients included developmental regression (2 patients), movement disorders, such as stereotypic movements, hand flapping, dyskinesia, and athetosis (5 patients), as well as autistic features (2 patients). Brain imaging was normal in 6 patients, but showed cerebellar atrophy, hippocampal asymmetry, and thin corpus callosum in 1 patient each. All patients had severe intellectual disability, and 7 were nonverbal.
Barington et al. (2018) reported a 17-year-old Danish girl who developed myoclonic and generalized seizures at 12 months of age. She had previously been noted to have delayed development with lack of eye contact and poor head control at age 6 months. She had moderate to severe intellectual disability and autism, absent language, hypersalivation, and chronic constipation. She also had delayed motor development with a rigid movement pattern, stereotypic movements, and toe-walking. Antiepileptic treatment resulted in the reduction of seizure frequency, and the treatment was discontinued at 13 years of age with only occasional relapses.
Molecular Genetics
In 9 unrelated patients with EIEE67, Chatron et al. (2018) identified the same de novo heterozygous E590K mutation in the CUX2 gene (610648.0001). Three of the patients had previously been reported. The mutation was found by exome sequencing and was not found in the ExAC/gnomAD databases. Functional studies of the variant and studies of patient cells were not performed.
In a Danish girl with EIEE67, Barington et al. (2018) identified a de novo heterozygous E590K mutation in the CUX2 gene. The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Poor eye contact NEUROLOGIC Central Nervous System \- Epileptic encephalopathy \- Developmental encephalopathy \- Global developmental delay \- Impaired intellectual development, severe to profound \- Seizures, multiple types \- Myoclonic seizures \- Absence seizures \- EEG abnormalities \- Generalized spike-wave \- Polyspike-wave patterns \- Focal discharges \- Multifocal discharges \- Hypsarrhythmia (in some patients) \- Absence of speech \- Abnormal movements \- Dyskinesia \- Athetosis \- Abnormal gait Behavioral Psychiatric Manifestations \- Stereotypic movements \- Autistic features (in some patients) MISCELLANEOUS \- Onset in infancy \- Later onset of seizures in childhood may occur in some patients \- Seizure frequency may decrease with age \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the CUT-like homeobox 2 gene (CUX2, 610648.0001 ) ▲ 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
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
|
c0238111
| 26,043 |
omim
|
https://www.omim.org/entry/618141
| 2019-09-22T15:43:32 |
{"mesh": ["D065768"], "omim": ["618141"], "orphanet": ["2382"]}
|
Mirror-touch synesthesia is a rare condition which causes individuals to experience a similar sensation in the same part or opposite part of the body (such as touch) that another person feels. For example, if someone with this condition were to observe someone touching their cheek, they would feel the same sensation on their own cheek. Synesthesia, in general, is described as a condition in which a stimulus causes an individual to experience an additional sensation.[1] Synesthesia is usually a developmental condition; however, recent research has shown that mirror touch synesthesia can be acquired after sensory loss following amputation.[2]
The severity of the condition varies from person to person. Some individuals have intense physical synesthetic responses to any physical touch they see,[3] while others describe their experiences as feeling an "echo" of the touch that they see.[4] This appears to be comparable to the projective versus associative distinctions found in other forms of synesthesia. In addition, some mirror-touch synesthetes feel the phenomenon only in response to other humans being touched, while others also perceive it when animals or even inanimate objects are being touched.[5]
Mirror-touch synesthesia is found in approximately 1.6–2.5% of the general population.[6] Mirror-touch synesthetes have higher levels of affective and pain empathy than those without the condition, though cognitive empathy differs from person to person.[7] Their emotional experience of the observed touch may differ from the emotional experience of the person being touched (a pleasant touch may be perceived as unpleasant or vice versa). Mirror-touch synesthesia may also co-occur with autism spectrum disorders.[5]
## Contents
* 1 Introduction
* 2 Reported cases
* 2.1 Acquired cases
* 3 Possible mechanisms
* 3.1 Non-synesthetic subjects
* 3.2 In mirror-touch synesthetes
* 4 Verifying its presence in research studies
* 5 Link to empathy
* 6 References
## Introduction[edit]
Three conditions must be met in order to confirm the presence of mirror touch synesthesia.
1. The synaesthetic response, which is defined as the sensation synesthetes feel after observing someone else being touched, should feel like conscious experiences.
2. Synesthetic responses have to be induced by a stimulus that normally does not induce that response.
3. The synesthetic experiences must occur automatically, without conscious thought.
In order to examine the prevalence of this condition, a study was conducted at the University College London and University of Sussex. 567 undergraduate participants were recruited and given a questionnaire. From the questionnaire, it was determined that approximately 2.5% of the population experienced mirror-touch synesthesia symptoms. Further studies have shown the prevalence to be 1.6%, meaning that this condition is one of the more common types of synesthesia, along with grapheme-color synesthesia (1.4%) and day-color synesthesia (2.8%).[6] At the moment it is believed that there are two subtypes of the condition. The first type causes a person to feel sensations on the part of their body that mirrors the observed touch. The second type causes a person to feel sensations on the same side of their body as the observed touch.[8]
Studies have attempted to more explicitly define the intensity of synesthetic responses. In most studies, participants are asked to observe someone else being touched and report what kind of synesthetic response they experience. In one particular instance, video clips were used to show different types of observed touch. The intensity of the synesthetic touch is not affected by the location of the observed touch (arm, leg, hand, etc.); however, it is sometimes affected by the spatial orientation of the observed touch. When crossed hands are touched, the hands become uncrossed in the perception of synesthetes. However when the observed hand is upside down, the observed touch does not get rotated. Intensity is also not affected if the observed act consists of someone touching themselves, versus someone touching them. Additionally, the type of object doing the touching has a significant effect on the intensity of the response. If a finger or knife tip is used, a much higher intensity is experienced than if a feather is used. Finally, watching a dummy being touched decreases the intensity of the observed touch significantly. For this reason, it is suspected that in order to experience a synesthetic touch, synesthetes must observe somebody who is capable of feeling sensations.[9]
Mirror touch responses are not limited to feeling touch. Mirror touch synesthetes have a higher ability to feel empathy than non-synesthetes, and can therefore feel the same emotions that someone else may be observed to feel.[7] Additionally, some individuals experience pain when observing someone else in pain, and this is a condition usually developed from birth. Approximately 30% of the normal population experience some form of this condition and around 16% of amputees report synesthetic pain after an amputation. This condition can either be acquired or developed. In the congenital condition, synesthetes experience pain in the same location as the observed pain; however, in the acquired condition, high intensity pain is felt at the same location as the trauma.[10]
## Reported cases[edit]
The first reported case of mirror touch synesthesia occurred in 2005 in a patient called C. When observing someone else being touched, she would also experience the same touch on her body. Although she had experienced this sensation for her whole life, she did not realize that it was abnormal until reporting it to someone else. She was an otherwise healthy individual. After realizing that her perception was abnormal, she realized that her first cousin, also a female, also has mirror touch synesthesia, suggesting that it could be genetic.[11]
### Acquired cases[edit]
A male patient, named D.N. suffered a stroke and experienced paralysis along with loss of sensation on the left side of his body. If stimuli were hidden from his view, he could feel no sensation. However, when he could visualize stimuli, he would be able to feel it. Even if D.N. believed that he was being touched, he would feel the stimuli. An experiment was conducted on him where he watched a video of his left arm being touched and was told that it was a real time video of his left arm being touched. Although nobody actually touched him, D.N. still experienced sensations where he saw his arm being stimulated in the video.[11]
It has been suggested that symptoms of mirror-touch synesthesia can occur in amputees. 98% of amputees report phantom sensations in their amputated limb, and one of the studied treatments for phantom limb pain has involved a mirror box. In this treatment, the amputee places their good arm into a mirror box, allowing the image of the arm to reflect where the amputated arm normally would be. When touch is applied to the good arm, amputees have reported corresponding sensations in their phantom limb. These cases can be considered mirror-touch synesthesia because a visual stimulus was able to elicit a tactile sensation. Studies have looked further into determining whether amputees actually experience mirror touch synesthesia. Four amputees were recruited in a study and asked to observe an assistant's arm being touched at various angles. 61 out of the 64 trials experienced mirror-touch sensations, and when the arm was wiggled, the sensations were enhanced. Finally, one amputee experienced a cold sensation when observing ice cubes touching the assistant's arm. Although there is evidence that mirror-touch synesthesia occurs in amputees, recent data has been inconclusive.[2]
## Possible mechanisms[edit]
### Non-synesthetic subjects[edit]
In most people, several parts of the brain are activated when observing touch, particularly in the motor system. Mirror neurons play a role in helping perceive action. Studies in monkeys have shown that mirror neurons in the ventral premotor cortex fire both when monkeys perform tasks and when monkeys see other monkeys performing the same task. Although the discovery of mirror neurons was made in monkeys recent studies have suggested that a similar mirror system functions in humans. Furthermore, it has been shown that the mirror system is selective only for biological actions. When observing another human grasping an object, there is an increase in premotor cortex activation. However, when seeing a robot grasping an object, there is no such increase.[11]
The following is a list of regions where increased activation was seen:
* Premotor cortex
* Insular cortex
* Superior temporal sulcus
* Fusiform gyrus
* Bilateral S1
* Bilateral S2
The fusiform gyrus, bilateral SI and SII, premotor cortex, and superior temporal sulcus is generally activated when observing touch to another person's head or neck. In particular, the visual presentation of faces activates the fusiform gyrus and superior temporal sulcus. As in the premotor cortex, activation in these areas is higher when observing biological actions, or actions performed by another human. Activation in S1 was organized somatotopically, meaning organized according to which part of the body was being touched. Finally, when observing touch to the left side of a human face or neck, the right SI is activated, and when observing touch to the right side of a human face or neck, the left SI is activated.[11]
### In mirror-touch synesthetes[edit]
There are three main theories for the presence of mirror-touch synesthesia. The first theory states that the somatosensory mirror system, which modulates observed touch and felt touch, has activations that are below a particular threshold in normal people. When the activations are below this threshold, a person can perceive and understand the observed touch. It is suggested that mirror touch synesthesia occurs when this threshold is exceeded. This results in synesthetes believing that the touch actually occurs on their own body. Most data support this theory. In general, activations in SI and SII are significantly higher in synesthetes than in non-synesthetes. There is also a significantly higher activation in the premotor cortex. It is also suspected that there is an area of the brain that is only activated in mirror-touch synesthetes when observing touch, but not in non-synesthetes. Studies have shown that the anterior insula is actuated in mirror touch synesthetes, but it is not activated in non-synesthetes, when observing touch. The anterior insula is believed to mediate the conscious perception of touch and is involved with self-processing.[11]
The second theory proposes that the visual and somatosensory system in people with mirror touch synesthesia are directly connected in such a way that is unique to these synesthetes. If this is true, then it would not be accurate to say that the same mechanisms involved in mirror-touch synesthesia are utilized in non-synesthetes. The third theory involves bimodal cells in the parietal cortex, specifically in the intraparietal sulcus. It is suggested that, when observing touch, bimodal cells for visual and tactile stimuli are activated above a certain threshold.[11]
## Verifying its presence in research studies[edit]
Most studies on mirror touch synesthesia verify the existence of the condition through a variety of methods. One way is through a sensory interference task. In these tasks, participants are touched on their left cheek, right cheek, or not at all, and asked to observe an assistant being touched. In congruent studies, the assistant is touched at the same location that the participant is touched. In incongruent studies, the participants are touched in areas different from those of the assistant. Subjects are then asked to report where they feel the sensation. For some participants, if the observed touch occurs on the right cheek, they feel a synesthetic touch on their left cheek, and this is called specular correspondence. If the synesthetic touch is felt on their right cheek, it is called anatomical correspondence. Most instances of mirror touch synesthesia include specular correspondence.[9] The rate of errors is calculated, and it is expected that a higher rate of error should occur in synesthetic subjects in comparison to non-synesthetic subjects.[7]
## Link to empathy[edit]
Studies have hypothesized that empathy is experienced by a process of simulation. When we see someone feeling happy, the same neural circuits used to make them feel happy are activated in our brain. Since mirror touch synesthetes have heightened activation of mirror systems, it seemed likely that they would also experience higher empathy, and this has been confirmed. Mirror touch synesthetes experience more empathy than non-synesthetes. This was determined using the empathy quotient, which has three main scales: cognitive empathy, emotional reactivity, and social skills. Mirror touch synesthetes showed significantly higher empathy quotient scores in emotional reactivity than in controls. However synesthetes did not show higher scores in cognitive empathy and social skills. Thus empathy is multifaceted, and the tactile mirror system may not be fully responsible for the ability to empathize.[7]
Other ways of investigating the role of the mirror neuron system in empathy have been through pain and disgust.[12] With regard to pain, when painful stimuli are applied to subjects' hands, neurons in the anterior cingulate cortex fired. Similarly, when observing painful stimuli being applied to someone else's hands, the same neurons fired. The anterior cingulate cortex was also activated when observing people who would be painfully stimulated at a later time. Therefore, brain areas responsible for responding to pain are activated while experiencing pain, observing someone else experience pain, and observing someone else who would experience pain at a later point.[13] The insula, which is activated after a person experiences disgust, is also activated when observing faces expressing disgust, and the intensity of the interaction is directly proportional to the level of disgust on the observed face. Finally, the inability to experience emotions leads to impairment of the ability to recognize the same emotions in others. Patients with brain injuries preventing them from experiencing disgust couldn't recognize disgust in the faces of others.[12]
## References[edit]
1. ^ Banissy, M.J. (2009). "Prevalence, Characteristics, and a Neurocognitive Model of Mirror Touch Synesthesia". Experimental Brain Research. 192 (2): 261–272. doi:10.1007/s00221-009-1810-9. PMID 19412699.
2. ^ a b Goller, A.I. (2013). "Mirror Touch Synesthaesia in the Phantom Limbs of Amputees". Cortex. 49 (1): 243–251. doi:10.1016/j.cortex.2011.05.002. PMID 22981809.
3. ^ "Entanglement". NPR.org. Retrieved 2018-03-23.
4. ^ "The neurologist with mirror-touch synesthesia". 2015-09-13. Retrieved 2018-03-23.
5. ^ a b Baron-Cohen, S., Robson, E., Lai, M.-C., & Allison, C. (2016). Mirror-Touch Synaesthesia Is Not Associated with Heightened Empathy, and Can Occur with Autism. PLoS ONE, 11(8), e0160543. http://doi.org/10.1371/journal.pone.0160543
6. ^ a b Banissy, Michael J. (December 2013). "Synesthesia, Mirror Neurons, and Mirror-Touch". In Simner, Julia; Hubbard, Edward (eds.). Oxford Handbook of Synesthesia. doi:10.1093/oxfordhb/9780199603329.013.0030.
7. ^ a b c d Banissy, Michael; Jamie Ward (July 2007). "Mirror Touch Synaesthesia is Linked with Empathy". Nature Neuroscience. 10 (7): 815–816. doi:10.1038/nn1926. PMID 17572672.
8. ^ Banissy, M.J. (2013). "Mechanisms of Self-Other Representations and Vicarious Experiences of Touch in Mirror Touch Synesthesia". Frontiers in Human Neuroscience. 112 (7): 112. doi:10.3389/fnhum.2013.00112. PMC 3615185. PMID 23565086.
9. ^ a b Holle, Henning; Michael Banissy; Thomas Wright; Natalie Bowling; Jamie Ward (September 2011). ""That's not a real body": Identifying stimulus qualities that modulate synaesthetic experiences of touch". Consciousness and Cognition. 20 (3): 720–726. doi:10.1016/j.concog.2010.12.002. PMID 21237676.
10. ^ Fitzgibbon, BM; Enticott PG (2012). "Enhanced Corticospinal Response to Observed Pain in Pain Synesthetes". Cognitive, Affective, & Behavioral Neuroscience. 2 (12): 406–418. doi:10.3758/s13415-011-0080-8. PMID 22201037.
11. ^ a b c d e f Blakemore, SJ; D. Bristow; G. Bird; C. Frith; J.Ward (2005). "Somatosensory Activations During the Observation of Touch and a Case of Vision-Touch Synaesthesia". Brain. 128 (28): 1571–1583. doi:10.1093/brain/awh500. PMID 15817510.
12. ^ a b Corradini, Antonella; Alessandro Antonietti (2013). "Mirror neurons and their function in cognitively understood empathy". Consciousness and Cognition. 22 (3): 1152–1161. doi:10.1016/j.concog.2013.03.003. PMID 23583460.
13. ^ Singer, T.; B. Seymur; J. O’Doherty; H. Kaube; R.J. Dolan; C.D. Frith (2004). "Empathy for pain involves the affective but not the sensory components of pain". Science. 1 (303): 1157–1162. Bibcode:2004Sci...303.1157S. doi:10.1126/science.1093535. hdl:21.11116/0000-0001-A020-5. PMID 14976305.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mirror-touch synesthesia
|
None
| 26,044 |
wikipedia
|
https://en.wikipedia.org/wiki/Mirror-touch_synesthesia
| 2021-01-18T18:51:43 |
{"wikidata": ["Q17157129"]}
|
Transient myeloproliferative disease
Other namesTransient abnormal myelopoiesis (TAM), transient leukemia, myeloid leukemia of Down syndrome
Transient myeloproliferative disease (TMD) occurs in a significant percentage of individuals born with the congenital genetic disorder, Down syndrome. It may occur in individuals who are not diagnosed with the syndrome but have some hematological cells containing genetic abnormalities that are similar to those found in Down syndrome. TMD usually develops in utero, is diagnosed prenatally or within ~3 months of birth, and thereafter resolves rapidly and spontaneously. However, during the prenatal-to-postnatal period, the disease may cause irreparable damage to various organs and in ~20% of individuals death. Moreover, ~10% of individuals diagnosed with TMD develop acute megakaryoblastic leukemia at some time during the 5 years following its resolution. TMD is a life-threatening, precancerous condition in fetuses[1] as well as infants in their first few months of life.[2]
Transient myeloproliferative disease involves the excessive proliferation of non-malignant megakaryoblasts. Megakaryoblasts are hematological precursor cells which mature to megakaryocytes. Megakaryocytes release platelets into the bloodstream. Platelets are critical for normal blood clotting.[3] In consequence of this mutation, megkaryoblasts fail to mature properly, accumulate in multiple organs, may damage these organs, and may become cancerous. The diseases also causes a reduction in the maturation of erythroblasts to circulating red blood cells and, consequently, mild anemia.[4]
Most individuals with TMD have clinical evidence of damage to various organs, particularly the liver, due to megakaryoblast infiltration, the accumulation of fluid in various tissue compartments, a bleeding tendency due to low levels of circulating platelets (i.e. thrombocytopenia), anemia due to reduced production of red blood cells, and/or other signs or symptoms of the disorder.[5] However, some individuals with transient myeloproliferative disease have a presumably small clone of rapidly proliferating megakaryoblasts with inactivating GATA1 mutations but no other signs or symptoms of the disease. This form of TMD is termed silent transient abnormal myelopoiesis (i.e. silent TAM). Silent TAM is of clinical significance because it, like symptomatic TMD, may progress to an acute megakaryoblastic leukemia. This progression occurs in ~10% of TMD cases at some time during the 4-5 following birth and is due to the acquisition by the rapidly proliferating megakaryoblast clones of oncogenic mutations in other genes.[2]
Chemotherapeutic regimens are used to treat individuals with TMD but only those who have life-threatening complications of the disease. It is not known if these regimens have an impact on the development of acute megakaryoblastic leukemia. Currently, it is recommended that individuals with TMD be followed medically for signs, symptoms, or laboratory evidence of its progression to this malignant disease with the notion that its early treatment may be of clinical benefit.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Before birth
* 1.2 After birth
* 1.2.1 Symptomatic disease
* 1.2.2 Silent disease
* 2 Genetics
* 2.1 Down syndrome
* 2.2 Transient myeloproliferative disease
* 2.3 Acute megakaryoblastic leukemia
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 History
* 8 See also
* 9 References
## Signs and symptoms[edit]
### Before birth[edit]
Transient myeloproliferative disease develops and may be of concern in fetuses. Features in a review of 39 reported fetal cases include: reduced platelet production often accompanied by significantly reduced levels of circulating platelets; reduced red blood cell production sometimes accompanied by mild anemia; increased levels of circulating megakaryoblasts and white blood cells; grossly enlarged liver and liver dysfunction due to an excessive accumulation of platelet precursor cells; enlarged spleen presumed due mostly to the portal hypertension accompanying liver disease with extramedullary hematopoiesis possibly contributing to the enlargement; accumulation of excessive fluid in bodily compartments such as the pericardial, pleural, abdomnal spaces; hydrops fetalis, i.e. the accumulation of excessive fluid in two or more bodily compartments; cardiomegaly and other cardiac abnormalities resulting form atrial septal defects, small ventricular septal defects, and/or, possibly, accumulation of megakaryocytes and secondary cardiac fibrosis.[1] Hydrops fetalis, when accompanied by liver dysfunction, is a particularly poor prognostic combination in TMD.[6]
### After birth[edit]
#### Symptomatic disease[edit]
Clinical features in a review of 3 studies reporting on a total of 329 cases of symptomatic TMD include: premature birth (33-47%); enlarged liver (55-62%); evidence of liver dysfunction (13-63%); enlarged spleen (36-44%); heart disease (47-71%); gastrointestinal abnormalities (1-25%); and fluid accumulations in lung, heart, and/or abdomen (16-21%). In other studies; 5% of cases were associated with a vesiculopapular eruption; 3-6% of cases were associated with kidney failure or insufficiency presumed due mostly to complications of cardiac and/or liver dysfunction; rare cases of lung dysfunction due primarily to its compression by a massively enlarged liver and/or fluid accumulations in the pleural space;[2] and rare cases of asymptomatic megakaryoblastic infiltration and secondary fibrosis in the pancreas.[5] Other reports find decreased levels circulating platelets in 50% of cases, abnormal blood clotting in 10-25% of cases, anemia in 5-10%, and increased levels of circulating white blood cells in 50% of cases. The incidence of all these features except for low levels of blood platelets are appreciably higher in TMD than in Down syndrome individuals that lack inactivating GATA1 mutations.[2] There are also uncommon instances of stillbirths and infant death within 24 hours of delivery.[1]
#### Silent disease[edit]
Silent TAM lacks almost all of the clinical features of TMD, i.e. newborns with this disease exhibit no signs or symptoms that differ from those found in Down syndrome individuals who lack inactivating GATA1 mutations. Silent TAM nonetheless carries the treat of progressing to AMKL with an incidence similar to that occurring in TMD.[2]
## Genetics[edit]
### Down syndrome[edit]
Main article: Down syndrome
Down syndrome is caused be the presence of an extra chromosome 21 (i.e. trisomy 21) due to a failure in normal chromosomal pairing or premature unpairing during the cell division of meiosis in egg or sperm cells. In these cases, virtually all cells in Down syndrome individuals bear an extra chromosome 21. However, there are other genetic changes that may either cause Down syndrome or cause an individual without Down syndrome to bear disease susceptibilities of the syndrome. These genetic changes include: a) genetic mosaicism in which some body cells bear a normal chromosome complement while others bear an extra chromosome 21; a) a part of chromosome 21 is located on another chromosome due to a Robertsonian translocation; b) partial trisomy 21 in which only part of chromosome 21 is duplicated; c) an isochromosome in which chromosome 21 contains two long but no short arms; and d) key genes on chromosome 21 are duplicated on this or other chromosomes.[7] These genetic changes do occur in rare cases of individuals who do not have Down syndrome but nonetheless develop transient myeloproliferative disease[8] due to the presence of extra copies of key genes normally found on chromosome 21 genes caused by mosaic, Robertsonian translocation, partial trisomy 21, isochromosome formation, or duplication.[5]
Down syndrome by itself (i.e. in the absence of GATA1 gene mutations) is a cause for numerous hematological abnormalities which are similar to those seen in TMD. These Down syndrome-related abnormalities include increased numbers of stem cell precursors to platelets and red blood cells, impaired maturation of these precursors to platelets and red blood cells, thrombocytopenia, abnormal bleeding, anemia, leukocytosis, and serious liver damage. Since TMD is restricted to individuals with Down syndrome or otherwise have an excess of key chromosome 21 genes, it is suggested that certain chromosome 21 genes that are in triplicate and cause these hematological disorders in Down syndrome are essential for the development of GATA1 inactivating mutations and thereby TMD. These genes include ERG, a potentially cancer-causing oncogene that codes for a transcription factor; DYRK1A, which codes for a protein kinase type of enzyme involved in promoting cellular proliferation; and RUNX1, which codes for a transcription factor that regulates the maturation of hematological stem cells and, when mutated, is involved in the development of various myeloid neoplasms.[2]
### Transient myeloproliferative disease[edit]
The human GATA1 gene is located on the short (i.e. "p") arm of the X chromosome[9] at position 11.23.[10] It is 7.74 kilobases in length, consists of 6 exons, and codes for a full length protein, GATA1, of 414 amino acids (atomic mass=50 kilodaltons) and a shorter protein, GATA1-S (also termed GATA1s). GATA1-S lacks the first 83 amino acids of GATA1 and consists of 331 amino acids (atomic mass = 40 kilodaltons).[11] GATA1 and GATA1-S are transcription factors, i.e. nuclear proteins that regulate the expression of genes.[9] The genes targeted by these two transcription factors help control the maturation of megakaryoblasts and promegakaryocytes to platelet-forming megakaryocytes[11] and the maturation of erythroblasts to red blood cells.[12] GATA1-S is less active than GATA1 in controlling most of these genes including those that stimulate megakaryoblast maturation but appears more effective than GATA1 in stimulating megakaryoblast proliferation.[11] Outside of the Down syndrome (or a triplication in key chromosome 21 genes), GATA1 inactivating mutations cause or contribute to various non-malignant X-linked bleeding and anemic disorders that are due to failures in the maturation of precursor cells to platelets and red blood cells.[4]
The GATA1 mutations in Down syndrome cause TMD. They occur in exon 2 or 3 of the gene and are truncating mutations that result in the gene's exclusive formation of GATA1-S, i.e. the gene makes no GATA1.[11] Some 20% of individuals with Down syndrome bear one truncating mutation although some may bear up to 5 different truncating mutations and therefore have 5 different GATA1 mutant clones. These mutations occur in utero and can be detected in fetuses of 21 weeks gestational age. In the absence of GATA1, the GATA1-S transcription factor increases the proliferation but not maturation of megakaryoblasts[4] and is insufficient to support the normal maturation of red blood cell precursors.[13] Consequently, fetuses[1] and, during their first few months of live, infants[2] with these mutations exhibit extensive accumulations of immature megakaryoblasts in fetal blood-forming organs (particularly liver and bone marrow) and decreases in circulating platelet counts; they may also exhibit modest reductions in circulating red blood cells; and they may exhibit severe injuries in various organs. In ~80% of individuals, hematological changes resolve completely within ~3 months although organ injuries, particularly those to the liver, may take months or even years to fully resolve. During this resolution period, GATA1 mutations become undetectable. However, the original mutations are again detected in the acute megakaryoblastic leukemia cells indicating that the GATA1 mutations causing TMD decrease to undetectable levels as TMD resolves but, at least in cases that progress to AMKL, persist in a tiny clone of megakaryoblasts that evolve into the malignant cells of AMKL. In most cases, this evolution occurs over 1–5 years but in ~20% of cases the in utero[1] or postnatal disease[3] is severe, prolonged, and/or fatal or progresses to AMKL without exhibiting a resolution phase.[citation needed]
The GATA1 gene also regulates the maturation of eosinophils and dendritic cells. Its impact on the former cell type may underlie the increase in circulating blood eosinophils in TMD.[12]
### Acute megakaryoblastic leukemia[edit]
Main article: Acute megakaryoblastic leukemia
TMD may be followed within weeks to ~5 years by a subtype of myeloid leukemia, acute megakaryoblastic leukemia. AMKL is extremely rare in adults. The childhood disease is classified into two major subgroups based on its occurrence in individuals with or without Down syndrome. The disease in Down syndrome occurs in ~10% of individuals who previously had TMD.[14] During the interval between TMD and the onset of AMKL, individuals accumulate multiple somatic mutations in cells that bear an inactivating GATA1 mutation plus trisomy 21 (or the presence of extra chromosome 21 genes involved in the development of TMD). These mutations are thought to result from the uncontrolled proliferation of blast cells caused by the GATAT1 mutation in the presence of trisomy 21 (or the presence of extra chromosome 21 genes involved in the development of TMD) and to be responsible for progression of the transient disorder to AMKL. The mutations occur in one or more genes including: TP53, FLT3, ERG, DYRK1A, CHAF1B, HLCS, RUNX1, MIR125B2 (which is the gene for microRNA MiR125B2CTCF,[3] STAG2, RAD21, SMC3, SMC1A, NIPBL, SUZ12, PRC2, JAK1, JAK2, JAK3, MPL, KRAS, NRAS, and SH2B3.[14]
## Pathophysiology[edit]
The development and progression of TMD result from collaborations between various genes: 1) during fetal development, an immature megakaryoblast which has extra copies of key genes located on chromosome 21 (e.g. ERG, DYKR1A, and/or RUNX1) acquires an inactivating mutation in GATA1 that causes it to make only GATA1-S; 2) this cell(s) grows into a genetically identical group, i.e. a clone, of non-malignant megakaryoblasts which proliferate excessively, fail to mature normally, and over-populate fetal blood-forming organisms, particularly the liver and bone marrow, thereby establishing TMD; 3) most cells in this clone are still genetically programmed to die during the ensuing fetal and early postnatal period thereby resolving TMD; 4) some cells in this GATA1-mutant clone escape the death program although their numbers are too low for detection by currant methods; 5) in ~10% of TMD cases, the surviving cells from the GATA1 mutant clone undergo an evolution to cancer, i.e. they acquire mutations in other genes (see preceding section) which causes at least one of them to be malignant, immortal, and rapidly proliferating thereby founding a clone of megakaryoblasts that have the original GATA1 mutation, extra chromosome 21 genes, and one or more one of the newly acquired oncogenic gene mutations; and 6) the cells in this malignant clone infiltrate, accumulate in, and injure various organs and tissues thereby establishing AMKL.[2][7] These stages in the development and progression of TMD may involve up to 5 different GATA1 gene mutations in different megakaryoblasts and therefore result in the evolution of up to 5 different GATA1-mutant clones, at least one of which may found the malignant clone involved in AMKL.[4]
The severity of transient myeloproliferative disease appears to depend on the size of the GATA1 mutant clone. It is likely, for example, that the lack of clinical features in silent TAM is a reflection of the small sized of its mutant GATA1 clone.[2]
The liver of TMD-individuals accumulate abnormally high numbers of platelet and to a lesser extent red blood cell precursors. The liver, it is suggested, may be the primary site for excessive proliferation of the GATA1 mutant clone(s) of platelet precursor cells, primarily megakaryobllasts and the accumulation of these precursor cells along to red blood cell precursor cells appears to be an important cause of the liver enlargement and dysfunction occurring in TMD.[14]
TMD is associated with fibrosis (i.e. replacement of normal tissue with fibrous tissue) in the liver. This fibrosis may be severe and even life-threatening.[15] Based primarily on mouse[16] and isolated human cell studies,[17] this myelofibrosis is thought to result from the excessive accumulation of mutant GATA1-bearing platelet precursor cells in these organs: the precursor cells make and release abnormally large amounts of cytokines (platelet-derived growth factor; transforming growth factor beta 1) which stimulate tissue stromal cells to become fiber-secreting fibroblasts.
## Diagnosis[edit]
Fetuses[1] and newborns[2] with Down syndrome without GATA1 inactivating mutations have numerous hematological abnormalities some of which are similar to those in TMD including increased numbers of circulating blasts, decreased numbers of circulating platelets and red blood cells, and increased numbers of circulating white blood cells. Also like TMD, these Down syndrome (no GATA1 mutation) individuals exhibit hepatomegaly, abnormal liver function tests, and jaundice. However, these abnormalities are usually more frequent and/or severe in TMD. Furthermore, enlarged spleen, fluid accumulations in body cavities, and leukemia cutis (i.e. a rash due to the infiltration of platelet precursor cells into the skin) occur in ~30, 9, and 5%, respectively, of TMD cases but are rarely observed in individuals with Down syndrome (no GATA1 mutation). The blood of individuals with TMD may contain grossly malformed blast cells, giant platelets, and fragments of megakaryocytes which are rarely seen in individuals with Down syndrome (no GATA1 mutation). Bone marrow examination reveals increases in blast cells in essentially all cases of TMED, increased fibrosis in a small but significant percentage of cases, defective maturation of platelet precursors in ~75% of cases, and defective maturation of red blood cell precursors in 25% of cases. These abnormalities are generally more extreme that those seen in Down syndrome (no GATA1 mutation). The overall constellation of abnormalities found in TMD often suggest its diagnosis.[5]
In all individuals suspected of having the symptomatic or silent disease, the diagnosis of TMD requires demonstrating the presence, in the platelet precursor cells of blood, bone marrow, or liver, of GATA1 mutations that are projected to cause the gene to make GATA1-S but not GATAA1 transcription factors. Since these mutations are limited to a clone(s) of platelet precursor cells which may represent only a small fraction of all platelet precursor cells, high-throughput DNA sequencing methods are required to detect many cases of the disease, particularly in silent TAM cases which may have only a small number of platelet precursors with the mutation.[2] The in utero diagnosis of fetal TMD depends on medical ultrasound scanning to detect fluid accumulations in body cavities, cardiac abnormalities (particularly atrial septal defects), organ enlargements (particularly of the liver, spleen, or heart), fetal size, and fetal movements. Blood samples are obtained from the fetal umbilical cord to determine blood cell counts, measure blood enzymes to evaluate liver function, and the presence in circulating platelet precursor cells of GATA1 mutations that are associated with TMD.[1]
## Treatment[edit]
Since 80 to 90% of newborns with transient myeloproliferative disease recover within ~3 months (organ enlargement make take longer to resolve), treatment is generally restricted to cases with life-threatening complications. These complications include severe: a) hydrops fetalis; b) increases in circulating white blood cells (e.g. >10-fold elevations) that can lead to a blood disorder termed the hyperviscosity syndrome; c) bleeding due to disseminated intravascular coagulation or, less commonly, reduced levels of circulating platelet; d) liver dysfunction; or e)cardiac dysfunction. There have been no large controlled studies published on treatment but several small studies report that low dose cytarabine, a chemotherapeutic drug, has beneficial effects in these cases. High dose cytarabine, however, has been found to be highly toxic in infants with TMD; it is recommended that these dosages be avoided in TMD. The goal of low dose cytarabine in TMD is to reduce the load but not eradicate platelet precursors in tissues and/or circulating megakaryoblasts or, in cases of extreme leukocytosis, white blood cells, particularly since none of these cells are malignant.[2][5] There is insufficient data to indicate the value of therapy in prenatal cases. Supportive fetal therapy consisting of repeated ub utero transfusion of packed red blood cells and platelet concentrates has been reported to reduce the proportion of circulating blast cell, reduce fluid accumulations in fetal cavities, and reduce the size of an enlarged liver; preterm induction of delivery has also been used in infants with fetal distress. However, further studies are required to determine the clinical usefulness of these and other interventions in prenatal TMD. The Cochrane Organization rated the quality of evidence for these fetal interventions as very low.[1]
Experts suggest that individuals with symptomatic or silent TMD be followed medically for signs and/or symptoms of the disease's progression to AMKL. This includes physical examinations to measure liver and spleen size as well as complete blood counts to measure the levels of circulating platelets, erythrocytes, white blood cells, and platelet precursor cells. Recommendations for the frequency of these measurements vary from every 3 to 12 months.[2] A complex drug regimen that includes high dose cytarabine[18] has shown good results in treating AMKL.[2]
## Prognosis[edit]
Overall mortality during the first year as reported in three studies (all of which included individuals treated for their TMD), range between 15 and 21% in TMD and between 4 and 12% in Downs syndrome (no GATA1 mutation). Virtually all of the deaths occurring in TMD happened within the first 6 months. Risk factors that increased mortality in TMD were prematurity, extremely elevated circulating blast and/or white blood cells, hepatic dysfunction, ascites (i.e. fluid in the abdominal cavity), excessive bleeding and/or blood clotting, and kidney dysfunction.[5] About 10% of all TMD cases, including those with silent disease, will progress to AMKL at some time during the first 5 years after birth. AMKL associated with Downs syndrome is far less severe a disease that AMKL not associated with the syndrome. Event free survival and overall survival (studies include chemotherapy-treated cases) during the 5 years following its diagnosis in Down syndrome children with AMKL is ~80%; it is 43% and 49%, respectively, in children with AMKL who do not have Down syndrome. Median survival in adult AMKL is only 10.4 months.[4]
## History[edit]
TMD was first described and termed congenial leukemia by Bernard and colleagues in a 1951 publication.[19] It was defined to be limited to individuals with Down Syndrome and to be spontaneously regressing in 1954,[20] and thereafter reported to progress to a leukemia in two reports, the first published in 1957[21] and the second published in 1964.[22] Respective reports by D. Lewis in 1981[23] and Bennett et al in 1985[24] indicated that the blast cells involved in TMD and its leukemic sequel were platelet precursor cells. Studies by J.D. Crispino and colleagues in 2002[25] and 2003[26] showed that GATA1 mutations were respectively involved in TMD and AMKL.
## See also[edit]
* Acute myeloid leukemia
## References[edit]
1. ^ a b c d e f g h Tamblyn JA, Norton A, Spurgeon L, Donovan V, Bedford Russell A, Bonnici J, Perkins K, Vyas P, Roberts I, Kilby MD (January 2016). "Prenatal therapy in transient abnormal myelopoiesis: a systematic review". Archives of Disease in Childhood: Fetal and Neonatal Edition. 101 (1): F67–71. doi:10.1136/archdischild-2014-308004. PMID 25956670. S2CID 5958598.
2. ^ a b c d e f g h i j k l m n o Bhatnagar N, Nizery L, Tunstall O, Vyas P, Roberts I (October 2016). "Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update". Current Hematologic Malignancy Reports. 11 (5): 333–41. doi:10.1007/s11899-016-0338-x. PMC 5031718. PMID 27510823.
3. ^ a b c Seewald L, Taub JW, Maloney KW, McCabe ER (September 2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885.
4. ^ a b c d e Crispino JD, Horwitz MS (April 2017). "GATA factor mutations in hematologic disease". Blood. 129 (15): 2103–2110. doi:10.1182/blood-2016-09-687889. PMC 5391620. PMID 28179280.
5. ^ a b c d e f Gamis AS, Smith FO (November 2012). "Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder". British Journal of Haematology. 159 (3): 277–87. doi:10.1111/bjh.12041. PMID 22966823. S2CID 37593917.
6. ^ Traisrisilp K, Charoenkwan P, Tongprasert F, Srisupundit K, Tongsong T (October 2016). "Hemodynamic assessment of hydrops foetalis secondary to transient myeloproliferative disorder associated with foetal Down syndrome: A case report and literature review". Journal of Obstetrics and Gynaecology. 36 (7): 861–864. doi:10.1080/01443615.2016.1174833. PMID 27612526. S2CID 26001927.
7. ^ a b Marshall GM, Carter DR, Cheung BB, Liu T, Mateos MK, Meyerowitz JG, Weiss WA (April 2014). "The prenatal origins of cancer". Nature Reviews. Cancer. 14 (4): 277–89. doi:10.1038/nrc3679. PMC 4041218. PMID 24599217.
8. ^ Rozen L, Huybrechts S, Dedeken L, Heijmans C, Dessars B, Heimann P, Lambert F, Noubouossie DF, Ferster A, Demulder A (December 2014). "Transient leukemia in a newborn without Down syndrome: case report and review of the literature". European Journal of Pediatrics. 173 (12): 1643–7. doi:10.1007/s00431-013-2163-8. PMID 24253371. S2CID 281098.
9. ^ a b Shimizu R, Yamamoto M (August 2016). "GATA-related hematologic disorders". Experimental Hematology. 44 (8): 696–705. doi:10.1016/j.exphem.2016.05.010. PMID 27235756.
10. ^ "GATA1 GATA binding protein 1 [Homo sapiens (human)] - Gene - NCBI".
11. ^ a b c d Fujiwara T (June 2017). "GATA Transcription Factors: Basic Principles and Related Human Disorders". The Tohoku Journal of Experimental Medicine. 242 (2): 83–91. doi:10.1620/tjem.242.83. PMID 28566565.
12. ^ a b Katsumura KR, DeVilbiss AW, Pope NJ, Johnson KD, Bresnick EH (September 2013). "Transcriptional mechanisms underlying hemoglobin synthesis". Cold Spring Harbor Perspectives in Medicine. 3 (9): a015412. doi:10.1101/cshperspect.a015412. PMC 3753722. PMID 23838521.
13. ^ Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW (October 2017). "Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience". European Journal of Medical Genetics. 61 (11): 664–673. doi:10.1016/j.ejmg.2017.10.017. PMID 29081386.
14. ^ a b c Gruber TA, Downing JR (August 2015). "The biology of pediatric acute megakaryoblastic leukemia". Blood. 126 (8): 943–9. doi:10.1182/blood-2015-05-567859. PMC 4551356. PMID 26186939.
15. ^ Zipursky A, Brown EJ, Christensen H, Doyle J (March 1999). "Transient myeloproliferative disorder (transient leukemia) and hematologic manifestations of Down syndrome". Clinics in Laboratory Medicine. 19 (1): 157–67, vii. doi:10.1016/S0272-2712(18)30133-1. PMID 10403079.
16. ^ Verrucci M, Pancrazzi A, Aracil M, Martelli F, Guglielmelli P, Zingariello M, Ghinassi B, D'Amore E, Jimeno J, Vannucchi AM, Migliaccio AR (November 2010). "CXCR4-independent rescue of the myeloproliferative defect of the Gata1low myelofibrosis mouse model by Aplidin". Journal of Cellular Physiology. 225 (2): 490–9. doi:10.1002/jcp.22228. PMC 3780594. PMID 20458749.
17. ^ Gilles L, Arslan AD, Marinaccio C, Wen QJ, Arya P, McNulty M, Yang Q, Zhao JC, Konstantinoff K, Lasho T, Pardanani A, Stein B, Plo I, Sundaravel S, Wickrema A, Migliaccio A, Gurbuxani S, Vainchenker W, Platanias LC, Tefferi A, Crispino JD (April 2017). "Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis". The Journal of Clinical Investigation. 127 (4): 1316–1320. doi:10.1172/JCI82905. PMC 5373858. PMID 28240607.
18. ^ Gassmann W, Löffler H (1995). "Acute megakaryoblastic leukemia". Leukemia & Lymphoma. 18 Suppl 1: 69–73. doi:10.3109/10428199509075307. PMID 7496359.
19. ^ BERNHARD WG, GORE I, KILBY RA (November 1951). "Congenital leukemia". Blood. 6 (11): 990–1001. doi:10.1182/blood.V6.11.990.990. PMID 14869361.
20. ^ SCHUNK GJ, LEHMAN WL (May 1954). "Mongolism and congenital leukemia". Journal of the American Medical Association. 155 (3): 250–1. doi:10.1001/jama.1954.73690210004006b. PMID 13151913.
21. ^ KRIVIT W, GOOD RA (September 1957). "Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey". AMA Journal of Diseases of Children. 94 (3): 289–93. doi:10.1001/archpedi.1957.04030040075012. PMID 13457660.
22. ^ HONDA F, PUNNETT HH, CHARNEY E, MILLER G, THIEDE HA (December 1964). "Serial cytogenetic and hematologic studies on amongol with trisomy-21 and acute congenital leukemia". The Journal of Pediatrics. 65 (6): 880–7. doi:10.1016/S0022-3476(64)80012-3. PMID 14244095.
23. ^ Lewis DS (September 1981). "Association between megakaryoblastic leukaemia and Down syndrome". Lancet. 2 (8248): 695. doi:10.1016/s0140-6736(81)91027-8. PMID 6116071. S2CID 1602479.
24. ^ Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C (September 1985). "Criteria for the diagnosis of acute leukemia of megakaryocyte lineage (M7). A report of the French-American-British Cooperative Group". Annals of Internal Medicine. 103 (3): 460–2. doi:10.7326/0003-4819-103-3-460. PMID 2411180.
25. ^ Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD (September 2002). "Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome". Nature Genetics. 32 (1): 148–52. doi:10.1038/ng955. PMID 12172547. S2CID 5745608.
26. ^ Greene ME, Mundschau G, Wechsler J, McDevitt M, Gamis A, Karp J, Gurbuxani S, Arceci R, Crispino JD (2003). "Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome". Blood Cells, Molecules & Diseases. 31 (3): 351–6. doi:10.1016/j.bcmd.2003.08.001. PMID 14636651.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Transient myeloproliferative disease
|
c1834582
| 26,045 |
wikipedia
|
https://en.wikipedia.org/wiki/Transient_myeloproliferative_disease
| 2021-01-18T18:41:03 |
{"gard": ["12765"], "mesh": ["C563551"], "umls": ["C1834582"], "icd-10": ["D47.7"], "orphanet": ["420611"], "wikidata": ["Q32136782"]}
|
Anastasia and Tatiana Dogaru
Born (2004-01-13) 13 January 2004 (age 16)
Rome, Italy
NationalityRomanian-Italian
Known forConjoined twins
Parent(s)Alin & Claudia Dogaru
RelativesMaria Dogaru
(elder sister)
Theodor Dogaru
(younger brother)
Anastasia and Tatiana Dogaru (born 13 January 2004[1]) are craniopagus conjoined twins. They were scheduled to begin the first of several surgeries to separate them at Rainbow Babies and Children's Medical Center in Cleveland, Ohio. However, in August 2007 the surgery was called off as too dangerous.[2]
The twins were born in Rome, Italy to Romanian parents, Alin Dogaru, a Byzantine Catholic priest, and Claudia Dogaru, a nurse. Their mother heard about the successful separation of Egyptian-born twins who were also joined at the head and hoped her children could also be successfully separated. The Dogaru family — who also have an older daughter, Maria, and younger son Theodor[3] — were brought to north Texas by the World Craniofacial Foundation to have Anastasia and Tatiana evaluated for possible separation.
The girls are currently developing normally for their age and speak both Romanian and English. They get around with Anastasia leading the way and Tatiana following. The top of Tatiana's head is attached to the back of Anastasia's. Anastasia, whose kidneys don't function, relies on her sister's kidneys, and Tatiana on her sister's circulatory system. The girls also share blood flow to the back of the brain and some brain matter. Doctors estimated the twins had only a 50 percent chance of surviving the surgery. There were also risks of complications, such as brain damage, but the girls also risk early death if they remain conjoined. Their parents believed separation would give them their best chance at living a normal life.[4][5][6]
In May 2007, doctors used a catheter to insert wire coils into the veins of the two girls, successfully redirecting their blood flow. It was the first time the procedure was attempted in conjoined twins. Doctors pushed back the first of the planned separation surgeries to June 2007 while studying the complex circulatory system of the twins, but, in August of that year, decided it was too risky.[1][7]
## Notes[edit]
1. ^ a b CNN Library (11 July 2013). "Conjoined Twins Fast Facts". CNN.
2. ^ "Hopes of ever separating conjoined girls dashed - Health - Kids and parenting - NBC News". NBC News. Retrieved 8 July 2010.
3. ^ Parentdish UK (October 19, 2011). "Seven-Year-Old Conjoined Twins Face Life Or Death Surgery Decision". Huffington Post.
4. ^ "Conjoined twins to be separated in Cleveland". www.wkyc.com. March 25–29, 2007.[dead link]
5. ^ "Conjoined Twins Prepare for Separation Surgery". www.abcnews.go.com. 2007-03-30.
6. ^ "Conjoined Twins Say Goodbye to Dallas". www.wkyc.com. 2007-03-30.[dead link]
7. ^ "Doctors postpone surgery on twins". Akron Beacon Journal. 2007-05-04.
## External links[edit]
* World Craniofacial Foundation
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Anastasia and Tatiana Dogaru
|
None
| 26,046 |
wikipedia
|
https://en.wikipedia.org/wiki/Anastasia_and_Tatiana_Dogaru
| 2021-01-18T18:38:03 |
{"wikidata": ["Q4751897"]}
|
Oral pigmentation is asymptomatic and does not usually cause any alteration to the texture or thickness of the affected area. The colour can be uniform or speckled and can appear solitary or as multiple lesions.[1] Depending on the site, depth, and quantity of pigment, the appearance can vary considerably.[2]
Oral pigmentation is found in the following places:
* Lower vermillion border (the exposed pink or reddish margin of a lip[3])
* Tongue
* Oral mucosa
* Gingivae
* Palate[2]
Oral pigmentation affects about 3% of the population[4] and is most likely seen in those with dark skin;[5] however people with light skin have, on average, 30 local pigmented areas and in some circumstances will present intra-orally. They are more often found in females than males[6] and the typical age at presentation is 40 years although they can appear at any age.[3]
## Contents
* 1 Causes
* 1.1 Racial pigmentation
* 1.2 Black hairy tongue
* 1.3 Amalgam tattoo
* 1.4 Peutz–Jeghers syndrome
* 1.5 Addison's disease
* 1.5.1 Systemically oral melanosis can also be associated with the following;
* 1.6 Kaposi's sarcoma
* 1.7 Smoker's melanosis
* 1.8 Oral melanoacanthoma
* 1.9 Melanocytic nevi
* 1.10 Melanotic macules
* 1.11 Oral melanoma
* 2 Pathogenesis
* 2.1 Physiological
* 2.2 Peutz-Jeghers syndrome
* 2.3 Addison’s disease
* 2.4 Smoker’s melanosis
* 2.5 Oral melanoacanthoma
* 2.6 Melanocytic nevi
* 2.7 Oral melanoma
* 3 Diagnosis
* 4 Management
* 4.1 Physiological oral pigmentation
* 4.2 Systemic conditions associated with oral pigmentation
* 4.3 Kaposi's sarcoma
* 4.4 Smoker's melanosis
* 4.5 Oral melanoma
* 5 Epidemiology
* 5.1 Physiological
* 5.2 Peutz Jeghers syndrome
* 5.3 Smokers melanosis
* 5.4 Melanotic macule
* 5.5 Oral melanoma
* 5.6 Cumulative frequency
* 6 See also
* 7 References
## Causes[edit]
### Racial pigmentation[edit]
Oral pigmentation affects about 3% of the population[4] and is most likely seen in those with dark skin;[5] however people with light skin have, on average, 30 local pigmented areas and in some circumstances will present intra-orally. They are more often found in females than males[6] and the typical age at presentation is 40 years although they can appear at any age.[3]
### Black hairy tongue[edit]
Black hairy tongue is a harmless condition which causes blackening pigmentation on the dorsum of the tongue. It is a very common oral condition and affects 13% of the world population. It is often due to poor oral hygiene which leads to accumulation of oral bacteria and build up of keratin on the tongue surface. Black hairy tongue can also be associated with the use of certain medications such as antibiotics, prolonged coffee/tea drinking habit, or smoking.[7]
### Amalgam tattoo[edit]
The amalgam tattoo is mostly found on the alveolar or gingival mucosa (however can sometimes found on the buccal mucosa) and is more commonly found in females and older patients. It appears as painless, blue/gray/black, nonulcerated, soft macule without any erythematous reaction surrounding it. The tattoos greatest diameter is usually less than 0.5 cm and some lesions containing larger particles may be identifiable on certain radiographs.[citation needed]
Some patients exhibit a long-term inflammatory response and if so they may produce discoloured, small papules. The discoloured patch may enlarge over time in patients demonstrating a strong macrophage response
Amalgam deposits can be found within bone occasionally. This can be caused during a surgical procedure eg tooth extraction or endodontic surgery, which has caused the material to become inadvertently dislodged from a restoration in an adjacent tooth. These deposits become blackened and can lead to blackening of the adjacent bone.[8]
### Peutz–Jeghers syndrome[edit]
The autosomal dominant disorder Peutz–Jeghers syndrome is characterized by ‘intestinal hamartomatous polyps in association with mucocutaneous melanocytic macules’. These macules often vary in shades of brown, size and are confluent, Although any oral site can be affected, in almost all cases pigmented macules appear on the buccal mucosae, lips and around the mouth. Pigmented macules on the face are less common. The extent of oral involvement and degree of pigmentation varies between each individual case.[citation needed]
An individual who has this syndrome has a relative risk fifteen times greater of developing cancer in comparison to the general population.[citation needed]
In older patients, the main consequence of the syndrome is cancer. The sites mainly affected include the pancreas, stomach, lungs, colon, small intestine, uterus, breasts and the ovaries and breasts. Additionally, Peutz-Jeghers Syndrome can be associated with other reproductive site cancers including sertoli cell tumours and adenoma malignum of the cervix.[citation needed]
In young patients, intussusception and obstruction of the small intestinal obstruction and are the main complications, these are caused by the small intestinal location of the polyps.[citation needed]
### Addison's disease[edit]
Addison’s disease can be caused by a variety of pathological processes. It is an endocrinal disorder where there is an increased amount of adrenocorticotropic hormone (ACTH) as a result of deficient amounts of hormones being produced from the adrenal cortex.[9] Due to this, dark pigmentation may be visible on the oral mucosa or skin.[10] Most common oral sites include: buccal mucosa, lips, gums, hard palate or tongue. Intraoral sites are usually seen as the first sign and they usually develop prior to the skin lesions.[11] In developing countries, this disease is often associated with tuberculosis, where the infection can lead to destruction of the adrenal gland.[12]
#### Systemically oral melanosis can also be associated with the following;[edit]
* Pregnancy[citation needed]
* Oral contraceptive intake[citation needed]
* Exposure to sunlight[citation needed]
* HIV [13]
* Antimalarial drug therapy [14]
### Kaposi's sarcoma[edit]
This is an intermediate neoplasm which affects the skin and mucous membranes; usually arising in patients with HIV.[15] The stages of this type of pigmentation start from an early patch stage, to become plaque-like which then develop into larger nodules- known as the tumour stage.[16] It is common to have oral involvement with this disease and frequently this is associated with a poor prognosis.[17]
### Smoker's melanosis[edit]
Smoker’s Melanosis, benign melanocytic pigmentation of the oral mucosa,[18][19] most commonly seen in the lower labial gingiva and interdental papillae[19] of smokers.[20] Smoking results in an increase of melanin deposit in the oral mucosa [18] through physical thermal damage and chemical interaction between melanin and nicotine compounds,[19] but this is not the only risk factor towards the pigmentation, it is also associated with other aetiology factors.[21]
### Oral melanoacanthoma[edit]
Oral melanoacanthoma are benign pigmented lesions due to dendritic melanocyte proliferation and superficial epithelium acanthosis. Clinically characterized by a rapidly growing macular brown lesion that appears suddenly.[22]
### Melanocytic nevi[edit]
Oral nevi or oral melanocytic nevi, are result of benign proliferations of nevus cells present either in the epithelial layer, the submucosal layer or both. Most commonly seen presentation of oral nevi are intramucosal nevi, these are dome shaped brown papules accounting for 64% of all reported case of oral nevi.[23] Other presentation of oral nevi includes: Blue nevus, junctional nevus and compound nevus.[24]
### Melanotic macules[edit]
Melanotic macules can be found on the buccal mucosa, lip, palate, alveolar ridge and gingiva.[8] Melanotic macules are benign pigmented lesions that are found in the oral cavity, caused by an increase in pigmentation in the basal cell layer of the epithelium and the lamina propria. Clinically presentation of melanotic macules are typically a brown, black, blue or grey area that is well circumscribed, lesions are usually less than 10 mm in diameter but can be larger in some cases. Vermillion border of the lips is the most common site to find melanotic macules.[25]
### Oral melanoma[edit]
This type of oral malignancy is very rare. It’s caused by proliferation of malignant melanocytes within the connective tissues. Most common oral sites include the hard palate and gums.[2] The presentation of oral melanoma can vary; some could be asymptomatic pigmented areas, whilst others could be rapidly growing areas of ulceration with symptoms such as, bone destruction, pain and bleeding.
To stage oral melanoma, the TNM clinical staging system is used. This stands for ‘Tumor – Nodes – Metastasis’. It highlights the three stages: stage I is a primary tumor; stage II is a metastatic tumor which has spread to regional lymph nodes and; stage III is a metastatic tumor which has spread to distant sites.[26]
## Pathogenesis[edit]
Many different diseases can cause melanin pigmented lesions in the mouth through
1. Increase in the number of melanocytes or melanocytosis
2. Increased melanin production with or without melanocytosis
Melanin is an endogenous pigment synthesized by melanocytes that are located in the basal layer of epithelium. Melanin is then transferred to keratinocytes in melanosomes. Nevus cells in the skin and oral mucosa also produce melanin. Oral melanosis can present as black, gray, blue or brown lesions depending on the site and amount of melanin deposition in tissues.[12]
### Physiological[edit]
Increased melanin production without increase in melanocytes[27]
### Peutz-Jeghers syndrome[edit]
Increased production of melanin without increase in number of melanocytes[2]
### Addison’s disease[edit]
Decrease in blood adrenocortical hormone level causes increased levels of adrenocorticotropic hormone secreted by anterior pituitary gland. As a result, melanocyte-stimulating hormone is induced which causes oral melanosis[27]
### Smoker’s melanosis[edit]
Increased melanin production to defend against damage from tobacco smoke[27]
### Oral melanoacanthoma[edit]
Increased number of dendritic melanocytes [27]
### Melanocytic nevi[edit]
Accumulation of nevus cells at the basal layer of the epithelium or in the connective tissue or both[27]
### Oral melanoma[edit]
Increased number of malignant melanocytes[27]
## Diagnosis[edit]
Diagnosis of oral pigmentation is by a complete history taken by the clinician followed by a thorough clinical examination.[1] Management of such lesions is typically by close clinical monitoring, photographs and measuring tools. A biopsy may be indicated where the following features are present: large or new-pigmented lesions and those with a papular appearance or irregular colouration.[28]
## Management[edit]
### Physiological oral pigmentation[edit]
Physiological pigmentation is considered of normal variation. However, for some individuals, the brown/black discolouration may be aesthetically displeasing. It may cause embarrassment or discomfort for some, particularly when smiling or talking. Some methods used to eliminate or reduce this pigmentation include gingivectomy, laser therapy and cryosurgery. There are pros and cons for each type of management strategy.[citation needed]
Cryotherapy is one the most successful and popular treatments for oral melanosis. Cryotherapy damages the tissue by freezing its internal components – thereby jeopardising the cells' optimum temperature; leading to denaturation of enzymes and proteins required for cell function. Minimum temperature needed for cell damage is cell specific, and melanocytes are very sensitive to low temperatures at −4 °C to −7 °C where cell death can occur.[29] This procedure is relatively pain free, so local anaesthesia is generally not needed. Immediately after, slight erythema of the gingiva becomes apparent. Superficial necrosis is observed over the next few days and a whitish slough could be separated from the underlying tissue leaving a clean pink ulcer bed. Within a week, the gingiva returns to normal and is fully healed in next few weeks minus the pigmentation.[30] In conclusion, cryotherapy has been described as the most suitable treatment options for physiological oral melanosis. It is simple yet effective method for treating oral pigmentation with minimal trauma to the patient.[31]
Alternatively, lasers can be used to treat physiological oral melanosis. There are many different lasers available on the market to purchase, each with their own individual benefits and disadvantages. These lasers are expensive therefore, not commonly available in a hospital or clinical setting. However, lasers allow for controlled cutting with a limited depth of necrosis. Studies have shown the diode laser is a safe method and is the preferred laser when no other short pulse lasers are available.[32] The diode laser is specific and is absorbed only by the melanin meaning more selective destruction and less damage to surrounding normal tissue with comparison to CO2 lasers.[33]
### Systemic conditions associated with oral pigmentation[edit]
Oral melanosis caused by systemic diseases may be the first sign a dentist or medical professional may pick up to cause suspicion for any underlying systemic disease. Most diseases are treated with the relevant medications which leads to a gradual decrease in oral melanosis. For example, Addison’s disease causes hyperpigmentation in the mouth and may be noticed during an exam followed alongside other systemic symptoms. An oral biopsy alongside other relevant tests (ie bloods) should be taken and confirmed for diagnosis for any type of oral melanosis which you suspect to be caused by an underlying disease. For Addison’s, the specific treatment option would be to treat with glucocorticoids and mineralocorticoids.[citation needed]
Alternatively, the continuous exposure to high concentrations of corticosteroids increases susceptibility to Cushing’s syndrome which is also a cause of oral melanosis. The patterns of pigmentation are very similar to those with Addison’s. The management of these depend on the severity and can be removed by surgical, radiation or drug therapy ie Pasierotide.[34]
With regards to oral melanosis caused by systemic diseases, the most important thing to do is to refer the patient to their GMP if there is a suspicion of any underlying systemic cause. If suitable, then it would be appropriate to carry out the relevant investigation to come to a definitive diagnosis. From here it will be easier to manage the cause with the relevant medication or therapy.[34]
### Kaposi's sarcoma[edit]
There is a variety of different treatment options for Kaposi sarcoma. The appropriate therapy options may vary depending on the variation of disease and the patients immune status.[35] If the lesion is localised, usually found in classical Kaposi sarcoma, and not systemic treatments can be any from lasers, cryotherapy, non-intervention, chemotherapy and immune upregulation.[36] For generalized and systemic cases chemotherapeutic drugs are used.[35] HAART is also a recognised treatment if the patient is known to suffer from AIDS-related Kaposi sarcoma. For cases of iatrogenic Kaposi sarcoma any immunosuppressive medication should be stopped or reduced if able.
### Smoker's melanosis[edit]
Smokers melanosis may resolve over several years following smoking cessation.[2]
### Oral melanoma[edit]
An initial biopsy of the lesion may be carried out first to determine correct diagnosis. Following this there is a number of different treatment options available. The combination used will be based on the individual patient and presenting melanoma. Surgical resection[37] is most commonly carried out. This involves cutting out the lesion and ensuring complete removal from the oral cavity. Chemotherapy and Radiotherapy are considered first line management[38] and they may be used in conjunction with surgery. Another option available is Immunotherapy. The aim of this is to target cells or molecules in the immune system in an effort to destroy tumours.[39] This can be done by suppressing or stimulating the patients immune system. After treatment has been carried out patients should be seen for regular follow ups[40] to manage any reoccurrence early and ensure complete healing following surgeries. If the melanoma has progressed extensively and metastasised, treatment, for example surgery, would be carried out in a palliative nature only.[41]
## Epidemiology[edit]
Oral pigmentation also be classified as 2 categories, melanocytic or non-melanocytic. (Melanocytic being the genesis due to the increase in melanotic pigments and non-melanocytic origin being the genesis from non melanotic causes). The prevalence of melanocytic and non-melanocytic causes of oral melanosis was roughly 1:1.[42][8]
### Physiological[edit]
Oral pigmentation affects about 3% of the population[4] and is most likely seen in those with dark skin[5]
### Peutz Jeghers syndrome[edit]
For Peutz Jeghers syndrome the frequency is approximately 1 case per 60,000-300,000 people in the USA. Equal occurrence in both sexes and all races. Average age of diagnosis being 23 years in men and 26 years in women.[25]
### Smokers melanosis[edit]
Smoker’s melanosis is present in all age groups, has no observed sex or race predilection.[8]
### Melanotic macule[edit]
For hyperplastic or neoplastic processes, the mean age of oral melanotic macule (hyperplastic- increase in malanoticpigments without an increase in malanocytes) is 43.1 years with the mean size of the lesion was about 6.8mm. The female: male ratio is 2:1 and lower lip being the most common location. For oral melanoma (neoplastic) the mean age was 53.8 years with equal ratio of female:male and most common location being in the palate or gingiva.[25][43]
### Oral melanoma[edit]
For oral melanoma (neoplastic lesion), the mean age was 53.8 years with equal ratio of female:male and most common location being in the palate or gingiva.[25][43]
### Cumulative frequency[edit]
The occurrence of oral malanosis on the cheeks were (21%), alveolar mucosa (16.6%), gingiva (11.8%). Amalgam tattoo being majority of the cases (46.3%), malanotic macules (22.9%) and nevus (20.5%).[42]
## See also[edit]
* List of cutaneous conditions
* Melanocytic oral lesion
* White sponge nevus
## References[edit]
1. ^ a b Lenkiewicz E, Ferencowa A, Szewczykowa E (April 1992). "[Subconjunctival autohemotherapy of eye burns in our cases]". Klinika Oczna (in Polish). 94 (4): 113–4. doi:10.4016/46352.01. PMID 1405409.
2. ^ a b c d e Gondak RO, da Silva-Jorge R, Jorge J, Lopes MA, Vargas PA (November 2012). "Oral pigmented lesions: Clinicopathologic features and review of the literature". Medicina Oral, Patologia Oral y Cirugia Bucal. 17 (6): e919-24. doi:10.4317/medoral.17679. PMC 3505710. PMID 22549672.
3. ^ a b c Culpepper CJ (2000). "Merriam‐Webster Online: The Language Center0011The Staff of Merriam‐Webster. Merriam‐Webster Online: The Language Center. 47 Federal Street, PO Box 281, Springfield, MA 01102; Tel: (413) 734‐3134; Fax: (413) 731‐5979;: Merriam‐Webster, Inc c1999. Free". Electronic Resources Review. 4: 9–11. doi:10.1108/err.2000.4.1_2.9.11.
4. ^ a b c Takematsu H, Usuba Y, Kato T, Tagami H (1989). "Giant volar melanotic macule". Skin Cancer. 4: 68–71. doi:10.5227/skincancer.4.68.
5. ^ a b c "Cawson, R. A.: Aids to Oral Pathology and Diagnosis. VII, 126 pages. Churchill Livingstone, Edinburgh - London - Melbourne - New York, 1981. Price: £ 3.50". Pathology - Research and Practice. 175 (4): 412. 1982. doi:10.1016/s0344-0338(82)80057-5.
6. ^ a b Retna Kumari N, Sreedharan S, Balachandran D (2007). "Melanotic neuroectodermal tumour of infancy: a case report". Journal of Indian Society of Pedodontics and Preventive Dentistry. 25 (3): 148–51. doi:10.4103/0970-4388.36568. PMID 17951934.
7. ^ Staff, SBI. "Hairy Tongue". www.aaom.com. Retrieved 2018-10-27.
8. ^ a b c d "Disorders of Oral Pigmentation: Background, Pathophysiology, Epidemiology". August 2018. Cite journal requires `|journal=` (help)
9. ^ Kim HW (September 1988). "Generalized oral and cutaneous hyperpigmentation in Addison's disease". Odonto-Stomatologie Tropicale = Tropical Dental Journal. 11 (3): 87–90. PMID 3268826.
10. ^ Kauzman A, Pavone M, Blanas N, Bradley G (November 2004). "Pigmented lesions of the oral cavity: review, differential diagnosis, and case presentations". Journal. 70 (10): 682–3. PMID 15530266.
11. ^ Sarkar SB, Sarkar S, Ghosh S, Bandyopadhyay S (October 2012). "Addison's disease". Contemporary Clinical Dentistry. 3 (4): 484–6. doi:10.4103/0976-237X.107450. PMC 3636818. PMID 23633816.
12. ^ a b Sreeja C, Ramakrishnan K, Vijayalakshmi D, Devi M, Aesha I, Vijayabanu B (August 2015). "Oral pigmentation: A review". Journal of Pharmacy & Bioallied Sciences. 7 (Suppl 2): S403-8. doi:10.4103/0975-7406.163471. PMC 4606629. PMID 26538887.
13. ^ Langford A, Pohle HD, Gelderblom H, Zhang X, Reichart PA (March 1989). "Oral hyperpigmentation in HIV-infected patients". Oral Surgery, Oral Medicine, and Oral Pathology. 67 (3): 301–7. doi:10.1016/0030-4220(89)90360-5. PMID 2927925.
14. ^ Kleinegger CL, Hammond HL, Finkelstein MW (August 2000). "Oral mucosal hyperpigmentation secondary to antimalarial drug therapy". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 90 (2): 189–94. doi:10.1067/moe.2000.106340. PMID 10936838.
15. ^ Faden A, AlSheddi M, AlKindi M, Alabdulaaly L (July 2017). "Oral Kaposi Sarcoma in HIV-seronegative Saudi patient: Literature review and case report". The Saudi Dental Journal. 29 (3): 129–134. doi:10.1016/j.sdentj.2017.03.003. PMC 5502912. PMID 28725131.
16. ^ Radu O, Pantanowitz L (February 2013). "Kaposi sarcoma". Archives of Pathology & Laboratory Medicine. 137 (2): 289–94. doi:10.5858/arpa.2012-0101-RS. PMID 23368874.
17. ^ Khammissa RA, Pantanowitz L, Feller L (2012). "Oral HIV-Associated Kaposi Sarcoma: A Clinical Study from the Ga-Rankuwa Area, South Africa". AIDS Research and Treatment. 2012: 873171. doi:10.1155/2012/873171. PMC 3447356. PMID 23008762.
18. ^ a b Monteiro LS, Costa JA, da Câmara MI, Albuquerque R, Martins M, Pacheco JJ, Salazar F, Figueira F (2015). "Aesthetic Depigmentation of Gingival Smoker's Melanosis Using Carbon Dioxide Lasers". Case Reports in Dentistry. 2015: 510589. doi:10.1155/2015/510589. PMC 4410537. PMID 25954535.
19. ^ a b c Brown FH, Houston GD (August 1991). "Smoker's melanosis. A case report". Journal of Periodontology. 62 (8): 524–7. doi:10.1902/jop.1991.62.8.524. PMID 1920020.
20. ^ Hedin CA (November 1977). "Smokers' melanosis. Occurrence and localization in the attached gingiva". Archives of Dermatology. 113 (11): 1533–8. doi:10.1001/archderm.1977.01640110053007. PMID 931390.
21. ^ Tadakamadla J, Kumar S, Nagori A, Tibdewal H, Duraiswamy P, Kulkarni S (December 2012). "Effect of smoking on oral pigmentation and its relationship with periodontal status". Dental Research Journal. 9 (Suppl 1): S112-4. PMC 3692188. PMID 23814550.
22. ^ Lakshminarayanan V, Ranganathan K (January 2009). "Oral melanoacanthoma: a case report and review of the literature". Journal of Medical Case Reports. 3: 11. doi:10.1186/1752-1947-3-11. PMC 2631493. PMID 19144105.
23. ^ Buchner, A.; Merrell, P. W.; Carpenter, W. M. (2004). "Relative frequency of solitary melanocytic lesions of the oral mucosa". Journal of Oral Pathology and Medicine. 33 (9): 550–557. doi:10.1111/j.1600-0714.2004.00238.x. ISSN 0904-2512. PMID 15357676.
24. ^ Buchner A, Merrell PW, Carpenter WM (October 2004). "Relative frequency of solitary melanocytic lesions of the oral mucosa". Journal of Oral Pathology & Medicine. 33 (9): 550–7. doi:10.1111/j.1600-0714.2004.00238.x. PMID 15357676.
25. ^ a b c d Shashikiran ND (2014). "Probiotic caries intervention…!!". Journal of Indian Society of Pedodontics and Preventive Dentistry. 32 (4): 271–2. doi:10.4103/0970-4388.140934. PMID 25231032.
26. ^ Meleti M, Leemans CR, Mooi WJ, Vescovi P, van der Waal I (February 2007). "Oral malignant melanoma: a review of the literature". Oral Oncology. 43 (2): 116–21. doi:10.1016/j.oraloncology.2006.04.001. PMID 16931116.
27. ^ a b c d e f Tarakji B, Umair A, Prasad D, Alsakran Altamimi M (December 2014). "Diagnosis of oral pigmentations and malignant transformations". Singapore Dental Journal. 35C: 39–46. doi:10.1016/j.sdj.2014.03.001. PMID 25496584.
28. ^ Schaffer JV, Bolognia JL (2003). "The treatment of hypopigmentation in children". Clinics in Dermatology. 21 (4): 296–310. doi:10.1016/s0738-081x(03)00045-2. PMID 14572700.
29. ^ Thai KE, Sinclair RD (November 1999). "Cryosurgery of benign skin lesions". The Australasian Journal of Dermatology. 40 (4): 175–84, quiz 185–6. doi:10.1046/j.1440-0960.1999.00356.x. PMID 10570551.
30. ^ Kumar M, Bandyopadhyay P, Kundu D, Mishra L (March 2013). "Cryosurgery by tetrafluoroethane: An answer to black gums". Journal of Indian Society of Periodontology. 17 (2): 257–60. doi:10.4103/0972-124X.113093. PMC 3713763. PMID 23869138.
31. ^ Talebi M, Farmanbar N, Abolfazli S, Sarraf Shirazi A (2012). "Management of physiological hyperpigmentation of oral mucosa by cryosurgical treatment: a case report". Journal of Dental Research, Dental Clinics, Dental Prospects. 6 (4): 148–51. doi:10.5681/joddd.2012.030. PMC 3529929. PMID 23277862.
32. ^ Soliman MM, Al Thomali Y, Al Shammrani A, El Gazaerly H (April 2014). "The use of soft tissue diode laser in the treatment of oral hyper pigmentation". International Journal of Health Sciences. 8 (2): 133–40. doi:10.12816/0006079. PMC 4166985. PMID 25246880.
33. ^ Castro GL, Gallas M, Núñez IR, Borrajo JL, Varela LG (February 2006). "Histological evaluation of the use of diode laser as an adjunct to traditional periodontal treatment". Photomedicine and Laser Surgery. 24 (1): 64–8. doi:10.1089/pho.2006.24.64. PMID 16503791.
34. ^ a b Feagans W, Glick M (2015). Burket's oral medicine (12th ed.). Buffalo, New York: People's Medical Publishing House. pp. 132, 136–137.
35. ^ a b Coleman Iii, William P. (2008). "Skin Cancer: Recognition and Management, 2nd Edition by ROBERT A. SCHWARTZ". Dermatologic Surgery. 34 (12): 1702. doi:10.1111/j.1524-4725.2008.34351.x.
36. ^ Stockfleth E, Rosen T, Schumack S (2010). Managing skin cancer. Berlin: Springer. ISBN 9783540793472. OCLC 663097085.[page needed]
37. ^ Umeda M, Komatsubara H, Shigeta T, Ojima Y, Minamikawa T, Shibuya Y, Yokoo S, Komori T (July 2008). "Treatment and prognosis of malignant melanoma of the oral cavity: preoperative surgical procedure increases risk of distant metastasis". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 106 (1): 51–7. doi:10.1016/j.tripleo.2008.03.003. PMID 18504155.
38. ^ Zhang J, Yu M, Li X, Huang X, Wang H (October 2018). "Combination therapy improves immune response and prognosis in patients with advanced oral mucosal melanoma: A clinical treatment success". Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 126 (4): 307–316. doi:10.1016/j.oooo.2018.05.004. PMID 29958936.
39. ^ Immunotherapy of Cancer. 2016. doi:10.1007/978-4-431-55031-0. ISBN 978-4-431-55030-3.
40. ^ Mohan M, Sukhadia VY, Pai D, Bhat S (October 2013). "Oral malignant melanoma: systematic review of literature and report of two cases". Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 116 (4): e247-54. doi:10.1016/j.oooo.2011.11.034. PMID 22771409.
41. ^ Padhye A, D'souza J (October 2011). "Oral malignant melanoma: A silent killer?". Journal of Indian Society of Periodontology. 15 (4): 425–8. doi:10.4103/0972-124x.92587. PMC 3283947. PMID 22368374.
42. ^ a b Tavares TS, Meirelles DP, de Aguiar MC, Caldeira PC (November 2018). "Pigmented lesions of the oral mucosa: A cross-sectional study of 458 histopathological specimens". Oral Diseases. 24 (8): 1484–1491. doi:10.1111/odi.12924. PMID 29945290.
43. ^ a b Shen ZY, Liu W, Bao ZX, Zhou ZT, Wang LZ (July 2011). "Oral melanotic macule and primary oral malignant melanoma: epidemiology, location involved, and clinical implications". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 112 (1): e21-5. doi:10.1016/j.tripleo.2011.02.040. PMID 21669356.
* Disorders of oral pigmentation:Medscape
* 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
|
Oral pigmentation
|
c0399483
| 26,047 |
wikipedia
|
https://en.wikipedia.org/wiki/Oral_pigmentation
| 2021-01-18T19:02:28 |
{"umls": ["C0399483"], "wikidata": ["Q7099396"]}
|
Autoimmune autonomic ganglionopathy (AAG) is a rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autoimmune autonomic ganglionopathy
|
None
| 26,048 |
gard
|
https://rarediseases.info.nih.gov/diseases/11917/autoimmune-autonomic-ganglionopathy
| 2021-01-18T18:01:59 |
{"synonyms": ["Autoimmune Autonomic Neuropathy"]}
|
Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mosaic trisomy 16
|
c1519651
| 26,049 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1708
| 2021-01-23T17:19:37 |
{"mesh": ["C538041"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 16", "Trisomy 16 mosaicism"]}
|
T-cell large granular lymphocyte leukemia is a rare cancer of a type of white blood cells called lymphocytes. T-cell large granular lymphocyte leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
T-cell large granular lymphocyte leukemia
|
c1955861
| 26,050 |
gard
|
https://rarediseases.info.nih.gov/diseases/9812/t-cell-large-granular-lymphocyte-leukemia
| 2021-01-18T17:57:25 |
{"mesh": ["D054066"], "orphanet": ["86872"], "synonyms": ["Proliferation of large granular lymphocytes", "T-LGL", "T-cell LGL leukemia", "Large Cell Granular Lymphogenous Leukemia", "T-LGL leukemia"]}
|
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. (November 2019)
Ankle problems
Ankle of human
Symptomsswollen, bruising, redness, numbness, instability, burning pain, stiffness, weakness[1]
Durationaround 7-14 days, severe problems might take months to cure.[2]
TypesGout, arthritis, tendinitis, nerve damage, blocked blood vessels, joint infection, Injuries, muscle weakness, relapse of existing problem[3]
CausesUsually Sprained ankle[4]
Diagnostic methodMedical history, Medical examination, X-ray, Magnetic resonance imaging (MRI) or CT scan[5]
Ankle problems are of frequent occurrence and feature symptoms which include pain or discomfort experienced in the ankles.[2]
A computertomographie of a 13-year-old child who was diaognised by "Trevor disease", which is an additional bone growth on the knee or ankle.[6]
Mild ankle pain can often be cured by home treatments, although these may be slow to take effect. Specialized physicians are needed if the condition is severe, especially if it has been caused by injury.[7]
## Contents
* 1 Symptoms
* 2 Causes
* 2.1 Sprained ankle
* 2.2 Gout
* 2.3 Osteoarthritis
* 2.3.1 How osteoarthritis influences the feet and ankles
* 2.3.2 Rheumatoid arthritis
* 2.3.3 Tendonitis
* 2.3.3.1 Common causes
* 2.4 Joint infection
* 2.5 Injuries
* 3 Diagnosis
* 4 References
## Symptoms[edit]
The ankle joint marks the point of connection between the bones of the leg and those of the foot, and controls the raising and lowering of the foot. The ankle is often considered to comprise not only the ankle joint itself but also the structures surrounding it at the lower end of the leg and the beginning of the foot proper. Ankle pain may be symptomatic of inflammation of, or injury to, any of the tissues present in the region, including the joint space, cartilage, tendons, ligaments, bones, and muscles. Ankle pain may be associated with the following symptoms:[1]
* swelling
* bruising
* redness
* numbness or tingling
* instability
* burning pain
* inability to bear weight on the affected ankle
* stiffness
* weakness
Tenderness/pain, difficulty in flexing the joint, difficulty in walking, difficulty in bearing weight, stiffness and swelling form a constellation of symptoms which may be indicative of Osteoarthritis.[8]
## Causes[edit]
Frequent causes of ankle problems include injuries such as sprains and medical conditions such as arthritis (specifically osteoarthritis[9]).[2]
### Sprained ankle[edit]
Main article: Sprained ankle
One of the most frequent causes of ankle pain (accounting for around 85 percent of total ankle problems - according to the National University of Health Sciences (NUHS)) a sprain occurs when the ankle is twisted, causing the ligaments to be over-stretched , or even (in the most severe cases) torn.[4] Most ankle sprains are lateral sprains that occur when the foot rolls, causing the side of the ankle to be pressed to the ground.[2] Small blood vessels rupture in the process and cause the ankle to swell[4] and damage may also occur to the ligaments, these constituting a short band of tough, flexible, fibrous connective tissues holding the bones together.[10] Rolling of the ankle may also damage cartilage or tendons.[2] A sprained ankle will usually display signs of swelling and bruising for one to two weeks, although more serious cases may take several months to heal fully.[2]
Athletes run a greater risk of sprained ankles [4] \- more especially players of ball games such as football, basketball and volleyball.[1]
Out of every 10 people with severe ankle sprains, between 1 and 2 suffer chronic instability of the affected joint.[1]
A sprained ankle may remain permanently weakened and of compromised stability following the healing of the injury. The biggest risk factor for an ankle sprain is a previous ankle sprain, according to a review published by the American Academy of Family Physicians (AAFP).[2]
### Gout[edit]
Gout occurs in the body when uric acid (a by-product of normal cellular breakdown) accumulates to a level of concentration higher than normal, depositing crystals in the joints and causing sharp pain.[2]
Other conditions include pseudogout, which results from calcium deposits building up in the joints.[2]
The symptoms of gout often include pain, redness and swelling.[11]
### Osteoarthritis[edit]
Arthritis is an inflammation of the joints, causing swelling in and around the joints of the body and their surrounding soft tissues.[5] This inflammation can cause pain and stiffness[5] and is one of the most common causes of ankle problems.[2]
In many types of arthritis, progressive joint degeneration in the joint occurs and smooth "buffered" cartilage is gradually lost, causing the bones rub against each other and wear, as well as the soft joint tissue. Arthritis can be unbearably painful and can lead ultimately to limited movement, serious loss of joint function and even deformity of affected joints.[5]
There are many types of arthritis, of which osteoarthritis is very common cause of ankle pain. This is caused by cumulative wear and tear of the joint and may also result in swelling and deformity.[5] It occurs most frequently in the old, with the likelihood of osteoarthritis increasing with age.[8]
#### How osteoarthritis influences the feet and ankles[edit]
The human foot has 28 bones and more than 30 joints. The following foot joints are those most commonly affected by osteoarthritis:[5]
* The three foot joints, including the heel, the medial and the mid-foot bone
* big toe and foot bone joint
* Joints at which the ankle and the tibia meet
#### Rheumatoid arthritis[edit]
Rheumatoid arthritis constitutes yet another possible cause of pain in the ankle.[9]
#### Tendonitis[edit]
Tendonitis is one of the most common causes of pain in the foot or ankle. The muscles of the legs, feet and ankles are fixed to the bones by tendons, which are strong rope-like structures. Tendonitis is inflammation around a tendon, leading to pain experienced during and after activity, which abates temporarily, but returns upon resumption of exercise.[12]
Common forms of tendonitis affecting the foot and ankle include Achilles tendonitis, posterior tibial tendonitis, peroneal tendinosis, flexor tendonitis, and extensor tendonitis.[13] Self-care measures usually heal these injuries in a few weeks
##### Common causes[edit]
* Overuse: The most common cause of tendonitis is overuse, which means that the tendon is overstretched and may be slightly pulled apart or torn. This happens when activities increase, including everything from walking to participating in competitive sports.[14]
* Abnormal foot structure: Problems such as flat feet or high arches can create muscle imbalances that put pressure on one or more tendons.[14]
* Trauma: Injury to the foot or ankle can cause tendinitis. This can happen by sudden and powerful actions such as jumping. Another form of trauma is chronic friction on the shoe, which usually occurs at the top of the foot or heel, causing tendinitis in these areas.[12]
* Medical conditions: Certain diseases that cause general inflammation can cause tendinitis. Inflammation of rheumatoid arthritis, gout and spondyloarthropathy can cause Achilles tendinitis or posterior tendonitis.[12]
* Nerve damage such as sciatica
* Blocked blood vessels
### Joint infection[edit]
Septic arthritis is a type of arthritis caused by bacterial or fungal infection of the ankle region.[2]
### Injuries[edit]
Injuries can cause ankle problems, for example, tripping or going over on the ankle.[3]
## Diagnosis[edit]
Diagnosis of ankle problems, especially of osteoarthritis involves:[5]
* Medical history
* Medical examination
* X-ray
* Magnetic resonance imaging (MRI) or CT scan
## References[edit]
1. ^ a b c d Information, National Center for Biotechnology; Pike, U. S. National Library of Medicine 8600 Rockville; MD, Bethesda; Usa, 20894 (2018-04-19). Ankle sprains: Overview. Institute for Quality and Efficiency in Health Care (IQWiG).CS1 maint: numeric names: authors list (link)
2. ^ a b c d e f g h i j k "Ankle pain: Causes, Symptoms and Diagnosis". www.healthline.com. Retrieved 2019-05-25.
3. ^ a b "Ankle problems". www.nhsinform.scot. Retrieved 2019-05-29.
4. ^ a b c d de Vries, JS; Krips, R; Sierevelt, IN; Blankevoort, L (2003-04-22), "Interventions for treating chronic ankle instability", Cochrane Database of Systematic Reviews, John Wiley & Sons, Ltd, doi:10.1002/14651858.cd004124
5. ^ a b c d e f g "Foot and Ankle Osteoarthritis". WebMD. Retrieved 2019-06-03.
6. ^ "File:Right foot before surgery in a CT.png", Wikipedia, retrieved 2019-05-21
7. ^ "Ankle pain". Mayo Clinic. Retrieved 2019-05-13.
8. ^ a b "Osteoarthritis | Arthritis Foundation". arthritis.org. Retrieved 2019-05-29.
9. ^ a b "Yesterday, Today & Tomorrow: NIH Research Timelines". report.nih.gov. Retrieved 2019-05-25.
10. ^ "Ankle Injury". Sports Medicine Australia. Retrieved 2019-05-25.
11. ^ Han, Jia; Anson, Judith; Waddington, Gordon; Adams, Roger; Liu, Yu (2015). "The Role of Ankle Proprioception for Balance Control in relation to Sports Performance and Injury". BioMed Research International. 2015: 1–8. doi:10.1155/2015/842804. ISSN 2314-6133. PMC 4637080.
12. ^ a b c "OrthoInfo | Error". orthoinfo.aaos.org. Retrieved 2019-06-06.
13. ^ Delee, Jesse; Drez, David; Miller, Mark (2010), "Preface", DeLee and Drez's Orthopaedic Sports Medicine, Elsevier, pp. xv, doi:10.1016/b978-1-4160-3143-7.00030-0, ISBN 9781416031437
14. ^ a b "Home". legacy.aofas.org. Retrieved 2019-06-06.
* v
* t
* e
Anatomy and morphology
Fields
* Gross anatomy
* Superficial anatomy
* Neuroanatomy
* brain morphometry
* Comparative anatomy
* Microscopic anatomy
* histology
* molecular
* Morphometrics
Bacteria and fungi
* Bacterial cell structure
* cellular morphologies
* morphological plasticity
* Colonial morphology
* Lichen morphology
Protists
* Structures
Plants
* Plant anatomy
* fruit
* Plant habit
* Plant life-form
* Plant morphology
* reproductive
* diseases
* Soil morphology
Invertebrates
* Decapod anatomy
* Gastropod anatomy
* Insect morphology
* Diptera
* Odonata
* Spider anatomy
Mammals
* Human anatomy
* Neanderthal anatomy
* Cat anatomy
* Dog anatomy
* Horse anatomy
* Elephant anatomy
* Giraffe anatomy
Other vertebrates
* Bird anatomy
* Fish anatomy
* Shark anatomy
Glossaries
* Anatomical terminology
* Anatomical terms of location
* Glossary of dinosaur anatomy
* Glossary of plant morphology
* leaf morphology
Related topics
* Allometry
* Anatomical variation
* Anatomical plane
* Body plan
* Form classification
* Gracility
* Hertwig rule
* History of anatomy
* 19th century
* Physiognomy
* Standard anatomical position
* Transcendental anatomy
* Category
* Portal
* Index of anatomy articles
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ankle problems
|
c1290881
| 26,051 |
wikipedia
|
https://en.wikipedia.org/wiki/Ankle_problems
| 2021-01-18T19:04:25 |
{"umls": ["C1290881"], "wikidata": ["Q65069688"]}
|
Infection rates of HIV/AIDS in Mali are estimated to be under 2%, which is relatively low compared to other parts of Africa, although the infection rate is higher among women of childbearing age. However, this figure is most likely deceptive; the problem in attempting to estimate infection rates is that voluntary testing is rare. Women who give birth in a hospital are automatically tested, but others in the general population rarely present themselves for testing. National education campaigns have targeted the general population since the late 1990s, as government and international organizations are concerned that Malians may be vulnerable to the spread of the pandemic. Since 2002, the Supreme National Council for AIDS (HCNLS) has coordinated educational campaigns around sexual activity and condom use to stem HIV infection. Condom use remains low by international standards.
## Contents
* 1 Prevalence
* 2 National response
* 3 See also
* 4 References
## Prevalence[edit]
The first cases of HIV/AIDS in Mali were reported in 1985. While the adult HIV prevalence was still relatively low at 1.7% according to the 2001 Demographic and Health Survey (DHS), it was estimated that HIV prevalence in the general population could triple by 2010 if appropriate prevention measures are not taken immediately. There are over 11,000 children living with AIDS in Mali.[1]
Vulnerability to HIV infection in Mali is associated with a variety of factors, including poverty, poor health conditions, certain cultural practices, and low literacy levels. Cultural factors related to HIV vulnerability may include male dominance of women, the early onset of sexual activity among females, and polygamy, while poverty may result in increased prostitution. In addition to polygyny, another cultural factor widely accepted among much of the population is multiple sex partners outside of marriage. Migration is also a significant contributor to HIV infection, as HIV prevalence in neighboring countries such as Côte d'Ivoire and Burkina Faso is substantially higher than in Mali. Political and social troubles in countries like Côte d'Ivoire, Liberia, and Sierra Leone are also believed to contribute to increased HIV transmission across borders.[1]
Recorded rates of HIV infection are higher in Malian women than in men, particularly among pregnant women 25–29 years of age, in whom prevalence is almost 5%. The estimated ratio of HIV-infected young women to young men is 4.5:1. Low condom use and a high prevalence of sexually transmitted disease and sexually transmitted infections (STIs) are important contributing factors for HIV transmission in Mali. Condom use by young males 15–24 years of age is approximately 30%, but among young females it is as low as 14%. Condom use is also low among other vulnerable populations, such as military personnel, truck drivers, and vendors. A recent survey found that only 12% of women vendors in Bamako (with an estimated HIV seroprevalence of 6.7%) reported using a condom with their last non-regular partner.[1] Some people still do not believe that AIDS is real, citing rumors that it is a myth propagated by people in Western/European countries who don't want Africans to have more children.
## National response[edit]
The commitment of the Government of Mali to HIV/AIDS prevention and treatment is evident. The National AIDS Program was restructured in 2002, creating the Supreme National Council for AIDS (HCNLS), headed by the President of Mali; in 2004, an Executive Secretariat was added to the HCNLS to coordinate multisectoral HIV/AIDS-related programming. The National Strategic Plan for HIV/AIDS Control (2001–2005) was developed, and coordination for a new strategic plan (2005–2009) has begun. In March 2004, the government signed a national declaration of HIV/AIDS policy.[1]
## See also[edit]
* Health in Mali
* Ebola virus disease in Mali
## References[edit]
1. ^ a b c d "Health Profile: Mali" Archived 2008-08-16 at the Wayback Machine. USAID (February 2005). This article incorporates text from this source, which is in the public domain.
* v
* t
* e
HIV/AIDS in Africa
Sovereign states
* Algeria
* Angola
* Benin
* Botswana
* Burkina Faso
* Burundi
* Cameroon
* Cape Verde (Cabo Verde)
* Central African Republic
* Chad
* Comoros
* Democratic Republic of the Congo
* Republic of the Congo
* Djibouti
* Egypt
* Equatorial Guinea
* Eritrea
* Eswatini (Swaziland)
* Ethiopia
* Gabon
* The Gambia
* Ghana
* Guinea
* Guinea-Bissau
* Ivory Coast (Côte d'Ivoire)
* Kenya
* Lesotho
* Liberia
* Libya
* Madagascar
* Malawi
* Mali
* Mauritania
* Mauritius
* Morocco
* Mozambique
* Namibia
* Niger
* Nigeria
* Rwanda
* São Tomé and Príncipe
* Senegal
* Seychelles
* Sierra Leone
* Somalia
* South Africa
* South Sudan
* Sudan
* Tanzania
* Togo
* Tunisia
* Uganda
* Zambia
* Zimbabwe
States with limited
recognition
* Sahrawi Arab Democratic Republic
* Somaliland
Dependencies and
other territories
* Canary Islands / Ceuta / Melilla (Spain)
* Madeira (Portugal)
* Mayotte / Réunion (France)
* Saint Helena / Ascension Island / Tristan da Cunha (United Kingdom)
* v
* t
* e
HIV/AIDS topics
HIV/AIDS
HIV
* HIV
* Lentivirus
* structure and genome
* subtypes
* CDC classification
* disease progression rates
* HIV/AIDS
* diagnosis
* management
* pathophysiology
* prevention
* research
* vaccination
* PrEP
* WHO disease staging system for HIV infection and disease
* Children
* Teens / Adults
* Countries by AIDS prevalence rate
Conditions
* Signs and symptoms
* AIDS-defining clinical condition
* Diffuse infiltrative lymphocytosis syndrome
* Lipodystrophy
* Nephropathy
* Neurocognitive disorders
* Pruritus
* Superinfection
* Tuberculosis co-infection
* HIV Drug Resistance Database
* Innate resistance to HIV
* Serostatus
* HIV-positive people
* Nutrition
* Pregnancy
History
* History
* Epidemiology
* Multiple sex partners
* Timeline
* AIDS Museum
* Timothy Ray Brown
* Women and HIV/AIDS
Social
* AIDS orphan
* Catholic Church and HIV/AIDS
* Circumcision and HIV
* Criminal transmission
* Discrimination against people
* Economic impact
* Cost of treatment
* HIV-affected community
* HIV/AIDS activism
* HIV/AIDS denialism
* Red ribbon
* Safe sex
* Sex education
* List of HIV-positive people
* People With AIDS Self-Empowerment Movement
* HIV/AIDS in the porn industry
Culture
* Discredited HIV/AIDS origins theories
* International AIDS Conference
* International AIDS Society
* Joint United Nations Programme on HIV/AIDS (UNAIDS)
* Media portrayal of HIV/AIDS
* Misconceptions about HIV/AIDS
* President's Emergency Plan for AIDS Relief (PEPFAR)
* The SING Campaign
* Solidays
* Treatment Action Campaign
* World AIDS Day
* YAA/Youthforce
* "Free Me"
* Larry Kramer
* Gay Men's Health Crisis
* ACT UP
* Silence=Death Project
HIV/AIDS pandemic by region / country
Africa
* Angola
* Benin
* Botswana
* Democratic Republic of the Congo
* Egypt
* Eswatini
* Ethiopia
* Ghana
* Guinea
* Côte d'Ivoire (Ivory Coast)
* Kenya
* Lesotho
* Madagascar
* Malawi
* Mali
* Mozambique
* Namibia
* Niger
* Nigeria
* Rwanda
* Senegal
* Tanzania
* South Africa
* Uganda
* Zambia
* Zimbabwe
North America
* Canada
* Mexico
* El Salvador
* Guatemala
* Honduras
* Nicaragua
United States
* New York City
Caribbean
* Haiti
* Jamaica
* Dominican Republic
South America
* Bolivia
* Brazil
* Colombia
* Guyana
* Peru
Asia
* Afghanistan
* Armenia
* Azerbaijan
* Bahrain
* Bangladesh
* Bhutan
* Cambodia
* China (PRC) (Yunnan)
* East Timor
* India
* Indonesia
* Iran
* Iraq
* Japan
* Jordan
* North Korea
* Laos
* Malaysia
* Myanmar (Burma)
* Nepal
* Pakistan
* Philippines
* Saudi Arabia
* Sri Lanka
* Taiwan (ROC)
* Thailand
* United Arab Emirates
* Turkey
* Vietnam
Europe
* United Kingdom
* Russia
* Ukraine
Oceania
* Australia
* New Zealand
* Papua New Guinea
* List of countries by HIV/AIDS adult prevalence rate
* List of HIV/AIDS cases and deaths registered by region
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
HIV/AIDS in Mali
|
None
| 26,052 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Mali
| 2021-01-18T18:59:20 |
{"wikidata": ["Q5629860"]}
|
Megalocornea
SpecialtyOphthalmology
Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching and exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22).[1] The X-linked form is more common and males generally constitute 90% of cases.[1]
It may be associated with Alport syndrome, craniosynostosis, dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon syndrome, megalocornea-mental retardation syndrome etc.[1][2]
## Clinical features[edit]
Eyes are usually highly myopic.[3] There may be 'with the rule' astigmatism.[1] Lens may be luxated due to zonular streaching.[3]
## References[edit]
1. ^ a b c d Scott R., Lambert; Christopher J., Lyons (2013). Taylor and Hoyt's pediatric ophthalmology and strabismus (5th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-6617-7. OCLC 960162637.
2. ^ Alastair K. O., Denniston; Philip I., Murray (2018). Oxford handbook of ophthalmology (4th ed.). New York: Oxford university press. ISBN 978-0-19-252674-8. OCLC 1035556464.
3. ^ a b John F., Salmon (2020). Kanski's clinical ophthalmology : a systematic approach (9th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-7713-5. OCLC 1131846767.
## External links[edit]
Classification
D
* OMIM: 249300
* MeSH: C562829 C562829, C562829
External resources
* eMedicine: article/1196299
* Megalocornea \- eMedicine ophthalmology; May 15, 2009; Thomas A Oetting, MD, Mark A Hendrix, MD
* An Infant With Enlarged Corneas \- medscape
* v
* t
* e
Congenital malformations and deformations of eyes
Adnexa
Eyelid
* Ptosis
* Ectropion
* Entropion
* Distichia
* Blepharophimosis
* Ablepharon
* Marcus Gunn phenomenon
Lacrimal apparatus
* Congenital lacrimal duct obstruction
Globe
Entire eye
* Anophthalmia (Cystic eyeball, Cryptophthalmos)
* Microphthalmia
Lens
* Ectopia lentis
* Aphakia
Iris
* Aniridia
Anterior segment
* Axenfeld–Rieger syndrome
Cornea
* Keratoglobus
* Megalocornea
Other
* Buphthalmos
* Coloboma (Coloboma of optic nerve)
* Hydrophthalmos
* Norrie 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
|
Megalocornea
|
c0344530
| 26,053 |
wikipedia
|
https://en.wikipedia.org/wiki/Megalocornea
| 2021-01-18T18:37:08 |
{"mesh": ["C562829"], "umls": ["C0344530"], "orphanet": ["91489"], "wikidata": ["Q4286595"]}
|
Gomez-Lopez-Hernandez syndrome
Other namesCraniosynostosis-alopecia-brain defect syndrome, Craniosynostosis-alopecia-brain defect syndrome
A young girl showing characteristic bilateral alopecia and angled ears
Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous (Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities.[1] Gómez–López-Hernández syndrome has been diagnosed in only 34 people.[2] Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome.[1][2] Gómez–López-Hernández syndrome was first characterized in 1979.[3]
## Contents
* 1 Presentation
* 1.1 Physical
* 1.2 Neurological
* 1.3 Behavioral
* 2 Causes
* 3 Diagnosis
* 4 Management
* 5 Prognosis
* 6 Epidemiology
* 7 Eponym
* 8 References
* 9 External links
## Presentation[edit]
### Physical[edit]
Physical characteristics of the syndrome can vary and are not universal. People with Gómez–López-Hernández syndrome often have a short skull (brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears.[4] This bilateral scalp alopecia is the most consistent physical characteristic of Gómez–López-Hernández syndrome.[5] In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[2] Some people with Gómez–López-Hernández syndrome also have wide-set (hypertelorism) and crossed eyes (strabismus).[4] Scarring or clouding of the cornea occurs in the majority of people with Gómez–López-Hernández syndrome.[6] A short stature is common.[1]
### Neurological[edit]
Aside from the physical characteristics of the eyes there is also less sensation in the eyes when stimulated.[4] The eyes also show low motor control (ataxia).[4] Along with ataxia comes a lack of coordination or ability to judge the distance of objects (dysmetria).[6] MRIs show a constant feature of rhombencephalosynapsis–a condition marked by the absence or partial absence of the cerebellar vermis and varying degrees of fusion in the cerebellum in every case of Gómez–López-Hernández syndrome.[4][7][8] Also absent are the trigeminal nerve of the trigeminal cave and the foramen rotundum, causing abnormal sensations on the forehead and the corneas.[6][8] One Gómez–López-Hernández syndrome case in Japan also presents fever-induced seizures.[9] Others may or may not present with non-fever-induced seizures.[4] Malformations of motor centers in the brain cause reduced muscle strength (hypotonia).[8] Eleven of fifteen people in one study showed moderate-to-severe intellectual disability.[6] In cases where it has been noted, head nodding is present.[6] Hydrocephalus and enlargement of the ventricular system is consistently present.[6] A reduced corpus callosum is present in some cases (agenesis of the corpus callosum).[6]
MRI showing fusion of cerebellar hemispheres common in GLH syndrome
### Behavioral[edit]
Gómez–López-Hernández syndrome is associated with irritability, anxiety, insomnia, and self-harming behavior.[4] Developmental disabilities often present as intellectual disability with social, occupational, and learning disabilities.[4] Reduced eye sensation may cause self-harm to the eyes; one patient is on record as having put her fingers into her eyes to the point of causing additional corneal damage beyond what is normally characteristic of the syndrome.[4]
## Causes[edit]
The exact causes of Gómez–López-Hernández syndrome are currently unknown. Mutations of the ACP2 gene have been implicated but not confirmed.[4] One case of siblings — both with Gómez–López-Hernández syndrome — has been observed, showing possible evidence of recessive inheritance.[2] The Brazilian parents of these siblings showed some degree of inbreeding, being first cousins.[2] Five of the 34 people diagnosed with Gómez–López-Hernández syndrome have also come from Brazil.[2] Lack of expression from the WNT1, FGF8, FGF17, OTX2, fgf8, and fgf17 genes have all been implicated as possibly being the cause of cerebellum fusion.[4]
## Diagnosis[edit]
All cases of Gómez–López-Hernández syndrome present scalp alopecia, varying degrees of low-set ears and most have a flattened skull.[10] Scalp alopecia has been present in all but one case though it can be asymmetrical or, in a single case, only present on one side.[5] All people with Gómez–López-Hernández syndrome also have delayed motor milestones.[10] All people with the syndrome have malformation of the cerebellum.[10] Certain characteristics are often present in those with Gómez–López-Hernández syndrome but are not consistent enough to rule out the syndrome if they are not present. Reduced eye sensation, or trigeminal anesthesia, is present in about three-quarters of people with Gómez–López-Hernández syndrome.[5] Malformations of the skull, rotations of the ears, and abnormalities of the face are features that vary widely and cannot be used alone to diagnose Gómez–López-Hernández syndrome as these characteristics overlap with some other diseases.[5] Gómez–López-Hernández syndrome has been diagnosed as early as 21 weeks with prenatal MRI showing fusion of the cerebellum and later confirmed postnatal with skull and facial abnormalities at six weeks.[11]
## Management[edit]
Gómez–López-Hernández syndrome is rare and similar to other developmental disabilities. Management is similar to other developmental disabilities as there is no cure for malformations of the brain. Gómez–López-Hernández syndrome has been diagnosed mostly in poorer countries.[4] There have been no documented attempts made to educate children with the syndrome (when intellectual disability is present) to establish a baseline of intellectual ability due to these socioeconomic problems.[4]
## Prognosis[edit]
The oldest person who has been diagnosed with Gómez–López-Hernández syndrome was 29 years old at the time of his assessment in 2008.[4] Most people with Gómez–López-Hernández syndrome are consistently low weight (3rd-25th percentile) and low stature due to a deficiency of growth hormone.[4] Low mobility is often an issue.[4] The cause of low mobility is thought to be neurological, therefore bone structure is not greatly affected.[4] Seizures may or may not be present and can result in injuries for those who are more mobile.[4] ADHD and bipolar disorder — which are sometimes present — can lead to dangerous behavior or outbursts.[4] While most people with Gómez–López-Hernández syndrome show moderate intellectual disability, one case (age 14) has resulted in normal learning and social skills without intervention.[4]
## Epidemiology[edit]
Most cases have been diagnosed in Latin America with five of the thirty-four being from Brazil.[2] Two of these Brazilians are related by blood (consanguinity) suggesting the possibility of Mendelian inheritance.[2] There has been one case of a Japanese patient with Gómez–López-Hernández syndrome so far.[9] Two Armenian cases and two from Europe have been identified, signaling that the perceived prevalence in Latin America may be short-lived as better diagnostic techniques and information about this syndrome become more widespread.[5]
## Eponym[edit]
Gómez–López-Hernández syndrome is named for Manuel Rodríguez Gómez[3] and Alejandro Lopez-Hernandez.[12]
## References[edit]
1. ^ a b c Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N (2009). "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". Pediatr Neurol. 40 (1): 58–62. doi:10.1016/j.pediatrneurol.2008.10.001. PMID 19068257.
2. ^ a b c d e f g h de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR (2014). "Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?". Pediatr Neurol. 50 (6): 612–5. doi:10.1016/j.pediatrneurol.2014.01.035. PMID 24690526.
3. ^ a b Gomez MR (1979). "Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome". Brain Dev. 1 (4): 253–6. doi:10.1016/s0387-7604(79)80039-x. PMID 95427. S2CID 4698879.
4. ^ a b c d e f g h i j k l m n o p q r s t Gomy I, Heck B, Santos AC, Figueiredo MS, Martinelli CE Jr, Nogueira MP, Pina-Neto JM (2008). "Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights". Am J Med Genet A. 146A (5): 649–57. doi:10.1002/ajmg.a.32173. PMID 18247421. S2CID 6105360.
5. ^ a b c d e Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A (2013). "Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria" (PDF). Eur. J. Pediatr. 169 (12): 1523–8. doi:10.1007/s00431-010-1259-7. PMID 20652311. S2CID 7101190.
6. ^ a b c d e f g Poretti A, Bartholdi D, Gobara S, Alber FD, Boltshauser E (2008). "Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis". Eur J Med Genet. 51 (3): 198–208. doi:10.1016/j.ejmg.2008.01.004. PMID 18342593.
7. ^ Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH (2014). "Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone". Am J Med Genet A. 164A (2): 480–3. doi:10.1002/ajmg.a.36276. PMID 24311025. S2CID 24479285.
8. ^ a b c Choudhri AF, Patel RM, Wilroy RS, Pivnick EK, Whitehead MT (2015). "GTrigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome". Am J Med Genet A. 167A (1): 238–42. doi:10.1002/ajmg.a.36830. PMID 25339626. S2CID 24540712.
9. ^ a b Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J (2015). "Gómez-López-Hernández syndrome in a Japanese patient: a case report". Brain Dev. 37 (3): 356–8. doi:10.1016/j.braindev.2014.05.002. PMID 24856766. S2CID 28604985.
10. ^ a b c Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH (2013). "Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria". Am J Med Genet A. 161A (2): 320–6. doi:10.1002/ajmg.a.35817. PMID 23292994. S2CID 22605993.
11. ^ Tan TY, McGillivray G, Goergen SK, White SM (2005). "GPrenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature". Am J Med Genet A. 138 (4): 369–73. doi:10.1002/ajmg.a.30967. PMID 16158443. S2CID 11532423.
12. ^ Lopez-Hernandez, A (2013). "Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases". Neuropediatrics. 13 (2): 99–102. doi:10.1055/s-2008-1059606. PMID 7133329.
## External links[edit]
Classification
D
* ICD-10: Q07.8
* OMIM: 601853
* MeSH: C537285
External resources
* Orphanet: 1532
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Gómez–López-Hernández syndrome
|
c0795959
| 26,054 |
wikipedia
|
https://en.wikipedia.org/wiki/G%C3%B3mez%E2%80%93L%C3%B3pez-Hern%C3%A1ndez_syndrome
| 2021-01-18T19:05:17 |
{"gard": ["229"], "mesh": ["C537285"], "umls": ["C0795959"], "orphanet": ["1532"], "wikidata": ["Q25324175"]}
|
A number sign (#) is used with this entry because of evidence that apolipoprotein C-II deficiency, or apolipoprotein type IB, is caused by homozygous or compound heterozygous mutation in the APOC2 gene (608083) on chromosome 19q13.
Description
Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB.
Clinical Features
Breckenridge et al. (1978) reported the first case of complete deficiency of apoC-II and high levels of triglycerides, in a 59-year-old man who had had chronic, gnawing, epigastric pain from the age of 18 years and diabetes for 11 years. His parents were second cousins. Injection of exogenous high-density lipoprotein reduced plasma triglycerides to values close to normal. In an inbred kindred of British origin, ascertained through a patient with chronic pancreatitis, Cox et al. (1978) found 8 homozygotes for apoC-II deficiency (including the proband). They all showed marked fasting chylomicronemia and triglyceridemia. Five of the 8 had suffered one or more attacks of pancreatitis, beginning at ages varying from 6 to 39 years. Heterozygotes could be identified by the ratio of apoC-II to apoC-III in VLDL and by the plasma lipoprotein lipase activation test. They had no xanthomas. Cox et al. (1978) suggested that the diet of the affected persons, who lived in the Caribbean, probably had until recently protected them from the ill effects of their genetic disease. If less than 15% of calories were derived from fat, reduction in triglycerides could be achieved.
Yamamura et al. (1979) described affected Japanese sister and brother, aged 13 and 15 years, respectively, from a first-cousin mating. Clinically normal, they were ascertained because of serum turbidity from chylomicronemia. Deficiency of apolipoprotein C-II was demonstrated. Heterozygotes had no abnormality of plasma lipid and lipoproteins in spite of reduced plasma apolipoprotein C-II. Saku et al. (1984) concluded that xanthomas and hepatosplenomegaly are less common in C-II anapolipoproteinemia than in lipoprotein lipase deficiency.
Baggio et al. (1986) studied a brother and sister, aged 41 and 39 years, respectively, with hyperlipoproteinemia type IB. Plasma triglycerides and chylomicrons were markedly elevated, whereas LDL and HDL were decreased. The brother had recurrent bouts of abdominal pain, often with eruptive xanthomas; the sister, identified by family screening, was asymptomatic. Both had hepatosplenomegaly. A variant of apoC-II, apoC-II(Padova), with lower apparent molecular weight and more acidic isoelectric point was found in both patients. The marked hypertriglyceridemia was corrected by infusion of normal plasma or the injection of a biologically active synthesized 44- to 79-amino acid residue peptide fragment of apoC-II. The effect persisted for 13 to 20 days after injection of the synthetic peptide.
Capurso et al. (1980, 1988) described 2 cases of apoC-II deficiency. Capurso et al. (1988) found that although apoC-II was undetectable in the plasma, apoC-II could be detected within the enterocytes of the intestinal mucosa. Nonfunctional mutant forms of apoC-II were detected in the plasma of apoC-II-deficient patients by Maguire et al. (1984). Although the molecular masses of these forms of the protein were similar to that of the functional protein, they did not activate lipoprotein lipase, could not form insoluble antigen-antibody complexes with polyclonal antibodies to apoC-II, and showed abnormal behavior in polyacrylamide gel isoelectric focusing.
Ohno et al. (1989) described the case of an infant discovered in the neonatal period to have apoC-II deficiency. Milky serum had been noticed at the time of serum bilirubin measurement 6 days after birth. At 7 days, he already showed eruptive xanthomas at many sites.
Wilson et al. (2003) reported an infant with apoC-II deficiency with massive hyperchylomicronemia and a severe 'lipid encephalopathy.' She presented at age 5 weeks with lethargy, macrocephaly, and marked hepatosplenomegaly. Drawn blood was grossly hyperlipemic ('strawberry cream-colored') and showed severe hypertriglyceridemia and hypercholesterolemia. Cranial MRI showed fatty collections in the posterior chambers of the eyes, marked cerebral atrophy, and extradural collections of fatty deposits. She showed severe neurologic abnormalities and developmental delay. Although a low-fat diet achieved biochemical control, she remained neurologically impaired. In the patient and her younger sister, Wilson et al. (2003) identified a homozygous mutation in the APOC2 gene (608083.0012). The parents, who were related, and all unaffected sibs were heterozygous for the mutation.
Mapping
In 2 families with apoC-II deficiency, Humphries et al. (1984) found linkage to the APOC2 structural gene on chromosome 19.
Molecular Genetics
In studies of the family with hyperlipoproteinemia type IB reported by Cox et al. (1978), Connelly et al. (1987) identified 14 homozygotes and 23 obligate heterozygotes in the extended pedigree. In affected members of this family, Connelly et al. (1987) and Cox et al. (1988) demonstrated a 1-bp deletion in the APOC2 gene (608083.0004).
In a patient with the apoC-II(Padova) variant, such as those described by Baggio et al. (1986), Fojo et al. (1989) identified a mutation in the APOC2 gene (608083.0002).
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Lipemia retinalis (in severe cases) ABDOMEN Liver \- Hepatomegaly Pancreas \- Pancreatitis Spleen \- Splenomegaly SKIN, NAILS, & HAIR Skin \- Eruptive xanthomas LABORATORY ABNORMALITIES \- Hypertriglyceridemia \- Decreased plasma apolipoprotein C-II \- Fasting chylomicronemia \- 'Cloudy' or 'pink' blood (lipemia) MISCELLANEOUS \- Transfusion of plasma, which has apoC-II, causes decrease in plasma triglycerides MOLECULAR BASIS \- Caused by mutation in the apolipoprotein C-II gene (APOC2, 608083.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
APOLIPOPROTEIN C-II DEFICIENCY
|
c1720779
| 26,055 |
omim
|
https://www.omim.org/entry/207750
| 2019-09-22T16:30:53 |
{"mesh": ["D008072"], "omim": ["207750"], "orphanet": ["444490", "309020"], "synonyms": ["HYPERLIPOPROTEINEMIA, TYPE IB", "Alternative titles", "APOC2 DEFICIENCY", "C-II ANAPOLIPOPROTEINEMIA"]}
|
A number sign (#) is used with this entry because of evidence that hyperphosphatemic familial tumoral calcinosis-1 (HFTC1) is caused by homozygous or compound heterozygous mutation in the GALNT3 gene (601756) on chromosome 2q24.
Description
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.
HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
### Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis
Also see HFTC2 (617993), caused by mutation in the FGF23 gene (605380) on chromosome 12p13, and HFTC3 (617994), caused by mutation in the KL gene (604824) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.
Clinical Features
Inclan et al. (1943) first gave the name 'tumoral calcinosis' to this condition, which was first described by Giard (1898) and then by Duret (1899). Ghormley (1942) reported multiple affected sibs.
Baldursson et al. (1969) observed 4 affected sibs out of 12 in a black family. Hyperphosphatemia was documented as early as 21 months of age in one of them in whom tumoral calcinosis appeared at 4 years of age. A majority of the cases of this condition reported in the Anglo-American literature have been in blacks. Other familial cases were reported by Barton and Reeves (1961), Harkess and Peters (1967), and Wilber and Slatopolsky (1968). Dodge et al. (1965) described 3 sibs with heterotopic calcification, hyperphosphatemia, unresponsiveness to parathyroid hormone (PTH; 168450), and elevated renal tubular maximum for phosphate reabsorption. Stigmata of Albright hereditary osteodystrophy (AHO; see 103580) were not present.
Some reported patients have had angioid streaks of the retina (see 607140) (McPhaul and Engel, 1961). This is consistent with the view that angioid streaks in pseudoxanthoma elasticum (PXE; 264800), sickle cell anemia (603903), and Paget disease (167250) are due to a brittle state of Bruch membrane produced by deposition of calcium, iron, and perhaps other cations.
McPhaul and Engel (1961) reported affected brothers; in another family the proband's paternal grandfather was thought to have been affected and he was related to a family reported as PXE. From Beirut, Najjar et al. (1968) described 2 sibs with periarticular calcified masses, increased blood phosphorus, normal blood calcium, calcified vessels, and skin changes of PXE. The parents may have been related. An aunt was said to have heterotopic calcification. In a review of the radiologic findings of PXE, James et al. (1969) pictured a large calcified mass in the region of the elbow. The patient probably had the entity discussed here, which was called 'lipocalcinogranulomatose' by Teutschlaender (1935).
Collard (1966) described 2 affected sisters in a sibship of 5. Calcification of the media was limited to arteries of the leg. The parents were normal and unrelated. Large calcified tophus-like nodules were situated around the joints of the fingers and toes. Although rheumatic symptoms had begun at age 20 in both, the sisters were in their 50s at the time of report.
McClatchie and Bremner (1969) reported 26 cases from Kenya, where the condition has an unusually high frequency. Until the publication of the papers by Palmer (1966) and Thomson (1966), only 25 cases had been reported; they reported an additional 50 cases, mostly from Rhodesia, and mentioned seeing others in Nigeria and elsewhere. McClatchie and Bremner (1969) documented its occurrence in Uganda. Eight different Kenyan tribes were represented among 17 cases.
Melhem et al. (1970) reported 2 unrelated children with episodic pain, swelling, and heat involving several bones of the extremities. One child had rib involvement. Radiographic examination showed periosteal reaction with hyperostosis that healed completely. Both children also had unexplained hyperphosphatemia. Osteomyelitis was ruled out in both cases. The authors suggested decreased renal tubular phosphate excretion and postulated a relation of the disorder to tumoral calcinosis. The patient reported by Goldbloom et al. (1966) as having periosteal periostosis may have also had the same disorder. Altman and Pomerance (1971) suggested that the patient they reported as having chronic polyostotic periostitis (Altman and Pomerance, 1961) may have had the same disorder, although that patient had only 1 documented episode of hyperphosphatemia.
Hacihanefioglu (1978) reported 11 patients with tumoral calcinosis from Turkey. Balachandran et al. (1980) reported a family in which 7 of 15 sibs were affected.
Goldfarb (1979) proposed an intrinsic defect in phosphate handling by the proximal renal tubule leading to increased reabsorption (Mitnick et al., 1980; Zerwekh et al., 1980). Involvement at the shoulders and buttocks was common.
Mikati et al. (1981) described hyperphosphatemia associated with cortical hyperostosis in 6 children. All presented with recurrent episodes of swelling, pain, and tenderness of the long bones. Bone biopsies of 3 patients showed periosteal new bone formation. Serum phosphate levels were persistently elevated and serum calcium levels were normal.
Prince et al. (1982) reported a sibship in which 7 of 13 sibs were affected. Serum phosphorus and 1,25-dihydroxycholecalciferol concentrations were increased and parathormone and 25-hydroxycholecalciferol concentrations decreased. Balance studies indicated increased gastrointestinal absorption and decreased renal excretion of calcium and phosphorus. The authors interpreted the data to indicate a hereditary abnormality of vitamin D metabolism, and suggested a defect in the normal feedback mechanism regulating the 25-hydroxy-1-alpha-hydroxylase enzyme.
Clarke et al. (1984) studied 3 black children, including 2 sibs, who presented with recurrent pain and swelling of the legs. In addition to tumoral calcinosis and hyperphosphatemia, the children showed hyperostosis of diaphyses of long bones of the leg. The authors suggested that the syndrome of hyperostosis and hyperphosphatemia reported by Mikati et al. (1981) was fundamentally the same disorder despite the lack of tumoral calcinosis.
Steinherz et al. (1985) observed 5 affected persons in 2 branches of a Druze Arab kindred. The patients presented with calcified deposits in or about the hips and knees beginning in childhood. The authors concluded that serum calcitriol levels do not decline in response to hyperphosphatemia and that hyperphosphatemia with elevated renotubular reabsorption of phosphate is a constant feature of this disorder. Low phosphorus diet and oral aluminum hydroxide gel did not lower serum phosphate levels or improve the calcified deposits.
Lyles et al. (1985) studied a kindred previously reported by McPhaul and Engel (1961). Nine affected persons were identified in 4 generations, suggesting autosomal dominant inheritance. They used a unique dental lesion as a phenotypic marker. The teeth were hypoplastic but had fully developed enamel of normal color. Panoramic x-rays showed short, bulbous roots and almost complete obliteration of pulp cavities. Histologic studies showed that dentin in the radicular portion was deposited in swirls, and true pulp stones almost completely filled the pulp cavity. Elevated serum 1,25-dihydroxyvitamin D levels were found in all affected persons even though some did not show classic findings of tumoral calcinosis.
Talab and Mallouh (1988) reported a 6-year-old girl with hyperostosis with hyperphosphatemia and noted that only 8 other cases had been previously reported. Clinical features included repeated attacks of bone pain and swelling, radiographic findings of periosteal reaction with cortical hyperostosis, and increased serum phosphorus with normal serum calcium and parathyroid hormone.
Wilson et al. (1989) reported hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis in a 9-year-old black girl. There was no family history of the disorder. The report suggested a common pathogenesis between the 2 disorders.
Slavin et al. (1993) reviewed the histopathologic and ultrastructural changes of tumoral calcinosis occurring in 7 affected sibs in a sibship of 15. This was the black family cared for in Galveston, Texas, over a period of 25 years and described in the medical literature a total of 9 times (i.e., Abbud et al., 1979; Balachandran et al., 1980; Baldursson et al., 1969; Chausmer et al., 1982; Clarke et al., 1984; Prince et al., 1982; Pursley et al., 1979; Viegas et al., 1985; Witcher et al., 1989). A useful summary of the clinical findings in the 7 patients was provided. In order of frequency for the site of first lesions, hips, elbows, shoulders, and scapulae led the list. All 7 patients has elevated serum phosphorus levels, and elevated levels of 1,25-vitamin D were detected in 3. One patient, who also had calcinosis cutis involving the antecubital, popliteal, and axillary areas and legs, died at age 19 of pulmonary hypertension. The other sibs varied in age from 20 to 40 years at the time of this report. Onset had varied from 22 months to 5 years of age. Three of the sibs were males. Slavin et al. (1993) concluded that tumoral calcinosis is triggered by bleeding, followed by aggregation of foamy histiocytes. These, in turn, are transformed, with participation of collagenolysis, into cystic cavities lined by osteoclast-like giant cells and histiocytes, resulting in lesions resembling adventitious bursae. Movement and friction resulting from the periarticular location of the lesions were thought to be key to this transformation.
Narchi (1997) reported 2 sisters, born of consanguineous Saudi Arabian parents, with hyperostosis with hyperphosphatemia. Symptoms first appeared at ages 8 and 5 years, respectively. The older girl had warm and tender swelling of the lower third of the right tibia which resolved after several days, but recurred 5 and 6 months later in the opposite tibia. At age 11 years, she developed a 5-cm painless swelling in her right ankle. Radiographs showed multiple loculated, calcified densities which were proven to be tumoral calcinosis on histologic examination. Her younger sister had similar symptoms and radiographs showed a laminated onion skin appearance of a periosteal reaction with porotic and mild sclerotic changes of affected bones. A third unrelated girl had recurrent nonmigratory bilateral leg and arm pain since age 6 years. All 3 patients had increased serum phosphate, normal serum parathyroid hormone, normal serum vitamin D, and normal serum calcium. The co-occurrence of tumoral calcinosis in 1 child suggested a common pathogenic abnormality. Narchi (1997) noted that the recurrent episodes of bone pain and swelling were often misdiagnosed as osteomyelitis or septic arthritis.
Adams et al. (1999) described a brother and sister of Iranian descent with histologically and radiologically proven tumoral calcinosis who presented with cerebral and peripheral aneurysms. The brother died of a ruptured subclavian artery aneurysm after surgical repair of brachial, iliofemoral, and celiac axis aneurysms. Magnetic resonance and catheter angiography in the sister demonstrated marked carotid dysplasia and a left ophthalmic segment aneurysm, not amenable to treatment.
Ichikawa et al. (2006) reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. A radiologic skeletal survey showed no evidence of ectopic calcification or hyperostosis, but the patient was noted to have more calcified costal cartilage than typical for her age. While eyelid calcification had been described in tumoral calcinosis, the authors found no reports of the disorder presenting with isolated eyelid calcifications. Ichikawa et al. (2006) suggested that the finding of a patient with a milder phenotype carrying mutations in GALNT3 may indicate that tumoral calcinosis is more common than had been thought, with a range of milder phenotypes. That the condition could become more aggressive in the patient could not be excluded.
Ichikawa et al. (2010) reported 4 unrelated patients with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis. One child, born of first-degree cousins from Sri Lanka, presented with painful left lower leg swelling which was found to be hyperostosis of the tibia with circumferential endosteal and periosteal bone formation; there was evidence of infection. In the following 2 years, she developed periarticular calcified lesions in the elbow, consistent with tumoral calcinosis. Another patient was a Greek woman who presented at age 8 years with a tibial lesion involving the cortical and trabecular bones with subperiosteal ossification. At age 14, she had subcutaneous calcified lesions of the upper thigh and left hand. Laboratory studies in both patients showed increased serum phosphorus, normal calcium, and inappropriately low/normal 1,25-(OH)2D. There were also low levels of intact circulating FGF23 and increased C-terminal FGF23 fragments. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23.
Clinical Management
Mozaffarian et al. (1972) proposed treatment with a low-phosphorus diet combined with large oral doses of aluminum hydroxide.
In a review, Martinez (2002) noted that regression of the masses has been reported after treatment with phosphate-binding antacids (aluminum hydroxide) together with dietary phosphate and calcium deprivation (Mozaffarian et al., 1972; Davies et al., 1987; Gregosiewicz and Warda, 1989). Reducing phosphate levels in this way can also assist in preventing recurrence of the calcific mass. Calcific masses are excised when appropriate.
Heterogeneity
The product of the GALNT3 gene may not be the sole regulator of phosphate homeostasis in peripheral tissues, as tumoral calcinosis can also present with normal blood phosphate levels. Using haplotype analysis in 4 families with normophosphatemic familial tumoral calcinosis, Topaz et al. (2004) excluded linkage of this variant to 2q24-q31, suggesting that normophosphatemic and hyperphosphatemic familial tumoral calcinosis may be caused by mutation in different genes.
Molecular Genetics
Topaz et al. (2004) studied the large Druze and African American kindreds with familial tumoral calcinosis described by Steinherz et al. (1985) and Slavin et al. (1993), respectively. They mapped the gene underlying the disorder to 2q24-q31 and demonstrated biallelic deleterious mutations in the GALNT3 gene (601756.0001-601756.0003) in all affected individuals. The GALNT3 gene encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation, suggesting that defective posttranslational modification underlies this disorder.
In affected members of a multigenerational family previously reported by McPhaul and Engel (1961) and Lyles et al. (1985), Ichikawa et al. (2005) identified biallelic mutations in the GALNT3 gene. The proband was compound heterozygous for 2 mutations (601756.0002 and 601756.0004), and the affected maternal great uncle was homozygous for 1 of the mutations (601756.0004). The family had originally been thought to show autosomal dominant inheritance, but biallelic mutations found in 2 generations demonstrated that the family had pseudoautosomal dominant inheritance. The findings confirmed that tumoral calcinosis is in fact an autosomal recessive trait.
In 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome, Frishberg et al. (2005) identified homozygosity for a mutation in the GALNT3 gene (601756.0001). The mutation had previously been identified in a large Druze family with HFTC, indicating that the 2 disorders are allelic. Haplotype analysis confirmed a founder effect.
Specktor et al. (2006) identified a homozygous mutation in the GALNT3 gene (601756.0005) in an HFTC patient of northern European origin, suggesting that the disease may have a wider geographic distribution than previously thought. The 32-year-old man had severe joint disease and dental anomalies.
Ichikawa et al. (2006) reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis who was compound heterozygous for missense mutations in the GALNT3 gene (see 601756.0008).
Ichikawa et al. (2010) reported 4 unrelated patients with hyperphosphatemia and recurrent calcified deposits in the bones or soft tissue associated with homozygous mutations in the GALNT3 gene (see, e.g., 601756.0011-601756.0012). One patient had a diagnosis of tumoral calcinosis, 1 hyperostosis-hyperphosphatemia syndrome, and 2 had diagnosis of both disorders. There were low levels of intact serum FGF23 and high levels of C-terminal FGF23 fragments in all 3 patients examined. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Angioid streaks, retina \- Conjunctival irritation \- Conjunctival whitish 'salt-like' deposits Teeth \- Obliterated tooth pulp cavities \- Pulp stones \- Thin dental enamel \- Disturbed root development \- Short blunt tooth roots \- Taurodontism \- Swirled radicular dentin deposits CARDIOVASCULAR Vascular \- Vascular calcifications GENITOURINARY Kidneys \- Increased renal tubular phosphate reabsorption \- Decreased renal tubular phosphate excretion \- Calcinosis of the renal parenchyma SKELETAL \- Tumoral calcinosis \- Ectopic periarticular calcified masses, painful (hip, elbow, shoulder) \- Progressive deposition of basic calcium phosphate crystals Limbs \- Painful swellings of the long bones, acute, recurrent attacks \- Cortical hyperostosis \- Periosteal reaction \- Diaphysitis \- Radiography shows porotic changes \- Sclerosis SKIN, NAILS, & HAIR Skin \- Deposition of calcium phosphate crystals in skin and subcutaneous tissues LABORATORY ABNORMALITIES \- Hyperphosphatemia \- Normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol) \- Increased serum FGF23 \- Normal serum calcium \- Normal serum parathyroid hormone (PTH) \- Increased percent tubular reabsorption of phosphorus MISCELLANEOUS \- Onset in first decade of life \- Variable manifestations \- High prevalence among individuals of Middle Eastern or African descent \- Heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol MOLECULAR BASIS \- Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 gene (GALNT3, 601756.0001 ) \- Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0003 ) \- Caused by mutation in the klotho gene (KL, 604824.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
c0263628
| 26,056 |
omim
|
https://www.omim.org/entry/211900
| 2019-09-22T16:30:17 |
{"doid": ["0111063"], "mesh": ["D002114"], "omim": ["211900"], "orphanet": ["306661", "53715"], "synonyms": ["CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA", "MORBUS TEUTSCHLAENDER", "TEUTSCHLAENDER DISEASE, FAMILIAL", "CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA", "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME", "HYPEROSTOSIS WITH HYPERPHOSPHATEMIA", "Hypercalcemic tumoral calcinosis", "TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC", "Alternative titles", "LIPOCALCINOGRANULOMATOSIS"], "genereviews": ["NBK476672"]}
|
Histopathology of chondroid syringoma
A chondroid syringoma is a well circumscribed but unencapsulated, multilobulated sweat gland-derived tumor.[1] It is centered in the deep dermis or subcutaneous fat.[1] Microscopically it is a mixed tumor, characterized by prominent chondroid or myxoid stroma enveloping benign bland appearing epithelial and myoepithelial cells.[1] Its malignant counterpart is malignant chondroid syringoma.
## References[edit]
1. ^ a b c "Chondroid syringoma". PathologyOutlines. Minor changes: 6 November 2020
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chondroid syringoma
|
c0346026
| 26,057 |
wikipedia
|
https://en.wikipedia.org/wiki/Chondroid_syringoma
| 2021-01-18T19:07:04 |
{"umls": ["C0346026"], "wikidata": ["Q18554986"]}
|
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding type II collagen disorders and their management.
The following are the goals of this overview.
### Goal 1.
Describe the clinical characteristics of type II collagen disorders.
### Goal 2.
Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband.
### Goal 3.
Inform genetic counseling of family members of an individual with a type II collagen disorder.
### Goal 4.
Review management of type II collagen disorders.
## Diagnosis
## Clinical Characteristics
## Differential Diagnosis
The differential diagnosis of type II collagen disorders includes a range of disorders from severe, often lethal skeletal dysplasia with abnormal ossification and major skeletal abnormalities, to milder conditions with limited clinical and radiographic findings. Disorders with a known genetic etiology are listed (from most to least severe) in Table 2a; disorders of unknown or multifactorial etiology are listed in Table 2b.
### Table 2a.
Disorders with Known Genetic Etiology to Consider in the Differential Diagnosis of Type II Collagen Disorders
View in own window
Type II Collagen
DisorderDifferential Diagnosis DisorderGene(s)MOIClinical Features of Differential Diagnosis Disorder
Overlapping w/type II collagen disordersDistinguishing from type II collagen disorders
Most severe 1 –
achondrogenesis type II; hypochondrogenesis;
platyspondylic dysplasia, Torrance typeSevere OI (see COL1A1/2-OI)COL1A1
COL1A2
CRTAP
P3H1 (LEPRE1)
PPIBAD
AR
* Poor/delayed ossification
* Short limbs
* Multiple fractures & deformities of long bones
* No extraskeletal type II collagen characteristic abnormalities 2
HypophosphatasiaALPLAD
ARPoor/delayed ossification
* Absent ossification of the skull
* Absent ossification of posterior elements of vertebrae
* Low serum ALP
* No extraskeletal type II collagen characteristic abnormalities 2
Achondrogenesis type 1A
(OMIM 200600)TRIP11AR
* Poor/delayed ossification
* Hydropic appearance
* Poorly ossified skull bones
* Short, thin, easily fractured ribs
* Tubular bones more severely shortened & bowed
Achondrogenesis type 1BSLC26A2AR
* Poor ossification
* Flat face, short neck
* Hydropic appearance
* Crescent-shaped ilia
* Extremely short limbs w/loss of longitudinal orientation
* Short fingers & toes
* Hypoplasia of thorax
* Protuberant abdomen
Atelosteogenesis type 2SLC26A2AR
* Often delayed ossification of upper thoracic vertebra & pubic bone
* Short limbs
* Cleft palate, distinctive facial features (midface retrusion, depressed nasal bridge, micrognathia)
* Hitchhiker (abducted) thumbs
* Poor/delayed ossification less severe than severe type II collagen disorder
* Distal tapering of humeri
* Hypoplastic fibulae
Diastrophic dysplasiaSLC26A2AR
* Short limbs
* Spine & joint deformities
Hitchhiker thumbs/toes
Dyssegmental dysplasia, Silverman-Handmaker type (OMIM 224410)
(may include Rolland-Desbuquois type)HSPG2AR
* Narrow chest
* Short limbs
* Cleft palate
* Vertebral disorganization
* Marked differences in size & shape of vertebral bodies (anisospondyly)
* Bowed long bones
Severe to
moderately
severe –
Kniest dysplasia; SEDC; SEMD, Strudwick typeMetatropic dysplasia
(see TRPV4-Associated DisordersTRPV4AD
* Limb shortening
* Spine & joint deformities
* Narrow transverse diameter of thorax
* Vertebral bodies diamond/oval shape, no coronal clefts
* Medially placed (inset) pedicles
* More distal flaring in femur & proximal tibia
* Most often no facial, ophthalmic, or auditory abnormalities 2
* Normal ossification of skeleton
Intermediate
severity –
spondyloperipheral dysplasia; SED w/metatarsal shortening (Czech dysplasia); 3 Stickler syndrome type 1MED, ADCOL9A1
COL9A2
COL9A3
COMP
MATN3ADPresents in early childhood, usually w/pain in hips &/or knees
* No facial, ophthalmic, or auditory abnormalities 2
* Often no spine involvement
MED, recessiveSLC26A2AR
* Presents in early childhood, usually w/pain in hips &/or knees
* Brachydactyly
* No facial, ophthalmic, or auditory abnormalities 2
* Clubfeet
* Cleft palate
* Double-layered patella observed on lateral knee radiographs in 60%
* Often no spine involvement
Progressive pseudorheumatoid dysplasia
(SED w/progressive arthropathy)CCN6AR
* Joint pain, multiple joint contractures, & prominent interphalangeal joints
* Short stature
* Moderate platysplondyly
* Widening of the metaphyses, enlarged ephiphyses
* Early osteoarthritis
* No facial, ophthalmic, or auditory abnormalities 2
* Toes are distinct from SED w/metatarsal shortening 3
Stickler syndrome types 2, 3, 4, & 5COL11A1
COL11A2
COL9A1
COL9A2
COL9A3AD
AR
* Craniofacial, ophthalmic, & auditory abnormalities
* Skeletal manifestations on x-ray (spondyloepiphyseal dysplasia) & joint involvement
* Ophthalmologic complications often less severe than Stickler type 1
* Ocular phenotypes in other Stickler subtypes most often comprise type 2 congenital vitreous anomaly ("beaded" vitreous phenotype).
AD = autosomal dominant; ALP = alkaline phosphatase test; AR = autosomal recessive; OI = osteogenesis imperfecta; MED = multiple epiphyseal dysplasia; MOI = mode of inheritance; SED = spondyloepiphyseal dysplasia; SEDC = spondyloepiphyseal dysplasia congenita; SEMD = spondyloepimetaphyseal dysplasia
1\.
Can be very difficult to distinguish antenatally
2\.
Comprising characteristic type II collagen ocular, auditory, and orofacial abnormalities (i.e., high myopia, retinal detachment, hearing impairment, Pierre Robin sequence)
3\.
Shortening of the third and/or fourth toes is a classic distinguishing hallmark of SED with metatarsal shortening (Czech dysplasia).
### Table 2b.
Disorders of Unknown Etiology to Consider in the Differential Diagnosis of Type II Collagen Disorders
View in own window
Type II Collagen DisorderDifferential Diagnosis DisorderClinical Features of Differential Diagnosis Disorder
Overlapping w/type II collagen disordersDistinguishing from type II collagen disorders
Intermediate severity –
spondyloperipheral dysplasia; SED w/metatarsal shortening (Czech dysplasia) 1; Stickler syndrome type 1Juvenile idiopathic arthritisPresents in childhood, usually w/joint painNo facial, ophthalmic, or auditory abnormalities 3
Calve-Legg Perthes 2Presents in childhood, usually w/hip pain
* No facial, ophthalmic, or auditory abnormalities 3
* Often unilateral, & if bilateral (10%-15% of cases) often asynchronous involvement (femoral heads in different stages of disease) 2
* No spine involvement
Mild severity –
mild SED w/premature arthrosisRheumatoid arthritis
* Joint pain
* Radiographic skeletal changes of osteoarthritis
More pronounced clinical & laboratory signs of inflammation
Juvenile idiopathic arthritisJoint pain
* No facial, ophthalmic, or auditory abnormalities 3
* Often presents at younger age
AD = autosomal dominant; ALP = alkaline phosphatase test; AR = autosomal recessive; MED = multiple epiphyseal dysplasia; MOI = mode of inheritance; OI = osteogenesis imperfecta; SED = spondyloepiphyseal dysplasia; SEDC = spondyloepiphyseal dysplasia congenita; SEMD = spondyloepimetaphyseal dysplasia
1\.
Shortening of the third and/or fourth toes is a classic distinguishing hallmark of spondyloepiphyseal dysplasia (SED) with metatarsal shortening (Czech dysplasia).
2\.
COL2A1 pathogenic variants have been associated with a Calve-Legg-Perthes-like phenotype (more accurately dysplastic proximal femoral epiphyses). Bilateral hip involvement, especially symmetrical and synchronous, is suggestive of a type II collagen disorder. Bilateral involvement of femoral heads (including different stages of severity) warrant further attention and workup in general.
3\.
Comprising characteristic type II collagen ocular, auditory, and orofacial abnormalities (i.e., high myopia, retinal detachment, hearing impairment, PRS)
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with type II collagen disorders, 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 Type II Collagen Disorders
View in own window
System/ConcernEvaluationComment
SkeletonComplete radiographic survey if indicated
* Often already performed in order to establish diagnosis
* To asses extent of skeletal malformations
Cervical spine
* Flexion-extension radiograph
* Flexion-extension MRI if instability & compression seen on radiographs or interpretation on radiographs is limited (e.g., in young individuals w/delayed ossification in upper cervical spine)
Evaluate for cervical instability & risk of spinal cord compression.
Thoracolumbar spineClinical examination & radiographs where indicatedEvaluate for progressive scoliosis.
Respiratory
* Pulmonary function tests
* Polysomnography
* To assess extent of respiratory insufficiency in severe presentations (PRS, small thorax, pulmonary hypoplasia)
* To identify sleep apnea (central sleep apnea due to unrecognized unstable cervical spine, obstructive sleep apnea due to tracheobronchomalacia & cleft palate sequelae)
* To identify respiratory insufficiency in those w/severe kyphoscoliosis
EyesDilated eye examinationPreferably by an expert ophthalmologist familiar w/the ophthalmic complications (e.g., high myopia, vitreous changes, retinal detachment, early cataract, vision problems, blindness)
ENT/Mouth
* Hearing evaluation
* Evaluation for cleft palate
FeedingSwallowing assessmentIn individuals w/PRS
Musculoskeletal
* Clinical examination
* Referral to orthopedic surgeon if indicated
* Referral to physiotherapist if indicated
Functional testing / activities of daily living should be considered.
GeneticsConsultation w/clinical geneticist &/or genetic counselor
Psychosocial issues
* Awareness
* Referral to resources
Issues related to (e.g.) short stature, dysmorphic facial features, poor eyesight &/or hearing impairment, pain
Adapted from Savarirayan et al [2019]
PRS = Pierre Robin sequence
### Treatment of Manifestations
### Table 4.
Treatment of Manifestations in Individuals with Type II Collagen Disorders
View in own window
Manifestation/
ConcernTreatmentConsiderations/Other
Cervical spine instability w/spine compressionSurgical management for medullopathy (C1-C2 fixation)Management by an expert familiar w/rare skeletal dysplasia & spine involvement
ScoliosisSurgery for severe, progressive scoliosisIn young children, progressive scoliosis can be treated non-surgically (e.g., brace).
Respiratory insufficiency
* Supported ventilation, CPAP
* Surgery of cleft palate
Sleep apnea
* Referral to pulmonologist & sleep medicine physician
* Supported ventilation, CPAP, surgery of PRS
In case of central sleep apnea due to unrecognized unstable cervical spine, referral for evaluation & management
Cleft palateSurgery
High myopia, vitroretinal complications, & early cataract
* Refractive errors should be corrected w/spectacles.
* Individuals at risk should be informed about signs & symptoms of retinal detachment, & should be advised about immediate evaluation & treatment, when symptoms occur.
* Management of vitreoretinal complications by an expert ophthalmologist familiar w/the ophthalmic complications.
* Consider prophylactic retinopexy in Stickler syndrome type 1 (COL2A1-related)
Hearing impairmentHearing aids &/or surgery if indicated
Joint problems (laxity, contractures, pain due to early-onset arthrosis)
* Referral to orthopedic surgeon for evaluation
* Referral to physiotherapist
* Referral to occupational therapist if indicated
* Analgesics
* Advice on joint-friendly activities (e.g., swimming, cycling)
* Consider need for a mobility device.
* Avoidance of physical activities that strain joints, when possible
Lower-limb malalignment
* Guided growth surgery
* Osteotomy
ObesityReferral to clinical nutritionistEven if weight is normal, importance of avoiding obesity should be emphasized.
Psychosocial problems
* Referral to resources
* Referral to psychologist
Adapted from Savarirayan et al [2019]
CPAP = continuous positive airway pressure
### Surveillance
### Table 5.
Recommended Surveillance for Individuals with Type II Collagen Disorders
View in own window
System/
ConcernEvaluationFrequency
General healthPhysical examinationAnnually or as indicated
Cervical spine
* Flexion-extension radiograph
* Flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs
Every 2-3 yrs in those w/severe type II collagen disorder & no instability
Thoracolumbar spine
* Clinical examination
* Radiographs when indicated
Every 6-12 mos, depending on severity
Respiratory
* Pulmonary function tests
* Polysomnography
On a regular basis in individuals w/severe type II collagen disorder or severe, progressive kyphoscoliosis
EyesDilated eye examination
* Annually unless complications
* Consider prophylactic retinopexy in Stickler syndrome type 1 (COL2A1-related)
ENT/
Mouth
* Hearing evaluation
* Evaluation for cleft palate & palatal insufficiency
Every 6-12 mos depending on severity
FeedingSwallowing assessmentOn a regular basis until normal feeding
Musculoskeletal
* Clinical examination
* Referral to orthopedic surgeon if indicated
* Referral to physiotherapist if indicated
Annually or as indicated
ObesityWeightAnnually or as indicated
Psychosocial concernsSpecific attention to any issues when taking history & during physical examinationAnnually or as indicated
Adapted from Savarirayan et al [2019]
### Agents/Circumstances to Avoid
In individuals with cervical spine instability, extreme neck extension and neck flexion and contact sports should be avoided.
In case of general anesthesia, the cervical spine should be assessed by imaging prior to the procedure [White et al 2017].
### Evaluation of Relatives at Risk
It is appropriate to clarify the clinical/genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from regular surveillance in order to avoid/prevent common complications. Evaluations can include:
* Molecular genetic testing if the pathogenic variant in the family is known;
* Clinical examination, radiographs, eye examination, and hearing evaluation if the pathogenic variant in the family is not known.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
In individuals with a small pelvis, delivery by cesarean section should be considered. However, each individual should be assessed by an obstetrician familiar with skeletal dysplasia [Savarirayan et al 2018].
### 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
|
Type II Collagen Disorders Overview
|
None
| 26,058 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK540447/
| 2021-01-18T20:52:01 |
{"synonyms": []}
|
2,4 Dienoyl-CoA reductase deficiency
Other namesDECRD
2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. Lysine degradation is also affected in this disorder leading to hyperlysinemia. The disorder is inherited in an autosomal recessive manner, meaning an individual must inherit mutations in NADK2, located at 5p13.2 from both of their parents.[1] NADK2 encodes the mitochondrial NAD kinase. A defect in this enzyme leads to deficient mitochondrial nicotinamide adenine dinucleotide phosphate levels. 2,4 Dienoyl-CoA reductase, but also lysine degradation are performed by NADP-dependent oxidoreductases explaining how NADK2 deficiency can lead to multiple enzyme defects.[2]
2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia. Laboratory investigations revealed elevated lysine, low levels of carnitine and an abnormal acylcarnitine profile in urine and blood. The abnormal acylcarnitine species was eventually identified as 2-trans,4-cis-decadienoylcarnitine, an intermediate of linoleic acid metabolism.[1] The index case died of respiratory failure at four months of age.[1][3] Postmortem enzyme analysis on liver and muscle samples revealed decreased 2,4-dienoyl-CoA reductase activity when compared to normal controls.[1] A second case with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy was reported in 2014.[2]
2,4-Dienoyl-CoA reductase deficiency was included as a secondary condition in the American College of Medical Genetics Recommended Uniform Panel for newborn screening. Its status as a secondary condition means there was not enough evidence of benefit to include it as a primary target, but it may be detected during the screening process or as part of a differential diagnosis when detecting conditions included as primary target.[4][5] Despite its inclusion in newborn screening programs in several states for a number of years, no cases have been identified via neonatal screening.[6]
## References[edit]
1. ^ a b c d "222745 2,4-DIENOYL-CoA REDUCTASE 1; DECR1". Johns Hopkins University. Retrieved 2013-12-01.
2. ^ a b Sander, Houten; Denis, Simone; te Brinke, Heleen; Jongejan, Aldo; van Kampen, Antoine H.C.; Bradley, Edward J.; Baas, Frank; Hennekam, Raoul C.M.; Millington, David S.; Young, Sarah P.; Frazier, Dianne M.; Gucsavas-Calikoglu, Muge; Wanders, Ronald J.A. (2014). "Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia". Human Molecular Genetics. 23 (18): 5009–5016. doi:10.1093/hmg/ddu218. PMID 24847004.
3. ^ Morris, Andrew A.M.; Spiekerkoetter, Ute (2012). "Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways". In Saudubray, Jean-Marie; van den Berghe, Georges; Walter, John H. (eds.). Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 201–216. ISBN 978-3-642-15719-6.
4. ^ Watson, M. S.; Mann, M. Y.; Lloyd-Puryear, M. A.; Rinaldo, P.; Howell, R. R. (2006). "Executive Summary". Genetics in Medicine. 8 (Suppl 1): 1S–252S. doi:10.1097/01.gim.0000223891.82390.ad. PMC 3111605. PMID 16783161.
5. ^ American College of Medical Genetics Newborn Screening Expert Group (2006). "Newborn screening: Toward a uniform screening panel and system--executive summary". Pediatrics. 117 (5 Pt 2): S296–S307. doi:10.1542/peds.2005-2633I. PMID 16735256.
6. ^ "2,4-Dienoyl-CoA Reductase Deficiency". Baby's First Test. Retrieved 2013-12-30.
## External links[edit]
Classification
D
* OMIM: 222745
* MeSH: C565624
* v
* t
* e
Inborn error of lipid metabolism: fatty-acid metabolism disorders
Synthesis
* Biotinidase deficiency (BTD)
Degradation
Acyl
transport
* Carnitine
* CPT1
* CPT2
* CDSP
* CACTD
* Adrenoleukodystrophy (ALD)
Beta
oxidation
General
* Acyl CoA dehydrogenase
* Short-chain SCADD
* Medium-chain MCADD
* Long-chain 3-hydroxy LCHAD
* Very long-chain VLCADD
* Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy
Unsaturated
* 2,4 Dienoyl-CoA reductase deficiency (DECRD)
Odd chain
* Propionic acidemia (PCC deficiency)
Other
* 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD)
* Glutaric acidemia type 2 (MADD)
To
acetyl-CoA
* Malonic aciduria (MCD)
Aldehyde
* Sjögren–Larsson syndrome (SLS)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
2,4 Dienoyl-CoA reductase deficiency
|
c1857252
| 26,059 |
wikipedia
|
https://en.wikipedia.org/wiki/2,4_Dienoyl-CoA_reductase_deficiency
| 2021-01-18T19:09:07 |
{"gard": ["10327"], "mesh": ["C565624"], "umls": ["C1857252"], "orphanet": ["431361"], "wikidata": ["Q4596783"]}
|
Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.
## Frequency
Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide.
## Causes
Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals.
A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
### Learn more about the gene associated with Succinic semialdehyde dehydrogenase deficiency
* ALDH5A1
## 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
|
Succinic semialdehyde dehydrogenase deficiency
|
c0268631
| 26,060 |
medlineplus
|
https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency/
| 2021-01-27T08:25:45 |
{"gard": ["7695"], "mesh": ["C535803"], "omim": ["271980"], "synonyms": []}
|
## Clinical Features
Van Bogaert and Martin (1974) and Spoendlin (1974) described a recessively inherited spinocerebellar ataxia of uncertain classification with optic and cochlear degeneration leading to blindness and deafness. Presumably this was not the Refsum syndrome (266500), which has similar manifestations.
Koenig (2001) concluded that the same disorder was present in the consanguineous Israeli family that he studied with Bomont et al. (2000). An Israeli uncle and niece were affected by an early-onset recessive ataxia and subsequently developed hearing impairment and optic atrophy.
Mapping
By homozygosity mapping in a consanguineous family with early-onset spinocerebellar ataxia and subsequent hearing impairment and optic atrophy, Bomont et al. (2000) found linkage of the disorder to chromosome 6p23-p21 with a lod score of 3.25.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Cochlear degeneration \- Deafness Eyes \- Optic degeneration \- Blindness NEUROLOGIC Central Nervous System \- Spinocerebellar ataxia ▲ 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
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
|
c1849094
| 26,061 |
omim
|
https://www.omim.org/entry/271250
| 2019-09-22T16:22:11 |
{"mesh": ["C537309"], "omim": ["271250"], "orphanet": ["95433"], "synonyms": ["Alternative titles", "SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS"]}
|
Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Infantile digital fibromatosis
|
c1318562
| 26,062 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199267
| 2021-01-23T17:58:39 |
{"gard": ["8487"], "umls": ["C1318562"], "icd-10": ["M72.8"], "synonyms": ["Inclusion body fibromatosis", "Recurring digital fibrous tumor of childhood", "Reye tumor"]}
|
Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Isolated cryptophthalmia
|
c0311249
| 26,063 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91396
| 2021-01-23T17:24:17 |
{"omim": ["123570"], "umls": ["C0311249", "C1852453"], "icd-10": ["Q11.2"]}
|
Trigonitis
SpecialtyUrology
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: "Trigonitis" – news · newspapers · books · scholar · JSTOR (December 2011) (Learn how and when to remove this template message)
Trigonitis is a condition of inflammation of the trigone region of the bladder. It is more common in women.
The cause of trigonitis is not known, and there is no solid treatment. Electrocautery is sometimes used, but is generally unreliable as a treatment, and typically does not have quick results. Several drugs, such as muscle relaxants, antibiotics, antiseptics such as Urised, have varied and unreliable results. Other forms of treatment include urethrotomy, cryosurgery, and neurostimulation.
## References[edit]
## External links[edit]
Classification
D
* ICD-10: N30.3
* ICD-9-CM: 595.3
* SNOMED CT: 74445007
External resources
* eMedicine: med/2343
* Medscape Link
* v
* t
* e
Diseases of the urinary tract
Ureter
* Ureteritis
* Ureterocele
* Megaureter
Bladder
* Cystitis
* Interstitial cystitis
* Hunner's ulcer
* Trigonitis
* Hemorrhagic cystitis
* Neurogenic bladder dysfunction
* Bladder sphincter dyssynergia
* Vesicointestinal fistula
* Vesicoureteral reflux
Urethra
* Urethritis
* Non-gonococcal urethritis
* Urethral syndrome
* Urethral stricture
* Meatal stenosis
* Urethral caruncle
Any/all
* Obstructive uropathy
* Urinary tract infection
* Retroperitoneal fibrosis
* Urolithiasis
* Bladder stone
* Kidney stone
* Renal colic
* Malakoplakia
* Urinary incontinence
* Stress
* Urge
* Overflow
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Trigonitis
|
c1261278
| 26,064 |
wikipedia
|
https://en.wikipedia.org/wiki/Trigonitis
| 2021-01-18T19:09:43 |
{"umls": ["C1261278"], "wikidata": ["Q3678252"]}
|
Not to be confused with Hanhart syndrome.
Tyrosinemia type II
Other namesOculocutaneous tyrosinemia,[1] Richner-Hanhart syndrome[2][1]:543
Tyrosine
SpecialtyDermatology
CausesGenetic (autosomal recessive)[3]
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.[4]:512
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Pathophysiology[edit]
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally challenged. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.[5]
Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
## Diagnosis[edit]
Diagnosis is made based on elevated plasma tyrosine level with skin or eye lesions.
## Treatment[edit]
Dietary restrictions of phenylalanine and tyrosine.
## See also[edit]
* Palmoplantar keratoderma
* List of cutaneous conditions
## References[edit]
1. ^ a b James WD, Elston DM, Berger TG, Andrews GC (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, Gutiérrez-García VM, Santos-Guzmán J, Cantú-Reyna C (27 November 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.
3. ^ "Tyrosinemia type 2". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 24 August 2019.
4. ^ Freedberg IM, Fitzpatrick TB (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
5. ^ "Tyrosinemia Type II". Myriad Women's Health. Retrieved 14 October 2020.
## External links[edit]
Classification
D
* ICD-10: E70.2
* ICD-9-CM: 270.2
* OMIM: 276600
* MeSH: D020176
* DiseasesDB: 13486
External resources
* eMedicine: ped/2339
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
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
|
Tyrosinemia type II
|
c0268487
| 26,065 |
wikipedia
|
https://en.wikipedia.org/wiki/Tyrosinemia_type_II
| 2021-01-18T18:38:12 |
{"gard": ["3105"], "mesh": ["D020176"], "icd-9": ["270.2"], "icd-10": ["E70.2"], "orphanet": ["28378"], "wikidata": ["Q7484623"]}
|
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Palmoplantar keratoderma-spastic paralysis syndrome
|
c1835671
| 26,066 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2201
| 2021-01-23T18:04:19 |
{"gard": ["3095"], "mesh": ["C536153"], "omim": ["148360"], "umls": ["C1835671", "C2931828"], "synonyms": ["Palmoplantar hyperkeratosis-spastic paralysis syndrome", "Powell-Venencie-Gordon syndrome"]}
|
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.
In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body.
Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty.
Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2.
Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.
## Frequency
McCune-Albright syndrome occurs in 1 in 100,000 to 1 in 1,000,000 people worldwide.
## Causes
McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.
In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. GNAS gene mutations that cause McCune-Albright syndrome result in a G protein that causes the adenylate cyclase enzyme to be constantly turned on (constitutively activated). Constitutive activation of the adenylate cyclase enzyme leads to over-production of several hormones, resulting in abnormal bone growth and other signs and symptoms of McCune-Albright syndrome.
### Learn more about the gene associated with McCune-Albright syndrome
* GNAS
## Inheritance Pattern
McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. Affected individuals may have reproductive cells (eggs or sperm) with the mutation. However, a resulting embryo would have the mutation in every cell, which is thought to be incompatible with life, so the condition is not passed to the next generation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
McCune-Albright syndrome
|
c0242292
| 26,067 |
medlineplus
|
https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/
| 2021-01-27T08:24:57 |
{"gard": ["6444", "6995"], "mesh": ["D005359"], "omim": ["174800"], "synonyms": []}
|
Blue rubber bleb nevus syndrome
In medicine, a bleb is a blister (often hemispherical) filled with serous fluid. Blebs can form in a number of tissues by different pathologies, including frostbite.
In pathology pulmonary blebs are small subpleural thin-walled air-containing spaces, not larger than 1-2 cm in diameter. Their walls are less than 1 mm thick. If they rupture, they allow air to escape into pleural space, resulting in a spontaneous pneumothorax.
In ophthalmology, blebs may be formed intentionally in the treatment of glaucoma. In such treatments, functional blebs facilitate the circulation of aqueous humor, the blockage of which will lead to increase in eye pressure. Use of collagen matrix wound modulation device such as ologen during glaucoma surgery is known to produce vascular and functional blebs, which are positively correlated with treatment success rate. [1][2][3][4]
In the lungs, a bleb is a collection of air within the layers of the visceral pleura.
In breasts a bleb is a milk blister (also known as blocked nipple pore, nipple blister, or “milk under the skin”).[5]
## External links[edit]
* Medical definition of bleb on MedicineNet.com
* Moorfields Bleb Grading System
## References[edit]
1. ^ Yuan F, Li L, Chen X, Yan X, Wang L (2015). "Biodegradable 3D-Porous Collagen Matrix (Ologen) Compared with Mitomycin C for Treatment of Primary Open-Angle Glaucoma: Results at 5 Years". J Ophthalmol. 2015: 637537.CS1 maint: multiple names: authors list (link)
2. ^ Min JK, Kee CW, Sohn SW, Lee HJ, Woo JM, Yim JH (2013). "Surgical outcome of mitomycin C-soaked collagen matrix implant in trabeculectomy". J Glaucoma. 22 (6): 456–62. doi:10.1097/ijg.0b013e31826ab6b1.CS1 maint: multiple names: authors list (link)
3. ^ Boey PY, Narayanaswamy A, Zheng C, Perera SA, Htoon HM, Tun TA, Seah SK, Wong TT, Aung T (2011). "Imaging of blebs after phacotrabeculectomy with Ologen collagen matrix implants". Br J Ophthalmol. 95 (3): 340–4. doi:10.1136/bjo.2009.177758.CS1 maint: multiple names: authors list (link)
4. ^ Aptel F, Dumas S, Denis P (2009). "Ultrasound biomicroscopy and optical coherence tomography imaging of filtering blebs after deep sclerectomy with new collagen implant". Eur J Ophthalmol. 19 (2): 223–30. doi:10.1177/112067210901900208.CS1 maint: multiple names: authors list (link)
5. ^ White spot on the nipple
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
|
Bleb (medicine)
|
None
| 26,068 |
wikipedia
|
https://en.wikipedia.org/wiki/Bleb_(medicine)
| 2021-01-18T18:57:39 |
{"wikidata": ["Q4925763"]}
|
Anterograde amnesia
SpecialtyNeurology
Anterograde amnesia is a loss of the ability to create new memories after the event that caused amnesia, leading to a partial or complete inability to recall the recent past, while long-term memories from before the event remain intact. This is in contrast to retrograde amnesia, where memories created prior to the event are lost while new memories can still be created. Both can occur together in the same patient. To a large degree, anterograde amnesia remains a mysterious ailment because the precise mechanism of storing memories is not yet well understood, although it is known that the regions involved are certain sites in the temporal cortex, especially in the hippocampus and nearby subcortical regions.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Alcohol intoxication
* 3 Pathophysiology
* 3.1 Medial temporal lobe
* 3.2 Other memory systems
* 4 Reorganization of memory
* 5 Rehabilitation
* 6 Controversies
* 6.1 Episodic versus semantic memory
* 6.2 Familiarity and the fractionation of memory
* 6.3 Islands of memory
* 7 Notable cases
* 7.1 Fictional cases
* 8 See also
* 9 References
* 10 Other sources
* 11 External links
## Signs and symptoms[edit]
People with anterograde amnesic syndromes may present with widely varying degrees of forgetfulness. Some with severe cases have a combined form of anterograde and retrograde amnesia, sometimes called global amnesia.
In the case of drug-induced amnesia, it may be short-lived and patients can recover from it. In the other case, which has been studied extensively since the early 1970s, patients often have permanent damage, although some recovery is possible, depending on the nature of the pathophysiology. Usually, some capacity for learning remains, although it may be very elementary. In cases of pure anterograde amnesia, patients have recollections of events prior to the injury, but cannot recall day-to-day information or new facts presented to them after the injury occurred.[1]
In most cases of anterograde amnesia, patients lose declarative memory, or the recollection of facts, but they retain nondeclarative memory, often called procedural memory. For instance, they are able to remember and in some cases learn how to do things such as talking on the phone or riding a bicycle, but they may not remember what they had eaten earlier that day for lunch.[1] One extensively studied anterograde amnesiac patient, codenamed H.M., demonstrated that despite his amnesia preventing him from learning new declarative information, procedural memory consolidation was still possible, albeit severely reduced in power. He, along with other patients with anterograde amnesia, were given the same maze to complete day after day. Despite having no memory of having completed the maze the day before, unconscious practice of completing the same maze over and over reduced the amount of time needed to complete it in subsequent trials. From these results, Corkin et al. concluded despite having no declarative memory (i.e. no conscious memory of completing the maze exists), the patients still had a working procedural memory (learning done unconsciously through practice). This supports the notion that declarative and procedural memory are consolidated in different areas of the brain. In addition, patients have a diminished ability to remember the temporal context in which objects were presented. Certain authors claim the deficit in temporal context memory is more significant than the deficit in semantic learning ability (described below).[2]
## Causes[edit]
This disorder is usually acquired in one of four ways: One cause is benzodiazepine drugs such as; midazolam, flunitrazepam, lorazepam, temazepam, nitrazepam, triazolam, clonazepam, alprazolam, diazepam, and nimetazepam; all of which are known to have powerful amnesic effects. This has also been recorded in non-benzodiazapine sedatives or "z-drugs" which act on the same set of receptors; such as zolpidem (also known as Ambien), eszopiclone (also known as Lunesta), and zopiclone (also known by brand names Imovane and Zimovane).[3] A second cause is a traumatic brain injury in which damage is usually done to the hippocampus or surrounding cortices. It may also be caused by a PTSD a shocking event or an emotional disorder.[4]
Illness, though much rarer, can also cause anterograde amnesia if it causes encephalitis, which is the inflammation of brain tissue. There are several types of encephalitis: one such is herpes simplex encephalitis (HSV), which, if left untreated, can lead to neurological deterioration. How HSV gains access to the brain is unknown; the virus shows a distinct predilection for certain parts of the brain. Initially, it is present in the limbic cortices; it may then spread to the adjacent frontal and temporal lobes. Damage to specific areas can result in reduced or eliminated ability to encode new explicit memories, giving rise to anterograde amnesia.[5] Patients suffering from anterograde amnesia may have episodic, semantic, or both types of explicit memory impaired for events after the trauma that caused the amnesia. This suggests that memory consolidation for different types of memory takes place in different regions of the brain. Despite this, current knowledge on human memory is still insufficient to "map out" the wiring of a human brain to discover which parts of which lobe are responsible for the various episodic and semantic knowledge within a person's memory.
Amnesia is seen in patients who, for the reason of preventing another more serious disorder, have parts of their brains known to be involved in memory circuits removed, the most notable of which is known as the medial temporal lobe (MTL) memory system, described below. Patients with seizures originating in the MTL may have either side or both structures removed (there is one structure per hemisphere). In addition, patients with tumors who undergo surgery will often sustain damage to these structures, as is described in a case below. Damage to any part of this system, including the hippocampus and surrounding cortices, results in amnesic syndromes.[1] This is why people who suffer from strokes have a chance of developing cognitive deficits that result in anterograde amnesia, since strokes can involve the temporal lobe in the temporal cortex, and the temporal cortex houses the hippocampus.
### Alcohol intoxication[edit]
See also: Blackout
Anterograde amnesia can also be caused by alcohol intoxication, a phenomenon commonly known as a blackout. Studies show rapid rises in blood alcohol concentration over a short period of time severely impair or in some cases completely block the brain's ability to transfer short-term memories created during the period of intoxication to long-term memory for storage and later retrieval. Such rapid rises are caused by drinking large amounts of alcohol in short periods of time, especially on an empty stomach, as the dilution of alcohol by food slows the absorption of alcohol. Alcohol-related anterograde amnesia is directly related to the rate of consumption of alcohol (and is often associated with binge drinking), and not just the total amount of alcohol consumed in a drinking episode. Test subjects have been found not to experience amnesia when drinking slowly, despite being heavily intoxicated by the end of the experiment. When alcohol is consumed at a rapid rate, the point at which most healthy people's long-term memory creation starts to fail usually occurs at approximately 0.20% BAC, but can be reached as low as 0.14% BAC for infrequent drinkers. The exact duration of these blackout periods is hard to determine, because most people fall asleep before they end. Upon reaching sobriety, usually after waking, long-term memory creation is completely restored.[6]
Chronic alcoholism often leads to a thiamine (vitamin B1) deficiency in the brain, causing Korsakoff's syndrome, a neurological disorder which is generally preceded by an acute neurological condition known as Wernicke's encephalopathy (WE). The memory impairment that is pathognomonic to Korsakoff's syndrome predominantly affects the declarative memory, leaving non-declarative memory that is often procedural in nature relatively intact.[7] The disproportionate severity in anterograde episodic memory processes in contrast to other cognitive processes is what differentiates Korsakoff syndrome from other conditions such as alcohol-related dementia. Evidence for the preservation of certain memory processes in the presence of severe anterograde episodic memory serve as experimental paradigm to investigate the components of human memory.
## Pathophysiology[edit]
The pathophysiology of anterograde amnesic syndromes varies with the extent of damage and the regions of the brain that were damaged. The most well-described regions indicated in this disorder are the medial temporal lobe (MTL), basal forebrain, and fornix. Beyond the details described below, the precise process of how we remember – on a micro scale – remains a mystery. Neuropsychologists and scientists are still not in total agreement over whether forgetting is due to faulty encoding, accelerated forgetting, or faulty retrieval, although a great deal of data seem to point to the encoding hypothesis.[8] In addition, neuroscientists are also in disagreement about the length of time involved in memory consolidation. Though most researchers, including Hasselmo et al., have found the consolidation process is spread out over several hours before transitioning from a fragile to a more permanent state, others, including Brown et al., posit that memory consolidation can take months or even years in a drawn-out process of consolidation and reinforcement. Further research into the length of time of memory consolidation will shed more light on why anterograde amnesia sometimes affects some memories gained after the event(s) that caused the amnesia, but does not affect other such memories.
### Medial temporal lobe[edit]
Hippocampus (brain)
The MTL memory system includes the hippocampal formation (CA fields, dentate gyrus, subicular complex), perirhinal, entorhinal, and parahippocampal cortices. It is known to be important for the storage and processing of declarative memory, which allows for factual recall. It is also known to communicate with the neocortex in the establishment and maintenance of long-term memories, although its known functions are independent of long-term memory. Nondeclarative memory, on the other hand, which allows for the performance of different skills and habits, is not part of the MTL memory system. Most data point to a "division of labor" among the parts of this system, although this is still being debated and is described in detail below.[1]
In animal models, researchers have shown monkeys with damage to both the hippocampus and its adjacent cortical regions were more severely impaired in terms of anterograde amnesia than monkeys with damage localized to hippocampal structures.[1] However, conflicting data in another primate study point to the observation that the amount of tissue damaged does not necessarily correlate with the severity of the memory loss.[9] Furthermore, the data do not explain the dichotomy that exists in the MTL memory system between episodic memory and semantic memory (described below).[1]
An important finding in amnesic patients with MTL damage is the impairment of memory in all sensory modalities – sound, touch, smell, taste, and sight. This reflects the fact that the MTL is a processor for all of the sensory modalities, and helps store these kind of thoughts into memory. In addition, subjects can often remember how to perform relatively simple tasks immediately (on the order of 10 seconds), but when the task becomes more difficult, even on the same time scale, subjects tend to forget. This demonstrates the difficulty of separating procedural memory tasks from declarative memory; some elements of declarative memory may be used in learning procedural tasks.[10]
MTL amnesic patients with localized damage to the hippocampus retain other perceptual abilities, such as the ability to intelligently function in society, to make conversation, to make one's bed, etc. Additionally, anterograde amnesics without combined retrograde disorders (localized damage to the MTL system) have memories prior to the traumatic event. For this reason, the MTL is not the storage place of all memories; other regions in the brain also store memories. The key is the MTL is responsible for the learning of new materials.[1]
### Other memory systems[edit]
A limited number of cases have been described in which patients with damage to other parts of the brain acquired anterograde amnesia. Easton and Parker observed damage to either the hippocampus or the surrounding cortices does not seem to result in severe amnesia in primate models. They suggested damage to the hippocampus and surrounding structures alone does not explain the amnesia they saw in patients, or increasing damage does not correlate with the degree of impairment.[9] Furthermore, the data do not explain the dichotomy that exists in the MTL memory system between episodic and semantic memory. To demonstrate their hypothesis, they used a primate model with damage to the basal forebrain. They proposed that the disruption of neurons that project from the basal forebrain to the MTL are responsible for some of the impairment in anterograde amnesia. Easton and Parker also reported MRI scans of patients with severe anterograde amnesia showed damage beyond to cortical areas around the hippocampus and amygdala (a region of brain involved in emotions) and to surrounding white matter (white matter in the brain consists of axons, long projections of neuronal cell bodies).
Another case described the onset of anterograde amnesia as a result of cell death in the fornix, another structure that carries information from the hippocampus to the structures of the limbic system and the diencephalon. The patient in this case did not show any disconnection syndrome, which is unexpected since the structures involved divide the brain hemispheres (both sides of her brain were able to communicate). Instead, she showed signs of amnesia. The final diagnosis was made by MRI. This particular amnesic syndrome is difficult to diagnose and often is misdiagnosed by physicians as an acute psychiatric disorder.[11]
## Reorganization of memory[edit]
When there is damage to just one side of the MTL, there is opportunity for normal functioning or near-normal function for memories. Neuroplasticity describes the ability of the cortex to remap when necessary. Remapping can occur in cases like the one above, and, with time, the patient can recover and become more skilled at remembering. A case report describing a patient who had two lobectomies – in the first, doctors removed part of her right MTL first because of seizures originating from the region, and later her left because she developed a tumor – demonstrates this. This case is unique because it is the only one in which both sides of the MTL were removed at different times. The authors observed that the patient was able to recover some ability to learn when she had only one MTL, but observed the deterioration of function when both sides of the MTL were afflicted. The reorganization of brain function for epileptic patients has not been investigated much, but imaging results show that it is likely.[12]
## Rehabilitation[edit]
Approaches used to treat those who suffer from anterograde amnesia often use interventions which focus on compensatory techniques, such as beepers, written notes, diaries or through intensive training programs involving the active participation of the individual concerned, along with their supporting network of family and friends. In this perspective, environmental adaptation techniques are used, such as the compensatory technique education to training (exercise), organizational strategies, visual imagery and verbal labeling. In addition, other techniques are also used in rehabilitation, such as implicit tasks, speech and mnemotechnic methods. So far, it has been proven that education techniques of compensatory strategies for memory disorders are effective in individuals with minor traumatic brain injuries.[13] In moderately or severely injured individuals, effective interventions are those appealing to external aids, such as reminders in order to facilitate particular knowledge or skill acquisition. Reality orientation techniques are also considered; Their purpose is to enhance orientation using stimulation and repetition of the basic orientation information.[14] These techniques are regularly applied in populations of patients primarily presenting with dementia and head-injured patients.
## Controversies[edit]
### Episodic versus semantic memory[edit]
As described above, patients with anterograde amnesia have a wide range of forgetfulness. Declarative memory can be further subdivided into episodic and semantic memory. Episodic memory is the recollection of autobiographical information with a temporal and/or spatial context, whereas semantic memory involves recall of factual information with no such association (language, history, geography, etc.). In a case study of a girl who developed anterograde amnesia during childhood, it was determined that the patient ("C.L.") retained semantic memory while suffering an extreme impairment of episodic memory.[15]
One patient, known by the codename "Gene", was involved in a motorcycle accident that damaged significant portions of his frontal and temporal lobes, including his left hippocampus. As a result, he cannot remember any specific episode in his life, such as a train derailment near his house. However, his semantic memory is intact; he remembers that he owns a car and two motorcycles, and he can even remember the names of his classmates in a school photograph.
In stark contrast, a woman whose temporal lobes were damaged in the front due to encephalitis lost her semantic memory; she lost her memory of many simple words, historical events, and other trivial information categorized under semantic memory. However, her episodic memory was left intact; she can recall episodes such as her wedding and her father's death with great detail.
Vicari et al. describe that it remains unclear whether neural circuits involved in semantic and episodic memory overlap partially or completely, and this case seems to suggest that the two systems are independent. Both of the patient's hippocampal and diencephalic structures on the right and left sides were disconnected. When C.L. came to Vicari et al.'s office, her chief complaint was forgetfulness involving both semantic and episodic memory. After administering a battery of neuropsychological tests, Vicari determined that C.L. performed well in tests of visual naming and sentence comprehension, visual-spatial ability, and “general semantic knowledge about the world.” They also noted an improved vocabulary and general knowledge base after 18 months. C.L.'s episodic memory, on the other hand, was far below expectations: She could not retain daily events, where she had gone on vacation, the names of places she had been, and other such information. However, this study and others like it are susceptible to subjectivity, since it is not always possible to clearly distinguish between episodic and semantic memory. For this reason, the topic remains controversial and debated.
### Familiarity and the fractionation of memory[edit]
The right hippocampus is clearly necessary for familiarity in spatial tasks, whereas the left hippocampus is necessary for familiarity-based recollection in verbal tasks.[16] Some researchers claim the hippocampus is important for the retrieval of memories, whereas adjacent cortical regions can support familiarity-based memories. These memory decisions are made based on matching already-existing memories (before the onset of pathology) to the current situation. According to Gilboa et al., patients with localized hippocampal damage can score well on a test if it is based on familiarity.[17]
Poreh et al.[18] describe a case study of patient A.D., whose damage to the fornix rendered the hippocampus useless, but spared adjacent cortical areas – a fairly rare injury. When the patient was given a test with something with which he had some familiarity, the patient was able to score well. In general, however, A.D. had severely impaired episodic memory, but had some ability to learn semantic knowledge. Other studies show animals with similar injuries can recognize objects with which they are familiar, but, when the objects are presented in an unexpected context, they do not score well on recognition tests.
### Islands of memory[edit]
Patients with anterograde amnesia have trouble recalling new information and new autobiographical events, but the data are less consistent in regard to the latter. Medveds and Hirst recorded the presence of islands of memory – detailed accounts – that were described by such patients. The island memories were a combination of semantic and episodic memories. The researchers recorded patients giving long narratives with a fair amount of detail that resembled memories that the patients had prior to the trauma. The appearance of islands of memory could have something to do with the functioning of adjacent cortical areas and the neocortex. In addition, the researchers suspect that the amygdala played a role in the narratives.[19]
## Notable cases[edit]
The most famous case reported is that of patient Henry Molaison, known as H.M., in March 1953.[20] Molaison's chief complaint was the persistence of severe seizures and therefore had a bilateral lobectomy (both of his MTLs were removed). As a result, Molaison had bilateral damage to both the hippocampal formation and the perirhinal cortex. Molaison had average intelligence and perceptual ability and a decent vocabulary. However, he could not learn new words or remember things that had happened more than a few minutes earlier. He could remember anything from his childhood. If the memory was created from before his lobectomy, he still had the ability to retrieve it and remember. However, he was able to learn some new skills. He was the first well-documented case of severe anterograde amnesia, and was studied[1] until his death in 2008.[21]
A similar case involved Clive Wearing, an accomplished musicologist who contracted a cold sore virus that attacked his brain, causing herpes simplex encephalitis. As a result, Wearing developed both anterograde and retrograde amnesia, so he has little memory of what happened before the virus struck him in 1985, and cannot learn new declarative knowledge after the virus struck him either. As a result of anterograde amnesia, Wearing repeatedly "wakes up" every day usually in 30-second intervals. He has a history of repeatedly recording these moments of waking up in his journal (e.g., On Sept 2, 2013, I woke up, etc. etc.) and crossing out prior entries, as if the other moments of waking up were not real. His episodic memory is nonfunctional (so he does not consciously recall having woken up 30 seconds prior). Clive is often elated to see his wife, as if he has not seen her for a while. Despite this, however, Wearing maintained his ability to play the piano and conduct choirs. This case is significant because it demonstrates declarative and procedural memory are separate. Therefore, despite anterograde amnesia preventing Wearing from learning new bits of information that can be explained in words (declarative memory), and also preventing him from storing new memories of events or episodes (also part of declarative memory), he has little trouble in retaining his musical abilities (procedural memory), though he has no conscious memory of having learned music.[citation needed]
Another case in the literature is Eugene Pauly,[22] known as E.P., a severely amnesic patient (owing to viral encephalitis[22]) who was able to learn three-word sentences. He performed better on consecutive tests over a 12-week period (24 study sessions). However, when asked how confident he was about the answers, his confidence did not appear to increase. Bayley and Squire proposed his learning was similar to the process required by procedural memory tasks; E.P. could not get the answers right when one word in the three-word sentence was changed or the order of words was changed, and his ability to answer correctly, thus, became more of a "habit." Bayley and Squire claim the learning may have happened in the neocortex, and it happened without the conscious knowledge of E.P. They hypothesized the information may be acquired directly by the neocortex (to which the hippocampus projects) when there is repetition.[23] This case illustrates the difficulty in separating procedural from declarative tasks; this adds another dimension to the complexity of anterograde amnesia.
### Fictional cases[edit]
Notable examples include Lucy Whitmore in 50 First Dates, Dory in Finding Nemo and Finding Dory, Do Kyungsoo in Anterograde Tomorrow, Jonathan Archer in the Star Trek: Enterprise episode "Twilight", Joseph Gordon-Levitt in The Lookout, Kaori Fujimiya in One Week Friends, Chihiro Shindou in Ef: A Fairy Tale of the Two, Christine Lucas in Before I Go to Sleep, Gus in Remember Sunday, and Sanjay in Ghajini. In the TV series Perception, an episode revolved around a crime victim with this condition. The main character Latro in Gene Wolfe's novels Soldier of the Mist, and the anime characters Vash the Stampede from Trigun and Index and Tōma from A Certain Magical Index suffer from both retrograde and anterograde amnesia.
In the 1965 film 36 Hours, Rod Taylor plays Nazi Major Walter Gerber, a psychiatrist who has developed an effective method for treating German soldiers suffering from what is now known as PTSD—and for painlessly extracting information from Allied prisoners. The technique involves convincing patients that years have passed, the war is over, and that they are suffering from anterograde amnesia, which supposedly can be cured with talk therapy. A few days before D-Day, U.S. Army Major Jeff Pike (James Garner) is drugged, kidnapped and taken to what appears to be a hospital run by American Occupation Forces, where his appearance is altered overnight. Pike knows that the invasion is aimed at Normandy, not Pas de Calais, as the Nazi high command expects. He buys Gerber’s explanation of anterograde amnesia—using the double doors of a wardrobe as illustration—and speaks casually of Normandy. Salt in a papercut alerts him to the horrible truth, and the drama proceeds from there.
Christopher Nolan's psychological crime film Memento (2000) contains a distinguished depiction of anterograde amnesia, in that the character Leonard Shelby is trying to identify and kill the man who raped and murdered his wife, and does so through a system of writing crucial details related to the search on his body and on the blank spaces of Polaroid photographs. Mental health experts have described Memento as one of the most accurate depictions of amnesia in film history, an accuracy that was enhanced by the film's fragmented, non-linear structure that mimics the protagonist's memory problems.[24]
In the 2016 video game Phoenix Wright: Ace Attorney – Spirit of Justice, the character Sorin Sprocket is eventually revealed to have anterograde amnesia, which he developed after unintentionally causing a car accident which killed his sister. This causes his memories to completely reset every time he wakes up from sleeping, to the day after this accident. This depiction is notable for demonstrating the relationship issues that arise between Sorin and his fiancée, Ellen Wyatt, as a result of this disorder, most noticeably with how Sorin's feelings towards her to coming across as distant and cold. As the storyline continues, however, the player comes to uncover that Sorin in fact deeply loves his fiancée, and is able to maintain this love despite his disorder, but in fact feels a sense of guilt over the fact that he has to constantly remind himself of the fact that this love exists inside of him every day, due to his disorder. It is also noticeable in that it depicts how Sorin deals with his disorder, by keeping a journal where he writes down every detail of every day after his sister's death. He carries this journal around everywhere he goes as a substitution to his memories, and uses what is written in the notebook to become aware each time he wakes up of the fact that he has his condition, what the current date apparently is, and everything important that have apparently occurred on every day since he first developed the condition. The episode also deals with legal issues concerning the disorder, when it is debated during Ellen Wyatt's trial as to whether Sorin's journal can be considered a proper substitution to his memories for the sake of viable witness testimony. Dangers imposed by this also come into play when it is revealed that a page in Sorin's journal had been altered by someone, which causes him to go into mental collapse that any of his other memories and thoughts could also have arisen from someone else's manipulation.[25]
In the episode "Mementos" of Brooklyn Nine-Nine, Adrian Pimento develops anterograde amnesia, which is a main plot point of the episode.
## See also[edit]
* Transient global amnesia
## References[edit]
1. ^ a b c d e f g h Squire, LR; Stark, CE; Clark, RE (2004). "The medial temporal lobe". Annu Rev Neurosci. 27: 279–306. doi:10.1146/annurev.neuro.27.070203.144130. PMID 15217334.
2. ^ Downes JJ, Mayes AR, MacDonald C, Hunkin NM. Temporal order memory in patients with Korsakoff's syndrome and medial temporal amnesia" Neuropsychologia 2002;40(7):853–61.
3. ^ Bulach, R; Myles, PS; Russnak, M (Mar 2005). "Double-blind randomized controlled trial to determine extent of amnesia with midazolam given immediately before general anaesthesia". Br J Anaesth. 94 (3): 300–5. doi:10.1093/bja/aei040. PMID 15567810.
4. ^ Hurlemann, R; Hawellek, B; Matusch, A; Kolsch, H; Wollersen, Madea B; Vogeley, K; Maier, W; Dolan, RJ (2005). "Noradrenergic Modulation of Emotion-Induced Forgetting and Remembering". The Journal of Neuroscience. 25 (27): 6343–6349. doi:10.1523/jneurosci.0228-05.2005. PMC 6725275. PMID 16000624.
5. ^ Ishihara K, Kawamura M, Kaga E, Katoh T, Shiota J. Amnesia following herpes simplex encephalitis. Brain and Nerve (Tokyo) Volume: 52 Issue: 11 Pages: 979-983 Published: November, 2000.
6. ^ White, Aaron M. "Alcohol, Memory Blackouts and the Brain". Enotalone.com. Retrieved 2011-11-28.
7. ^ Hayes, S., Fortier, C., Levine, A., Milberg, W., McGlinchey, R. Implicit Memory in Korsakoff's Syndrome: A Review of Procedural Learning and Priming Studies. Neuropsychol Rev (2012) 22:132–153.
8. ^ Dewar, MT; Cowan, N; Sala; Pilzecker's (Jul 2007). "early insights into everyday forgetting and recent research on anterograde amnesia". Cortex. 43 (5): 616–34. doi:10.1016/s0010-9452(08)70492-1. PMC 2644330. PMID 17715797.
9. ^ a b Easton A, Parker A. A cholinergic explanation of dense amnesia. Cortex. 2003 Sep-Dec;39(4-5):813-26.
10. ^ Squire, LR; Schmolck, H; Stark, S (2001). "Impaired auditory recognition memory in amnesic patients with medial temporal lobe lesions". Learn. Mem. 8 (5): 252–56. doi:10.1101/lm.42001. PMC 311381. PMID 11584071.
11. ^ Saito Y, Matsumura K, Shimizu T. Anterograde amnesia associated with infarction of the anterior fornix and genu of the corpus callosum. J Stroke Cerebrovasc Dis. 2006 Jul–Aug;15(4):176–7.
12. ^ Di Gennaro, G; Grammaldo, LG; Quarato, PP; Esposito, V; Mascia, A; Sparano, A; Meldolesi, GN; Picardi, A (Jun 2006). "Severe amnesia following bilateral medial temporal lobe damage occurring on two distinct occasions". Neurol. Sci. 27 (2): 129–33. doi:10.1007/s10072-006-0614-y. PMID 16816912. S2CID 7741607.
13. ^ Gordon, WA; Zafonte, R; Cicerone, K; Cantor, J; Brown, M; et al. (2006). "Traumatic Brain injury Rehabilitation. State of the Science". American Journal of Physical Medicine & Rehabilitation. 85 (4): 343–382. doi:10.1097/01.phm.0000202106.01654.61. PMID 16554685. S2CID 36130292.
14. ^ Corrigan, J; Arnett, J; Houck, L; Jackson, R (1985). "Reality orientation for brain injured patients: Group treatment and monitoring of recovery". Archives of Physical Medicine and Rehabilitation. 66 (9): 626–630. PMID 4038030.
15. ^ Vicari S, Menghini D, Di Paola M, Serra L, Donfrancesco A, Fidani P, Milano GM, Carlesimo GA. Acquired amnesia in childhood: a single case study. Neuropsychologia. 2007 Mar 2;45(4):704-15.
16. ^ Bird CM, Shallice T, Cipolotti L. Fractionation of memory in medial temporal lobe amnesia. Neuropsychologia. 2007 Mar 25;45(6):1160–71.
17. ^ Gilboa A, Winocur G, Rosenbaum RS, Poreh A, Gao F, Black SE, Westmacott R, Moscovitch M. Hippocampal contributions to recollection in retrograde and anterograde amnesia" Hippocampus 2006;16(11):966-80.
18. ^ Poreh, A.; Winocurb, G.; Moscovitch, M.; Backon, M.; Goshen, E.; Ram, Z.; Feldman, Z. (2006). "Anterograde and retrograde amnesia in a person with bilateral fornix lesions following removal of a colloid cyst". Neuropsychologia. 44 (12): 2241–2248. doi:10.1016/j.neuropsychologia.2006.05.020. PMID 16846621. S2CID 18709532.
19. ^ Medved, MI; Hirst, W (Apr 2006). "Islands of memory: Autobiographical remembering in amnestics". Memory. 14 (3): 276–88. doi:10.1080/09658210500233524. PMID 16574584. S2CID 22637173.
20. ^ S. Corkin (1984). Frontiers in Cognitive Neuroscience pp. 516-526. London: MIT press (Scoville and Milner)
21. ^ H.M., an Unforgettable Amnesiac. New York Times, 12/5/08 [1].
22. ^ a b Duhigg, Charles. The Power of Habit. Random House, 2012.
23. ^ Bayley, PJ; Squire, LR (2002). "Medial temporal lobe amnesia: gradual acquisition of factual information by nondeclarative memory". J. Neurosci. 22 (13): 5741–8. doi:10.1523/JNEUROSCI.22-13-05741.2002. PMC 2821083. PMID 12097527.
24. ^ Mo Costandi (2012) Memory and amnesia in the movies, The Guardian.com, accessed 17 September 2016
25. ^ "Ace Attorney: Spirit of Justice Character: Sorin Sprocket / Raito Haguruma". www.court-records.net. Retrieved 2017-10-24.
## Other sources[edit]
* Hasselmo, M.; McClelland, J. (1999). "Neural models of memory". Current Opinion in Neurobiology. 9 (2): 184–188. doi:10.1016/s0959-4388(99)80025-7. PMID 10322183. S2CID 15768044.
* Weingartner, H., Parker, E. Memory Consolidation: Psychobiology of Cognition. Hillsdale: Lawrence Erlbaum Associates, Inc., Publishers, 1984.
* Corkin, S (2002). "What's new with the amnesic patient H.M.?"". Nature Reviews Neuroscience. 3 (2): 153–160. doi:10.1038/nrn726. PMID 11836523. S2CID 5429133.
* Engmann, Birk; Reuter, Mike (2003). "A case history of sudden memory dysfunction – caused by transient epileptic amnesia". Aktuelle Neurologie. 30: 350–353.
* Vuilleumier, P.; Despland, P; Regli, F (1996). "Failure to recall (but not to remember): Pure transient amnesia during nonconvulsive status epilepticus". Neurology. 46 (4): 1036–1039. doi:10.1212/wnl.46.4.1036. PMID 8780086. S2CID 40835407.
* Hampstead, B. M.; Koffler, S. P. (2009). "Thalamic Contributions To Anterograde, Retrograde, And Implicit Memory: A Case Study". The Clinical Neuropsychologist. 23 (7): 1232–1249. doi:10.1080/13854040902936679. PMID 19548181. S2CID 205809362.
## External links[edit]
Classification
D
* ICD-10: R41.1
* ICD-9-CM: 780.93
* MeSH: D020324
* v
* t
* e
Symptoms and signs relating to perception, emotion and behaviour
Cognition
* Confusion
* Delirium
* Psychosis
* Delusion
* Amnesia
* Anterograde amnesia
* Retrograde amnesia
* Convulsion
* Dizziness
* Disequilibrium
* Presyncope/Lightheadedness
* Vertigo
Emotion
* Anger
* Anxiety
* Depression
* Fear
* Paranoia
* Hostility
* Irritability
* Suicidal ideation
Behavior
* Verbosity
* Russell's sign
Perception
* Sensory processing disorder
* Hallucination (Auditory hallucination)
* Smell
* Anosmia
* Hyposmia
* Dysosmia
* Parosmia
* Phantosmia
* Hyperosmia
* Synesthesia
* Taste
* Ageusia
* Hypogeusia
* Dysgeusia
* Hypergeusia
* v
* t
* e
Human memory
Basic concepts
* Encoding
* Storage
* Recall
* Attention
* Consolidation
* Neuroanatomy
Types
Sensory
* Echoic
* Eidetic
* Eyewitness
* Haptic
* Iconic
* Motor learning
* Visual
Short-term
* "The Magical Number Seven, Plus or Minus Two"
* Working memory
Intermediate
*
Long-term
* Active recall
* Autobiographical
* Explicit
* Declarative
* Episodic
* Semantic
* Flashbulb
* Hyperthymesia
* Implicit
* Meaningful learning
* Personal-event
* Procedural
* Rote learning
* Selective retention
* Tip of the tongue
Forgetting
* Amnesia
* anterograde
* childhood
* post-traumatic
* psychogenic
* retrograde
* transient global
* Decay theory
* Forgetting curve
* Interference theory
* Memory inhibition
* Motivated forgetting
* Repressed memory
* Retrieval-induced forgetting
* Selective amnesia
* Weapon focus
Memory errors
* Confabulation
* False memory
* Hindsight bias
* Imagination inflation
* List of memory biases
* Memory conformity
* Mere-exposure effect
* Misattribution of memory
* Misinformation effect
* Source-monitoring error
* Wernicke–Korsakoff syndrome
Research
* Art of memory
* Memory and aging
* Deese–Roediger–McDermott paradigm
* Exceptional memory
* Indirect tests of memory
* Lost in the mall technique
* Memory disorder
* Memory implantation
* Methods used to study memory
* The Seven Sins of Memory
* Effects of exercise on memory
In society
* Collective memory
* Cultural memory
* False memory syndrome
* Memory and social interactions
* Memory sport
* Politics of memory
* Shas Pollak
* World Memory Championships
Related topics
* Absent-mindedness
* Atkinson–Shiffrin memory model
* Context-dependent memory
* Childhood memory
* Cryptomnesia
* Effects of alcohol
* Emotion and memory
* Exosomatic memory
* Flashbacks
* Free recall
* Involuntary memory
* Levels-of-processing effect
* Memory and trauma
* Memory improvement
* Metamemory
* Mnemonic
* Muscle memory
* Priming
* Intertrial
* Prospective memory
* Recovered-memory therapy
* Retrospective memory
* Sleep and memory
* State-dependent memory
* Transactive memory
People
* Robert A. Bjork
* Stephen J. Ceci
* Susan Clancy
* Hermann Ebbinghaus
* Sigmund Freud
* Patricia Goldman-Rakic
* Jonathan Hancock
* Judith Lewis Herman
* HM (patient)
* Ivan Izquierdo
* Marcia K. Johnson
* Eric Kandel
* KC (patient)
* Elizabeth Loftus
* Geoffrey Loftus
* Chris Marker
* James McGaugh
* Paul R. McHugh
* Eleanor Maguire
* George Armitage Miller
* Brenda Milner
* Lynn Nadel
* Dominic O'Brien
* Ben Pridmore
* Henry L. Roediger III
* Steven Rose
* Cosmos Rossellius
* Daniel Schacter
* Richard Shiffrin
* Arthur P. Shimamura
* Andriy Slyusarchuk
* Larry Squire
* Susumu Tonegawa
* Anne Treisman
* Endel Tulving
* Robert Stickgold
* Clive Wearing
* Psychology portal
* Philosophy portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Anterograde amnesia
|
c0233795
| 26,069 |
wikipedia
|
https://en.wikipedia.org/wiki/Anterograde_amnesia
| 2021-01-18T19:10:29 |
{"mesh": ["D020324"], "umls": ["C0233795"], "wikidata": ["Q572111"]}
|
Darkening of the nipple or areola
Nipple pigmentation or areolar pigmentation is pigmentation (darkening) of the nipple or areola. It is dose-dependently induced as an effect of estrogens and can occur normally during pregnancy and breastfeeding or as a side effect of high-dose estrogen therapy.[1][2]
## References[edit]
1. ^ Aurel Lupulescu (24 October 1990). Hormones and Vitamins in Cancer Treatment. CRC Press. pp. 41–. ISBN 978-0-8493-5973-6.
2. ^ Jeffrey K. Aronson (15 October 2015). Meyler's Side Effects of Drugs: The International Encyclopedia of Adverse Drug Reactions and Interactions. Elsevier Science. pp. 2–. ISBN 978-0-444-53716-4.
* v
* t
* e
Breast disease
Inflammation
* Mastitis
* Nonpuerperal mastitis
* Subareolar abscess
* Granulomatous mastitis
Physiological changes
and conditions
* Benign mammary dysplasia
* Duct ectasia of breast
* Chronic cystic mastitis
* Mammoplasia
* Gynecomastia
* Adipomastia (lipomastia, pseudogynecomastia)
* Breast hypertrophy
* Breast atrophy
* Micromastia
* Amastia
* Anisomastia
* Breast engorgement
Nipple
* Nipple discharge
* Galactorrhea
* Inverted nipple
* Cracked nipples
* Nipple pigmentation
Masses
* Galactocele
* Breast cyst
* Breast hematoma
* Breast lump
* Pseudoangiomatous stromal hyperplasia
Other
* Pain
* Tension
* Ptosis
* Fat necrosis
* Amazia
This medical article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Nipple pigmentation
|
None
| 26,070 |
wikipedia
|
https://en.wikipedia.org/wiki/Nipple_pigmentation
| 2021-01-18T18:45:42 |
{"umls": ["C0240517"], "wikidata": ["Q65046883"]}
|
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability.
## Frequency
This condition is very rare; its prevalence is unknown.
## Causes
Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. This gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.
Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality—such as a large deletion or rearrangement of genetic material—in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It is unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.
### Learn more about the gene and chromosome associated with Greig cephalopolysyndactyly syndrome
* GLI3
* chromosome 7
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition 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
|
Greig cephalopolysyndactyly syndrome
|
c0265306
| 26,071 |
medlineplus
|
https://medlineplus.gov/genetics/condition/greig-cephalopolysyndactyly-syndrome/
| 2021-01-27T08:25:44 |
{"gard": ["6550"], "mesh": ["C537300"], "omim": ["175700"], "synonyms": []}
|
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
|
c1839910
| 26,072 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2339
| 2021-01-23T18:34:31 |
{"gard": ["3099"], "mesh": ["C536158"], "omim": ["308830"], "umls": ["C1839910"], "icd-10": ["Q87.1"]}
|
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
People with mannose-binding lectin deficiency can develop infections of the upper respiratory tract and other body systems. Individuals with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.
Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections than affected adults, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.
## Frequency
Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans.
## Causes
Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each composed of three of the protein pieces (subunits) produced from the MBL2 gene.
Mannose-binding lectin plays an important role in the body's immune response by attaching to foreign invaders such as bacteria, viruses, or yeast and turning on (activating) the complement system. The complement system is a group of immune system proteins that work together to destroy foreign invaders (pathogens), trigger inflammation, and remove debris from cells and tissues. Mannose-binding lectin can also stimulate special immune cells to engulf and break down the attached pathogen.
Mutations in the MBL2 gene can reduce the production of the mannose-binding lectin subunit or eliminate the subunit's ability to assemble into functional mannose-binding lectin. A decrease in the availability of the normal subunit protein may lead to a reduction of the functional mannose-binding lectin in blood. With decreased levels of mannose-binding lectin, the body does not recognize and fight foreign invaders efficiently. Consequently, infections can be more common in people with this condition.
However, not everyone with a change in the MBL2 gene has decreased levels of mannose-binding lectin, and not everyone with decreased protein levels is prone to infection. Researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency and susceptibility to infection.
### Learn more about the gene associated with Mannose-binding lectin deficiency
* MBL2
## Inheritance Pattern
The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people inherit an increased risk of developing mannose-binding lectin deficiency, not the condition itself. Not all people who inherit mutations in this gene will develop 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
|
Mannose-binding lectin deficiency
|
c3280586
| 26,073 |
medlineplus
|
https://medlineplus.gov/genetics/condition/mannose-binding-lectin-deficiency/
| 2021-01-27T08:24:57 |
{"gard": ["10309"], "mesh": ["C563602"], "omim": ["614372"], "synonyms": []}
|
A number sign (#) is used with this entry because plasma platelet-activating factor (PAF) acetylhydrolase deficiency (PAFAD) is caused by homozygous mutation in the PLA2G7 gene (601690) on chromosome 6p12.
Description
Deficiency of plasma platelet-activating factor acetylhydrolase results in increased levels of PAF, a chemotactic lipid that activates inflammatory cells, bronchoconstriction, and airway hyperresponsiveness, and can moderate the release of inflammatory agonists. Asthmatic individuals with PAF acetylhydrolase deficiency may have exacerbated symptoms (summary by Stafforini et al., 1999).
Clinical Features
In Japan, Miwa et al. (1988) identified 12 individuals from 10 families with a deficiency of plasma PAF acetylhydrolase detected by a population-based study measuring enzyme activity using a method developed by the authors. The pattern of activity was consistent with an autosomal recessive trait for severe deficiency, as putative heterozygous carriers had half-normal levels of enzyme activity. LDL cholesterol and triacylglycerol levels were not significantly different among those with different enzyme activity. The second part of the study looked at plasma enzyme activity of 175 asthmatic children. In those without asthmatic attacks, PAF acetylhydrolase activity was reduced in the severe group compared to those with milder symptoms. However, there were no significant differences in enzymatic activity between patients with and those without asthma attacks. The probability of occurrence of PAF acetylhydrolase deficiency was significantly higher among those in the severe group compared to those with slight symptoms or without asthma. An important finding of the study was that not all those with PAF acetylhydrolase deficiency had clinically apparent symptoms, but Miwa et al. (1988) concluded that low or deficient activity of this enzyme may cause more severe respiratory symptoms in asthmatic children.
Inheritance
Plasma platelet-activating factor acetylhydrolase deficiency is inherited in an autosomal recessive manner (Stafforini et al., 1996).
Molecular Genetics
In Japanese families, Stafforini et al. (1996) showed that this inherited deficiency is the result of a mutation in the PLA2G7 gene (V279F; 601690.0001), and that the mutation completely abolishes enzymatic activity. They estimated that 27% of Japanese are heterozygous for the mutation, which was not found in 108 individuals from North America. The findings suggested that a decreased ability to degrade PAF may allow it to accumulate, provoking or amplifying the asthmatic response. Nadel (1996) discussed the findings and noted that even the small decrease in activity in heterozygotes could have a significant physiologic effect in the presence of inflammatory responses.
Hiramoto et al. (1997) and Jang et al. (2006) presented evidence that the V279F allele may play a role in stroke or cardiovascular disease.
Saleheen et al. (2017) sequenced the protein-coding regions of 10,503 adult participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS), designed to understand the determinants of cardiometabolic diseases in individuals from South Asia. They identified 2 participants who were homozygous for a splice site mutation, c.663+1G-A (601690.0004), and 106 who were heterozygous for the mutation. Homozygosity was associated with absent enzymatic activity of soluble lipoprotein-associated phospholipase A2. There was a dose-dependent response relationship between genotype and enzymatic activity.
Population Genetics
Miwa et al. (1988) found that PAF acetylhydrolase activity was absent in 4% of the Japanese population.
INHERITANCE \- Autosomal recessive RESPIRATORY Airways \- Asthma susceptibility LABORATORY ABNORMALITIES \- Platelet-activating factor acetylhydrolase deficiency MISCELLANEOUS \- PAF acetylhydrolase activity is absent in 4% of the Japanese population MOLECULAR BASIS \- Caused by mutation in the phospholipase A2, group VII gene (PLA2G7, 601690.0001 ) ▲ 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
|
PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
|
c3280315
| 26,074 |
omim
|
https://www.omim.org/entry/614278
| 2019-09-22T15:55:54 |
{"mesh": ["C566640"], "omim": ["614278"]}
|
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lymphedema-distichiasis syndrome
|
c0265345
| 26,075 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33001
| 2021-01-23T17:27:10 |
{"gard": ["333"], "mesh": ["C537710"], "omim": ["153400"], "umls": ["C0265345"], "icd-10": ["Q82.0"]}
|
Lipedematous alopecia
Other namesLipedematous scalp[1]
SpecialtyDermatology
Lipedematous alopecia is a disorder characterized by a thick boggy scalp and hair loss.[1]
## See also[edit]
* Hot comb alopecia
* 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.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lipedematous alopecia
|
c0406630
| 26,076 |
wikipedia
|
https://en.wikipedia.org/wiki/Lipedematous_alopecia
| 2021-01-18T18:41:12 |
{"gard": ["12974"], "umls": ["C0406630"], "wikidata": ["Q6556287"]}
|
Loin pain hematuria syndrome (LPHS) causes severe, unexplained loin pain and blood in the urine (hematuria). The pain can be on one side of body or both sides. The frequency and length of pain episodes can vary. The blood may be easily seen in the urine or may only be seen under a microscope. Diagnosis of LPHS includes a variety of tests that rule out other possible causes of the loin pain and blood in the urine. LPHS is considered primary when it occurs without finding any damage to the tiny blood cleaning filters of the kidneys (glomeruli), and secondary when it occurs with glomerular disease caused by another disease, such as IgA nephropathy. A kidney biopsy is needed to tell the difference between primary and secondary LPHS.
The cause of primary LPHS is currently unknown. Unless the glomerular disease is treatable, treatment of both primary and secondary LPHS focuses on relieving the symptoms, mainly through pain management. LPHS is not known to cause major kidney damage, end-stage kidney disease, or early death. Treatment for LPHS is focused on managing the pain.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Loin pain hematuria syndrome
|
c0268712
| 26,077 |
gard
|
https://rarediseases.info.nih.gov/diseases/6920/loin-pain-hematuria-syndrome
| 2021-01-18T17:59:20 |
{"umls": ["C0268712"], "synonyms": ["LPHS"]}
|
A number sign (#) is used with this entry because of evidence that the disorder is caused by mutation in the ITM2B gene (603904), which is also the site of mutation in familial British dementia (FBD; 176500).
Clinical Features
Stromgrem et al. (1970) described this syndrome in 9 persons in 5 generations of a Danish family. Intention tremor was present. Paranoid psychosis or increasing dementia occurred in late life. Posterior polar cataracts appeared between ages 20 and 30, and deafness which appeared about the same time became severe by age 45. In a follow-up, Stromgrem (1981) presented a pedigree with affected persons in 5 sibships of 4 generations but no male-to-male transmission. The brain was examined in 1 case; 'the dominating pathological feature was an accumulation of large quantities of cholesterol and cholesterol compounds freely in the tissue and, to a lesser degree, in glial cells, walls and lumina of vessels.' Stromgrem (1982) reported that further cases had appeared in the family in the 2.5 years since he prepared the follow-up.
Cataracts seem to be the first manifestation of familial Danish dementia, starting before the age of 30, whereas impaired hearing usually develops 10 to 20 years later. Cerebellar ataxia occurs shortly after the age of 40, followed by paranoid psychosis and dementia 10 years later. Most patients die in their fifth to sixth decade of life. Neuropathologically, the disease is characterized by a uniform diffuse atrophy of all parts of the brain; a very severe chronic diffuse encephalopathy, mostly in the cerebellum, the cerebral cortex, and the white matter; and the presence of extremely thin and almost completely demyelinated cranial nerves. A widespread amyloid angiopathy is present in the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord, and retina. The presence of plaques and neurofibrillary tangles is the major histopathologic finding in the hippocampus, whereas the cerebral white matter also shows some ischemic lesions (Vidal et al., 2000).
Molecular Genetics
Vidal et al. (2000) reported the isolation and biochemical characterization of a de novo-created amyloid protein and the identification of the genetic defect in the ITM2B gene (603904.0002) that results in dementia in the Danish kindred originally reported by Stromgrem et al. (1970).
Pathogenesis
Like Alzheimer disease (AD; 104300), FBD and FDD are associated with amyloid deposition and neurodegeneration in the central nervous system. In addition, proteins of the complement system and their proinflammatory activation products, which are among the inflammatory markers associated with lesions characteristic of AD, are also associated with FBD and FDD. Rostagno et al. (2002) showed that parenchymal plaques and cerebrovascular amyloid deposits in FBD and FDD brain sections contained complement activation products of the classical and alternative pathways, including iC3b, C4d, Bb, and C5b-9. Hemolytic studies of amyloid peptides from FBD (ABri) and FDD (ADan) showed specific binding to C1q and activation of both the classical (70-75% of activation) and alternative pathways (25-30% of activation), at levels comparable to those generated by beta-amyloid 1-42 in AD. Rostagno et al. (2002) suggested that the chronic inflammatory response generated by amyloid peptides may be a contributing factor to the pathogenesis of FBD, FDD, and AD.
Animal Model
Coomaraswamy et al. (2010) developed transgenic mice expressing the Danish mutant form of ITM2B (603904.0002). Immunohistochemical analysis detected the Danish amyloid (ADan) peptide at 2 months of age in hippocampus and meningeal vessels. By 18 months, ADan deposition was detected throughout the brain, with the majority of ADan deposits associated with the vasculature. In larger vessels, ADan was confined to the vessel wall with a sheet-like appearance. In smaller vessels, ADan often completely obstructed the vessel lumen. ADan appeared to be integrated into the endothelial and vascular basement membrane and led to abnormal thickening of the membrane, with destruction of vessel wall integrity and loss of vascular smooth muscle cells with age. ADan lesions evoked a neuroinflammatory response and were associated with microhemorrhage, neuritic dystrophy, and behavioral changes, including impaired function in the Morris water maze and increased anxiety in the open field.
Eyes \- Posterior polar cataracts Inheritance \- Autosomal dominant Neuro \- Ataxia \- Intention tremor \- Psychosis \- Dementia Lab \- Large quantities of cholesterol and cholesterol compounds in tissue and in glial cells, walls and lumina of vessels Ears \- Hearing loss ▲ 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
|
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
|
c1861735
| 26,078 |
omim
|
https://www.omim.org/entry/117300
| 2019-09-22T16:43:37 |
{"doid": ["0070030"], "mesh": ["C538209"], "omim": ["117300"], "orphanet": ["439254", "97346"], "synonyms": ["DEMENTIA, FAMILIAL DANISH", "Alternative titles", "Familial cerebral amyloid angiopathy", "ITM2B-related amyloidosis", "ITM2B-related cerebral amyloid angiopathy", "CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS", "FAMILIAL DANISH DEMENTIA", "HEREDOPATHIA OPHTHALMOOTOENCEPHALICA"]}
|
A number sign (#) is used with this entry because of evidence that Meckel syndrome-8 (MKS8) is caused by homozygous mutation in the TCTN2 gene (613846) on chromosome 12q24.31. One such family has been reported.
Description
Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Clinical Features
Shaheen et al. (2011) described a multiplex consanguineous Saudi family in which 5 individuals had Meckel-Gruber syndrome defined as the presence of encephalocele and any of the following: biliary ductal dysplasia, renal dysplasia, or polydactyly. One child died at 2 hours of age and was found to have encephalocele, polydactyly, and renal anomalies by report. A second child was delivered at 36 weeks' gestation to a 26-year-old healthy gravida-5/para-4 mother and a 31-year-old father. Antenatal ultrasound scan revealed anhydramnios, grossly enlarged echogenic kidneys, polydactyly, and encephalocele. Apgar scores were 3 and 2 at 1 and 5 minutes, respectively. Examination showed dysmorphic features consisting of occipital encephalocele, broad forehead, flat hypoplastic nose, anophthalmia, cleft lip and palate, low-set malformed ears, short neck, polydactyly of both hands and feet with equinovarus deformity, grossly distended abdomen due to bilateral renal enlargement, and normal female genitalia. She died at 30 minutes of age. A third child was born at term and by history had genital ambiguity, large encephalocele, 4-limb polydactyly, and renal anomalies; she died within 1 hour of delivery. A fourth child was diagnosed antenatally at 23 weeks' gestation with severe microcephaly, large occipital encephalocele, abnormal intracranial structures, bilateral enlarged polycystic kidneys, narrow chest, and 4-limb polydactyly. The mother was induced and the fetus was delivered dead at 24 weeks. Examination revealed severe microcephaly, microphthalmia, cleft palate, large occipital encephalocele, distended abdomen, and 4-limb polydactyly. One pregnancy was terminated at 15 weeks following the ultrasonographic finding of occipital encephalocele, bilateral polycystic kidneys, pericardial effusion, fixed lower limbs, and polydactyly.
Molecular Genetics
In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011) identified homozygosity for a splice site mutation in the TCTN2 gene (613846.0001) that completely abolished normal splicing and created 2 aberrant transcripts. The mutation was found to segregate with disease in the family in homozygosity and was not observed in 192 ethnically matched controls.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly \- Broad forehead Ears \- Low-set, malformed ears Eyes \- Anophthalmia \- Microphthalmia Nose \- Hypoplastic nose \- Flat nose Mouth \- Cleft lip Neck \- Short neck ABDOMEN External Features \- Distended abdomen Liver \- Bile duct dysplasia GENITOURINARY Kidneys \- Cystic dysplasia SKELETAL Hands \- Polydactyly, postaxial Feet \- Polydactyly, postaxial \- Pes equinovarus NEUROLOGIC Central Nervous System \- Encephalocele, occipital MISCELLANEOUS \- Lethal in utero or perinatal lethal \- One consanguineous Arab family has been reported (last curated April 2015) MOLECULAR BASIS \- Caused by mutation in the tectonic family, member 2 gene (TCTN2, 613846.0001 ) ▲ 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
|
MECKEL SYNDROME, TYPE 8
|
c0265215
| 26,079 |
omim
|
https://www.omim.org/entry/613885
| 2019-09-22T15:57:04 |
{"doid": ["0070122"], "omim": ["613885"], "orphanet": ["564"]}
|
A visual aura associated with migraine
Scintillating scotoma
Other namesVisual migraine[1]
Teichopsia[2]
Example of a scintillating scotoma, as may be caused by cortical spreading depression
SpecialtyNeuro-ophthalmology
Scintillating scotoma is a common visual aura that was first described by 19th-century physician Hubert Airy (1838–1903). It may precede a migraine headache, but can also occur acephalgically (without headache). It is often confused with retinal migraine, which originates in the eyeball or socket.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Prognosis
* 4 Etymology
* 5 See also
* 6 References
* 6.1 Works cited
* 7 External links
## Signs and symptoms[edit]
An artist's depiction of a scintillating scotoma with a bilateral arc.
Many variations occur, but scintillating scotoma usually begins as a spot of flickering light near or in the center of the visual field, which prevents vision within the scotoma area. It typically affects both eyes, as it is not a problem specific to one eye. The affected area flickers but is not dark. It then gradually expands outward from the initial spot. Vision remains normal beyond the borders of the expanding scotoma(s), with objects melting into the scotoma area background similarly to the physiological blind spot, which means that objects may be seen better by not looking directly at them in the early stages when the spot is in or near the center. The scotoma area may expand to completely occupy one half of the visual area, or it may also be bilateral. It may occur as an isolated symptom without headache in acephalgic migraine.
In teichopsia, migraine sufferers see patterns in the shape of the walls of a star fort.
As the scotoma area expands, some people perceive only a bright flickering area that obstructs normal vision, while others describe seeing various patterns. Some describe seeing one or more shimmering arcs of white or colored flashing lights. An arc of light may gradually enlarge, become more obvious, and may take the form of a definite zigzag pattern, sometimes called a fortification spectrum (i.e. teichopsia, from Greek τεῖχος, town wall), because of its resemblance to the fortifications of a castle or fort seen from above.[3] It also can resemble the dazzle camouflage patterns used on ships in World War I. Others describe patterns within the arc as resembling Widmanstätten patterns.
The visual anomaly results from abnormal functioning of portions of the occipital cortex at the back of the brain, not in the eyes nor any component thereof, such as the retinas.[4] This is a different disease from retinal migraine, which is monocular (only one eye).[5]
It may be difficult to read and dangerous to drive a vehicle while the scotoma is present. Normal central vision may return several minutes before the scotoma disappears from peripheral vision.
Sufferers can keep a diary of dates on which the episodes occur to show to their physician, plus a small sketch of the anomaly, which may vary between episodes.
Animated depictions
* Flickering animation of a scintillating scotoma, where the scintillations were of a zigzag pattern starting in the center of vision, surrounded by a somewhat larger scotoma area with distortion of shapes but otherwise melting into the background similarly to the physiological blind spot.
* A depiction of a scintillating scotoma that was almost spiral-shaped, with distortion of shapes but otherwise melting into the background similarly to the physiological blind spot. This depiction shows the type of patterning that some have described as similar to Widmanstätten patterns.
* A depiction of a scintillating scotoma that was almost spiral-shaped, with distortion of shapes but otherwise melting into the background similarly to the physiological blind spot.
## Causes[edit]
Scintillating scotomas are most commonly caused by cortical spreading depression, a pattern of changes in the behavior of nerves in the brain during a migraine. Migraines, in turn, may be caused by genetic influences and hormones. People with migraines often self-report triggers for migraines involving stress or foods,[6] or bright lights.[7] While monosodium glutamate (MSG) is frequently reported as a dietary trigger,[8] scientific studies do not support this claim.[9]
The Framingham Heart Study, published in 1998, surveyed 5,070 people between ages 30–62 and found that scintillating scotomas without other symptoms occurred in 1.23% of the group. The study did not find a link between late-life onset scintillating scotoma and stroke.[10]
## Prognosis[edit]
Symptoms typically appear gradually over 5 to 20 minutes and generally last less than 60 minutes, leading to the headache in classic migraine with aura, or resolving without consequence in acephalgic migraine.[3] Many migraine sufferers change from scintillating scotoma as a prodrome to migraine to scintillating scotoma without migraine. Typically the scotoma resolves spontaneously within the stated time frame, leaving no subsequent symptoms, though some report fatigue, nausea, and dizziness as sequelae.[11]
## Etymology[edit]
The British physician John Fothergill described the condition in the 18th century and called it fortification spectrum.[12] The British physician Hubert Airy coined the term scintillating scotoma for it by 1870; he derived it from the Latin scintilla "spark" and the Ancient Greek skotos "darkness".[13] Other terms for the condition include flittering scotoma, fortification figure, fortification of Vauban, geometrical spectrum, herringbone, Norman arch, teichopsia,[14] and telehopsia.[12]
## See also[edit]
* Aura (symptom)
* Scotoma
* Hallucinations in the sane
* Retinal migraine
* Phosphene – Visual illusion
## References[edit]
1. ^ Prasad, Sashank. "Visual Migraine" (PDF). Brigham and Women's Hospital. Harvard Medical School. Archived from the original (PDF) on 18 March 2015. Retrieved 4 October 2016.
2. ^ "teichopsia". Concise Medical Dictionary (8 ed.). Oxford University Press. 2010. doi:10.1093/acref/9780199557141.001.0001. ISBN 9780199557141. Retrieved December 15, 2020 – via oxfordreference.com.
3. ^ a b "imigraine.net". Retrieved 24 June 2015.
4. ^ "imigraine.net". Archived from the original on 19 July 2009. Retrieved 24 June 2015.
5. ^ Grosberg, Brian M.; Solomon, Seymour; Lipton, Richard B. (2005). "Retinal migraine". Current Pain and Headache Reports. 9 (4): 268–271. doi:10.1007/s11916-005-0035-2. PMID 16004843.
6. ^ Scott, Paul M. "Scintillating Scotoma (Migraine Scotoma)". Retrieved 22 June 2020. Alternate version: "Scintillating Scotoma (Migraine Scotoma)". Archived from the original on 20 October 2012.
7. ^ Newman, Lawrence C. (19 July 2017). "Loud Noises, Bright Lights, and Migraines". WebMD. Retrieved 22 June 2020.
8. ^ Sun-Edelstein C, Mauskop A (June 2009). "Foods and supplements in the management of migraine headaches". The Clinical Journal of Pain. 25 (5): 446–52. CiteSeerX 10.1.1.530.1223. doi:10.1097/AJP.0b013e31819a6f65. PMID 19454881.
9. ^ Freeman M (October 2006). "Reconsidering the effects of monosodium glutamate: a literature review". J Am Acad Nurse Pract. 18 (10): 482–6. doi:10.1111/j.1745-7599.2006.00160.x. PMID 16999713.
10. ^ Christine A. C. Wijman; Philip A. Wolf; Carlos S. Kase; Margaret Kelly-Hayes; Alexa S. Beiser (August 1998). "Migrainous Visual Accompaniments Are Not Rare in Late Life: the Framingham Study". Stroke. 29 (8): 1539–1543. doi:10.1161/01.STR.29.8.1539. PMID 9707189.
11. ^ Ekbom, Karl (2005-06-23). "Migraine in Patients with Cluster Headache". Headache: The Journal of Head and Face Pain. 14 (2): 69–72. doi:10.1111/j.1526-4610.1974.hed1402069.x.
12. ^ a b Blom 2009, pp. 199.
13. ^ Blom 2009, p. 464.
14. ^ Blom 2009, pp. 463–464.
### Works cited[edit]
* Gardner-Medwin AR (1981). "Possible roles of vertebrate neuroglia in potassium dynamics, spreading depression and migraine". J. Exp. Biol. 95: 111–27. PMID 7334315.
* Hadjikhani N, Sanchez Del Rio M, Wu O, et al. (2001). "Mechanisms of migraine aura revealed by functional MRI in human visual cortex". Proc. Natl. Acad. Sci. U.S.A. 98 (8): 4687–4692. Bibcode:2001PNAS...98.4687H. doi:10.1073/pnas.071582498. PMC 31895. PMID 11287655.
* Blom, Jan Dirk, ed. (2009). A Dictionary of Hallucinations. Springer Science & Business Media. ISBN 978-1-4419-1223-7.
Wikimedia Commons has media related to Scintillating scotoma.
## External links[edit]
Classification
D
* ICD-10: H53.1
* ICD-9-CM: 368.12
* OMIM: 613656
* MeSH: D012607
External resources
* eMedicine: neuro/480
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
* v
* t
* e
Phenomena of the visual system
Entoptic phenomena
* Blind spot
* Phosphene
* Floater
* Afterimage
* Haidinger's brush
* Prisoner's cinema
* Blue field entoptic phenomenon
* Purkinje images
Other phenomena
* Aura
* Form constant
* Scintillating scotoma
* Palinopsia
* Visual snow
* Afterimage on empty shape
* Cosmic ray visual phenomena
* Scotopic sensitivity syndrome
* Closed-eye hallucination
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Scintillating scotoma
|
c0235068
| 26,080 |
wikipedia
|
https://en.wikipedia.org/wiki/Scintillating_scotoma
| 2021-01-18T18:55:41 |
{"mesh": ["D012607"], "icd-9": ["368.12"], "icd-10": ["H53.1"], "wikidata": ["Q2637106"]}
|
Malabsorption
Whipple's disease: Alcian blue with apparently eosin counterstain enlarged villus with many macrophages
SpecialtyGastroenterology
ComplicationsMalnutrition; anaemia; steatorrhoea; diarrhoea
CausesCoeliac disease; short bowel syndrome; lactase deficiency; exocrine pancreatic insufficiency; small intestinal bacterial overgrowth; Whipple's disease; genetic diseases; certain medications[1]
TreatmentDepends on cause
Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a variety of anaemias.[1]
Normally the human gastrointestinal tract digests and absorbs dietary nutrients with remarkable efficiency. A typical Western diet ingested by an adult in one day includes approximately 100 g of fat, 400 g of carbohydrate, 100 g of protein, 2 L of fluid, and the required sodium, potassium, chloride, calcium, vitamins, and other elements.[citation needed] Salivary, gastric, intestinal, hepatic, and pancreatic secretions add an additional 7–8 L of protein-, lipid-, and electrolyte-containing fluid to intestinal contents. This massive load is reduced by the small and large intestines to less than 200 g of stool that contains less than 8 g of fat, 1–2 g of nitrogen, and less than 20 mmol each of Na+, K+, Cl–, HCO3–, Ca2+, or Mg2+.
If there is impairment of any of the many steps involved in the complex process of nutrient digestion and absorption, intestinal malabsorption may ensue. If the abnormality involves a single step in the absorptive process, as in primary lactase deficiency, or if the disease process is limited to the very proximal small intestine, then selective malabsorption of only a single nutrient may occur. However, generalized malabsorption of multiple dietary nutrients develops when the disease process is extensive, thus disturbing several digestive and absorptive processes, as occurs in coeliac disease with extensive involvement of the small intestine.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Gastrointestinal manifestations
* 1.2 Extraintestinal manifestations
* 1.3 Presentation
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Classification
* 4.2 Blood tests
* 4.3 Stool studies
* 4.4 Radiological studies
* 4.5 Interventional studies
* 4.6 Other investigations
* 4.7 Obsolete tests no longer used clinically
* 5 Management
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Gastrointestinal manifestations[edit]
Depending on the nature of the disease process causing malabsorption and its extent, gastrointestinal symptoms may range from severe to subtle or may even be totally absent. Diarrhea, weight loss, flatulence, abdominal bloating, abdominal cramps, and pain may be present. Although diarrhea is a common complaint, the character and frequency of stools may vary considerably ranging from over 10 watery stools per day to less than one voluminous putty-like stool, the latter causing some patients to complain of constipation. On the other hand, stool mass is invariably increased in patients with steatorrhea and generalized malabsorption above the normal with 150–200 g/day. Not only do unabsorbed nutrients contribute to stool mass but mucosal fluid and electrolyte secretion is also increased in diseases associated with mucosal inflammation such as coeliac disease. In addition, unabsorbed fatty acids, converted to hydroxy-fatty acids by colonic flora, as well as unabsorbed bile acids both impair absorption and induce secretion of water and electrolytes by the colon adding to stool mass. Weight loss is common among patients with significant intestinal malabsorption but must be evaluated in the context of caloric intake. Some patients compensate for fecal wastage of unabsorbed nutrients by significantly increasing their oral intake. Eliciting a careful dietary history from patients with suspected malabsorption is therefore crucial. Excessive flatus and abdominal bloating may reflect excessive gas production due to fermentation of unabsorbed carbohydrate, especially among patients with a primary or secondary disaccharidase deficiency, such as lactose intolerance or sucrose intolerance. Malabsorption of dietary nutrients and excessive fluid secretion by inflamed small intestine also contribute to abdominal distention and bloating. Prevalence, severity, and character of abdominal pain vary considerably among the various disease processes associated with intestinal malabsorption. For example, pain is common in patients with chronic pancreatitis or pancreatic cancer and Crohn's disease, but it is absent in many patients with coeliac disease or postgastrectomy malabsorption.[1]
### Extraintestinal manifestations[edit]
Substantial numbers of patients with intestinal malabsorption present initially with symptoms or laboratory abnormalities that point to other organ systems in the absence of or overshadowing symptoms referable to the gastrointestinal tract. For example, there is increasing epidemiologic evidence that more patients with coeliac disease present with anemia and osteopenia in the absence of significant classic gastrointestinal symptoms. Microcytic, macrocytic, or dimorphic anemia may reflect impaired iron, folate, or vitamin B12 absorption. Purpura, subconjunctival hemorrhage, or even frank bleeding may reflect hypoprothrombinemia secondary to vitamin K malabsorption. Osteopenia is common, especially in the presence of steatorrhea. Impaired calcium and vitamin D absorption and chelation of calcium by unabsorbed fatty acids resulting in fecal loss of calcium may all contribute. If calcium deficiency is prolonged, secondary hyperparathyroidism may develop. Prolonged malnutrition may induce amenorrhea, infertility, and impotence. Edema and even ascites may reflect hypoproteinemia associated with protein losing enteropathy caused by lymphatic obstruction or extensive mucosal inflammation. Dermatitis and peripheral neuropathy may be caused by malabsorption of specific vitamins or micronutrients and essential fatty acids.[2]
### Presentation[edit]
Small intestine : major site of absorption
Symptoms can manifest in a variety of ways and features might give a clue to the underlying condition. Symptoms can be intestinal or extra-intestinal - the former predominates in severe malabsorption.
* Diarrhoea, often steatorrhoea, is the most common feature. Watery, diurnal and nocturnal, bulky, frequent stools are the clinical hallmark of overt malabsorption. It is due to impaired water, carbohydrate and electrolyte absorption or irritation from unabsorbed fatty acid. The latter also results in bloating, flatulence and abdominal discomfort. Cramping pain usually suggests obstructive intestinal segment e.g. in Crohn's disease, especially if it persists after defecation.[3]
* Weight loss can be significant despite increased oral intake of nutrients.[4]
* Growth retardation, failure to thrive, delayed puberty in children
* Swelling or oedema from loss of protein
* Anaemias, commonly from vitamin B12, folic acid and iron deficiency presenting as fatigue and weakness.
* Muscle cramp from decreased vitamin D, calcium absorption. Also lead to osteomalacia and osteoporosis
* Bleeding tendencies from vitamin K and other coagulation factor deficiencies.
## Causes[edit]
Due to infective agents
* HIV related malabsorption
* Intestinal tuberculosis
* Parasites e.g., diphyllobothrium (fish tape worm) (B12 malabsorption), giardiasis (Giardia lamblia), hookworm (Ancylostoma duodenale roundworm, and Necator americanus)
* Traveler's diarrhea
* Tropical sprue
* Whipple's disease
Due to structural defects[5]
* Blind loops
* Fistulae, diverticula and strictures
* Infiltrative conditions such as amyloidosis, lymphoma, eosinophilic gastroenteritis
* Inflammatory bowel diseases, as in Crohn's disease
* Radiation enteritis
* Short bowel syndrome
* Systemic sclerosis and collagen vascular diseases
Due to surgical structural changes
* Bariatric surgery (Weight loss surgery)
* Gastrectomy; Vagotomy
Due to mucosal abnormality
* Coeliac disease
* Cows' milk intolerance
* Fructose malabsorption
* Soya milk intolerance
Due to enzyme deficiencies
* Lactase deficiency inducing lactose intolerance (constitutional, secondary or rarely congenital)
* Intestinal disaccharidase deficiency
* Intestinal enteropeptidase deficiency
* Sucrose intolerance
Due to digestive failure
* Bile acid/Bile salt malabsorption
* Bacterial overgrowth
* Obstructive jaundice
* Primary bile acid diarrhea
* Terminal ileal disease such as Crohn's disease
* Pancreatic insufficiencies:
* Carcinoma of pancreas
* Chronic pancreatitis
* Cystic fibrosis
* Zollinger-Ellison syndrome
Due to other systemic diseases affecting GI tract
* Abetalipoproteinaemia
* Addison's disease
* Carcinoid syndrome
* Coeliac disease
* Common variable immunodeficiency (CVID)
* Fiber Deficiency
* Hypothyroidism and hyperthyroidism
* Diabetes mellitus
* Hyperparathyroidism and Hypoparathyroidism
* Malnutrition
Other Possible Causes
* Chronic Proton Pump Inhibitor Use[6]
## Pathophysiology[edit]
The main purpose of the gastrointestinal tract is to digest and absorb nutrients (fat, carbohydrate, protein, micronutrients (vitamins and trace minerals), water, and electrolytes. Digestion involves both mechanical and enzymatic breakdown of food. Mechanical processes include chewing, gastric churning, and the to-and-fro mixing in the small intestine. Enzymatic hydrolysis is initiated by intraluminal processes requiring gastric, pancreatic, and biliary secretions. The final products of digestion are absorbed through the intestinal epithelial cells.[citation needed]
Malabsorption constitutes the pathological interference with the normal physiological sequence of digestion (intraluminal process), absorption (mucosal process) and transport (postmucosal events) of nutrients.[3]
Intestinal malabsorption can be due to:[7]
* Congenital or acquired reduction in absorptive surface
* Defects of ion transport
* Defects of specific hydrolysis
* Impaired enterohepatic circulation
* Mucosal damage (enteropathy)
* Pancreatic insufficiency
## Diagnosis[edit]
There is no single, specific test for malabsorption. As for most medical conditions, investigation is guided by symptoms and signs. A range of different conditions can produce malabsorption and it is necessary to look for each of these specifically. Many tests have been advocated, and some, such as tests for pancreatic function are complex, vary between centers and have not been widely adopted. However, better tests have become available with greater ease of use, better sensitivity and specificity for the causative conditions. Tests are also needed to detect the systemic effects of deficiency of the malabsorbed nutrients (such as anaemia with vitamin B12 malabsorption).[citation needed]
### Classification[edit]
Some[who?] prefer to classify malabsorption clinically into three basic categories:[8]
1. selective, as seen in lactose malabsorption.
2. partial, as observed in abetalipoproteinaemia.
3. total, as in exceptional cases of coeliac disease.[9]
### Blood tests[edit]
* Routine blood tests may reveal anaemia, high CRP or low albumin; which shows a high correlation for the presence of an organic disease.[10][11] In this setting, microcytic anaemia usually implies iron deficiency and macrocytosis can be caused by impaired folic acid or B12 absorption or both. Low cholesterol or triglyceride may give a clue toward fat malabsorption.[12] Low calcium and phosphate may give a clue toward osteomalacia from low vitamin D.[12]
* Specific vitamins like vitamin D or micro nutrient like zinc levels can be checked. Fat soluble vitamins (A, D, E and K) are affected in fat malabsorption. Prolonged prothrombin time can be caused by vitamin K deficiency.
* Serological studies. Specific tests are carried out to determine the underlying cause.
IgA Anti-transglutaminase antibodies or IgA Anti-endomysial antibodies for Coeliac disease (gluten sensitive enteropathy).
### Stool studies[edit]
* Microscopy is particularly useful in diarrhoea, may show protozoa like Giardia, ova, cyst and other infective agents.
* Fecal fat study to diagnose steatorrhoea is rarely performed nowadays.
* Low fecal pancreatic elastase is indicative of pancreatic insufficiency. Chymotrypsin and pancreolauryl can be assessed as well[12]
### Radiological studies[edit]
* Barium follow through is useful in delineating small intestinal anatomy. Barium enema may be undertaken to see colonic or ileal lesions.
* CT abdomen is useful in ruling out structural abnormality, done in pancreatic protocol when visualising pancreas.
* Magnetic resonance cholangiopancreatography (MRCP) to complement or as an alternative to ERCP.
### Interventional studies[edit]
Biopsy of small bowel showing coeliac disease manifested by blunting of villi, crypt hyperplasia, and lymphocyte infiltration of crypts.
* OGD to detect duodenal pathology and obtain D2 biopsy (for coeliac disease, tropical sprue, Whipple's disease, abetalipoproteinaemia etc.)
* Enteroscopy for enteropathy and jejunal aspirate and culture for bacterial overgrowth
* Capsule Endoscopy is able to visualise the whole small intestine and is occasionally useful.
* Colonoscopy is necessary in colonic and ileal disease.
* ERCP will show pancreatic and biliary structural abnormalities.
### Other investigations[edit]
* 75SeHCAT test to diagnose bile acid malabsorption in ileal disease or primary bile acid diarrhea.
* Glucose hydrogen breath test for bacterial overgrowth
* Lactose hydrogen breath test for lactose intolerance
* Sugar probes or 51Cr-EDTA to determine intestinal permeability.[3]
### Obsolete tests no longer used clinically[edit]
* D-xylose absorption test for mucosal disease or bacterial overgrowth. Normal in pancreatic insufficiency.
* Bile salt breath test (14C-glycocholate) to determine bile salt malabsorption.
* Schilling test to establish cause of B12 deficiency.
## Management[edit]
Treatment is directed largely towards management of underlying cause:[1]
* Replacement of nutrients, electrolytes and fluid may be necessary. In severe deficiency, hospital admission may be required for nutritional support and detailed advice from dietitians. Use of enteral nutrition by naso-gastric or other feeding tubes may be able to provide sufficient nutritional supplementation. Tube placement may also be done by percutaneous endoscopic gastrostomy, or surgical jejunostomy. In patients whose intestinal absorptive surface is severely limited from disease or surgery, long term total parenteral nutrition may be needed.
* Pancreatic enzymes are supplemented orally in pancreatic insufficiency.
* Dietary modification is important in some conditions:
* Gluten-free diet in coeliac disease.
* Lactose avoidance in lactose intolerance.
* Antibiotic therapy to treat Small Bowel Bacterial overgrowth.
* Cholestyramine or other bile acid sequestrants will help reducing diarrhoea in bile acid malabsorption.
## See also[edit]
* Fructose malabsorption
* Protein losing enteropathy
## References[edit]
1. ^ a b c d e "Malabsorption Syndrome". MedlinePlus. Retrieved 29 April 2018.
2. ^ Fine, KD; Schiller, LR (1999). "technical review on the evaluation and management of chronic diarrhea". Gastroenterology. 116 (6): 1464–1486. doi:10.1016/s0016-5085(99)70513-5. PMID 10348832.
3. ^ a b c Bai J (1998). "Malabsorption syndromes". Digestion. 59 (5): 530–46. doi:10.1159/000007529. PMID 9705537. S2CID 46786949.
4. ^ health a to z"Malabsorption syndrome". Archived from the original on 2007-05-22. Retrieved 2007-05-10.
5. ^ Losowsky, M.S. (1974). Malabsorption in clinical practice. Edinburgh: Churchill Livingstone. ISBN 0-443-01007-2.
6. ^ Heidelbaugh, Joel J. (June 2013). "Proton pump inhibitors and risk of vitamin and mineral deficiency: evidence and clinical implications". Therapeutic Advances in Drug Safety. 4 (3): 125–133. doi:10.1177/2042098613482484. ISSN 2042-0986. PMC 4110863. PMID 25083257.
7. ^ Walker-Smith J, Barnard J, Bhutta Z, Heubi J, Reeves Z, Schmitz J (2002). "Chronic diarrhea and malabsorption (including short gut syndrome): Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition". J. Pediatr. Gastroenterol. Nutr. 35 Suppl 2: S98–105. doi:10.1097/00005176-200208002-00006. PMID 12192177. S2CID 10373517.
8. ^ Gasbarrini G, Frisono M: Critical evaluation of malabsorption tests; in Dobrilla G, Bertaccini G (1986). Langman G (ed.). Problems and Controversies in Gastroenterology. New York: Raven Pr. pp. 123–130. ISBN 88-85037-75-5.
9. ^ Newnham ED (2017). "Coeliac disease in the 21st century: paradigm shifts in the modern age". J Gastroenterol Hepatol (Review). 32 Suppl 1: 82–85. doi:10.1111/jgh.13704. PMID 28244672.
10. ^ Bertomeu A, Ros E, Barragán V, Sachje L, Navarro S (1991). "Chronic diarrhea with normal stool and colonic examinations: organic or functional?". J. Clin. Gastroenterol. 13 (5): 531–6. doi:10.1097/00004836-199110000-00011. PMID 1744388.
11. ^ Read N, Krejs G, Read M, Santa Ana C, Morawski S, Fordtran J (1980). "Chronic diarrhea of unknown origin". Gastroenterology. 78 (2): 264–71. doi:10.1016/0016-5085(80)90575-2. PMID 7350049.
12. ^ a b c Thomas P, Forbes A, Green J, Howdle P, Long R, Playford R, Sheridan M, Stevens R, Valori R, Walters J, Addison G, Hill P, Brydon G (2003). "Guidelines for the investigation of chronic diarrhoea, 2nd edition". Gut. 52 Suppl 5 (90005): v1–15. doi:10.1136/gut.52.suppl_5.v1. PMC 1867765. PMID 12801941.
## External links[edit]
Classification
D
* ICD-10: (K90)
* ICD-9-CM: 579
* MeSH: D008286
* DiseasesDB: 7698
External resources
* MedlinePlus: 000299
* eMedicine: med/1384
* 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
|
Malabsorption
|
c0024523
| 26,081 |
wikipedia
|
https://en.wikipedia.org/wiki/Malabsorption
| 2021-01-18T18:30:38 |
{"mesh": ["D008286"], "icd-9": ["579", "579.9"], "icd-10": ["K90"], "wikidata": ["Q1442923"]}
|
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. (November 2013)
Left ventricular thrombus
Blood clots in the ventricle found on autopsy
Left ventricular thrombus is a blood clot (thrombus) in the left ventricle of the heart. LVT is a common complication of acute myocardial infarction (AMI).[1][2] Typically the clot is a mural thrombus, meaning it is on the wall of the ventricle.[3] The primary risk of LVT is the occurrence of cardiac embolism,[1][4] in which the thrombus detaches from the ventricular wall and travels through the circulation and blocks blood vessels. Blockage can be especially damaging in the heart or brain (stroke).[1][5]
## Contents
* 1 Pathophysiology
* 1.1 Stagnation of blood
* 1.2 Endothelial injury
* 1.3 Hypercoagulable state
* 2 Diagnosis
* 3 Prevention
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Pathophysiology[edit]
LVT occurs most often during the first 2 weeks following AMI.[1] AMI patients most at risk display the 3 characteristics of Virchow's triad:[1]
### Stagnation of blood[edit]
The risk of LVT formation increases as infarction size increases.[5] A larger infarction means a larger area of tissue injury, which may be akinetic or dyskinetic, resulting in stagnation of ventricular blood.[1]
### Endothelial injury[edit]
Monocytes and macrophages play important roles in healing after myocardial infarction. With the absence of monocytes and macrophages, chances of LVT formation are very high. Failure to clear cellular debris from the infarct compromises the endothelial lining of the left ventricle and exposes the damaged tissue to the blood.[6] The response is to build a thrombus composed of fibrin, red blood cells and platelets.[1]
### Hypercoagulable state[edit]
For several days after AMI, the levels of tissue factor and D-dimer, which are involved in coagulation, are high, which increases the risk of LVT formation.[7] LVT may be good for the heart when tissues are severely damaged because it acts to thicken the wall, thus protecting it against rupture.[1]
## Diagnosis[edit]
Echocardiography is the main diagnostic tool for LVT. A distinct mass is visible in the left ventricle. Computed Tomography and Magnetic Resonance Imaging are effective, but less common ways to detect LVT, due to their costs and risks.[1] It is possible to assess whether a thrombus will become an embolus through echocardiography. Mobility and protrusion of the thrombus are two characteristics associated with increased embolic potential.[8]
* Play media
Thrombus of the left ventricle resulting in embolism of the spleen[9]
* Play media
Thrombus of the left ventricle resulting in embolism of the spleen[9]
* Play media
Thrombus of the left ventricle resulting in embolism of the spleen[9]
* Thrombus of the left ventricle resulting in embolism of the spleen[9]
## Prevention[edit]
After an AMI, people should be treated to prevent LVT formation. Aspirin plus an oral anticoagulant such as warfarin are suggested for individuals at risk for thromboembolic events.[10] Anticoagulants are also shown to reduce the risk of embolisms[1][4] when a thrombus is already formed. Heparin, an injectable, fast-acting anticoagulant, is effective in high doses for preventing LVT formation after AMI.[1][11]
## Treatment[edit]
Systemic anticoagulation is considered first-line medical therapy for LVT, as it reduces the risk of systemic embolism.[12][10] There are also surgical procedures for removal of a thrombus (thrombectomy).
## Epidemiology[edit]
The rate of LVT formation after AMI is thought to be declining[13][14] due to the use of better therapies and percutaneous coronary intervention used to treat myocardial infarction.[1][5][7][15] In the modern era LVT formation after ST elevation MI treated with percutaneous coronary intervention is low, estimated at only 2.7%.[16] However, incidence of LVT is considered higher in anterior wall AMI, compared with other types.[17]
## References[edit]
1. ^ a b c d e f g h i j k l Delewi R.; Zijlstra F.; Piek J.J (2012). "Left Ventricular Thrombus Formation after Acute Myocardial Infarction". Heart. 98 (23): 1743–1749. doi:10.1136/heartjnl-2012-301962. PMC 3505867. PMID 23151669.
2. ^ Visser C. A.; Kan G.; David G. K.; Lie K. I.; Durrer D. (1983). "Two dimensional echocardiography in the diagnosis of left ventricular thrombus. A prospective study of 67 patients with anatomic validation". Chest. 83 (2): 228–232. doi:10.1378/chest.83.2.228.
3. ^ Reeder G. S.; Tajik A. J.; Seward J. B. (1981). "Left ventricular mural thrombus: Two-dimensional echocardiographic diagnosis". Mayo Clinic Proceedings. 56 (2): 82–86. PMID 7464235.
4. ^ a b Vaitkus PT, Barnathan ES (1994). "Embolic potential, prevention and management of mural thrombus complicating anterior myocardial infarction: a meta-analysis". J Am Coll Cardiol. 22 (4): 1004–9. doi:10.1016/0735-1097(93)90409-t. PMID 8409034.
5. ^ a b c Solheim S.; Seljeflot I.; Lunde K.; Bjørnerheim R.; Aakhus S.; Forfang K.; Arnesen H. (2010). "Frequency of left ventricular thrombus in patients with anterior wall acute myocardial infarction treated with percutaneous coronary intervention and dual antiplatelet therapy". The American Journal of Cardiology. 106 (9): 1197–1200. doi:10.1016/j.amjcard.2010.06.043.
6. ^ Frantz, S., Hofmann, U., Fraccarollo, D., Schäfer, A., Kranepuhl, S., Hagedorn, I., Nieswandt, B., Nahrendorf, M., Wagner, H., Bayer, B., Pachel, C., Schon, M., Kneitz, S., Bobinger, T., Weidemann, F., Ertl, G., Bauersachs, J. (2012). Monocytes/ macrophages prevent healing defects and left ventricular thrombus formation after myocardial infarction. The FASEB Journal.
7. ^ a b Solheim S.; Seljeflot I.; Lunde K.; Bratseth V.; Aakhus S.; Forfang K.; Arnesen H. (2013). "Prothrombotic markers in patients with acute myocardial infarction and left ventricular thrombus formation treated with pci and dual antiplatelet therapy". Thrombosis Journal. 11 (1): 1–6. doi:10.1186/1477-9560-11-1. PMC 3554510. PMID 23311309.
8. ^ Haugland JM, Asinger RW, Mikell FL, Elsperger J, Hodges M (1984). "Embolic potential of left ventricular thrombi detected by two-dimensional echocardiography". Circulation. 70: 588–598. doi:10.1161/01.cir.70.4.588.
9. ^ a b c d "UOTW #24 - Ultrasound of the Week". Ultrasound of the Week. 6 November 2014. Retrieved 27 May 2017.
10. ^ a b Van de Werf F., Staff E. S. C. (2008). "ESC Guidelines on the Management of Acute Myocardial Infarction in Patients Presenting with STEMI". European Heart Journal. 29: 2909–2945. doi:10.1093/eurheartj/ehn416. PMID 19004841.
11. ^ Turpie A. G.; Robinson J. G.; Doyle D. J.; Mulji A. S.; Mishkel G. J.; Sealey B. J.; Cairns J.A.; Skingley L.; Hirsh J.; Gent M. (1989). "Comparison of high-dose with low-dose subcutaneous heparin to prevent left ventricular mural thrombosis in patients with acute transmural anterior myocardial infarction". The New England Journal of Medicine. 320 (6): 352–357. doi:10.1056/nejm198902093200604. PMID 2643772.
12. ^ Vaitkus, P. T.; Barnathan, E. S. (October 1993). "Embolic potential, prevention and management of mural thrombus complicating anterior myocardial infarction: a meta-analysis". Journal of the American College of Cardiology. 22 (4): 1004–1009. doi:10.1016/0735-1097(93)90409-t. ISSN 0735-1097. PMID 8409034.
13. ^ Asinger R. W.; Mikell F. L.; Elsperger J.; Hodges M. (1981). "Incidence of left- ventricular thrombosis after acute transmural myocardial infarction. Serial evaluation by two-dimensional echocardiography". The New England Journal of Medicine. 305 (6): 297–302. doi:10.1056/nejm198108063050601. PMID 7242633.
14. ^ Stokman P. J.; Nandra C. S.; Asinger R. W. (2001). "Left ventricular thrombus". Current Treatment Options in Cardiovascular Medicine. 3 (6): 515–521. doi:10.1007/s11936-001-0025-6.
15. ^ Osherov A. B.; Borovik-Raz M.; Aronson D.; Agmon Y.; Kapeliovich M.; Kerner A.; Grenadier E.; Hammerman H.; Nikolsky E.; Roguin A. (2009). "Incidence of early left ventricular thrombus after acute anterior wall myocardial infarction in the primary coronary intervention era". American Heart Journal. 157 (6): 1074–1080. doi:10.1016/j.ahj.2009.03.020.
16. ^ Robinson, Austin A.; Jain, Amit; Gentry, Mark; McNamara, Robert L. (2016-10-15). "Left ventricular thrombi after STEMI in the primary PCI era: A systematic review and meta-analysis". International Journal of Cardiology. 221: 554–559. doi:10.1016/j.ijcard.2016.07.069. ISSN 1874-1754. PMID 27424314.
17. ^ Zielinska M.; Kaczmarek K.; Tylkowski M. (2008). "Predictors of left ventricular thrombus formation in acute myocardial infarction treated with successful primary angioplasty with stenting". Am J Med Sci. 335: 171–176. doi:10.1097/maj.0b013e318142be20.
## External links[edit]
Classification
D
* ICD-10: Xxx.x
* ICD-9-CM: xxx
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Left ventricular thrombus
|
c0587044
| 26,082 |
wikipedia
|
https://en.wikipedia.org/wiki/Left_ventricular_thrombus
| 2021-01-18T18:30:34 |
{"umls": ["C0587044"], "wikidata": ["Q17149251"]}
|
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pigmented paravenous retinochoroidal atrophy
|
c1868310
| 26,083 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251295
| 2021-01-23T17:08:29 |
{"mesh": ["C566801"], "omim": ["172870"], "umls": ["C1868310"], "icd-10": ["H35.5"], "synonyms": ["PPRCA"]}
|
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.
Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay.
Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.
Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood.
Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood.
Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood.
Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.
## Frequency
Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide.
## Causes
Mutations in the ASAH1 gene cause Farber lipogranulomatosis. The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials. Acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells.
Mutations in the ASAH1 gene lead to severe reduction in acid ceramidase, typically to below 10 percent of normal. As a result, the enzyme cannot break down ceramides properly and they build up in the lysosomes of various cells, including in the lung, liver, colon, muscles used for movement (skeletal muscles), cartilage, and bone. The buildup of ceramides along with the reduction of its fatty breakdown products in cells likely causes the signs and symptoms of Farber lipogranulomatosis. It is unclear whether the level of acid ceramidase activity is related to the severity of the disorder.
### Learn more about the gene associated with Farber lipogranulomatosis
* ASAH1
## 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
|
Farber lipogranulomatosis
|
c0268255
| 26,084 |
medlineplus
|
https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/
| 2021-01-27T08:24:56 |
{"gard": ["6426"], "mesh": ["D055577"], "omim": ["228000"], "synonyms": []}
|
Hypoactivity is an inhibition of behavioral or locomotor activity.
Hypoactivity is a characteristic effect of sedative agents and many centrally acting anesthetics. Other drugs such as antipsychotics and mCPP also produce this effect, often as a side effect.
It may be a characteristic symptom of the inattentive type of ADHD (ADHD-PI) and sluggish cognitive tempo.
## See also[edit]
* Hyperactivity
## References[edit]
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: "Hypoactivity" – news · newspapers · books · scholar · JSTOR (March 2010) (Learn how and when to remove this template message)
* v
* t
* e
Psychology
* History
* Philosophy
* Portal
* Psychologist
Basic
psychology
* Abnormal
* Affective science
* Affective neuroscience
* Behavioral genetics
* Behavioral neuroscience
* Behaviorism
* Cognitive/Cognitivism
* Cognitive neuroscience
* Social
* Comparative
* Cross-cultural
* Cultural
* Developmental
* Differential
* Ecological
* Evolutionary
* Experimental
* Gestalt
* Intelligence
* Mathematical
* Moral
* Neuropsychology
* Perception
* Personality
* Positive
* Psycholinguistics
* Psychophysiology
* Quantitative
* Social
* Theoretical
Applied
psychology
* Anomalistic
* Applied behavior analysis
* Assessment
* Clinical
* Coaching
* Community
* Consumer
* Counseling
* Critical
* Educational
* Ergonomics
* Feminist
* Forensic
* Health
* Industrial and organizational
* Legal
* Media
* Medical
* Military
* Music
* Occupational health
* Pastoral
* Political
* Psychometrics
* Psychotherapy
* Religion
* School
* Sport and exercise
* Suicidology
* Systems
* Traffic
Methodologies
* Animal testing
* Archival research
* Behavior epigenetics
* Case study
* Content analysis
* Experiments
* Human subject research
* Interviews
* Neuroimaging
* Observation
* Psychophysics
* Qualitative research
* Quantitative research
* Self-report inventory
* Statistical surveys
Psychologists
* Wilhelm Wundt (1832–1920)
* William James (1842–1910)
* Ivan Pavlov (1849–1936)
* Sigmund Freud (1856–1939)
* Edward Thorndike (1874–1949)
* Carl Jung (1875–1961)
* John B. Watson (1878–1958)
* Clark L. Hull (1884–1952)
* Kurt Lewin (1890–1947)
* Jean Piaget (1896–1980)
* Gordon Allport (1897–1967)
* J. P. Guilford (1897–1987)
* Carl Rogers (1902–1987)
* Erik Erikson (1902–1994)
* B. F. Skinner (1904–1990)
* Donald O. Hebb (1904–1985)
* Ernest Hilgard (1904–2001)
* Harry Harlow (1905–1981)
* Raymond Cattell (1905–1998)
* Abraham Maslow (1908–1970)
* Neal E. Miller (1909–2002)
* Jerome Bruner (1915–2016)
* Donald T. Campbell (1916–1996)
* Hans Eysenck (1916–1997)
* Herbert A. Simon (1916–2001)
* David McClelland (1917–1998)
* Leon Festinger (1919–1989)
* George A. Miller (1920–2012)
* Richard Lazarus (1922–2002)
* Stanley Schachter (1922–1997)
* Robert Zajonc (1923–2008)
* Albert Bandura (b. 1925)
* Roger Brown (1925–1997)
* Endel Tulving (b. 1927)
* Lawrence Kohlberg (1927–1987)
* Noam Chomsky (b. 1928)
* Ulric Neisser (1928–2012)
* Jerome Kagan (b. 1929)
* Walter Mischel (1930–2018)
* Elliot Aronson (b. 1932)
* Daniel Kahneman (b. 1934)
* Paul Ekman (b. 1934)
* Michael Posner (b. 1936)
* Amos Tversky (1937–1996)
* Bruce McEwen (b. 1938)
* Larry Squire (b. 1941)
* Richard E. Nisbett (b. 1941)
* Martin Seligman (b. 1942)
* Ed Diener (b. 1946)
* Shelley E. Taylor (b. 1946)
* John Anderson (b. 1947)
* Ronald C. Kessler (b. 1947)
* Joseph E. LeDoux (b. 1949)
* Richard Davidson (b. 1951)
* Susan Fiske (b. 1952)
* Roy Baumeister (b. 1953)
Lists
* Counseling topics
* Disciplines
* Important publications
* Organizations
* Outline
* Psychologists
* Psychotherapies
* Research methods
* Schools of thought
* Timeline
* Topics
* Wiktionary definition
* Wiktionary category
* Wikisource
* Wikimedia Commons
* Wikiquote
* Wikinews
* Wikibooks
* v
* t
* e
Pharmacology
Ligand (biochemistry)
Excitatory
* Agonist
* Endogenous agonist
* Irreversible agonist
* Partial agonist
* Superagonist
* Physiological agonist
Inhibitory
* Antagonist
* Competitive antagonist
* Irreversible antagonist
* Physiological antagonist
* Inverse agonist
* Enzyme inhibitor
* Drug
* Neurotransmitter
* Agonist-antagonist
* Pharmacophore
Pharmacodynamics
Activity at receptor
* Mechanism of action
* Mode of action
* Binding
* Receptor (biochemistry)
* Desensitization (pharmacology)
Other effects of ligand
* Selectivity (Binding, Functional)
* Pleiotropy (drugs)
* Non-specific effect of vaccines
* Adverse effects
* Toxicity (Neurotoxicity)
Analysis
* Dose–response relationship
* Hill equation (biochemistry)
* Schild plot
* Del Castillo Katz model
* Cheng-Prussoff Equation
* Methods (Organ bath, Ligand binding assay, Patch-clamp)
Metrics
* Efficacy
* Intrinsic activity
* Potency (EC50, IC50, ED50, LD50, TD50)
* Therapeutic index
* Affinity
Pharmacokinetics
Metrics
* Loading dose
* Volume of distribution (Initial)
* Rate of infusion
* Onset of action
* Biological half-life
* Plasma protein binding
* Bioavailability
LADME
* (L)ADME: (Liberation)
* Absorption
* Distribution
* Metabolism
* Excretion (Clearance)
* Compartment
* Bioequivalence
Related
fields
Neuroscience and psychology
* Neuropsychopharmacology
* Neuropharmacology
* Psychopharmacology
* Electrophysiology
Medicine
* Clinical pharmacology
* Pharmacy
* Medicinal chemistry
* Pharmacoepidemiology
Biochemistry and genetics
* Pharmacoinformatics
* Pharmacogenetics
* Pharmacogenomics
Toxicology
* Pharmacotoxicology
* Neurotoxicology
Drug discovery
* Classical pharmacology
* Reverse pharmacology
* Photopharmacology
* Immunopharmacology
* Cell biology
* Physiology
Other
* Coinduction (anaesthetics)
* Combination therapy
* Functional analog (chemistry)
* Polypharmacology
* Chemotherapy
* List of drugs
* WHO list of essential medicines
Tolerance and resistance
* Drug tolerance
* Tachyphylaxis
* Drug resistance
* Antibiotic resistance
* Multiple drug resistance
Antimicrobial pharmacology
* Antimicrobial pharmacodynamics
* Minimum inhibitory concentration
* Bacteriostatic
* Minimum bactericidal concentration
* Bactericide
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypoactivity
|
c0086439
| 26,085 |
wikipedia
|
https://en.wikipedia.org/wiki/Hypoactivity
| 2021-01-18T18:41:10 |
{"mesh": ["D018476"], "wikidata": ["Q5959131"]}
|
Poliomyelitis is a viral disease that can affect nerves and can lead to partial or full paralysis. It is caused by infection with the poliovirus which can be spread by direct person-to-person contact, by contact with infected mucus or phlegm from the nose or mouth, or by contact with infected feces. There are three basic patterns of polio infection: subclinical infections, nonparalytic, and paralytic. Symptoms vary based on the pattern of infection and can range from asymptomatic with subclinical poliomyelitis to partial or full paralysis. Treatment is aimed at controlling symptoms while the infection runs its course. Since the development of the polio vaccine, the incidence of the disease has been greatly reduced. The prognosis depends on the form of the disease (subclinical, nonparalytic, or paralytic) and the site affected.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Poliomyelitis
|
c0032371
| 26,086 |
gard
|
https://rarediseases.info.nih.gov/diseases/7413/poliomyelitis
| 2021-01-18T17:58:17 |
{"mesh": ["D011051"], "orphanet": ["2912"], "synonyms": ["Polio", "Infantile paralysis"]}
|
For other uses, see Ptosis (disambiguation).
Nephroptosis
Other namesFloating kidney or Renal ptosis
SpecialtyUrology, nephrology
Symptomsasymptomatic in most; may have violent attacks of colicky flank pain, nausea, chills, hypertension, hematuria and proteinuria
Nephroptosis, is an abnormal condition in which the kidney drops down into the pelvis when the patient stands up. It is more common in women than in men. It has been one of the most controversial conditions in terms of both its diagnosis and its treatments.[1]
## Contents
* 1 Symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 Further reading
* 7 External links
## Symptoms[edit]
Nephroptosis is asymptomatic in most persons. However, nephroptosis can be characterized by violent attacks of colicky flank pain, nausea, chills, hypertension, hematuria and proteinuria. Persons with symptomatic nephroptosis often complain of sharp pains that radiate into the groin. Many persons also suggest a weighing feeling on the abdomen. Pain is typically relieved by lying down. It is believed that flank pain on standing that is relieved by lying down is due to movement of the kidney causing intermittent renal tract obstruction. The attack of colic pain is called 'Dietl's crisis' or 'renal paroxysm'.
## Cause[edit]
It is believed to result from deficiency of supporting inferior pararenal fasciae.
## Diagnosis[edit]
Diagnosis is contemplated based upon patient symptoms. Diagnosis is confirmed during intravenous urography, by obtaining erect and supine films. The renal DMSA scan may show decreased counts in the sitting position compared with supine scan.
## Treatment[edit]
Nephropexy was performed in the past to stabilize the kidney, but presently surgery is not recommended in asymptomatic patients. Laparoscopic nephropexy has recently become available for selected symptomatic patients.
## References[edit]
1. ^ Moss SW (1997). "Floating kidneys: a century of nephroptosis and nephropexy". J. Urol. 158 (3 Pt 1): 699–702. doi:10.1016/S0022-5347(01)64296-4. PMID 9258063.
## Further reading[edit]
* Barber N, Thompson P (2004). "Nephroptosis and nephropexy--hung up on the past?". Eur Urol. 46 (4): 428–33. doi:10.1016/j.eururo.2004.03.023. PMID 15363554.
## External links[edit]
Classification
D
* ICD-10: N28.8
* ICD-10-CM: N28.83
* ICD-9-CM: 593.0
* v
* t
* e
Kidney disease
Glomerular disease
* See Template:Glomerular disease
Tubules
* Renal tubular acidosis
* proximal
* distal
* Acute tubular necrosis
* Genetic
* Fanconi syndrome
* Bartter syndrome
* Gitelman syndrome
* Liddle's syndrome
Interstitium
* Interstitial nephritis
* Pyelonephritis
* Balkan endemic nephropathy
Vascular
* Renal artery stenosis
* Renal ischemia
* Hypertensive nephropathy
* Renovascular hypertension
* Renal cortical necrosis
General syndromes
* Nephritis
* Nephrosis
* Renal failure
* Acute renal failure
* Chronic kidney disease
* Uremia
Other
* Analgesic nephropathy
* Renal osteodystrophy
* Nephroptosis
* Abderhalden–Kaufmann–Lignac syndrome
* Diabetes insipidus
* Nephrogenic
* Renal papilla
* Renal papillary necrosis
* Major calyx/pelvis
* Hydronephrosis
* Pyonephrosis
* Reflux nephropathy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Nephroptosis
|
c1384594
| 26,087 |
wikipedia
|
https://en.wikipedia.org/wiki/Nephroptosis
| 2021-01-18T18:45:07 |
{"umls": ["C1384594"], "icd-9": ["593.0"], "icd-10": ["N28.8"], "wikidata": ["Q1572538"]}
|
Stiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Spasms can generate enough force to fracture bone. People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms. Persistent symptoms can lead to abnormal posturing of the spine, such as being hunched over. The syndrome affects twice as many women as men.
SPS is caused by increased muscle activity due to decreased inhibition of the central nervous system. It is thought to have an autoimmune component and is often associated with diabetes, as well as other autoimmune diseases such as thyroiditis, vitiligo, and pernicious anemia. It may be diagnosed after having various tests including blood tests (such as for glutamic acid decarboxylase (GAD) antibodies which is elevated in about 2 in 3 people with SPS), a lumbar puncture, and electromyography. Treatment aims to control symptoms and improve mobility. Examples of treatments that have been used for SPS, include benzodiazepines, muscle relaxants, intravenous immune globulin (IVIG) therapy, plasmapheresis (also called plasma exchange), and rituximab. While some people with SPS may maintain reasonable levels of activity with treatment, the majority become disabled over time.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Stiff person syndrome
|
c0085292
| 26,088 |
gard
|
https://rarediseases.info.nih.gov/diseases/5023/stiff-person-syndrome
| 2021-01-18T17:57:30 |
{"mesh": ["D016750"], "omim": ["184850"], "orphanet": ["3198"], "synonyms": ["Stiff man syndrome", "Morsch Woltman syndrome", "SPS", "Moersch-Woltman syndrome", "SMS", "Stiff person syndrome and related disorders"]}
|
A number sign (#) is used with this entry because of evidence that familial adult myoclonic epilepsy-5 (FAME5) is caused by homozygous mutation in the CNTN2 gene (190197) on chromosome 1q32. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Description
Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013).
Clinical Features
Stogmann et al. (2013) reported a consanguineous Egyptian family in which 5 sibs, aged 11 to 14 years, had onset of seizures in adolescence. Seizure types included both complex partial seizures and generalized seizures, often with an olfactory, auditory, or visual aura suggesting a temporal lobe origin. EEG studies showed temporal epileptiform discharges, and brain MRI was normal in all but 1 patient, who had bilateral mesial temporal sclerosis. Seizures were well-controlled by medication in 4 patients. All 5 patients later developed cortical myoclonic tremor, with head nodding and twitching of the hands and fingers. EMG showed synchronous bursting of agonist and antagonist muscles with a frequency of 10 to 14 Hz and burst duration less than 50 ms, consistent with a cortical origin of myoclonus. Two patients had depressive symptoms and borderline intelligence, whereas 2 had average neuropsychologic test results.
Inheritance
The transmission pattern of FAME5 in the family reported by Stogmann et al. (2013) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of a consanguineous Egyptian family with cortical myoclonic epilepsy and tremor, Stogmann et al. (2013) found linkage to a 12.7-Mb interval on chromosome 1q31.3-q32.2 between SNPs rs927510 and rs724054 (lod score of 3.6).
Molecular Genetics
In affected members of an Egyptian family with FAME5, Stogmann et al. (2013) identified a homozygous frameshift mutation in the CNTN2 gene (190197.0001). The mutation, which was found by exome sequencing, segregated with the disorder in the family and was not found in multiple controls. Sequencing of the CNTN2 gene in 189 patients with various epilepsy syndromes did not identify any pathogenic mutations.
Nomenclature
Striano et al. (2013) objected to the classification of this disorder as 'familial cortical myoclonic tremor with epilepsy (FCMTE)' because FCMTE is usually transmitted in an autosomal dominant manner and because the patients in the Egyptian family reported by Stogmann et al. (2013) did not undergo electrophysiologic studies showing cortical reflex myoclonus. Striano et al. (2013) suggested that the patients in the Egyptian family had a form of focal epilepsy of temporal lobe origin, and that the tremor observed was a result of antiepileptic therapy. In a reply, Stogmann et al. (2013) noted that the features in their patients conform to the core criteria of FCMTE, but acknowledged that some unusual features were present.
INHERITANCE \- Autosomal recessive NEUROLOGIC Central Nervous System \- Seizures, myoclonic \- Seizures, focal \- Generalized tonic-clonic seizures (GTCS) \- Auditory, olfactory, and visual auras \- Cortical myoclonic tremors characterized by 8 to 10-Hz discharges \- Temporal epileptiform discharges seen on EEG \- Head nodding \- Borderline intelligence \- Mesial temporal sclerosis (in 1 patient) Behavioral Psychiatric Manifestations \- Depressive symptoms MISCELLANEOUS \- One family has been reported (last curated September 2013) \- Onset in the second decade \- Tremors develop after seizures \- Good seizure control with medication MOLECULAR BASIS \- Caused by mutation in the contactin 2 gene (CNTN2, 190197.0001 ) ▲ 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
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
|
c3809374
| 26,089 |
omim
|
https://www.omim.org/entry/615400
| 2019-09-22T15:52:24 |
{"omim": ["615400", "601068"], "orphanet": ["86814"], "synonyms": ["ADCME", "CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5", "Familial adult myoclonic epilepsy", "Autosomal dominant cortical myoclonus and epilepsy", "FAME", "Benign adult familial myoclonus epilepsy", "FCMTE", "Alternative titles", "Familial cortical myoclonic tremor and epilepsy", "BAFME"]}
|
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Nevus of Ito
|
c0022283
| 26,090 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263432
| 2021-01-23T17:57:25 |
{"gard": ["10830"], "mesh": ["D010859"], "umls": ["C0022283"], "icd-10": ["D22.6"], "synonyms": ["Nevus fuscocaeruleus acromiodeltoideus"]}
|
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spinocerebellar ataxia type 40
|
c4518336
| 26,091 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423275
| 2021-01-23T17:28:39 |
{"gard": ["12371"], "omim": ["616053"], "icd-10": ["G11.8"], "synonyms": ["SCA40"]}
|
Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
## Epidemiology
It has been described in four generations of a 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
|
Brachydactyly-nystagmus-cerebellar ataxia syndrome
|
c1862099
| 26,092 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1246
| 2021-01-23T18:53:49 |
{"gard": ["971"], "mesh": ["C566192"], "omim": ["113400"], "umls": ["C1862099"], "icd-10": ["Q87.8"], "synonyms": ["Biemond syndrome"]}
|
XXXX syndrome
Other names48,XXXY syndrome [1]
XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes.[1] Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility.[2][3] This syndrome is usually inherited via a new mutation in one of the parents’ gametes, as those affected by it are usually infertile. It is estimated that XXXY affects one in every 50,000 male births.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Reproductive
* 1.2 Physical
* 1.3 Cognitive and developmental
* 2 Cause
* 2.1 Mechanism
* 3 Diagnosis
* 4 Management
* 4.1 Treatment
* 4.2 Quality of life
* 4.3 Genetic counselling
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
The symptoms of 48,XXXY syndrome are similar to those of Klinefelter syndrome, though the symptoms are usually more severe in 48,XXXY syndrome. Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. When comparing 47,XXY and 48,XXXY, there is a greater risk for congenetial malformations and more medical problems in those with 48,XXXY.[3]
### Reproductive[edit]
Those with XXXY syndrome can have testicular dysgenesis and hypergonadotrophic hypogonadism.[3] Testicular dygenesis is a condition in which a male has incomplete or complete loss of spermatogenesis, so that the individual produces very low levels, or no sperm.[4] This results in infertility of that individual.[4] Hypergonadotrophic hypogonadism is a condition in which the function of the testes in males is reduced and can result in low levels of sex steroids produced like testosterone.
### Physical[edit]
Males with 48,XXXY can have average or tall stature, which becomes more prominent in adulthood. Facial dysmorphism is common in males with 48,XXXY and can include increased distance between the eyes (hypertelorism), skin folds of the upper eyelid (epicanthal folds), up-slanting opening between the eyelids (palpebral fissures) and hooded eyelids. Other physical features include the fifth finger or "pinkie" to be bent inwards towards the fourth finger (clinodactyly), short nail beds, flat feet, double jointedness (hyperextensibility) and prominent elbows with cubitus varus where the arm rests closer to the body. Musculoskeletal features may include congentical elbow dislocation and the limited ability of the feet to roll inwards while walking and upon landing.[3] Micropenis is another common symptom of this syndrome.[5]
Individuals affected with XXXY are also prone to developing Taurodontism, which often presents early in life, and can be an early indicator of XXY syndrome.[2] Those with this syndrome are also prone to hip dysplasia, and other joint abnormalities.[6] An individual’s symptoms vary due to differing androgen deficiencies, and also with alter with age. Prepubescent boys with XXXY syndrome may not differ in physical appearance from a child without the syndrome. This is likely because androgen levels do not differ among pre-pubescent boys, but a difference does arise as puberty progresses.[2] Those with XXXY syndrome may also experience feminine distribution of adipose tissue, and gynecomastia may also be present.[2] Tall stature is more likely to appear in adolescence, when androgen levels begin to differ between those with XXXY syndrome and those that do not have it.
### Cognitive and developmental[edit]
Neurological effects are believed to be more severe as the number of extra X chromosomes increases; a male with 48,XXXY is likely to have more severe symptoms than a male with Klinefelter syndrome.[5] Developmental delays are common in infancy and childhood. Expected symptoms include speech delays, motor delays, and hypotonia (lack of muscle tone), also known as floppy baby syndrome. Individuals with XXXY syndrome exhibit cognitive and behavioral problems.[2]
Patients typically show altered adaptive behavior, which is the ability of an individual to demonstrate essential living skills, including: social skills, community living, safety, functional use of academic skills and self-care. People with XXXY syndrome were found to score significantly less in the domains of daily living skills and communication compared to XXYY, and XXY individuals.[3] This means that they typically demonstrate little ability in the domains of self-care, social skills, safety, application of academic skills, and responsibility.[3]
Individuals with this syndrome also experience emotional symptoms such as anxiety symptoms, obsessive-compulsive behaviors, behavioral dysregulational and emotional immaturity.[3] People with this syndrome typically have an IQ in the range of 40-60, where the average IQ range is 95-110.[5][7] They also experience language-based learning disabilities that can affect their communication with others.[4] Those with XXXY syndrome tend to display less externalizing and internalizing behaviors compared to those with 48,XXYY syndrome, which may have a positive effect on their social functioning.[8] These individuals may also have increased vulnerability for autistic features.[8] Changes in testosterone as well as androgen deficits may contribute to these individuals’ social behaviors that put them at increased risk for autistic features.[8]
## Cause[edit]
The cause of 48,XXXY can be from non-disjunction in the paternal sperm or non-disjunction in the maternal oocyte.[3] The most likely scenario for the existence of this aneuploidy is that each party (maternal and paternal) equally contributed to it, by the egg giving an XX and the sperm giving an XY.[3]
In the case where the sperm is the genetic cause of 48,XXXY syndrome, the sperm would have to contain two X chromosomes and one Y chromosome. This would be caused by two non-disjunction events in spermatogenesis, both meosis I and meiosis II. The duplicated X chromosome in the sperm would have to fail to separate in both meiosis I and meiosis II for a sperm as well as the X and Y chromosomes would have to be in the same sperm. Then the XXY sperm would fertilize a normal oocyte to make a XXXY zygote.[5]
In the case where the oocyte is the genetic cause of 48,XXXY syndrome the oocyte would contain three X chromosome. This would be caused by two non-disjunction events during oogenesis. In meiosis I both sets of duplicated X chromosomes would have to be not separated. Then in meiosis II one set of X chromosomes would have to not separate and the other set would separate resulting in one oocyte with three X chromosomes. A normal sperm containing a Y chromosome would have to fertilize the XXX oocyte to make a XXXY zygote.[5]
### Mechanism[edit]
The additional X chromosomes that are characteristic of this condition are associated with an androgen deficiency.[2] This causes reduced or absent feedback inhibition of the pituitary gland, by elevating the gonadotropin levels.[2]
## Diagnosis[edit]
Karyotype of 47,XXY. The only difference for 48,XXXY would be a third X chromosome.
Diagnosis of 48,XXXY is usually done by a standard karyotype.[3] A karyotype is a chromosomal analysis in which a full set of chromosomes can be seen for an individual. The presence of the additional 2 X chromosomes on the karyotype are indicative of XXXY syndrome.
Another way to diagnosis 48,XXXY is by chromosomal microarray showing the presence of extra X chromosomes.[3] Chromosomal microarray (CMA) is used to detect extra or missing chromosomal segments or whole chromosomes. CMA uses microchip-based testing to analyze many pieces of DNA. Males with 48,XXXY are diagnosed anywhere from before birth to adulthood as a result of the range in the severity of symptoms.[3] The age range at diagnosis is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY).[3]
Diagnostic testing could also be done via blood samples. Elevated levels of follicle stimulating hormone, luteinizing hormone, and low levels of testosterone can be indicative of this syndrome.[5]
## Management[edit]
### Treatment[edit]
Treatments exist for the various symptoms associated with XXXY syndrome. Testosterone therapy, which is giving affected individuals doses of testosterone on a regular basis, has been shown to reduce aggressive behavior in these patients.[3] But, this therapy has also been associated with negative side effects: worsening of behavior, and osteoporosis.[3] Not all individuals are applicable for testosterone therapy, as the best results are often achieved when dosage begins at the initiation of puberty, and these individuals are often diagnosed at a later age, or not at all.[3] Testosterone therapy has been shown to have no positive effect on fertility.[2]
Consideration of the psychological phenotype of individuals with XXXY should be taken into account when treating these patients, because these traits affect compliance with treatments.[3] When caught early, Taurodontism can be treated with a root canal and is often successful.[2] Appropriate planning to avoid Taurodontism is possible, but this syndrome must be diagnosed early, which is not common.[2] Taurodontism can often be detected as a symptom of XXXY syndrome before other characteristics develop, and can be an early indicator for it. Surgical treatments to correct joint problems, such as hip dysplasia are common, and are often successful alongside physiotherapy.[6]
Those with XXXY syndrome can also attend speech therapy.[5] This form of therapy helps patients to understand and produce more complex language.[5] Those with XXXY syndrome tend to experience more severe speech delays, so this form of treatment can be very beneficial to them, and can help them to communicate better with other people.[5]
Since hypotonia is common in those with this syndrome, physical therapy can also be helpful.[5] This form of therapy may help these individuals develop muscle tone, and increase balance and coordination.[5]
### Quality of life[edit]
In mild cases, individuals with XXXY syndrome may lead a relatively good life. These individuals may face difficulties in communicating with others due to their language-based deficits. These deficits may make forming bonds with others difficult, but fulfilling relationships with others are still achievable. Those with higher scores in adaptive functioning are likely to have higher quality of life because they can be independent.[3]
### Genetic counselling[edit]
As the syndrome is due to a chromosomal non-disjunction event, the recurrence risk is not high compared to the general population.[5] There has been no evidence found that indicates non-disjunction occurs more often in a particular family.[5]
## See also[edit]
* Klinefelter syndrome
* 48,XXXX
* 48,XXYY
* 49,XXXXY syndrome
* Caroline Cossey
## References[edit]
1. ^ "XXXY syndrome". The Genetic and Rare Diseases Information Center (GARD). NIH. 10 August 2016. Retrieved 19 March 2019.
2. ^ a b c d e f g h i j Joseph, Michael (2008-05-01). "Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: a review and case report". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 105 (5): 670–677. doi:10.1016/j.tripleo.2007.11.015. PMID 18442747.
3. ^ a b c d e f g h i j k l m n o p q r s Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip (2011-06-01). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j.1651-2227.2011.02235.x. ISSN 1651-2227. PMC 3314712. PMID 21342258.
4. ^ a b c Skakkebæk, N.E.; Meyts, E. Rajpert-De; Main, K.M. (2001-05-01). "Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion". Human Reproduction. 16 (5): 972–978. doi:10.1093/humrep/16.5.972. ISSN 0268-1161. PMID 11331648.
5. ^ a b c d e f g h i j k l m Visootsak, Jeannie; Graham, John M. (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
6. ^ a b Simşek, P. O.; Utine, G. E.; Alikaşifoğlu, A.; Alanay, Y.; Boduroğlu, K.; Kandemir, N. (2009). "Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes". The Turkish Journal of Pediatrics. 51 (3): 294–297. ISSN 0041-4301. PMID 19817277.
7. ^ http://psycnet.apa.org/record/1985-19822-001
8. ^ a b c [citation needed]
## Further reading[edit]
* Ferrier, Pierre E. (1974-01-01). "The XXXY Klinefelter Syndrome in Childhood". Archives of Pediatrics & Adolescent Medicine. 127 (1): 104–5. doi:10.1001/archpedi.1974.02110200106016. ISSN 0002-922X. PMID 4809784.
## External links[edit]
Classification
D
* ICD-10: Q98.1
External resources
* Orphanet: 96263
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
XXXY syndrome
|
c0265498
| 26,093 |
wikipedia
|
https://en.wikipedia.org/wiki/XXXY_syndrome
| 2021-01-18T18:45:33 |
{"gard": ["5676"], "umls": ["C0265498"], "orphanet": ["96263"], "wikidata": ["Q8042637"]}
|
Sphenoid wing meningioma in magnetic resonance imaging (T1w contrast enhanced
Sphenoid wing meningioma in computed tomography which shows the reactive orbital hyperostosis
A sphenoid wing meningioma is a benign brain tumor near the sphenoid bone.
## Contents
* 1 Pathogenesis
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Prognosis
* 5 References
## Pathogenesis[edit]
A meningioma is a benign brain tumor. It originates from the arachnoid (not the dura), the tissue covering the brain and spinal cord lying deep to the dura. Meningiomas are much more common in females, and are more common after 50 years of age. Of all cranial meningiomas, about 20% of them are in the sphenoid wing. In some cases, deletions involving chromosome 22 are involved.
## Diagnosis[edit]
Sphenoid wing meningiomas are diagnosed by the combination of suggestive symptoms from the history and physical and neuroimaging by magnetic resonance imaging (MRI) or computer averaged tomography (CT). Tumors growing in the inner wing (clinoidal) most often cause direct damage to the optic nerve leading especially to a decrease in visual acuity, progressive loss of color vision, defects in the field of vision (especially cecocentral), and an afferent pupillary defect. If the tumor continues to grow and push on the optic nerve, all vision will be lost in that eye as the nerve atrophies. Proptosis, or anterior displacement of the eye, and palpebral swelling may also occur when the tumor impinges on the cavernous sinus by blocking venous return and leading to congestion. Damage to cranial nerves in the cavernous sinus leads to diplopia. Cranial nerve VI is often the first affected, leading to diplopia with lateral gaze. If cranial nerve V-1 is damaged, the patient will have pain and altered sensation over the front and top of the head. Horner's syndrome may occur if nearby sympathetic fibers are involved.
### Classification[edit]
Tumors found in the external third of the sphenoid are of two types: en-plaque and globoid meningiomas. En plaque meningiomas characteristically lead to slowly increasing proptosis with the eye angled downward. Much of this is due to reactive orbital hyperostosis. With invasion of the tumor into the orbit, diplopia is common. Patients with globoid meningiomas often present only with signs of increased intracranial pressure. This leads to various other symptoms including headache and a swollen optic disc. The differential diagnosis for sphenoid wing meningioma includes other types of tumors such as optic nerve sheath meningioma, cranial osteosarcoma, metastases, and also sarcoidosis. Following the physical exam, the diagnosis is confirmed with neuro-imaging. Either a head CT or MRI with contrast such as gadolinium is useful, as meningiomas often show homogenous enhancement. Angiography looking for signs like stretched arteries may be used to supplement evaluation of vascular involvement and to determine whether embolization would be helpful if surgery is being considered.
## Treatment[edit]
Meningiomas have been divided into three types based on their patterns of growth. Histological factors that increase the grade include a high number of mitotic figures, necrosis and local invasion. Treatment of sphenoid wing meningiomas often depends on the location and size of the tumor. Gamma knife radiation and microscopic surgery are common options. Their encapsulated, slow growth makes meningiomas good targets for radiosurgery. In one series, less than one-third of clinoidal meningiomas could be completely resected without unacceptable risk of damaging of blood vessels (especially the carotid artery) or cranial nerves, risks that are lower with radiosurgery. If surgery is done and the entire tumor cannot be removed, then external beam radiation helps reduce recurrence of the growth. In fact, surgery followed by radiation at recurrence provided excellent tumor control in cases where gross-total resection cannot be achieved.[1] Most all meningiomas grow very slowly and almost never metastasize to other parts of the body. In part because of its slow growth, if a tumor is asymptomatic and found only by imaging, the best course is often observation with serial clinical exams and imaging. Possible indications for intervention would be a rapid increase in growth or involvement of cranial nerves. Untreated, one small series showed survival rates ranging from five to over twenty years, though most suffered unilateral blindness as well as paresis of extraocular movements.
## Prognosis[edit]
Higher grade tumors have been shown to correspond with higher recurrences. Depending on the grade and extent of resection, from less than 1 in 10 to over two-thirds of tumors will recur after surgical excision. Follow-up clinical exams, as well as neuroimaging, can aid in detecting recurrences. As many meningiomas have receptors for progesterone, progesterone blockers are being investigated. Two other drugs that are being studied for use are hydroxyurea and interferon alpha-2b.
## References[edit]
1. ^ Freeman, Jacob L.; Davern, Monica S.; Oushy, Soliman; Sillau, Stefan; Ormond, D. Ryan; Youssef, A. Samy; Lillehei, Kevin O. (March 2017). "Spheno-Orbital Meningiomas: A 16-Year Surgical Experience". World Neurosurgery. 99: 369–380. doi:10.1016/j.wneu.2016.12.063. ISSN 1878-8769. PMID 28017748.
* Al-Mefty, O, ed. Meningiomas. New York: Raven Press, 1991.
* Bonnal J, A Thibaut, J Brotchi, and J Born. Invading Meningiomas of the Sphenoid Ridge. Journal of Neurosurgery. 53(5):587-99, Nov 1980.
* Kearns, T and H Wagener. Ophthalmologic Diagnosis of Meningiomas of the Sphenoidal Ridge. American Journal of the Medical Sciences, 226(2):221-8, Aug 1953.
* Khoromi, S and S. Zachariah. Meningioma, Sphenoid Wing. Emedicine, available online: http://www.emedicine.com/oph/topic670.htm, April 5, 2006.
* Kleinpeter G and F Bock. Invasion of the Cavernous Sinus by Medial Sphenoid Meningioma--"Radical" Surgery and Recurrence. Acta Neurochirurgica. 103(3-4):87-91, 1990.
* Miller, N, V Biousse, N Newman, and J. Kerrison, eds. Walsh and Hoyt’s Clinical Neuro-Ophthalmology, 6th ed, vol. 2. Philadelphia: Lippincott Williams & Wilkins, 2005.
* Newman, S. Meningiomas: A Quest for the Optimum Therapy. Journal of Neurosurgery. 80(2):191-4, Feb 1994.
* Park, J and P Black. Biology and Clinical Features of Meningioma. UpToDate, online, April 7, 2006.
* Park, J and P Black. Treatment of meningioma. UpToDate, online, April 7, 2006.
* Schmidek, H. Meningiomas and Their Surgical Management. Philadelphia: W.B. Saunders Company, 1991.
* Thomas, D, ed. Stereotactic and Image Directed Surgery of Brain Tumors. New York: Churchill Livingstone, 1993.
* Villavicencio A, P Black, D Shrieve, M Fallon, E Alexander and J Loeffler. Linac Radiosurgery for Skull Base Meningiomas. Acta Neurochirurgica. 143(11):1141-52, Nov 2001.
* Wilson, WB. Meningiomas of the Anterior Visual System. Survey of Ophthalmology. 26(3):109-27, Nov-Dec 1981.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Sphenoid wing meningioma
|
c1565951
| 26,094 |
wikipedia
|
https://en.wikipedia.org/wiki/Sphenoid_wing_meningioma
| 2021-01-18T18:28:36 |
{"mesh": ["D008579"], "wikidata": ["Q7576644"]}
|
Polysyndactyly
SpecialtyMedical genetics
Polysyndactyly is an hereditary anatomical malformation combining polydactyly and syndactyly.[1] There is also a type called crossed polysyndactyly.[2]
## References[edit]
1. ^ "Polysyndactyly".
2. ^ "OMIM Entry - % 175690 - POLYSYNDACTYLY, CROSSED". omim.org. Retrieved 20 August 2017.
## External links[edit]
* Polysyndactyly and Marfan's syndrome The case of an Egyptian Jewish family with 17 affected members. The mother also had Marfan's syndrome, which she passed on to a daughter who did not have polysyndactyly.
Classification
D
* OMIM: 175690
External resources
* Orphanet: 93338
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Polysyndactyly
|
c0265553
| 26,095 |
wikipedia
|
https://en.wikipedia.org/wiki/Polysyndactyly
| 2021-01-18T18:29:16 |
{"mesh": ["D013576"], "umls": ["C0265553"], "icd-10": ["Q70.4"], "orphanet": ["93338"], "wikidata": ["Q1595685"]}
|
Retroperitoneal fibrosis
SpecialtyUrology
Retroperitoneal fibrosis or Ormond's disease is a disease featuring the proliferation of fibrous tissue in the retroperitoneum, the compartment of the body containing the kidneys, aorta, renal tract, and various other structures. It may present with lower back pain, kidney failure, hypertension, deep vein thrombosis, and other obstructive symptoms. It is named after John Kelso Ormond, who rediscovered the condition in 1948.[1][2][3]
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Causes[edit]
Its association with various immune-related conditions and response to immunosuppression have led to speculation regarding an autoimmune cause of idiopathic RPF.[4][5] One-third of the cases are secondary to malignancy, medication (methysergide, hydralazine, beta blockers), aortic aneurysm, or certain infections.
## Diagnosis[edit]
The diagnosis of retroperitoneal fibrosis cannot be made on the basis of the results of laboratory studies. CT is the best diagnostic modality:[6] a confluent mass surrounding the aorta[5] and common iliac arteries can be seen. On MRI, it has low T1 signal intensity and variable T2 signal. Malignant retroperitoneal fibrosis usually give uneven MRI signals, bulky, extend above the origins of renal arteries, or displace aorta anteriorly. Besides, malignant retroperitoneal fibrosis less frequently displaces ureter medially when compared to other retroperitoneal fibrosis.[7]
On fludeoxyglucose (18F) (FDG) positron emission tomography (PET) scan, it will show accumulation of FDG in the affected area.[7]
Although biopsy is not usually recommended, it is appropriate when malignancy or infection is suspected. Biopsy should also be done if the location of fibrosis is atypical or if there is an inadequate response to initial treatment.[5]
## Treatment[edit]
In the absence of severe urinary tract obstruction (which generally requires surgery with omental wrapping), treatment is generally with glucocorticoids initially, followed by DMARDs either as steroid-sparing agents or if refractory on steroids.[8] The SERM tamoxifen has shown to improve the condition in various small trials, although the exact mechanism of its action remains unclear. Associations include:
* Riedel's thyroiditis
* previous radiotherapy
* sarcoidosis
* inflammatory abdominal aortic aneurysm
* drugs
## References[edit]
1. ^ Albarran-Ormond syndrome at Who Named It?
2. ^ Ormond JK (1948). "Bilateral ureteral obstruction due to envelopment and compression by an inflammatory retroperitoneal process". J. Urol. 59 (6): 1072–9. doi:10.1016/s0022-5347(17)69482-5. PMID 18858051.
3. ^ Ormond JK (October 1965). "Idiopathic retroperitoneal fibrosis: a discussion of the etiology". J. Urol. 94 (4): 385–90. doi:10.1016/s0022-5347(17)63635-8. PMID 5839568.
4. ^ Thongprayoon, C; Spanuchart I; Cheungpasitporn W; Kangwanpornsiri A (May 2014). "Idiopathic retroperitoneal fibrosis: a challenging case in a rare disease". N Am J Med Sci. 6 (5): 237–8. doi:10.4103/1947-2714.132945. PMC 4049060. PMID 24926452.
5. ^ a b c Vaglio A, Salvarani C, Buzio C (January 2006). "Retroperitoneal fibrosis". Lancet. 367 (9506): 241–51. doi:10.1016/S0140-6736(06)68035-5. PMID 16427494.
6. ^ Avaria P, Hirsch M.Forniceal rupture and urinoma secondary to retroperitoneal fibrosis: A clinical case and literature review. https://doi.org/10.1016/j.uromx.2015.10.001
7. ^ a b Vaglio, Augusto; Maritati, Federica (July 2016). "Idiopathic Retroperitoneal Fibrosis". Journal of the American Society of Nephrology. 27 (7): 1880–1889. doi:10.1681/ASN.2015101110. ISSN 1046-6673. PMC 4926988. PMID 26860343.
8. ^ van Bommel EF (July 2002). "Retroperitoneal fibrosis". Neth J Med. 60 (6): 231–42. PMID 12365466.
## External links[edit]
Classification
D
* ICD-10: K66.2
* ICD-9-CM: 593.4
* MeSH: D012185
* DiseasesDB: 11445
External resources
* MedlinePlus: 000463
* eMedicine: radio/605 med/3664
* v
* t
* e
Diseases of the urinary tract
Ureter
* Ureteritis
* Ureterocele
* Megaureter
Bladder
* Cystitis
* Interstitial cystitis
* Hunner's ulcer
* Trigonitis
* Hemorrhagic cystitis
* Neurogenic bladder dysfunction
* Bladder sphincter dyssynergia
* Vesicointestinal fistula
* Vesicoureteral reflux
Urethra
* Urethritis
* Non-gonococcal urethritis
* Urethral syndrome
* Urethral stricture
* Meatal stenosis
* Urethral caruncle
Any/all
* Obstructive uropathy
* Urinary tract infection
* Retroperitoneal fibrosis
* Urolithiasis
* Bladder stone
* Kidney stone
* Renal colic
* Malakoplakia
* Urinary incontinence
* Stress
* Urge
* Overflow
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Retroperitoneal fibrosis
|
c0035357
| 26,096 |
wikipedia
|
https://en.wikipedia.org/wiki/Retroperitoneal_fibrosis
| 2021-01-18T18:57:27 |
{"mesh": ["D012185"], "umls": ["C0035357"], "icd-9": ["593.4"], "icd-10": ["K66.2"], "orphanet": ["49041"], "wikidata": ["Q1600050"]}
|
## Summary
### Clinical characteristics.
Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood.
### Diagnosis/testing.
Because the phenotype of OCA4 overlaps that of the other genetic forms of albinism (oculocutaneous and ocular), the diagnosis of OCA4 is established by molecular genetic testing with the identification of biallelic pathogenic variants in SLC45A2. A multigene panel or comprehensive genomic testing is the preferred molecular genetic testing method for this disorder.
### Management.
Treatment of manifestations: Correction of refractive errors with spectacles or contact lenses to improve visual acuity. Strabismus surgery may be considered for cosmetic reasons. Dark glasses may alleviate photophobia but may reduce vision; a hat with a brim or visor best achieves reduction in photophobia. Protection from the sun, through the wearing of protective clothing and the regular application of sunscreen, is essential.
Prevention of secondary complications: Individuals with OCA4 should stay out of the sun from an early age, because cumulative ultraviolet exposure is a major risk factor for skin cancers.
Surveillance: Annual ophthalmologic examination and reassessment for accurate correction of refractive error. Evaluation of the skin for cancer screening every six months is recommended.
Agents/circumstances to avoid: Prolonged exposure to sun.
### Genetic counseling.
OCA4 is typically inherited in an autosomal recessive manner. The parents of a proband are obligate heterozygotes and thus carriers of one SLC45A2 pathogenic variant. Heterozygotes (carriers) are asymptomatic and not at risk of developing the disorder, but may be light in pigmentation for their ethnic group. 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 testing for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
## Diagnosis
### Suggestive Findings
Oculocutaneous albinism type 4 (OCA4) should be suspected in individuals with the following clinical features:
* Hypopigmentation of the skin and hair varying from complete depigmentation to partial depigmentation with brown hair. In some individuals pigmentation increases during the first decade of life [Suzuki & Tomita 2008].
* Characteristic ocular changes found in all types of albinism, including the following findings detected on routine ophthalmologic examination:
* Nystagmus
* Reduced iris pigment with iris translucency
* Reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination
* Foveal hypoplasia associated with reduction in visual acuity
* Vision abnormalities (due to misrouting of the optic nerves at the chiasm) including:
* Alternating strabismus
* Reduced stereoscopic vision
* Altered visual evoked potential (VEP)
Note: (1) A VEP is not necessary for the routine diagnosis of albinism; misrouting is implied by the finding of strabismus and reduced stereoscopic vision. (2) In some individuals, particularly those who have moderate amounts of cutaneous and retinal pigment, or those who have foveal hypoplasia and no obvious nystagmus, a VEP may be necessary to demonstrate misrouting of the optic nerves. (3) The VEP is performed with a technique specifically developed for demonstration of the misrouting and a regular VEP will not demonstrate this. (4) Normal routing of the optic nerves, demonstrated with a VEP, indicates that the diagnosis is not albinism/OCA.
### Establishing the Diagnosis
The diagnosis of OCA4 is established in a proband with characteristic clinical findings and/or by identification of biallelic pathogenic variants in SLC45A2 on molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include the use of a multigene panel or comprehensive genomic testing.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of OCA4 overlaps that of the other genetic forms of albinism (oculocutaneous and ocular), a multigene panel or comprehensive genomic testing (when available) is the preferred molecular genetic testing method for this disorder. Single-gene testing (sequence analysis of SLC45A2, followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended.
* A multigene panel that includes SLC45A2 and other genes of interest associated with albinism (see Differential Diagnosis) may be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* Comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
For this disorder a multigene panel that also includes deletion/duplication analysis or exome array is recommended if no or only one pathogenic variant is identified.
### Table 1.
Molecular Genetic Testing Used in OCA4
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
SLC45A2Sequence analysis 375%-85% 4
Gene-targeted deletion/duplication analysis 5Rare 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants.
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\.
Inagaki et al [2004], Sengupta et al [2007], Hutton & Spritz [2008], Wei et al [2011], Mauri 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\.
Rooryck et al [2008] identified deletion of exon 4 in SLC45A2 in an individual who was described as having a severe phenotype at birth which became milder with age.
Note: Oki et al [2017] reported a multigenerational family in which OCA4 appeared to be inherited as an autosomal dominant condition associated with a heterozygous pathogenic variant in SLC45A2. The authors of this GeneReview feel that this may represent a rare occurrence, but note that no functional assay for the specific variant was performed and that concomitant heterozygous pathogenic variant(s) in a regulatory region or in other (unknown) OCA-related genes cannot be ruled out.
## Clinical Characteristics
### Clinical Description
A wide range of clinical phenotypes has been recognized to date [Suzuki & Tomita 2008]. The amount of cutaneous pigmentation in OCA4 is a continuum from minimal to near normal [Newton et al 2001, Inagaki et al 2004, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005]. The amount of iris and retinal pigment varies and visual acuity covers a wide range; however, no subtypes of OCA4 are recognized.
Individuals with albinism (including OCA4) are usually recognized within the first year of life because of the ocular features of nystagmus and strabismus. In many families, particularly in those with darker constitutional pigmentation, the cutaneous hypopigmentation is also obvious at birth and suggests the diagnosis.
#### Eye
Nystagmus. Some children with albinism have nystagmus that is noticed by the parents and the examining physician in the delivery room. Many children with albinism do not have nystagmus at birth and the parents note slow wandering eye movements and a lack of visual attention. The parents may become concerned because the child does not seem to "focus well," but the absence of nystagmus may delay the diagnosis. Most children with albinism develop nystagmus by age three to four months, and the diagnosis is often considered at the four-to-six month well-baby check-up. The nystagmus can be rapid early in life and generally slows with time; however, nearly all individuals with albinism have nystagmus throughout their lives. Nystagmus is more noticeable when individuals are tired, angry, or anxious, and less marked when they are well rested and feeling well [Summers 2009].
Iris color ranges from blue to brown. In one individual with OCA4, who had been misdiagnosed at birth as having OCA1 because of complete iris transillumination, the amount of iris pigment increased in the first ten years, resulting in blue iris color [Suzuki et al 2005].
Visual acuity in individuals with OCA4 ranges from 20/30 to 20/400 and is usually in the range of 20/100 to 20/200 [Rundshagen et al 2004, Suzuki et al 2005]. Vision is likely to be stable after early childhood and no major change or further reduction in vision should occur; loss of vision later in life is generally not related to the albinism.
#### Hair/Skin
The range of hair and skin pigment in individuals with OCA4 is broad [Newton et al 2001, Inagaki et al 2004, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005].
Hair. Individuals with OCA4 are often born with some pigment in their hair that ranges in color from silvery white to light yellow.
* Scalp hair may be very light, but it is usually not completely white (not as white as a sheet of paper or fresh snow); some parents may refer to light yellow/blond hair color as "white" or "nearly white" if it is very lightly pigmented or is much lighter than the hair color of other family members at a similar age.
* Furthermore, the definition of "white" scalp hair is not easy in some young children because the hair may be sparse and short and because some shampoos discolor hair.
* It is helpful to hold a piece of white paper next to the hair to determine if it is truly white.
* Hair color may darken with time, but usually the hair color does not change dramatically between childhood and adulthood [Inagaki et al 2004].
Skin. When hair color is blond or yellow, the skin is usually creamy white with little or no pigmentation. When hair color is somewhat darker, the skin is usually similar to that seen in unaffected individuals [Thody et al 1991].
Skin color in individuals with OCA4 is not usually as white as that in individuals with the OCA1A subtype of oculocutaneous albinism type 1, reflecting the fact that skin melanocytes in individuals with OCA4 can still synthesize some melanin; however, the majority of the melanin is yellow pheomelanin rather than black-brown eumelanin.
Skin cancer risk. Over many years, exposure of lightly pigmented skin to the sun can result in coarse, rough, thickened skin (pachydermia), solar keratoses (premalignant lesions), and skin cancer. Both basal cell carcinoma and squamous cell carcinoma can develop. The incidence rate of melanoma in individuals with OCA is unknown; however, the risk for melanoma in this population is generally considered to be higher than in unaffected individuals [Streutker et al 2000, Asuquo et al 2009].
Skin cancer is unusual in individuals with OCA4 in the US because of the availability of sunscreens, the social acceptability of wearing clothes that cover most of the exposed skin, and the fact that individuals with albinism often do not spend a great deal of time outside in the sun. Skin cancer in an individual with any type of OCA is very rare in northern areas of the US. Skin cancer in individuals with albinism is common particularly in some parts of Africa because of the increased amount of sun exposure throughout the year, the cultural differences in protective dress, and lack of skin-protective agents such as sunscreens. In addition, African individuals with albinism tend to have poorer prognosis with skin cancer because of late presentation to care and failure to complete treatment for economic reasons [Mabula et al 2012].
### Genotype-Phenotype Correlations
The lack of a functional assay for the SLC45A2 protein and the limited data from SLC45A2 molecular genetic testing make genotype-phenotype correlations difficult [Newton et al 2001, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005, Konno et al 2009].
Two common pathogenic alleles, p.Asp157Asn and p.Gly188Val, have been reported in Japanese individuals. The p.Asp157Asn allele may have very low functional activity in melanogenesis; p.Gly188Val may have some residual functional activity [Inagaki et al 2004].
Recently, a family with autosomal dominant OCA4 has been reported [Oki et al 2017], with a novel heterozygous pathogenic variant: c.208T>C (p.Tyr70His). Family members with the variant demonstrate a relatively mild phenotype, with a slightly creamy complexion, brown to black hair, and mild iris hypopigmentation.
The degree of cutaneous pigmentation, ocular pigmentation, and visual development resulting from particular SLC45A2 pathogenic variants cannot be predicted at this time.
### Nomenclature
The ocular features of all types of oculocutaneous albinism (OCA) and X-linked ocular albinism (OA1) are similar and the terms "oculocutaneous albinism" and "albinism" can be used interchangeably when referring to these clinical features.
### Prevalence
Prevalence of OCA4 is thought to be on the order of 1:100,000 in most populations throughout the world. It is likely to be more common in Japan, where it accounts for 24% of individuals with OCA [Inagaki et al 2004, Inagaki et al 2005].
OCA4 has also been described in individuals of German, Turkish, Korean, Indian, Chinese, Danish, and Moroccan descent [Newton et al 2001, Rundshagen et al 2004, Ikinciogullari et al 2005, Suzuki et al 2005, Sengupta et al 2007, Grønskov et al 2009, Konno et al 2009].
## Differential Diagnosis
### Table 2.
Disorders to Consider in the Differential Diagnosis of OCA4
View in own window
DisorderGene(s)MOIClinical Features of the Differential Disorder
Overlapping w/OCA4Distinguishing from OCA4
OCA1 (OMIM 203100, 606952)TYRAROculocutaneous
albinismMay have poorer visual acuity
OCA2 (OMIM 203200)OCA2ARNA
OCA3
(OMIM 203290)TYRP1ARReddish hair & freckled skin; only seen in individuals of African, Pakistani, German, Indian, & Japanese heritage
OCA5
(OMIM 615312)Unknown (candidate region is on 4q24)ARGolden hair
OCA6
(OMIM 113750)SLC24A5ARIndistinguishable due to functional similarity of SLC45A2 (OCA4) & SLC24A5
OCA7
(OMIM 615179)LRMDA (formerly C10orf11)ARRelatively severe impaired visual acuity
Hermansky-Pudlak syndrome (HPS)HPS1
AP3B1 (HPS2)
HPS3
HPS4
HPS5
HPS6
DTNBP1 (HPS7)
BLOC1S3 (HPS8)
BLOC1S6
AP3D1 (HPS10)ARBleeding tendency, platelet dense granules; granulomatous colitis & interstitial pneumonia in HPS1 & HPS4; immunodeficiency & hemophagocytic syndrome in HPS2 & HPS10
OA1GPR143XLOcular albinismColoring may appear normal but some may have mild hypopigmentation of skin & hair compared to family members.
FRMD7-related infantile nystagmusFRMD7XLNystagmusAbsence of oculocutaneous albinism
AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with oculocutaneous albinism type 4 (OCA4), the following evaluations are recommended if they have not already been completed:
* Complete ophthalmologic evaluation including measurement of visual acuity and refractive error
* Assessment for strabismus
* Assessment by dermatologist to instruct parents regarding use of sun-protective clothing, lotions, and formulas
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Ophthalmologic care is the most important part of the ongoing care for most individuals with OCA4.
The majority of individuals with albinism have significant hyperopia or myopia and astigmatism. Correction of these refractive errors with spectacles or contact lenses can improve visual acuity. Except in the very unusual individual, correction of refractive errors cannot restore visual acuity to normal because of the foveal hypoplasia.
The alternating strabismus found in most individuals with albinism is generally not associated with the development of amblyopia. Strabismus surgery is usually not required, but can be considered for cosmetic reasons if the strabismus is marked or fixed.
Photophobia is common in individuals with OCA4, but the degree of discomfort varies and does not depend entirely on the amount of melanin pigment present in the iris or skin. In general, opaque contact lenses or darkly tinted lenses do not improve visual function. Dark glasses may be helpful for individuals with albinism, but many prefer to go without dark glasses because of the reduction in vision from the dark lenses. A hat with a brim (e.g., a baseball hat with a visor) is often the best way to achieve reduction in photophobia and sun protection.
Protection from the sun through the wearing of protective clothing and the regular application of sunscreen is essential to prevent sunburn and secondary skin changes, and to decrease the risk of skin cancer in later life. Regular skin check-ups for skin cancer are recommended for adult individuals with OCA4, especially in cases of severe hypopigmentation.
### Prevention of Secondary Complications
Individuals with OCA4 should stay out of the sun from an early age, as cumulative ultraviolet exposure is a major risk factor for skin cancers (see Skin Cancer Risk).
Prolonged periods in the sun require skin protection with clothing (hats with brims, long sleeves and pants, socks) and sunscreen with a high SPF number (total blocks with SPF 45-50+). There is no scientific evidence to indicate how high an SPF value is enough; individuals with OCA4 should use sunscreen with higher SPF values (45-50+) to lessen as much as possible the cumulative effect of ultraviolet to their skin.
### Surveillance
Annual ophthalmologic examination and reassessment for accurate correction of refractive error are appropriate.
There is no definitive guideline supported by scientific evidence as to how often an individual should be evaluated by a dermatologist, though an evaluation of the skin for cancer screening every six months is recommended.
### Agents/Circumstances to Avoid
Avoid prolonged exposure of the skin to the sun.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Oculocutaneous Albinism Type 4
|
c3647231
| 26,097 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1510/
| 2021-01-18T21:06:39 |
{"synonyms": ["OCA4"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-51 (MRT51) is caused by homozygous mutation in the HNMT gene (605238) on chromosome 2q22.
Clinical Features
Heidari et al. (2015) reported 7 individuals from 2 unrelated families of Turkish and Kurdish descent, respectively, with autosomal recessive nonsyndromic mental retardation. The patients ranged in age from 13 to 35 years. All had delayed cognitive development since infancy, but only some had had delayed motor development. All had severe intellectual disability and poor speech. In 1 family, affected individuals showed additional worsening of the neurologic condition around age 5 years, and 2 females were more severely affected than 2 males, suggesting possible gender differences. Additional more variable features included mildly decreased height and small head circumference. None of the patients had dysmorphic features, and brain imaging in 1 patient was normal.
Inheritance
The transmission pattern of MRT51 in the families reported by Heidari et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected members of 2 unrelated consanguineous families with MRT51, Heidari et al. (2015) identified 2 different homozygous missense mutations in the HNMT gene (G60D, 605238.0002 and L208P, 605238.0003). The mutations, which were found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in the families. Patient lymphoblasts showed increased vulnerability to the toxic effects of high levels of histamine compared to controls. In vitro studies showed that the G60D mutation disrupted enzymatic activity, and that the L208PP mutation resulted in reduced protein stability. Thus, both mutations impaired the function of HNMT and decreased the inactivation of histamine, a neurotransmitter important for the developing brain.
INHERITANCE \- Autosomal recessive GROWTH Height \- Decreased height, mild HEAD & NECK Head \- Small head circumference NEUROLOGIC Central Nervous System \- Delayed cognitive development \- Mental retardation, severe \- Delayed motor development (in some patients) MISCELLANEOUS \- Two unrelated consanguineous families have been reported (last curated January 2016) \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the histamine N-methyltransferase gene (HNMT, 605238.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
|
c4225220
| 26,098 |
omim
|
https://www.omim.org/entry/616739
| 2019-09-22T15:48:03 |
{"omim": ["616739"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]}
|
Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Radiation proctitis
|
c0400827
| 26,099 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70475
| 2021-01-23T18:00:15 |
{"umls": ["C0400827"], "icd-10": ["K62.7"]}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.