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Pulmonary neuroendocrine tumors are neuroendocrine tumors localized to the lung: bronchus or pulmonary parenchyma.
Pulmonary neuroendocrine tumors include a spectrum of tumors from the low-grade typical pulmonary carcinoid tumor and intermediate-grade atypical pulmonary carcinoid tumor to the high-grade pulmonary large cell neuroendocrine carcinoma (LCNEC) and pulmonary small cell carcinoma (SCLC), with significant clinical, epidemiologic and genetic differences.[1]
## Contents
* 1 Types
* 2 Risk factor
* 3 Genetics
* 4 Diagnosis
* 5 References
## Types[edit]
Pulmonary neuroendocrine tumor are classified according to tumoral grade:
* Low grade pulmonary neuroendocrine tumor: Typical pulmonary carcinoid tumour (TC; low-grade);
* Intermediate-grade pulmonary neuroendocrine tumor: Atypical pulmonary carcinoid tumour (AC; intermediate-grade)
* High-grade pulmonary neuroendocrine tumor
* Small cell lung cancer (SCLC)
* Large cell neuroendocrine carcinoma (LCNEC of the lung)
Low-grade nodular neuroendocrine proliferations ≥ 0.5 cm are classified as carcinoid tumors and smaller ones are called pulmonary tumorlets.
When neuroendocrine cell hyperplasia and tumorlets are extensive, they represent the rare preinvasive lesion for carcinoids known as "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia".
Both LCNEC and SCLC can demonstrate histologic heterogeneity with other major histologic types of lung carcinoma, such as pulmonary adenocarcinoma or pulmonary squamous cell carcinoma, but is not characteristic of TC or AC.
## Risk factor[edit]
Multiple endocrine neoplasia type I (MEN1)can be found in carcinoid tumor patients, but not those with LCNEC and SCLC.
## Genetics[edit]
Genetic changes are very high in SCLC and LCNEC, but usually low for TC, intermediate for AC.
## Diagnosis[edit]
The diagnosis of SCLC, TC and AC can be made by light microscopy without the need for special tests in most cases, but for LCNEC it is required to demonstrate NE differentiation by immunohistochemistry or electron microscopy.
## References[edit]
1. ^ Travis, W. D. (2010). "Advances in neuroendocrine lung tumors". Annals of Oncology. 21 Suppl 7: vii65–71. doi:10.1093/annonc/mdq380. PMID 20943645.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pulmonary neuroendocrine tumor | c1334452 | 28,700 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_neuroendocrine_tumor | 2021-01-18T18:54:06 | {"umls": ["C1334452"], "wikidata": ["Q17125333"]} |
Haim–Munk syndrome
Other namesPalmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis
SpecialtyMedical genetics
Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis"[1]) is a cutaneous condition caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene.[1] It is named after Dr. Salim Haim and Dr. J Munk,[2] who first described the disease in 1965.[3]
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Symptoms[edit]
Most of the signs of Haim–Munk syndrome begin to manifest during the first 2–4 years of life.[4] Commons signs at this stage are thickening and scaling of the skin of the palms, soles (palmoplantar keratoderma) and elbows, and shedding of the primary dentition caused by recurrent episodes of dental caries and periodontitis. Patients also demonstrate hypertrophy and curving of nails (onychogryphosis), flat foot, extreme length and slenderness of fingers and toes (arachnodactyly), and osteolysis involving the distal phalanges of fingers and toes (acro-osteolysis).[5][6] Permanent flexion contractures of the large and small joints may occur as the disease progresses.[citation needed]
## Causes[edit]
Haim–Munk syndrome is an inherited autosomal recessive trait.[5] In some instances, the parents of individuals with Haim–Munk syndrome are consanguineously related.[5] Genetic analysis suggests that Haim–Munk syndrome may be due to the genetic mutation of gene CTSC cathepsin C, which is located on the long arm of chromosome 11.[5] Furthermore, analysis demonstrates that in individuals with Haim–Munk syndrome, a haplotype surrounded the gene location and appeared to be transmitted with it as unit. This suggests that the CTSC gene was inherited from a common ancestor.[5]
The CTSC cathepsin C gene regulates the production of the enzyme cathepsin C, which is expressed in various organs and tissues. The CTSC gene is thought to play a role in the differentiation of epithelial cells, resulting in the hyperkeratosis and erythema of the soles of feet and palms of hands,[5][6] and connects the gingiva to the tooth surface.[5]
## Diagnosis[edit]
Diagnosis comes from the taking of a comprehensive patient history and identification of characteristic symptoms. Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome.[5]
In many cases diagnosis of Haim–Munk syndrome may be difficult in small children, as many symptoms can be confused with other skin abnormalities. Diagnosis of the disease often comes between the ages of three and five when infant teeth begin to erupt, and the inflammation and degeneration of the tissues surrounding and supporting the teeth becomes apparent.[5]
## Treatment[edit]
Treatment of HMS is similar to that for Papillon-Lefevre Syndrome.[7]
* Oral retinoids, such as acitretin, etretinate, and isotretinoin, for the treatment of keratoderma and, less effectively, for periodontitis. Topical emollients, salicylic acid and urea preparations can also be used as adjuncts.
* Extraction of the primary teeth combined with oral antibiotics and professional teeth cleaning, for periodontitis.
It has been reported that Inflammation associated with the arthritis caused by HMS can be controlled by removal of the synovial tissue surrounding affected joints (synovectomy), at the cost of permanent handicap.[8]
## See also[edit]
* Ichthyosis–sclerosing cholangitis syndrome
* List of cutaneous conditions
* List of dental abnormalities associated with cutaneous conditions
## References[edit]
1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Al Aboud, Khalid; Al Aboud Daifullah (2011). "Salim Haim and the syndrome that bears his name". Dermatol. Online J. United States. 17 (8): 15. PMID 21906495.
3. ^ Haim, S.; Munk, J. (January 1965). "Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and a peculiar deformity of the terminal phalanges". The British Journal of Dermatology. 77: 42–54. doi:10.1111/j.1365-2133.1965.tb14565.x. ISSN 0007-0963. PMID 14252683. S2CID 19794326.
4. ^ Janjua, Shahbaz A.; Iftikhar, Nadia; Hussain, Ijaz; Khachemoune, Amor (2008). "Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings". Journal of the American Academy of Dermatology. 58 (2): 339–344. doi:10.1016/j.jaad.2007.08.004. PMID 18222334.
5. ^ a b c d e f g h i "Haim-Munk Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-04-17.
6. ^ a b Pahwa, Priyanka; Lamba, Arundeep K; Faraz, Farrukh; Tandon, Shruti (2010-07-01). "Haim-Munk syndrome". Journal of Indian Society of Periodontology. 14 (3): 201–203. doi:10.4103/0972-124x.75919. PMC 3100867. PMID 21760678.
7. ^ Siragusa, M.; Romano, C.; Batticane, N.; Batolo, D.; Schepis, C. (March 2000). "A new family with Papillon-Lefèvre syndrome: effectiveness of etretinate treatment". Cutis. 65 (3): 151–155. ISSN 0011-4162. PMID 10738634.
8. ^ Lidar, Merav; Zlotogorski, Abraham; Langevitz, Pnina; Tweezer-Zaks, Nurit; Zandman-Goddard, Gisele (April 2004). "Destructive arthritis in a patient with Haim-munk syndrome". The Journal of Rheumatology. 31 (4): 814–817. ISSN 0315-162X. PMID 15088315.
## External links[edit]
Classification
D
* ICD-10: Q82.8
* OMIM: 245010
* MeSH: C537627
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Haim–Munk syndrome | c1855627 | 28,701 | wikipedia | https://en.wikipedia.org/wiki/Haim%E2%80%93Munk_syndrome | 2021-01-18T18:31:10 | {"gard": ["44"], "mesh": ["C537627"], "umls": ["C1855627"], "icd-10": ["Q82.8"], "orphanet": ["2342"], "wikidata": ["Q5639341"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (October 2011) (Learn how and when to remove this template message)
Perthes lesion
Glenohumeral
Perthes lesion is a variant of Bankart lesion, presenting as an anterior glenohumeral injury that occurs when the scapular periosteum remains intact but is stripped medially and the anterior labrum is avulsed from the glenoid but remains partially attached to the scapula by intact periosteum.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 Eponym
* 5 References
## Cause[edit]
This section is empty. You can help by adding to it. (November 2017)
## Diagnosis[edit]
The lesion is associated with any damage to the antero-inferior labrum. Most commonly due to anterior shoulder dislocation. The lesion often occurs after the initial dislocation. In chronic cases, there may be fibrosis and resynovialization of the labrum and periosteum.
The lesion is best identified on MR arthrography. Additional views in ABER (ABduction and External Rotation) of the shoulder aid in this diagnosis.
Differential diagnoses include:
* Bankart lesion
* Alpsa lesion
* GLAD[clarification needed]
* HAGL[clarification needed]
* BHAGL[clarification needed]
## Treatment[edit]
Treatment is surgical re-attachment of the labrum preferably via arthroscopy.
## Eponym[edit]
It is named after Georg C. Perthes (1869-1927), a German Surgeon and X-Ray diagnostic pioneer who first described the lesion in 1905.
## References[edit]
1\. Perthes Lesion (A Variant of the Bankart Lesion): MR Imaging and MR Arthrographic Findings with Surgical Correlation Thorsten K. Wischer, Miriam A. Bredella, Harry K. Genant, David W. Stoller, Frederic W. Bost, and Phillip F. J. Tirman AJR January 2002 178:233-237
2\. MRI of the shoulder By Michael B. Zlatkin, Lippincott, Williams and Wilkins 2003
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Perthes lesion | None | 28,702 | wikipedia | https://en.wikipedia.org/wiki/Perthes_lesion | 2021-01-18T18:56:53 | {"wikidata": ["Q7170923"]} |
Erythema nodosum
Other namesSubacute migratory panniculitis of Vilanova and Piñol
Erythema nodosum in a person who had recently had streptococcal pharyngitis
SpecialtyDermatology, rheumatology
Erythema nodosum (EN), is an inflammatory condition characterized by inflammation of the fat cells under the skin, resulting in tender red nodules or lumps that are usually seen on both shins.[1] It can be caused by a variety of conditions, and typically resolves spontaneously within 30 days.[2] It is common in young people aged 12–20 years.
## Contents
* 1 Signs and symptoms
* 1.1 Pre-eruptive phase
* 1.2 Eruptive stage
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 Eponym
* 8 References
* 9 External links
## Signs and symptoms[edit]
### Pre-eruptive phase[edit]
The first signs of erythema nodosum are often flu-like symptoms such as a fever, cough, malaise, and aching joints. Some people also experience stiffness or swelling in the joints and weight loss.[3]
### Eruptive stage[edit]
Erythema nodosum is characterised by 1–2-inch (25–51 mm) nodules (rounded lumps) below the skin surface, usually on the shins. These subcutaneous nodules can appear anywhere on the body, but the most common sites are the shins, arms, thighs, and torso. Each nodule typically disappears after around two weeks, though new ones may continue to form for up to six or eight weeks.[3] A new nodule usually appears red and is hot and firm to the touch. The redness starts to fade and it gradually becomes softer and smaller until it disappears. Each nodule usually heals completely without scarring over the course of about two weeks.[3][4] Joint pain and inflammation sometimes continue for several weeks or months after the nodules appear.[5]
Less common variants of erythema nodosum include:
* Ulcerating forms, seen in Crohn's disease
* Erythema contusiforme, when a subcutaneous hemorrhage (bleeding under the skin) occurs with an erythema nodosum lesion, causing the lesion to look like a contusion (bruise)
* Erythema nodosum migrans (also known as subacute nodular migratory panniculitis), a rare form of chronic erythema nodosum characterized by asymmetrical nodules that are mildly tender and migrate over time.[6][7][8]
* Erythema nodosum lesion in a person with tuberculosis
* A single lesion of erythema nodosum
* Erythema nodosum in rather dark skin
## Causes[edit]
EN is associated with a wide variety of conditions, including:
Idiopathic
In about 30–50% of cases, the cause of EN is unknown.[9]
Infection[5]
* Streptococcal infection which, in children, is by far the most common precipitant,[8]
* Primary infection of Tuberculosis
* Mycoplasma pneumoniae
* Histoplasma capsulatum
* Yersinia
* Epstein-Barr virus
* Coccidioides immitis (Valley fever)
* Cat scratch disease
Autoimmune disorders, including[6]
* Inflammatory bowel disease (IBD): about 15% of patients develop erythema nodosum.[10]
* Behçet's disease
* Sarcoidosis
Pregnancy[6]
Medications, including[6][9][11]
* Sulfonamides
* Penicillins
* Bromides
* Hepatitis B vaccination[12]
Cancer, including[6]
* Non-Hodgkin's lymphoma (NHL)
* Carcinoid tumours
* Pancreatic cancer
EN may also be due to excessive antibody production in lepromatous leprosy leading to deposition of immune complexes.[13]
There is an association with the HLA-B27 histocompatibility antigen, which is present in 65% of patients with erythema nodosum.[14]
A useful mnemonic for causes is SORE SHINS (Streptococci, OCP, Rickettsia, Eponymous (Behçet), Sulfonamides, Hansen's Disease (Leprosy), IBD, NHL, Sarcoidosis.[15]
## Pathophysiology[edit]
Erythema nodosum is probably a delayed hypersensitivity reaction to a variety of antigens. Although circulating immune complexes have been demonstrated in patients with inflammatory bowel disease, they have not been found in idiopathic or uncomplicated cases.[16]
## Diagnosis[edit]
Erythema nodosum is diagnosed clinically. A biopsy can be taken and examined microscopically to confirm an uncertain diagnosis.[4] Microscopic examination usually reveals a neutrophilic infiltrate surrounding capillaries that results in septal thickening, with fibrotic changes in the fat around blood vessels. A characteristic microscopic finding is radial granulomas, well-defined nodular aggregates of histiocytes surrounding a stellate cleft.[5]
Additional evaluation should be performed to determine the underlying cause of erythema nodosum. This may include a full blood count, erythrocyte sedimentation rate (ESR), antistreptolysin-O (ASO) titer and throat culture, urinalysis, intradermal tuberculin test, and a chest x-ray.[17] The ESR is typically high, the C-reactive protein elevated, and the blood showing an increase in white blood cells.[4]
The ESR is initially very high and falls as the nodules of erythema nodosum. The ASO titer is high in cases associated with a streptococcal throat infection. A chest X-ray should be performed to rule out pulmonary diseases, in particular sarcoidosis and Löfgren syndrome.[4]
## Treatment[edit]
Erythema nodosum is self-limiting and usually resolves itself within 3–6 weeks. A recurring form does exist, and in children, it is attributed to repeated infections with streptococcus.[13] Treatment should focus on the underlying cause. Symptoms can be treated with bed rest, leg elevation, compressive bandages, wet dressings, and nonsteroidal anti-inflammatory agents (NSAIDs).[5] NSAIDs are usually more effective at the onset of EN versus with chronic disease.
Potassium iodide can be used for persistent lesions whose cause remains unknown. Corticosteroids and colchicine can be used in severe refractory cases.[18][19] Thalidomide has been used successfully in the treatment of Erythema nodosum leprosum,[20] and it was approved by the U.S. FDA for this use in July 1998.[21] According to a 2009 meta-analysis, there is some evidence of benefit for both thalidomide and clofazimine in the treatment of erythema nodosum leprosum.[22]
## Epidemiology[edit]
Erythema nodosum is the most common form of panniculitis. It is most common in the ages of 20–30, and affects women 3–6 times more than men.[4]
## Eponym[edit]
The term, Subacute Migratory Panniculitis of Vilanova and Piñol, was named after the two famous Catalan dermatologists who provided a brief description and explanation of the disease, Drs. Xavier Montiu Vilanova (1902–1965) and Joaquin Aguade Piñol (1918–1977), in 1954, and was named in 1956.[23][24]
## References[edit]
1. ^ "Erythema Nodosum". Johns Hopkins Medicine. Johns Hopkins Medicine. Retrieved 12 June 2019.
2. ^ Pedro-Pons, Agustín (1968). Patología y Clínica Médicas (in Spanish). 6 (3rd ed.). Barcelona: Salvat. p. 193. ISBN 978-84-345-1106-4.
3. ^ a b c "Information for Families Erythema nodosum". Great Ormond Street Hospital for Children NHS Foundation Trust. GOSH NHS Foundation Trust. April 2012. Ref: 2012F1224.
4. ^ a b c d e Fitzpatrick, Thomas B. (2005). Fitzpatrick's color atlas and synopsis of clinical dermatology (5th ed.). New York: McGraw-Hill. p. 148. ISBN 978-0-07-144019-6.
5. ^ a b c d Schwartz, R. A.; Nervi, S. J. (2007). "Erythema nodosum: A sign of systemic disease". American Family Physician. 75 (5): 695–700. PMID 17375516.
6. ^ a b c d e Gilchrist, Heidi; Patterson, James W. (2010). "Erythema nodosum and erythema induratum (nodular vasculitis): Diagnosis and management". Dermatologic Therapy. 23 (4): 320–7. doi:10.1111/j.1529-8019.2010.01332.x. PMID 20666819. S2CID 39695627.
7. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
8. ^ a b William D. James; Timothy G. Berger; Dirk M. Elston (2011). Andrews' Diseases of the skin : clinical dermatology (11th ed.). [London]: Saunders/ Elsevier. p. 488. ISBN 978-1-4377-0314-6.
9. ^ a b Mert, Ali; Ozaras, Resat; Tabak, Fehmi; Pekmezci, Salih; Demirkesen, Cuyan; Ozturk, Recep (2009). "Erythema Nodosum: An Experience of 10 Years". Scandinavian Journal of Infectious Diseases. 36 (6–7): 424–7. doi:10.1080/00365540410027184. PMID 15307561. S2CID 13123205.
10. ^ Goldman, Lee (2012). Goldman's Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. p. 915. ISBN 978-1-4377-2788-3.
11. ^ Bohn, S; Büchner, S; Itin, P (1997). "Erythema nodosum: 112 cases. Epidemiology, clinical aspects and histopathology". Schweizerische Medizinische Wochenschrift. 127 (27–28): 1168–76. PMID 9324739.
12. ^ Rogerson, S J; Nye, F J (1990). "Hepatitis B vaccine associated with erythema nodosum and polyarthritis". BMJ. 301 (6747): 345. doi:10.1136/bmj.301.6747.345. PMC 1663612. PMID 2144199.
13. ^ a b Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon C. (2009). Robbins and Coltran Pathological Basis of Disease. pp. 372–3. ISBN 978-1-4160-4930-2.
14. ^ Cunha, Burke A. (1999). Infectious disease pearls. Philadelphia: Hanley & Belfus. p. 105. ISBN 978-1-56053-203-3.
15. ^ Dr Kevin McCarthy, Cork, Ireland or DIPOUT: Drugs (e.g. sulfonamides), Infections (e.g. strep), Pregnancy, OCP, Ulcerative colitis, TB[full citation needed]
16. ^ Nguyen, Geoffrey C.; Torres, Esther A.; Regueiro, Miguel; Bromfield, Gillian; Bitton, Alain; Stempak, Joanne; Dassopoulos, Themistocles; Schumm, Philip; Gregory, Federico J.; Griffiths, Anne M.; Hanauer, Stephen B.; Hanson, Jennifer; Harris, Mary L.; Kane, Sunanda V.; Orkwis, Heather Kiraly; Lahaie, Raymond; Oliva-Hemker, Maria; Pare, Pierre; Wild, Gary E.; Rioux, John D.; Yang, Huiying; Duerr, Richard H.; Cho, Judy H.; Steinhart, A. Hillary; Brant, Steven R.; Silverberg, Mark S. (2006). "Inflammatory Bowel Disease Characteristics Among African Americans, Hispanics, and Non-Hispanic Whites: Characterization of a Large North American Cohort". The American Journal of Gastroenterology. 101 (5): 1012–23. PMID 16696785.
17. ^ García-Porrúa, Carlos; González-Gay, Miguel A.; Vázquez-Caruncho, Manuel; López-Lazaro, Luis; Lueiro, Mercedes; Fernández, Maria L.; Alvarez-Ferreira, Javier; Pujol, Ramón M. (2000). "Erythema nodosum: Etiologic and predictive factors in a defined population". Arthritis & Rheumatism. 43 (3): 584–92. doi:10.1002/1529-0131(200003)43:3<584::AID-ANR15>3.0.CO;2-6. PMID 10728752.
18. ^ Mat, C.; Yurdakul, S; Uysal, S; Gogus, F; Ozyazgan, Y; Uysal, O; Fresko, I; Yazici, H (2005). "A double-blind trial of depot corticosteroids in Behcet's syndrome". Rheumatology. 45 (3): 348–52. doi:10.1093/rheumatology/kei165. PMID 16263779.
19. ^ Yurdakul, Sebahattin; Mat, Cem; Tüzün, Yalçin; Özyazgan, Yilmaz; Hamuryudan, Vedat; Uysal, Ömer; Şenocak, Mustafa; Yazici, Hasan (2001). "A double-blind trial of colchicine in Behçet's syndrome". Arthritis & Rheumatism. 44 (11): 2686–92. doi:10.1002/1529-0131(200111)44:11<2686::AID-ART448>3.0.CO;2-H. PMID 11710724. S2CID 19523919.
20. ^ Silverman, W. A. (2002). "The Schizophrenic Career of a 'Monster Drug'". Pediatrics. 110 (2): 404–6. doi:10.1542/peds.110.2.404. PMID 12165600.
21. ^ Rouhi, Maureen (2005). "Thalidomide". Chemical & Engineering News Archive. 83 (25): 122. doi:10.1021/cen-v083n025.p122.
22. ^ Van Veen, Natasja H. J.; Lockwood, Diana N. J.; van Brakel, Wim H.; Ramirez, Jose; Richardus, Jan Hendrik (2009-07-08). "Interventions for erythema nodosum leprosum". The Cochrane Database of Systematic Reviews (3): CD006949. doi:10.1002/14651858.CD006949.pub2. ISSN 1469-493X. PMID 19588412.
23. ^ Subacute Nodular Migratory Panniculitis (Vilanova Disease) at eMedicine
24. ^ Mascaró, J. M. (1978). "In memoriam Joaquin Piñol Aguadé, 1918--1977". Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und Verwandte Gebiete. 29 (11): 613–4. PMID 363649.
## External links[edit]
Classification
D
* ICD-10: L52
* ICD-9-CM: 695.2, 017.1
* MeSH: D004893
* DiseasesDB: 4462
External resources
* MedlinePlus: 000881
* eMedicine: derm/138
Wikimedia Commons has media related to Erythema nodosum.
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
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*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[Percent]: Percent of total in category
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
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*[lit.]: literal translation
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*[No.]: Number
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*[m.]: married
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*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
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*[MAOA]: Monoamine oxidase A
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| Erythema nodosum | c0014743 | 28,703 | wikipedia | https://en.wikipedia.org/wiki/Erythema_nodosum | 2021-01-18T19:06:02 | {"mesh": ["D004893"], "umls": ["C0014743"], "icd-9": ["017.1", "695.2"], "icd-10": ["L52"], "wikidata": ["Q1363738"]} |
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* t
* e
Abortion in Canada is legal at all stages of pregnancy and funded in part by the Canada Health Act.[1] While some non-legal barriers to access continue to exist, such as lacking equal access to providers,[1] Canada is the only nation with absolutely no specific legal restrictions on abortion.[2][3] Medical regulations and accessibility vary between provinces.[4]
Prior to 1969, all abortion was illegal in Canada.[5] In 1969, the Criminal Law Amendment Act, 1968–69 legalized abortion, as long as a committee of doctors certified that continuing the pregnancy would likely endanger the woman's life or health.[5] In 1988, the Supreme Court of Canada ruled in R. v. Morgentaler that the existing law was unconstitutional, and struck down the 1969 law.[6] Most abortions are performed in the first trimester.[7]
In 2017, 94,030 abortions were reported in Canada; it is estimated that this number "represents approximately 90% of all abortions performed in Canada involving Canadian residents".[8] The ambiguity of these statistics is due to incomplete reporting measures. For example, clinics are not required to report to the province, and provinces are not required to report federally.[9]
## Contents
* 1 Early history
* 2 Liberalisation of abortion laws
* 2.1 Chief Coroner Schulman
* 2.2 Partial de-criminalisation
* 2.3 Badgley report
* 3 Continued difficulties in access
* 4 Legal challenges to the abortion law
* 4.1 Morgentaler challenges the law
* 4.2 Supreme Court decision
* 4.3 Attempts at a new law
* 4.4 Later cases
* 5 Access throughout Canada
* 5.1 Access by province
* 6 Politics
* 7 Opinion polls
* 8 Abortion rights movement
* 9 Anti-abortion movement
* 10 Attacks on doctors who perform abortions
* 11 See also
* 12 References
* 13 Further reading
* 14 External links
## Early history[edit]
Emily Howard Stowe was the first female physician to practise in Canada, the second licensed female physician in Canada and an activist for women's rights and suffrage.
Prior to Confederation, the British North American colonies followed British laws that had restricted many abortion rights with the Malicious Shooting or Stabbing Act 1803, followed by full prohibition with the Offences Against the Person Act 1837.[10] Abortion was formally banned in Canada in 1869.[10] That prohibition was continued in the Criminal Code until 1969. Anyone who procured a miscarriage for a woman was liable to imprisonment for life, while a woman who procured a miscarriage for herself was liable to imprisonment for two years.[11]
As in other countries, illegal abortions were still performed, and some cases charged that this led to the deaths of women. The abortion trial of Emily Stowe (1879) is one early example.[12] Another such case, Azoulay v. The Queen,[13] reached the Supreme Court in 1952. In both cases, the alleged abortion provider was ultimately acquitted of responsibility for the woman's death. Abortion rights activists like Marilyn Wilson, former executive director of the Canadian Abortion Rights Action League, say, "Illegal abortions were common, but often of poor safety. Several hundred women per year died from botched abortions."[14]
## Liberalisation of abortion laws[edit]
### Chief Coroner Schulman[edit]
The movement to liberalize Canada's abortion laws began in the 1960s. Former Chief Coroner of Ontario Morton Shulman recalls that in the Sixties, abortion could be legally performed only to save the life of the woman, so there were practically no legal abortions. He stated that the pregnant daughters of the rich were sent to reliable physicians who did abortions for cash. He estimated that these physicians did twenty to thirty abortions per week. Women who were not rich were left to perform an abortion on themselves or go to what he called a "nurse" abortionist. Their method was commonly pumping Lysol into the woman's womb. The mortality rate was high and the infection rate over 50%. He added, "By the time I became Chief Coroner, I had had the unpleasant experience of seeing the bodies of some dozens of young women who had died as a result of these amateur abortions."[15]
Chief Coroner Morton Shulman decided to publicize deaths from illegal abortions.[16] He instructed his coroners to call a public inquest into each abortion death.[16] He describes one case that he believes was the turning point, that of 34-year-old Lottie Leanne Clarke, a mother of three children, who died of a massive infection in 1964 after an illegal abortion in spite of medical treatment and antibiotics. At the inquest into her death, the jury recommended that the laws about therapeutic abortion be revised. Dr. Shulman added that a federal government committee should review the question of abortion and the law. Newspapers published editorials recommending the reform of the abortion law. In 1965, the Minister of Justice, Guy Favreau, wrote to Dr. Shulman that the recommendation would be considered in the program to amend the Criminal Code. The eventual amendment closely followed the recommendations of the coroners' juries.[15]
### Partial de-criminalisation[edit]
In 1967, Justice Minister Pierre Trudeau introduced a bill which included an amendment to the provision of the Criminal Code which prohibited abortions.[17] The bill, known as the Criminal Law Amendment Act, 1968–69, continued the basic prohibition on abortions, with the potential life sentence. However, the bill made an exception for abortions performed in a hospital with the approval of that hospital's three-doctor therapeutic abortion committee. The committee would have to certify that the pregnancy would be likely to endanger the life or health of the pregnant woman. The term health was not defined, and therapeutic abortion committees were free to develop their own theories as to when a likely danger to "health" (which might include psychological health) would justify a therapeutic abortion.[17]
This same bill also legalized homosexuality and contraception, and would be the subject of one of Trudeau's most famous quotations: "The state has no business in the bedrooms of the nation."[18][19]
When he introduced the bill in 1967, Trudeau was Minister of Justice in the government of Prime Minister Lester Pearson. In 1968, Pearson retired and Trudeau succeeded him as prime minister. The bill did not pass before the 1968 election, but was re-introduced by John Turner, Minister of Justice in the Trudeau government. Parliament passed the bill in 1969.[20] In the 1970 federal statute revision, the provision was re-numbered as s. 251 of the Criminal Code.[21]
### Badgley report[edit]
In 1975, a Committee on the Operation of the Abortion Law was appointed "to conduct a study to determine whether the procedure provided in the Criminal Code for obtaining therapeutic abortions [was] operating equitably across Canada", and to make recommendations "on the operation of this law rather than recommendations on the underlying policy". The Committee, known as the Badgley Committee after its Chair, Dr. Robin F. Badgley,[22] reported in January 1977. It found, quite simply, that "the procedures set out for the operation of Abortion Law are not working equitably across Canada". In large part, this was because the intent of the law was neither clear nor agreed upon. Access to abortion as set out in the Criminal Code was not available for many women due to variations in distribution of hospitals and doctors, and in whether Therapeutic Abortion Committees were set up and in doctors' interpretations of "health" for women, ages of consent, and parental notification requirements. The report recommended better family planning to reduce the number of unwanted pregnancies; but their main conclusion was that abortion services were not being delivered as required.[23]
## Continued difficulties in access[edit]
By 1982, there were 66,319 legal abortions in Canada.[24] Interpretation of the 1969 law varied widely between doctors and hospitals, leading to uneven access. The standard was the physical or mental well-being of the woman, to be decided by a hospital's Therapeutic Abortion Committee. However, there was no requirement for a hospital to have a TAC to evaluate women. Only about one-third of hospitals had one. Some committees took a liberal stance and allowed most requests, while others blocked almost all requests. Access to legal abortions was easy in major metropolitan areas, but much harder outside large cities. In the province of Prince Edward Island, the lone Therapeutic Abortion Committee shut down, and there were no legal abortions in the province after 1982.[25] The Therapeutic Abortion Committees often took days or weeks to make their decisions, pushing a pregnancy further along than it would have been otherwise. The women were not seen by the committee, and had no right to appeal a decision. Advocates for abortion rights believed that the choice should be made by the woman, rather than a panel of doctors.[26]
Because of the lack of facilities in smaller provinces and rural areas, women were often forced to travel to major cities at their own expense. In Newfoundland, there was only a single gynaecologist who performed abortions. Many women had to buy expensive plane tickets to Toronto or Montreal to get an abortion.[24] Other women chose to travel to the United States, where abortions became available at many private clinics after the Roe vs. Wade decision in 1973. In 1982, 4,311 Canadian women travelled to the United States for an abortion.[25]
## Legal challenges to the abortion law[edit]
### Morgentaler challenges the law[edit]
Dr. Henry Morgentaler was an abortion-rights advocate physician who fought numerous legal battles aimed at expanding abortion rights.
In defiance of the law, Dr. Henry Morgentaler began performing abortions at his clinic without approval of a Therapeutic Abortion Committee and in contravention of the law.[27] In 1973, Morgentaler stated publicly that he had performed 5,000 abortions without the permission of the three-doctor committees, even going so far as to videotape himself performing operations.[28]
The Attorney General of Quebec prosecuted Morgentaler twice, and both times juries refused to convict him despite his outright admission that he had performed many abortions. The Attorney General appealed one of the acquittals. In 1974, the Quebec Court of Appeal overturned the jury's verdict, and Morgentaler was sentenced to 18 months in jail. Morgentaler then appealed to the Supreme Court of Canada from the overturning of the jury verdict. He also challenged the constitutional validity of s. 251 under the division of powers. In 1975, the Supreme Court dismissed his appeal.[29] Public outcry over the decision caused the federal government to amend the Criminal Code (commonly known as the Morgentaler Amendment)[citation needed] preventing appeal courts from substituting a conviction for a jury's not-guilty verdict.[30] Morgentaler was again acquitted at a third trial, causing the Quebec government to declare the law unenforceable.[6]
Morgentaler's struggle prompted a nationwide movement to reform Canada's abortion laws. In 1970, as part of the Abortion Caravan, 35 women chained themselves to the parliamentary gallery in the House of Commons, closing Parliament for the first time in Canadian history.[31]
Upon his release from prison in Quebec, Morgentaler decided to challenge the law in other provinces. Over the next ten years, he opened and operated private abortion clinics across the country in direct violation of the law. Following a fourth jury acquittal in 1984, the Ontario government appealed the decision. The Ontario Court of Appeal set aside the acquittal and ordered a re-trial.[6]
Morgentaler, in turn, appealed to the Supreme Court of Canada.
### Supreme Court decision[edit]
In a landmark decision, the Supreme Court declared in 1988 the entirety of the country's abortion law to be unconstitutional: R. v. Morgentaler.[32] By a 5-2 decision, the Court held that section 251 of the Criminal Code was of no force or effect because it violated section 7 of the Canadian Charter of Rights and Freedoms. Section 7 states that: "Everyone has the right to life, liberty, and the security of the person, and the right not to be deprived thereof, except in accordance with the principles of fundamental justice." The Court also held that the infringement could not be justified under s. 1 of the Charter, which in some cases allows a government to provide a reasonable justification for the infringement.
There was no single majority judgment. Chief Justice Dickson, Justice Beetz, and Justice Wilson all wrote decisions finding the law to be unconstitutional, but for varying reasons in support. Justice McIntyre wrote the dissenting opinion.
Chief Justice Dickson held that "[f]orcing a woman, by threat of criminal sanction, to carry a fetus to term unless she meets certain criteria unrelated to her own priorities and aspirations" infringed the woman's right to security of the person, as protected by s. 7 of the Charter.[33] Justice Wilson found that the law "asserts that the woman's capacity to reproduce is to be subject, not to her own control, but to that of the state" which similarly breached the right to security of the person.[34][6]
Having found that law infringed the right to security of the person, the majority then considered whether that infringement was consistent with the principles of fundamental justice, which is the second branch of s. 7 of the Charter. The judges in the majority agreed that the procedural requirements to obtain an abortion, as set forth in the law, were especially troublesome. Only accredited or approved hospitals could perform abortions, which imposed a barrier to local access. The law also specified that women wanting an abortion were required to obtain approval from a "therapeutic abortion committee" in a hospital. The committee was composed of at least three physicians appointed by the hospital's board of members, and did not include the practitioner who was to perform the procedure.[35] The court found that the committee requirement was deeply flawed, in part because of the long delays caused by the committees and that in many hospitals, the committees were merely committees on paper and did not actually approve abortions.
Chief Justice Dickson held that "the structure -- the system regulating access to therapeutic abortions -- is manifestly unfair. It contains so many potential barriers to its own operation that the defence it creates will in many circumstances be practically unavailable to women who would prima facie qualify..." Noted barriers included a lack of hospitals with committees, doctors who did not wish to refer matters to committees, the lack of a standard meaning for "health" leading to inconsistent standards among committees, and geographical and financial differentials in treatment. He concluded the provision violated the principles of fundamental justice.[36]
The majority of the court in Morgentaler did not find it necessary to consider whether there was a substantive right to abortion under Section 7. Justice Wilson was of the opinion that such a right existed, but the other judges in the majority made their decision on procedural grounds, relating to the insufficiencies in the committee process.
### Attempts at a new law[edit]
Following the Supreme Court decision, the Mulroney government made two attempts to enact a new abortion law.
In the spring of 1988, the government first attempted to find a compromise solution that would give easy access to abortion in the early stages of pregnancy and criminalize late term ones. The motion in the House of Commons was defeated 147 to 76, voted against by both MPs who opposed easy access to abortions and those who opposed adding any abortion rules to the Criminal Code.[37]
The Supreme Court decision became an important issue in the 1988 federal election later that fall. Both the Progressive Conservative and Liberal parties were sharply divided on the issue and neither party advanced a concrete platform on the abortion issue. Prime Minister Brian Mulroney declared he was opposed to "abortion on demand", but gave no details on what that meant legally.[38] Liberal leader John Turner stated that MPs should be allowed to vote their conscience, but refused to give his own opinion on the issue. NDP leader Ed Broadbent had a firm position that abortion is a medical matter, not a criminal one, and should be left to a woman and her doctor.[39] The Mulroney government was returned in the 1988 election.
In 1989, the government introduced a much stricter bill in the House of Commons. If enacted, it would ban all abortions unless a doctor ruled the woman's life or health would be threatened. Anyone found in violation of the law could be imprisoned for up to two years.[40] The House of Commons passed the new bill by nine votes, with the cabinet being whipped in favour and most anti-abortion members supporting it.[41] In June 1990, a teenager from Kitchener, Ontario, was injured during a botched abortion performed in a man's home. Several days later, a Toronto woman, Yvonne Jurewicz, died from a self-induced, coat-hanger abortion.[42] These cases were reported in the news and the latter case was discussed at multiple levels of government. Speaking in the Legislative Assembly of British Columbia, New Democratic MLA Darlene Marzari pointed out:
> For our purposes, though technically speaking the bill has not been proclaimed, Bill C-43 is, in the minds of the public and in the minds of women, now law. In fact, while we're dancing on the head of a pin and counting ourselves as angels, a woman in Toronto has died—she bled to death—three weeks ago. Her name was Yvonne Jurewicz, she was 20 years old and was probably afraid to go to the doctor and afraid to go to the hospital after she tried to abort herself. This is the sad fact of Bill C-43. While we debate the minor points of whether or not the Lieutenant Governor or the Governor-General of Canada has picked it up, we know that young women in this country are under the impression they will be considered criminals if they show up in an emergency ward door hemorrhaging.[43]
Reform Party MP Deborah Grey, who supported the bill, denied that this death, the first known death from illegal abortion in Ontario in twenty years, could have anything to do with the publicity surrounding the passing of Bill C-43.[44] But in Ontario, the connection was made. Richard Johnston, MPP suggested to Premier David Peterson that Ontario announce it would not start any third-party prosecutions against women or doctors, to prevent any further tragedies and to reassure doctors that they could go on providing services to the women of Ontario.[45]
A few months later, the bill failed in the Senate on a tie vote. Under the rules of the Senate, a tie meant the measure was defeated.[46] The defeat was somewhat unexpected since it was the first time since 1941 that the Senate, whose members are appointed, had outright defeated legislation passed by the House. Eike-Henner Kluge the director of the Canadian Medical Association ethics and legal affairs viewed that the bill was flawed ethically. Eike-Henner Kluge drafted an analysis for a Senate committee about Bill C-43 and his presentation may have swayed two votes to change resulting in a tie vote which resulted in the Senate not passing the Bill C-43.[5]
In the wake of the controversy surrounding passage of the Goods and Services Tax the Progressive Conservative government did not wish to provoke a contest of wills with the Senate and announced it would not re-introduce the legislation. The fact that no subsequent government has re-visited this decision has been what has led to the unique situation of Canada having no abortion law whatsoever. Abortion was now treated like any other medical procedure, governed by provincial and medical regulations.
### Later cases[edit]
The court in Morgentaler did not consider the question of whether the unborn were included in the "everyone" who have the right to life. At that time, another case before the courts would have raised that issue; it was brought by Joe Borowski, a Member of the Legislative Assembly of Manitoba. However, after the Morgentaler decision, the Court held that the Borowski case was moot since Morgentaler had struck down the provisions it was challenging.
Two further cases, Tremblay v. Daigle and R. v. Sullivan,[47] relied on the born alive rule, inherited from English common law, to determine that the fetus was not a person: Sullivan could not be charged with murder of a fetus and Daigle could not seek standing in court as the guardian of a fetus. The 1989 Supreme Court of Canada case of Chantal Daigle[48] is one of the most widely publicized cases concerning abortion in Canada after the law prohibiting abortions was overturned by the Supreme Court of Canada. Daigle's ex-boyfriend obtained a restraining order against her having an abortion. While the restraining order was issued in Quebec, it was legally restricting Canada-wide. The Supreme Court of Canada ruled that only the woman could make the choice; the man had no legal say in a woman's choice to terminate a pregnancy or carry it to completion.
Daigle had already had a late second-term abortion before the Court ruled on her case. While the case was fast-tracked, the progress was so slow that Daigle would have been in the third-trimester had she waited for the ruling to be handed down. Daigle had an abortion in the United States while the case was before the Supreme Court of Canada. This was not made public until after the ruling, although it was not unexpected. This is in contrast to the Roe v. Wade case in the United States where Roe had carried the pregnancy to term. That case, however, was different from the Tremblay v. Daigle case in that it was about whether abortion was legal. In the Tremblay v. Daigle case, the question was whether a male partner has a say in whether a woman can obtain an abortion ruling.
Two further cases addressed the "interest in the fetus". In Dobson (Litigation Guardian of) v. Dobson,[49] a grandfather attempted to act on behalf of a child born with cerebral palsy, supposedly resulting from a car accident in which the mother was the driver. He attempted to sue the mother with negligence in driving. The mother was in favor of the suit succeeding as it would have provided her with funds to raise her disabled child; her insurance company was defending the suit through subrogation. Citing the Kamloops v. Nielsen,[50] the Court decided that courts cannot impose a duty of care on a pregnant woman toward her fetus because it would interfere with the exercise of her autonomy rights during pregnancy and faced difficulty in defining a standard of care in pregnancy. Only a legislature can do this. In Winnipeg Child & Family Services (Northwest Area) v. G. (D.F.),[51] courts determined that a pregnant woman addicted to solvents could not be civilly committed for treatment.
## Access throughout Canada[edit]
Abortions in Canada are provided on request and funded by Medicare, to Canadian citizens and permanent residents (as with most medical procedures) in hospitals across the country. Abortion funding for hospitals comes from the various provincial governments (their overall health expenses are however paid for in part by the federal government). One-third of hospitals perform abortions, and these perform two-thirds of abortions in the country. The remaining abortions are performed by public and private-for-profit clinics.[citation needed]
Medical abortion is available in Canada on a limited basis using methotrexate, misoprostol, and mifepristone. Clinical trials were done in 2000 in various Canadian cities comparing methotrexate to mifepristone, after approbation by the federal government. While both drugs had overall similar results, mifepristone was found to act faster.[52] After years of trials and debates, RU-486 was approved for use in Canada when prescribed by doctors on July 29, 2015.[53]
### Access by province[edit]
In 2004, Dr. Henry Morgentaler launched a judicial battle against the New Brunswick government, seeking to have abortion recognized as a constitutional right under the Canadian Charter. In a review of Regulation 84-20 in 2014, the government eliminated the requirement for two physicians to certify the medical necessity of a procedure effective 1 January 2015. The amended regulation requires all abortions be performed in a hospital.[54]
Until 2004, Manitoba did not fund private abortion clinics. However, in July 2004 the province's only private abortion clinic was purchased by a non-profit organization, which then successfully sued the provincial government to pay for abortion procedures there. In December 2004, a Manitoba Justice ruled that the province must pay for all therapeutic abortions.[55] This was overruled in 2005 by the Manitoba Court of Appeal because the trial Justice should not have made a decision based on written documents only.[56] Leave to appeal to the Supreme Court of Canada was denied.[57] The same plaintiffs have launched a new court challenge to the government practice of not paying for therapeutic abortions outside hospitals.[58]
Quebec used to fund only in part abortions done in private facilities. A 2006 judgment concluded that this practice did not conform to the Act respecting the Régie de l'assurance maladie du Québec;[59] it was initially decided that abortion in private facilities would only be fully paid for if a woman could show that she attempted to obtain an abortion in the public system and could not obtain one.[60] In January 2008, the government decided to fund all abortions without any limitations.[61]
Access in British Columbia (BC) is governed by the Access to Abortion Services Act, which limits political demonstrations outside abortion-providing facilities, doctor's offices, and doctor's homes to set distances. Similarly, demonstrations are prohibited in certain "buffer zones" in Ontario under the Safe Access to Abortion Services Act. In British Columbia, somebody can have a medical abortion up until 63 days from the last period and a surgical abortion up until 9 weeks from the first day of the last period. CARE can provide late-term abortions in Vancouver up until the 25th week of pregnancy.[62] There are 6 abortion clinics throughout the province that can be accessed without a doctor referral and upwards of 30 hospitals that are required to perform abortions with a doctor’s referral.[63]
Saskatchewan was the last province to provide universal coverage for the medical abortion pill.[64]
In Alberta, abortion services are accessible in Edmonton and Calgary.[65]
In Nova Scotia, there is an abortion clinic in Halifax or someone needing an abortion can call the abortion helpline for other options throughout the province that may be closer to them.[66]
Prince Edward Island offers in province abortions up until 12 weeks and 6 days pregnant. After that limit, an out of province surgical abortion would have to be performed.[67]
On October 31 of 2018 universal coverage of medical abortions was announced in the Yukon. This medication is available in Whitehorse, Watson Lake, Haines Junction, and Dawson City to ensure that those who choose a medical abortion will have access to physicians for follow up appointments.[68]
Planned Parenthood Newfoundland and Labrador is the only sexual health clinic in the province.[69]
Northern Options for Women (abbreviated as NOW) provides both medical and surgical abortion services in the Northwest Territories and Nunavut.[70]
There are 9 regions in Ontario where abortion is available.[71]
The Abortion Rights and Coalition of Canada provides a detailed list of abortion clinics by province and the maximum gestational period that the clinic will provide abortion up to. The list of clinics is available in English (with the exclusion of Quebec, that information is in French) and there is also a PDF version of the list in Mandarin. This website also has other resources for those looking into getting an abortion in Canada, including where to go for financial support or for referrals.[71]
## Politics[edit]
As of 2020, all federally represented political parties in Canada, as well as their leaders, support continued legal abortion access in Canada. Elected Members of the Bloc Québécois, New Democratic Party, the Liberal Party of Canada, and the Green Party of Canada however, nearly universally support abortion rights, and MPs would be expected to vote against any hypothetical Bills that would restrict or limit abortion rights in any way.[72] While the Conservative Party of Canada has both members who favour abortion rights and members who oppose them (and has stated that members would be allowed to vote their conscience on any vote concerning abortion), traditionally, more Conservative members are against abortion.
The Conservative Party has had to wrestle with combining the conflicting social policies of its two predecessor parties, the moderate Progressive Conservative Party and the more right-wing Canadian Alliance, which merged in 2003. Many socially conservative Alliance supporters were angered at the prospect of Belinda Stronach, who favoured abortion rights, winning the leadership election in early 2004, while some Conservatives objected during the 2004 federal election to the new party's perceived openness to legislation that would restrict abortion rights. In the March 2005 policy convention, in a narrow vote, the party voted to not introduce legislation on the subject of abortion. (Members can still introduce private members bills on the issue.)
The Liberal Party, on the other hand, has a few anti-abortion members, but any potential new Liberal MPs have been told by their current leader that they will have to vote according to the party's abortion-rights policy, rather than according to their own views, when it comes to matters of abortion.[73] Liberal MP Paul Steckle introduced in June 2006 a bill[74] that if passed, would make abortion after 20 weeks gestation a criminal act. The bill has not been acted on since its introduction.
Although the issue of abortion rights has popped up from time to time in Federal elections as a wedge issue, the issue is consistently rated as a low priority for most Canadians. The Christian Heritage Party of Canada claims to be Canada's only stated anti-abortion federal political party, but has never had a member elected to parliament.
Motion 312 was introduced by Conservative MP Stephen Woodworth in 2012, calling for a House of Commons committee to determine when human life begins, but was defeated 203–91.[75]
On October 19, 2012, anti-abortion protester Patricia Maloney expressed concern over 491 cases of live-birth abortions between 2000 and 2009. The finding reported to Statistics Canada did not include detailed information on how long each fetus survived after removal or how many would have been possible to save. Further complicating the issue is the fact that Canada, unlike the United States, does not have a law confirming or denying the legal rights of a baby who survives abortion. On January 23, 2013, Conservative MPs Wladyslaw Lizon, Leon Benoit, and Maurice Vellacott wrote a letter requesting that the RCMP investigate how many of the 491 live-birth abortions meet the definition of homicide set forth in the Criminal Code.[76][77] When CBC and The Canadian Press used the phrase "investigate all abortions performed after 19 weeks gestation", Vellacott accused the media outlets of false reporting and acknowledged that abortion in Canada is fully legal.[78] The CBC / Canadian Press story was subsequently corrected.[76] The move drew approval from Dr. Eike-Henner Kluge, former director of ethics and legal affairs for the Canadian Medical Association, who said that doctors should "do the best [they] can for what is now a person in the eyes of the law". However, Dr. Douglas Black, president of the Society of Obstetricians and Gynaecologists, said that the situation is not one of homicide, but rather allowing fetuses "to pass away, depending on what the circumstances are, sometimes in their mom's arms".[77]
## Opinion polls[edit]
Main article: Societal attitudes towards abortion
* In a Léger poll taken September 2001, 46.6% of respondents say they are personally "for" abortion, while 37.6% say they are personally "against" abortion. In the same poll, 54.5% of respondents agreed with the idea that "only women should have the right to decide to have an abortion", while 38.5% disagreed.
* A Gallup poll in December 2001 asked respondents: "Do you think abortions should be legal under any circumstances, legal only under certain circumstances, or illegal in all circumstances, and in what circumstances?" The results showed that 32% of Canadians believed abortion should be legal in all circumstances (down from 37% in 2000), 52% believed abortion should only be legal in certain circumstances, and 14% thought abortions should be illegal in all circumstances, (up 9% from 2000).
* In a Léger poll taken January 2002, 47% of respondents said abortion was "not immoral", while 41.8% said it was.
* In a poll conducted by the National Post in November 2002, 78% of respondents answered "yes" to the question: "Should women have complete freedom on their decision to have an abortion?".[79]
* A poll in October 2003 conducted by Leger asked about pre-natal legal protection, and several abortion-related topics; 63% said they favoured legal protection for human life before birth, and 69% favour informed consent legislation on abortion.
* In a Gallup Canada poll taken September 2004, 54% of respondents said they personally thought abortion was "morally acceptable".
* In a Gallup Canada poll taken April 2005, 52% of respondents say they would like to see Canadian abortion laws "remain the same", 20% say they would like the laws to be "less strict", while 24% say they would like the laws to be "more strict".
* In an October 2005 Environics poll, commissioned by Life Canada, when asked, "At what point in human development should the law protect human life?", 30% of respondents said "From conception on", 19% said "After three months of pregnancy", 11% said "After six months of pregnancy", and 33% said "From the point of birth".
* In an April 2006 Leger poll, 34% of respondents said they found abortion "immoral", behind paedophilia, extramarital affairs, prostitution, alcohol abuse, sexual relations before the age of 16, pornographic films, and blasphemy.[80]
* In a June 2008 Angus Reid Strategies poll, almost half of respondents (46%) believe abortion should be permitted in all cases. Roughly one-in-five Canadians (19%) would subject abortion to greater restrictions than now, 22 percent would allow the procedure only in cases such as rape, incest and to save the woman's life, and seven percent would only permit abortion to save the woman's life. Among provinces, British Columbia and Quebec have the highest percentage who are supporting abortion-rights, and the Prairies have the highest percentage who are anti-abortion and younger, wealthier, and university-educated respondents are more likely to uphold the legality of abortion.[81]
* In a March 2010 EKOS poll, a majority of Canadians (52%) describe themselves as "pro-choice" while just over one in four (27%) describe themselves as "pro-life". One in ten respondents (10%) describe themselves as neither "pro-choice" nor "pro-life", and 11% did not respond.[82]
* In an IPSOS poll conducted in 2017, 77% said abortions should be permitted, which is higher than the global average of 71%.[83] A majority of Canadians (53%) said abortion should be permitted whenever a woman decides she wants to abort, while 24% favoured access under only some circumstances, such as when a woman has been raped.[83] A further 7% believed that abortion should only be permitted when a woman's life is in danger, and 5% believed the procedure should be illegal under any circumstance; 11% said they were unsure.[83]
* In a 2020 DART & Maru/Blue Voice Canada poll, 75% of Canadians said they were “satisfied” with Canada’s abortion policies and 25% were not satisfied.[84] The strongest satisfaction was found in Québec (85%), followed by British Columbia (75%), Ontario (72%), Alberta (70%), Atlantic Canada (68%), and Manitoba and Saskatchewan (70%).[85] Satisfaction with Canada's policies were nearly identical across gender and age groups, with slightly higher favourability amongst middle and high-income Canadians as compared with those earning less than CDN$50,000 (78% vs. 74%).[85] In the poll, 71% of Canadians said that the government should not re-open the issue, and just 10% said they should re-open it; 8% professed indifference.[85] Canadians were almost equally split on whether they thought the government should even discuss creating a regulatory framework for abortion.[85] 70% of Canadians said they found abortion acceptable, vs. 10% who found it unacceptable; 11% professed indifference, and 10% said they didn't know.[85]
* In a 2020 IPSOS poll, support for abortion rights were slightly stronger than in 2017: 59% of Canadians said that abortion should be permitted whenever a woman wants one, with 18% saying it should only be permitted under limited circumstances (such as after rape), and 6% saying it should only be legal if the mother's life were in danger; just 4% said it should not be legal under any circumstances, while 13% either said they didn't know or that they preferred not to express an opinion.[86]
## Abortion rights movement[edit]
The abortion rights movement in Canada focuses on establishing abortion as a component of provincial health care plans, to ensure it is available in all regions, especially for those who couldn't afford it otherwise.
Dr. Henry Morgentaler was widely seen as the one individual personifying the Canadian abortion rights movement, but organizations such as the Canadian Abortion Rights Action League (CARAL), Canadians for Choice, and the Pro-Choice Action Network also contributed significantly to advancing the abortion rights movement in Canada. CARAL folded, and has been replaced by the Abortion Rights Coalition of Canada, whose focus is on the objectives mentioned above. Feminist or pro-feminism organizations also contribute to promote the abortion rights approach.
The Canadian affiliate of Planned Parenthood, now known as the Canadian Federation for Sexual Health, is also in favor of abortion rights, and while it does refer pregnant women to abortion providers, it does not have a history (unlike its American counterpart) of engaging in widespread litigation in favour of legalized abortion.
## Anti-abortion movement[edit]
National March for Life in Ottawa, Ontario, in 2010
The anti-abortion movement disapproves of the lack of legal restrictions on abortion in Canada, and of abortions being funded by provincial health care programs,[87] even if the abortion is not for therapeutic reasons. A medical reason for obtaining an abortion is no longer required in Canada (except in Prince Edward Island) since the 1988 removal of abortion from the Criminal Code.[88][89]
The pro life movement in Canada is represented by the Catholic Church, The Wilberforce Project,[90] Campaign Life Coalition, REAL Women of Canada, We Need A Law,[91] Abortion in Canada,[92] Action Life (Ottawa), Inc.,[93] among other organizations.
## Attacks on doctors who perform abortions[edit]
Further information: Abortion related violence
* In 1983, Henry Morgentaler was attacked by a man wielding garden shears; the attack was blocked by feminist activist Judy Rebick, who was standing nearby.[94]
* In 1992, Morgentaler's Toronto clinic was firebombed and sustained severe damage. The event occurred at night, so no one was injured, although a nearby bookstore was damaged. Appointments were switched to another clinic in Toronto and no abortions were prevented.[95]
* On November 8, 1994, Vancouver doctor Garson Romalis was shot in the leg.[96]
* On November 10, 1995, Dr. Hugh Short of Ancaster, Ontario was shot in the elbow.[96]
* On November 11, 1997, Dr. Jack Fainman of Winnipeg was shot in the shoulder.[96]
* On July 11, 2000, Dr. Romalis was stabbed by an unidentified assailant in the lobby of his clinic.[97]
## See also[edit]
Canada portal
Feminism portal
* Eastview Birth Control Trial
* History of Canadian women
* Human rights in Canada
* R. v. Morgentaler (1993)
* Women's suffrage in Canada
## References[edit]
1. ^ a b J. Cherie Strachan; Lori M. Poloni-Staudinger; Shannon Jenkins; Candice D. Ortbals (2019). Why Don't Women Rule the World?: Understanding Women's Civic and Political Choices. SAGE Publications. p. 115. ISBN 978-1-5443-1727-4.
2. ^ Naciones Unidas. Departamento de Asuntos Económicos y Sociales. División de Población (2001). Abortion Policies: Afghanistan to France. United Nations Publications. p. 84. ISBN 978-92-1-151351-6.
3. ^ Christine Ammer; JoAnn E. Manson (February 2009). The Encyclopedia of Women's Health. Infobase Publishing. p. 7. ISBN 978-0-8160-7407-5. Retrieved November 28, 2011.
4. ^ Neil F. Sharpe; Ronald F. Carter (January 30, 2006). Genetic testing: care, consent, and liability. John Wiley and Sons. p. 206. ISBN 978-0-471-64987-8. Retrieved November 28, 2011.
5. ^ a b Victoria Bromley (2012). Feminisms Matter: Debates, Theories, Activism. University of Toronto Press. pp. 26–32. ISBN 978-1-4426-0502-2.
6. ^ a b c d Radha Jhappan (2002). Women's Legal Strategies in Canada. University of Toronto Press. pp. 335–. ISBN 978-0-8020-7667-0.
7. ^ "Statistics – Abortion in Canada" (PDF). Retrieved April 14, 2016.
8. ^ "Statistics - Abortion in Canada" (PDF). Abortion Rights Coalition of Canada - Statistics Canada. 2019.
9. ^ Sonnen, Natalie. "Canada hides from it's embarrassing abortion statistics". National Post.
10. ^ a b Stephanie Paterson (June 2014). Fertile Ground: Exploring Reproduction in Canada. MQUP. p. 234. ISBN 978-0-7735-9212-4.
11. ^ Criminal Code, SC 1953-54, c. 51, s. 237(1),(2). Section 237(1) provided: "Every one who, with intent to procure the miscarriage of a female person, whether or not she is pregnant, uses any means for the purpose of carrying out his intention is guilty of an indictable offence and liable to imprisonment for life."
12. ^ Constance B. Backhouse, "The Celebrated Abortion Trial of Dr. Emily Stowe, Toronto, 1879", Canadian Bulletin of Medical History/Bulletin canadien d'histoire de la médecine, Volume 8: 1991, pages 159–187.
13. ^ Azoulay v. The Queen, [1952] 2 S.C.R. 495.
14. ^ "Three decades of choice: Canada's landmark abortion law is 30 years old tomorrow." Marilyn Wilson. The Gazette May 13, 1999. pg. B.3
15. ^ a b Shulman, Morton. Coroner, pp 58–61 Fitzhenry & Whiteside, 1975.
16. ^ a b Kaevan Gazdar (2016). Feminism's Founding Fathers: The Men Who Fought for Women's Rights. John Hunt Publishing. p. 148. ISBN 978-1-78099-161-0.
17. ^ a b I. Morgan; P. Davies (2008). The Federal Nation: Perspectives on American Federalism. Springer. p. 227. ISBN 978-0-230-61725-4.
18. ^ Shannon Stettner; Kristin Burnett; Travis Hay (December 1, 2017). Abortion: History, Politics, and Reproductive Justice after Morgentaler. UBC Press. pp. 76–. ISBN 978-0-7748-3576-3.
19. ^ Trudeau's Omnibus Bill: Challenging Canadian Taboos (TV clip). Canada: CBC. December 21, 1967.
20. ^ Criminal Law Amendment Act, 1968–69, SC 1968-69, c. 38.
21. ^ Criminal Code, RSC 1970, c. C-34, s. 251.
22. ^ "ROBIN BADGLEY Obituary - Toronto, ON | Toronto Star".
23. ^ Dunsmuir, Mollie. Abortion: Constitutional and Legal Developments, Section D: The Badgley Report. Government of Canada, Law and Government Division.
24. ^ a b "Abortions more difficult to obtain, groups say Women must travel, borrow for procedure." Ann Rauhala. The Globe and Mail. Toronto, Ont.: January 30, 1987. pg. A.1
25. ^ a b "Abortion access widely varies across Canada." Joan Bryden. The Ottawa Citizen. January 30, 1988. pg. B.6
26. ^ "Continue clinic abortions despite law, group urges." The Globe and Mail. March 17, 1982. pg. P.8
27. ^ Nancy Lewis; Isabel Dyck; Sara McLafferty (2001). Geographies of Women's Health: Place, Diversity and Difference. SUNY Press. pp. 92–94. ISBN 978-0-203-18602-2.
28. ^ Robin Stevenson (2019). My Body My Choice: The Fight for Abortion Rights. Orca Book Publishers. p. 72. ISBN 978-1-4598-1714-2.
29. ^ Morgentaler v The Queen, [1976] 1 SCR 616.
30. ^ Now found in the Criminal Code, RSC 1985, c. C-46, s. 686(4)(b).
31. ^ Marian Sawer (June 24, 2008). Women's movements: flourishing or in abeyance?. Psychology Press. p. 54. ISBN 978-0-415-46245-7. Retrieved November 28, 2011.
32. ^ R. v. Morgentaler, [1988] 1 S.C.R. 30.
33. ^ R v Morgentaler, p. 63.
34. ^ R v Morgentaler, p. 173.
35. ^ R v Morgentaler, pp. 65-66.
36. ^ R v Morgentaler, pp. 66-72.
37. ^ "Abortion motions rejected. Govt. given little help on new law." Stephen Bindman. The Ottawa Citizen. July 29, 1988. pg. A.1.FRO
38. ^ "Silence broken: PM is opposed to abortion on demand." Heather Bird. Toronto Star. August 3, 1988. pg. A.1
39. ^ "PM, Opposition leader vague on abortion law." Portia Priegert. The Vancouver Sun. October 26, 1988. pg. B.4
40. ^ "Turner admits abortion bill may be 'best we can get'" Iain Hunter. The Ottawa Citizen. November 9, 1989. pg. A.1.FRO
41. ^ "Abortion law passes by nine votes amid protests." Peggy Curran. The Gazette. May 30, 1990. pg. A.1.FRO
42. ^ "Twenty years ago: Woman dies after performing abortion". Toronto Star. June 13, 1990. Retrieved December 14, 2012.. A 20-year-old Toronto woman has died after performing an abortion on herself, probably with a coat hanger, police say. Yvonne Jurewicz of Westminster Ave. was found dead Monday night in her west-end apartment. An autopsy performed yesterday revealed Jurewicz bled to death after aborting, said Detective Sergeant Thomas Imrie, who is heading the investigation.
43. ^ "Hansard -- Tuesday, June 26, 1990 -- Morning Sitting". Legislative Assembly of British Columbia. Hansard Services. Retrieved July 14, 2019.
44. ^ Personal communication, Deborah Grey, December 1990.
45. ^ "Ontario Hansard, 13 June 1990, Oral Questions, Abortion". Ontario Hansard. June 13, 1990. Retrieved December 14, 2012.
46. ^ "Bill's loss may be blessing for Tories." Joan Ramsay. The Ottawa Citizen. February 2, 1991. pg. A.7
47. ^ [1991] 1 SCR 489.
48. ^ Tremblay v. Daigle, [1989] 2 S.C.R. 530.
49. ^ Dobson (Litigation Guardian of) v. Dobson, [1999] 2 S.C.R. 753.
50. ^ Kamloops v. Nielsen, [1984] 2 S.C.R. 2.
51. ^ [I997] 3 S.C.R. 925.
52. ^ Results of the Canadian trials of RU486, the 'Abortion Pill'. (n.d.). Retrieved 2006-12-08.
53. ^ "RU-486 abortion pill approved by Health Canada". CBC News. July 30, 2015. Retrieved August 4, 2015.
54. ^ "New Brunswick abortion restriction lifted by Premier Brian Gallant". CBC News. November 26, 2014. Retrieved February 2, 2018.
55. ^ Doe et al v. Manitoba, 2004 MBQB 285 Canlii.org
56. ^ Doe et al v. Manitoba, 2005 MBCA 109 Canlii.org
57. ^ Jane Doe 1 and Jane Doe 2, on their own behalf, and on behalf of certain pregnant women who are insured persons pursuant to the Health Services Insurance Act, R.S.M. 1987, c. H35, and who require access to therapeutic abortion services v. Government of Manitoba, 2006 CanLII 5401 (S.C.C.) Canlii.org
58. ^ Jane Doe 1 and Jane Doe 2 v. Manitoba (The Government of), 2008 MBQB 217 Canlii.org
59. ^ "Jugements.qc.ca". Jugements.qc.ca. Retrieved March 10, 2011.
60. ^ "Radio-canada.ca". Radio-canada.ca. Retrieved March 10, 2011.
61. ^ Cyberpresse.ca
62. ^ "Abortion Services". www.bcwomens.ca. Retrieved October 16, 2020.
63. ^ "THE PRO-CHOICE ACTION NETWORK". www.prochoiceactionnetwork-canada.org. Retrieved October 16, 2020.
64. ^ "Sask. to provide universal coverage for abortion pill Mifegymiso". CBC News. Retrieved October 16, 2020.
65. ^ Services, Alberta Health. "Abortion Services". Alberta Health Services. Retrieved October 16, 2020.
66. ^ "Nova Scotia Women's Choice Clinic | Nova Scotia Health Authority". www.nshealth.ca. Retrieved October 16, 2020.
67. ^ Toolkit, Web Experience (January 31, 2018). "Abortion Services". www.princeedwardisland.ca. Retrieved October 16, 2020.
68. ^ "Medical abortion now universally covered in the Yukon". Yukon News. November 2, 2018. Retrieved October 16, 2020.
69. ^ "Clinics". Planned Parenthood - NL Sexual Health Centre. Retrieved October 16, 2020.
70. ^ Authority, Health and Social Services. "Northern Options for Women (NOW)". www.nthssa.ca. Retrieved October 16, 2020.
71. ^ a b Arthur, Joyce. "List of Abortion Clinics in Canada (and some hospitals)". Abortion Rights Coalition of Canada. Retrieved October 16, 2020.
72. ^ "Anti-abortion Candidates need not apply". MSN. Archived from the original on May 30, 2014. Retrieved June 28, 2014.
73. ^ Mas, Susana (November 28, 2014). "Justin Trudeau says Filomena Tassi agreed to vote pro-choice if elected in 2015". CBC News. Retrieved September 12, 2020.
74. ^ LEGISinfo, Bill C-338, 39th Parliament, 1st Session, Parl.gc.ca Archived July 14, 2006, at the Wayback Machine, Accessed September 29, 2006.
75. ^ "Motion 312: How MPs And Ministers Voted". The Huffington Post Canada. Retrieved October 2, 2012.
76. ^ a b The Canadian Press (January 31, 2013). "Investigate some abortions as homicides, Tory MPS ask RCMP". CBC. Retrieved May 26, 2013.
77. ^ a b Tristin, Hopper (February 1, 2013). "Birth of a legal quandry[sic]: Live-birth abortions a perilous grey zone in Canada's criminal code". The National Post. Retrieved May 26, 2013.
78. ^ Vellacott, Maurice (January 23, 2013). "Letter to RCMP commissioner to investigate born alive babies" (PDF). Archived from the original (PDF) on October 6, 2013. Retrieved May 30, 2013.
79. ^ Arthur, Joyce (2002). "How to interpret polls on abortion". Pro-choice Action Network. Retrieved May 26, 2013.
80. ^ "Angus-reid.com". Angus-reid.com. Archived from the original on August 13, 2007. Retrieved March 10, 2011.
81. ^ AngusReid Strategies (June 20, 2008). "Canadians Uphold Abortion Policy, Split on Health Care System's Role" (PDF). Archived from the original (PDF) on January 22, 2013. Retrieved July 4, 2009.
82. ^ EKOS Research Associates (April 1, 2010). "Canadians Decisively Pro-Choice on Abortion" (PDF). Archived (PDF) from the original on April 15, 2010. Retrieved May 3, 2010.
83. ^ a b c "Majority Continue to Support (77%) Abortion in Canada, But Behind Sweden (87%), Belgium (87%) and France (86%)". Ipsos. Retrieved April 4, 2020.
84. ^ Kirkey, Sharon (January 31, 2020). "As abortion debate becomes increasingly polarized, poll shows the views of many Canadians are more complicated | National Post". National Post. Retrieved April 4, 2020.
85. ^ a b c d e DART & Maru/Blue (February 1, 2020). "Abortion: A Canadian Public Perspective After Three Decades. A DART & Maru/Blue Voice Canada Pol" (PDF). DART Insight and Communications. Retrieved August 31, 2020.
86. ^ Ipsos (August 17, 2020). "Globally, seven in ten adults favor allowing abortion". IPSOS. Retrieved August 31, 2020.
87. ^ "CLCNS.com". CLCNS.com. Retrieved March 10, 2011.
88. ^ "Statcan.gc.ca". Statcan.gc.ca. August 21, 2009. Retrieved March 10, 2011.
89. ^ "Abortionincanada.ca". Abortionincanada.ca. Retrieved March 10, 2011.
90. ^ Sites For Life - www.sitesforlife.com. "Albertaprolife.com". Albertaprolife.com. Archived from the original on February 3, 2011. Retrieved March 10, 2011.
91. ^ "Home". We Need A Law.
92. ^ "AbortionInCanada.ca". AbortionInCanada.ca. Retrieved March 10, 2011.
93. ^ "Actionlife.org". Actionlife.org. Retrieved March 10, 2011.
94. ^ "Vueweekly.com". Vueweekly.com. January 23, 2008. Archived from the original on January 4, 2010. Retrieved March 10, 2011.
95. ^ "CBC.ca". CBC.ca. May 21, 2009. Retrieved March 10, 2011.
96. ^ a b c "Violence and harassment at U.S. abortion clinics." ReligiousTolerance.org.
97. ^ "AMERICAS | Canada abortion doctor stabbed". BBC News. July 13, 2000. Retrieved March 10, 2011.
## Further reading[edit]
* Rachael Johnstone (September 15, 2017). After Morgentaler: The Politics of Abortion in Canada. UBC Press. ISBN 978-0-7748-3441-4.
* Raymond Tatalovich (May 20, 2015). The Politics of Abortion in the United States and Canada: A Comparative Study: A Comparative Study. Taylor & Francis. ISBN 978-1-317-45538-7.
* Shannon Stettner (August 26, 2016). Without Apology: Writings on Abortion in Canada. Athabasca University Press. ISBN 978-1-77199-159-9.
## External links[edit]
* Supreme Court case of R v. Morgentaler
* Supreme Court case of Tremblay v. Daigle
* Leger Poll from September 2001
* Leger Poll from January 2002
* Richer, Karine. Abortion in Canada: Twenty years after R. v. Morgentaler. Parliament of Canada, Law and Government Division. PRB-08-22E.
* Dunsmuir, Mllie Abortion: Constitutional and Legal Developments. Government of Canada. 89-10E.
* List of abortion clinics in Canada at the Abortion Rights Coalition of Canada
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[KOR]: κ-opioid receptor
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
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*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
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*[transl.]: translation
*[α2δ]: alpha2delta subunit
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*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
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| Abortion in Canada | None | 28,704 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Canada | 2021-01-18T18:44:19 | {"wikidata": ["Q4668451"]} |
Juvenile Paget disease is a very rare condition that affects bone growth. This condition causes bones to be abnormally large, misshapen, and easily broken (fractured). Signs and symptoms usually appear in infancy or early childhood. As bones grow, they become weaker and more deformed. This condition affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The condition also affects bones of the spine (vertebrae), leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking. Juvenile Paget disease is caused by mutations in the TNFRSF11B gene and is inherited in an autosomal recessive fashion.
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Juvenile Paget disease | c0268414 | 28,705 | gard | https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease | 2021-01-18T17:59:39 | {"mesh": ["C537701"], "omim": ["239000"], "orphanet": ["2801"], "synonyms": ["JPD", "Hyperostosis corticalis deformans juvenilis", "Hyperphosphatasia, familial idiopathic", "Hyperphosphatasemia, chronic congenital idiopathic", "Paget disease juvenile type", "Paget disease of bone 5, juvenile-onset", "Hereditary hyperphosphatasia", "Hyperostosid corticalis deformans juvenilis", "JPG", "Juvenile Pagets disease"]} |
Disease caused by parasites of the Leishmania type
This article is about human leishmaniasis. For the disease in canids, see canine leishmaniasis.
Leishmaniasis
Other namesLeishmaniosis
Cutaneous leishmaniasis in the hand of a Central American adult
Pronunciation
* Leishmaniasis /ˌliːʃməˈnaɪəsɪs/
leishmaniosis /liːʃˌmeɪniˈoʊsɪs, -ˌmæni-/[1]
SpecialtyInfectious disease
SymptomsSkin ulcers, fever, low red blood cells, enlarged liver[2][3]
CausesLeishmania parasites spread by sandflies[2]
PreventionBug nets, insecticide[2]
Frequency4–12 million[4][5]
Deaths24,200 (2015)[6]
Leishmaniasis is a disease caused by parasites of the Leishmania type.[2] It is spread by the bite of certain types of sandflies, and occurs most frequently in the tropics and sub-tropics of Africa, Asia, the Americas, and southern Europe.[2] The disease can present in three main ways: cutaneous, mucocutaneous, or visceral.[2] The cutaneous form presents with skin ulcers, while the mucocutaneous form presents with ulcers of the skin, mouth, and nose. The visceral form starts with skin ulcers and later presents with fever, low count of red blood cells, and enlarged spleen and liver.[2][3]
Infections in humans are caused by more than 20 species of Leishmania.[2] Risk factors include poverty, malnutrition, deforestation, and urbanization.[2] All three types can be diagnosed by seeing the parasites under microscopy.[2] Additionally, visceral disease can be diagnosed by blood tests.[3]
Leishmaniasis can be partly prevented by sleeping under nets treated with insecticide.[2] Other measures include spraying insecticides to kill sandflies and treating people with the disease early to prevent further spread.[2] The treatment needed is determined by where the disease is acquired, the species of Leishmania, and the type of infection.[2] Some possible medications used for visceral disease include liposomal amphotericin B,[7] a combination of pentavalent antimonials and paromomycin,[7] and miltefosine.[8] For cutaneous disease, paromomycin, fluconazole, or pentamidine may be effective.[9]
About 4 to 12 million people are currently infected[4][5] in some 98 countries.[3] About 2 million new cases[3] and between 20 and 50 thousand deaths occur each year.[2][10] About 200 million people in Asia, Africa, South and Central America, and southern Europe live in areas where the disease is common.[3][11] The World Health Organization has obtained discounts on some medications to treat the disease.[3] It is classified as a neglected tropical disease.[12] The disease may occur in a number of other animals, including dogs and rodents.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Vector
* 2.2 Organisms
* 2.3 Risk factors
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 Society and culture
* 9 Research
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Cutaneous leishmaniasis ulcer
The symptoms of leishmaniasis are skin sores which erupt weeks to months after the person is bitten by infected sand flies.
Leishmaniasis may be divided into the following types:[13]
* Cutaneous leishmaniasis is the most common form, which causes an open sore at the bite sites, which heals in a few months to a year and half, leaving an unpleasant-looking scar.[2][3] Diffuse cutaneous leishmaniasis produces widespread skin lesions which resemble leprosy, and may not heal on its own.[3]
* Mucocutaneous leishmaniasis causes both skin and mucosal ulcers with damage primarily of the nose and mouth.[2][3]
* Visceral leishmaniasis or kala-azar ('black fever') is the most serious form, and is generally fatal if untreated.[2] Other consequences, which can occur a few months to years after infection, include fever, damage to the spleen and liver, and anemia.[2]
Leishmaniasis is considered one of the classic causes of a markedly enlarged (and therefore palpable) spleen; the organ, which is not normally felt during examination of the abdomen, may even become larger than the liver in severe cases.
## Cause[edit]
Lifecycle of Leishmania
Leishmaniasis is transmitted by the bite of infected female phlebotomine sandflies[2] which can transmit the protozoa Leishmania.[2] (1) The sandflies inject the infective stage, metacyclic promastigotes, during blood meals. (2) Metacyclic promastigotes in the puncture wound are phagocytized by macrophages, and (3) transform into amastigotes. (4) Amastigotes multiply in infected cells and affect different tissues, depending in part on the host, and in part on which Leishmania species is involved. These differing tissue specificities cause the differing clinical manifestations of the various forms of leishmaniasis. (5,6) Sandflies become infected during blood meals on infected hosts when they ingest macrophages infected with amastigotes. (7) In the sandfly's midgut, the parasites differentiate into promastigotes, (8) which multiply, differentiate into metacyclic promastigotes, and migrate to the proboscis.
The genomes of three Leishmania species (L. major, L. infantum, and L. braziliensis) have been sequenced, and this has provided much information about the biology of the parasite. For example, in Leishmania, protein-coding genes are understood to be organized as large polycistronic units in a head-to-head or tail-to-tail manner; RNA polymerase II transcribes long polycistronic messages in the absence of defined RNA pol II promoters, and Leishmania has unique features with respect to the regulation of gene expression in response to changes in the environment. The new knowledge from these studies may help identify new targets for urgently needed drugs and aid the development of vaccines.[14]
### Vector[edit]
Although most of the literature mentions only one genus transmitting Leishmania to humans (Lutzomyia) in the New World, a 2003 study by Galati suggested a new classification for New World sand flies, elevating several subgenera to the genus level. Elsewhere in the world, the genus Phlebotomus is considered the vector of leishmaniasis.[14]
### Organisms[edit]
Visceral disease is usually caused by Leishmania donovani, L. infantum, or L. chagasi,[3] but occasionally these species may cause other forms of disease.[3] The cutaneous form of the disease is caused by more than 15 species of Leishmania.[3]
### Risk factors[edit]
Risk factors include poverty, malnutrition, deforestation, lack of sanitation, suppressed immune system and urbanization.[2]
## Diagnosis[edit]
Bone marrow aspirate smear: visceral leishmaniasis
Leishmaniasis is diagnosed in the hematology laboratory by direct visualization of the amastigotes (Leishman–Donovan bodies). Buffy-coat preparations of peripheral blood or aspirates from marrow, spleen, lymph nodes, or skin lesions should be spread on a slide to make a thin smear and stained with Leishman stain or Giemsa stain (pH 7.2) for 20 minutes. Amastigotes are seen within blood and spleen monocytes or, less commonly, in circulating neutrophils and in aspirated tissue macrophages. They are small, round bodies 2–4 μm in diameter with indistinct cytoplasm, a nucleus, and a small, rod-shaped kinetoplast. Occasionally, amastigotes may be seen lying free between cells.[15] However, the retrieval of tissue samples is often painful for the patient and identification of the infected cells can be difficult. So, other indirect immunological methods of diagnosis are developed, including enzyme-linked immunosorbent assay, antigen-coated dipsticks, and direct agglutination test. Although these tests are readily available, they are not the standard diagnostic tests due to their insufficient sensitivity and specificity.
Several different polymerase chain reaction (PCR) tests are available for the detection of Leishmania DNA.[3] With this assay, a specific and sensitive diagnostic procedure is finally possible. The most sensitive PCR tests use minicircle kinetoplast DNA found in the parasite. Kinetoplast DNA contains sequences for mitochondrial proteins in its maxicircles(~25-50 per parasite), and guide RNA in its minicircles(~10'000 per parasite) of the kinetoplast. With this specific method, one can still detect Leishmania even with a very low parasite load. When needing to diagnose a specific species of Leishmania, as opposed to only detection, other PCR methods have been superior.[16]
Most forms of the disease are transmitted only from nonhuman animals, but some can be spread between humans. Infections in humans are caused by about 21 of 30 species that infect mammals;[17] the different species look the same, but they can be differentiated by isoenzyme analysis, DNA sequence analysis, or monoclonal antibodies.
## Prevention[edit]
* Using insecticide can reduce phlebotomine sandfly numbers which in turn reduces the risk of cutaneous leishmaniasis infection.[18]
* Leishmaniasis can be partly prevented by using nets treated with insecticide while sleeping.[2] To provide good protection against sandflies, fine mesh sizes of 0.6 mm or less are required, but a mosquito net with 1.2mm mesh will provide a limited reduction in the number of sandfly bites.[19] Finer mesh sizes have the downside of higher cost and reduced air circulation which can cause overheating. Many Phlebotomine sandfly attacks occur at sunset rather than at night, so it may also be useful to put nets over doors and windows or to use insect repellents.
* Use of insecticide-impregnated dog collars and treatment or culling of infected dogs.
* Spraying houses and animal shelters with insecticides.[19]
## Treatment[edit]
Paromomycin is an inexpensive (US$10) and effective treatment for leishmaniasis.
The treatment is determined by where the disease is acquired, the species of Leishmania, and the type of infection.[2] For visceral leishmaniasis in India, South America, and the Mediterranean, liposomal amphotericin B is the recommended treatment and is often used as a single dose.[3][7] Rates of cure with a single dose of amphotericin have been reported as 95%.[3] In India, almost all infections are resistant to pentavalent antimonials.[3] In Africa, a combination of pentavalent antimonials and paromomycin is recommended.[7] These, however, can have significant side effects.[3] Miltefosine, an oral medication, is effective against both visceral and cutaneous leishmaniasis.[8] Side effects are generally mild, though it can cause birth defects if taken within 3 months of getting pregnant.[3][8] It does not appear to work for L. major or L. braziliensis.[9]
The evidence around the treatment of cutaneous leishmaniasis is poor.[3] A number of topical treatments may be used for cutaneous leishmaniasis. Which treatments are effective depends on the strain, with topical paromomycin effective for L. major, L. tropica, L. mexicana, L. panamensis, and L. braziliensis.[9] Pentamidine is effective for L. guyanensis.[9] Oral fluconazole or itraconazole appears effective in L. major and L. tropica.[3][9] There is limited evidence to support the use of heat therapy in cutaneous leishmaniasis as of 2015.[20]
There are no studies determining the effect of oral nutritional supplements on visceral leishmaniasis being treated with anti-leishmanial drug therapy.[21]
## Epidemiology[edit]
Cutaneous leishmaniasis in North Africa; Leishmania infantum = green, Leishmania major = blue, Leishmania tropica = red[22]
Disability-adjusted life year for leishmaniasis per 100,000 inhabitants.
no data
less than 20
20–30
30–40
40–50
50–60
60–70
70–80
80–100
100–120
120–150
150–200
more than 200
Out of 200 countries and territories reporting to WHO, 97 countries and territories are endemic for leishmaniasis.[23] The settings in which leishmaniasis is found range from rainforests in Central and South America to deserts in western Asia and the Middle East. It affects as many as 12 million people worldwide, with 1.5–2.0 million new cases each year.[24] The visceral form of leishmaniasis has an estimated incidence of 500,000 new cases.[25] In 2014, more than 90% of new cases reported to WHO occurred in six countries: Brazil, Ethiopia, India, Somalia, South Sudan and Sudan.[26] As of 2010, it caused about 52,000 deaths, down from 87,000 in 1990.[10] Different types of the disease occur in different regions of the world.[2] Cutaneous disease is most common in Afghanistan, Algeria, Brazil, Colombia, and Iran, while mucocutaneous disease is most common in Bolivia, Brazil, and Peru, and visceral disease is most common in Bangladesh, Brazil, Ethiopia, India, and Sudan.[2]
Leishmaniasis is found through much of the Americas from northern Argentina to South Texas, though not in Uruguay or Chile, and has recently been shown to be spreading to North Texas and Oklahoma,[27][28] and further expansion to the north may be facilitated by climate change as more habitat becomes suitable for vector and reservoir species for leishmaniasis.[29] Leishmaniasis is also known as papalomoyo, papa lo moyo, úlcera de los chicleros, and chiclera in Latin America.[30] During 2004, an estimated 3,400 troops from the Colombian army, operating in the jungles near the south of the country (in particular around the Meta and Guaviare departments), were infected with leishmaniasis. Allegedly, a contributing factor was that many of the affected soldiers did not use the officially provided insect repellent because of its disturbing odor. Nearly 13,000 cases of the disease were recorded in all of Colombia throughout 2004, and about 360 new instances of the disease among soldiers had been reported in February 2005.[31]
The disease is found across much of Asia, and in the Middle East. Within Afghanistan, leishmaniasis occurs commonly in Kabul, partly due to bad sanitation and waste left uncollected in streets, allowing parasite-spreading sand flies an environment they find favorable.[32][33] In Kabul, the number of people infected was estimated to be at least 200,000, and in three other towns (Herat, Kandahar, and Mazar-i-Sharif) about 70,000 more occurred, according to WHO figures from 2002.[34][35] Kabul is estimated as the largest center of cutaneous leishmaniasis in the world, with around 67,500 cases as of 2004.[36] Africa, in particular the East and North,[22] is also home to cases of leishmaniasis. Leishmaniasis is considered endemic also in some parts of southern parts of western Europe and spreading towards north in recent years.[37] For example, an outbreak of cutaneous and visceral leishmaniasis was reported from Madrid, Spain, between 2010 and 2012.[38]
Leishmaniasis is mostly a disease of the developing world, and is rarely known in the developed world outside a small number of cases, mostly in instances where troops are stationed away from their home countries. Leishmaniasis has been reported by U.S. troops stationed in Saudi Arabia and Iraq since the Gulf War of 1990, including visceral leishmaniasis.[39][40][41] In September 2005, the disease was contracted by at least four Dutch marines who were stationed in Mazar-i-Sharif, Afghanistan, and subsequently repatriated for treatment.[42][43]
## History[edit]
A 1917 case of cutaneous leishmaniasis in the Middle East, known then locally as "Jericho buttons" for the frequency of cases near the ancient city of Jericho
Descriptions of conspicuous lesions similar to cutaneous leishmaniasis appear on tablets from King Ashurbanipal from the seventh century BCE, some of which may have derived from even earlier texts from 1500 to 2500 BCE. Persian physicians, including Avicenna in the 10th century CE, gave detailed descriptions of what was called balkh sore.[44] In 1756, Alexander Russell, after examining a Turkish patient, gave one of the most detailed clinical descriptions of the disease. Physicians in the Indian subcontinent would describe it as kala-azar (pronounced kālā āzār, the Urdu, Hindi, and Hindustani phrase for "black fever", kālā meaning black and āzār meaning fever or disease). In the Americas, evidence of the cutaneous form of the disease in Ecuador and Peru appears in pre-Inca pottery depicting skin lesions and deformed faces dating back to the first century CE. Some 15th- and 16th-century texts from the Inca period and from Spanish colonials mention "valley sickness", "Andean sickness", or "white leprosy", which are likely to be the cutaneous form.[45]
It remains unclear who first discovered the organism. David Douglas Cunningham, Surgeon Major of the British Indian army, may have seen it in 1885 without being able to relate it to the disease.[46][47] Peter Borovsky, a Russian military surgeon working in Tashkent, conducted research into the etiology of "oriental sore", locally known as sart sore, and in 1898 published the first accurate description of the causative agent, correctly described the parasite's relation to host tissues and correctly referred it to the protozoa. However, because his results were published in Russian in a journal with low circulation, his results were not internationally acknowledged during his lifetime.[48] In 1901, Leishman identified certain organisms in smears taken from the spleen of a patient who had died from "dum-dum fever" (Dum Dum is an area close to Calcutta) and proposed them to be trypanosomes, found for the first time in India.[49] A few months later, Captain Charles Donovan (1863–1951) confirmed the finding of what became known as Leishman-Donovan bodies in smears taken from people in Madras in southern India.[50] But it was Ronald Ross who proposed that Leishman-Donovan bodies were the intracellular stages of a new parasite, which he named Leishmania donovani.[51] The link with the disease kala-azar was first suggested by Charles Donovan, and was conclusively demonstrated by Charles Bentley's discovery of L. donovani in patients with kala-azar.[52] Transmission by the sandfly was hypothesized by Lionel Napier and Ernest Struthers at the School of Tropical Medicine at Calcutta and later proven by his colleagues.[53][54] The disease became a major problem for Allied troops fighting in Sicily during the Second World War; research by Leonard Goodwin then showed pentostam was an effective treatment.[55]
## Society and culture[edit]
The Institute for OneWorld Health has reintroduced the drug paromomycin for treatment of leishmaniasis, results with which led to its approval as an orphan drug. The Drugs for Neglected Diseases Initiative is also actively facilitating the search for novel therapeutics. A treatment with paromomycin will cost about $10. The drug had originally been identified in the 1960s, but had been abandoned because it would not be profitable, as the disease mostly affects poor people.[56] The Indian government approved paromomycin for sale in August 2006.[57]
By 2012 the World Health Organization had successfully negotiated with the manufacturers to achieve a reduced cost for liposomal amphotericin B, to $18 a vial, but a number of vials are needed for treatment and it must be kept at a stable, cool temperature.[3]
## Research[edit]
Main article: Leishmaniasis vaccine
A parasitologist working on L. major in a biocontainment hood
As of 2017, no leishmaniasis vaccine for humans was available.[58][59] Research to produce a human vaccine is ongoing.[59]
Currently some effective leishmaniasis vaccines for dogs exist.[60] There is also consideration that public health practices can control or eliminate leishmaniasis without a vaccine.[59]
## See also[edit]
* Canine vector-borne disease
* Tropical disease
## References[edit]
1. ^ "Leishmaniasis definition and meaning | Collins English Dictionary". Archived from the original on 24 December 2013. Retrieved 23 December 2013.
2. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z "Leishmaniasis Fact sheet N°375". World Health Organization. January 2014. Archived from the original on 21 February 2014. Retrieved 17 February 2014.
3. ^ a b c d e f g h i j k l m n o p q r s t u v Barrett MP, Croft SL (2012). "Management of trypanosomiasis and leishmaniasis". British Medical Bulletin. 104: 175–96. doi:10.1093/bmb/lds031. PMC 3530408. PMID 23137768.
4. ^ a b "Leishmaniasis Magnitude of the problem". World Health Organization. Archived from the original on 26 October 2013. Retrieved 17 February 2014.
5. ^ a b Vos T, Allen C, Arora M, Barber RM, Bhutta ZA, Brown A, et al. (GBD 2015 Disease Injury Incidence Prevalence Collaborators) (October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
6. ^ Wang H, Naghavi M, Allen C, Barber RM, Bhutta ZA, Carter A, et al. (GBD 2015 Mortality Causes of Death Collaborators) (October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281.
7. ^ a b c d Sundar S, Chakravarty J (January 2013). "Leishmaniasis: an update of current pharmacotherapy". Expert Opinion on Pharmacotherapy. 14 (1): 53–63. doi:10.1517/14656566.2013.755515. PMID 23256501. S2CID 207479873.
8. ^ a b c Dorlo TP, Balasegaram M, Beijnen JH, de Vries PJ (November 2012). "Miltefosine: a review of its pharmacology and therapeutic efficacy in the treatment of leishmaniasis". The Journal of Antimicrobial Chemotherapy. 67 (11): 2576–97. doi:10.1093/jac/dks275. PMID 22833634.
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10. ^ a b Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, et al. (December 2012). "Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2095–128. doi:10.1016/S0140-6736(12)61728-0. hdl:10536/DRO/DU:30050819. PMID 23245604. S2CID 1541253.
11. ^ Ejazi SA, Ali N (January 2013). "Developments in diagnosis and treatment of visceral leishmaniasis during the last decade and future prospects". Expert Review of Anti-Infective Therapy. 11 (1): 79–98. doi:10.1586/eri.12.148. PMID 23428104. S2CID 20508342.
12. ^ "Neglected Tropical Diseases". cdc.gov. 6 June 2011. Archived from the original on 4 December 2014. Retrieved 28 November 2014.
13. ^ James WD, Berger TG, Elston DM (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. pp. 422–428. ISBN 978-0-7216-2921-6.
14. ^ a b Myler PJ, Fasel N (2008). Leishmania: After The Genome. Caister Academic Press. ISBN 978-1-904455-28-8. Archived from the original on 23 April 2008.[page needed]
15. ^ Dacie JV, Bain BJ, Bates I (2006). Dacie and Lewis practical hematology. Philadelphia: Churchill Livingstone/Elsevier. ISBN 978-0-443-06660-3.[page needed]
16. ^ Bensoussan E, Nasereddin A, Jonas F, Schnur LF, Jaffe CL (April 2006). "Comparison of PCR assays for diagnosis of cutaneous leishmaniasis". Journal of Clinical Microbiology. 44 (4): 1435–9. doi:10.1128/JCM.44.4.1435-1439.2006. PMC 1448629. PMID 16597873.
17. ^ "Parasites - Leishmaniasis". Centers for Disease Control and Prevention. January 2013.
18. ^ González U, Pinart M, Sinclair D, Firooz A, Enk C, Vélez ID, et al. (August 2015). Cochrane Infectious Diseases Group (ed.). "Vector and reservoir control for preventing leishmaniasis". The Cochrane Database of Systematic Reviews (8): CD008736. doi:10.1002/14651858.CD008736.pub2. PMC 4561525. PMID 26246011.
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37. ^ Medlock JM, Hansford KM, Van Bortel W, Zeller H, Alten B (June 2014). "A summary of the evidence for the change in European distribution of phlebotomine sand flies (Diptera: Psychodidae) of public health importance". Journal of Vector Ecology. 39 (1): 72–7. doi:10.1111/j.1948-7134.2014.12072.x. PMID 24820558. S2CID 20645170.
38. ^ Aguado M, Espinosa P, Romero-Maté A, Tardío JC, Córdoba S, Borbujo J (May 2013). "Outbreak of cutaneous leishmaniasis in Fuenlabrada, Madrid". Actas Dermo-Sifiliograficas. 104 (4): 334–42. doi:10.1016/j.adengl.2013.03.005. PMID 23567452.
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43. ^ van Thiel PP, Leenstra T, de Vries HJ, van der Sluis A, van Gool T, Krull AC, et al. (December 2010). "Cutaneous leishmaniasis (Leishmania major infection) in Dutch troops deployed in northern Afghanistan: epidemiology, clinical aspects, and treatment". The American Journal of Tropical Medicine and Hygiene. 83 (6): 1295–300. doi:10.4269/ajtmh.2010.10-0143. PMC 2990047. PMID 21118937.
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## External links[edit]
Wikipedia's health care articles can be viewed offline with the Medical Wikipedia app.
Classification
D
* ICD-10: B55
* ICD-9-CM: 085
* MeSH: D007896
* DiseasesDB: 3266
External resources
* MedlinePlus: 001386
* eMedicine: emerg/296
* Patient UK: Leishmaniasis
Wikimedia Commons has media related to Leishmaniasis.
* Leishmaniasis at Curlie
* Doctors Without Borders' Leishmaniasis Information Page
* CDC Leishmaniasis Page
* v
* t
* e
Parasitic disease caused by Excavata protozoa
Discicristata
Trypanosomatida
Trypanosomiasis
* T. brucei
* African trypanosomiasis
* T. cruzi
* Chagas disease
Leishmaniasis
* Leishmania major / L. mexicana / L. aethiopica / L. tropica
* Cutaneous leishmaniasis
* L. braziliensis
* Mucocutaneous leishmaniasis
* L. donovani / infantum
* Visceral leishmaniasis
Schizopyrenida
* Naegleria fowleri
* Primary amoebic meningoencephalitis
Trichozoa
Diplomonadida
* Giardia lamblia (Giardiasis)
Trichomonadida
* Trichomonas vaginalis
* Trichomoniasis
* Dientamoeba fragilis
* Dientamoebiasis
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Leishmaniasis | c0023281 | 28,706 | wikipedia | https://en.wikipedia.org/wiki/Leishmaniasis | 2021-01-18T18:28:23 | {"gard": ["6881"], "mesh": ["D007896"], "umls": ["C0023281"], "wikidata": ["Q331283"]} |
Abortion in Michigan is legal. 54% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.
The number of abortion clinics have been declining in recent years, going from 83 in 1982 to 70 in 1992 to twenty in 2014. There were 19,354 legal abortions performed in the state in 2014. Between 1893 and 1932, there were 156 indictments and 40 convictions of women for having abortions. In 2010, the state had seven publicly funded abortions. There were 27,629 legal abortions in 2014, and 27,151 legal abortions in 2015. There were 26,594 total abortions performed in Michigan in 2017.
## Contents
* 1 Terminology
* 2 Context
* 3 History
* 3.1 Legislative history
* 3.2 Judicial history
* 3.3 Clinic history
* 4 Statistics
* 5 Illegal and unsafe abortion deaths
* 6 Abortion rights views and activities
* 6.1 Views
* 6.2 Protests
* 7 Anti-abortion activities and views
* 7.1 Views
* 7.2 Violence
* 8 Footnotes
* 9 References
## Terminology[edit]
Main article: Abortion
See also: Definitions of abortion
The abortion debate most commonly relates to the "induced abortion" of an embryo or fetus at some point in a pregnancy, which is also how the term is used in a legal sense.[note 1] Some also use the term "elective abortion", which is used in relation to a claim to an unrestricted right of a woman to an abortion, whether or not she chooses to have one. The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons.[1]
Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child",[2][3] and see the medical terms "embryo", "zygote", and "fetus" as dehumanizing.[4][5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing: they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. "Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life".[6] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion".[7]
## Context[edit]
See also: Abortion in the United States
Free birth control correlates to teenage girls having a fewer pregnancies and fewer abortions. A 2014 New England Journal of Medicine study found such a link. At the same time, a 2011 study by Center for Reproductive Rights and Ibis Reproductive Health also found that states with more abortion restrictions have higher rates of maternal death, higher rates of uninsured pregnant women, higher rates of infant and child deaths, higher rates of teen drug and alcohol abuse, and lower rates of cancer screening.[8]
According to a 2017 report from the Center for Reproductive Rights and Ibis Reproductive Health, states that tried to pass additional constraints on a women's ability to access legal abortions had fewer policies supporting women's health, maternal health and children's health. These states also tended to resist expanding Medicaid, family leave, medical leave, and sex education in public schools.[9] According to Megan Donovan, a senior policy manager at the Guttmacher Institute, states have legislation seeking to protect a woman's right to access abortion services have the lowest rates of infant mortality in the United States.[9]
## History[edit]
### Legislative history[edit]
By the end of the 1800s, all states in the Union except Louisiana had therapeutic exceptions in their legislative bans on abortions.[10] In the 19th century, bans by state legislatures on abortion were about protecting the life of the mother given the number of deaths caused by abortions; state governments saw themselves as looking out for the lives of their citizens.[10] In 1932, a law was passed that made abortion illegal in the state.[11]
In 2006, the parents of Becky Bell, a girl whose death was related to the existence of parental consent rules, testified before the Michigan House of Representatives in opposition to a pending parental consent law.[12] The state was one of 23 states in 2007 to have a detailed abortion-specific informed consent requirement.[13] Michigan was the only state with a detailed informed consent statue that provided women seeking abortions on the state website with information about pregnancy relative to how far along the woman is.[14] Georgia, Michigan, Arkansas and Idaho all required in 2007 that women must be provided by an abortion clinic with the option to view an image their fetus if an ultrasound is used prior to the abortion taking place.[14] Michigan was the only state 23 with written informed consent materials that did not require abortion providers to give patients information about abortion alternatives.[14]
In 2013, state Targeted Regulation of Abortion Providers (TRAP) law applied to medication induced abortions in addition to abortion clinics.[15] The state legislature was one of ten states nationwide that tried to unsuccessfully pass a fetal heartbeat bill in 2018. Only Iowa successfully passed such a bill, but it was struck down by the courts.[16]
In May 2019, the Republican dominated state Legislature passed HB 4320-4321 and SB 229-230 which banned dilation and evacuation abortions. They specified criminal sentences of two years for anyone who performed this type of abortion procedure. The legislation passed 22 -16 in the Senate and 58 - 51 in the House.[11] Michigan Governor Gretchen Whitmer promised to veto the legislation and any similar legislation attempting to ban abortions in the state.[11] As of May 14, 2019, the state prohibited abortions after the fetus was viable, generally some point between week 24 and 28. This period uses a standard defined by the US Supreme Court in 1973 with the Roe v. Wade ruling.[17]
### Judicial history[edit]
The US Supreme Court's decision in 1973's Roe v. Wade ruling meant the state could no longer regulate abortion in the first trimester.[10]
### Clinic history[edit]
Number of abortion clinics in Michigan by year.
See also: Abortion clinic
Between 1982 and 1992, the number of abortion clinics in the state decreased by thirteen, going from 83 in 1982 to 70 in 1992.[18] In 2014, there were twenty abortion clinics in the state.[19] In 2014, 89% of the counties in the state did not have an abortion clinic. That year, 40% of women in the state aged 15 – 44 lived in a county without an abortion clinic.[20] In March 2016, there were 21 Planned Parenthood clinics in the state.[21] In 2017, there were 19 Planned Parenthood clinics in a state with a population of 2,209,248 women aged 15 – 49 of which 8 offered abortion services.[22]
## Statistics[edit]
Between 1893 and 1932, there were 156 indictments and 40 convictions of women for having abortions.[10] In 1990, 1,157,000 women in the state faced the risk of an unintended pregnancy.[18] In 2010, the state had seven publicly funded abortions, of which were seven federally funded and zero were state funded.[23] In 2013, among white women aged 15–19, there were abortions 1460, 1700 abortions for black women aged 15–19, 130 abortions for Hispanic women aged 15–19, and 90 abortions for women of all other races.[24] In 2014, 54% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.[25] In 2017, the state had an infant mortality rate of 6.8 deaths per 1,000 live births.[9] In 2017, there were 1,777 dilation and evacuation procedures among the 26,594 total abortions performed in Michigan that year.[11]
Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996[26] Census division and state Number Rate % change 1992–1996
1992 1995 1996 1992 1995 1996
East North Central 204,810 185,800 190,050 20.7 18.9 19.3 –7
Illinois 68,420 68,160 69,390 25.4 25.6 26.1 3
Indiana 15,840 14,030 14,850 12 10.6 11.2 –7
Michigan 55,580 49,370 48,780 25.2 22.6 22.3 –11
Ohio 49,520 40,940 42,870 19.5 16.2 17 –13
Wisconsin 15,450 13,300 14,160 13.6 11.6 12.3 –9
Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents, US CDC estimates Location Residence Occurrence % obtained by
out-of-state residents
Year Ref
No. Rate^ Ratio^^ No. Rate^ Ratio^^
Michigan 26,646 14.1 233 27,629 14.6 242 4.7 2014 [27]
Michigan 26,283 14 232 27,151 14.4 240 4.2 2015 [28]
Michigan 25,572 13.6 226 26,395 14.1 233 4.0 2016 [29]
^number of abortions per 1,000 women aged 15-44; ^^number of abortions per 1,000 live births
## Illegal and unsafe abortion deaths[edit]
In the period between 1972 and 1974, the state had an illegal abortion mortality rate per million women aged 15 – 44 of between 0.1 and 0.9.[30] In 2005, the Detroit News reported that a 16-year-old boy beat his pregnant, under-age girlfriend with a bat at her request to abort a fetus. The young couple lived in Michigan, where parental consent is required to receive an abortion.[31][32][33]
## Abortion rights views and activities[edit]
Ann Arbor Women's March in 2017.
### Views[edit]
Sen. Winnie Brinks, D-Grand Rapids said during a hearing on the 2019 proposed abortion legislation, "Nearly 99% of abortions occur before 21 weeks, but when they are needed later in pregnancy, it is often in very complex circumstances, the kinds of situations where a woman and her doctor need every medical option available. [...] In fact, abortions later in pregnancy often involve rare, severe fetal abnormalities, and serious risks to women's health." Sen. Erika Geiss, D-Taylor said during the same debate, "I can stand here and call out the hypocrisy of predominantly male legislators — most of whom, with zero medical background — who somehow decided when they took office that they are medical experts and experts of women's bodies and health care."[11]
### Protests[edit]
Women from the state participated in marches supporting abortion rights as part of a #StoptheBans movement in May 2019.[34]
## Anti-abortion activities and views[edit]
### Views[edit]
The Democrats for Life of America are a group of anti-abortion Democrats on the political left who advocate for an anti-abortion plank in the Democratic Party's platform and for anti-abortion Democratic candidates. Former vice-presidential candidate Sargent Shriver, the late Robert Casey, a former two-term governor of Pennsylvania, and former Rep. Bart Stupak (D-Mich), a former leader of the bipartisan anti-abortion caucus in the United States House of Representatives, have been among the most well-known anti-abortion Democrats.[35] However, following his vote in favor of the Patient Protection and Affordable Care Act, Marjorie Dannenfelser of the SBA List reported that her organization was revoking an anti-abortion award it had been planning to give to Stupak,[36] and anti-abortion organizations accused Stupak of having betrayed the anti-abortion movement.[37][38][39][40]
### Violence[edit]
There was an arson attack at an abortion clinic in 1981 in Michigan that caused US$57,000 in damage.[41] On September 11, 2006, David McMenemy of Rochester Hills, Michigan, crashed his car into the Edgerton Women's Care Center in Davenport, Iowa. He then doused the lobby in gasoline and started a fire. McMenemy committed these acts in the belief that the center was performing abortions; however, Edgerton is not an abortion clinic.[42] Time magazine listed the incident in a "Top 10 Inept Terrorist Plots" list.[43]
## Footnotes[edit]
1. ^ According to the Supreme Court's decision in Roe v. Wade:
> (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Likewise, Black's Law Dictionary defines abortion as "knowing destruction" or "intentional expulsion or removal".
## References[edit]
1. ^ Watson, Katie (20 Dec 2019). "Why We Should Stop Using the Term "Elective Abortion"". AMA Journal of Ethics. 20: E1175-1180. doi:10.1001/amajethics.2018.1175. PMID 30585581. Retrieved 17 May 2019.
2. ^ Chamberlain, Pam; Hardisty, Jean (2007). "The Importance of the Political 'Framing' of Abortion". The Public Eye Magazine. 14 (1).
3. ^ "The Roberts Court Takes on Abortion". New York Times. November 5, 2006. Retrieved January 18, 2008.
4. ^ Brennan 'Dehumanizing the vulnerable' 2000
5. ^ Getek, Kathryn; Cunningham, Mark (February 1996). "A Sheep in Wolf's Clothing – Language and the Abortion Debate". Princeton Progressive Review.
6. ^ "Example of "anti-life" terminology" (PDF). Archived from the original (PDF) on 2011-07-27. Retrieved 2011-11-16.
7. ^ Goldstein, Norm, ed. The Associated Press Stylebook. Philadelphia: Basic Books, 2007.
8. ^ Castillo, Stephanie (2014-10-03). "States With More Abortion Restrictions Hurt Women's Health, Increase Risk For Maternal Death". Medical Daily. Retrieved 2019-05-27.
9. ^ a b c "States pushing abortion bans have highest infant mortality rates". NBC News. Retrieved 2019-05-25.
10. ^ a b c d Buell, Samuel (1991-01-01). "Criminal Abortion Revisited". New York University Law Review. 66: 1774–1831.
11. ^ a b c d e "Republicans in House, Senate pass anti-abortion bills after emotional debate". Detroit Free Press. Retrieved 2019-05-28.
12. ^ Michelman, Kate (May–June 2006). "When parental involvement laws go wrong". The Humanist. 66 (3).(subscription required)
13. ^ "STATE POLICY ON INFORMED CONSENT FOR ABORTION" (PDF). Guttmacher Policy Review. Fall 2007. Retrieved May 22, 2019.
14. ^ a b c "State Abortion Counseling Policies and the Fundamental Principles of Informed Consent". Guttmacher Institute. 2007-11-12. Retrieved 2019-05-22.
15. ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price". Guttmacher Institute. 2013-06-27. Retrieved 2019-05-27.
16. ^ Lai, K. K. Rebecca (2019-05-15). "Abortion Bans: 8 States Have Passed Bills to Limit the Procedure This Year". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
17. ^ Lai, K. K. Rebecca (2019-05-15). "Abortion Bans: 8 States Have Passed Bills to Limit the Procedure This Year". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
18. ^ a b Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998). A State-By-State Review of Abortion and Reproductive Rights. DIANE Publishing. ISBN 9780788174810.
19. ^ Gould, Rebecca Harrington, Skye. "The number of abortion clinics in the US has plunged in the last decade — here's how many are in each state". Business Insider. Retrieved 2019-05-23.
20. ^ businessinsider (2018-08-04). "This is what could happen if Roe v. Wade fell". Business Insider (in Spanish). Retrieved 2019-05-24.
21. ^ Bohatch, Emily. "27 states with the most Planned Parenthood clinics". thestate. Retrieved 2019-05-24.
22. ^ "Here's Where Women Have Less Access to Planned Parenthood". Retrieved 2019-05-23.
23. ^ "Guttmacher Data Center". data.guttmacher.org. Retrieved 2019-05-24.
24. ^ "No. of abortions among women aged 15–19, by state of residence, 2013 by racial group". Guttmacher Data Center. Retrieved 2019-05-24.
25. ^ "Views about abortion by state - Religion in America: U.S. Religious Data, Demographics and Statistics". Pew Research Center. Retrieved 2019-05-23.
26. ^ "Abortion Incidence and Services in the United States, 1995-1996". Guttmacher Institute. 2005-06-15. Retrieved 2019-06-02.
27. ^ Jatlaoui, Tara C. (2017). "Abortion Surveillance — United States, 2014". MMWR. Surveillance Summaries. 66 (24): 1–48. doi:10.15585/mmwr.ss6624a1. ISSN 1546-0738. PMID 29166366.
28. ^ Jatlaoui, Tara C. (2018). "Abortion Surveillance — United States, 2015". MMWR. Surveillance Summaries. 67 (13): 1–45. doi:10.15585/mmwr.ss6713a1. ISSN 1546-0738. PMC 6289084. PMID 30462632.
29. ^ Jatlaoui, Tara C. (2019). "Abortion Surveillance — United States, 2016". MMWR. Surveillance Summaries. 68. doi:10.15585/mmwr.ss6811a1. ISSN 1546-0738.
30. ^ Cates, Willard; Rochat, Roger (March 1976). "Illegal Abortions in the United States: 1972–1974". Family Planning Perspectives. 8 (2): 86. doi:10.2307/2133995. JSTOR 2133995. PMID 1269687.
31. ^ Cardenas E, Hunter G (5 January 2005). "Boy Faces Felony in Baseball Bat Abortion". Detroit News.
32. ^ White P (January 13–21, 2005). "Baseball Bat Abortion". Boulder Weekly. Archived from the original on 2011-07-08. Retrieved 2009-05-31.
33. ^ "Michigan: Restrictions on Young Women's Access to Abortion". NARAL Pro-Choice America. Archived from the original on 2009-05-31. Retrieved 2009-05-31.
34. ^ Bacon, John. "Abortion rights supporters' voices thunder at #StopTheBans rallies across the nation". USA TODAY. Retrieved 2019-05-25.
35. ^ PATRICK O'CONNOR (21 March 2010). "Historic win close after Bart Stupak deal". Politico.com. Retrieved 2011-11-16.
36. ^ "Choice, Life Groups Slam Obama Order on Abortion Funding". Fox News. 2010-03-21.
37. ^ "Pro-Life Groups Help Stupak's GOP Opponents". Newsmax.com. 2010-03-22. Retrieved 2011-09-19.
38. ^ "Stupak: From Prolife Groups' Hero to Villain 'In a Nanosecond' | Christianity Today | A Magazine of Evangelical Conviction". Christianity Today. 2010-03-22. Retrieved 2011-09-19.
39. ^ "Bart Stupak's Retirement Stirs Mixed Reactions, Christian News". Christianpost.com. Retrieved 2011-09-19.
40. ^ Parker, Kathleen (2010-03-24). "Stupak's fall from pro-life grace". The Washington Post.
41. ^ Jacobson, Mireille; Royer, Heather (December 2010). "Aftershocks: The Impact of Clinic Violence on Abortion Services". American Economic Journal: Applied Economics. 3: 189–223. doi:10.1257/app.3.1.189.
42. ^ "Man Crashes Into Davenport Health Clinic Archived 2010-03-11 at the Wayback Machine". Davenport, IA: KWQC-TV. September 13, 2006. Retrieved May 11,2008.
43. ^ Fletcher, Dan (2009-09-08). "Top 10 Inept Terrorist Plots". Time. ISSN 0040-781X. Retrieved 2019-05-22.
Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* North Carolina
* North Dakota
* Ohio
* Oklahoma
* Oregon
* Pennsylvania
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* Utah
* Vermont
* Virginia
* Washington
* West Virginia
* Wisconsin
* Wyoming
Federal district
Washington, D.C.
Insular areas
* American Samoa
* Guam
* Northern Mariana Islands
* Puerto Rico
* U.S. Virgin Islands
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Abortion in Michigan | None | 28,707 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Michigan | 2021-01-18T18:56:07 | {"wikidata": ["Q64876926"]} |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. It is diagnosed based on symptoms and the results of tests such as an EEG. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autosomal dominant nocturnal frontal lobe epilepsy | c3696898 | 28,708 | gard | https://rarediseases.info.nih.gov/diseases/11918/autosomal-dominant-nocturnal-frontal-lobe-epilepsy | 2021-01-18T18:01:57 | {"mesh": ["C579932"], "omim": ["600513"], "orphanet": ["98784"], "synonyms": ["ADNFLE", "Epilepsy, nocturnal frontal lobe, 1", "ENFL1", "Autosomal dominant sleep-related hypermotor epilepsy"]} |
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital lethal myopathy, Compton-North type | c2675527 | 28,709 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210163 | 2021-01-23T17:03:33 | {"mesh": ["C567261"], "omim": ["612540"], "icd-10": ["G71.2"]} |
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: "Genu valgum" – news · newspapers · books · scholar · JSTOR (February 2010) (Learn how and when to remove this template message)
Genu valgum
Other namesKnock knee
A very severe case of genu valgum of the left knee following bone cancer treatment
SpecialtyMedical genetics
Genu valgum, commonly called "knock-knee", is a condition in which the knees angle in and touch each other when the legs are straightened. Individuals with severe valgus deformities are typically unable to touch their feet together while simultaneously straightening the legs. The term originates from the Latin genu, 'knee', and valgus which actually means 'bent outwards', but in this case, it is used to describe the distal portion of the knee joint which bends outwards and thus the proximal portion seems to be bent inwards. For citation and more information on uses of the words Valgus and Varus, see varus deformity.
Mild genu valgum is diagnosed when a person standing upright with the feet touching also shows the knees touching. It can be seen in children from ages 2 to 5, and is often corrected naturally as children grow. However, the condition may continue or worsen with age, particularly when it is the result of a disease, such as rickets. Idiopathic genu valgum is a form that is either congenital or has no known cause.
Other systemic conditions may be associated, such as Schnyder crystalline corneal dystrophy, an autosomal dominant condition frequently reported with hyperlipidemia.
## Contents
* 1 Cause
* 1.1 Rickets
* 1.2 Osteochondrodysplasia
* 1.3 Trauma
* 2 Diagnostic
* 2.1 Radiography
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Cause[edit]
Genu valgum can arise from a variety of causes including nutritional, genetic, traumatic, idiopathic or physiologic and infectious.[1]
### Rickets[edit]
Nutritional rickets is an important cause of childhood genu valgum or knock knees in some parts of the world. Nutritional rickets arises from unhealthy life style habits as insufficient exposure to sun light which is the main source of vitamin D. Insufficient dietary intake of calcium is another contributing factor.[2][3] Similarly, genu valgum may arise from rickets caused by genetic abnormalities, called vitamin D-resistant rickets or X-linked hypophosphatemia.
### Osteochondrodysplasia[edit]
Osteochondrodysplasia are a variable group of genetic bone diseases or genetic skeletal dysplasias that present with generalized bone deformities involving all extremities and the spine. Genu valgum or knock knees is one of the known skeletal manifestations of Osteochondrodysplasias. A complete bone X-ray survey is mandatory to reach a definitive diagnosis.[4]
### Trauma[edit]
## Diagnostic[edit]
Image showing how Q-angle is measured
The degree of genu valgum can clinically be estimated by the Q angle, which is the angle formed by a line drawn from the anterior superior iliac spine through the center of the patella and a line drawn from the center of the patella to the center of the tibial tubercle. In women, the Q angle should be less than 22 degrees with the knee in extension and less than 9 degrees with the knee in 90 degrees of flexion. In men, the Q angle should be less than 18 degrees with the knee in extension and less than 8 degrees with the knee in 90 degrees of flexion. A typical Q angle is 12 degrees for men and 17 degrees for women.[5]
### Radiography[edit]
On projectional radiography, the degree of varus or valgus deformity can be quantified by the hip-knee-ankle angle,[6] which is an angle between the femoral mechanical axis and the center of the ankle joint.[7] It is normally between 1.0° and 1.5° of varus in adults.[8] Normal ranges are different in children.[9]
* Hip-knee-ankle angle.
* Hip-knee-ankle angle by age, with 95% prediction interval.[9]
## Treatment[edit]
The treatment of genu valgum in children depends on the underlying cause. Developmental also known as idiopathic genu valgum is usually self-limiting and resolves during childhood. Genu valgum secondary to nutritional rickets is typically treated with life style modifications in the form of adequate sun exposure to ensure receiving the daily requirements of vitamin D and nutrition with rich calcium diet. Additionally calcium and vitamin D supplementations may be used. If the deformity does not resolve despite the above conservative treatment and the deformity is severe and causing gait impairment, then surgery can be an option. Typically, guided growth surgery is used to straighten the deformed bone.[10] Genu valgum arising from osteochondrodysplasia[4] usually needs repeated guided growth surgical interventions.[11] Genu valgum secondary to trauma depends on the degree of physeal damage. And usually limb reconstruction procedures are needed, especially if trauma occurs in the early years of life where the anticipated remaining longitudinal bone growth is great.
The treatment of genu valgum in adults depends on the underlying cause and the degree of joint involvement namely arthritis. Bone corrective osteotomies and prosthetic joint replacement may be used depending upon the patient's age and symptomatology in terms of pain and functional impairment. Weight loss and substitution of high-impact for low-impact exercise can help slow progression of the condition. With every step, the patient's weight places a distortion on the knee toward a knocked knee position, and the effect is increased with increased angle or increased weight. Even in the normal knee position, the femurs function at an angle because they connect to the hip girdle at points much further apart than they connect at the knees.
Working with a physical medicine specialist such as a physiatrist, or a physiotherapist may assist a patient learning how to improve outcomes and use the leg muscles properly to support the bone structures. Alternative or complementary treatments may include certain procedures from Iyengar Yoga or the Feldenkrais Method.
## See also[edit]
* Genu varum (bow-legs)
* Genu recurvatum (back knee)
* Knee pain
* Knee osteoarthritis
## References[edit]
1. ^ NHS (January 2016). "Knock Knees".
2. ^ Creo, AL; Thacher, TD; Pettifor, JM; Strand, MA; Fischer, PR (6 December 2016). "Nutritional rickets around the world: an update. Paediatr Int Child Health". Paediatr Int Child Health. 37 (2): 84–98. doi:10.1080/20469047.2016.1248170. PMID 27922335. S2CID 6146424.
3. ^ EL-Sobky, TA; Samir, S; Baraka, MM; Fayyad, TA; Mahran, MA; Aly, AS; Amen, J; Mahmoud, S (1 January 2020). "Growth modulation for knee coronal plane deformities in children with nutritional rickets: A prospective series with treatment algorithm". JAAOS: Global Research and Reviews. 4 (1): e19.00009. doi:10.5435/JAAOSGlobal-D-19-00009. PMC 7028784. PMID 32159063.
4. ^ a b EL-Sobky, TA; Shawky, RM; Sakr, HM; Elsayed, SM; Elsayed, NS; Ragheb, SG; Gamal, R (15 November 2017). "A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review". J Musculoskelet Surg Res. 1 (2): 25. doi:10.4103/jmsr.jmsr_28_17. S2CID 79825711.
5. ^ Mohammad-Jafar Emami, Mohammad-Hossein Ghahramani, Farzad Abdinejad and Hamid Namazi (January 2007). "Q-angle: an invaluable parameter for evaluation of anterior knee pain". Archives of Iranian Medicine. 10 (1): 24–26. PMID 17198449.CS1 maint: uses authors parameter (link)
6. ^ W-Dahl, Annette; Toksvig-Larsen, Sören; Roos, Ewa M (2009). "Association between knee alignment and knee pain in patients surgically treated for medial knee osteoarthritis by high tibial osteotomy. A one year follow-up study". BMC Musculoskeletal Disorders. 10 (1): 154. doi:10.1186/1471-2474-10-154. ISSN 1471-2474. PMC 2796991. PMID 19995425.
7. ^ Cherian, Jeffrey J.; Kapadia, Bhaveen H.; Banerjee, Samik; Jauregui, Julio J.; Issa, Kimona; Mont, Michael A. (2014). "Mechanical, Anatomical, and Kinematic Axis in TKA: Concepts and Practical Applications". Current Reviews in Musculoskeletal Medicine. 7 (2): 89–95. doi:10.1007/s12178-014-9218-y. ISSN 1935-973X. PMC 4092202. PMID 24671469.
8. ^ Sheehy, L.; Felson, D.; Zhang, Y.; Niu, J.; Lam, Y.-M.; Segal, N.; Lynch, J.; Cooke, T.D.V. (2011). "Does measurement of the anatomic axis consistently predict hip-knee-ankle angle (HKA) for knee alignment studies in osteoarthritis? Analysis of long limb radiographs from the multicenter osteoarthritis (MOST) study". Osteoarthritis and Cartilage. 19 (1): 58–64. doi:10.1016/j.joca.2010.09.011. ISSN 1063-4584. PMC 3038654. PMID 20950695.
9. ^ a b Sabharwal, Sanjeev; Zhao, Caixia (2009). "The Hip-Knee-Ankle Angle in Children: Reference Values Based on a Full-Length Standing Radiograph". The Journal of Bone and Joint Surgery, American Volume. 91 (10): 2461–2468. doi:10.2106/JBJS.I.00015. ISSN 0021-9355. PMID 19797583.
10. ^ EL-Sobky, TA; Samir, S; Baraka, MM; Fayyad, TA; Mahran, MA; Aly, AS; Amen, J; Mahmoud, S (1 January 2020). "Growth modulation for knee coronal plane deformities in children with nutritional rickets: A prospective series with treatment algorithm". JAAOS: Global Research and Reviews. 4 (1): e19.00009. doi:10.5435/JAAOSGlobal-D-19-00009. PMC 7028784. PMID 32159063.
11. ^ Journeau, P (25 October 2019). "Update on guided growth concepts around the knee in children". Orthop Traumatol Surg Res. S1877-0568 (19): S171–S180. doi:10.1016/j.otsr.2019.04.025. PMID 31669550.
## External links[edit]
Classification
D
* ICD-10: Q74.1
* ICD-9-CM: 736.41, 755.64
* MeSH: D056304
* DiseasesDB: 29408
External resources
* MedlinePlus: 001263
* eMedicine: orthoped/495
* Treating knock knee \- UK NHS
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Genu valgum | c0576093 | 28,710 | wikipedia | https://en.wikipedia.org/wiki/Genu_valgum | 2021-01-18T18:52:43 | {"mesh": ["D056304"], "umls": ["C0576093"], "icd-9": ["755.64", "736.41"], "icd-10": ["M21.0"], "wikidata": ["Q303231"]} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-10 (COXPD10) is caused by homozygous or compound heterozygous mutation in the MTO1 gene (614667) on chromosome 6q13.
Description
COXPD10 is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by Ghezzi et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Features
Ghezzi et al. (2012) reported 2 Italian sibs, born of unrelated parents, with fatal infantile hypertrophic cardiomyopathy. Both patients showed reduced fetal growth. The first presented soon after birth with lactic acidosis and severe hypoglycemia. Electroencephalogram (EEG) and cerebral, hepatic, and splenic echography were normal. Interventricular septum hypertrophy of the heart was detected on the fifteenth day of life, and he died of sudden bradycardia on day 19. Skin fibroblasts showed a reduction of mitochondrial complex III (60% of control) and complex IV (56%) of control. The patient's younger sister had severe metabolic acidosis at birth with increased blood lactate. Treatment with biotin, coenzyme Q10, thiamine, and dichloroacetate (DCA) resulted in stabilization. She became tachycardic on day 7, but heart ultrasound did not show abnormalities until day 38, when hypertrophy of the septum and left ventricular wall were seen. She died of sudden bradycardia on day 40. Autopsy showed cardiomegaly, pleural effusion, and ascites. Muscle tissue showed decreased complex I and complex IV activity (both 27% of control), whereas fibroblasts showed only decreased complex I activity. An unrelated boy from northeastern Italy had a similar disorder with a better outcome. At age 1 month, he presented with poor feeding, hyperpnea, weakness, and lack of ocular fixation. Physical examination showed hepatomegaly, lactic acidosis, and hypertrophic cardiomyopathy with reduced left ventricular function. Muscle tissues showed reduced activities of complex I (12% of control) and complex IV (30%). Treatment with DCA resulted in marked improvement of both metabolic acidosis and cardiomyopathy. After 9 months of DCA therapy, a cardiac ultrasound examination showed a normal-sized heart, with normal left ventricular wall thickness and function, and low blood lactate. He showed good growth and normal neurologic development in childhood, and DCA was stopped at age 12 years. Muscle biopsy at 17 years showed severe reduction of complex I (7%) and complex IV (35%). Cardiac evaluation at age 19 years showed hypertrophic cardiomyopathy with an ejection fraction of 60% and sinus bradycardia. Neurologic examination was normal except for a small reduction of fine movements and optic atrophy.
Baruffini et al. (2013) reported 5 patients from 3 unrelated families with COXPD10 manifest as infantile cardiomyopathy and lactic acidosis. Three patients presented at birth or in the first days of life with poor feeding, hypotonia, and failure to thrive, whereas 2 sibs presented in the first months of life with cardiomyopathy. One patient had Wolff-Parkinson-White syndrome (194200). The disease course was highly variable: 2 sibs died at ages 3 and 12 months, whereas 2 other sibs and an unrelated girl were alive in their teens with stable cardiac disease. The 3 patients who survived were treated aggressively with dichloroacetate (DCA) to control severe lactic acidosis. The 3 patients who survived developed psychomotor delay and other variable neurologic features, such as poor speech, dystonia, spasticity, and seizures. Brain MRI of 2 patients showed abnormal hyperintensities in deep brain structures. Patient-derived muscle samples and fibroblasts showed variable decreases of complex I and IV as well as overall defects in mitochondrial respiration.
O'Byrne et al. (2018) identified and reviewed 35 cases of COXPD10 through international collaboration. The most common features at presentation were lactic acidosis, present in 21 (62%) of 34 cases, and hypertrophic cardiomyopathy, present in 15 (44%) of 34 cases. Eventually lactic acidosis developed in all cases, and hypertrophic cardiomyopathy was described in 27 (79%) of 34 patients with this disease. Global developmental delay and/or intellectual disability were present in 28 of 29 (97%), feeding difficulties in 17 (49%) of 35, failure to thrive in 12 (34%) of 35, seizures in 12 (34%) of 35, optic atrophy in 11 (52%) of 21 cases. Ataxia was present in 7 (21%) of 34. The average age at presentation was 10.2 months (range, day 1 to 8.0 years).
Clinical Management
O'Byrne et al. (2018) reported that among 5 patients in whom a ketogenic diet was instituted, a favorable effect on seizures was seen in 2.
Inheritance
The transmission pattern of COXPD10 in the families reported by Ghezzi et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
By whole-exome sequencing of an Italian patient with COXPD10 manifest as fatal infantile hypertrophic cardiomyopathy and lactic acidosis, Ghezzi et al. (2012) identified compound heterozygous mutations in the MTO1 gene (1858dup, 614667.0001 and A428T, 614667.0002). The patient's similarly affected sib also carried the mutations. An unrelated patient with the disorder who showed better survival was homozygous for the A428T mutation. In yeast mutants, respiration and growth defects were not corrected by the truncating mutation but were partially corrected by the missense mutation. In addition, the truncating mutation caused reduced mtDNA protein synthesis, whereas the missense mutation resulted in mtDNA protein synthesis similar to wildtype. These results reflected the more severe fatal phenotype in the sibs with the truncating mutation compared to the less severe phenotype in the patient homozygous for the missense mutation.
In 5 patients from 3 unrelated families with COXPD10 manifest as infantile cardiomyopathy and lactic acidosis, Baruffini et al. (2013) identified biallelic mutations in the MTO1 gene (614667.0002-614667.0004). Studies in yeast showed that the mutations had variable detrimental effects on oxidative growth, respiratory activity, mitochondrial protein synthesis, and complex IV activity.
O'Byrne et al. (2018) described 19 different pathogenic MTO1 variants in 35 cases: 1 splice-site, 3 frameshift, and 15 missense variants. None of the cases had biallelic variants that completely inactivated MTO1; however, patients in whom 1 variant was truncating while the second was missense appeared to have a more severe, even fatal, phenotype. O'Byrne et al. (2018) argued these data suggested that complete loss of MTO1 is not viable.
INHERITANCE \- Autosomal recessive GROWTH Weight \- Low birth weight Other \- Failure to thrive (in some patients) HEAD & NECK Eyes \- Lack of ocular fixation (1 patient) \- Optic atrophy (in some patients) CARDIOVASCULAR Heart \- Cardiomyopathy, hypertrophic (in many patients) \- Arrhythmias ABDOMEN Gastrointestinal \- Poor feeding (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia \- Variable deficiencies of mitochondrial respiratory chain complexes I, III, and IV NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Global developmental delay \- Cognitive impairment \- Poor speech \- Ataxia (in some patients) Seizures (in some patients) \- Spasticity (1 patient) \- Dystonia (1 patient) \- T2-weighted hyperintensities in deep brain regions METABOLIC FEATURES \- Metabolic acidosis \- Lactic acidosis \- Hypoglycemia LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased serum alanine (in many patients) \- Elevated urinary lactate MISCELLANEOUS \- Onset at birth or in first months of life but a few have presented as late as 8 years of age \- Sudden infantile death may occur \- Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet MOLECULAR BASIS \- Caused by mutation in the mitochondrial tRNA translation optimization 1 gene (MTO1, 614667.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 | c3553529 | 28,711 | omim | https://www.omim.org/entry/614702 | 2019-09-22T15:54:28 | {"doid": ["0060286"], "omim": ["614702"], "orphanet": ["314637"], "synonyms": ["Alternative titles", "CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS", "Combined oxidative phosphorylation defect type 10", "COXPD10"]} |
A number sign (#) is used with this entry because of evidence that familial hyperaldosteronism type II (HALD2) is caused by heterozygous mutation in the CLCN2 gene (600570) on chromosome 3q27.
For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900).
Description
Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. Spironolactone is an effective treatment (summary by Scholl et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900).
Clinical Features
Stowasser et al. (1992) reported a family (family 3) with familial hyperaldosteronism. Affected individuals had hypertension and hypokalemia. Adrenal venous sampling was consistent with bilateral production of aldosterone; none had adenomas. Scholl et al. (2018) provided a follow-up of the family reported by Stowasser et al. (1992). There were 7 affected individuals, 6 of whom were found to have hypertension between 16 and 24 years of age. Most had increased serum aldosterone and an increased aldosterone/renin ratio (ARR) with a positive confirmatory fludrocortisone suppression test and non-lateralizing aldosterone production. Severe patients had hypokalemia. Hypertension and hypokalemia responded to treatment with spironolactone. One mutation carrier had normal blood pressure but an increased aldosterone/renin ratio, whereas another mutation carrier was normotensive with a normal aldosterone/renin ratio. These findings indicated incomplete penetrance and variable expressivity. Scholl et al. (2018) also identified 9 patients from 7 additional families with similar features. The age at onset ranged from childhood to young adulthood. One patient presented in infancy, but hypertension resolved by 2 years of age. Scholl et al. (2018) noted that the phenotype was similar to HALD4 (617027).
Fernandes-Rosa et al. (2018) reported a 9-year-old girl with HALD2 who presented with hypertension, hypokalemia, elevated serum aldosterone, and suppressed plasma renin activity. Abdominal imaging showed no adrenal abnormalities. She responded well to treatment with spironolactone and amlodipine.
Inheritance
The transmission pattern of HALD2 in the family reported by Stowasser et al. (1992) and Scholl et al. (2018) was consistent with autosomal dominant inheritance with incomplete penetrance.
Molecular Genetics
In affected members of 8 unrelated families with HALD2, Scholl et al. (2018) identified 5 different heterozygous missense mutations in the CLCN2 gene (600570.0010-600570.0014). The mutation in the first family (family 3, originally reported by Stowasser et al., 1992) was found by exome sequencing and confirmed by Sanger sequencing. The variant segregated with the disorder in the family, although there was evidence of incomplete penetrance and variable disease expressivity. Subsequent CLCN2 mutations in the other families were found by screening the CLCN2 gene in 80 patients with a similar phenotype. In 2 patients, the CLCN2 mutation occurred de novo. One mutation (R172Q; 600570.0010) was found in 4 unrelated families, and haplotype analysis suggested independent occurrence of the mutation. In vitro functional expression studies in human HEK293 and H295R human adrenocortical cancer cells showed that all mutants shifted the activation curve of the channel to more positive voltages with higher open probabilities at the glomerulosa resting potential. All except 1 mutant (S865R; 600570.0012) modified the common gate by increasing the minimum open probability and accelerating activation, resulting in significantly larger chloride efflux compared to wildtype. The S865R variant, which likely has a regulatory function, slowed down deactivation of the gates, with a similar overall effect of increasing chloride flux. The mutations increased expression of CYP11B2 (124080) and its upstream regulator NR4A2 (601828), which increased aldosterone production. Current clamp recordings showed that the R172Q significantly amplified the depolarization of H295R-derived cells compared to wildtype. The findings demonstrated a role of anion channels in glomerulosa membrane potential determination and aldosterone production, and further showed that CLCN2 mutations can increase excitatory anion efflux by modifying the voltage dependence of channel opening, resulting in a gain of function.
In a girl with HALD2, Fernandes-Rosa et al. (2018) identified a de novo heterozygous missense mutation in the CLCN2 gene (G24D; 600570.0015). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The patient was 1 of 12 patients with early-onset hypertension and hyperaldosteronism who underwent whole-exome sequencing. Expression of the mutant protein in Xenopus oocytes dramatically increased current amplitudes compared to wildtype due to a change in the voltage-dependent gating of CLCN2. Expression of the mutation into human adrenocortical cells resulted in increased expression of aldosterone synthase (CYP11B2) and increased aldosterone production, as well as robust chloride currents that lacked strong voltage dependence. Cells expressing the mutation also had increased aldosterone production after stimulation with angiotensin II compared to cells with wildtype CLCN2. Knockdown of CLCN2 in human adrenocortical cells using shRNA abolished chloride currents and decreased aldosterone production. Sequencing of exon 2 of the CLCN2 gene in 100 patients with bilateral adrenal hyperplasia identified 2 rare heterozygous variants (R66Q and P48R) in 2 patients diagnosed with hypertension at 29 and 19 years, respectively, during pregnancy. However, both variants failed to significantly change CLCN2 currents in Xenopus oocytes. The findings suggested that gain-of-function CLCN2 mutations increase chloride conductance in zona glomerulosa cells, resulting in depolarization and a subsequent increase in opening of voltage-gated calcium channels that trigger autonomous aldosterone production by increasing intracellular calcium concentrations.
History
Torpy et al. (1998) reported linkage analysis on one of 17 families known to them with familial hyperaldosteronism type II. All affected individuals had negative testing for the CYP11B1/CYP11B2 hybrid gene (202010.0002), known to be responsible for familial hyperaldosteronism type I. Linkage analysis also excluded CYP11B2 (124080) on chromosome 8q21 as a candidate for familial hyperaldosteronism type II.
Lafferty et al. (2000) reported further linkage analysis on the extended kindred originally reported by Torpy et al. (1998). They found linkage between familial hyperaldosteronism type 2 and markers within cytogenetic band 7p22, with a 2-point lod score of 3.26 for markers at loci D7S511 and D7S517 (theta = 0.0) and a multipoint lod score of 3.5 between markers at loci D7S2521 and GATA24F03.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Vascular \- Hypertension LABORATORY ABNORMALITIES \- Increased serum aldosterone \- Increased aldosterone:renin ratio \- Decreased renin \- Hypokalemia (in some patients) MISCELLANEOUS \- Early onset, usually before 20 years of age \- Incomplete penetrance \- Variable expressivity \- Favorable response to spironolactone \- De novo mutation (in some patients) MOLECULAR BASIS \- Caused by mutation in the chloride channel 2 gene (CLCN2, 600570.0010 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HYPERALDOSTERONISM, FAMILIAL, TYPE II | c1854107 | 28,712 | omim | https://www.omim.org/entry/605635 | 2019-09-22T16:11:09 | {"doid": ["446"], "mesh": ["C565312"], "omim": ["605635"], "orphanet": ["404"], "synonyms": ["Alternative titles", "FH II"]} |
Gram-negative bacterial infection
Gram-negative cell wall
SpecialtyInfectious disease
A gram-negative bacterial infection is a disease caused by gram-negative bacteria such as E. coli.[1]
This class is defined morphologically (by the presence of a bacterial outer membrane), and not histologically (by a pink appearance when stained), though the two usually coincide.
One reason for this division is that the outer membrane is of major clinical significance: it can play a role in the reduced effectiveness of certain antibiotics,[2] and it is the source of endotoxin.[3]
The gram status of some organisms is complex or disputed:
* Mycoplasma are sometimes considered gram-negative,[4][5] but because of its lack of a cell wall and unusual membrane composition, it is sometimes considered separately from other gram-negative bacteria.[6]
* Gardnerella is often considered gram-negative,[7] but it is classified in MeSH as both gram-positive and gram-negative.[8] It has some traits of gram-positive bacteria,[9] but has a gram-negative appearance.[10] It has been described as a "gram-variable rod".[11][12]
## References[edit]
1. ^ Cordonnier C, Herbrecht R, Buzyn A, et al. (August 2005). "Risk factors for Gram-negative bacterial infections in febrile neutropenia". Haematologica. 90 (8): 1102–9. PMID 16079110.
2. ^ Pagès JM, Masi M, Barbe J (August 2005). "Inhibitors of efflux pumps in Gram-negative bacteria". Trends Mol Med. 11 (8): 382–9. doi:10.1016/j.molmed.2005.06.006. PMID 15996519.
3. ^ "Introduction: Bacterial Infections: Merck Manual Home Edition".
4. ^ Mycoplasma at the US National Library of Medicine Medical Subject Headings (MeSH)
5. ^ "mycoplasma" at Dorland's Medical Dictionary
6. ^ Sasaki T (April 1991). "Evidence that mycoplasmas, gram-negative bacteria, and certain gram-positive bacteria share a similar protein antigen". J. Bacteriol. 173 (7): 2398–400. doi:10.1128/jb.173.7.2398-2400.1991. PMC 207793. PMID 2007558.
7. ^ "Gardnerella" at Dorland's Medical Dictionary
8. ^ Gardnerella at the US National Library of Medicine Medical Subject Headings (MeSH)
9. ^ Sadhu K, Domingue PA, Chow AW, Nelligan J, Cheng N, Costerton JW (July 1989). "Gardnerella vaginalis has a gram-positive cell-wall ultrastructure and lacks classical cell-wall lipopolysaccharide". J. Med. Microbiol. 29 (3): 229–35. doi:10.1099/00222615-29-3-229. PMID 2787405.
10. ^ Cook RL, Reid G, Pond DG, Schmitt CA, Sobel JD (September 1989). "Clue cells in bacterial vaginosis: immunofluorescent identification of the adherent gram-negative bacteria as Gardnerella vaginalis". J. Infect. Dis. 160 (3): 490–6. doi:10.1093/infdis/160.3.490. PMID 2668431.
11. ^ "eMedicine - Gardnerella : Article by Diana Curran". Retrieved 2008-12-07.
12. ^ "eMedicine/Stedman Medical Dictionary Lookup!".[permanent dead link]
## External links[edit]
Classification
D
* MeSH: D016905
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
* Rocky Mountain spotted fever
* Rickettsia conorii
* Boutonneuse fever
* Rickettsia japonica
* Japanese spotted fever
* Rickettsia sibirica
* North Asian tick typhus
* Rickettsia australis
* Queensland tick typhus
* Rickettsia honei
* Flinders Island spotted fever
* Rickettsia africae
* African tick bite fever
* Rickettsia parkeri
* American tick bite fever
* Rickettsia aeschlimannii
* Rickettsia aeschlimannii infection
Mite-borne
* Rickettsia akari
* Rickettsialpox
* Orientia tsutsugamushi
* Scrub typhus
Flea-borne
* Rickettsia felis
* Flea-borne spotted fever
Anaplasmataceae
* Ehrlichiosis: Anaplasma phagocytophilum
* Human granulocytic anaplasmosis, Anaplasmosis
* Ehrlichia chaffeensis
* Human monocytotropic ehrlichiosis
* Ehrlichia ewingii
* Ehrlichiosis ewingii infection
Rhizobiales
Brucellaceae
* Brucella abortus
* Brucellosis
Bartonellaceae
* Bartonellosis: Bartonella henselae
* Cat-scratch disease
* Bartonella quintana
* Trench fever
* Either B. henselae or B. quintana
* Bacillary angiomatosis
* Bartonella bacilliformis
* Carrion's disease, Verruga peruana
β
Neisseriales
M+
* Neisseria meningitidis/meningococcus
* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
* Melioidosis
* Burkholderia mallei
* Glanders
* Burkholderia cepacia complex
* Bordetella pertussis/Bordetella parapertussis
* Pertussis
γ
Enterobacteriales
(OX−)
Lac+
* Klebsiella pneumoniae
* Rhinoscleroma, Pneumonia
* Klebsiella granulomatis
* Granuloma inguinale
* Klebsiella oxytoca
* Escherichia coli: Enterotoxigenic
* Enteroinvasive
* Enterohemorrhagic
* O157:H7
* O104:H4
* Hemolytic-uremic syndrome
* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
* Serratia infection
* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
* Typhoid fever, Paratyphoid fever, Salmonellosis
H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
* Shigellosis, Bacillary dysentery
* Proteus mirabilis/Proteus vulgaris
* Yersinia pestis
* Plague/Bubonic plague
* Yersinia enterocolitica
* Yersiniosis
* Yersinia pseudotuberculosis
* Far East scarlet-like fever
Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
* Legionnaires' disease
* Coxiella burnetii
* Q fever
Thiotrichales
* Francisella tularensis
* Tularemia
Vibrionaceae
* Vibrio cholerae
* Cholera
* Vibrio vulnificus
* Vibrio parahaemolyticus
* Vibrio alginolyticus
* Plesiomonas shigelloides
Pseudomonadales
* Pseudomonas aeruginosa
* Pseudomonas infection
* Moraxella catarrhalis
* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
* v
* t
* e
Bacterial diseases due to gram negative non-proteobacteria (BV4)
Spirochaete
Spirochaetaceae
Treponema
* Treponema pallidum
* Syphilis/bejel
* Yaws
* Treponema carateum (Pinta)
* Treponema denticola
Borrelia
* Borrelia burgdorferi/Borrelia afzelii
* Lyme disease
* Erythema migrans
* Neuroborreliosis
* Borrelia recurrentis (Louse borne relapsing fever)
* Borrelia hermsii/Borrelia duttoni/Borrelia parkeri (Tick borne relapsing fever)
Leptospiraceae
Leptospira
* Leptospira interrogans (Leptospirosis)
Chlamydiaceae
Chlamydia
* Chlamydia psittaci (Psittacosis)
* Chlamydia pneumoniae
* Chlamydia trachomatis
* Chlamydia
* Lymphogranuloma venereum
* Trachoma
Bacteroidetes
* Bacteroides fragilis
* Tannerella forsythia
* Capnocytophaga canimorsus
* Porphyromonas gingivalis
* Prevotella intermedia
Fusobacteria
* Fusobacterium necrophorum (Lemierre's syndrome)
* Fusobacterium nucleatum
* Fusobacterium polymorphum
* Streptobacillus moniliformis (Rat-bite fever/Haverhill fever)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gram-negative bacterial infection | c0085423 | 28,713 | wikipedia | https://en.wikipedia.org/wiki/Gram-negative_bacterial_infection | 2021-01-18T18:33:56 | {"mesh": ["D016905"], "wikidata": ["Q19597369"]} |
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.
People with OSMED are often shorter than average because the long bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life.
Severe high-frequency hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Almost all affected infants are born with an opening in the roof of the mouth (a cleft palate).
## Frequency
This condition is rare; its prevalence is unknown. Only a few families with OSMED worldwide have been described in the medical literature.
## Causes
OSMED is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between vertebrae.
The COL11A2 gene mutations that cause OSMED disrupt the production or assembly of type XI collagen molecules. The defective collagen weakens connective tissues in many parts of the body, including the long bones, spine, and inner ears, which impairs bone development and underlies the other signs and symptoms of this condition.
### Learn more about the gene associated with Otospondylomegaepiphyseal dysplasia
* COL11A2
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Otospondylomegaepiphyseal dysplasia | c4520892 | 28,714 | medlineplus | https://medlineplus.gov/genetics/condition/otospondylomegaepiphyseal-dysplasia/ | 2021-01-27T08:25:21 | {"gard": ["4130"], "mesh": ["C536140"], "omim": ["215150"], "synonyms": []} |
Not to be confused with Sutton's disease.
White–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of the human body. It is mainly characterized by developmental delay, intellectual disability, craniofacial abnormalities and commonly features of autism spectrum disorder (ASD).[1]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Epidemiology
* 4 History
* 5 References
## Presentation[edit]
Patients with White–Sutton syndrome might have the following symptoms:[1]
* Developmental delay, with speech and language usually being more delayed than motor skills such as walking.
* Intellectual disability which can range from borderline normal to severe.
* Craniofacial features include microcephaly, brachycephaly, hypertelorism, midface hypoplasia (a flat or sunken appearance of the middle of the face)
* Neuropsychiatric: hyperactivity, sleeping difficulties
* Features of autism spectrum disorder and overly friendly behavior.
* Sensorineural hearing loss and visual defects (mainly farsightedness, strabismus)
* Gastrointestinal problems (e.g. poor feeding, gastroesophageal reflux, constipation)[2]
* Obesity, short stature
* Diaphragmatic hernia
## Genetics[edit]
It is caused by heterozygous mutation in the POGZ gene on chromosome 1q21. The condition is inherited in an autosomal dominant pattern.[3]
## Epidemiology[edit]
This condition is considered to be rare with ~50 cases reported in the literature.[4]
## History[edit]
White–Sutton syndrome is named for doctors Janson White, Ph.D and V. Reid Sutton, M.D.[5] In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, Sutton worked with graduate student Janson White on the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, first detailed in White's paper, "POGZ truncating alleles cause syndromic intellectual disability"[6] in January 2016. In June 2016, the Online Mendelian Inheritance in Man (OMIM) designated this as “White–Sutton syndrome”.
## References[edit]
1. ^ a b Reference, Genetics Home. "White-Sutton syndrome". Genetics Home Reference. Retrieved 2018-11-23.
2. ^ "WHITE-SUTTON SYNDROME; WHSUS | MENDELIAN.CO". www.mendelian.co (in Spanish). Retrieved 2018-11-23.
3. ^ "OMIM Entry - # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.
4. ^ Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Lupski JR, Sutton VR (2019) Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A
5. ^ "Meet the Doctors". White Sutton Syndrome Foundation. Retrieved 2019-07-18.
6. ^ White, Janson; Beck, Christine R.; Harel, Tamar; Posey, Jennifer E.; Jhangiani, Shalini N.; Tang, Sha; Farwell, Kelly D.; Powis, Zöe; Mendelsohn, Nancy J. (2016-01-06). "POGZ truncating alleles cause syndromic intellectual disability". Genome Medicine. 8 (1): 3. doi:10.1186/s13073-015-0253-0. ISSN 1756-994X. PMC 4702300. PMID 26739615.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| White Sutton syndrome | c4225351 | 28,715 | wikipedia | https://en.wikipedia.org/wiki/White_Sutton_syndrome | 2021-01-18T19:08:00 | {"umls": ["C4225351"], "orphanet": ["468678"], "wikidata": ["Q50349641"]} |
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: "Tethered spinal cord syndrome" – news · newspapers · books · scholar · JSTOR (December 2017) (Learn how and when to remove this template message)
Tethered spinal cord syndrome
Other namesOccult spinal dysraphism sequence
SpecialtyNeurosurgery
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.[1] Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord.[1] The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated.[1] TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
## Contents
* 1 Signs and symptoms
* 1.1 Related disorders
* 2 Cause
* 2.1 Spina bifida
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 References
* 8 External links
## Signs and symptoms[edit]
In children, symptoms may include:
* Lesions, hairy patches, dimples, or fatty tumours on the lower back
* Foot and spinal deformities[2]
* Weakness in the legs[2] (loss of muscle strength and tone)
* Change in or abnormal gait including awkwardness while running or wearing the tips or side of one shoe[2]
* Low back pain[2]
* Scoliosis[2] (abnormal curvature of the spine to the left or right)
* Urinary irregularities (incontinence or retention)[2]
Tethered spinal cord syndrome may go undiagnosed until adulthood, when sensory, motor, bowel, and bladder control issues emerge. This delayed presentation of symptoms relates to the degree of strain on the spinal cord over time.
Tethering may also develop after spinal cord injury. Scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement or feeling, or the onset of pain or autonomic nervous system symptoms.
In adults, onset of symptoms typically include:
* Severe pain (in the lower back and radiating into the legs, groin, and perineum)
* Bilateral muscle weakness and numbness
* Loss of feeling and movement in lower extremities
* Urinary irregularities (incontinence or retention)
* Bowel control issues
Neurological symptoms can include a mixed picture of upper and lower motor neuron findings, such as amyotrophy, hyperreflexia, and pathologic plantar response, occurring in the same limb. Profound sensory changes, such as loss of pain, temperature, and proprioceptive sensations, are common. Last, progressive symptoms of a neuropathic bladder are noted on over 70% of adult patients, versus only 20% to 30% of children. These symptoms include urinary frequency and urgency, feeling of incomplete voiding, poor voluntary control, and urge and stress incontinence. Chronic recurrent infections are common and occasionally lead to nephrolithiasis (kidney stones), kidney failure, or kidney transplantation. Female patients also give a history of ineffective labor and postpartum rectal prolapse, presumably due to an atonic pelvic floor.[3]
### Related disorders[edit]
* Kyphosis
* Brain herniation
* Spina Bifida
* Ehlers-Danlos syndrome
* Klippel-Feil syndrome
## Cause[edit]
Tethered spinal cord can be caused by various conditions but the main cause is when tissue attachments limit the movement of the spinal cord in the spinal column which causes abnormal stretching of the cord. The tethered spinal cord syndrome is correlated with having the causes:
* Spina bifida
* Occulta
* Mylomeningocele
* Meningocele
* History of spinal trauma
* History of spinal surgery
* Tumor(s) in the spinal column
* Thickened and/or tight filum terminale
* Lipoma(s) in the spinal column
* Dermal Sinus Tract (congenital deformity)
* Diastematomyelia (split spinal cord)[4]
Tethered spinal cord is a disorder and not a mechanism so it does not spread to other people and there are no measures that can be done to prevent it beforehand. The only preventative measure that is successful is to surgically untether the spinal cord though there might already be irreversible damage.[5]
### Spina bifida[edit]
In tethered spinal cord cases spina bifida can be accompanied by tethering of the spinal cord but in rare cases with Spina bifida occulta. Tethering of the spinal cord tends to occur in the cases of Spina bifida with mylomeningocele. In most people the spine grows faster than the spinal cord during development which causes the end of the spinal cord to appear to rise relative to the bony spine next to it. By the time of birth the spinal cord is located between L1 and L2. In a baby with Spina bifida the spinal cord is still attached to the skin around it preventing it from rising properly. This occurs because the spinal cord in a child with Spina bifida is low lying and tethered at the bottom. At the time of birth the mylomeningocele is separated from the skin but the spinal cord is still stuck in the same place. As the child begins to grow the spinal cord remains in the same place becoming stretched out causing the tight cord and the tethering at the end. With this type of tethering there is an interference with the blood supply to the nerves and body which can then cause the deterioration of the body causing orthopedic, neurological, and urological problems. With milder forms of Spina bifida such as Occulta, may be related to the degree of strain on the cord which can become worse with physical activity, injury, pregnancy, bone spurs, or spinal stenosis. The tethered cord in this case might not be diagnosed until adulthood when it worsens and can still cause neurological, orthopedic, and urological dysfunctions.[5]
## Mechanism[edit]
Tethered spinal cord syndrome is a clinical entity which is manifested by progressive motor and sensory changes in:
* legs
* incontinence
* back of leg pain
* scoliosis
In order to understand the pathophysiology that is involved in a tethered spinal cord, the reduction/oxidation ratio has to be used in vivo of cytochrome alpha and alpha 3 to signal the oxidative metabolic functioning in humans. Studies have found that marked metabolic and electrophysiological susceptibility to hypoxic stress to the lumbar and sacral portion of the spinal cord under traction with various weights. Similar effects were found in redox behavior of tethered spinal cord during the surgical procedures to repair it. This can be due to impairment of mitochondrial oxidative metabolism under constant or intermittent stretching. The act of prolonged stretching can lead to structural damage to the neural perikarya and eventually the axons in neurons. The untethering process can improve the oxidative metabolism and can help to repair injured neurons.[6]
## Diagnosis[edit]
For children younger than eight weeks of age (and possibly in utero), a tethered cord may be observed using ultrasonography. Ultrasonography may still be useful through age 5 in limited circumstances. [7]
MRI imaging appears to be the gold standard for diagnosing a tethered cord.[8][9]
A tethered cord is often diagnosed as a "low conus." The conus medullaris (or lower termination of the spinal cord) normally terminates at or above the L1-2 disk space (where L1 is the first, or topmost lumbar vertebra). After about 3 months of age, a conus below the L1-2 disk space may indicate a tethered cord and termination below L3-4 is unmistakably tethered. "Cord tethering is often assumed when the conus is below the normal L2-3 level.
TCS, however, is a clinical diagnosis that should be based on "neurological and musculoskeletal signs and symptoms. Imaging features are in general obtained to support rather than make the diagnosis."[10] Clinical evaluation may include a simple rectal examination and may also include invasive or non-invasive urological examination.[11][12] "Bladder dysfunction occurs in ~40% of patients affected by tethered cord syndrome. ... [I]t may be the earliest sign of the syndrome." [13]
## Treatment[edit]
Because neurological deficits are generally irreversible, early surgery is recommended when symptoms begin to worsen.[14][15] In children, early surgery is recommended[16] to prevent further neurological deterioration, including but not limited to chronic urinary incontinence.
In adults, surgery to detether (free) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Although detethering is the common surgical approach to TCS,[17] another surgical option for adults is a spine-shortening vertebral osteotomy.[17][18] A vertebral osteotomy aims to indirectly relieve the excess tension on the spinal cord by removing a portion of the spine, shortening it. This procedure offers a unique benefit in that the spinal cord remains fixated to the spine, preventing retethering and spinal cord injury as possible surgical complications. However, its complexity and limited “track record” presently keeps vertebral osteotomies reserved as an option for patients who have failed in preventing retethering after detethering procedure(s).[19]
Other treatment is symptomatic and supportive. Medications such as NSAIDs, opiates, synthetic opiates, COX-2 inhibitors, and off-label applications of tricyclic antidepressants combined with anti-seizure compounds have yet to prove they are of value in treatment of this affliction's pain manifestations. There is anecdotal evidence that TENS units may benefit some patients.
Treatment may be needed in adults who, while previously asymptomatic, begin to experience pain, lower back degeneration, scoliosis, neck and upper back problems and bladder control issues. Surgery on adults with minimal symptoms is somewhat controversial. For example, a website from the Columbia University Department of Neurosurgery says, "For the child that has reached adult height with minimal if any symptoms, some neurosurgeons would advocate careful observation only."[1] However, surgery for those who have worsening symptoms is less controversial. If the only abnormality is a thickened, shortened filum, then a limited lumbosacral laminectomy with division of the filum may be sufficient to relieve the symptoms.[20]
This syndrome was first noticed in the late 19th century. While information has been available for years, little widespread blind research has been done. More research has been called for, and doctors have conducted many studies with good results. There is a low morbidity rate, and no complications have been documented other than those typical of any type of back surgery. The association of this condition with others has been noticed, and needs further research to understand such relationships. TCS is causally linked to Chiari malformation and any affirmative diagnosis of TCS must be followed by screening for Chiari's several degrees. TCS may also be related to Ehlers–Danlos syndrome, or Klippel–Feil syndrome, which should also be screened for upon a positive TCS diagnosis. Spinal compression and the resulting relief is a known issue with this disorder. Like with the early-onset form, this disease form is linked to the Arnold–Chiari malformation, in which the brain is pulled or lowers into the top of the spine.[21]
## Prognosis[edit]
The disorder progresses with age, but the aforementioned treatments can help prevent or sometimes relieve symptoms. With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, most neurological and motor impairments are irreversible.[22]
## References[edit]
1. ^ a b c d Tethered Spinal Cord, Columbia University Department of Neurosurgery
2. ^ a b c d e f Sanford Schneider (2009). "Neurological Assessment of Tethered Spinal Cord". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. 44. ISBN 978-1-60406-241-0.
3. ^ "Recurrence of symptoms post-surgery". Chiari Online Support Group. Retrieved 2017-12-12.
4. ^ "AANS | Tethered Spinal Cord Syndrome". www.aans.org. Retrieved 2017-11-07.
5. ^ a b "Spinal Cord Tethering A common cause of deterioration in Spina Bilda" (PDF). Spina Bifida Association.
6. ^ Yamada, S.; Zinke, D. E.; Sanders, D. (April 1981). "Pathophysiology of "tethered cord syndrome"". Journal of Neurosurgery. 54 (4): 494–503. doi:10.3171/jns.1981.54.4.0494. ISSN 0022-3085. PMID 6259301.
7. ^ Nelson, Jr., Marvin D. (2010). "Ultrasonic Evaluation of Tethered Cord Syndrome". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. p. 72. ISBN 978-1-60406-241-0. "After the patient reaches 5 years of age, it becomes increasingly difficult to image the thoracic spinal cord to adequately evaluate pulsations."
8. ^ Nelson, Jr., Stephen L. (6 October 2013). "Clinical Summary: Tethered Spinal Cord". Medlink.
9. ^ Hinshaw Jr., David B. (2010). "Imaging of Tethered Spinal Cord". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. p. 51. ISBN 978-1-60406-241-0. "In the mid- and late 1980s, magnetic resonance imaging (MRI) developed to a degree that allowed visualization of the spinal anatomy without the use of x-radiation or subarachnoid injection of contrast agents. It has emerged as the most useful noninvasive modality, providing excellent detail of anatomy and characterization of soft tissue anomalies. ... MRI has become the primary imaging modality for tethered cords and has both facilitated earlier diagnosis and tailored treatment of these disorders."
10. ^ Khoury, Antoine E. (2010). "Clinical Experience in Urological Involvement with Tethered Cord Syndrome". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. p. 90. ISBN 978-1-60406-241-0. "The diagnosis of TCS is primarily based on neurological and musculoskeletal signs and symptoms. Imaging features are in general obtained to supportrather than make the diagnosis. MRI has revolutionized the noninvasive evaluation of spinal cord lesions. The major obstacle to obtaining an MRI in children is the need for sedation or general anesthesia. Patients with tethered cord have displacement of the conus and elongation of the cord, with a sometimes thickened or fatty density in the filum."
11. ^ Kitchens DM, Herndon CD, Joseph DB (2007). "Pediatric urodynamics: basic concepts for the neurosurgeon". Neurosurg Focus. 23 (2): E8. doi:10.3171/FOC-07/08/E8. PMID 17961012.
12. ^ Hadley, H. Roger (2010). "Lower Urinary Tract Dysfunction in Tethered Cord Syndrome". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. p. 77. ISBN 978-1-60406-241-0. "Urodynamic testing has emerged as the quintessential evaluation to explicitly identify, document, and quantify the effects of neurological dysfunction on the urinary system."
13. ^ Hadley, H. Roger (2010). "Lower Urinary Tract Dysfunction in Tethered Cord Syndrome". In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). Thieme Medical Publishers, Inc. p. 47. ISBN 978-1-60406-241-0.
14. ^ "TETHERED CORD SYNDROME".
15. ^ Iskandar BJ, Fulmer BB, Hadley MN, Oakes WJ (2001). "Congenital tethered spinal cord syndrome in adults". Neurosurgical Focus. 10 (1): 1–5. doi:10.3171/foc.2001.10.1.8. PMID 16749759.
16. ^ "Tethered spinal cord syndrome". National Institutes of Health. Retrieved 2008-08-28.
17. ^ a b Kokubun, S.; Ozawa, H.; Aizawa, T.; Ly, N. M.; Tanaka, Y (July 2011). "Spine-shortening osteotomy for patients with tethered cord syndrome caused by lipomyelomeningocele". Journal of Neurosurgery: Spine. 15 (1): 21–27. doi:10.3171/2011.2.SPINE10114. PMID 21495816.
18. ^ Miyakoshi, N.; Abe, E.; Suzuki, T.; Kido, T.; Chiba, M.; Shimada, Y. (2009). "Spine-shortening vertebral osteotomy for tethered cord syndrome: report of three cases". Spine. 34 (22): E823–E825. doi:10.1097/BRS.0b013e3181af2607. PMID 19829247.
19. ^ Shih, P.; Halpin, R.; Ganju, A.; Liu, J.; Koski, T. (2010). "Management of Recurrent Adult Tethered Cord Syndrome". Neurosurgical Focus. 29 (1): E5. doi:10.3171/2010.3.FOCUS1073. PMID 20594003.
20. ^ "Adult Tethered Cord". UCLA. Retrieved 2 July 2013.
21. ^ Wehby MC, O'Hollaren PS, Abtin K, Hume JL, Richards BJ (2004). "Occult tight filum terminale syndrome: results of surgical untethering". Pediatric Neurosurgery. 40 (2): 51–7, discussion 58. doi:10.1159/000078908. PMID 15292632.
22. ^ Fitzgerald, Kevin. "Tethered spinal cord syndrome".[unreliable medical source?]
## External links[edit]
Classification
D
* ICD-10: Q06.8
* ICD-9-CM: 742.59
* DiseasesDB: 34471
* National institute of Health page
* v
* t
* e
Congenital malformations and deformations of nervous system
Brain
Neural tube defect
* Anencephaly
* Acephaly
* Acrania
* Acalvaria
* Iniencephaly
* Encephalocele
* Chiari malformation
Other
* Microcephaly
* Congenital hydrocephalus
* Dandy–Walker syndrome
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* Lissencephaly
* Microlissencephaly
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* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
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Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
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clavicle / shoulder
* Cleidocranial dysostosis
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fingers and toes
* Polydactyly / Syndactyly
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* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
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multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
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* Crouzon syndrome
* Hypertelorism
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* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Tethered spinal cord syndrome | c0080178 | 28,716 | wikipedia | https://en.wikipedia.org/wiki/Tethered_spinal_cord_syndrome | 2021-01-18T18:35:44 | {"gard": ["4018"], "mesh": ["D016135"], "umls": ["C0080178"], "orphanet": ["268861"], "wikidata": ["Q386346"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to ketosis-prone diabetes mellitus is conferred by homozygous mutation in the PAX4 gene (167413) on chromosome 7q32. One patient has been found to be heterozygous for mutation in PAX4.
Description
In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).
Clinical Features
Maldonado et al. (2003) studied 103 patients with diabetic ketoacidosis (DKA), classifying them into 4 groups according to the presence or absence of autoimmune markers for type 1 diabetes (A+ or A-) and the presence or absence of beta-cell functional reserve (beta+ or beta-). There were 18 patients in the A+beta- group, 23 in the A-beta- group, 11 in the A+beta+ group, and 51 in the A-beta+ group. Collectively, the 2 beta- groups differed from the 2 beta+ groups in earlier onset and longer duration of diabetes, lower body mass index (BMI), less glycemic improvement, and persistent insulin requirement. HLA class II genotyping showed that the A-beta- group differed from the A+beta- group in having significantly lower frequencies of 2 alleles strongly associated with autoimmune type 1 diabetes susceptibility, DQA*03 (see 146880) and DQB1*02 (see 604305). Similarly, the A-beta+ group differed from the A+beta+ group in having a lower frequency of DQB1*02. Maldonado et al. (2003) concluded that ketosis-prone diabetes comprises at least 4 etiologically distinct syndromes separable by autoantibody status, HLA genotype, and beta-cell functional reserve.
Umpierrez et al. (2006) reviewed the diagnostic and clinical features of patients with ketosis-prone diabetes mellitus from 9 published studies. The authors stated that more than half of African Americans with a new diagnosis of diabetic ketoacidosis have clinical, metabolic, and immunologic features of type 2 diabetes on follow-up, and that this clinical presentation is also observed in Hispanic individuals and those from other minority ethnic groups. The patients are usually obese, have a strong family history of diabetes, have a low prevalence of autoimmune markers, and lack a genetic association with HLA. The onset of disease is acute, with a few days to weeks of polyuria, polydipsia, and weight loss, and there is no precipitating cause for the metabolic decompensation. At presentation, patients have markedly impaired insulin secretion and insulin action, but intense diabetic management results in significant improvement in beta-cell function and insulin sensitivity, sufficient to allow discontinuation of insulin therapy within a few months of follow-up; the period of near-normoglycemic remission may last for a few months to several years.
Balasubramanyam et al. (2008) reviewed the syndromes of ketosis-prone diabetes mellitus with regard to the natural history, pathophysiology, and treatment of the subgroups of KPD.
Clinical Management
Because of the importance of sustained preservation of beta-cell function to the clinical outcomes of patients with KPD, Balasubramanyam et al. (2006) analyzed clinical, biochemical, and serologic data from 294 consecutive patients presenting with diabetic ketoacidosis (DKA) and classified them according to 4 schemes (using American Diabetes Association (ADA) criteria, modified ADA criteria, a BMI-based scheme, and the 'AB' system), then tested the ability of each classification scheme to predict preserved or absent beta-cell function 12 months after the initial episode of DKA. The 'AB' classification scheme was the most accurate overall, with a sensitivity and specificity of 99.4% and 95.9%, respectively.
Population Genetics
Sobngwi et al. (2002) reviewed published reports of ketosis-prone atypical diabetes and estimated the prevalence of atypical diabetes to be 0.1 to 0.8% in Africa and 1.2 to 1.6% in the Caribbean. The authors suggested that the prevalence might be higher in obese African migrants living in the United States and Europe.
Molecular Genetics
Mauvais-Jarvis et al. (2004) screened 101 unrelated west African patients with KPD for mutations in the PAX4 gene and identified a variant (R133W; 167413.0002), specific to the population of west African ancestry, which predisposes to KPD under a recessive model. Homozygous R133W PAX4 carriers were found in 4% of subjects with KPD, but not in 355 controls or 147 subjects with common type 2 or type 1 diabetes. In addition, 1 Cameroonian KPD patient was heterozygous for a rare PAX4 variant (R37W; 167413.0003) that was not found in 255 controls of west African ancestry and that showed a more severe biochemical phenotype than R133W. Clinical investigation of the homozygous R133W carriers and the R37W carrier demonstrated a more severe alteration in insulin secretory reserve during a glucagon-stimulation test compared to other KPD subjects. Mauvais-Jarvis et al. (2004) concluded that ethnic-specific gene variants may contribute to the predisposition to this particular form of diabetes and suggested that KPD, like maturity-onset diabetes of the young (MODY; see 606391), is a rare, phenotypically defined but genetically heterogeneous form of type 2 diabetes.
In 185 adults presenting with diabetic ketoacidosis who were followed for a mean of 5.5 years with measurements of autoantibodies, beta-cell functional reserve, insulin sensitivity, and insulin requirements, Nalini et al. (2008) analyzed HLA class II alleles at the DQA1, DQB1, and DRB1 (142857) loci. Susceptibility alleles were more frequent in the 2 A+ than in the 2 A- KPD subgroups (p less than 0.0001); in the latter, the frequency was no greater than in controls, except for DQB1*0302. Susceptibility alleles differentiated the 2 clinically similar B- subgroups, being more frequent in A+B- than in A-B- KPD (p less than 0.01). Resistance alleles were more frequent in the 2 B+ than in the 2 B- KPD subgroups (p less than 0.01). The frequencies of certain susceptibility (e.g., DQB1*02) and resistance (DQB1*0602) alleles were higher in African American A-B+ KPD patients than in African American controls. DQB1*0302 was more frequent in all KPD subgroups compared to controls. Nalini et al. (2008) concluded that HLA class II alleles associated with susceptibility or resistance to autoimmune type 1 diabetes help specify the 4 KPD subgroups and may influence long-term beta-cell functional reserve.
Nomenclature
Ketosis-prone diabetes has been classified by the American Diabetes Association as 'idiopathic type 1 diabetes' or 'type 1b' (Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (1997, 2003); American Diabetes Association, 2008).
Kitabchi (2003), commenting on Maldonado et al. (2003), noted that according to the consensus report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (2003), the A+B- group would consist of type 1A diabetes, whereas the A-B- group would be considered type 1B (idiopathic); and that the B+ groups, in which the recurrence of DKA is rare and patients can often be treated with diet or oral agents, have been described globally by various names, including 'Flatbush diabetes,' 'obese DKA,' 'type 2 diabetes mellitus with DKA,' 'newly onset with DKA,' 'idiopathic type 1 diabetes mellitus,' 'atypical diabetes mellitus,' 'type 3 KPD,' and 'KPD B+.'
Umpierrez (2006), commenting on Balasubramanyam et al. (2006), stated that the ADA/WHO classification should be revised to reclassify patients with 'idiopathic' or 'type 1B' diabetes as having 'ketosis-prone type 2 diabetes.'
INHERITANCE \- Autosomal dominant (in 1 patient) \- Autosomal recessive ABDOMEN Pancreas \- Beta-cell dysfunction of varying degrees METABOLIC FEATURES \- Ketoacidosis \- Insulin resistance, variable IMMUNOLOGY \- Autoimmunity to pancreatic beta cells (rare) MISCELLANEOUS \- HLA class II alleles specify ketosis-prone diabetes (KPD) subgroup \- Near-normoglycemic remission for period of months to years without insulin treatment MOLECULAR BASIS \- Susceptibility conferred by mutation in the paired box gene 4 (PAX4, 167413.0022 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| DIABETES MELLITUS, KETOSIS-PRONE | c3837958 | 28,717 | omim | https://www.omim.org/entry/612227 | 2019-09-22T16:02:18 | {"doid": ["1837"], "mesh": ["D003922"], "omim": ["612227"], "icd-10": ["E10"]} |
A number sign (#) is used with this entry because of evidence that Liebenberg syndrome (LBNBG), or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene (602149) on chromosome 5q31.
Description
Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).
Clinical Features
Liebenberg (1973) described 4 males and 6 females in 5 generations of a white South African family with upper limb deformities affecting the fingers, wrists, and elbows. Affected members had dysplasia of all bony components of the elbow causing flexion deformity and an appearance resembling anterior dislocation. At the wrist, anomalies were triquetro-pisiform fusion, small capitate, trapezium and trapezoid, enlarged triquetrum and hamate, and slight flexion and radial deviation. The fingers had short, club-shaped distal phalanges and small, grooved nails. One affected member had bilateral fifth finger camptodactyly (streblomicrodactyly). There were no other bony fusions, tarsal coalition or clubfeet, thus differentiating this disorder from others characterized by carpal synostosis with more extensive bony fusions (see 186400 and 186500). The disorder is also distinct from Banki syndrome (109300) which is characterized by lunatotriquetral fusion, brachymetacarpy, and leptometacarpy with normal elbows. Liebenberg (1973) examined 5 of the 6 living affected members of this kindred. Beighton (1985) reexamined the family with identification of additional affected persons and corroboration of the distinctive phenotype.
Tiberio et al. (2000) described a mother and 2 sons with clinical and radiologic features closely resembling those described by Liebenberg (1973). The bony components of the elbow joints were enlarged and poorly modeled. All 3 patients had a large triquetrum and camptodactyly of the fifth fingers. None of the patients in this family, however, had the triquetopisiform fusion described by Liebenberg (1973), although the children described were too young to have developed the ossification center of the pisiform. Triquetopisiform fusion was not seen in the mother; the fusion was between the scaphoid and lunate. All 3 affected individuals had 10% flexion at the elbows in the anatomic position, with radial deviation of wrist joints. Pronosupination was limited. In addition to camptodactyly, there was brachydactyly of all fingers. The 2 affected children and their mother were of normal intelligence, with normal growth parameters and good general health. Tiberio et al. (2000) suggested that Liebenberg syndrome might be due to mutations in the NOG gene (602991).
By in-depth imaging of skeletal and soft tissue abnormalities of affected members from 3 unrelated families with Liebenberg syndrome, Spielmann et al. (2012) demonstrated that the disorder involves a homeotic limb transformation in which the arms acquire morphologic characteristics of the legs. In affected individuals, the olecranon was hypoplastic or missing, and the distal humerus and the proximal head of the ulna were broadened such that they resembled the distal head of the femur and the proximal head of the tibia, respectively. Three-dimensional CT scans of the humerus showed a medial and lateral condyle separated by an intercondylar fossa resembling the femoral epicondyles of the knee and a patella-like structure fused to the distal head of the humerus. The joint surface of the radius and ulna was flat and resembled that of the tibia and fibula. In addition, the bones of the hand and wrist were highly abnormal, with long metacarpals resembling the metatarsals of the feet, and fusion of the triquetrum and pisiform led to a structure similar in shape to the calcaneus of the ankle. In addition, the scaphoid and lunate bones were fused and formed an element that was similar to the shape of the talus in the ankle, and the extensor minimi digiti and extensor carpi radialis muscles and tendons were absent from the hands.
Inheritance
Male-to-male transmission in the family with upper limb deformities reported by Liebenberg (1973) suggested autosomal dominant inheritance.
Mapping
In a large 7-generation family segregating autosomal dominant Liebenberg syndrome, Spielmann et al. (2012) performed genomewide SNP genotyping and identified a 9.8-Mb candidate region on chromosome 5q23-q31 between markers rs1366100 and rs2107331.
Cytogenetics
In twin sisters with Liebenberg syndrome, in whom there was no evidence of copy-number variation by array CGH analysis, Spielmann et al. (2012) performed paired-end whole-genome sequencing, which revealed a translocation between chromosomes 5 and 18; the predicted t(5;18)(q31.1;q12.3) translocation was confirmed by Sanger sequencing and fluorescence in situ hybridization. The translocation was associated with a 303-bp deletion on chromosome 5 (chr5:134,587,335-134,587,637, GRCh37) and a 350-bp deletion on chromosome 18 (chr18:43,049,294-43,049,643, GRCh37).
Molecular Genetics
In a large 7-generation family with Liebenberg syndrome mapping to chromosome 5q23-q31, Spielmann et al. (2012) performed exome enrichment of the critical region followed by high-throughput sequencing but did not identify a disease-causing mutation. Custom high-resolution array CGH analysis, however, revealed a heterozygous 134-kb deletion (chr5:134,624,602-134,759,492, GRCh37) encompassing the H2AFY gene (610054) and located 269 kb 5-prime of the PITX1 gene (602149). Array CGH analysis in another affected family showed an overlapping heterozygous 107-kb deletion (chr5:134,638,524-134,746,407, GRCh37), also encompassing the H2AFY gene. Because homozygous inactivation of H2AFY in mice leads to hepatic accumulation of lipids but does not result in a bone or limb phenotype, Spielmann et al. (2012) concluded that its deletion was unlikely to be causative. However, the deletions in both families relocated a highly conserved noncoding enhancer element, hs1473, into the gene desert 5-prime of PITX1, potentially affecting PITX1 expression. In a third family in which affected twin sisters had a t(5;18)(q31.1;q12.3) translocation, 2 highly conserved noncoding elements on chromosome 18, hs1464 and hs1440, were translocated upstream of PITX1 on the derivative chromosome 5. The authors demonstrated that all 3 enhancer elements had forelimb-specific activity in mouse embryos, and transgenic hs1473-Pitx1 mice showed features characteristic of Pitx1 misexpression at embryonic day 15.5, with forelimb-to-hindlimb transformation (see ANIMAL MODEL). Spielmann et al. (2012) hypothesized that the arm-to-leg transformation observed in affected members of the 3 families segregating Liebenberg syndrome was due to misexpression of PITX1 in the upper extremities.
In an Italian woman and her 2 sons with mild Liebenberg syndrome, originally reported by Tiberio et al. (2000), Kragesteen et al. (2019) performed whole-genome sequencing and identified an 8.5-kb deletion (chr5:134,729,406-134,737,909; GRCh37) spanning the noncoding first exon of the H2AFY gene that segregated with disease in the family. Using CRISPR-Cas9 engineering in mice, the authors demonstrated that the promoter of the H2afy gene insulates the Pitx1 enhancer Pen from Pitx1 in forelimbs, whereas loss of the H2afy promoter results in misexpression of Pitx1 by pan-limb activity of the Pen enhancer. The level of Pitx1 mRNA determines the severity of the phenotype in mice, and the authors suggested that this may occur in the human Liebenberg phenotype, whereby the closer Pen is placed in a linear relation to PITX1, the more complete the transformation of arms into legs.
Animal Model
Spielmann et al. (2012) generated single-copy hs1473-Pitx1 transgenic mice and observed that at embryonic day 15.5, the mutant mice showed characteristic features of Pitx1 misexpression resulting in a forelimb-to-hindlimb transformation. The mice showed loss of the olecranon, thus recapitulating the Liebenberg phenotype. Only 1 zeugopod bone was present. The distal head of the humerus was more similar to the distal femur, and the shape of the proximal head of the single zeugopodal element resembled the shape of the proximal tibia. Two digits were missing, and the remaining digit I had 2 phalanges and was fused to the metacarpal of digit II. Fusions of the carpals formed a structure similar in shape to the calcaneus of the hindlimb. The fusion of the carpals and radial deviation of the hands caused a foot-like appearance of the forelimb.
INHERITANCE \- Autosomal dominant SKELETAL Limbs \- Elbow flexion deformity \- Enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae) Hands \- Radially deviated wrists \- Brachydactyly \- Fifth finger camptodactyly \- 2-3 finger syndactyly \- Large triquetrum \- Scaphoid-lunate fusion \- Triquetro-pisiform fusion \- Abnormal carpal bones MOLECULAR BASIS \- Caused by complex genomic rearrangement resulting in misexpression of the paired-like homeodomain transcription factor-1 gene (PITX1, 602149 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| LIEBENBERG SYNDROME | c1861313 | 28,718 | omim | https://www.omim.org/entry/186550 | 2019-09-22T16:45:41 | {"mesh": ["C566090"], "omim": ["186550"], "orphanet": ["1275"], "synonyms": ["SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY", "Liebenberg syndrome", "Brachydactyly-joint dysplasia syndrome", "Alternative titles", "BRACHYDACTYLY WITH JOINT DYSPLASIA"]} |
Piebaldism is a rare inherited condition characterized by a white forelock (a patch of white hair directly above the forehead). The name piebaldism is derived from the words “pie” (from magpie, which is a black and white bird) and “bald” (from the bald eagle, the US national bird that has a white feathered head). Other features include a white patch on the central portion of the forehead; white eyebrow and eyelash hair; and white patches of skin on the face (particularly the chin), trunk and extremities (hands and feet are not usually affected). This condition is present at birth and usually remains unchanged throughout life. It is inherited in an autosomal dominant fashion and is caused by mutations in the KIT 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Piebaldism | c0080024 | 28,719 | gard | https://rarediseases.info.nih.gov/diseases/4344/piebaldism | 2021-01-18T17:58:20 | {"mesh": ["D016116"], "omim": ["172800"], "umls": ["C0080024"], "orphanet": ["2884"], "synonyms": ["PBT"]} |
## Description
Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Cytogenetics
Selicorni et al. (2002) reported clinical and cytogenetic analyses of an Italian family in which a cryptic chromosomal translocation allowed the assignment of a novel WS2 locus, WS2C, to chromosome 8p23. In this family, a balanced translocation between 4p and 8p was found. WS2C segregated with the derivative chromosome 8 from the balanced translocation. Cytogenetic analysis by painting and subtelomeric probe hybridization positioned the breakpoint at 8pter-p22. Fluorescence in situ hybridization with YACs from a contig spanning the 8pter-p21 region refined the breakpoint to 8p23. Mutation analysis excluded involvement of the MITF gene (156845). The family contained one individual with Wolf-Hirschhorn syndrome (194190) due to deletion of the terminal portion of the short arm of chromosome 4.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| WAARDENBURG SYNDROME, TYPE 2C | c3266898 | 28,720 | omim | https://www.omim.org/entry/606662 | 2019-09-22T16:10:16 | {"doid": ["0110951"], "mesh": ["D014849"], "omim": ["606662"], "orphanet": ["3440", "895"], "synonyms": ["Alternative titles", "WAARDENBURG SYNDROME, TYPE IIC"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-1 (MVCD1) is associated with variation in the VEGF gene (192240) on chromosome 6p21.
For information on genetic heterogeneity of susceptibility to microvascular complications of diabetes, see MAPPING and MOLECULAR GENETICS sections.
Pathogenesis
Ogata et al. (2002) examined the vitreous from 29 patients with diabetic retinopathy and 14 patients with macular hole (MH) who underwent vitrectomy and found significant differences in levels of pigment epithelium-derived factor (PEDF) (SERPINF1; 172860) and VEGF between eyes with different phenotypes: PEDF was lower in eyes with diabetic retinopathy than in MH eyes, and VEGF, which was higher in eyes with active or proliferative diabetic retinopathy than in eyes with inactive or nonproliferative diabetic retinopathy, was undetectable in MH eyes. The authors suggested that lower levels of PEDF and higher levels of VEGF may be related to the angiogenesis in diabetic retinopathy that leads to active proliferative diabetic retinopathy.
Simo et al. (2002) found that both free insulin-like growth factor I (IGF1; 147440) and VEGF were increased in the vitreous fluid of diabetic patients with proliferative diabetic retinopathy. The elevation of IGF1 was unrelated to the elevation of VEGF in these patients. The authors suggested that VEGF is directly involved in the pathogenesis of proliferative diabetic retinopathy, whereas the precise role of free IGF1 remained to be established.
Watanabe et al. (2005) investigated the involvement of angiopoietin-2 (ANGPT2; 601922) and VEGF in the angiogenesis of proliferative diabetic retinopathy (PDR). The vitreous level of ANG2 and VEGF were significantly higher in patients with PDR than in controls, and both ANG2 and VEGR levels in eyes with active PDR were significantly higher than in those with inactive PDR. The vitreous concentration of ANG2 correlated significantly with that of VEGF, suggesting an association of ANG2 and VEGF with angiogenic activity in PDR.
Freedman et al. (2007) reviewed the inherited aspects of diabetic kidney disease with particular emphasis on implicated genes and pathways.
### Possible Contributing Factors
McLaren et al. (1977) found a significantly higher proportion of fast acetylators (243400) in a group of diabetics without neuropathy than in those with neuropathy or in the normal population.
Carr and Markham (1995) stated that the accumulation and toxicity of sorbitol in specific tissues had been implicated in the development of microvascular problems in some diabetic patients. Inappropriate sorbitol accumulation in some patients may be the result of polymorphic variation in the human SORD gene, causing reduced expression levels or enzymatic activity.
Epidemiologic studies in patients with insulin-dependent diabetes (IDDM; 222100) and noninsulin-dependent diabetes mellitus (NIDDM; 125853) are consistent with the hypothesis that a genetic factor influences the risk for kidney disease of diabetes mellitus. Shah et al. (1997) analyzed aldose reductase (AKR1B1; 103880) expression in diabetics and nondiabetics with and without nephropathy and found significant differences in AKR1B1:beta-actin mRNA ratios between both diabetics and nondiabetics with kidney disease and controls. They concluded that the degree of AKR1B1 gene expression modulates the risk for nephropathy in IDDM subjects.
Krolewski (1999) reviewed evidence for major and minor gene effects in diabetic nephropathy. They included a diagram from Quinn et al. (1996) showing that the cumulative risk of the development of persistent proteinuria or end-stage renal disease in IDDM sibs of index cases with diabetic nephropathy was much greater than that for IDDM sibs of index cases without nephropathy. Diabetic nephropathy does not develop in the absence of hyperglycemia; however, even in the presence of poorly controlled diabetes, less than one-half of the patients with IDDM develop this complication.
As reviewed by Reeves and Andreoli (2000), transforming growth factor-beta (TGFB1; 190180) contributes to progressive diabetic nephropathy. Further strong indications of the role of TGF-beta were provided by Ziyadeh et al. (2000), who studied chronic administration of anti-TGF-beta antibody in the db/db mouse, a model of type II diabetes (125853) that develops overt nephropathy, and observed that the treatment prevented the increase in plasma creatinine concentration, the decrease in urinary creatinine clearance, and the expansion of mesangial matrix in db/db mice. Chen et al. (2003) found that treatment with anti-TGFB antibody partly reversed glomerular basement membrane thickening and mesangial matrix accumulation in db/db mice.
TGFB1 stimulates the expression of SGK1 (602958). Lang et al. (2000) demonstrated markedly enhanced transcription of SGK1 in diabetic nephropathy, with particularly high expression in mesangial cells, interstitial cells, and cells in the thick ascending limbs of the loop of Henle and distal tubules. The enhanced SGK1 transcription, which results from excessive extracellular glucose concentrations, stimulates renal tubular Na(+) transport, revealing an additional element in the pathophysiology of diabetic nephropathy.
Bierhaus et al. (2004) examined sural nerve biopsies of patients with diabetic neuropathy and found that RAGE (AGER; 600241), ligands of RAGE, activated NFKB1 (164011), and interleukin-6 (IL6; 147620) colocalized in the microvasculature.
In patients with proliferative diabetic retinopathy, Butler et al. (2005) demonstrated that SDF1 (CXCL12; 600835) concentrations were significantly increased in the vitreous and correlated with disease severity. Treatment of patients with triamcinolone decreased SDF1 levels in the vitreous with marked disease improvement. In a mouse model of proliferative diabetic retinopathy, levels of SDF1 matching those in patients induced retinopathy in the mice, and intravitreal injection of blocking antibodies to SDF1 prevented retinal neovascularization. Butler et al. (2005) concluded that SDF1 plays a major role in proliferative retinopathy.
Gao et al. (2007) performed proteomic analysis on vitreous fluid samples and found that the carbonic anhydrase I (CA1; 114800) concentration from patients with diabetic retinopathy was 15.3 and 8.2 times higher than that from nondiabetic patients and diabetics with no diabetic retinopathy, respectively. Intravitreous injection of CA1 in rats increased retinal vessel leakage and caused intraretinal edema and subdural infusion of CA1 in rats induced cerebral vascular permeability.
In a cultured bovine retinal pericyte model, Geraldes et al. (2009) demonstrated that hyperglycemia persistently activates PRKCD (176977) and p38-alpha MAPK (MAPK14; 600289), thus increasing expression of SHP1 (PTPN6; 176883), and that this occurs independently of NFKB activation. This signaling cascade leads to PDGF receptor-beta (PDGFRB; 173410) dephosphorylation and a reduction in downstream signaling from this receptor, resulting in pericyte apoptosis, the most specific vascular histopathology associated with diabetic complications. The authors observed increased PRKCD activity and an increase in the number of acellular capillaries in diabetic mouse retinas, which were not reversible with insulin treatment that achieved normoglycemia. Unlike diabetic age-matched wildtype mice, diabetic Prkcd -/- mice did not show activation of MAPK14 or SHP1, inhibition of PDGFB (190040) signaling in vascular cells, or the presence of acellular capillaries. The authors also observed PRKCD, MAPK14, and SHP1 activation in brain pericytes and in the renal cortex of diabetic mice. Geraldes et al. (2009) concluded that this represents a new signaling pathway by which hyperglycemia can induce PDGFB resistance and increased vascular cell apoptosis to cause diabetic vascular complications.
Mapping
### MVCD1 on Chromosome 6p12
Susceptibility to microvascular complications of diabetes-1 is associated with variation in the VEGF gene (192240) on chromosome 6p12.
### MVCD2 on Chromosome 7q21
See MVCD2 (612623) for a microvascular complications of diabetes susceptibility locus on chromosome 7q21. This locus is associated with variation in the EPO gene (133170).
### MVCD3 on Chromosome 17q23
See MVCD3 (612624) for a microvascular complications of diabetes susceptibility locus on chromosome 17q23. This locus is associated with variation in the ACE gene (106180).
### MVCD4 on Chromosome 2q14.2
See MVCD4 (612628) for a microvascular complications of diabetes susceptibility locus on chromosome 2q14.2. This locus is associated with variation in the IL1RN gene (147679).
### MVCD5 on Chromosome 7q21.3
See MVCD5 (612633) for a microvascular complications of diabetes susceptibility locus on chromosome 7q21.3. This locus is associated with variation in the PON1 gene (168820).
### MVCD6 on Chromosome 6p25.3
See MVCD6 (612634) for a microvascular complications of diabetes susceptibility locus on chromosome 6p25.3. This locus is associated with variation in the SOD2 gene (147460).
### MVCD7 on Chromosome 6p21.3
See MVCD7 (612635) for a microvascular complications of diabetes susceptibility locus on chromosome 6p21.3. This locus is associated with variation in the HFE gene (see 235000).
### Mapping Pending Confirmation
Chromosome 2p21
In a genomewide association study of 112 individuals with type 1 diabetes and nephropathy and 148 type 1 diabetics without nephropathy, all of whom had the 2 most common HLA class II diplotypes DR3 and DR4 (see 142860), Greene et al. (2008) found suggestive linkage to SNPs mapping near the PLEKHH2 locus on chromosome 2p21 (612723). Linkage analysis of additional SNPs and transmission disequilibrium testing in 246 case-trio families revealed a SNP (rs11886047), located upstream of the PLEKHH2 promoter, that was associated with diabetic nephropathy (p = 0.0307). Analysis of 601 singleton cases compared to 577 controls showed an increase of heterozygous genotypes in cases compared to controls (p = 0.00256). Greene et al. (2008) suggested that variation in the PLEKHH2 gene may be a genetic risk factor for susceptibility to diabetic nephropathy.
Chromosome 3q
To fine-map a putative locus for diabetic nephropathy on chromosome 3q, He et al. (2009) conducted a multistage case-control association study involving 1,822 type 1 diabetics with nephropathy and 1,874 type 1 diabetics without nephropathy from Finland, Iceland, and the British Isles. The authors found significant association between a variant in the noncoding region on chromosome 3q22 (rs1866813) and increased risk of diabetic nephropathy (combined odds ratio, 1.33; overall p = 7.07 x 10(-6); Bonferroni-adjusted p = 0.0198). The estimated genotypic odds ratios of rs1866813 in all Finnish samples suggested a codominant effect, resulting in significant association (odds ratio, 1.38; p = 4.7 x 10(-5)). In addition, an 11-kb segment flanked by rs62408925 and rs1866813, both strongly correlated with rs1866813, contains 3 elements that are highly conserved across multiple species.
Chromosome 7p14
Shimazaki et al. (2005) performed a genomewide case-control association study involving more than 81,000 SNPs and 94 Japanese patients with diabetic nephropathy (DN) and 94 Japanese diabetics without nephropathy, and identified a SNP in intron 18 (+9170A-G) of the ELMO1 gene (606420) on chromosome 7p14 that was strongly associated with diabetic nephropathy (odds ratio, 3.33; corrected p = 0.017). Mapping of linkage disequilibrium around this SNP revealed a 200-kb block of high LD containing only the ELMO1 gene; screening of ELMO1 identified another 516 polymorphisms which were then analyzed in 640 Japanese DN patients and 426 diabetic controls, with the IVS18 +1970A-G SNP still showing the strongest association (odds ratio, 2.67; p = 8 x 10(-6)).
Chromosome 10p
McKnight et al. (2006) performed genomewide fluorescence-based DNA microsatellite association screening on 200 Irish type 1 diabetics with nephropathy and 200 patients without nephropathy and found significant association with 2 markers on chromosome 10p (D10S558 and D10S1435, corrected p = 0.005 and 0.016, respectively).
Chromosome 18q21.1-q23
Vardarli et al. (2002) performed a genomewide association study in 125 individuals from 18 large Turkish families with type 2 diabetes and diabetic nephropathy and obtained a multipoint lod score of 6.1 for an 8.5-cM interval on chromosome 18q22.3-q23 between markers D18S469 and D18S58, with no indication for locus heterogeneity. Linkage to D18S469 and D18S58 was confirmed in 101 affected Pima Indian sib pairs (p = 0.033).
Bowden et al. (2004) reported linkage of diabetic nephropathy to chromosome 18q21.1-q23 in 166 African American families. McDonough et al. (2009) expanded the linkage analysis using 1 additional microsatellite marker and 48 SNPs in 223 African American families with type 2 diabetes-associated end-stage renal disease and confirmed the previous finding. By dense SNP mapping in the LOD-1 region, spanning chromosome 18q21.1-q22.2, in 1,029 African American type 2 diabetes patients with end-stage renal disease and 1,027 African American controls, McDonough et al. (2009) identified 2 candidate genes: a rs512099 SNP in intron 1 of the NEDD4L gene (606384) was associated under a dominant model of inheritance (p = 0.0006; odds ratio, 0.70), and a rs1720843 SNP in intron 2 of the SERPINB7 gene (603357) was associated under a recessive model of inheritance (p = 0.0017; odds ratio, 0.65). McDonough et al. (2009) concluded that multiple genes in this region may influence diabetic nephropathy susceptibility in African Americans.
Chromosome 19q
Rogus et al. (2008) conducted a genomewide scan using 5,382 informative SNPs on 100 sib pairs concordant for type 1 diabetes but discordant for diabetic nephropathy and obtained a maximum lod of 3.1 for diabetic nephropathy at rs306450 on chromosome 19q13.42.
Molecular Genetics
Awata et al. (2002) studied the common -634G-C polymorphism in the VEGF gene (192240.0001) in type 2 diabetes (125853) patients with proliferative and nonproliferative diabetic retinopathy and patients without retinopathy and found that the -634C allele was significantly associated with an increased risk of retinopathy. In addition, VEGF serum levels were significantly higher in healthy individuals with the CC genotype than in those with other genotypes.
### Associations Pending Confirmation
Association with Variation in APOC3, APOE, and LPL
In a case-control study of 374 Chinese patients with type 2 diabetes and nephropathy and 392 Chinese diabetics without nephropathy, Ng et al. (2006) examined the association of the APOC3 -455T-C SNP (107720), APOE E2 (107741.0001), E3 (107741.0015), and E4 alleles (107741.0016), and the LPL S447X SNP (609708.0014) with diabetic nephropathy. LPL 447X-containing genotypes were significantly decreased in diabetic nephropathy patients, as were APOE 3/3 genotypes. In addition, certain combinations of genotypes (APOE 3/3 and LPL 447X, APOC3 C/C and LPL 447X, and APOE 3/3 and APOC3 C/C) were protective for diabetic nephropathy compared with the most common combination of the respective polymorphisms. Ng et al. (2006) suggested that interactions among lipid genes modulate the risk of diabetic nephropathy.
Association with Variation in PON2
Kao et al. (2002) analyzed the L55M PON1 polymorphism and the C311S PON2 polymorphism (602447.0001) in 372 adolescents with type 1 diabetes who were also assessed for diabetic retinopathy and albumin excretion rate. The authors confirmed the increased susceptibility to diabetic retinopathy with the PON1 leu/leu genotype (MVCD5; 612633) and found that the PON2 ser/ser genotype was significantly more common in patients with microalbuminuria (odds ratio, 4.72; p less than 0.0001). The authors also observed strong linkage disequilibrium between PON2 ser311 and PON1 leu55 that was greater in individuals without either complication, suggesting that retinopathy and nephropathy may have distinct genetic susceptibility.
Association with Variation in SERPINF1
Iizuka et al. (2007) analyzed the SERPINF1 gene (172860) in 416 unrelated Japanese patients with type 2 diabetes, 229 with diabetic retinopathy (DR) and 187 with no retinopathy, and found that 2 SNPs in the promoter region, rs12150053 and rs12948385, were significantly associated with DR. Logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio, 2.40; p = 0.0004). The GA or AA genotype of rs12948385, which was in strong linkage disequilibrium with rs12150053, was also a significant risk factor for DR. In addition, a significant interaction between VEGF and SERPINF1 SNPs in susceptibility to DR was found. The authors concluded that SERPINF1, in cooperation with VEGF, may contribute to the development of diabetic retinopathy.
Association with Variation in CCR5 and CCL5
In 616 Japanese patients with type 2 diabetes, Nakajima et al. (2003) found a significant association between the -28G allele of the CCL5 gene (187011.0001) and nephropathy (defined by the presence of macroalbuminuria; p = 0.0268). Discriminant analysis showed that the CCL5 -28G allele and the 59029A allele in the CCR5 gene (601373.0006) were both independently and interactively associated with nephropathy: the percentage of macroalbuminuria was 2-fold higher in patients carrying -28G or 59029A, and 3-fold higher in patients carrying both, compared to patients without either variant.
Konta et al. (2008) analyzed CCL5 polymorphisms in 2,749 Japanese nondiabetic individuals and identified a 4-SNP haplotype that was significantly associated with an elevated urine albumin/creatinine ratio. The authors suggested that genetic variation of CCL5 might be a common factor for the development of albuminuria.
Association with Variation in CTGF
In 862 patients with type 1 diabetes, Wang et al. (2010) screened for SNPs in the CTGF gene (121009) and identified a -20C-G promoter SNP for which the GG genotype was significantly greater in patients with microalbuminuria than in patients without it (p less than 0.001). The relative risk of developing microalbuminuria in diabetic subjects with the polymorphism was 3 times higher than in those without the polymorphism (relative risk, 3.142; p less than 0.05). In addition, the GG genotype group developed microalbuminuria and macroalbuminuria at a more rapid rate than the GC or CC genotypes. Functional studies demonstrated that the basal activity of the G allele was significantly greater than that of wildtype, and the higher level of activity was abrogated upon suppression of SMAD1 (601595) levels. Wang et al. (2010) concluded that variants within the promoter region of the CTGF gene predispose diabetic subjects to develop albuminuria.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 | c2676835 | 28,721 | omim | https://www.omim.org/entry/603933 | 2019-09-22T16:12:32 | {"omim": ["603933"], "synonyms": ["Alternative titles", "PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO", "NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO"]} |
A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.
## Epidemiology
Acute adrenal insufficiency (AAI) exact prevalence is unknown.
## Clinical description
The disease may occur at any age. The onset is often sudden. The initial presentation may be non specific and may be limited to abdominal pain, nausea, vomiting, weight loss, tachycardia, and fever. Asymptomatic hypoglycemia, Hypoglycemic seizures or symptoms of dehydration are common manifestations seen in children. If untreated, shock and bilateral adrenal hemorrhage can rapidly lead to death.
## Etiology
Steroid withdrawal is the most common cause of AAI in patients with chronic adrenal insufficiency. A precipitating illness (severe infection, acute myocardial infarction, stroke), surgery without adrenal support, pregnancy, any acute or chronic disease, or acute trauma are other potential causes of an acute adrenal crisis. AAI may result from an acute exacerbation of chronic primary adrenal insufficiency (CPAI). Adrenal destruction may be associated with autoimmune adrenalitis (Addison disease), isolated or in the context of autoimmune polyendocrinopathy type 1, 2 or 4. It can also be caused by medications that reduce steroid metabolism for patients with tuberculosis, opportunistic mycoses and viral infections in immunocompromised patients and adrenal metastases. Adrenal destruction may occur in the absence of CPAI history and may be due to bilateral massive adrenal hemorrhage (BMAH) as seen in Waterhouse-Friderichsen syndrome. AAI may also result from corticotroph insufficiency, either isolated or more often resulting from complete anterior pituitary insufficiency. Chronic glucocorticoid therapy (exogenous steroid such oral prednisolone or inhaled steroid) is also a cause of adrenal insufficiency (secondary adrenal insufficiency). Abrupt withdrawal of treatment may result in acute adrenal insufficiency.
## Diagnostic methods
The clinical signs are nonspecific but the diagnosis of AAI is suspected if a patient presents with hypotonia or shock that responds poorly to catecholamines. Laboratory exams show signs of adrenal insufficiency (hypoglycemia, hyponatremia and elevated natriuresis, hyperkaliemia, hemoconcentration, hypochloremic metabolic acidosis and functional renal failure) confirmed by hypocortisolemia, increased ACTH (Adreno CorticoTropic Hormone), and an insufficient response to rapid ACTH stimulation testing that leads to the diagnosis of absolute and peripheral AAI. The mineralocorticoid insufficiency, when present, can be confirmed by low aldosterone levels and high plasma renin activity (PRA). The etiological diagnosis is based on various imaging exams (CT-scan, ultrasound, or MRI). In case of anterior pituitary insufficiency, ACTH is low.
## Differential diagnosis
Secondary adrenal insufficiency needs to be eliminated. Peritonitis is often a differential diagnosis as well as other causes of adrenal destruction such as bilateral adrenalectomy, Waterhouse-Friderichsen syndrome, autoimmune adrenalitis, infectious adrenalitis.
## Management and treatment
Immediate treatment in an intensive care unit is necessary. Administration of 100 mg hydrocortisone i.v. (followed by 100-200 mg over 24 hours) combined with fluid resuscitation (1L saline solution during first hour, 500ml during second hour) is the standard treatment for an adrenal crisis. In children the dosage is based on 2 mg/kg/every 6 hours and hydroelectrolytic re-equilibration based on 3l/m2/d. During this time cardiac monitoring is essential. Antibiotics, vasopressors, heparin, packed red blood cells, platelets, cryoprecipitates and fresh frozen plasma are also administered if needed. Preventive strategies include dosage increase of oral steroid hormones during times of stress in those with CPIA or intramuscular , intraveinous or sub cutaneous injection . Patients and their families should also be educated on what to do during an adrenal crisis.
## Prognosis
Prognosis varies depending on the etiologies, but is generally correlated with the rapidity of diagnosis and medical assistance. Death is rare when the patients receive appropriate medical assistance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Acute adrenal insufficiency | c0151467 | 28,722 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95409 | 2021-01-23T18:43:00 | {"umls": ["C0151467"], "icd-10": ["E27.2"], "synonyms": ["Acute adrenal failure", "Acute adrenocortical insufficiency", "Addisonian crisis", "Adrenal crisis", "Adrenocortical crisis"]} |
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital deficiency in alpha-fetoprotein | c1863081 | 28,723 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168612 | 2021-01-23T17:08:08 | {"mesh": ["C566300"], "omim": ["615969"], "umls": ["C1863081"]} |
A number sign (#) is used with this entry because of evidence that Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is caused by homozygous mutation in the MED25 gene (610197) on chromosome 19q13.
Description
Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).
Clinical Features
Basel-Vanagaite et al. (2015) reported 7 children from 4 unrelated families living in the same small village in Israel with a severe syndromic neurodevelopmental disorder. All had severely delayed psychomotor development apparent from infancy and variable eye abnormalities, including ptosis, microcornea, and congenital cataracts. Common dysmorphic facial features included epicanthal folds, hypertelorism, short philtrum, wide cupid bow, tented upper lip, everted lower lip vermilion, sparse hair, sparse eyebrows, and nevus flammeus simplex on the forehead. None of the children was able to speak or walk independently, including the oldest, who was 13 years old. Additional features present in most, but not all, patients included cleft palate, cardiac septal defects, hypospadias, hypotonia, thin corpus callosum, cerebral ventricular dilatation, and seizures.
Inheritance
The transmission pattern of BVSYS in the family reported by Basel-Vanagaite et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 7 children from 4 unrelated families with BVSYS, Basel-Vanagaite et al. (2015) identified a homozygous missense mutation in the MED25 gene (Y39C; 610197.0003). The mutation was found by whole-exome sequencing and segregated with the disorder in all 3 of the families in which segregation analysis was possible. Coimmunoprecipitation studies showed that the mutation impaired MED25 interaction with the Mediator complex in mammalian cells.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (1 patient) Face \- Short philtrum Eyes \- Hypertelorism \- Downslanting palpebral fissures \- Epicanthal folds \- Ptosis \- Cataracts \- Microcornea \- Strabismus Mouth \- Cleft palate \- Wide cupid bow \- Tented upper lip \- Everted lower lip vermilion CARDIOVASCULAR Heart \- Septal defects (in some patients) GENITOURINARY External Genitalia (Male) \- Hypospadias Kidneys \- Hydronephrosis (1 patient) SKELETAL Spine \- Kyphosis (1 patient) \- Scoliosis (1 patient) SKIN, NAILS, & HAIR Skin \- Nevus flammeus simplex on the forehead \- Transparent skin Hair \- Sparse hair \- Receding frontal hairline MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Spasticity \- Seizures (in some patients) \- Thin corpus callosum \- Dilated ventricles \- Lesions in the periventricular occipital white matter (in some patients) MISCELLANEOUS \- Onset at birth \- Dysmorphic features are variable \- Seven patients from 4 families in Israel have been reported (last curated July 2015) MOLECULAR BASIS \- Caused by mutation in the mediator complex subunit 25 gene (MED25, 610197.0003 ) ▲ 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME | c4225323 | 28,724 | omim | https://www.omim.org/entry/616449 | 2019-09-22T15:48:53 | {"omim": ["616449"], "orphanet": ["464738"], "synonyms": []} |
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
## Epidemiology
The prevalence is unknown. Fewer than 60 patients with this condition have been reported to date.
## Clinical description
Length is usually normal at birth but postnatal height falls progressively below the normal percentiles. The mean adult height is 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs are short and occipitofrontal circumference is normal. There is no intellectual deficit. Mild dysmorphic features have been noted, including a round face, narrow palpebral fissures, well-defined eyebrows, long eyelashes, a bulbous nose with anteverted nostrils, a long and prominent philtrum, and thick lips with a small mouth. Other features include well-developed muscles, a hoarse voice, generalized joint limitations in some patients, frequent ear, tracheal, and respiratory complications, and spine abnormalities. Long-term follow-up shows that facial dysmorphism becomes less obvious in adults and that carpal tunnel syndrome is frequent in older patients. The entity known as Moore-Federman syndrome (see this term) characterized by short stature (with disproportionately short legs), joint stiffness, ocular abnormalities (hypermetropia, glaucoma) and thickened skin on the forearms, is believed to represent a variable clinical expression of acromicric dysplasia.
## Etiology
The disease is caused by heterozygous mutations in the FBN1 gene. Mutations are all located in exon 41-42, encoding TGFβ binding protein-like domain 5.
## Diagnostic methods
Diagnosis of acromicric dysplasia can be suspected on association of severe postnatal short stature, short hands and feet, normal intelligence and mild facial dysmorphism. X-rays show delayed carpal bone age, cone shaped epiphyses, short metacarpals and phalanges with an internal notch of the second metacarpal, an external notch of the fifth metacarpal, as well as an internal notch of the femoral heads. Notches of the hands disappear in adulthood.
## Differential diagnosis
Overlapping syndromes include geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome (see these terms). Geleophysic dysplasia can be distinguished from acromicric dysplasia by the presence of cardiac abnormalities (e.g. cardiac valvular thickening), Weill-Marchesani syndrome by the presence of microspherophakia, and Myhre syndrome by the presence of prognathism, deafness, developmental delay, and a thick calvarium.
## Genetic counseling
Transmission is autosomal dominant. Affected individuals have a 50% risk of transmitting the disease to their offspring.
## Management and treatment
Orthopedic management may be needed for hip dysplasia during childhood and for carpal tunnel syndrome in older patients. Physical therapy is required to prevent progressive joint limitation. In a few cases, children have been treated with growth hormone therapy. Regular multidisciplinary follow-up is required, especially for respiratory abnormalities.
## Prognosis
The prognosis for affected individuals is usually good with a normal life expectancy. However, complications may occur, such as respiratory disorders, which may worsen the prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Acromicric dysplasia | c0265287 | 28,725 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969 | 2021-01-23T18:43:05 | {"gard": ["7"], "mesh": ["C535662"], "omim": ["102370"], "umls": ["C0265287"], "icd-10": ["Q77.8"]} |
Not to be confused with aspermia, which refers to the absence of semen in a male.
Azoospermia
Semen analysis revealing no sperm cells and multiple white blood cells
SpecialtyUrology
Azoospermia is the medical condition of a man whose semen contains no sperm.[1] It is associated with infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population[2] and may be seen in up to 20% of male infertility situations in Canada.[3]
## Contents
* 1 Classification
* 1.1 Pretesticular
* 1.2 Testicular
* 1.3 Post-testicular
* 1.4 Unknown
* 2 Genetics
* 2.1 BRD7
* 2.2 Gene polymorphisms
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Classification[edit]
Azoospermia can be classified into three major types as listed.[3] Many conditions listed may also cause various degrees of oligospermia rather than azoospermia. Pretesticular and testicular azoospermia are known as non-obstructive azoospermia, whereas post-testicular azoospermia is considered obstructive.
### Pretesticular[edit]
Pretesticular azoospermia is characterized by inadequate stimulation of otherwise normal testicles and genital tract. Typically, follicle-stimulating hormone (FSH) levels are low (hypogonadotropic) commensurate with inadequate stimulation of the testes to produce sperm. Examples include hypopituitarism (for various causes), hyperprolactinemia, and exogenous FSH suppression by testosterone. Chemotherapy may suppress spermatogenesis.[4] Pretesticular azoospermia is seen in about 2% of azoospermia.[3] Pretesticular azoospermia is a kind of non-obstructive azoospermia.
### Testicular[edit]
In this situation the testes are abnormal, atrophic, or absent, and sperm production severely disturbed to absent. FSH levels tend to be elevated (hypergonadotropic) as the feedback loop is interrupted (lack of feedback inhibition on FSH). The condition is seen in 49–93% of men with azoospermia.[3] Testicular failure includes absence of failure production as well as low production and maturation arrest during the process of spermatogenesis.
Causes for testicular failure include congenital issues such as in certain genetic conditions (e.g. Klinefelter syndrome), some cases of cryptorchidism or Sertoli cell-only syndrome as well as acquired conditions by infection (orchitis), surgery (trauma, cancer), radiation,[4] or other causes. Mast cells releasing inflammatory mediators appear to directly suppress sperm motility in a potentially reversible manner, and may be a common pathophysiological mechanism for many causes leading to inflammation.[5] Testicular azoospermia is a kind of non-obstructive azoospermia.
Generally, men with unexplained hypergonadotropic azoospermia need to undergo a chromosomal evaluation.
### Post-testicular[edit]
In post-testicular azoospermia sperm are produced but not ejaculated, a condition that affects 7–51% of azoospermic men.[3] The main cause is a physical obstruction (obstructive azoospermia) of the post-testicular genital tracts. The most common reason is a vasectomy done to induce contraceptive sterility.[6] Other obstructions can be congenital (example agenesis of the vas deferens as seen in certain cases of cystic fibrosis) or acquired, such as ejaculatory duct obstruction for instance by infection.
Ejaculatory disorders include retrograde ejaculation and anejaculation; in these conditions sperm are produced but not expelled.
### Unknown[edit]
Idiopathic azoospermia is where there is no known cause of the condition. It may be a result of multiple risk factors, such as age and weight. For example, a review in 2013 came to the result that oligospermia and azoospermia are significantly associated with being overweight (odds ratio 1.1), obese (odds ratio 1.3) and morbidly obese (odds ratio 2.0), but the cause of this is unknown.[7] The review found no significant relation between oligospermia and being underweight.[7]
## Genetics[edit]
Genetic factors can cause pretesticular, testicular, and post-testicular azoospermia (or oligospermia) and include the following situations:[8] The frequency of chromosomal abnormalities is inversely proportional to the semen count, thus males with azoospermia are at risk to have a 10–15% (other sources citing 15–20% incidence[9]) abnormalities on karyotyping versus about <1 % in the fertile male population.[2]
Pretesticular azoospermia may be caused by congential hypopituitarism, Kallmann syndrome, Prader-Willi syndrome and other genetic conditions that lead to GnRH or gonadotropin deficiency. Testicular azoospermia is seen in Klinefelter syndrome(XXY) and the XX male syndrome. In addition, 13% of men with azoospermia have a defective spermatogenesis that is linked to defects of the Y chromosome.[8] Such defects tend to be de novo micro-deletions and affect usually the long arm of the chromosome. A section of the long arm of the Y chromosome has been termed Azoospermia Factor (AZF) at Yq11 and subdivided into AZFa, AZFb, AZFc and possibly more subsections. Defects in this area can lead to oligospermia or azoospermia, however, a tight genotype-phenotype correlation has not been achieved.[8] Spermatogenesis is defective with gene defects for the androgen receptor.[citation needed]
Post-testicular azoospermia can be seen with certain point mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene commonly associated with congenital vas deferens abnormalities.[citation needed]
Genetic counselling is indicated for men with genetic causes of azoospermia. In terms of reproduction, it needs to be considered if the genetic defect could be transmitted to the offspring.[citation needed]
### BRD7[edit]
BRD7, a transcription regulatory protein, is normally highly expressed in the testis. Absent or reduced expression of BRD7 protein was observed in the testes of azoospermia patients exhibiting spermatogenesis arrest.[10] Homozygous knockout mice [BRD7(-/-)] are infertile and have higher levels of apoptosis and DNA damage in their germline cells.[10]
### Gene polymorphisms[edit]
The human breast cancer susceptibility gene 2 (BRCA2) is employed in DNA repair. A common single nucleotide polymorphism in BRCA2 is associated with idiopathic male infertility with azoospermia.[11]
Four genes involved in DNA double-strand break repair and chromosome synapsis (TEX11, TEX15, MLH1 and MLH3) have key roles in genomic integrity, meiotic recombination and gametogenesis. Polymorphisms in these genes were tested for associations with male infertility. Single nucleotide polymorphisms in two of these genes (TEX11 and MLH3) were found to be associated with male infertility involving azoospermy or oligospermia.[12]
## Diagnosis[edit]
Algorithms for the workup of the infertile male. Algorithm to be considered on initial assessment (top). Algorithm for the management of the patient presenting with azoospermia (bottom).
Azoospermia is usually detected in the course of an infertility investigation. It is established on the basis of two semen analysis evaluations done at separate occasions (when the seminal specimen after centrifugation shows no sperm under the microscope) and requires a further work-up.[13]
The investigation includes a history, a physical examination including a thorough evaluation of the scrotum and testes, laboratory tests, and possibly imaging. History includes the general health, sexual health, past fertility, libido, and sexual activity. Past exposure to a number of agents needs to be queried including medical agents like hormone/steroid therapy, antibiotics, 5-ASA inhibitors (sulfasalazine), alpha-blockers, 5 alpha-reductase inhibitors, chemotherapeutic agents, pesticides, recreational drugs (marijuana, excessive alcohol), and heat exposure of the testes. A history of surgical procedures of the genital system needs to be elicited. The family history needs to be assessed to look for genetic abnormalities.[3]
Congenital absence of the vas deferens may be detectable on physical examination and can be confirmed by a transrectal ultrasound (TRUS). If confirmed genetic testing for cystic fibrosis is in order. Transrectal ultrasound can also assess azoospermia caused by obstruction, or anomalies related to obstruction of the ejaculatory duct, such as abnormalities within the duct itself, a median cyst of the prostate (indicating a need for cyst aspiration), or an impairment of the seminal vesicles to become enlarged or emptied.[14] Retrograde ejaculation is diagnosed by examining a post-ejaculatory urine for presence of sperm after making it alkaline and centrifuging it.[9]
Low levels of LH and FSH with low or normal testosterone levels are indicative of pretesticular problems, while high levels of gonadotropins indicate testicular problems. However, often this distinction is not clear and the differentiation between obstructive versus non-obstructive azoospermia may require a testicular biopsy.[3] On the other hand, "In azoospermic men with a normal ejaculate volume, FSH serum level greater than two times the upper limit of the normal range is reliably diagnostic of dysfunctional spermatogenesis and, when found, a diagnostic testicular biopsy is usually unnecessary, although no consensus exists in this matter." [13][15][16] But also, extremely high levels of FSH (>45 ID/mL) have been correlated with successful microdissection testicular sperm extraction.[17]
Serum inhibin-B weakly indicates presence of sperm cells in the testes, raising chances for successfully achieving pregnancy through testicular sperm extraction (TESE), although the association is not very substantial, having a sensitivity of 0.65 (95% confidence interval [CI]: 0.56–0.74) and a specificity of 0.83 (CI: 0.64–0.93) for prediction the presence of sperm in the testes in non-obstructive azoospermia.[18]
Seminal plasma proteins TEX101 and ECM1 were recently proposed for the differential diagnosis of azoospermia forms and subtypes, and for prediction of TESE outcome.[19][20] Mount Sinai Hospital, Canada started clinical trial to test this hypothesis in 2016.[21]
It is recommended that men primary hypopituitarism may be linked to a genetic cause, a genetic evaluation is indicated in men with azoospermia due to primary hypopituitarism.[2] Azoospermic men with testicular failure are advised to undergo karyotype and Y-micro-deletion testing.[22][8][13]
## Treatment[edit]
Pre- and post-testicular azoospermia are frequently correctible, while testicular azoospermia is usually permanent.[2] In the former the cause of the azoospermia needs to be considered and it opens up possibilities to manage this situation directly. Thus men with azoospermia due to hyperprolactinemia may resume sperm production after treatment of hyperprolactinemia or men whose sperm production is suppressed by exogenous androgens are expected to produce sperm after cessation of androgen intake. In situations where the testes are normal but unstimulated, gonadotropin therapy can be expected to induce sperm production.
A major advancement in recent years has been the introduction of IVF with ICSI which allows successful fertilization even with immature sperm or sperm obtained directly from testicular tissue. IVF-ICSI allows for pregnancy in couples where the man has irreversible testicular azoospermia as long as it is possible to recover sperm material from the testes. Thus men with non-mosaic Klinefelter's syndrome have fathered children using IVF-ICSI.[23] Pregnancies have been achieved in situations where azoospermia was associated with cryptorchism and sperm where obtained by testicular sperm extraction (TESE).[24]
In men with post-testicular azoospermia a number of approaches are available. For obstructive azoospermia IVF-ICSI or surgery can be used and individual factors need to be considered for the choice of treatment.[6] Medication may be helpful for retrograde ejaculation.
## See also[edit]
-spermia,
Further information: Testicular infertility factors
* view
* talk
* edit
Aspermia —lack of semen; anejaculation
Asthenozoospermia —sperm motility below lower reference limit
Azoospermia —absence of sperm in the ejaculate
Hyperspermia —semen volume above higher reference limit
Hypospermia —semen volume below lower reference limit
Oligozoospermia —total sperm count below lower reference limit
Necrozoospermia—absence of living sperm in the ejaculate
Teratozoospermia —percent normal forms below lower reference limit
* Infertility
* Retrograde ejaculation
* Vasectomy
## References[edit]
1. ^ Berookhim, BM; Schlegel, PN (February 2014). "Azoospermia due to spermatogenic failure". The Urologic Clinics of North America. 41 (1): 97–113. doi:10.1016/j.ucl.2013.08.004. PMID 24286770.
2. ^ a b c d Male Infertility Best Practice Policy Committee of the American Urological Association; Practice Committee of the American Society for Reproductive Medicine (2001). Infertility: Report on Evaluation of the Azoospermic Male (PDF). American Urological Association; American Society for Reproductive Medicine. ISBN 978-0-9649702-8-1.
3. ^ a b c d e f g Jarvi, K; Lo, K; Fischer, A; Grantmyre, J; Zini, A; Chow, V; Mak, V (2010). "CUA Guideline: The workup of azoospermic males". Canadian Urological Association Journal. 4 (3): 163–7. doi:10.5489/cuaj.10050. PMC 2874589. PMID 20514278.
4. ^ a b Dohle, Gert R (2010). "Male infertility in cancer patients: Review of the literature". International Journal of Urology. 17 (4): 327–331. doi:10.1111/j.1442-2042.2010.02484.x. PMID 20202000.
5. ^ Menzies, F. M.; Shepherd, M. C.; Nibbs, R. J.; Nelson, S. M. (2010). "The role of mast cells and their mediators in reproduction, pregnancy and labour". Human Reproduction Update. 17 (3): 383–396. doi:10.1093/humupd/dmq053. PMID 20959350.
6. ^ a b Practice Committee of ASRM, August 2008. "The management of infertility due to obstructive azzospermia" (PDF). Retrieved June 14, 2010.
7. ^ a b [1] Sermondade, N.; Faure, C.; Fezeu, L.; et al. (2012). "BMI in relation to sperm count: An updated systematic review and collaborative meta-analysis". Human Reproduction Update. 19 (3): 221–231. doi:10.1093/humupd/dms050. PMC 3621293. PMID 23242914.
8. ^ a b c d Poongothai, J; Gopenath, TS; Manonayaki, S (2009). "Genetics of human male infertility". Singapore Medical Journal. 50 (4): 336–47. PMID 19421675.
9. ^ a b Padubidri; Daftary (2011). Shaw's Textbook of Gynaecology, 15e. p. 205. ISBN 978-81-312-2548-6
10. ^ a b Wang H, Zhao R, Guo C, Jiang S, Yang J, Xu Y, Liu Y, Fan L, Xiong W, Ma J, Peng S, Zeng Z, Zhou Y, Li X, Li Z, Li X, Schmitt DC, Tan M, Li G, Zhou M (2016). "Knockout of BRD7 results in impaired spermatogenesis and male infertility". Sci Rep. 6: 21776. doi:10.1038/srep21776. PMC 4754950. PMID 26878912.
11. ^ Zhoucun A, Zhang S, Yang Y, Ma Y, Zhang W, Lin L (2006). "The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia". Eur. J. Obstet. Gynecol. Reprod. Biol. 124 (1): 61–4. doi:10.1016/j.ejogrb.2005.09.001. PMID 16257105.
12. ^ Zhang X, Ding M, Ding X, Li T, Chen H (2015). "Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: association with male infertility". Syst Biol Reprod Med. 61 (4): 187–93. doi:10.3109/19396368.2015.1027014. PMID 26086992.
13. ^ a b c Esteves SC, Miyaoka R, Agarwal A. An update on the clinical assessment of the infertile male. Clinics (Sao Paulo). [corrected]. 2011;66(4):691–700.
14. ^ Lotti, F.; Maggi, M. (2014). "Ultrasound of the male genital tract in relation to male reproductive health" (PDF). Human Reproduction Update. 21 (1): 56–83. doi:10.1093/humupd/dmu042. ISSN 1355-4786. PMID 25038770.
15. ^ Fertil Steril. 2008;90(5 Suppl):S74-7.
16. ^ Coburn, M., Wheeler, T., and Lipshultz, L.I. Testicular biopsy. Its use and limitations. Urol Clin North Am. 1987; 14: 551–561.
17. ^ Ramasamy R, Lin K, Gosden LV, Rosenwaks Z, Palermo GD, Schlegel PN. High serum FSH levels in men with nonobstructive azoospermia does not affect success of microdissection testicular sperm extraction. Fertil Steril. 2009;92(2):590-3.
18. ^ Toulis, K. A.; Iliadou, P. K.; Venetis, C. A.; Tsametis, C.; Tarlatzis, B. C.; Papadimas, I.; Goulis, D. G. (2010). "Inhibin B and anti-Mullerian hormone as markers of persistent spermatogenesis in men with non-obstructive azoospermia: a meta-analysis of diagnostic accuracy studies". Human Reproduction Update. 16 (6): 713–724. doi:10.1093/humupd/dmq024. PMID 20601364.
19. ^ Drabovich, A. P.; Dimitromanolakis, A.; Saraon, P.; Soosaipillai, A.; Batruch, I.; Mullen, B.; Jarvi, K.; Diamandis, E.P. (2013). "Differential Diagnosis of Azoospermia with Proteomic Biomarkers ECM1 and TEX101 Quantified in Seminal Plasma". Science Translational Medicine. 5 (212): 212ra160. doi:10.1126/scitranslmed.3006260. PMID 24259048.
20. ^ Korbakis, D.; Schiza, C.; Brinc, D.; Soosaipillai, A.; Karakosta, T.D.; Légaré, C.; Sullivan, R.; Mullen, B.; Jarvi, K.; Diamandis, E.P.; Drabovich, A.P. (2017). "Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertility". BMC Medicine. 15 (1): 60. doi:10.1186/s12916-017-0817-5. PMC 5363040. PMID 28330469.
21. ^ https://clinicaltrials.gov/ct2/show/NCT02851966
22. ^ Schlegel, PN (2004). "Causes of azoospermia and their management". Reproduction, Fertility, and Development. 16 (5): 561–72. doi:10.1071/RD03087. PMID 15367371.
23. ^ Fullerton, G.; Hamilton, M.; Maheshwari, A. (2010). "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?". Human Reproduction. 25 (3): 588–597. doi:10.1093/humrep/dep431. PMID 20085911.
24. ^ Haimov-Kochman, R.; Prus, D.; Farchat, M.; Bdolah, Y.; Hurwitz, A. (2010). "Reproductive outcome of men with azoospermia due to cryptorchidism using assisted techniques". International Journal of Andrology. 33 (1): e139–e143. doi:10.1111/j.1365-2605.2009.00977.x. PMID 19622071.
## External links[edit]
Classification
D
* ICD-10: N46
* ICD-9-CM: 606.0
* MeSH: D053713
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
* Seminal vesiculitis
External
Penis
* Balanoposthitis / Balanitis
* Balanitis plasmacellularis
* Pseudoepitheliomatous keratotic and micaceous balanitis
* Phimosis
* Paraphimosis
* Priapism
* Sexual dysfunction
* Erectile dysfunction
* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Azoospermia | c0004509 | 28,726 | wikipedia | https://en.wikipedia.org/wiki/Azoospermia | 2021-01-18T18:59:00 | {"mesh": ["D053713"], "umls": ["C0004509"], "orphanet": ["217034"], "wikidata": ["Q794026"]} |
Mitochondrial trifunctional protein deficiency
Other namesTFP deficiency[1]
Mitochondrial trifunctional protein deficiency has an autosomal recessive pattern of inheritance
SymptomsCardiomyopathy, skeletal myopathy [2]
TypesMutations in the HADHA and HADHB gene[2]
Diagnostic methodCBC, Urine test[3]
TreatmentLow fat diet, Limited exercise[3]
Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder[4] that prevents the body from converting certain fats to energy, particularly during periods without food.[5][6] People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.[6]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
The presentation of mitochondrial trifunctional protein deficiency may begin during infancy, features that occur are: low blood sugar, weak muscle tone, and liver problems. Infants with this disorder are at risk for heart problems, breathing difficulties, and pigmentary retinopathy. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities called peripheral neuropathy. Some who have MTP deficiency show a progressive course associated with myopathy, and recurrent rhabdomyolysis.[2][6][7]
## Genetics[edit]
HADHB function in beta-oxidation
The genetics of mitochondrial trifunctional protein deficiency is based on mutations in the HADHA [8] and HADHB [9] genes which cause this disorder. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells: mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to metabolize a group of fats called long-chain fatty acids. These fatty acids are stored in the body's fat tissues and are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.[10][11][12]
Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all functions of this enzyme complex.[13] Without enough of this enzyme complex, long-chain fatty acids cannot be metabolized. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder. Long-chain fatty acids may also build up and damage the liver, heart, and muscles. This abnormal buildup causes other symptoms of mitochondrial trifunctional protein deficiency.[medical citation needed]
The mechanism of this condition indicates that the mitochondrial trifunction protein catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, trifunctional protein deficiency usually results in sudden unexplained infant death, cardiomyopathy, or skeletal myopathy.[14][11][12]
## Diagnosis[edit]
Diagnosis of mitochondrial trifunctional protein deficiency is often confirmed using tandem mass spectrometry.[4] Genetic counseling is available for this condition. Additionally the following exams are available:
* CBC[3]
* Urine test[3]
## Treatment[edit]
Glucose.
Management for mitochondrial trifunctional protein deficiency entails the following:[7]
* Avoiding factors that might precipitate condition
* Glucose
* Low fat/high carbohydrate nutrition
## See also[edit]
* Long-chain acyl-CoA dehydrogenase
## References[edit]
1. ^ "Mitochondrial trifunctional protein deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 31 July 2019.
2. ^ a b c "Mitochondrial trifunctional protein deficiency | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 12 November 2016.
3. ^ a b c d RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Mitochondrial trifunctional protein deficiency". www.orpha.net. Retrieved 2016-11-12.
4. ^ a b Solish JO, Singh RH (2002). "Management of fatty acid oxidation disorders: a survey of current treatment strategies". J Am Diet Assoc. 102 (12): 1800–1803. doi:10.1016/S0002-8223(02)90386-X. PMID 12487544.subscription needed
5. ^ "OMIM Entry - # 609015 - MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD". omim.org. Retrieved 2016-11-05.
6. ^ a b c Reference, Genetics Home. "mitochondrial trifunctional protein deficiency". Genetics Home Reference. Retrieved 2016-10-28.
7. ^ a b Swaiman, Kenneth F.; Ashwal, Stephen; Ferriero, Donna M.; Schor, Nina F. (2014). Swaiman's Pediatric Neurology: Principles and Practice. Elsevier Health Sciences. pp. 461, 1638. ISBN 978-0323089111. Retrieved 12 November 2016.
8. ^ Reference, Genetics Home. "HADHA gene". Genetics Home Reference. Retrieved 2016-11-05.
9. ^ Reference, Genetics Home. "HADHB gene". Genetics Home Reference. Retrieved 2016-11-05.
10. ^ "Long-Chain Acyl CoA Dehydrogenase Deficiency: Background, Pathophysiology, Epidemiology". eMedicine. 24 March 2016. Retrieved 12 November 2016.
11. ^ a b "HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 12 November 2016.
12. ^ a b "Home - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 12 November 2016.
13. ^ "OMIM Entry - * 600890 - HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA". omim.org. Retrieved 5 November 2016.
14. ^ Rector, R. Scott; Payne, R. Mark; Ibdah, Jamal A. (1 January 2008). "Mitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic Approaches". Adv Drug Deliv Rev. 60 (13–14): 1488–1496. doi:10.1016/j.addr.2008.04.014. ISSN 0169-409X. PMC 2848452. PMID 18652860.
## Further reading[edit]
* Nyhan, William L.; Hoffman, Georg F.; Barshop, Bruce A.; Al-Aqeel, Aida I. (2012). Atlas of Inherited Metabolic Diseases 3E. CRC Press. ISBN 9781444149487.
* Thöny, Beat; Duran, Marinus; Gibson, K. Michael; Dionisi-Vici, Carlo (2013). Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer. ISBN 9783642403378.
## External links[edit]
* Media related to Mitochondrial trifunctional protein deficiency at Wikimedia Commons
Classification
D
* OMIM: 609015
* MeSH: D024741
* DiseasesDB: 34111
External resources
* eMedicine: ped/1284
* Orphanet: 746
Scholia has a topic profile for Mitochondrial trifunctional protein deficiency.
* v
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Inborn error of lipid metabolism: fatty-acid metabolism disorders
Synthesis
* Biotinidase deficiency (BTD)
Degradation
Acyl
transport
* Carnitine
* CPT1
* CPT2
* CDSP
* CACTD
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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
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mitochondrial trifunctional protein deficiency | c1969443 | 28,727 | wikipedia | https://en.wikipedia.org/wiki/Mitochondrial_trifunctional_protein_deficiency | 2021-01-18T18:59:03 | {"gard": ["3684"], "mesh": ["C566945"], "umls": ["C1969443"], "orphanet": ["746"], "wikidata": ["Q6881883"]} |
Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Arthrochalasia Ehlers-Danlos syndrome | c0268345 | 28,728 | gard | https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome | 2021-01-18T18:02:02 | {"omim": ["130060"], "umls": ["C0268345"], "orphanet": ["1899"], "synonyms": ["Arthrochalasis multiplex congenita", "Ehlers-Danlos syndrome type 7A (formerly)", "EDS7A (formerly)", "Arthrochalasia EDS", "aEDS", "Ehlers-Danlos syndrome, arthrochalasia type"]} |
Hemispatial neglect
Other namesHemiagnosia, hemineglect, unilateral neglect, spatial neglect, contralateral neglect, unilateral visual inattention,[1] hemi-inattention,[1] neglect syndrome, one-side neglect,[2] or contralateral hemispatialagnosia
Hemispatial neglect is most frequently associated with a lesion of the right parietal lobe (in yellow, at top).
SpecialtyPsychiatry, Neurology
Hemispatial neglect is a neuropsychological condition in which, after damage to one hemisphere of the brain is sustained, a deficit in attention to and awareness of one side of the field of vision is observed. It is defined by the inability of a person to process and perceive stimuli on one side of the body or environment, where that inability is not due to a lack of sensation.[1] Hemispatial neglect is very commonly contralateral to the damaged hemisphere, but instances of ipsilesional neglect (on the same side as the lesion) have been reported.[3]
## Contents
* 1 Presentation
* 1.1 Effects
* 2 Causes
* 3 Theories of mechanism
* 3.1 Spatial attention
* 3.2 Spatial representation
* 4 Diagnosis
* 4.1 Varieties
* 4.1.1 Type
* 4.1.2 Range
* 4.1.3 Axis
* 4.1.4 Orientation
* 5 Treatment
* 6 See also
* 7 References
* 8 Further reading
## Presentation[edit]
Hemispatial neglect results most commonly from strokes and brain unilateral injury to the right cerebral hemisphere, with rates in the critical stage of up to 80% causing visual neglect of the left-hand side of space. Neglect is often produced by massive strokes in the middle cerebral artery region and is variegated, so that most sufferers do not exhibit all of the syndrome's traits.[4] Right-sided spatial neglect is rare because there is redundant processing of the right space by both the left and right cerebral hemispheres, whereas in most left-dominant brains the left space is only processed by the right cerebral hemisphere. Although it most strikingly affects visual perception ('visual neglect'), neglect in other forms of perception can also be found, either alone or in combination with visual neglect.[5]
For example, a stroke affecting the right parietal lobe of the brain can lead to neglect for the left side of the visual field, causing a patient with neglect to behave as if the left side of sensory space is nonexistent (although they can still turn left). In an extreme case, a patient with neglect might fail to eat the food on the left half of their plate, even though they complain of being hungry. If someone with neglect is asked to draw a clock, their drawing might show only the numbers 12 to 6, or all 12 numbers might be on one half of the clock face with the other half distorted or blank. Neglect patients may also ignore the contralesional side of their body; for instance, they might only shave, or apply make-up to, the non-neglected side. These patients may frequently collide with objects or structures such as door frames on the side being neglected.[1]
Neglect may also present as a delusional form, where the patient denies ownership of a limb or an entire side of the body. Since this delusion often occurs alone, without the accompaniment of other delusions, it is often labeled as a monothematic delusion.[citation needed]
Neglect not only affects present sensation but memory and recall perception as well. A patient suffering from neglect may also, when asked to recall a memory of a certain object and then draw said object, draw only half of the object. It is unclear, however, if this is due to a perceptive deficit of the memory (to the patient having lost pieces of spatial information of the memory) or whether the information within the memory is whole and intact but simply being ignored, the same way portions of a physical object in the patient's presence would be ignored.[citation needed]
Some forms of neglect may also be very mild—for example, in a condition called extinction where competition from the ipsilesional stimulus impedes perception of the contralesional stimulus. These patients, when asked to fixate on the examiner's nose, can detect fingers being wiggled on the affected side. If the examiner were to wiggle his or her fingers on both the affected and unaffected sides of the patient, the patient will report seeing movement only on the ipsilesional side.[6]
### Effects[edit]
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Though it is frequently underappreciated, unilateral neglect can have dramatic consequences. It has more negative effect on functional ability, as measured by the Barthel ADL index, than age, sex, power, side of stroke, balance, proprioception, cognition, and premorbid ADL status. Its presence within the first 10 days of a stroke is a stronger predictor of poor functional recovery after one year than several other variables, including hemiparesis, hemianopsia, age, visual memory, verbal memory, and visuoconstructional ability. Neglect is probably among the reasons patients with right hemisphere damage are twice as likely to fall as those with left-side brain damage. Patients with neglect take longer to rehabilitate and make less daily progress than other patients with similar functional status. Patients with neglect are also less likely to live independently than patients who have both severe aphasia and right hemiparesis.
## Causes[edit]
Brain areas in the parietal and frontal lobes are associated with the deployment of attention (internally, or through eye movements, head turns or limb reaches) into contralateral space. Neglect is most closely related to damage to the temporo-parietal junction and posterior parietal cortex.[7] The lack of attention to the left side of space can manifest in the visual, auditory, proprioceptive, and olfactory domains. Although hemispatial neglect often manifests as a sensory deficit (and is frequently co-morbid with sensory deficit), it is essentially a failure to pay sufficient attention to sensory input.[citation needed]
Although hemispatial neglect has been identified following left hemisphere damage (resulting in the neglect of the right side of space), it is most common after damage to the right hemisphere.[8] This disparity is thought to reflect the fact that the right hemisphere of the brain is specialized for spatial perception and memory, whereas the left hemisphere is specialized for language - there is redundant processing of the right visual fields by both hemispheres. Hence the right hemisphere is able to compensate for the loss of left hemisphere function, but not vice versa.[9] Neglect is not to be confused with hemianopsia. Hemianopsia arises from damage to the primary visual pathways cutting off the input to the cerebral hemispheres from the retinas. Neglect is damage to the processing areas. The cerebral hemispheres receive the input, but there is an error in the processing that is not well understood.[citation needed]
## Theories of mechanism[edit]
Researchers have argued whether neglect is a disorder of spatial attention or spatial representation.[10]
### Spatial attention[edit]
Spatial attention is the process where objects in one location are chosen for processing over objects in another location.[11] This would imply that neglect is more intentional. The patient has an affinity to direct attention to the unaffected side.[12] Neglect is caused by a decrease in stimuli in the contralesional side because of a lack of ipsilesional stimulation of the visual cortex and an increased inhibition of the contralesional side.[13]
In this theory, neglect is seen as disorder of attention and orientation caused by disruption of the visual cortex. Patients with this disorder will direct attention and movements to the ipsilesional side and neglect stimuli in the contralesional side despite having preserved visual fields. The result of all of this is an increased sensitivity of visual performance in the unaffected side.[13] The patient shows an affinity to the ipsilesional side being unable to disengage attention from that side.[14]
### Spatial representation[edit]
Spatial representation is the way space is represented in the brain.[6] In this theory, it is believed that the underlying cause of neglect is the inability to form contralateral representations of space.[11] In this theory, neglect patients demonstrate a failure to describe the contralesional side of a familiar scene, from a given point, from memory.[citation needed]
To support this theory, evidence from Bisiach and Luzzatti's study of Piazza del Duomo can be considered. For the study, patients with hemispatial neglect, that were also familiar with the layout of the Piazza del Duomo square, were observed. The patients were asked to imagine themselves at various vantage points in the square, without physically being in the square. They were then asked to describe different landmarks around the square, such as stores. At each separate vantage point, patients consistently only described landmarks on the right side, ignoring the left side of the representation. However, the results of their multiple descriptions at the different vantage points showed that they knew information around the entire square, but could only identify the right side of the represented field at any given vantage point. When asked to switch vantage points so that the scene that was on the contralesional side is now on the ipsilesional side the patient was able to describe with details the scene they had earlier neglected.[14]
The same patterns can be found with comparing actual visual stimuli to imaging in the brain (Rossetti et al., 2010).[15] A neglect patient who was very familiar with the map of France was asked to name French towns on a map of the country, both by a mental image of the map and by a physical image of the map. The image was then rotated 180 degrees, both mentally and physically. With the mental image, the neglect stayed consistent with the image; that is, when the map was in its original orientation, the patient named towns mostly on the East side of France, and when they mentally rotated the map they named towns mostly on the West side of France because the West coast was now on the right side of the represented field. However, with the physical copy of the map, the patient's focus was on the East side of France with either orientation. This leads researchers to believe that neglect for images in memory may be disassociated from the neglect of stimuli in extrapersonal space.[11] In this case patients have no loss of memory making their neglect a disorder of spatial representation which is the ability to reconstruct spatial frames in which the spatial relationship of objects, that may be perceived, imagined or remembered, with respect to the subject and each other are organized to be correctly acted on.[14]
This theory can also be supported by neglect in dreams (Figliozzi et al., 2007).[16] The study was run on a neglect patient by tracking his eye movements while he slept, during the REM cycle. Results showed that the majority of the eye movements were aimed to his right side, indicating that the images represented in his dreams were also affected by hemispatial neglect.[citation needed]
Another example would be a left neglect patient failing to describe left turns while describing a familiar route. This shows that the failure to describe things in the contralesional side can also affect verbal items. These findings show that space representation is more topological than symbolic.[14] Patients show a contralesional loss of space representation with a deviation of spatial reference to the ipsilesional side.[6] In these cases we see a left-right dissimilarity of representation rather than a decline of representational competence.[12]
## Diagnosis[edit]
In order to assess not only the type but also the severity of neglect, doctors employ a variety of tests, most of which are carried out at the patient's bedside. Perhaps one of the most-used and quickest is the line bisection. In this test, a line a few inches long is drawn on a piece of paper and the patient is then asked to dissect the line at the midpoint. Patients exhibiting, for example, left-sided neglect will exhibit a rightward deviation of the line's true midpoint.[6]
Another widely used test is the line cancellation test. Here, a patient is presented with a piece of paper that has various lines scattered across it and is asked to mark each of the lines. Patients who exhibit left-sided neglect will completely ignore all lines on the left side of the paper.[6]
Visual neglect can also be assessed by having the patient draw a copy of a picture with which they are presented. If the patient is asked to draw a complex picture they may neglect the entire contralesional side of the picture. If asked to draw an individual object, the patient will not draw the contralesional side of that object.[12]
A patient may also be asked to read a page out of a book. The patient will be unable to orient their eyes to the left margin and will begin reading the page from the center. Presenting a single word to a patient will result in the patient either reading only the ipsilesional part of the word or replacing the part they cannot see with a logical substitute. For example, if they are presented with the word "peanut", they may read "nut" or say "walnut".[12]
### Varieties[edit]
Neglect is a heterogenous disorder that manifests itself radically differently in different patients. No single mechanism can account for these different manifestations.[11] A vast array of impaired mechanisms are found in neglect. These mechanisms alone would not cause neglect.[12] The complexity of attention alone—just one of several mechanisms that may interact—has generated multiple competing hypothetical explanations of neglect. So it is not surprising that it has proven difficult to assign particular presentations of neglect to specific neuroanatomical loci. Despite such limitations, we may loosely describe unilateral neglect with four overlapping variables: type, range, axis, and orientation.[citation needed]
#### Type[edit]
Types of hemispatial neglect are broadly divided into disorders of input and disorders of output. The neglect of input, or "inattention", includes ignoring contralesional sights, sounds, smells, or tactile stimuli. Surprisingly, this inattention can even apply to imagined stimuli. In what's termed "representational neglect", patients may ignore the left side of memories, dreams, and hallucinations.
Output neglect includes motor and pre-motor deficits. A patient with motor neglect does not use a contralesional limb despite the neuromuscular ability to do so. One with pre-motor neglect, or directional hypokinesia, can move unaffected limbs ably in ipsilateral space but have difficulty directing them into contralesional space. Thus a patient with pre-motor neglect may struggle to grasp an object on the left side even when using the unaffected right arm.[citation needed]
#### Range[edit]
Hemispatial neglect can have a wide range in terms of what the patient neglects. The first range of neglect, commonly referred to as "egocentric" neglect, is found in patients who neglect their own body or personal space.[17] These patients tend to neglect the opposite side of their lesion, based on the midline of the body, head, or retina.[18] For example, in a gap detection test, subjects with egocentric hemispatial neglect on the right side often make errors on the far right side of the page, as they are neglecting the space in their right visual field.[19]
The next range of neglect is "allocentric" neglect, where individuals neglect either their peri-personal or extrapersonal space. Peri-personal space refers to the space within the patient's normal reach, whereas extrapersonal space refers to the objects/environment beyond the body's current contact or reaching ability.[17] Patients with allocentric neglect tend to neglect the contralesional side of individual items, regardless of where they appear with respect to the viewer.[18] For example, In the same gap detection test mentioned above, subjects with allocentric hemispatial neglect on the right side will make errors on all areas of the page, specifically neglecting the right side of each individual item.[19]
This differentiation is significant because the majority of assessment measures test only for neglect within the reaching, or peri-personal, range. But a patient who passes a standard paper-and-pencil test of neglect may nonetheless ignore a left arm or not notice distant objects on the left side of the room.
In cases of somatoparaphrenia, which may be caused by personal neglect, patients deny ownership of contralesional limbs. Sacks (1985) described a patient who fell out of bed after pushing out what he perceived to be the severed leg of a cadaver that the staff had hidden under his blanket. Patients may say things like, "I don't know whose hand that is, but they'd better get my ring off!" or, "This is a fake arm someone put on me. I sent my daughter to find my real one."
#### Axis[edit]
Most tests for neglect look for rightward or leftward errors. But patients may also neglect stimuli on one side of a horizontal or radial axis. For example, when asked to circle all the stars on a printed page, they may locate targets on both the left and right sides of the page while ignoring those across the top or bottom.[citation needed]
In a recent study, researchers asked patients with left neglect to project their midline with a neon bulb and found that they tended to point it straight ahead but position it rightward of their true midline. This shift may account for the success of therapeutic prism glasses, which shift left visual space toward the right. By shifting visual input, they seem to correct the mind's sense of midline. The result is not only the amelioration of visual neglect, but also of tactile, motor, and even representational neglect.
#### Orientation[edit]
An important question in studies of neglect has been: "left of what?" That is to say, what frame of reference does a subject adopt when neglecting the left half of his or her visual, auditory, or tactile field? The answer has proven complex. It turns out that subjects may neglect objects to the left of their own midline (egocentric neglect) or may instead see all the objects in a room but neglect the left half of each individual object (allocentric neglect).[20]
These two broad categories may be further subdivided. Patients with egocentric neglect may ignore the stimuli leftward of their trunks, their heads, or their retinae.[20] Those with allocentric neglect may neglect the true left of a presented object, or may first correct in their mind's eye a slanted or inverted object and then neglect the side then interpreted as being on the left.[21] So, for example, if patients are presented with an upside-down photograph of a face, they may mentally flip the object right side up and then neglect the left side of the adjusted image. In another example, if patients are presented with a barbell, patients will more significantly neglect the left side of the barbell, as expected with right temporal lobe lesion. If the barbell is rotated such that the left side is now on the right side, patients will more significantly neglect the left side of the object, even though it is now on the right side of space.[21] This also occurs with slanted or mirror-image presentations. A patient looking at a mirror image of a map of the World may neglect to see the Western Hemisphere despite their inverted placement onto the right side of the map.
Various neuropsychological research studies have considered the role of frame of reference in hemispatial neglect, offering new evidence to support both allocentric and egocentric neglect. To begin, one study conducted by Dongyun Li, Hans-Otto Karnath, and Christopher Rorden examined whether allocentric neglect varies with egocentric position. This experimental design consisted of testing eleven right hemispheric stroke patients. Five of these patients showed spatial neglect on their contralesional side, while the remaining six patients showed no spatial neglect.[22] During the study, the patients were presented with two arrays of seven triangles. The first array ran from southwest to northeast (SW-NE) and the second array ran from southeast to northwest (SE-NW). In a portion of the experimental trials, the middle triangle in the array contained a gap along one side. Participants were tested on their ability to perceive the presence of this gap, and were instructed to press one response button if the gap was present and a second response button if the gap was absent.[22]
To test the neglect frame of reference, the two different arrays were carefully situated so that gap in the triangle fell on opposite sides of the allocentric field. In the SW-NE array, the gap in the triangle fell on the allocentric right of the object-centered axis along which the triangle pointed. In the SE-NW configuration, the gap in the triangle fell on the allocentric left of the object-centered axis.[22] Furthermore, varying the position of the arrays with respect to the participant's trunk midline was used to test egocentric neglect. The arrays were therefore presented at 0° (i.e. in line with the participant's trunk midline), at −40° left, and at +40° right.[22] Ultimately, varying the position of the array within the testing visual field allowed for the simultaneous measurement of egocentric neglect and allocentric neglect. The results of this experimental design showed that the spatial neglect patients performed more poorly for the allocentric left side of the triangle, as well as for objects presented on the egocentric left side of the body.[22] Furthermore, the poor accuracy for detecting features of the object on the left side of the object's axis was more severe when the objects were presented on the contralesional side of the body. Thus, these findings illustrate that both allocentric and egocentric biases are present simultaneously, and that egocentric information can influence the severity of allocentric neglect.[22]
A second study, conducted by Moscovitch and Behrmann, investigated the reference frame of neglect with respect to the somatosensory system. Eleven patients with parietal lobe lesions and subsequent hemispatial neglect were analyzed during this experiment.[23] A double simultaneous stimulation procedure was utilized, during which the patients were touched lightly and simultaneously on the left and right side of the wrist of one hand. The patients were tested both with their palms facing down and with their palms facing up.[23] This experimental condition allowed the scientists to determine whether neglect in the somatosensory system occurs with respect to the sensory receptor surface (egocentric) or with respect to a higher-order spatial frame of reference (allocentric). The results of this experiment showed the hemispatial neglect patients neglected somatosensory stimuli on the contralesional side of space, regardless of hand orientation.[23] These findings suggest that, within the somatosensory system, stimuli are neglected with respect to the allocentric, spatial frame of reference, in addition to an egocentric, sensory frame of reference.[23] Ultimately, the discoveries made by these experiments indicate that hemispatial neglect occurs with respect to multiple, simultaneously derived frames of reference, which dictate the nature and extent of neglect within the visual, auditory, and tactile fields.
## Treatment[edit]
Treatment consists of finding ways to bring the patient's attention toward the left, usually done incrementally, by going just a few degrees past midline, and progressing from there. Rehabilitation of neglect is often carried out by neuropsychologists, occupational therapist, speech-language pathologists, neurologic music therapists, physical therapists, optometrists, and orthoptists.
Forms of treatment that have been tested with variable reports of success include prismatic adaptation, where a prism lens is worn to pull the vision of the patient towards the left, constrained movement therapy where the "good" limb is constrained in a sling to encourage use of the contralesional limb. Eye-patching has similarly been used, placing a patch over the "good" eye. Pharmaceutical treatments have mostly focused on dopaminergic therapies such as bromocriptine, levodopa, and amphetamines, though these tests have had mixed results, helping in some cases and accentuating hemispatial neglect in others. Caloric vestibular stimulation (CVS) has been shown to bring about a brief remission in some cases.[24] however this technique has been known to elicit unpleasant side-effects such as nystagmus, vertigo and vomiting.[25] A study done by Schindler and colleagues examined the use of neck muscle vibration on the contralesional posterior neck muscles to induce diversion of gaze from the subjective straight ahead. Subjects received 15 consecutive treatment sessions and were evaluated on different aspects of the neglect disorder including perception of midline, and scanning deficits. The study found that there is evidence that neck muscle stimulation may work, especially if combined with visual scanning techniques. The improvement was evident 2 months after the completion of treatment.[26]
Other areas of emerging treatment options include the use of prisms, visual scanning training, mental imagery training, video feedback training, trunk rotation, galvanic vestibular stimulation (GVS), transcranial magnetic stimulation (TMS) and transcranial direct-current stimulation (tDCS). Of these emerging treatment options, the most studied intervention is prism adaptation and there is evidence of relatively long-term functional gains from comparatively short-term usage. However, all of these treatment interventions (particularly the stimulation techniques) are relatively new and randomised, controlled trial evidence is still limited. Further research is mandatory in this field of research in order to provide more support in evidence-based practice.[27]
In a review article by Pierce & Buxbaum (2002), they concluded that the evidence for Hemispheric Activation Approaches, which focuses on moving the limb on the side of the neglect, has conflicting evidence in the literature.[28] The authors note that a possible limitation in this approach is the requirement for the patients to actively move the neglected limb, which may not be possible for many patients. Constraint-Induced Therapy (CIT), appears to be an effective, long-term treatment for improving neglect in various studies. However, the use of CIT is limited to patients who have active control of wrist and hand extension. Prism Glasses, Hemispatial Glasses, and Eye-Patching have all appear to be effective in improving performance on neglect tests. Caloric Stimulation treatment appears to be effective in improving neglect; however, the effects are generally short-term. The review also suggests that Optokinetic Stimulation is effective in improving position sense, motor skills, body orientation, and perceptual neglect on a short-term basis. As with Caloric Stimulation treatment, long-term studies will be necessary to show its effectiveness. A few Trunk Rotation Therapy studies suggest its effectiveness in improving performance on neglect tests as well as the Functional Independence Measure (FIM). Some less studied treatment possibilities include treatments that target Dorsal Stream of visual processing, Mental Imagery Training, and Neck Vibration Therapy.[28] Trunk rotation therapies aimed at improving postural disorders and balance deficits in patients with unilateral neglect, have demonstrated optimistic results in regaining voluntary trunk control when using specific postural rehabilitative devices. One such device is the Bon Saint Côme apparatus, which uses spatial exploratory tasks in combination with auditory and visual feedback mechanisms to develop trunk control. The Bon Saint Côme device has been shown to be effective with hemiplegic subjects due to the combination of trunk stability exercises, along with the cognitive requirements needed to perform the postural tasks.[29]
## See also[edit]
* Agnosia (particularly mirror agnosia)
* Allochiria
* Anosognosia
* Blindsight
* Brain damage
* Crossmodal attention
* Delusion
* Hemimotor neglect
* Monothematic delusion
## References[edit]
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13. ^ a b Brandt, Thomas; Dieterich, Marianne; Strupp, Michael; Glasauer, Stefan (2012). "Model Approach to Neurological Variants of Visuo-spatial Neglect". Biological Cybernetics. 106 (11–12): 681–90. doi:10.1007/s00422-012-0517-3. PMID 22941239. S2CID 17077259.
14. ^ a b c d Bisiach, Edoardo (1996). "Unilateral Neglect and the Structure of Space Representation". Current Directions in Psychological Science. 5 (2): 62–65. doi:10.1111/1467-8721.ep10772737. S2CID 7971943.
15. ^ Rode G., Cotton F., Jacquin-Courtois S., Rossetti Y., Bartolomeo P. (2010). "Representation and disconnection in imaginal neglect". Neuropsychologia. 48 (10): 2903–2911. doi:10.1016/j.neuropsychologia.2010.05.032. PMID 20621588. S2CID 25650432.CS1 maint: multiple names: authors list (link)
16. ^ Doricchi, F.; Iaria, G.; Silvetti, M.; Figliozzi, F.; Siegler, I. (2007). "The "ways" we look at dreams: evidence from unilateral spatial neglect (with an evolutionary account of dream bizarreness". Experimental Brain Research: 450-461.
17. ^ a b Vaishnavi, Sandeep; Jesse Calhoun; Anjan Chatterjee (February 2001). "Binding Personal and Peripersonal Space: Evidence from Tactile Extinction" (PDF). Journal of Cognitive Neuroscience. 13 (2): 181–189. CiteSeerX 10.1.1.483.6296. doi:10.1162/089892901564243. PMID 11244544. S2CID 9438503. Retrieved 6 May 2012.
18. ^ a b Kleinman, Jonathan; Melissa Newhart; Cameron Davis; Jennifer Heidler-Gary; Rebecca Gottesman; Argye Hillis (2007). "Right hemispatial neglect: Frequency and characterization following acute left hemisphere stroke" (PDF). Brain and Cognition. 64 (1): 50–59. doi:10.1016/j.bandc.2006.10.005. PMC 1949495. PMID 17174459. Retrieved 8 May 2012.
19. ^ a b Kleinman, Jonathan; Melissa Newhart; Cameron Davis; Jennifer Heidler-Gary; Rebecca Gottesman; Argye Hillis (2007). "Right hemispatial neglect: Frequency and characterization following acute left hemisphere stroke (Fig.2)". Brain and Cognition. 64 (1): 50–59. doi:10.1016/j.bandc.2006.10.005. PMC 1949495. PMID 17174459.
20. ^ a b Beschin, N; Cubelli, R; Sala, S.D.; Spinazzola, L (1997). "Left of What? The role of egocentric coordinates in neglect". Journal of Neurology, Neurosurgery & Psychiatry. 63 (4): 483–489. doi:10.1136/jnnp.63.4.483. PMC 2169750. PMID 9343128.
21. ^ a b Tipper, S.P.; Behrmann, M. (1996). "Object-centered not scene-based visual neglect". Journal of Experimental Psychology: Human Perception and Performance. 22 (5): 1261–1278. doi:10.1037/0096-1523.22.5.1261. PMID 8865621.
22. ^ a b c d e f Li, D; Karnath, H; Rorden, C (2014). "Egocentric representations of space co-exist with allocentric representations: Evidence from spatial neglect". Cortex. 58: 161–169. doi:10.1016/j.cortex.2014.06.012. PMC 4130897. PMID 25038308.
23. ^ a b c d Moscovitch, M; Behrmann, M (1994). "Coding of spatial information int eh somatosensory system: evidence from patients with neglect following parietal lobe damage". Journal of Cognitive Neuroscience. 6 (2): 151–155. doi:10.1162/jocn.1994.6.2.151. PMID 23962367. S2CID 26156232.
24. ^ Gainotti, Guido (1993). "The Role of Spontaneous Eye Movements in Orienting Attention and in Ulinateral Neglect". In Robertson, Ian H.; Marshall, John C. (eds.). Unilateral neglect: clinical and experimental studies. pp. 107–22. ISBN 978-0-86377-208-5.
25. ^ Miller S. M.; Ngo. T. T. (2007). "Studies of caloric vestibular stimulation: implications for the cognitive neurosciences, the clinical neurosciences and neurophilosophy". Acta Neuropsychiatrica. 19 (3): 183–203. doi:10.1111/j.1601-5215.2007.00208.x. PMID 26952856.
26. ^ Schindler I, Kerkhoff G, Karnath HO, Keller I, Goldenberg G (2002). "Neck muscle vibration induces lasting recovery in spatial neglect". J Neurol Neurosurg Psychiatry. 73 (4): 412–9. doi:10.1136/jnnp.73.4.412. PMC 1738082. PMID 12235310.
27. ^ Luaute J, Halligan P, Rode G, Jacquin-Courtois S, Boisson D (2006). "Prism adaptation first among equals in alleviating left neglect: A review". Restorative Neurology and Neuroscience. 24 (4–6): 409–418.
28. ^ a b Pierce S. R.; Buxbaum L. J. (2002). "Treatments of unilateral neglect: A review". Archives of Physical Medicine and Rehabilitation. 83 (2): 256–268. doi:10.1053/apmr.2002.27333. PMID 11833032.
29. ^ de Seze M.; Wiart L.; Bon-Saint-Come A.; Debelleix X.; de Seze M.; Joseph P.; et al. (2001). "Rehabilitation of postural disturbances of hemiplegic patients by using trunk control retraining during exploratory exercises". Archives of Physical Medicine and Rehabilitation. 82 (6): 793–800. doi:10.1053/apmr.2001.0820793. PMID 11387585.
Notes
* Hans-Otto Karnath; A. David Milner; Giuseppe Vallar (2002). The cognitive and neural bases of spatial neglect. Oxford [Oxfordshire]: Oxford University Press. ISBN 978-0-19-850833-5.
* Robertson, I.H., & Halligan, P.W. (1999). Spatial neglect: A clinical handbook for diagnosis and treatment. Hove, East Sussex:Erlbaum.
* Heilman, K.M and Valenstein, E. (2003) Clinical Neuropsychology: Fourth Edition
* Husain, Masud; Rorden, Chris (2003). "Non-spatially lateralized mechanisms i n hemispatial neglect". Nature Reviews Neuroscience. 4 (1): 26–36. doi:10.1038/nrn1005. PMID 12511859. S2CID 11450338.
## Further reading[edit]
* Bartolomeo, Paolo (2014). Attention disorders after right brain damage: Living in halved worlds London : Springer, 2014. (the content is removed from the link.)
* Bartolomeo, Paolo (2007). "Visual neglect" (PDF). Current Opinion in Neurology. 20 (4): 381–6. doi:10.1097/WCO.0b013e32816aa3a3. PMID 17620870. S2CID 18332604.
* Thomas Hoffman, The man whose brain ignores half of his life, The Guardian. Friday 23 November 2012 08.27 EST
* Husain Masud (2008). "PDF". Scholarpedia. 3 (2): 3681. doi:10.4249/scholarpedia.3681.
* Robin Walker Unilateral Neglect: Clinical and Experimental Studies detailed book review at Monash University and University of Durham
* Schindler, l; Kerkhoff G; Karnath HO; Keller I; Goldenberg G. (2002). "Neck muscle vibration induces lasting recovery in spatial neglect". J Neurol Neurosurg Psychiatry. 73 (4): 412–9. doi:10.1136/jnnp.73.4.412. PMC 1738082. PMID 12235310.
* Vaishnavi, Sandeep; Jesse Calhoun; Anjan Chatterjee (February 2001). "Binding Personal and Peripersonal Space: Evidence from Tactile Extinction" (PDF). Journal of Cognitive Neuroscience. 13 (2): 181–189. CiteSeerX 10.1.1.483.6296. doi:10.1162/089892901564243. PMID 11244544. S2CID 9438503. Retrieved 6 May 2012.
* Kleinman, Jonathan; Melissa Newhart; Cameron Davis; Jennifer Heidler-Gary; Rebecca Gottesman; Argye Hillis (2007). "Right hemispatial neglect: Frequency and characterization following acute left hemisphere stroke" (PDF). Brain and Cognition. 64 (1): 50–59. doi:10.1016/j.bandc.2006.10.005. PMC 1949495. PMID 17174459. Retrieved 8 May 2012.
* Kleinman, Jonathan; Melissa Newhart; Cameron Davis; Jennifer Heidler-Gary; Rebecca Gottesman; Argye Hillis (2007). "Right hemispatial neglect: Frequency and characterization following acute left hemisphere stroke (Fig.2)". Brain and Cognition. 64 (1): 50–59. doi:10.1016/j.bandc.2006.10.005. PMC 1949495. PMID 17174459.
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
* v
* t
* e
Symptoms, signs and syndromes associated with lesions of the brain and brainstem
Brainstem
Medulla (CN 8, 9, 10, 12)
* Lateral medullary syndrome/Wallenberg
* PICA
* Medial medullary syndrome/Dejerine
* ASA
Pons (CN 5, 6, 7, 8)
* Upper dorsal pontine syndrome/Raymond-Céstan syndrome
* Lateral pontine syndrome (AICA) (lateral)
* Medial pontine syndrome/Millard–Gubler syndrome/Foville's syndrome (basilar)
* Locked-in syndrome
* Internuclear ophthalmoplegia
* One and a half syndrome
Midbrain (CN 3, 4)
* Weber's syndrome
* ventral peduncle, PCA
* Benedikt syndrome
* ventral tegmentum, PCA
* Parinaud's syndrome
* dorsal, tumor
* Claude's syndrome
Other
* Alternating hemiplegia
Cerebellum
* Latearl
* Dysmetria
* Dysdiadochokinesia
* Intention tremor)
* Medial
* Cerebellar ataxia
Basal ganglia
* Chorea
* Dystonia
* Parkinson's disease
Cortex
* ACA syndrome
* MCA syndrome
* PCA syndrome
* Frontal lobe
* Expressive aphasia
* Abulia
* Parietal lobe
* Receptive aphasia
* Hemispatial neglect
* Gerstmann syndrome
* Astereognosis
* Occipital lobe
* Bálint's syndrome
* Cortical blindness
* Pure alexia
* Temporal lobe
* Cortical deafness
* Prosopagnosia
Thalamus
* Thalamic syndrome
Other
* Upper motor neuron lesion
* Aphasia
Classification
D
* ICD-9-CM: 781.8
External resources
* eMedicine: neuro/719
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hemispatial neglect | c0751421 | 28,729 | wikipedia | https://en.wikipedia.org/wiki/Hemispatial_neglect | 2021-01-18T18:43:17 | {"mesh": ["D010468"], "umls": ["C0751421"], "icd-9": ["781.8"], "wikidata": ["Q152289"]} |
Parasitic pneumonia is an infection of the lungs by parasites.[1][better source needed] It is a rare cause of pneumonia, occurring almost exclusively in immunocompromised persons (persons with a weakened or absent immune system). This is a respiratory infection that may or may not be serious.
There is a variety of parasites that can affect the lungs. In general, these parasites enter the body through the skin or by being swallowed. Once inside the body, these parasites travel to the lungs, most often through the blood. There, a similar combination of cellular destruction and immune response causes disruption of oxygen transportation. Depending on the type of parasite, antihelmynthic drugs can be prescribed.
The most common parasites involved:[2]
* Ascaris
* Schistosoma
* Toxoplasma gondii
## See also[edit]
* Pneumonia
## References[edit]
1. ^ Cheepsattayakorn, Attapon; Cheepsattayakorn, Ruangrong (2014). "Parasitic Pneumonia and Lung Involvement". BioMed Research International. 2014. doi:10.1155/2014/874021. ISSN 2314-6133. Retrieved 31 July 2020.
2. ^ J17.3
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
* v
* t
* e
Pneumonia
Infectious pneumonias
* Bacterial pneumonia
* Viral pneumonia
* Fungal pneumonia
* Parasitic pneumonia
* Atypical pneumonia
* Community-acquired pneumonia
* Healthcare-associated pneumonia
* Hospital-acquired pneumonia
* Ventilator-associated pneumonia
* Severe acute respiratory syndrome
Pneumonias caused by
infectious or noninfectious agents
* Aspiration pneumonia
* Lipid pneumonia
* Eosinophilic pneumonia
* Bronchiolitis obliterans organizing pneumonia
Noninfectious pneumonia
* Chemical pneumonitis
* Idiopathic pneumonia syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Parasitic pneumonia | c0024118 | 28,730 | wikipedia | https://en.wikipedia.org/wiki/Parasitic_pneumonia | 2021-01-18T19:08:41 | {"mesh": ["D008174"], "wikidata": ["Q7135955"]} |
A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pediatric-onset glaucoma of genetic origin | c3711383 | 28,731 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=359 | 2021-01-23T17:58:00 | {"mesh": ["C580055"], "synonyms": ["Hereditary glaucoma"]} |
In addition to the polymorphism of red cell ADA (608958) (EC 3.5.4.4.) and the deficiency state of the enzyme leading to immunodeficiency (102700), elevated red cell ADA (with decreased ATP) has been reported, first by Valentine et al. (1977) in Los Angeles and later by Miwa et al. (1978) and Fujii et al. (1980) in Japan and by Perignon et al. (1982) in France. The proband in the case reported by Miwa et al. (1978) was a 38-year-old Japanese male with compensated hemolytic anemia. His red cells showed moderate stomatocytosis and his red cell ADA activity was 40 times normal. The mother showed a 4-fold increase in red cell ADA; the father's enzyme levels were normal. In lymphocytes ADA levels were nearly normal. Valentine's patient also showed stomatocytosis. In his family 12 affected persons in 3 generations showed ADA levels of 45 to 70 times the normal and no one showed intermediate levels as in the mother of Miwa's family. Serum uric acid levels were mildly elevated. This mutation probably involves a regulatory gene at a locus separate from the structural locus for ADA carried on chromosome 20. In the 10-year-old affected male with severe hemolytic disease reported by Perignon et al. (1982), the level of ADA was about 85 times the normal. Evidence was presented that the excessive ADA activity in red cells was due to an abnormal amount of a catalytically and immunologically normal enzyme. Novelli et al. (1986) found a 4-fold increase in red cell ADA in a 16-month-old Libyan infant without hemolytic anemia but with mild anisopoikilocytosis. The parents, who were related as first cousins, and a healthy brother had normal red cell ADA levels. Glader et al. (1983) suggested that elevated ADA activity is a feature of Blackfan-Diamond anemia (105650).
Chottiner et al. (1987) studied the family originally described by Valentine et al. (1977). They verified that red cell ADA-specific activity was 70 to 100 times the normal levels. Western blots demonstrated a corresponding increase in red cell ADA-specific immunoreactive protein. Analysis of genomic DNA showed no evidence for amplification or major structural changes in the ADA gene. ADA-specific mRNA from proband reticulocytes was comparable in size and amount to mRNA from control reticulocytes. This finding excluded increased transcription of the gene or increased stability of red cell ADA mRNA. On the other hand, Chottiner et al. (1987) found evidence of posttranslational abnormality. In vitro translation and immunoprecipitation experiments consistently showed a band of about 42,000 molecular weight synthesized from proband reticulocyte mRNA but not control mRNA. These data strongly suggested that red cell ADA overabundance in this disorder was due to an abnormality intrinsic to reticulocyte ADA mRNA that results in its increased translation. There have been several examples of mutations that affect the translational efficiency of specific mRNAs, usually mutations in the 5-prime noncoding region. The reason for the tissue specificity of the abnormality was not clear. The in vitro translation experiments made the possibility of a transacting factor coded by a separate locus less likely.
In the form of severe combined immunodeficiency with deficiency of ADA, structural changes such as point mutations have been identified in the ADA gene on chromosome 20 and the deficiency is found in all tissues. In the disorder of ADA excess, only the erythroid elements show the abnormality and the ADA molecule is structurally normal by all the usual criteria, including electrophoretic migration, kinetics for various substrates and inhibitors, heat stability, specific activity, pH optimum, immunologic reactivity, amino acid composition, and peptide patterns. The defect is transmitted as an autosomal dominant. The mutation is presumably in a gene separate from the structural gene for ADA. The study of these families with DNA markers located in the region of the ADA gene on 20q might prove conclusively that the determinant is at a site remote from the ADA gene. Such experiments were performed by Chen et al. (1993), who, to determine whether increased ADA mRNA is due to a cis-acting or a trans-acting mutation, took advantage of a highly polymorphic TAAA repeat located at the tail end of an Alu repeat approximately 1.1 kb upstream of the ADA gene. Using PCR to amplify this region, they identified 5 different alleles in 19 members of an affected family. All 11 affected individuals had an ADA allele with 12 TAAA repeats, whereas none of the 8 normal individuals did. They concluded that this disorder results from a cis-acting mutation in the vicinity of the ADA gene. Chen and Mitchell (1994) examined reporter gene activity using constructs containing 10.6 kb of 5-prime flanking sequence and 12.3 kb of the first intron of the ADA gene from normal and mutant alleles. No differences in chloramphenicol acetyltransferase (CAT) activity were found in transient transfection experiments using erythroleukemia cell lines. Furthermore, transgenic mice containing the ADA constructs showed CAT activities in erythrocytes and bone marrow that did not differ between the normal and mutant alleles. Results were interpreted as indicating that the mutation responsible for ADA overexpression is unlikely to reside in the 5-prime and promoter regions or in the regulatory regions of the first intron.
Inheritance \- Autosomal dominant Lab \- Elevated red cell ADA \- Decreased ATP \- Serum uric acid mildly elevated Heme \- Hemolytic anemia \- Red cell stomatocytosis \- Anisopoikilocytosis ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO | c1863235 | 28,732 | omim | https://www.omim.org/entry/102730 | 2019-09-22T16:45:17 | {"mesh": ["C566314"], "omim": ["102730"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (April 2012) (Learn how and when to remove this template message)
Sarcopenic obesity is a medical condition which is defined as the presence of both sarcopenia (loss of muscle) and obesity.[1] Sarcopenia refers to the presence of low muscle mass and either low muscular strength or low physical performance. When this is accompanied by a high fat mass the condition is known as sarcopenic obesity.[1]
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
## Symptoms[edit]
The symptoms are similar to those of sarcopenia and obesity. The individual may show a BMI that is appropriate and healthy to his or her age but will look fat in appearance.
## Causes[edit]
The disease is caused due to a variety of reasons:
* It can be due to aging, wherein muscles become weak due to a lack of exercise, and the individual gains weight due to the same reason.
* In other cases, the cause is genetic, wherein the individual is born with a reduced ability to grow muscle mass.
## Diagnosis[edit]
Sarcopenic obesity is a combination of high body fat and low BMI. Can be diagnosed by measures such as waist-hip ratio.
## Treatment[edit]
An appropriate weight training and weight loss program can help to improve the patient's condition.
## See also[edit]
* Normal weight obesity
* Weight training
* Journal of Cachexia, Sarcopenia and Muscle
## References[edit]
1. ^ a b Cruz-Jentoft, Alfonso J.; Baeyens, Jean Pierre; Bauer, Jürgen M.; Boirie, Yves; Cederholm, Tommy; Landi, Francesco; Martin, Finbarr C.; Michel, Jean-Pierre; Rolland, Yves (2010-07-01). "Sarcopenia: European consensus on definition and diagnosis: Report of the European Working Group on Sarcopenia in Older People". Age and Ageing. 39 (4): 412–423. doi:10.1093/ageing/afq034. ISSN 1468-2834. PMC 2886201. PMID 20392703.
* Sharma, Arya M. (2008-06-30). "Sarcopenic Obesity and Cancer". Dr. Sharma's Obesity Notes.[unreliable medical source?]
* "Importance of sarcopenic obesity for mobility limitations, morbidity and mortality in seniors". Gerontology Research Centre, University of Jyväskylä. Archived from the original on 2011-08-07.
* Zamboni, Mauro; Mazzali, Gloria; Fantin, Francesco; Rossi, Andrea; Di Francesco, Vincenzo (2008). "Sarcopenic obesity: A new category of obesity in the elderly". Nutrition, Metabolism and Cardiovascular Diseases. 18 (5): 388–95. doi:10.1016/j.numecd.2007.10.002. PMID 18395429.
* "Sarcopenic Obesity: Now here's something (not) to look forward to..." (PDF). Professor Trim's Waistline. Australian Fitness Network. Summer 2005.[unreliable medical source?]
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sarcopenic obesity | c4063061 | 28,733 | wikipedia | https://en.wikipedia.org/wiki/Sarcopenic_obesity | 2021-01-18T18:47:47 | {"wikidata": ["Q7423605"]} |
Ethylmalonic encephalopathy (EE) causes damage to the brain, nerves, and blood vessels. Symptoms are present at birth and tend to get worse over time. These include low muscle tone, spasms of the arms and legs, seizures, and developmental delay. Blood vessel damage causes tiny red spots under the skin (petechiae) and blue discoloration in the hands and feet due to reduced blood flow (acrocyanosis). Chronic bloody diarrhea and difficulty swallowing leads to poor growth. EE is considered a lethal condition, and most people die in childhood. Ethylmalonic encephalopathy is caused by a variant in the ETHE1 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, laboratory testing of blood and urine, and imaging studies of the brain. The result of genetic testing can be used to confirm the diagnosis. Treatment is focused on support and managing the symptoms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ethylmalonic encephalopathy | c1865349 | 28,734 | gard | https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy | 2021-01-18T18:00:38 | {"mesh": ["C535737"], "omim": ["602473"], "orphanet": ["51188"], "synonyms": ["Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria", "Encephalopathy, ethylmalonic", "Encephalopathy, petechiae, and ethylmalonic aciduria", "EPEMA syndrome", "EME"]} |
For a phenotypic description and a discussion of genetic heterogeneity of major depressive disorder (MDD), see 608516.
Mapping
Abkevich et al. (2003) used 628 microsatellite markers in a genomewide scan of 1,890 individuals from 110 Utah pedigrees with a strong family history of major depression. Each pedigree had a minimum of 4 affected individuals. Individuals were screened using the Brief Screen for Psychopathology, which the authors validated for the purpose of this study, and the phenotypes were independently assigned by at least 2 clinicians. Seven hundred and eighty-four individuals (238 males and 546 females) had recurrent major depressive disorder, 161 (48 males and 113 females) had a single episode of major depressive disorder, and 162 (62 males and 100 females) had bipolar disorder The authors identified a single significant linkage to major depressive disorder in males at marker D12S1300 (multipoint heterogeneity lod score = 4.6; P = 0.00003 after adjustment for multiple testing). With additional markers, the linkage evidence became highly significant, with the multipoint heterogeneity lod score at marker D12S1706 increasing to 6.1 (P = 0.0000007 after adjustment for multiple testing). Recombination events defined a 6.5-Mb critical region between markers 12-MYR0256 and D12S1607. Abkevich et al. (2003) interpreted the findings as providing strong evidence for a sex-specific susceptibility gene for major depression at 12q22-q23.2.
Harlan et al. (2006) studied variants of the APAF1 gene (602233) to determine molecular phenotypes using an in vitro reconstruction of the apoptosome complex in which Apaf-1 activates caspase-9 (602234) and thus initiates a cascade of proteolytic events leading to apoptotic destruction of the cell. Cellular phenotypes were measured using a yeast heterologous expression assay. Human variants encoded by APAF1 alleles that segregate with MDD1 demonstrated a common gain-of-function phenotype in both assay systems. In contrast, other APAF1 variants showed neutral or loss-of-function phenotypes. Harlan et al. (2006) concluded that depression-associated alleles have a common phenotype that is distinct from that of nonassociated variants, suggesting an etiologic role for enhanced apoptosis in major depression.
By genomewide association study involving 353 German patients with depression and 366 controls, Kohli et al. (2011) found a significant association between unipolar major depression and the A allele of SNP rs1545843 on chromosome 12q21.31 under a recessive model (odds ratio (OR) of 2.85, p = 5.53 x 10(-8)). The findings were replicated in 3 German samples, a Dutch sample, and an African American sample, with a combined patient cohort of 2,452 patients and 3,755 controls (OR of 1.42, p = 2.3 x 10(-8) under a recessive model for homozygous carriers of the A allele). Similar findings were observed in another replication study of 1,636 cases and 7,246 controls; however, the association did not hold for late-life depression, which may have a different pathophysiology. The closest gene is SLC6A15 (607971), which ends 287 kb distal to the region of association. The gene shows highest expression in the brain and codes for a sodium-dependent branched-chain amino acid transporter. Gene expression studies on premortem hippocampus tissue from 137 patients with temporal lobe epilepsy showed that the AA genotype of rs1545843 was associated with significantly decreased expression of the full-length SLC6A15 isoform in the hippocampus. Studies of lymphoblastoid cell lines from 210 individuals from the HapMap cohort showed a similar association, with carriers of the AA genotype showing decreased SLC6A15 expression. Imaging results suggested an association with the risk genotype and decreased hippocampal neuronal integrity. Finally, mice exposed to chronic stress showed decreased (1.9-fold) levels of Slc6a15 mRNA in the CA1 region of the hippocampus compared to controls. Kohli et al. (2011) postulated that variation in expression of the SLC6A15 gene may contribute to susceptibility to depression, perhaps by altering neuronal integrity and neurotransmission, particularly in the hippocampus.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MAJOR DEPRESSIVE DISORDER 1 | c1837929 | 28,735 | omim | https://www.omim.org/entry/608520 | 2019-09-22T16:07:41 | {"mesh": ["C563919"], "omim": ["608520"], "synonyms": ["Alternative titles", "MDD1", "UNIPOLAR DEPRESSION 1"]} |
A relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.
## Epidemiology
The prevalence of this form of brachyolmia is not known. About 10 cases have been reported.
## Clinical description
Patients with brachyolmia, Maroteaux type are reported to have short stature/short trunk, scoliosis and generalized platyspondyly with rounding of the anterior and posterior vertebral bodies. The vertebral bodies show less elongation compared to those in patients with other types of the disorder (autosomal recessive brachyolmia, Hobaek/Toledo type, autosomal dominant brachyolmia; see these terms). Some cases are associated with precocious calcification of the cerebral falx and non-specific minor facial anomalies. Intellectual ability is normal.
## Etiology
The etiology of this form of brachyolmia is not known. The causative gene mutation has not been identified.
## Genetic counseling
Brachyolmia, Maroteaux type is presumed to be autosomal recessive because of a few reported occurrences in siblings. For precise genetic counseling, however, it is essential to rule out mild skeletal dysplasias of autosomal dominant inheritance, such as mild cases with type 2 collagenopathy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Brachyolmia, Maroteaux type | c3159322 | 28,736 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93302 | 2021-01-23T18:37:28 | {"mesh": ["C563218"], "omim": ["613678"], "umls": ["C3159322"], "icd-10": ["Q76.3"], "synonyms": ["Brachyolmia type 2"]} |
An autosplenectomy (from 'auto-' self, '-splen-' spleen, '-ectomy' removal) is a negative outcome of disease and occurs when a disease damages the spleen to such an extent that it becomes shrunken and non-functional.[1] The spleen is an important immunological organ that acts as a filter for red blood cells, triggers phagocytosis of invaders, and mounts an immunological response when necessary.[2] Lack of a spleen, called asplenia, can occur by autosplenectomy or the surgical counterpart, splenectomy. Asplenia can increase susceptibility to infection.[3] Autosplenectomy can occur in cases of sickle-cell disease where the misshapen cells block blood flow to the spleen, causing scarring and eventual atrophy of the organ.[2] Autosplenectomy is a rare condition that is linked to certain diseases but is not a common occurrence. It is also seen in systemic lupus erythematosus (SLE).
## Contents
* 1 Consequences
* 1.1 Testing for autosplenectomy
* 1.1.1 Howell-Jolly bodies
* 1.1.2 Pitted erythrocytes
* 2 Diseases that cause autosplenectomy
* 2.1 Sickle cell anemia
* 2.2 Pneumococcal sepsis
* 3 References
## Consequences[edit]
Main article: Asplenia
Absence of effective splenic function or absence of the whole spleen (asplenia) is associated with increased risks of overwhelming post splenectomy infection, especially from polysaccharide encapsulated bacteria and organisms that invade erythrocytes.[4] People without a spleen have a weakened immune system, although other immune organs compensate for the missing spleen.[5] Vaccination against encapsulated bacteria and prophylactic antibiotics can be used to counteract lowered immunity in asplenic patients. Specifically, people without a spleen are recommended to be vaccinated against pneumonia, influenza, Haemophilus influenzae type b and meningococci.[5]
### Testing for autosplenectomy[edit]
One of the spleen's main tasks is to filter the blood and remove and recycle damaged or old red blood cells.[6] Splenic function can be measured by filtering capabilities, as indicated by number of Howell-Jolly bodies or pitted erythrocytes in the blood.[2] Both of these tests examine whether or not the spleen is functioning normally by testing splenic outputs.
#### Howell-Jolly bodies[edit]
Howell–Jolly bodies are found on red blood cells and contain chromatin remnants from basophilic cells.[7] Under normal conditions, these nuclear remnants are removed from the blood by the spleen's filtering capabilities. Howell-Jolly bodies can be identified and quantified using a blood smear or by flow cytometry.[2] A high number of Howell-Jolly bodies is indicative of splenic hypofunction and potentially autosplenectomy.
#### Pitted erythrocytes[edit]
Erythrocytes with membrane pits can be indicative of splenic dysfunction as a healthy spleen clears blood of pitted erythrocytes. Pitted erythrocytes can be counted using Normarsky optics.[8] Humans with healthy spleens have less than two percent of their red blood cells contain pits. In comparison, a person with asplenia may have up to 50% of their red blood cells contain pits.[9]
## Diseases that cause autosplenectomy[edit]
### Sickle cell anemia[edit]
The most frequent cause of autosplenectomy is sickle cell anemia[10] which causes progressive splenic hypofunction over time. Increased deoxygenation causes sickling of red blood cells, which adhere to the spleen wall and splenic macrophages causing ischemia.[2] This ischemia can result in splenic sequestration, where large amounts of blood pool in the spleen but do not flow within vasculature.[11] This lack of blood flow can cause atrophy in the spleen and can lead to autosplenectomy.[citation needed]
### Pneumococcal sepsis[edit]
Pneumococcal sepsis, or whole-body infection caused by the Streptococcus pneumoniae bacteria, has been reported to cause autosplenectomy but is a very rare and poorly understood complication of the infection.[12]
## References[edit]
1. ^ "Autosplenectomy" with sickle cell anemia, gross at WebPath, The Internet Pathology Laboratory for Medical Education at Mercer University School of Medicine. Retrieved September 10, 2011
2. ^ a b c d e Brousse, Valentine; Buffet, Pierre; Rees, David (2014-07-01). "The spleen and sickle cell disease: the sick(led) spleen". British Journal of Haematology. 166 (2): 165–176. doi:10.1111/bjh.12950. ISSN 1365-2141. PMID 24862308.
3. ^ "Splenectomy Risks - Mayo Clinic". www.mayoclinic.org. Retrieved 2016-03-02.
4. ^ Brigden, Malcolm L. "Detection, Education and Management of the Asplenic or Hyposplenic Patient - American Family Physician". www.aafp.org. Retrieved 2016-02-16.
5. ^ a b "Splenectomy Results - Mayo Clinic". www.mayoclinic.org. Retrieved 2016-03-03.
6. ^ "What Is the Spleen? Functions & Info | Children's Hospital Pittsburgh". www.chp.edu. Retrieved 2016-03-03.
7. ^ Kirkineska, L (2014). "Functional hyposplenism". Hippokratia. 18 (1): 7–11. PMC 4103047. PMID 25125944.
8. ^ Di Sabatino, Antonio (April 6, 2011). "Post-splenectomy and hyposplenic states". Lancet. 378 (9785): 86–97. doi:10.1016/s0140-6736(10)61493-6. PMID 21474172.
9. ^ "Red Blood Cell Pit Count". Red Blood Cell Lab. Children's Hospital Oakland Research Institute. 2010. Retrieved March 2, 2016.
10. ^ Henry Knipe; Frank Gaillard. "Autosplenectomy". radiopaedia.org. Retrieved 30 December 2015.
11. ^ Ashley-Koch, A (2000). "Sickle Hemoglobin (Hb S) Allele and Sickle Cell Disease: A HuGE Review" (PDF). American Journal of Epidemiology.
12. ^ Santilli, Daniele (2003). "Autosplenectomy and Antiphospholipid Antibodies in Systemic Lupus Erythematosus: A Pathogenic Relationship?". Seminars in Arthritis and Rheumatism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autosplenectomy | c4523977 | 28,737 | wikipedia | https://en.wikipedia.org/wiki/Autosplenectomy | 2021-01-18T18:40:50 | {"wikidata": ["Q4826997"]} |
Brittle asthma
Asthma (lungs)
PreventionAllergen avoidance and self-management approach
Brittle asthma is a type of asthma distinguishable from other forms by recurrent, severe attacks.[1][2][3] There are two subtypes divided by symptoms: Type 1 and Type 2,[4] depending on the stability of the patient's maximum speed of expiration, or peak expiratory flow rate (PEFR). Type 1 is characterized by sustained, chronic variability of PEFR, while type 2 is distinguished by sudden unpredictable drops in PEFR where asthma symptoms are otherwise well controlled and the function of the lungs is not substantially impaired.[citation needed]
Brittle asthma is one of the "unstable" subtypes of "difficult asthma", a term used to characterize the less than 5% of asthma cases that do not respond to maximal inhaled treatment, including high doses of corticosteroids combined with additional therapies such as long-acting beta-2 agonists.[5][6]
## Contents
* 1 Diagnosis
* 1.1 Types
* 2 Treatment
* 3 Epidemiology
* 4 References
## Diagnosis[edit]
### Types[edit]
The 2005 Oxford Textbook of Medicine distinguishes type 1 brittle asthma by "persistent daily chaotic variability in peak flow (usually greater than 40 per cent diurnal variation in PEFR more than 50 per cent of the time)", while type 2 is identified by "sporadic sudden falls in PEFR against a background of usually well-controlled asthma with normal or near normal lung function".[7] In both types, patients are subject to recurrent, severe attacks. The cardinal symptoms of an asthma attack are shortness of breath (dyspnea), wheezing, and chest tightness.[8] Individuals with type 1 suffer chronic attacks in spite of ongoing medical therapy, while those with type 2 experience sudden, acute and even potentially life-threatening attacks even though otherwise their asthma seems well managed.[9]
When first defined by Margaret Turner-Warwick in 1977, the term brittle asthma was used specifically to describe type 1, but as studies into the phenotype were conducted the second type was also distinguished.[10]
## Treatment[edit]
In addition to any issues of treatment compliance, and maximised corticosteroids (inhaled or oral) and beta agonist, brittle asthma treatment also involves for type 1 additional subcutaneous injections of beta2 agonist and inhalation of long acting beta-adrenoceptor agonist,[11] whilst type 2 needs allergen avoidance and self-management approaches.[12] Since catastrophic attacks are unpredictable in type 2, patients may display identification of the issue, such as a MedicAlert bracelet, and carry an epinephrine autoinjector.[7]
## Epidemiology[edit]
The condition is rare. 1999's Difficult Asthma estimates a prevalence of approximately 0.05% brittle asthma sufferers among the asthmatic population.[13] Though found in all ages, it is most commonly found in individuals between the ages of 18 and 55; it is present in both sexes, though type 1 has been diagnosed in three times as many women as men.[13] Hospitalization is more frequent for type 1 than type 2.[13]
## References[edit]
1. ^ Holgate, Stephen T.; Homer A. Boushey; Leonardo M. Fabbri, eds. (1999). Difficult asthma. Informa Health Care. p. 291. ISBN 1-85317-556-0.
2. ^ Gupta D, Ayres JG (2001). "Brittle asthma: a separate clinical phenotype of asthma?". Indian J Chest Dis Allied Sci. 43 (1): 33–8. PMID 11370504.
3. ^ Ayres JG, Jyothish D, Ninan T (March 2004). "Brittle asthma". Paediatr Respir Rev. 5 (1): 40–4. doi:10.1016/j.prrv.2003.09.003. PMID 15222953.
4. ^ Ayres JG, Miles JF, Barnes PJ (April 1998). "Brittle asthma". Thorax. 53 (4): 315–21. doi:10.1136/thx.53.4.315. PMC 1745199. PMID 9741378.
5. ^ Warrell, David A. (2005). Oxford textbook of medicine: Sections 18-33. Oxford Medical Publications. 3 (4th ed.). Oxford University Press. p. 1346. ISBN 0-19-856978-5.
6. ^ Ogorodova LM, Selivanova PA, Gereng EA, Bogomiakov VS, Volkova LI, Pleshko RI (2008). "[Pathomorphological characteristics of unstable bronchial asthma (brittle phenotype)]". Ter. Arkh. (in Russian). 80 (3): 39–43. PMID 18441682.
7. ^ a b Warrell, 1347.
8. ^ Saunders (2005). "Asthma". In Homer A. Boushey Jr., M.D.; David B. Corry, M.D.; John V. Fahy, M.D.; Esteban G. Burchard, M.D.; Prescott G. Woodruff, M.D.; et al. (eds.). Mason: Murray & Nadel's Textbook of Respiratory Medicine (4th ed.). Elsevier.
9. ^ Holgate et al., 292.
10. ^ Waldron, Jill (2007). Asthma Care in the Community. Wiley-Interscience. p. 122. ISBN 978-0-470-03000-4.
11. ^ Graziani E, Petroianni A, Terzano C (2004). "Brittle asthma". Eur Rev Med Pharmacol Sci. 8 (4): 135–8. PMID 15636398.
12. ^ Toungoussova O, Foschino Barbaro MP, Esposito LM, et al. (June 2007). "Brittle asthma". Monaldi Arch Chest Dis. 67 (2): 102–5. doi:10.4081/monaldi.2007.497. PMID 17695694.
13. ^ a b c Holgate et. al, 293.
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*[v]: View this template
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*[Cases per 100k]: Cases per 100,000 county population
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*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
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*[transl.]: translation
*[α2δ]: alpha2delta subunit
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*[H1R]: H1 receptor
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| Brittle asthma | c0729337 | 28,738 | wikipedia | https://en.wikipedia.org/wiki/Brittle_asthma | 2021-01-18T18:39:08 | {"wikidata": ["Q4971667"]} |
Sharks typically targeted for their liver oil include the school and gulper shark, and the basking shark (pictured).[1] All three of these species have been assessed by the IUCN as Vulnerable due to overfishing.[2][3][4]
Shark liver oil is an oil obtained from the livers of sharks. It has been used for centuries as a folk remedy to promote the healing of wounds and as a remedy for respiratory tract and digestive system problems.[5][6] It is still promoted as a dietary supplement, and additional claims have been made that it can treat other maladies such as cancer, HIV, radiation illness, swine flu, and the common cold.[5][7] To date, none of these claims has been medically validated and shark liver oil (alone) is not a medication prescribed or utilized by American physicians.[7] However, it is a component of some moisturizing skin lotions[6] and hemorrhoid medications.[8][9]
## Contents
* 1 Function in the shark
* 2 Composition
* 3 Medicinal use
* 4 Shark oil barometers
* 5 References
## Function in the shark[edit]
Many fish maintain buoyancy with swim bladders. However sharks lack swim bladders, and maintain their buoyancy instead with large livers that are full of oil.[10] This stored oil may also function as a nutrient when food is scarce.[11] Deep sea sharks are usually targeted for their oil, because the livers of these species can account for up to 5-10% of their total weight.[1]
## Composition[edit]
A principal component of many shark oils is squalene, a triterpenoid (C30H50), ranging up to 90% of the oil, depending on the species. In Centrophorus species squalene may account for 15% of the total body weight. Pristane, another terpenoid (C19H40), is often a minor component, ranging up to nearly 8% of the oil.[12]
## Medicinal use[edit]
This section needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the section and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Shark liver oil" – news · newspapers · books · scholar · JSTOR (March 2013)
Most shark liver oil supplements have not been tested to find out if they interact with medicines, foods, or other herbs and supplements. Even though some reports of interactions and harmful effects may be published, full studies of interactions and effects are not often available. Although many people have taken shark liver oil, the issue of potential toxicity at the usual doses has not been well studied. Some mild digestive problems such as nausea, upset stomach, and diarrhea have been reported. The safe range of doses for shark liver oil has not yet being determined, though overdosing can have toxic consequences.[5][13]
Some animal studies have found that shark liver oil and its components may raise blood cholesterol levels. A Japanese study found some shark liver oil supplements to be contaminated with polychlorinated biphenyls (PCBs) and polybrominated diphenyl ethers (PBDEs).[14] PCBs can have harmful effects in humans, and may increase the risk of some types of cancer.[5] People with seafood allergies may also react to shark liver oil.[5]
Shark liver oil has been misleadingly promoted as a treatment for cancer. In addition, it has been confused with the word "Charcoal" in multiple translations. Despite claims that the alkoxy-glycerols derived from shark liver oil could reduce tumor growth, there is not sufficient evidence to prove this to be a viable treatment option.[15]
## Shark oil barometers[edit]
Traditionally, the people of Bermuda rely on shark-oil based "barometers" to predict storms and other severe weather. Small bottles of oil are hung outside. If the bottle is clear then the weather will be good, if it's cloudy then take cover. They are not true barometers, and how they work is disputed.[16]
## References[edit]
1. ^ a b Vannuccini, Stefania (2002) Shark liver oil products In: Shark Utilization, Marketing and Trade, Fisheries Technical paper 389, FAO, Rome. ISBN 92-5-104361-2.
2. ^ Fowler, S.L. (2005). "Cetorhinus maximus". IUCN Red List of Threatened Species. 2005: e.T4292A10763893. doi:10.2305/IUCN.UK.2005.RLTS.T4292A10763893.en.
3. ^ "Galeorhinus galeus (School shark)". IUCN Red List of Threatened Species. 2005-06-17. 2005-06-17. Retrieved 2013-03-26.old-form url
4. ^ Guallart; et al. (2006). "Centrophorus granulosus". IUCN Red List of Threatened Species. 2006. Retrieved 11 May 2006.old-form url
5. ^ a b c d e [1] American Cancer Society. Retrieved 28 March 2013.
6. ^ a b Gupta P, K Singhal, AK Jangra, V Nautiyal and A Pandey (2012) "Shark liver oil: A review" Archived 2013-01-23 at the Wayback Machine Asian Journal of Pharmaceutical Education and Research, 1 (2): 1-15.
7. ^ a b Shark liver oil WebMD. Retrieved 28 March 2013.
8. ^ PE-shark liver oil-cocoa buttr Rect WebMD. Retrieved 28 March 2013.
9. ^ Hemorrhoidal suppository Daily Med. Retrieved 28 March 2013.
10. ^ Oguri, M (1990) "A review of selected physiological characteristics unique to elasmobranchs" In: Elasmobranchs as living resources: advances in the biology, ecology, systematics and the status of the fisheries, eds. J. H. L. Pratt, S. H. Gruber and T. Taniuchi, US Department of Commerce, NOAA technical report NMFS 90, pp.49–54.
11. ^ Bone Q and Roberts BL (1969) "The density of elasmobranchs" Journal of the Marine Biological Association, 49: 913–937.
12. ^ Ackman, RG. Marine Biogenic Lipids, Fats and Oils, Vol 1. CRC Press 1989, pages 42-43.
13. ^ S Kilincalp S, M Deveci, O Basar, F Ekiz, S Coban and O Yuksel (2012) Shark liver oil: hidden dangers" Annals of Hepatology, 11 (5): 728–730.
14. ^ Akutsu K; Tanaka Y; Hayakawa K (2006). "Occurrence of polybrominated diphenyl ethers and polychlorinated biphenyls in shark liver oil supplements". Food Addit. Contam. 23 (12): 1323–1329. doi:10.1080/02652030600892966. PMID 17118876. S2CID 33249788.
15. ^ Sheldon Saul Hendler; David Rorvik, eds. (2008). PDR for Nutritional Supplements. Montvale, NJ: Physician's Desk Reference Inc. p. 22. ISBN 978-1-56363-710-0.
16. ^ Bermuda Traditions & Their Sources
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See also
List of vegetable oils
Cooking oil
Essential oil
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
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*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Shark liver oil | None | 28,739 | wikipedia | https://en.wikipedia.org/wiki/Shark_liver_oil | 2021-01-18T19:03:50 | {"wikidata": ["Q4380845"]} |
A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Photosensitive epilepsy | c0393720 | 28,740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166409 | 2021-01-23T17:10:34 | {"gard": ["5648"], "mesh": ["D020195"], "omim": ["132100", "609572", "609573"], "umls": ["C0393720"], "icd-10": ["G40.5"]} |
A number sign (#) is used with this entry because of evidence that the Curth-Macklin type of ichthyosis hystrix (IHCM) is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13.
Description
Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior (146600), only rudimentary tonofilaments are found with compensatory production of mucous granules.
Clinical Features
This form of ichthyosis was first reported by Curth and Macklin (1954) and was restudied by Ollendorff-Curth et al. (1972) and Anton-Lamprecht et al. (1973). An abnormality of tonofibrils is demonstrated by electron microscopy, namely, formation of concentric unbroken shells of tonofilaments surrounding the nucleus. Tonofibrils are fibrillar structural proteins in keratinocytes which, although already present in dividing basal cells, are formed in increasing amounts by the differentiating cells. They are the morphologic equivalent of the biochemically well-characterized prekeratin and precursors of the alpha-keratin of horn cells. Blister formation does not occur.
Pinkus and Nagao (1970) observed a case in an African American.
Bonifas et al. (1993) indicated that, during the previous 4 decades, 2 families with IHCM had been described: the family of Curth and Macklin (1954) and the family of Niemi et al. (1990). In the latter family, patients had thick, furrowed-appearing hyperkeratosis over joints.
Mapping
By linkage studies in a family with IHCM, Bonifas et al. (1993) excluded linkage between IHCM and the cluster of keratin genes on 12q and 17q. They concluded that abnormalities of genes encoding proteins other than keratins may disrupt the keratin intermediate filament network and be associated with binucleated keratinocytes. For example, the finding of disruption of the intermediate filament network following transfection of DNA encoding a mutant desmoplakin (125647) (Stappenbeck and Green, 1992) is compatible with that conclusion.
By linkage analysis in a 3-generation African American family in which 5 members had IHCM, Sprecher et al. (2001) excluded potential candidate regions on 1q, 17q, and 18q, and found potential linkage to the type II keratin cluster at 12q (lod score of 1.5 at locus D12S1622); affected members shared a common disease-associated haplotype across 18 cM on 12q.
Molecular Genetics
In affected members of a 3-generation family with IHCM showing linkage to chromosome 12q, Sprecher et al. (2001) identified a heterozygous 5191GG-A mutation in the KRT1 gene (139350.0013) leading to a frameshift and premature termination codon 229 bp downstream. Structural analyses disclosed a failure in keratin intermediate filament bundling, retraction of the cytoskeleton from the nucleus, and failed translocation of loricrin (152445) to the desmosomal plaques. Bonifas et al. (1993) had excluded IHCM from both keratin gene loci; however, the phenotypic features of the family assessed in that study, including localized hyperkeratotic plaques over the joints and sparing of palms and soles, were milder and distinct from those found in the family reported by Sprecher et al. (2001). Therefore, genetic heterogeneity cannot be excluded in IHCM.
KRT1 frameshift mutations at almost the same position have been found in IHCM (139350.0013) and in striate palmoplantar keratoderma III (SPPK3; 607654) (139350.0012). Ishida-Yamamoto et al. (2003) found normal desmosome formation in IHCM, suggesting that the cytopathologic effects leading to hyperkeratosis and PPK in this disorder differ from those in SPPK, and may be related to abnormalities in supramolecular keratin intermediate filament organization and cytoplasmic trafficking of insoluble proteins, such as loricrin, as suggested by Sprecher et al. (2001). Ishida-Yamamoto et al. (2003) also suggested that mutant KRT1 may affect the shapes of the cells and the integrity of other cellular structures, such as organelles and the nucleus, leading to gross alteration in the overall structures of the epidermis.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Ichthyosis hystrix Electron Microscopy \- Abnormal tonofibrils with formation of concentric unbroken shells of tonofilaments surrounding the nucleus MOLECULAR BASIS \- Caused by mutation in the KRT1 gene (KRT1, 139350.0013 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE | c0432307 | 28,741 | omim | https://www.omim.org/entry/146590 | 2019-09-22T16:39:38 | {"omim": ["146590"], "orphanet": ["79503"]} |
A number sign (#) is used with this entry because of evidence that thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as thiamine metabolism dysfunction syndrome-1 (THMD1), is caused by homozygous mutation in the SLC19A2 (603941) gene, which encodes a thiamine transporter protein, on chromosome 1q24.
Description
Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009).
### Genetic Heterogeneity of Disorders Due to Thiamine Metabolism Dysfunction
See also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2; 607483), caused by mutation in the SLC19A3 gene (606152) on chromosome 2q36; Amish lethal microcephaly (THMD3; 607196) and bilateral striatal necrosis and progressive polyneuropathy (THMD4; 613710), both caused by mutation in the SLC25A19 gene (606521) on chromosome 17q25; and THMD5 (614458), caused by mutation in the TPK1 gene (606370) on chromosome 7q35.
Clinical Features
Rogers et al. (1969) described an 11-year-old girl with megaloblastic anemia responsive only to thiamine. She also had diabetes mellitus, amino aciduria, and sensorineural deafness. Viana and Carvalho (1978) described a 6-year-old girl with congenital megaloblastic anemia that responded completely only to pharmacologic doses of thiamine. Relapse occurred twice when thiamine was discontinued. As in the case of Rogers et al. (1969), the child also had latent diabetes mellitus and sensorineural deafness. Situs inversus viscerum totalis was also present. The parents were first cousins and were partially deaf. The syndrome was further delineated and autosomal recessive inheritance corroborated by Haworth et al. (1982), who described affected Pakistani brother and sister. The bone marrow showed megaloblastic erythropoiesis and many ringed sideroblasts, and, by electron microscopy, iron-laden mitochondria in erythroblasts. Autosomal recessive inheritance was demonstrated by the striking pedigree published by Mandel et al. (1984): 2 males and 3 females in 3 related sibships, each with closely related parents, were observed. The proband was the youngest reported case. She presented at age 3 months with severe anemia, diabetes, and deafness, all of which improved with high-dose thiamine treatment. The patient also showed generalized puffiness, hoarseness, and severe cardiac and neurologic disturbances, which also dramatically responded to administration of thiamine in large doses.
The abnormalities in the thiamine-responsive anemia syndrome are consistent with the picture of thiamine-deficient beriberi in childhood (Burgess, 1958). Hyperglycemia has been observed in beriberi, and diabetic glucose-tolerance curves that revert to normal with thiamine replacement are described in rats with experimental thiamine deficiency. The anemia can be megaloblastic, sideroblastic or aplastic.
Abboud et al. (1985) reported 3 brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness. Two had also congenital septal defects of the heart. In 1 brother the activity of thiamine-dependent enzymes was measured, revealing low alpha-ketoglutarate dehydrogenase activity which might have been responsible for sideroblastic anemia with secondary megaloblastic changes. The anemia responded to thiamine but the diabetes did not.
Borgna-Pignatti et al. (1989) described 2 Italian children, related as first cousins, who developed megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. These authors characterized these children as having DIDMOAD syndrome (222300). In both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and increase in insulin requirements. However, a later study by Neufeld et al. (1997) determined that the patients reported by Borgna-Pignatti et al. (1989) in fact had thiamine-responsive megaloblastic anemia syndrome, with linkage to chromosome 1q.
Bazarbachi et al. (1998) found reports of 15 patients with the triad of thiamine-responsive anemia, diabetes mellitus, and deafness associated with macrocytic anemia and sometimes moderate thrombocytopenia. Bone marrow aspirates usually showed ringed sideroblasts in addition to the megaloblastic changes. They described 2 new patients who presented with diabetes, deafness, and thiamine-responsive pancytopenia. Bone marrow aspirate and biopsy were typical of trilineage myelodysplasia. The findings suggested that thiamine may have a role in the regulation of hemopoiesis at the stem cell level. They proposed the designation 'thiamine-responsive myelodysplasia' for this disorder.
Villa et al. (2000) reported the case of a 20-year-old girl with TRMA associated with diabetes mellitus and bilateral sensorineural deafness. Megaloblastic anemia was diagnosed at 7 months and was successfully treated with multiple vitamin preparations. Diabetes was diagnosed at age 2 years and was treated with insulin for 6 months at a dose of 0.5 IU/kg BW. The diagnosis of TRMA was clinically confirmed when bilateral sensorineural deafness was detected. Thereafter, thiamine treatment was started (50 mg/day), and insulin was discontinued because of frequent episodes of hypoglycemia. At age 17 years, because of secondary amenorrhea and echographic findings of small ovarian cysts, the patient was diagnosed as having polycystic ovary syndrome and was treated with estro-progestins (12 cycles/yr of ciproterone, ethinyl estradiol). One year later, at age 18 years, the patient developed motor seizures initially involving the left leg, then rapidly extending to the whole body, followed by unconsciousness. Brain MRI and angiography showed severely reduced blood flow in the right middle cerebral artery, with a large ischemic area in the corresponding territory, absence of flow in the distal internal carotid arteries, and slight compensatory hypertrophy of the basilar artery. X-ray digital arteriography confirmed MRI findings and showed narrowing of the left superficial femoral and popliteal arteries.
Bergmann et al. (2009) reported 8 patients from 7 families with genetically confirmed TRMA. The patients were of various ethnic origin, including Korean, Indian, Lebanese, Honduran, Italian, Caucasian, and Portuguese. All had megaloblastic anemia, often with ringed sideroblasts, diabetes mellitus, which was often insulin-dependent, and deafness. Onset of anemia occurred between 11 months and 11 years of age; onset of diabetes between ages 1.5 years and 11 years; and onset of deafness between ages 8 months and 6 years in 6 patients and at age 30 in 1 patient. One patient had normal hearing at age 15 years. Treatment with high-dose thiamine resulted in improvement in the anemia and, in some cases, amelioration of the diabetes phenotype.
Clinical Management
The patient of Poggi et al. (1984) no longer needed insulin after the start of thiamine treatment. Poggi et al. (1989) and Rindi et al. (1992) reported further studies of the proband, a 5-year-old girl at the time of diagnosis, and her affected brother. Rindi et al. (1992) reported that with daily administration of a lipophilic form of thiamine with enhanced bioavailability, the girl was 'still well controlled as far as anaemia and deafness are concerned. During the last 3 years, her diabetes has required insulin therapy.' The boy was well controlled as far as anemia, deafness, and diabetes were concerned, but had developed progressive optic atrophy during the previous 2 years. Rindi et al. (1992) concluded that the cells from TRMA patients contain low levels of thiamine compounds, probably due to their inability to take up and retain physiologic concentrations of thiamine.
Mapping
Neufeld et al. (1997, 1997) performed homozygosity mapping and linkage mapping in 4 large kindreds of native Alaskan and Italian origin with TRMA. Strong evidence for linkage was found to a single marker on 1q23.2-q23.3; maximum lod = 3.7 for D1S1679. Sixteen markers spanning the region were examined in the Alaskan kindred, plus 2 additional consanguineous kindreds of Arab-Israeli origin. These results confirmed the putative disease gene interval, suggesting genetic homogeneity. Linkage analysis generated the highest combined lod score, 8.1 at theta = 0.0, with marker D1S2779. The Italian and Alaskan patients shared no haplotypes with each other nor with the Arab-Israeli families, suggesting that the disease arose independently on 3 different genetic backgrounds. Several heterozygous parents had diabetes mellitus, deafness, or megaloblastic anemia, raising the possibility that mutations at this locus predispose carriers to these manifestations.
Based on genetic recombination, homozygosity mapping, and linkage disequilibrium (highest lod score of 12.5 at D1S2799, at a recombination fraction of 0), Raz et al. (1998) further narrowed the TRMA interval to 4 cM. They analyzed an additional 7 families of diverse ethnic origin and confirmed homogeneity of the disease.
Banikazemi et al. (1999) narrowed the location of the TRMA locus to a 1.4-cM interval on 1q23.3. Using a P1-derived artificial chromosome (PAC) contig spanning the TRMA candidate region, Labay et al. (1999) clarified the order of genetic markers across the TRMA locus, provided 9 new polymorphic markers, and narrowed the locus to an approximately 400-kb region.
Molecular Genetics
By positional cloning, Labay et al. (1999) identified the SLC19A2 gene, which they called THTR1, within the critical TRMA locus region. In all affected members of 6 families segregating TRMA, they identified homozygous mutations in the SLC19A2 gene, which encodes a putative transmembrane protein homologous to the reduced folate carrier proteins. Labay et al. (1999) suggested that a defective thiamine transporter protein underlies the TRMA syndrome. They noted that studies by Rindi et al. (1994) and by Stagg et al. (1999) had suggested that deficiency in a high-affinity thiamine transporter may cause this disorder.
Scharfe et al. (2000) reported a girl with a trp358-to-ter mutation (603941.0009) in the SLC19A2 gene. In addition to TRMA, the girl had short stature, hepatosplenomegaly, retinal degeneration, and a brain MRI lesion. Biochemical analyses of muscle and skin biopsies revealed a severe deficiency of pyruvate dehydrogenase and complex I of the respiratory chain. These biochemical abnormalities responded to thiamine supplementation.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature (in some patients) HEAD & NECK Ears \- Sensorineural deafness Eyes \- Optic atrophy (in some patients) \- Maculopathy (uncommon) \- Cone-rod dystrophy (uncommon) \- Retinal degeneration (in some patients) \- Visual loss (in some patients) \- Nystagmus (in some patients) CARDIOVASCULAR Heart \- Congenital heart defects (in some patients) \- Atrial septal defect (uncommon) \- Ventricular septal defect (in some patients) \- Conduction defects (in some patients) \- Arrhythmias (in some patients) \- Cardiomyopathy (uncommon) ABDOMEN \- Situs inversus (uncommon) Gastrointestinal \- Gastroesophageal reflux (uncommon) GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism (uncommon) NEUROLOGIC Central Nervous System \- Developmental delay (uncommon) \- Seizures (uncommon) \- Stroke (uncommon) \- Ataxia (uncommon) ENDOCRINE FEATURES \- Diabetes mellitus HEMATOLOGY \- Megaloblastic anemia \- Sideroblastic anemia \- Thrombocytopenia LABORATORY ABNORMALITIES \- Serum thiamine is normal MISCELLANEOUS \- Onset in early childhood (infancy to 6 years) \- Classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad \- Variable severity of phenotype and other features may be present \- Later onset associated with milder severity has been reported \- Anemia, diabetes, and deafness often show onset at different ages \- Diabetes and anemia respond to high doses of thiamine supplementation MOLECULAR BASIS \- Caused by mutation in the solute carrier family 19 (thiamine transporter), member 2 gene (SLC19A2, 603941.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | c0342287 | 28,742 | omim | https://www.omim.org/entry/249270 | 2019-09-22T16:25:30 | {"doid": ["0090117"], "mesh": ["C536510"], "omim": ["249270"], "orphanet": ["49827"], "synonyms": ["Alternative titles", "THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)", "MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS", "ROGERS SYNDROME", "THIAMINE-RESPONSIVE ANEMIA SYNDROME", "THIAMINE-RESPONSIVE MYELODYSPLASIA"], "genereviews": ["NBK1282"]} |
The Ewing family of tumors is a group of cancers[1] that includes Ewing tumor of bone (ETB or Ewing sarcoma of bone), extraosseous Ewing tumors (EOE tumors), primitive neuroectodermal tumors (PNET or peripheral neuroepithelioma), and Askin tumors (PNET of the chest wall). Also called EFTs.
## References[edit]
1. ^ Iwamoto Y (February 2007). "Diagnosis and treatment of Ewing's sarcoma". Jpn. J. Clin. Oncol. 37 (2): 79–89. doi:10.1093/jjco/hyl142. PMID 17272319.
## External links[edit]
* Cancer.Net: Ewing Family of Tumors, Childhood
* Ewing family of tumors entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
* v
* t
* e
Tumours of bone and cartilage
Diaphysis
* Multiple myeloma
* Epithelia
* Adamantinoma
* Primitive neuroectodermal tumor
* Ewing family
* Ewing's sarcoma
Metaphysis
Osteoblast
* Osteoid osteoma
* Osteoblastoma
* Osteoma/osteosarcoma
Chondroblast
* Chondroma/ecchondroma/enchondroma
* Enchondromatosis
* Extraskeletal chondroma
* Chondrosarcoma
* Mesenchymal chondrosarcoma
* Myxoid chondrosarcoma
* Osteochondroma
* Osteochondromatosis
* Chondromyxoid fibroma
Fibrous
* Ossifying fibroma
* Fibrosarcoma
Epiphysis
Chondroblast
* Chondroblastoma
Myeloid
* Giant-cell tumor of bone
Other
Notochord
* Chordoma
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ewing family of tumors | c3536893 | 28,743 | wikipedia | https://en.wikipedia.org/wiki/Ewing_family_of_tumors | 2021-01-18T18:46:30 | {"gard": ["9323"], "wikidata": ["Q5419064"]} |
Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome.
Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sertoli cell-only syndrome | c1384583 | 28,744 | gard | https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome | 2021-01-18T17:57:46 | {"mesh": ["D054331"], "omim": ["305700"], "umls": ["C1384583"], "synonyms": ["Germinal cell aplasia", "Del Castillo syndrome"]} |
Glycogen storage disease type III
Other namesCori Disease, Debrancher Deficiency, Forbes Disease, GSD III[1]
Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
SpecialtyEndocrinology
SymptomsHypotonia[2]
CausesAGL gene mutation[3]
Diagnostic methodBiopsy, Elevated transaminases[4]
TreatmentCurrently no cure, Diet regime[4]
Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes.[3]
It is also known as Cori's disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915–2003), an American physician who further described the features of the disorder, or limit dextrinosis, due to the limit dextrin-like structures in cytosol.[2] Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.[5]
Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart.[medical citation needed]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 3.1 Differential diagnosis
* 3.2 Classification
* 4 Treatment
* 5 References
* 6 Further reading
* 7 External links
## Signs and symptoms[edit]
Glycogen storage disease type III presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later. The liver pathology typically regresses as the individual enter adolescence, as does splenomegaly, should the individual so develop it.[2]
## Genetics[edit]
GSD III is AR
In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births. The highest incidence of glycogen storage disease type III is in the Faroe Islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect.[citation needed] There seem to be two mutations in exon 3 (c.17_18delAG) being one of them, which are linked to the subtype IIIb.[1][6]
The amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene and mutations to it, are at the root of this condition. The gene is responsible for creating glycogen debranching enzyme, which in turn helps in glycogen decomposition.[3][7]
## Diagnosis[edit]
In terms of the diagnosis for glycogen storage disease type III, the following tests/exams are carried out to determine if the individual has the condition:[8][9]
* Biopsy (muscle or liver)
* CBC
* Ultrasound
* DNA mutation analysis (helps ascertain GSD III subtype)
### Differential diagnosis[edit]
The differential diagnosis of glycogen storage disease type III includes GSD I, GSD IX and GSD VI. This however does not mean other glycogen storage diseases should not be distinguished as well.[1]
### Classification[edit]
Clinical manifestations of glycogen storage disease type III are divided into four classes:[3]
* GSD IIIa, is the most common, (along with GSD IIIb) and which clinically includes muscle and liver involvement
* GSD IIIb, which clinically has liver involvement but no muscle involvement
* GSD IIIc which clinically affects liver and muscle.
* GSD IV affects liver only (not muscle)
## Treatment[edit]
Glucose
Treatment for glycogen storage disease type III may involve a high-protein diet, in order to facilitate gluconeogenesis. Additionally the individual may need:[2][1][9]
* IV glucose (if oral route is inadvisable)
* Nutritional specialist
* Vitamin D (for osteoporosis/secondary complication)
* Hepatic transplant (if complication occurs)
## References[edit]
1. ^ a b c d Dagli, Aditi; Sentner, Christiaan P.; Weinstein, David A. (1 January 1993). "Glycogen Storage Disease Type III". GeneReviews. PMID 20301788. Retrieved 11 August 2016.update 2012
2. ^ a b c d "Genetics of Glycogen-Storage Disease Type III Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2016-08-11.
3. ^ a b c d Reference, Genetics Home. "glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07.
4. ^ a b "Glycogen storage disease type 3 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2 January 2018.
5. ^ J. G. Salway (2012). Medical Biochemistry at a Glance. John Wiley & Sons. p. 60. ISBN 9780470654514.
6. ^ "OMIM Entry - # 232400 - Glycogen Storage Disease III; GSD3". www.omim.org. Retrieved 2016-08-11.
7. ^ Reference, Genetics Home. "AGL". Genetics Home Reference. Retrieved 2016-08-11.
8. ^ "Glycogen Storage Disorders. Inborn errors of metabolism | Patient". Patient. Retrieved 2016-08-11.
9. ^ a b Kishnani, Priya S.; Austin, Stephanie L.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Case, Laura E.; Chung, Wendy K.; Desai, Dev M.; El-Gharbawy, Areeg; Haller, Ronald; Smit, G. Peter A.; Smith, Alastair D.; Hobson-Webb, Lisa D.; Wechsler, Stephanie Burns; Weinstein, David A.; Watson, Michael S. (1 July 2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600. PMID 20631546.
## Further reading[edit]
* Mayorandan, Sebene; Meyer, Uta; Hartmann, Hans; Das, Anibh Martin (1 January 2014). "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi:10.1186/s13023-014-0196-3. ISSN 1750-1172. PMC 4302571. PMID 25431232.
* Sentner, Christiaan P.; Hoogeveen, Irene J.; Weinstein, David A.; Santer, René; Murphy, Elaine; McKiernan, Patrick J.; Steuerwald, Ulrike; Beauchamp, Nicholas J.; Taybert, Joanna; Laforêt, Pascal; Petit, François M.; Hubert, Aurélie; Labrune, Philippe; Smit, G. Peter A.; Derks, Terry G. J. (22 April 2016). "Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome". Journal of Inherited Metabolic Disease. 39 (5): 697–704. doi:10.1007/s10545-016-9932-2. ISSN 0141-8955. PMC 4987401. PMID 27106217.
## External links[edit]
Scholia has a topic profile for Glycogen storage disease type III.
* Media related to Glycogen storage disease type III at Wikimedia Commons
Classification
D
* ICD-10: E74.0
* ICD-9-CM: 271.0
* OMIM: 232400 610860
* MeSH: D006010
* DiseasesDB: 5302
External resources
* eMedicine: med/909 ped/479
* GeneReviews: Glycogen Storage Disease Type III
* v
* t
* e
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Disaccharide catabolism
* Congenital alactasia
* Sucrose intolerance
Monosaccharide transport
* Glucose-galactose malabsorption
* Inborn errors of renal tubular transport (Renal glycosuria)
* Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism
Fructose:
* Essential fructosuria
* Fructose intolerance
Galactose / galactosemia:
* GALK deficiency
* GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis
* GSD type 0 (glycogen synthase deficiency)
* GSD type IV (Andersen's disease, branching enzyme deficiency)
* Adult polyglucosan body disease (APBD)
Glycogenolysis
Extralysosomal:
* GSD type III (Cori's disease, debranching enzyme deficiency)
* GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
* GSD type V (McArdle's disease, myophosphorylase deficiency)
* GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
* GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
* MODY 2/HHF3
* GSD type VII (Tarui's disease, phosphofructokinase deficiency)
* Triosephosphate isomerase deficiency
* Pyruvate kinase deficiency
Gluconeogenesis
* PCD
* Fructose bisphosphatase deficiency
* GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)
Pentose phosphate pathway
* Glucose-6-phosphate dehydrogenase deficiency
* Transaldolase deficiency
* 6-phosphogluconate dehydrogenase deficiency
Other
* Hyperoxaluria
* Primary hyperoxaluria
* Pentosuria
* Aldolase A deficiency
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Glycogen storage disease type III | c0017922 | 28,745 | wikipedia | https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_III | 2021-01-18T19:10:18 | {"gard": ["9442"], "mesh": ["D006010"], "umls": ["C0017922"], "icd-9": ["271.0"], "wikidata": ["Q494922"]} |
A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.
## Epidemiology
Hypoplastic left heart syndrome (HLHS) has been reported to occur in 1/3,500 to 12,500 live births. A male to female predominance ratio of 1.5:1 is observed.
## Clinical description
Newborn infants with HLHS are generally born at full term. Initially appearing healthy, they are dependent upon the patent ductus arteriosus (PDA) for systemic blood flow. As the PDA closes, systemic perfusion decreases, resulting in hypoxemia, acidosis, and cardiogenic shock. Usually, no heart murmur (or a non-specific heart murmur) is detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The spectrum of cardiac malformations can be distinguished by the status of the mitral and aortic valves. At the severe end of the spectrum is the aortic and mitral valve atresia (AA/MA) subtype that is associated with an absent or a slit-like left ventricle and diminutive aortic arch. The two other subtypes, aortic atresia with mitral stenosis (AA/MS), and aortic and mitral stenosis (AS/MS) subtype, have variable ventricular hypoplasia with a discrete left ventricular cavity.
## Etiology
As is the case of most congenital cardiac defects, the embryologic cause of the disease is not fully known.
## Diagnostic methods
The most useful diagnostic modality is the echocardiogram. Findings on echocardiogram include hypoplasia or atresia of the left ventricle, mitral valve, aortic valve, and ascending aorta.
## Differential diagnosis
Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch).
## Antenatal diagnosis
Antenatal diagnosis is possible as the syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation.
## Management and treatment
Initially, ductal patency is maintained by continuous infusion of intravenous prostaglandin until surgery. Currently, there are two major surgical approaches: univentricular palliation or primary cardiac transplantation, the preference for selecting which option depending on the institutional experience and the availability of donor organs. Univentricular palliation is the most commonly used approach and involves a series of staged cardiac surgical procedures over a period of 2 years that ultimately result in separation of the systemic venous and arterial circulation. Stage I is typically performed in the first week of life, or when the neonate is stable, and techniques may include the Norwood procedure, the Sano modification or the hybrid procedure. Stage II is performed between 3 and 6 months of age and involves the bi-directional Glenn procedure. Stage III, the Fontan procedure, is performed between 2 and 5 years of age. In certain expert centers, fetal transcatheter intervention may be an option. Given the improvement in surgical outcomes, opting for comfort management only remains controversial.
## Prognosis
If left untreated, HLHS is universally fatal within a few days- weeks of life. Whilst surgical intervention supports survival through infancy and into early adulthood, the 5-year survival rate is approximately 65%. However, the significant mortality and morbidity associated with both surgical strategies merits discussions with the families regarding the initial decision relative to the treatment and long-term prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypoplastic left heart syndrome | c0152101 | 28,746 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2248 | 2021-01-23T17:36:38 | {"gard": ["6739"], "mesh": ["D018636"], "omim": ["241550", "614435"], "umls": ["C0152101"], "icd-10": ["Q23.4"], "synonyms": ["HLHS"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (October 2014) (Learn how and when to remove this template message)
Persistent tunica vasculosa lentis
Anatomy human eye(vitreous humour)
SpecialtyOphthalmology
Persistent tunica vasculosa lentis is a congenital ocular anomaly. It is a form of persistent hyperplastic primary vitreous (PHPV).
It is a developmental disorder of the vitreous. It is usually unilateral and first noticed in the neonatal period. It may be associated with microphthalmos, cataracts, and increased intraocular pressure. Elongated ciliary processes are visible through the dilated pupil. A USG B-scan confirms diagnosis in the presence of a cataract.
## See also[edit]
* Persistent fetal vasculature
* Tunica vasculosa lentis
## References[edit]
* http://www.djo.harvard.edu/files/1568.pdf
* Wright KW, Speigel PH, Buckley EG. Pediatric Ophthalmology and Strabismus. Springer; US, New York: 2003. p. 17.
This article about an ophthalmic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Persistent tunica vasculosa lentis | c0266543 | 28,747 | wikipedia | https://en.wikipedia.org/wiki/Persistent_tunica_vasculosa_lentis | 2021-01-18T18:54:03 | {"umls": ["C0266543"], "wikidata": ["Q7170425"]} |
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Oculootodental syndrome | c2750325 | 28,748 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99806 | 2021-01-23T18:22:15 | {"mesh": ["C563482"], "omim": ["166750"], "umls": ["C2750325"], "icd-10": ["K07.8"], "synonyms": ["OOD"]} |
A number sign (#) is used with this entry because of evidence that polymorphisms in the COL1A1 gene (120150.0051), the calcitonin receptor gene (CALCR; 114131), and the RIL gene (603422) are associated with osteoporosis. There is evidence that a polymorphism in the ITGB3 gene (173470) is associated with hip fracture.
See BMND1 (601884) for a list of bone mineral density (BMD) quantitative trait loci, some of which have been associated with susceptibility to osteoporosis. Association has been suggested between variation in the ESR1 gene (133430) and BMD.
Clinical Features
Using dual-photon absorptiometry, Seeman et al. (1989) demonstrated reduced bone mass in the lumbar spine and perhaps in the femoral neck of premenopausal daughters of postmenopausal women with osteoporotic compression fractures. The findings suggested that genetic factors, expressed as low peak bone mass, may have a role in the development of postmenopausal osteoporosis. Pocock et al. (1987) found in a twin study that the heritability of bone mass was approximately 90% in the lumbar spine and 70% in the femoral neck. Defects in type I collagen of the sort that may lead to osteogenesis imperfecta may produce a picture suggesting idiopathic osteoporosis (see 120150.0038). In studies of vertebral bone density (VBD) in 63 premenopausal women, aged 19 to 40 years, Armamento-Villareal et al. (1992) found a higher proportion of subjects with irregular menses (52% vs 23%, p = 0.03) and a positive family history of osteoporosis (86% vs 61%, p = 0.04) among subjects with low VBD when compared to subjects with normal bone density. They concluded that premenopausal estrogen exposure and possibly genetic predisposition, rather than environmental factors, are the major determinants of peak bone mass before menopause. Seeman et al. (1994) found that the daughters of women with hip fractures show reduced bone density, suggesting that low peak bone density is a leading factor in hip fracture.
Mapping
### Bone Mineral Density QTLs
Styrkarsdottir et al. (2008) performed a quantitative trait analysis of data from 5,861 Icelandic subjects, testing for an association between 301,019 single-nucleotide polymorphisms (SNPs) and bone mineral density of the hip or lumbar spine. The authors then tested for an association between 74 SNPs (most of which were implicated in the discovery set) at 32 loci in replication sets of Icelandic, Danish, and Australian subjects (4165, 2269, and 1491 subjects, respectively). Sequence variants in 5 genomic regions were significantly associated with bone mineral density in the discovery set and were confirmed in the replication sets (combined P values, 1.2 x 10(-7) to 2.0 x 10(-21)). Three regions are close to or within genes previously shown to be important to the biologic characteristics of bone: the receptor activator of nuclear factor-kappa-beta ligand gene (RANKL; 602642) on chromosome 13q14 (BMND9; 612110), the osteoprotegerin gene (OPG; 602643) on chromosome 8q24 (BMND10; 612113), and the estrogen receptor-1 gene (ESR1; 133430) on chromosome 6q25 (BMND11; 612114). The 2 other regions are close to the zinc finger- and BTB domain-containing protein-40 gene (ZBTB40; 612106), located at chromosome 1p36 and previously implicated as a region associated with bone mineral density (BMND3; 606928), and the major histocompatibility complex region at chromosome 6p21. The 1p36, 8q24, and 6p21 loci were also associated with osteoporotic fractures, as were loci at 18q21, close to the receptor activator of the nuclear factor-kappa-beta gene (RANK; 603499), and loci at 2p16 and 11p11. Styrkarsdottir et al. (2008) concluded that they discovered common sequence variants that are consistently associated with bone mineral density and with low-trauma fractures in 3 populations of European descent. They noted that although these variants alone were not considered clinically useful in the prediction of risk to individual persons, they provide insight into the biochemical pathways underlying osteoporosis.
### Bone Mineral Density QTL Associations Pending Confirmation
Parsons et al. (2005) used a cross-species strategy to identify genes that regulate BMD. A BMD quantitative trait locus was identified on the mouse X chromosome for postmaturity change in spine BMD in a cross of SAMP6 and AKR/J mice. They genotyped 76 SNPs from the syntenic 10.7-Mb human region on chromosome Xp22 in 2 sets of DNA pools prepared from individuals with lumbar spine-BMD (LS-BMD) values falling into the top and bottom 13th percentiles of a population-based study of 3,100 postmenopausal women. They identified a region of significant association (p less than 0.001) for 2 adjacent SNPs, rs234494 and rs234495, in intron 6 of the PIR gene (300931). Individual genotyping for rs234494 in the BMD pools confirmed the presence of an association for alleles (p = 0.018) and genotypes (p = 0.008). Analysis of rs234494 and rs234495 in 1,053 women derived from the same population who were not selected for BMD values showed an association with LS-BMD for rs234495 (p = 0.01) and for haplotypes defined by both SNPs (p = 0.002).
Zheng et al. (2015) identified novel noncoding genetic variants with large effect on bone mineral density (n total = 53,236) and fracture (n total = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K, a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). Zheng et al. (2015) identified a low-frequency noncoding variant near EN1 (131290), with an effect size 4-fold larger than the mean of previously reported (Estrada et al., 2012) common variants for lumbar spine BMD (rs11692564T, MAF = 1.6%, replication effect size = +0.20 SD, p meta = 2 x 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; p = 2 x 10(-11); n cases = 98,742 and n controls = 409,511).
Molecular Genetics
Prockop (1998) reviewed the search for the genetic basis of osteoporosis. In a review of the genetics of osteoporosis, Giguere and Rousseau (2000) stated that twin studies had shown that genetic factors account for up to 80% of the variance in bone mineral density. They suggested that, considering that the effect of each candidate gene is expected to be modest, discrepancies among the several allelic association studies may have arisen because different populations carry different genetic backgrounds and exposure to environmental factors. They expected that the development of population-specific at-risk profiles for osteoporosis would include genetic and environmental factors, as well as their interactions.
In a review of progress in the elucidation of genetic control of susceptibility to osteoporosis, Ralston (2002) noted that BMD, ultrasound properties of bone, skeletal geometry, bone turnover, and pathogenesis of osteoporotic fracture are determined by the combined effects of several genes and environmental influences, but that occasionally osteoporosis or unusually high bone mass can occur as the result of mutations in a single gene. Examples are the osteoporosis-pseudoglioma syndrome (259770) and the high bone mass syndrome (601884), caused by inactivating and activating mutations, respectively, in the LRP5 gene (603506).
Huang and Kung (2006) reviewed the genes implicated in osteoporosis.
### Association with COL1A1
Grant et al. (1996) described a novel G-to-T polymorphism in a regulatory region of the COL1A1 gene (rs1800012; 120150.0051). They found that the polymorphism was significantly related to bone mass and osteoporotic fracture. G/T heterozygotes at the polymorphic Sp1 site (Ss) had significantly lower bone mineral density (BMD) than G/G homozygotes (SS) in 2 populations of British women, 1 from Aberdeen and 1 from London, and BMD was lower still in T/T homozygotes (ss). The unfavorable Ss and ss genotypes were overrepresented in patients with severe osteoporosis and vertebral fractures (54%), as compared with controls (27%), equivalent to a relative risk of 2.97 (95% confidence interval 1.63-9.56) for vertebral fracture in individuals who carried the 's' allele. While the mechanisms that underlie this association remained to be defined, the COL1A1 Sp1 polymorphism appeared to be an important marker for low bone mass and vertebral fracture, raising the possibility that genotyping at this site may be of value in identifying women who are at risk of osteoporosis. The findings of Grant et al. (1996) were confirmed and extended by Uitterlinden et al. (1998).
Idiopathic osteoporosis indistinguishable from involutional or postmenopausal osteoporosis beginning at an unusually early age has been described in families on the basis of specific mutations in the COL1A1 gene (120150.0038) on chromosome 17q and the COL1A2 gene (120160.0030) on chromosome 7q.
Jin et al. (2009) showed that the previously reported 5-prime untranslated region (UTR) SNPs in the COL1A1 gene (-1997G-T, rs1107946, 120150.0067; -1663indelT, rs2412298, 120150.0068; +1245G-T, rs1800012) affected COL1A1 transcription. Transcription was 2-fold higher with the osteoporosis-associated G-del-T haplotype compared with the common G-ins-G haplotype. The region surrounding rs2412298 recognized a complex of proteins essential for osteoblast differentiation and function including NMP4 (ZNF384; 609951) and Osterix (SP7; 606633), and the osteoporosis-associated -1663delT allele had increased binding affinity for this complex. Further studies showed that haplotype G-del-T had higher binding affinity for RNA polymerase II, consistent with increased transcription of the G-del-T allele, and there was a significant inverse association between carriage of G-del-T and bone mineral density (BMD) in a cohort of 3,270 Caucasian women. Jin et al. (2009) concluded that common polymorphic variants in the 5-prime UTR of COL1A1 regulate transcription by affecting DNA-protein interactions, and that increased levels of transcription correlated with reduced BMD values in vivo by altering the normal 2:1 ratio between alpha-1(I) and alpha-2(I) chains.
### Association with ESR1
BMD, the major determinant of osteoporotic fracture risk, has a strong genetic component. The discovery that inactivation of the ESR1 gene (133430) is associated with low BMD indicated ESR1 as a candidate gene for osteoporosis. Becherini et al. (2000) genotyped 610 postmenopausal women for 3 ESR1 gene polymorphisms (intron 1 RFLPs PvuII and XbaI, and a (TA)n repeat 5-prime upstream of exon 1). Although no significant relationship between intron 1 RFLPs and BMD was observed, a statistically significant correlation between (TA)n-repeat allelic variants and lumbar BMD was observed (P = 0.04, ANCOVA), with subjects having a low number of repeats (TA less than 15) showing the lowest BMD values. The authors observed a statistically significant difference in the mean +/- SD number of (TA)n repeats between 73 analyzed women with a vertebral fracture and the nonfracture group, equivalent to a 2.9-fold increased fracture risk in women with a low number of repeats. Becherini et al. (2000) concluded that in their large sample the (TA)n polymorphism in ESR1 accounts for part of the heritable component of BMD and may prove useful in the prediction of vertebral fracture risk in postmenopausal osteoporosis.
See 601769 for a discussion of contradictory findings concerning a relationship between bone mineral density and polymorphism of the vitamin D receptor.
Colin et al. (2003) studied the combined influence of polymorphisms in the ESR1 and the VDR (601769) genes on the susceptibility to osteoporotic vertebral fractures in 634 women aged 55 years and older. Three VDR haplotypes (1, 2, and 3) of the BsmI, ApaI, and TaqI restriction fragment length polymorphisms and 3 ESR1 haplotypes (1, 2, and 3) of the PvuII and XbaI restriction fragment length polymorphisms were identified. ESR1 haplotype 1 was dose-dependently associated with increased vertebral fracture risk corresponding to an odds ratio of 1.9 (95% confidence interval, 0.9-4.1) per copy of the risk allele. VDR haplotype 1 was overrepresented in vertebral fracture cases. There was a significant interaction (p = 0.01) between ESR1 haplotype 1 and VDR haplotype 1 in determining vertebral fracture risk. The association of ESR1 haplotype 1 with vertebral fracture risk was present only in homozygous carriers of VDR haplotype 1. The risk of fracture was 2.5 for heterozygous and 10.3 for homozygous carriers of ESR1 haplotype 1. These associations were independent of bone mineral density. The authors concluded that interaction between ESR1 and VDR gene polymorphisms leads to increased risk of osteoporotic vertebral fractures in women, largely independent of bone mineral density.
In a study of femoral neck bone loss in 945 postmenopausal Scottish women who had not received hormone replacement therapy, Albagha et al. (2005) found that the ESR1 px haplotype was associated with reduced femoral neck BMD and increased rates of femoral neck bone loss.
### Association with IL6
Linkage studies have suggested that variation in the interleukin-6 (IL6; 147620) gene is associated with BMD and osteoporosis.
### Association with RIL
Association studies by Omasu et al. (2003) suggested a relationship between susceptibility to osteoporosis and genetic variation in the 5-prime flanking region of the RIL gene (603422.0001).
### Association with ITGB3
Tofteng et al. (2007) analyzed the L33P polymorphism in the ITGB3 gene (173470.0006) in 9,233 randomly selected Danish individuals, of whom 267 had a hip fracture during a 25-year follow-up period. Individuals homozygous for L33P had a 2-fold greater risk of hip fracture compared to noncarriers (p = 0.02), with risk confined primarily to postmenopausal women, in whom the hazard ratio was 2.6 after adjustment for age at menopause and use of hormone replacement therapy.
Clinical Management
Kyriakidou-Himonas et al. (1999) noted that black women have lower levels of serum 25-hydroxyvitamin D (25OHD) with higher serum parathyroid hormone (PTH; 168450) levels than white women. They hypothesized that correction of these alterations in the vitamin D-endocrine system could lead to less bone loss in postmenopausal women and, consequently, preservation of bone mass. They gave 10 healthy postmenopausal black women 20 microg vitamin D3 daily for 3 months. At the end of the study, mean serum 25OHD levels had increased from 24 to 63 nmol/L. Serum intact PTH and nephrogenous cAMP declined significantly, and there was a 21% drop in the fasting urinary N-telopeptide of type I collagen. The authors concluded that vitamin D3 supplementation raises serum 25OHD levels in postmenopausal black women, decreases secondary hyperparathyroidism, and reduces bone turnover.
Greenspan et al. (2000) investigated whether early changes in serum markers of bone resorption could predict long-term responses in BMD after alendronate therapy in elderly women. One hundred and twenty women (mean age, 70 years) were randomized to alendronate or placebo in a double-blind, placebo-controlled clinical trial for 2.5 years. Outcome measures were hip and spine BMD and biochemical markers of bone resorption, including serum N-telopeptide and C-telopeptide cross-linked collagen type I (NTx and CTx, respectively). Serum NTx and CTx were highly correlated at baseline and remained so throughout the study. After treatment with alendronate, serum NTx decreased 30.4 +/- 16.0% at 6 months, reaching a nadir of -36.7 +/- 18.0% by 24 months. Serum CTx decreased 43.5 +/- 67.0% at 6 months and continued to decrease to 67.3 +/- 19.3% at 2.5 years. Moreover, decreases in serum NTx and CTx at 6 months were correlated with long-term improvements in vertebral BMD at 2.5 years in patients receiving alendronate therapy. The authors concluded that early changes in serum NTx and CTx, markers of bone resorption, predict long-term changes in vertebral BMD in elderly women receiving alendronate therapy and provide a useful tool to assess skeletal health.
Harris et al. (2001) reported a 1-year, double-blind, placebo-controlled study in which 524 postmenopausal women received daily treatment with conjugated equine estrogens (0.625 mg) alone or in combination with risedronate (5 mg). Women who had not undergone hysterectomy received medroxyprogesterone acetate (up to 5 mg, daily or cyclically) at the discretion of the investigator. The primary efficacy end point was the percent change from baseline in mean lumbar spine bone mineral density (BMD) at 1 year. Changes in BMD at the proximal femur and forearm, bone turnover markers, and histology and histomorphometry were also assessed. At 12 months, significant (p less than 0.05) increases from baseline in lumbar spine BMD were observed in both treatment groups (HRT-only, 4.6%; combined risedronate-HRT, 5.2%); the difference between the 2 groups was not statistically significant. Both therapies led to significant increases in BMD at 12 months at the femoral neck (1.8% and 2.7%, respectively), femoral trochanter (3.2% and 3.7%), distal radius (1.7% and 1.6%), and midshaft radius (0.4% and 0.7%). The differences between groups were statistically significant (p less than 0.05) at the femoral neck and midshaft radius. The authors concluded that combined treatment with risedronate and HRT had a favorable effect on BMD, similar to that of HRT alone at the lumbar spine and slightly but significantly greater than that of HRT alone at the femoral neck and midshaft radius. The combined treatment was well tolerated and there were no adverse effects on the skeleton.
Ringe et al. (2001) reported the results of a therapeutic trial in men with osteoporosis. This prospective, open-label, active-controlled, randomized clinical study compared the effects of oral alendronate (10 mg daily) and alfacalcidol (1 microg daily) on bone mineral density, safety, and tolerability in 134 males with primary established osteoporosis. All men received supplemental calcium (500 mg daily). After 2 years, alfacalcidol-treated patients showed a mean 2.8% increase in lumbar spine BMD (p less than 0.01) compared with a mean increase of 10.1% in men receiving alendronate (p less than 0.001). The incidence rates of patients with new vertebral fractures were 18.2% and 7.4% for the alfacalcidol and alendronate groups, respectively (p = 0.071). Both therapies were well tolerated. The authors concluded that alendronate may be superior to alfacalcidol in the treatment of men with established primary osteoporosis.
Data obtained by Drake et al. (2003) suggested that among men with osteoporosis it is not possible to identify patients who would be particularly good candidates for therapy with alendronate on the basis of biochemical or hormonal markers. The authors concluded that alendronate therapy appears to benefit osteoporotic males equally, irrespective of baseline serum testosterone, estradiol, IGF1 (147440), or markers of bone turnover.
Both raloxifene (RLX) and alendronate (ALN) can treat and prevent new vertebral fractures, increase BMD, and decrease biochemical markers of bone turnover in postmenopausal women with osteoporosis. Johnell et al. (2002) assessed the effects of combined RLX and ALN in 331 postmenopausal women with osteoporosis. Women received placebo, RLX 60 mg per day, ALN 10 mg per day, or RLX 60 mg per day and ALN 10 mg per day combined (RLX+ALN). At baseline, 6 months, and 12 months, BMD was measured by dual x-ray absorptiometry. The bone turnover markers serum osteocalcin (112260), bone-specific alkaline phosphatase (see 171760), and urinary N- and C-telopeptide corrected for creatinine were measured. All changes in BMD and bone markers at 12 months were different between placebo and each of the active treatment groups and between the RLX and RLX+ALN groups (p less than 0.05). On average, lumbar spine BMD increased by 2.1%, 4.3%, and 5.3% from baseline with RLX, ALN, and RLX+ALN, respectively. The increase in femoral neck BMD in the RLX+ALN group (3.7%) was greater than the 2.7% and 1.7% increases in the ALN (p = 0.02) and RLX (p less than 0.001) groups, respectively. The authors concluded that RLX+ALN reduced bone turnover more than either drug alone, resulting in greater BMD increment, but they did not assess whether this difference reflected better fracture risk reduction.
Hodsman et al. (2003) investigated the efficacy and safety of human parathyroid hormone-(1-84) (full-length PTH; 168450) in the treatment of postmenopausal osteoporosis. PTH treatment induced time- and dose-related increases in lumbar spine BMD. The 100-microgram dose increased BMD significantly at 3 and 12 months. BMD underestimated the anabolic effect of PTH in lumbar spine (bone mineral content, +10.0%) because bone area increased significantly (+2.0%). Dose-related incidences of transient hypercalcemia occurred, but only 1 patient was withdrawn because of repeated hypercalcemia. The authors concluded that full-length PTH was efficacious and safe over 12 months.
The most rapid period of skeletal development occurs over several years in childhood and adolescence, accounting for 40 to 50% of the total accrual of skeletal mass. Maximizing peak bone mass during the first few decades of life is a potentially major strategy in osteoporosis prevention. Cameron et al. (2004) presented the results of a randomized, single-blind, placebo-controlled trial of 51 pairs of premenarcheal female twins (27 monozygotic and 24 dizygotic) in which 1 twin of each pair received a 1,200-mg calcium carbonate supplement. They observed that calcium supplementation increased areal bone mineral density at regional sites over the first 12 to 18 months, but these gains were not maintained to 24 months.
Animal Model
Idris et al. (2005) demonstrated that cannabinoid receptor-1 (CNR1; 114610)-null mice had increased bone mass and were protected from ovariectomy-induced bone loss. Pharmacologic antagonists of CNR1 and CNR2 receptors prevented ovariectomy-induced bone loss in vivo and caused osteoclast inhibition in vitro by promoting osteoclast apoptosis and inhibiting production of several osteoclast survival factors. Idris et al. (2005) concluded that the CNR1 receptor has a role in the regulation of bone mass and ovariectomy-induced bone loss.
Skel \- Postmenopausal osteoporosis Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| OSTEOPOROSIS | c2674640 | 28,749 | omim | https://www.omim.org/entry/166710 | 2019-09-22T16:36:51 | {"doid": ["11476"], "omim": ["166710"], "icd-9": ["733.0", "733.00"], "icd-10": ["M81.0"], "synonyms": ["Alternative titles", "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS", "OSTEOPOROSIS, POSTMENOPAUSAL", "OSTEOPOROSIS, INVOLUTIONAL"]} |
Cerebral atherosclerosis
Cerebral Angiogram obtained using an iodine based contrast medium
SpecialtyCardiology
Cerebral atherosclerosis is a type of atherosclerosis where build-up of plaque in the blood vessels of the brain occurs. Some of the main components of the plaques are connective tissue, extracellular matrix, including collagen, proteoglycans, fibronectin, and elastic fibers; crystalline cholesterol, cholesteryl esters, and phospholipids; cells such as monocyte derived macrophages, T-lymphocytes, and smooth muscle cells.[1] The plaque that builds up can lead to further complications such as stroke, as the plaque disrupts blood flow within the intracranial arterioles. This causes the downstream sections of the brain that would normally be supplied by the blocked artery to suffer from ischemia.[2] Diagnosis of the disease is normally done through imaging technology such as angiograms or magnetic resonance imaging. The risk of cerebral atherosclerosis and its associated diseases appears to increase with increasing age;[3] however there are numerous factors that can be controlled in attempt to lessen risk.[4]
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 Related diseases
* 4 References
## Diagnosis[edit]
Diagnostic methods include:
Angiogram
Due to positive remodeling the plaque build-up shown on angiogram may appear further downstream on the x-ray where the luminal diameter would look normal even though there is severe narrowing at the real site. Because angiograms require x-rays to be visualized the number of times an individual can have it done over a year is limited by the guidelines for the amount of radiation they can be exposed to in a one-year period.[2]
Angio MRI of supra-aortic vessels after the injection of 20cc of gadolinium for contrast
Magnetic resonance imaging (MRI)
Magnetic resonance imaging has the ability to quantify the plaque anatomy and composition. This allows physicians to determine certain characteristics of the plaque such as how likely it is to break away from the wall and become an embolus. MRI does not use ionizing radiation, so the number of times that it is used on a single person is not a concern; however since it uses strong electric fields those who have metal implants in cannot use this technique.[1][2]
Computed tomography (CT)
Multidirectional computed tomography (MDCT) is better than regular CT scans, because it can provide a higher spatial resolution and it has a shorter acquisition time. MDCT uses x-rays to obtain the image; however it can identify the composition of the plaque. Thus it can be determined whether the plaque is calcified plaque and lipid-rich plaque, so the inherent risks can be determined. Subjects are exposed to a substantial amount of radiation with this procedure, so their use is limited.[2]
## Treatment[edit]
The examples and perspective in this article may not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (November 2013) (Learn how and when to remove this template message)
Asymptomatic individuals with intracranial stenosis are typically told to take over the counter platelet inhibitors like aspirin whereas those with symptomatic presentation are prescribed anti-coagulation medications.[2] For asymptomatic persons the idea is to stop the buildup of plaque from continuing. They are not experiencing symptoms; however if more build up occurs it is likely they will. For symptomatic individuals it is necessary to try and reduce the amount of stenosis. The anti-coagulation medications reduce the likelihood of further buildup while also trying to break down the current build up on the surface without an embolism forming. For those with severe stenosis that are at risk for impending stroke endovascular treatment is used. Depending on the individual and the location of the stenosis there are multiple treatments that can be undertaken. These include angioplasty, stent insertion, or bypass the blocked area.[2]
## Related diseases[edit]
Diseases associated with cerebral atherosclerosis include:
Hypertensive arteriopathy
This pathological process involves the thickening and damage of arteriole walls. It mainly affects the ends of the arterioles which are located in the deep gray nuclei and deep white matter of the brain. It is thought that this is what causes cerebral microbleeds in deep brain regions. This small vessel damage can also reduce the clearance of amyloid-β, thereby increasing the likelihood of CAA.[5]
Diseases cerebral atherosclerosis and associated diseases can cause are:
Alzheimer's disease
Alzheimer's disease is a form of dementia that entails brain atrophy. Cerebral amyloid angiopathy is found in 90% of the cases at autopsy, with 25% being severe CAA.[5]
Cerebral microbleeds (CMB)
Cerebral microbleeds have been observed during recent studies on dementia sufferers using MRI.[6]
Stroke
Strokes occur from the sudden loss of blood flow to an area of the brain. The loss of flow is generally either from a blockage or hemorrhage. Studies of postmortem stroke cases have shown that intracranial athreosclerotic plaque build up occurred in over half of the individuals and over one third of the overall cases had stenotic build up.[2]
## References[edit]
1. ^ a b Corti R, Fuster V (2011). "Imaging of atherosclerosis: magnetic resonance imaging". European Heart Journal (Review). 32 (14): 1709-U149. doi:10.1093/eurheartj/ehr068. PMID 21508002.
2. ^ a b c d e f g Degnan AJ, Gallagher G, Teng Z, Lu J, Liu Q, Gillard JH (September 2012). "MR angiography and imaging for the evaluation of middle cerebral artery atherosclerotic disease". American Journal of Neuroradiology (Review). 33 (8): 1427–1435. doi:10.3174/ajnr.A2697. PMID 21940802.
3. ^ Korczyn AD (2005). "The underdiagnosis of the vascular contribution to dementia". Journal of the Neurological Sciences. 229–230 (SI): 3–6. doi:10.1016/j.jns.2004.11.011. PMID 15760612.
4. ^ Blankenhorn Dh; Hodis HN (1993). "Atherosclerosis--reversal with therapy". Western Journal of Medicine (Comparative study; review). 159 (2): 172–179. PMC 1022223. PMID 8212682.
5. ^ a b Charidimou A, Werring DJ (2012). "Cerebral microbleeds and cognition in cerebrovascular disease: an update". Journal of the Neurological Sciences (Review). 322 (1–2): 50–55. doi:10.1016/j.jns.2012.05.052. PMID 22717258.
6. ^ Charidimou A, Jäger HR, Werring DJ (November 2012). "Cerebral microbleed detection and mapping: principles, methodological aspects and rationale in vascular dementia". Exp. Gerontol. (Review). 47 (11): 843–52. doi:10.1016/j.exger.2012.06.008. PMID 22750456.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cerebral atherosclerosis | c0007775 | 28,750 | wikipedia | https://en.wikipedia.org/wiki/Cerebral_atherosclerosis | 2021-01-18T18:31:36 | {"mesh": ["D002537"], "umls": ["C0007775"], "icd-10": ["I67.2"], "wikidata": ["Q17083190"]} |
A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Situs ambiguus | c0266642 | 28,751 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157769 | 2021-01-23T17:58:36 | {"mesh": ["D059446"], "umls": ["C0266642", "C1167664"], "icd-10": ["Q89.3"], "synonyms": ["Incomplete situs inversus", "Partial situs inversus", "Situs ambiguous"]} |
Short rib–polydactyly syndrome
SpecialtyMedical genetics
Short rib–polydactyly syndrome is a family of four closely related dysplasias:
* I – "Saldino-Noonan type"
* II – "Majewski type"
* III – "Verma-Naumoff type" (associated with DYNC2H1)[1]
* IV – "Beemer-Langer type"
## References[edit]
1. ^ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
## External links[edit]
Classification
D
* ICD-10: Q77.2
* ICD-9-CM: 756.5
* OMIM: 263530 263520 263510 269860
* MeSH: D012779
* DiseasesDB: 32791
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
* v
* t
* e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3
Myosin
* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly
Troponin
* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5
Tropomyosin
* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1
Titin
* Hypertrophic cardiomyopathy 9
Other
* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
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* Terminal osseous dysplasia with pigmentary defects
IF
1/2
* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures
3
* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I
* GFAP: Alexander disease
* Peripherin: Amyotrophic lateral sclerosis
4
* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis
5
* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10
Dynein
* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3
Other
* Tauopathy
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Membrane
* Spectrin: Spinocerebellar ataxia 5
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Ankyrin: Long QT syndrome 4
* Hereditary spherocytosis 1
Catenin
* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)
Other
* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8
* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna
* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9
* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
Related topics: Cytoskeletal proteins
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Short rib–polydactyly syndrome | c0036996 | 28,752 | wikipedia | https://en.wikipedia.org/wiki/Short_rib%E2%80%93polydactyly_syndrome | 2021-01-18T18:51:21 | {"mesh": ["D012779"], "umls": ["C0036996"], "icd-9": ["756.5"], "icd-10": ["Q77.2"], "orphanet": ["1505"], "wikidata": ["Q4420146"]} |
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.
Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).
In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.
## Frequency
Childhood absence epilepsy affects 2 to 8 in 100,000 children under age 15 each year. The condition is more common in girls than in boys.
## Causes
The genetics of childhood absence epilepsy are complex and not completely understood. It is thought that multiple genetic changes or a combination of genetic and environmental factors contribute to development of the condition. Most genetic changes associated with childhood absence epilepsy are rare, having been found in only a small number of affected individuals. Each genetic change appears to play a role in some populations but not others.
Several genes associated with childhood absence epilepsy provide instructions for making pieces (subunits) of the GABAA receptor protein. The GABAA receptor acts as a channel that allows negatively charged chlorine atoms (chloride ions) to cross the cell membrane. The influx of chloride ions in nerve cells (neurons) in developed brains creates an environment that blocks (inhibits) signaling between neurons and prevents the brain from being overloaded with too many signals. Mutations in GABAA receptor subunit genes lead to production of altered subunit proteins that cannot form functional receptors, so fewer GABAA receptors are available. As a result, neurons become overloaded with signals. Researchers believe that the overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures.
Problems with another type of ion channel, called a calcium channel, are also associated with childhood absence epilepsy. Calcium channels transport positively charged calcium atoms (calcium ions) into cells. These channels help control the release of neurotransmitters, which are chemicals that relay signals from one neuron to another. Mutations that result in overactive calcium channels cause certain neurons to become overstimulated, triggering seizures.
Mutations in other genes that do not provide instructions for making ion channels have also been associated with childhood absence epilepsy. It is not clear how these changes are involved in the development of absence seizures.
### Learn more about the gene associated with Childhood absence epilepsy
* GABRA1
Additional Information from NCBI Gene:
* CACNA1H
* GABRB3
* GABRG2
* JRK
## Inheritance Pattern
Because childhood absence epilepsy appears to be a complex disease without a single genetic cause, it does not have a straightforward pattern of inheritance. When associated with mutations in GABAA receptor or calcium channel genes, it seems to follow an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to increase the likelihood of the disorder. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Childhood absence epilepsy | c1838604 | 28,753 | medlineplus | https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/ | 2021-01-27T08:24:33 | {"omim": ["600131", "612269", "611942", "607681"], "synonyms": []} |
Opsoclonus
Other namesSaccadomania
SpecialtyNeurology
Opsoclonus refers to uncontrolled, irregular, and nonrhythmic eye movement. Opsoclonus consists of rapid, involuntary, multivectorial (horizontal and vertical), unpredictable, conjugate fast eye movements without inter-saccadic intervals.[1] It is also referred to as saccadomania or reflexive saccade. The movements of opsoclonus may have a very small amplitude, appearing as tiny deviations from primary position.
Possible causes of opsoclonus include neuroblastoma and encephalitis in children, and breast, lung, or ovarian cancer in adults. Other considerations include multiple sclerosis, toxins, medication effects (e.g. Serotonin Syndrome), celiac disease, certain infections (West Nile virus, Lyme disease), non-Hodgkin lymphoma, and renal adenocarcinoma.[2] It can also be caused by a lesion in the omnipause neurons which tonically inhibit initiation of saccadic eye movement (until signaled by the superior colliculus) by blocking paramedian pontine reticular formation (PPRF) burst neurons in the pons. It frequently occurs along with myoclonus in opsoclonus myoclonus syndrome.
## See also[edit]
* Clonus
* Migraine
* Epilepsy
* Pathologic nystagmus
* Physiologic nystagmus
* Psychogenic non-epileptic seizures
* Saccade
* Ocular flutter
## References[edit]
1. ^ Venes, Donald (2009). "Opsoclonus". Taber's Cyclopedic Medical Dictionary. 21: 1638.
2. ^ Wong A (2007). "An update on opsoclonus". Curr Opin Neurol (Review). 20 (1): 25–31. doi:10.1097/WCO.0b013e3280126b51. PMID 17215685. S2CID 11667392.
## External links[edit]
Classification
D
* ICD-10: H57
* ICD-9-CM: 379.59
* SNOMED CT: 194177006
* Opsoclonus in cancer
This article about the eye is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Opsoclonus | c0242567 | 28,754 | wikipedia | https://en.wikipedia.org/wiki/Opsoclonus | 2021-01-18T18:30:24 | {"mesh": ["D015835"], "icd-9": ["379.59"], "icd-10": ["H57"], "wikidata": ["Q2027232"]} |
Exanthem
Other namesExanthema
Rash seen in rubella
SpecialtyDermatology
An exanthem is a widespread rash occurring on the outside of the body and usually occurring in children. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease.
The term exanthem is from the Greek ἐξάνθημα, exánthēma, 'a breaking out'.[1] It can be contrasted with enanthems which occur inside the body, such as on mucous membranes.
## Contents
* 1 Infectious exanthem
* 2 See also
* 3 References
* 4 External links
## Infectious exanthem[edit]
In 1905, the Russian-French physician Léon Cheinisse (1871-1924), proposed a numbered classification of the six most common childhood exanthems.[2][3][4][5][6]
Of these six "classical" infectious childhood exanthems,[7] four are viral. Numbers were provided in 1905.[8]
The four viral exanthema have much in common, and are often studied together as a class. They are:
Name Number Virus
(rubeola) measles "first disease" measles virus
rubella, ("German measles") identified in 1881.[9] "third disease" rubella virus
erythema infectiosum, identified as a distinct condition in 1896.[10] "fifth disease" parvovirus B19
roseola infantum "sixth disease" HHV-6 and HHV-7
Scarlet fever, or "second disease", is associated with the bacterium Streptococcus pyogenes. Fourth disease, also known as "Dukes' disease" is a condition whose existence is not widely accepted today. It was described in 1900 and is postulated to be related to the bacterium Staphylococcus aureus.[9]
In 1979 and 2001 a possible "seventh diease" was postulated following reports of a condition in Japan also referred to as acute febrile infantile mucocutaneous lymph node syndrome (MCLS).[11]
Many other common viruses apart from the ones mentioned above can also produce an exanthem as part of their presentation, though they are not considered part of the classic numbered list:
* Varicella zoster virus (chickenpox or shingles)
* Mumps
* rhinovirus (the common cold)
* unilateral laterothoracic exanthem of childhood
* Some types of viral haemorrhagic fever are also known to produce a systemic rash of this kind during the progression of the disease.
* Tick-borne diseases like Rocky Mountain spotted fever produce a rash that may become extensive enough so as to be classified as exanthemous in as many as 90% of children with the disease.[12]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ "Roseola Glossary of Terms with Definitions on MedicineNet.com". Archived from the original on 2008-09-14.
2. ^ Robert R. Briney. Primary Cutaneous Actinomycosis
3. ^ David M. Morens. Fifth Disease: Still Hazy After All These Years
4. ^ Dictionary of Virology
5. ^ St. Louis Courier of Medicine (1906)
6. ^ Principles and Practice of Clinical Virology
7. ^ Bialecki C, Feder HM, Grant-Kels JM (November 1989). "The six classic childhood exanthems: a review and update". J Am Acad Dermatol. 21 (5 Pt 1): 891–903. doi:10.1016/s0190-9622(89)70275-9. PMID 2681288.
8. ^ "fifth disease" at Dorland's Medical Dictionary
9. ^ a b Weisse ME (January 2001). "The fourth disease, 1900-2000". Lancet. 357 (9252): 299–301. doi:10.1016/S0140-6736(00)03623-0. PMID 11214144.
10. ^ Altman, Lawrence K (November 30, 1982). "THE DOCTOR'S WORLD". The New York Times. Retrieved 2009-11-07.
11. ^ Patel, Mitesh; Charlton, Rodger (2015-07-27). "First to seventh diseases: discarded diagnoses?". BMJ: h3525. doi:10.1136/bmj.h3525. ISSN 1756-1833.
12. ^ https://www.cdc.gov/mmwr/pdf/r/rr5504.pdf
## External links[edit]
Classification
D
* ICD-10: A38, B05-B09
* ICD-9-CM: 034, 055-057, 782.1
* MeSH: D005076
* DiseasesDB: 25831
* Overview at About.com
* Definition at MedTerms
* Differential diagnosis
* Dermatology Quiz Includes photo, diagnosis, and treatment of unilateral laterothoracic exanthem (ULE).
* v
* t
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Numbered Diseases of Childhood
Diseases
* First Disease (Measles)
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* Third Disease (Rubella)
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* v
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*
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* Herpesvirus
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* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
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Poxviridae
Ortho
* Variola
* Smallpox
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* CPXV
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* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Exanthem | c0015230 | 28,755 | wikipedia | https://en.wikipedia.org/wiki/Exanthem | 2021-01-18T18:32:34 | {"mesh": ["D005076"], "umls": ["C0015230"], "icd-10": ["B08", "B09", "A38", "B07", "B05", "B06"], "wikidata": ["Q14509067"]} |
Wobbler disease is a catchall term referring to several possible malformations of the cervical vertebrae that cause an unsteady (wobbly) gait and weakness in dogs and horses. A number of different conditions of the cervical (neck) spinal column cause similar clinical signs. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae.[1] Wobbler disease is also known as cervical vertebral instability, cervical spondylomyelopathy (CSM), and cervical vertebral malformation (CVM). In dogs, the disease is most common in large breeds, especially Great Danes and Doberman Pinschers. In horses, it is not linked to a particular breed, though it is most often seen in tall, race-bred horses of Thoroughbred or Standardbred ancestry. It is most likely inherited to at least some extent in dogs and horses.
## Contents
* 1 Wobbler disease in dogs
* 1.1 Commonly affected dog breeds
* 2 Wobbler disease in horses
* 2.1 Clinical Presentation
* 2.2 Diagnosis
* 2.3 Commonly affected horse breeds
* 3 References
* 4 External links
## Wobbler disease in dogs[edit]
X-ray of wobbler disease in a dog
Wobbler disease is probably inherited in the Borzoi, Great Dane, Doberman, and Basset Hound.[2] Instability of the vertebrae of the neck (usually the caudal neck) causes spinal cord compression. In younger dogs such as Great Danes less than two years of age, wobbler disease is caused by stenosis (narrowing) of the vertebral canal[3] related to degeneration of the dorsal articular facets and subsequent thickening of the associated joint capsules and ligaments.[1] A high-protein diet may contribute to its development.[4] In middle-aged and older dogs such as Dobermans, intervertebral disc disease leads to bulging of the disc or herniation of the disc contents, and the spinal cord is compressed.[3] In Great Danes, the C4 to C6 vertebrae are most commonly affected; in Dobermans, the C5 to C7 vertebrae are affected.[5]
MRI of wobbler disease in the neck of a dog
The disease tends to be gradually progressive. Symptoms such as weakness, ataxia, and dragging of the toes start in the rear legs. Dogs often have a crouching stance with a downward flexed neck. The disease progresses to the front legs, but the symptoms are less severe. Neck pain is sometimes seen. Symptoms are usually gradual in onset, but may progress rapidly following trauma.[6] X-rays may show misaligned vertebrae and narrow disk spaces, but it is not as effective as a myelogram, which reveals stenosis of the vertebral canal. Magnetic resonance imaging has been shown to be more effective at showing the location, nature, and severity of spinal cord compression than a myelogram.[7] Treatment is either medical to control the symptoms, usually with corticosteroids and cage rest, or surgical to correct the spinal cord compression. The prognosis is guarded in either case. Surgery may fully correct the problem, but it is technically difficult and relapses may occur. Types of surgery include ventral decompression of the spinal cord (ventral slot technique), dorsal decompression, and vertebral stabilization.[8] One study showed no significant advantage to any of the common spinal cord decompression procedures.[9] Another study showed that electroacupuncture may be a successful treatment for Wobbler disease.[10] A new surgical treatment using a proprietary medical device has been developed for dogs with disc-associated wobbler disease. It implants an artificial disc (cervical arthroplasty) in place of the affected disc space.[11]
### Commonly affected dog breeds[edit]
* Great Dane
* Doberman
* St. Bernard
* Weimaraner
* German Shepherd Dog
* Boxer
* Basset Hound
* Rhodesian Ridgeback
* Dalmatian
* Samoyed
* Old English Sheepdog
* Bull Mastiff[4]
* Newfoundland
* Greyhound
* Rottweiler
T2 weighted MRI in neutral (A) and linear traction (B) of a seven-year-old Doberman with a two-year history of cervical pain treated with NSAIDs and presented acutely tretraplegic: A C6-C7 and C5-C6 traction responsive myelopathy are evident on MRI. The spinal-cord hyperintensity seen at the C5-C6 is suggestive of chronic lesion and most likely responsible for the chronic history of cervical pain, while the C5-C6 lesion was most likely responsible for the acute tetraplegia.
Same dog (A) treated with double implant (B) three days after surgery: The dog became ambulatory three days after surgery. Four weeks after surgery, it had ataxia without conscious proprioceptive deficits, and three months after surgery, the dog was neurologically normal. The owner reported it had been two years since the dog was able to hold its neck in an elevated position.
## Wobbler disease in horses[edit]
Wobbler disease or wobbler's syndrome is a broad category of cervical disorders in the horse, including the conditions listed above, as well as equine wobbles anemia and cervical vertebral myelopathy, spinal cord compression (sometimes referred to colloquially among horse owners as "cervical arthritis" due to the arthritis that accumulates in facets). Within the horse community, any neurological problem that causes limb proprioception issues or decreased performance in the horse that is suspected to be rooted in the neck is considered a type of wobbler disease. Most forms of wobbler disease have a root cause in cervical vertebral myelopathy (CVM), which causes inflammation and arthritis in the joint and is painful to affected horses. At this time it is believed to possibly be a congenital condition. Mounting evidence is growing that points to CVM and other cervical and vertebral disorders (like Kissing Spine) as hereditary and found in populations of specific families.[12]
Other forms, such as cervical arthritis and equine wobbles anemia, are concentrated in certain breeds and demonstrate possible hereditary factors. Horses with wobbler disease often exhibit ataxia (implying dysfunction of parts of the nervous system), show weakness in the hindquarters, or may knuckle over in their fetlocks, particularly in the rear. They also may show overall stiffness especially in the neck and back and may not move fluidly. A common ataxic symptom is the horse will list to one side behind. They also may demonstrate uneven strides with one leg intermittently shorter in step. Horses with wobbler disease or cervical anomalies can demonstrate difficult to diagnose lamenesses that come and go, and often are not resolved by veterinary blocks to the limbs. With advanced stages of the disease, affected horses are prone to falling due to extreme listing behind and often demonstrate difficulty getting up from lying down, or reluctance to lie down at all. While some cases are successfully treated with nutritional and medical management, surgery is also used. One method is the use of titanium baskets, placed to fuse the vertebrae, thereby preventing compression of the spinal cord. Some horses are able to return to work, with a few able to reach competitive levels. No complete cure for the condition is known. Famous horses known to have completed basket surgery include Seattle Slew. Seattle Slew underwent two basket surgeries and has sired multiple offspring that have cervical arthritis. He is one of many Thoroughbred stallions to have undergone basket surgery and still be used for stud.
Because wobbler disease is the best known of the neurological conditions that affect horses, other, unrelated conditions, such as kissing spine, equine protozoal myeloencephalitis and cerebellar abiotrophy, are sometimes misdiagnosed as wobbler disease, though the causes and symptoms differ.
### Clinical Presentation[edit]
Including the symptoms listed above, clinical presentations of "wobblers" can also include neck pain and stiffness, difficulty tracking up or gait abnormalities, decreased performance, intermittent or swapping lameness particularly in diagonal pairs, forelimb lameness, abnormal head and neck posture, defensiveness or change in behavior, and abnormal sweat patterns.
### Diagnosis[edit]
Wobbler disease is definitively diagnosed by x-ray, nuclear scintography or bone scan. X-rays will show channel widening or filling the easiest and are often most cost effective to horse owners. X-rays will also show any structural anomaly, arthritis, facet remodeling, or bone spurs present. Preliminary diagnosis can be made by ultrasound but x-rays are needed to measure the true depth of facet involvement. For extent of damage to associated structures, veterinarians may opt to have the horse undergo a bone scan or nuclear scintography.
### Commonly affected horse breeds[edit]
* Warmblood[13]
* Standardbred
* American Quarter Horse
* American Paint Horse
* Thoroughbred
## References[edit]
1. ^ a b Bagley, Rodney S. (2006). "Acute Spinal Disease" (PDF). Proceedings of the North American Veterinary Conference. Retrieved 2007-02-19.
2. ^ "Spinal Cord Disorders: Small Animals". The Merck Veterinary Manual. 2006. Retrieved 2007-02-19.
3. ^ a b Chrisman, Cheryl; Clemmons, Roger; Mariani, Christopher; Platt, Simon (2003). Neurology for the Small Animal Practitioner (1st ed.). Teton New Media. ISBN 1-893441-82-2.
4. ^ a b Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 0-7216-6795-3.
5. ^ Danourdis, Anastassios M. (2004). "The Diagnostic and Therapeutic Approach to Cervical Spondylomyelopathy". Proceedings of the 29th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-02-19.
6. ^ Braund, K.G. (2003). "Degenerative and Compressive Structural Disorders". Braund's Clinical Neurology in Small Animals: Localization, Diagnosis and Treatment. Retrieved 2007-02-19.
7. ^ da Costa R, Parent J, Dobson H, Holmberg D, Partlow G (2006). "Comparison of magnetic resonance imaging and myelography in 18 Doberman pinscher dogs with cervical spondylomyelopathy". Vet Radiol Ultrasound. 47 (6): 523–31. doi:10.1111/j.1740-8261.2006.00180.x. PMID 17153059.
8. ^ Wheeler, Simon J. (2004). "Update on Spinal Surgery I: Cervical Spine". Proceedings of the 29th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-02-19.
9. ^ Jeffery N, McKee W (2001). "Surgery for disc-associated wobbler syndrome in the dog--an examination of the controversy". J Small Anim Pract. 42 (12): 574–81. doi:10.1111/j.1748-5827.2001.tb06032.x. PMID 11791771.
10. ^ Sumano H, Bermudez E, Obregon K (2000). "Treatment of wobbler syndrome in dogs with electroacupuncture". Dtsch Tierarztl Wochenschr. 107 (6): 231–5. PMID 10916938.
11. ^ Adamo PF. "Cervical arthroplasty in two dogs with disk-associated cervical spondylomyelopathy". J Am Vet Med Assoc. 239: 808–17. doi:10.2460/javma.239.6.808. PMID 21916764.
12. ^ http://www.vetmed.ucdavis.edu/ceh/local_resources/pdfs/pubs-HR29-2-bkm-sec.pdf
13. ^ https://www.colovma.org/wp-content/uploads/sites/8/2016/09/Story_CervicalDisorders.pdf
## External links[edit]
Wikimedia Commons has media related to Wobbler disease.
* Video of a dog with wobbler syndrome treated with the artificial disc replacement
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Wobbler disease | None | 28,756 | wikipedia | https://en.wikipedia.org/wiki/Wobbler_disease | 2021-01-18T18:49:52 | {"wikidata": ["Q1417007"]} |
## Summary
### Clinical characteristics.
Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome characterized by asthenic build, facial dysmorphism with a prominent lower lip, kyphoscoliosis, osteoporosis, speech abnormalities, and seizures. Developmental delay usually presents as failure to meet early developmental milestones and then evolves to moderate to profound intellectual disability (which appears to remain stable over time) and variable motor disability. Asthenic habitus and low muscle mass usually develop during the first year, even in males who are ambulatory. During the first decade, males with SRS develop osteoporosis, resulting in fractures in the absence of trauma.
### Diagnosis/testing.
The diagnosis of SRS is established by identification of a hemizygous loss-of-function SMS pathogenic variant on molecular genetic testing.
### Management.
Treatment of manifestations: Speech, physical, and/or occupational therapy may be helpful. Standard surgical treatment by craniofacial team for those with cleft palate. Calcium supplementation has slightly improved bone mineral density in a few individuals. Standard management of kyphoscoliosis by orthopedics. Seizures have shown varying responses to anti-seizure medications; Carbamazepine, phenobarbital, clobazam, levetiracetam, and valproic acid have been used successfully in some individuals.
Surveillance: Monitor developmental progress and educational needs. Clinical examination and DEXA scans to evaluate for progression of osteoporosis and investigate for factures if medically indicated. While receiving calcium supplementation, individuals should be evaluated regularly for ectopic calcification by endocrinology. Clinical examinations for kyphoscoliosis at each visit. Monitor those with seizures as clinically indicated.
### Genetic counseling.
SRS is inherited in an X-linked manner. If the mother of the proband has a pathogenic variant, the chance of transmitting it in each pregnancy is 50%: Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers (to date, features of SRS have not been observed in heterozygous females). Affected males are not known to reproduce. Once an SMS pathogenic variant is identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic testing are possible.
## Diagnosis
Formal diagnostic criteria have not been established for Snyder-Robinson syndrome (SRS).
### Suggestive Findings
Snyder-Robinson syndrome should be suspected in males with the following findings [Arena et al 1996, Cason et al 2003, de Alencastro et al 2008, Becerra-Solano et al 2009, Schwartz et al 2011, Peron et al 2013, Zhang et al 2013, Albert et al 2015, Abela et al 2016]:
* Intellectual disability (100% [20/20]); classified as moderate to severe generalized psychomotor delay that begins in infancy. IQ ranges from unmeasurable to 60.
* Hypotonia (100% [20/20]); secondary to poor muscular development
* Asthenic body build and diminished body bulk (95% [19/20]). Many individuals also have measurably long fingers and toes.
* Bone abnormalities including osteoporosis (100% [14/14]), fractures and kyphoscoliosis (84%; 16/19 individuals had both fractures and kyphoscoliosis), and joint contractures (15% [3/14])
* Facial dysmorphism including asymmetric face (64% [13/20]) and prominent lower lip (79% [16/20])
* Ambulation abnormalities ranging from unsteady gait to inability to walk (71% [14/19])
* Speech abnormalities including nasal, dysarthric, coarse, or absent speech (100% [19/19])
* Abnormal palate morphology including high, narrow, or cleft palate (83% [15/17])
* Mild short stature (73% [14/19]). Growth rates are normal but the length or height is at least 1 SD below the mean. Height in four of seven (on whom data are available) was less than 2 SD below the mean.
* Seizures (67%). Usually present by early childhood. Severity and frequency vary and success of treatment varies.
* Genital abnormalities (15% [3/20]) including low testicular volume, hypospadias, and undescended testes
* Renal complications (15% [3/20]). Nephrocalcinosis (unrelated to calcium administration) and renal cysts have been reported in three individuals with SRS.
### Establishing the Diagnosis
Male proband. The diagnosis of Snyder-Robinson syndrome is established in a male proband with EITHER of the following:
* Spermine synthase (SMS) enzyme analysis. Decreased or absent SMS enzyme activity in fresh white cells or cultured lymphoblasts
Note: Increased spermidine to spermine ratio in fresh white cells or cultured lymphoblasts is pathognomonic of SRS. (Absolute levels of spermidine or spermine do not differ significantly between affected individuals and controls.)
* Molecular genetic testing. Identification of a hemizygous loss-of-function pathogenic variant in SMS (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing and multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing, exome array or high-density microarray) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of Snyder-Robinson syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with intellectual disability are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic findings suggest the diagnosis of Snyder-Robinson syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of SMS detects small intragenic deletions/insertions and missense, nonsense, and splice site variants. If no pathogenic variant is found, performing gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications should be done if possible. Note: Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis.
* An intellectual disability multigene panel that includes SMS and other genes of interest (see Differential Diagnosis) may be considered to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by intellectual disability, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing, however, is slowly becoming the preferred approach.
If exome sequencing is not diagnostic, exome array (when clinically available) or high-density microarray may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis.
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 Snyder-Robinson Syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SMSSequence analysis 3, 437/37 5
Gene-targeted deletion/duplication analysis 6No pathogenic deletion/duplication has been reported in an affected male 7
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\.
Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis.
5\.
Peron et al [2013]; Zhang et al [2013]; Albert et al [2015]; Abela et al [2016]; Larcher et al [2020]; Schwartz et al, unpublished data.
6\.
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.
7\.
Among more than 11,300 individuals studied, 14 deletions and duplications have been reported to span SMS (see Genetically Related Disorders). Two other variants of unknown significance are reported in the database of genomic variants: an intronic deletion observed in 36 unaffected male and female controls [Mills et al 2006] and an exon 7 deletion observed in an unaffected Korean male [Kim et al 2009].
## Clinical Characteristics
### Clinical Description
Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome with a specific clinical phenotype consisting of asthenic build, facial dysmorphism with a prominent lower lip, kyphoscoliosis, osteoporosis, and speech abnormalities.
To date, 20 individuals have been identified with a pathogenic variant in SMS [Peron et al 2013, Zhang et al 2013, Albert et al 2015, Abela et al 2016, Larcher et al 2020]. The following description of the phenotypic features associated with this condition is based on these reports.
### Table 2.
Features of Snyder-Robinson Syndrome
View in own window
FeatureProportion of Persons w/FeatureComment
Intellectual
disability22/22Moderate to severe
Hypotonia22/22Usually presents at birth & is persistent
Speech
abnormalities19/21Nasal, dysarthric, coarse, or absent
Ambulation
abnormalities15/19Ranges from unsteady gait to inability to walk
Asthenic
body build19/20Low muscle mass persistent
Short stature14/191-2 SD below mean
Craniofacial
features18/20Incl asymmetric face, prominent lower lip, & high, narrow, or cleft palate
Early-onset
osteoporosis16/16Fractures
Seizures15/22
Long hands14/15
Long great toes10/14
Onset. Developmental delay and facial dysmorphism manifest within the first year of life.
Developmental delay. Hypotonia is usually present in the neonatal period which can persist into early childhood. Developmental delay usually presents as failure to meet milestones and then evolves to moderate to profound intellectual disability. The majority of males with SRS (22 published, 13 unpublished) do not appear to have progressive cognitive decline; rather, they remain cognitively stable throughout their lifetime. Those who develop speech (10/14) develop it late, some as late as age five years. Most individuals with SRS are able to follow simple commands. For two individuals who had no speech, it is unclear if a contributing factor was the absence of social contact [de Alencastro et al 2008]. Delay in motor development, observed in the majority of individuals with SRS, usually presents with delays in normal movements that occur in early childhood and do not resolve.
Progression. All reported males with SRS have maintained previously acquired skills; however, two recently identified unreported males have had progressive neurologic decline and loss of previously obtained skills. The measured IQ and cognitive functioning were highest in the original family, possibly due to the presence of residual SMS enzyme activity [Snyder & Robinson 1969, Cason et al 2003].
Asthenic habitus and low muscle mass usually develop during the first year. Although decreased strength is not described in males with SRS, most have progressive loss of muscle mass. Loss of muscle mass occurs even in males who are ambulatory, suggesting that the loss is probably the result of an underlying defect, not lack of use.
Mild short stature (73%). Growth rates are normal but the length or height is at least 1 SD below the mean. However, height on the 13 males for which data was available was variable, ranging from the 95th percentile to 3 SD below the mean.
Craniofacial features include asymmetric face (64% [13/20]), prominent lower lip (79% [16/20]), and high, narrow, or cleft palate (83% [15/17]). Head circumference is often in the upper centiles.
Osteoporosis. During the first decade of life, males with SRS develop osteoporosis. Most experience fractures in the absence of trauma or after minor trauma within the first decade, at which point the osteoporosis is discovered; the long bones are most severely affected. Among males reported, the osteoporosis and fracture activity do not progressively worsen with age but remain at the severity found at the time of diagnosis. Bone density measurements were documented in two individuals [Albert et al 2015]. The mechanism of decreased bone mineral density is not well understood
Other musculoskeletal features. Kyphoscoliosis (13/16) can appear within the first decade of life. This observation is rather rare in other X-linked conditions. Limb contractures are rare, having only been noted in four males. Abnormal pectus was noted in nine males.
Seizures (67%). Usually present by early childhood. Severity and frequency vary. In some affected individuals, seizures may be drug-resistant [Authors’ personal observation].
Brain MRI findings. In individuals for which brain imaging was done, ventricular dilation was noted in two of 11 individuals, a thin corpus callosum was noted in three of ten individuals. Abnormal calcification (which has been noted in a few individuals) occurs in the absence of calcium supplementation.
Genital abnormalities reported in 15% of males included low testicular volume, hypospadias, and undescended testes.
Renal complications have occurred in 15% of males including nephrocalcinosis (unrelated to calcium administration) and renal cysts reported in three individuals with SRS.
Skewed X-chromosome inactivation has been observed in heterozygous females in at least three families with SRS [Cason et al 2003; de Alencastro et al 2008; Author, personal communication]. It is unclear if skewed X-chromosome inactivation is a protective mechanism. In at least one of the families, presence of the SMS pathogenic variant in a heterozygous female is not associated with skewing of X-chromosome inactivation [Cason et al 2003].
### Genotype-Phenotype Correlations
No clear genotype-phenotype correlations have been established for Snyder-Robinson syndrome. Even within a family, the phenotype varies; for example, in one family IQ values ranged from 46 to 77.
Based on the limited data available, the c.166G>A (p.Gly56Ser), c.388C>T (p.Arg130Cys), and c.443A>G (p.Gln148Arg) pathogenic variants have been associated with more severe manifestations [de Alencastro et al 2008, Albert et al 2015, Abela et al 2016].
A male infant with an SMS truncating variant, the first one observed, died a short time after birth [Larcher et al 2020]. The clinical presentation was quite severe, with multiple organ systems involved.
### Penetrance
All individuals with SRS have deficient spermine synthase enzyme activity. However, as its prevalence in the general population has not been determined, penetrance of deficient spermine synthase activity as SRS cannot be stated.
Sequence variants of SMS have been reported for one seemingly unaffected male [Kim et al 2009]. Spermine synthase activity was not measured, and thus the functional consequences of this variant are unclear.
Additionally, five other nonsynonymous SMS variants were identified in large sequencing cohorts; phenotype, sex, and enzyme function are unavailable for these individuals.
### Nomenclature
When Snyder and Robinson first described this syndrome, they labeled it "recessive sex-linked mental retardation in the absence of other recognizable abnormalities" [Snyder & Robinson 1969]. It is now considered an X-linked intellectual disability syndrome with a specific clinical phenotype consisting of asthenic build, facial dysmorphism with a prominent lower lip, kyphoscoliosis, osteoporosis, seizures, and speech abnormalities (see Clinical Description).
### Prevalence
The prevalence of SRS is unknown. Of the twenty individuals evaluated and reported in the current literature, 13 were identified in the Americas: Mexico, Brazil, and the United States, and seven were identified in Western European countries, indicating that the disorder probably exists in most populations.
## Differential Diagnosis
X-linked intellectual disability syndromes with osteoporosis. The observation that 30% more males than females have intellectual disability (ID) suggests that pathogenic variants of genes on the X chromosome are among the most frequent causes of ID among males [Stevenson et al 2012]. X-linked intellectual disability (XID) should be considered in males who are simplex cases (i.e., a single occurrence of ID in a family) as well as in males with a family history of intellectual disability consistent with X-linked inheritance. Consideration of XID as a cause of ID in simplex cases is relevant since approximately 33% of pathogenic variants causing the more severe forms of XID arise de novo.
Distinguishing between various forms of syndromic ID by clinical findings alone is often difficult because of overlapping clinical features, and diagnosis frequently requires identification of the molecular cause. Nonetheless, Snyder-Robinson syndrome (SRS) can be distinguished from many forms of syndromic XID by the combination of hypotonia, facial dysmorphism, asthenic body build, and both osteoporosis and kyphoscoliosis. While kyphoscoliosis is visible, osteoporosis is not, although the presence of fractures is suggestive of it. Because osteoporosis is rare in XID, it can be utilized as a distinguishing feature and should certainly be considered in a male with fractures.
XID intellectual disability syndromes with overlapping findings of SRS and osteoporosis are summarized in Table 3.
### Table 3.
X-linked Intellectual Disability Syndromes with Overlapping Findings of Snyder-Robinson Syndrome and Osteoporosis
View in own window
Gene(s)Differential Diagnosis DisorderClinical Features of Differential Diagnosis Disorder
Overlapping w/SRSDistinguishing from SRS
GKGlycerol kinase deficiency (OMIM 307030)
* DD
* Growth restriction
* Muscle weakness
* Osteoporosis
Adrenal insufficiency
GRIA3GRIA3-related ID (OMIM 300699)
* ID
* Asthenic habitus
* Seizures
Aggressive behavior
MAOA
MAOB
NDPXp11.3 duplication 1
* Moderate-to-severe ID
* Osteoporosis
* Scoliosis
* Seizures
* Speech abnormalities
* Excessively friendly demeanor
* Normal facial features
* Normal stature
SLC16A2MCT8-specific thyroid hormone cell-membrane transporter deficiency (Allan-Herndon-Dudley syndrome)
* ID
* Hypotonia
* ↓ muscle mass
* Unsteady gait / ataxia
Different facial features
DD = developmental delay, ID = intellectual disability, SRS = Snyder-Robinson syndrome
1\.
Klitten et al [2011]
Other syndromes with osteoporosis to be considered in the differential diagnosis of SRS include the following:
* Cerebral palsy (CP). CP is a heterogeneous group of disorders arising from multiple genetic and environmental etiologies. In some individuals the phenotype overlaps that of SRS. Shared features can include seizures, osteoporosis, scoliosis, and developmental delay.
* Prader-Willi syndrome (PWS). Neonatal hypotonia, developmental delay, osteoporosis, and scoliosis are also features of PWS. Unlike individuals with SRS, those with PWS have metabolic syndrome, obesity, and severe behavior problems. PWS is caused by abnormal parent-specific imprinting within the Prader-Willi critical region (PWCR) on chromosome 15. The risk to the sibs of an affected child of having PWS depends on the genetic mechanism that resulted in the absence of expression of the paternally contributed 15q11.2-q13 region.
* Urban syndrome, described in two teenage males, in one family, is characterized by intellectual disability, osteoporosis, and short stature [Urban et al 1979]. Unlike SRS, affected males were obese with normal muscle tone. The molecular basis of Urban syndrome is unknown.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Snyder-Robinson syndrome (SRS), the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended:
### Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with Snyder-Robinson Syndrome
View in own window
System/ConcernEvaluationComment
DevelopmentDevelopmental assessment
* To incl motor, adaptive, cognitive, & speech/language evaluation
* Evaluation for early intervention / special education
ConstitutionalWeight, length/height, & head circumferenceAssess for evidence of short stature, macrocephaly.
Cleft palateClinical evaluation incl feeding assessment
MusculoskeletalBone density assessment by DEXA scanTo determine degree of osteoporosis & need for calcium supplements or bisphosphonates 1
Clinical evaluation for kyphoscoliosisConsider radiographic scoliosis survey based on clinical suspicion & referral for orthopedic surgery as appropriate.
NeurologicNeurologic evaluation
* Assessment for hypotonia
* To incl brain MRI to assess abnormal calcification &/or brain abnormalities
* Consider EEG if seizures are a concern.
GenitourinaryRenal ultrasoundTo assess for renal abnormalities (rare)
Miscellaneous/
OtherConsultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
DEXA = dual-energy x-ray absorptiometry
1\.
Bisphosphonates have been used for osteoporosis in general; their efficacy in Snyder-Robinson syndrome has not been demonstrated, and initial evidence of efficacy is controversial.
### Treatment of Manifestations
### Table 5.
Treatment of Manifestations in Individuals with Snyder-Robinson Syndrome
View in own window
Manifestation/
ConcernTreatmentConsiderations/Other
DD/IDSpeech therapy, PT, &/or OTSome individuals have performed appropriately in special education programs, learned to follow commands, & held simple jobs [Arena et al 1996]; others showed no improvement of psychomotor skills w/special education [Becerra-Solano et al 2009].
Cleft palateStandard surgical treatment per craniofacial team
OsteoporosisCalcium supplementation
* Calcium supplementation has slightly improved bone mineral density in a few individuals [Becerra-Solano et al 2009]. Calcium supplementation should be started once ↓ bone mineral density is noted.
* The use of bisphosphonates is controversial & no studies currently demonstrate their effectiveness [Albert et al 2015].
KyphoscoliosisStandard management as recommended by orthopedist
EpilepsyStandardized treatment w/AEDs by experienced neurologist 1
* Carbamazepine, phenobarbital, clobazam, levetiracetam & valproic acid have successfully controlled seizures in some individuals.
* Avoid medications known to affect bone (e.g., some AEDs) as they can potentially worsen osteoporosis & ↑ risk of spontaneous fractures.
AEDs = antiepileptic drugs; DD/ID = developmental delay / intellectual disability; OT = occupational therapy; PT = physical therapy
1\.
Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy & My Child Toolkit.
### Surveillance
### Table 6.
Recommended Surveillance for Individuals with Snyder-Robinson Syndrome
View in own window
System/ConcernEvaluationFrequency
DD/IDMonitor developmental progress & educational needsAt each visit
Osteoporosis
* Clinical examination & DEXA scans to monitor progression of osteoporosis
* Radiographs to investigate for factures
When medically indicated
Ectopic calcificationReferral to endocrinologist to manage calcium supplementation due to risk of ectopic calcification.
Kyphoscoliosis
* Monitor for scoliosis.
* Orthopedic evaluation as indicated
Monitor clinically at each visit.
NeurologicMonitor those w/seizures as clinically indicated.When medically indicated
DD/ID = developmental delay / intellectual disability; DEXA = dual-energy x-ray absorptiometry
### 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Snyder-Robinson Syndrome | c0796160 | 28,757 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK144284/ | 2021-01-18T20:56:10 | {"mesh": ["C536678"], "synonyms": ["Spermine Synthase Deficiency"]} |
## Clinical Features
Acanthosis nigricans consists of thickening and hyperpigmentation of the skin of the entire body but especially in flexural areas. In an affected mother and daughter reported by Tasjian and Jarratt (1984), skin lesions were first noted in infancy.
Chuang et al. (1995) reported familial acanthosis nigricans affecting a 35-year-old woman, her 7-year-old son, and 5-year-old daughter. Absence of the eyebrows and eyelashes was also present in the affected members of this family. The mother had no axillary hair and her pubic hair was sparse. The boy also suffered from congenital heart disease and a congenital cataract in the left eye. Chuang et al. (1995) suggested that the combination of acanthosis nigricans and ectodermal defects in this family may represent a distinct nosologic entity. They referred to the hair problem as madarosis (loss of the eyebrows or of the eyelashes).
Inheritance
In 26 patients with malignant acanthosis nigricans (secondary to visceral carcinoma), Curth and Aschner (1959) found no other affected persons in the family. However, they identified families with benign acanthosis nigricans in successive generations, 3 in 1 family and 2 in 2 others, including instances of male-to-male transmission.
Jung et al. (1965) observed affected mother and daughter.
Lawrence et al. (1971) described a patient with acanthosis nigricans inherited from the father and telangiectasia (187300) inherited from the mother.
Using data from 397 participants from 2 Mexican-American family studies, Burke et al. (2000) investigated the heritability of acanthosis nigricans and its genetic correlation with other diabetes risk factors. They examined acanthosis nigricans as both a continuous trait and a dichotomous trait by means of a previously described validated scale. The results indicated that the heritability for the condition, when examined as a continuous trait, was high (0.58 +/- 0.10) and statistically significant (P less than 0.001). The heritability as a dichotomous trait was estimated to be moderate (0.23 +/- 0.05) and was also significant (P = 0.018). The additive genetic correlations between acanthosis nigricans and type 2 diabetes and its risk factors, including body mass index and fasting insulin, were high or moderately high and statistically significant. The random environmental correlations, by contrast, were low and statistically insignificant. These data suggested that genes that influence acanthosis nigricans have pleiotropic effects on diabetes and its risk factors.
In addition to the association with insulin resistance (see 610549), Seip syndrome (269700), and malignancy, acanthosis nigricans can be drug-induced; nicotinic acid, diethylstilbestrol, oral contraceptives, and exogenous glucocorticoids have been incriminated. Clear mendelian inheritance is seen when acanthosis nigricans is part of syndromes, e.g., Seip syndrome. Autosomal dominant acanthosis nigricans should be studied for insulin resistance.
Inheritance \- Autosomal dominant Skin \- Benign acanthosis nigricans \- Thick hyperpigmented flexural area skin ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ACANTHOSIS NIGRICANS | c0000889 | 28,758 | omim | https://www.omim.org/entry/100600 | 2019-09-22T16:45:31 | {"doid": ["3138"], "mesh": ["D000052"], "omim": ["100600"], "icd-10": ["L83"]} |
For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530.
Mapping
Using 13 microsatellite markers specific for 4q in a study of 7 of 8 persons with CL/P in a 5-generation family, Beiraghi et al. (1994) found evidence of linkage between the phenotype and 2 markers, D4S175 (maximum lod = 2.27 at theta = 0) and D4S192 (maximum lod = 1.93 at theta = 0). No linkage with markers on chromosome 6 was found in this family.
In linkage studies of 36 multiplex Chinese families with CL/P, Marazita et al. (2002) found the highest multipoint heterogeneity lod score (2.5) at 4q with marker D4S1629 under a recessive inheritance model. In addition, there was a positive identity-by-descent result with D4S2361.
Cytogenetics
In a father and son with cleft lip, Beiraghi et al. (2003) identified a balanced pericentric inversion of chromosome 4, inv(4)(p13q21). They found that the breakpoint at 4q21 interrupts the SCD5 gene (608370) at exon 2.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| OROFACIAL CLEFT 4 | c0158646 | 28,759 | omim | https://www.omim.org/entry/608371 | 2019-09-22T16:07:55 | {"doid": ["0080398"], "omim": ["608371"], "orphanet": ["199306", "199302", "141291"], "synonyms": ["Alternative titles", "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 4"]} |
Pipkin and Pipkin (1950) observed 8 cases in 3 generations of a Maltese-Lebanese family. Six of the affected had nystagmus.
Eyes \- Nystagmus Inheritance \- Autosomal dominant Skin \- Lentigines ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| LENTIGINES | c0023321 | 28,760 | omim | https://www.omim.org/entry/150900 | 2019-09-22T16:39:01 | {"mesh": ["D007911"], "omim": ["150900"], "icd-10": ["L81.4"]} |
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Harlequin ichthyosis | c0239849 | 28,761 | gard | https://rarediseases.info.nih.gov/diseases/6568/harlequin-ichthyosis | 2021-01-18T18:00:10 | {"mesh": ["D017490"], "omim": ["242500"], "orphanet": ["457"], "synonyms": ["Ichthyosis congenita, Harlequin fetus type", "Harlequin fetus"]} |
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Neophobia
SpecialtyPsychology
Neophobia is the fear of anything new, especially a persistent and abnormal fear. In its milder form, it can manifest as the unwillingness to try new things or break from routine. In the context of children the term is generally used to indicate a tendency to reject unknown or novel foods.[1] Food neophobia, as it may be referred to, is an important concern in pediatric psychology.[2][3]
In biomedical research, neophobia is often associated with the study of taste.
## Contents
* 1 Terminology
* 2 Examples
* 3 Food neophobia
* 3.1 Causes
* 3.2 Treatment
* 4 See also
* 5 References
## Terminology[edit]
The word neophobia comes from the Greek νέος, neos, meaning "new, young",[4] and φόβος, phobos, for "fear".[5] Cainophobia comes from the Greek καινός, kainos, meaning "new, fresh".[6][7] Alternative terms for neophobia include metathesiophobia, prosophobia, cainotophobia (or cainophobia), and kainophobia (or kainolophobia).[8]
## Examples[edit]
Norway rats and house mice are thought to have evolved increased levels of neophobia as they became commensal with humans because humans were routinely devising new methods (e.g., mousetraps) to eradicate them.[9]
Neophobia is also a common finding in aging animals, although apathy could also explain, or contribute to explain, the lack of exploratory drive systematically observed in aging. Researchers argued that the lack of exploratory drive was likely due neurophysiologically to the dysfunction of neural pathways connected to the prefrontal cortex observed during aging.[10]
Robert Anton Wilson theorized in his book Prometheus Rising that neophobia is instinctual in people after they begin to raise children. Wilson's views on neophobia are mostly negative, believing that it is the reason human culture and ideas do not advance as quickly as our technology. His model includes an idea from Thomas Kuhn's The Structure of Scientific Revolutions, which is that new ideas, however well proven and evident, are implemented only when the generations who consider them "new" die and are replaced by generations who consider the ideas accepted and old.
## Food neophobia[edit]
Food neophobia in humans has been described as the fear of eating new or unfamiliar foods. It differs from avoidant/restrictive food intake disorder. Food neophobia is particularly common in toddlers and young children. It is often related to an individual's level of sensation-seeking, meaning a person's willingness to try new things and take risks. Not only do people with high food neophobia resist trying new food, they also rate new foods that they do try as lower than neophilics.[11]
It is very typical for people to generally have a fear of new things and to prefer things that are familiar and common. Most people experience food neophobia to a certain extent, though some people are more neophobic than others. A measure of individual differences in food neophobia is the Food Neophobia Scale (FNS), which consists of a 10-item survey that requires self-reported responses on a seven-point Likert scale.[12] There is also a separate scale geared towards children called the Food Neophobia Scale for Children (FNSC), in which the parents actually do the reporting for the survey.[13]
In animals it has been shown that food neophobia is a fear of novelty lasting only a short duration (minutes at most), which is distinct from dietary conservatism, the prolonged refusal to add a novel food to the diet, which can last many days or even years.[14][15] Dietary conservatism has never yet been demonstrated in humans, although the genetically influenced behaviour of "fussy eating" in children[16][17] resembles the behaviour seen in animals.
Food neophobia relates to the omnivore's dilemma, a phenomenon that explains the choice that omnivores, and humans in particular, have between eating a new food and risking danger or avoiding it and potentially missing out on a valuable food source. Having at least some degree of food neophobia has been noted to be evolutionarily advantageous as it can help people to avoid eating potentially poisonous foods.[18]
### Causes[edit]
Genetics seem to play a role in both food neophobia and general neophobia. Research shows that about two-thirds of the variation in food neophobia is due to genetics. A study done on twin pairs showed an even higher correlation, indicating that genetics do play a factor in food neophobia.[13]
Psychosocial factors can also increase a child's chances of developing food neophobia. Young children carefully watch parental food preferences, and this may produce neophobic tendencies with regard to eating if parents tend to avoid some foods.[19]
Another cause includes being more sensitive than average to bitter tastes, which may be associated with a significant history of middle ear infection or an increased perception of bitter foods, known as a supertaster.[19]
Sometimes food neophobia is more directly caused by an environmental occurrence. For example, with poison-induced neophobia, a food-poisoning experience can lead to people not only avoiding the flavor(s) they associate with creating their illness but also avoiding all novel flavors during the period directly following the poisoning experience. This can be seen as the body's attempt to prevent any new and risky food items from entering the body.
Besides food poisoning, food neophobia also arises from the person associating a negative experience with new foods, for example suffering from gastroenteritis or other gastrointestinal illnesses after eating undercooked food.
Another environmental factor influencing levels of food neophobia is the current arousal level of the individual. Trying a new food is an arousing experience, and if the person prefers to maintain a lower arousal level in general, then he or she might avoid new foods as a method of managing his or her current arousal level. Also, if people are currently experiencing situations with a lot of novelty and are therefore more aroused, they might be reluctant to try new foods as doing so would increase their arousal level to an uncomfortable level. This example can help explain why Americans visiting a foreign country might be less likely to try a new food item and instead gravitate towards the familiar McDonald's food.
### Treatment[edit]
Some efforts to address this situation, such as pressuring the child to eat a disliked food or threatening punishment for not eating it, tend to exacerbate the problem.[19]
Effective solutions include offering non-food rewards, such as a small sticker, for tasting a new or disliked food, and for parents to model the behavior they want to see by cheerfully eating the new or disliked foods in front of the children.[19]
Exposing someone to a new food increases the chances of liking that food item. However, it is not enough to merely look at a new food. Novel food must be repeatedly tasted in order to increase preference for eating it.[11] It can take as many as 15 tries of a novel food item before a child accepts it. There also appears to be a critical period for lowering later food neophobia in children during the weaning process. The variety of solid foods first exposed to children can lower later food refusal. Some researchers believe that even the food variety of a nursing mother and the consequent variety of flavors in her breastmilk can lead to greater acceptance of novel food items later on in life. Food neophobia does tend to naturally decrease as people age.[18]
## See also[edit]
* List of phobias
* Culture shock
* Cognitive ethology
* Habituation
* Neophilia
* Psychology
* Progress trap
## References[edit]
1. ^ Shim, Jae Eun; Kim, Juhee; Mathai, Rose Ann; STRONG Kids Research, Team. (September 2011). "Associations of Infant Feeding Practices and Picky Eating Behaviors of Preschool Children". Journal of the American Dietetic Association. 111 (9): 1363–1368. doi:10.1016/j.jada.2011.06.410. PMID 21872699.
2. ^ Dovey, Terence M.; Staples, Paul A.; Gibson, E. Leigh; Halford, Jason C.G. (March 2008). "Food neophobia and 'picky/fussy' eating in children: A review". Appetite. 50 (2–3): 181–193. doi:10.1016/j.appet.2007.09.009. PMID 17997196. S2CID 13024205.
3. ^ Perry, Rebecca A; Mallan, Kimberley M; Koo, Jasly; Mauch, Chelsea E; Daniels, Lynne A; Magarey, Anthea M (2015). "Food neophobia and its association with diet quality and weight in children aged 24 months: a cross sectional study". International Journal of Behavioral Nutrition and Physical Activity. 12 (1): 13. doi:10.1186/s12966-015-0184-6. PMC 4335451. PMID 25889280.
4. ^ νέος, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
5. ^ φόβος, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
6. ^ καινός, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
7. ^ Cainophobia, Dictionary.com
8. ^ "The Phobia List".
9. ^ Meddock TD, Osborn DR (May 1968). "Neophobia in wild and laboratory mice". Psychonomic Science. 12 (5): 223. doi:10.3758/BF03331280. ISSN 0033-3131.
10. ^ Lalonde R, Badescu R (1995). "Exploratory drive, frontal lobe function and adipsia in aging". Gerontology. 41 (3): 134–44. doi:10.1159/000213674. PMID 7601365.
11. ^ a b Logue, A.W. (2004). The Psychology of Eating and Drinking. New York: Brunner-Routledge. p. 90.
12. ^ Pliner, P.; K. Hobden (1992). "Development of a scale to measure the trait of food neophobia in humans". Appetite. 19 (2): 105–120. doi:10.1016/0195-6663(92)90014-w. PMID 1489209. S2CID 9530258.
13. ^ a b Alley TR, Potter KA (2011). "Food Neophobia and Sensation Seeking". Handbook of Behavior, Food and Nutrition. Springer. pp. 707–724.
14. ^ Marples, Nicola M.; Kelly, David J.; Thomas, Robert J. (2005). "Perspective: The Evolution of Warning Coloration is Not Paradoxical". Evolution. 59 (5): 933–940. doi:10.1111/j.0014-3820.2005.tb01032.x. ISSN 0014-3820. PMID 16136793. S2CID 24118222.
15. ^ Marples, N.M.; Kelly, D.J. (1999). "Neophobia and Dietary Conservatism:Two Distinct Processes?". Evolutionary Ecology. 13 (7–8): 641–653. doi:10.1023/A:1011077731153. ISSN 0269-7653. S2CID 27737756.
16. ^ Harris HA, Fildes A, Mallan KM, Llewellyn CH (July 2016). "Maternal feeding practices and fussy eating in toddlerhood: a discordant twin analysis". Int J Behav Nutr Phys Act. 13: 81. doi:10.1186/s12966-016-0408-4. PMC 4944306. PMID 27412445.
17. ^ Smith AD, Herle M, Fildes A, Cooke L, Steinsbekk S, Llewellyn CH (February 2017). "Food fussiness and food neophobia share a common etiology in early childhood". J Child Psychol Psychiatry. 58 (2): 189–196. doi:10.1111/jcpp.12647. PMC 5298015. PMID 27739065.
18. ^ a b Dovey, Terence M. (2010). Eating Behaviour. England: Open University Press. pp. 47, 48, 55.
19. ^ a b c d Moyer, Melinda Wenner (19 December 2012). "Picky eater kids: Their eating habits might be your fault, but they'll survive". Slate.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Neophobia | None | 28,762 | wikipedia | https://en.wikipedia.org/wiki/Neophobia | 2021-01-18T18:30:57 | {"wikidata": ["Q1678024"]} |
Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly. Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms may include heart and kidney abnormalities. The severity of symptoms varies from person to person. Because PPS has only been reported in a small number of people, it is not clear how this condition changes with age. PPS is caused by a variant in the B3GLCT gene and is inherited in an autosomal recessive fashion. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms, and may involve surgery to correct the eyes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Peters plus syndrome | c0796012 | 28,763 | gard | https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome | 2021-01-18T17:58:21 | {"mesh": ["C537617"], "omim": ["261540"], "umls": ["C0796012"], "orphanet": ["709"], "synonyms": ["Peters anomaly with short limb dwarfism", "Krause-Kivlin syndrome"]} |
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
Most newborns with Aicardi-Goutières syndrome do not show any signs or symptoms of the disorder. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a shortage of blood cells called platelets that are needed for normal blood clotting (thrombocytopenia), and neurological abnormalities. While this combination of signs and symptoms is typically associated with the immune system's response to a viral infection that is present at birth (congenital), no actual infection is found in these infants. For this reason, Aicardi-Goutières syndrome is sometimes referred to as a "mimic of congenital infection."
Within the first year of life, most individuals with Aicardi-Goutières syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this encephalopathic phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and other immune system molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system.
The encephalopathic phase of Aicardi-Goutières syndrome causes permanent neurological damage that is usually severe. Medical imaging reveals loss of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that protects nerves and insures rapid transmission of nerve impulses. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. As a result of this neurological damage, most people with Aicardi-Goutières syndrome have profound intellectual disability. They also have muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the torso.
Some people with Aicardi-Goutières syndrome have features characteristic of autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own systems and organs. Some of these features overlap with those of another disorder called systemic lupus erythematosus (SLE). A feature of SLE that also occurs in about 40 percent of people with Aicardi-Goutières syndrome is a skin problem called chilblains. Chilblains are painful, itchy skin lesions that are puffy and red, and usually appear on the fingers, toes, and ears. They are caused by inflammation of small blood vessels, and may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers are other features that can occur in both disorders.
As a result of the severe neurological problems usually associated with Aicardi-Goutières syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who develop the condition later or have milder neurological problems live into adulthood.
## Frequency
Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is unknown.
## Causes
Mutations in several genes can cause Aicardi-Goutières syndrome. Several of these genes, the TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes, provide instructions for making nucleases, which are enzymes that help break down molecules of DNA and its chemical cousin RNA when they are no longer needed. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death (apoptosis), and other processes. Mutations in any of these genes are believed to result the absence or abnormal functioning of the respective nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. The unneeded DNA and RNA may be mistaken by cells for the genetic material of viral invaders, triggering immune system reactions in multiple body systems that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome.
Mutations in other genes, including the SAMHD1, IFIH1, and ADAR genes, can also cause Aicardi-Goutières syndrome. These genes provide instructions for making proteins that are involved in the immune system. Mutations in these genes cause inappropriate activation of the body's immune response, resulting in inflammatory damage to the brain, skin, and other body systems that lead to the characteristic features of Aicardi-Goutières syndrome.
### Learn more about the genes associated with Aicardi-Goutières syndrome
* ADAR
* IFIH1
* RNASEH2A
* RNASEH2B
* RNASEH2C
* SAMHD1
* TREX1
## Inheritance Pattern
Aicardi-Goutières syndrome can have different inheritance patterns. In most cases caused by mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes, it 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 IFIH1 gene or by certain severe mutations in the TREX1 or ADAR gene, Aicardi-Goutières syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Aicardi-Goutières syndrome | c0796126 | 28,764 | medlineplus | https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/ | 2021-01-27T08:25:51 | {"gard": ["575"], "mesh": ["C535607"], "omim": ["225750", "610181", "610329", "610333", "612952", "615010", "615846"], "synonyms": []} |
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
## Epidemiology
The prevalence of PNKD is estimated to be 1/1,000,000 worldwide. A male preponderance is observed (1.4:1).
## Clinical description
The age of onset is variable ranging from 1 to 77 years. PNKD is characterized by attacks of spontaneous or induced (by alcohol, caffeine, stress, menstruation, sleep deprivation or exercise) dystonia, chorea, athetosis and ballism in the limbs, face, and trunk lasting from minutes to hours without a change in the level of alertness. The movements can be partial and unilateral, but are mostly bilateral and generalized. The frequency of the attacks varies from 1-3 per day to months of attack-free intervals. Dysarthria and oculogyric crisis can also be observed during episodes of severe attacks. An aura-like sensation (paresthesia, tension in the limbs or dizziness) prior to the onset of the motor manifestations and migraine headaches may be observed. Symptomatic PNKD is most commonly reported in association with multiple sclerosis (see this term) or vascular thalamic lesions.
## Etiology
The pathophysiology of PNKD still remains to be elucidated but approximately 60% of patients exhibit mutations in the PNKD gene (2q35), encoding the PNKD protein (formerly named myofibrillogenesis regulator 1 protein, MR-1). Furthermore, subsequent linkage analysis in a Canadian kindred identified a novel gene locus at chromosome 2q31 (named PNKD2).
## Diagnostic methods
The diagnosis is purely clinical and molecular screening of the PNKD gene can help to confirm the diagnosis.
## Differential diagnosis
Differential diagnosis of PNKD includes: Wilson disease, paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis (ICCA syndrome), paroxysmal exertion-induced dyskinesia (PED), autosomal dominant nocturnal frontal lobe epilepsy, paroxysmal dystonic choreathetosis with episodic ataxia and spasticity, and Huntington disease (see these terms).
## Antenatal diagnosis
Prenatal diagnosis for pregnancies at increased risk of having PNKD mutations associated with familial PNKD is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at 15-18 weeks' gestation) or chorionic villus sampling (usually performed at 10-12 weeks' gestation). The disease-causing mutation of an affected family member must be identified in the family before prenatal testing can be performed.
## Genetic counseling
Although sporadic cases have been reported, PNKD is usually inherited as an autosomal dominant trait with high penetrance. Haplotype analysis in the PNKD2 family demonstrated a disease penetrance of 89%.
## Management and treatment
PNKD patients do not respond to antiepileptic drugs such as carbamazepine, but clonazepam or other benzodiazepines can be helpful in some PNKD mutation carrier patients. Because PNKD may be triggered by emotional stress, fatigue, alcohol or caffeine, the avoidance of these possible precipitating factors is recommended. Deep brain stimulation may act as a potential therapeutic option in medically refractory PNKD.
## Prognosis
No long-term sequelae are associated with PNKD. Moreover, 61% of patients with PNKD show a tendency to decrease the frequency of their attacks with age. However, in some patients, episodes may remain unchanged or worsen with age. Disappearance of attacks during pregnancy has also been described.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Paroxysmal non-kinesigenic dyskinesia | c1869117 | 28,765 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98810 | 2021-01-23T17:54:55 | {"gard": ["8722"], "mesh": ["C537181"], "omim": ["118800", "611147"], "umls": ["C1869117"], "icd-10": ["G24.8"], "synonyms": ["Paroxystic non-kinesigenic choreoathetosis"]} |
Al-Raqad syndrome
Other namesARS
Al-Raqad syndrome is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad. It's characterized by:
* Microcephaly
* Growth delay
* Psycho-motor developmental delay
* Congenital hypotonia.
Al-Raqad syndrome is caused by mutation of DCPS gene.[1]
## References[edit]
1. ^ "OMIM Entry - # 616459 - AL-RAQAD SYNDROME; ARS". www.omim.org. Retrieved 2017-11-19.
## External links[edit]
* NCBI
* MalaCards: The human disease database
* The Universal Protein Resource (UniProt)
Classification
D
* OMIM: 616459
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Al-Raqad syndrome | c4085595 | 28,766 | wikipedia | https://en.wikipedia.org/wiki/Al-Raqad_syndrome | 2021-01-18T18:41:32 | {"umls": ["C4085595"], "wikidata": ["Q28936239"]} |
Emanuel syndrome
Other namesderivative 22 syndrome, der(22) syndrome
Chromosome 11 (left) and 22 (right) are both involved in causing the syndrome, due to extra genetic material.
Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects.[1][2] It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. An unbalanced translocation between chromosomes 11 and 22 is described as Emanuel syndrome. It was first described in 1980 by American medical researchers Beverly S. Emanuel and Elaine H. Zackai as well as a consortium of European scientists the same year.[3][4]
## Contents
* 1 Sign and symptoms
* 2 Causes
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 Further reading
* 8 External links
## Sign and symptoms[edit]
Microcephaly
Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive).[1] Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits, or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects[5] and absent or unusually small (hypoplastic) kidneys;[3] these problems can be life-threatening in infancy or childhood.[1]
## Causes[edit]
Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22, or der(22), chromosome.[6]
## Genetics[edit]
People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. As this translocation is passed to the next generation, it can become unbalanced. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22 and extra genetic material from the der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.[6]
## Diagnosis[edit]
Emanuel syndrome can be diagnosed with a karyotype, FISH or a chromosomal microarray analysis.[3]
## Treatment[edit]
Emanuel syndrome does not have a cure, but individual symptoms may be treated. Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic and neurological, may be necessary to determine the extent of impairment and options for treatment.[citation needed]
## References[edit]
1. ^ a b c Reference, Genetics Home. "Emanuel syndrome". Genetics Home Reference. Retrieved 2017-02-24.
2. ^ "Emanuel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-02-25.
3. ^ a b c Emanuel, Beverly S.; Zackai, Elaine H.; Medne, Livija (1993). "Emanuel Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301440. NBK1263.
4. ^ "What is Emanuel Syndrome?". www.emanuelsyndrome.org. Retrieved 2018-03-05.
5. ^ McDonald-McGinn DM, Hain HS, Emanuel BS, et al. (1993–2020). "22q11.2 Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, et al. (eds.). GeneReviews® [Internet]. University of Washington. PMID 20301696. NBK1523.
6. ^ a b "Chromosome 22". Genetics Home Reference. U.S. National Library of Medicine. 2016.
## Further reading[edit]
* "Chromosome 11". Genetics Home Reference. U.S. National Library of Medicine. 2016.
## External links[edit]
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D
* OMIM: 609029
* MeSH: C535733
* DiseasesDB: 34403
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Emanuel syndrome | c1836929 | 28,767 | wikipedia | https://en.wikipedia.org/wiki/Emanuel_syndrome | 2021-01-18T18:28:05 | {"gard": ["9835"], "mesh": ["C535733"], "umls": ["C1836929"], "orphanet": ["96170"], "wikidata": ["Q5369177"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 (266600).
Mapping
Satsangi et al. (1996) found that D6S276, adjacent to the major histocompatibility complex (MHC; see 142800), provided no evidence for linkage with Crohn disease or inflammatory bowel disease overall, but a distortion in allele sharing for sibs with ulcerative colitis was observed. In general, their data suggested that Crohn disease and ulcerative colitis are closely related, but distinct, polygenic disorders that share some, but not all, susceptibility genes.
In a genomewide linkage scan involving 268 IBD families of northern European descent containing 353 affected sib pairs, Hampe et al. (1999) found suggestive linkage to the MHC locus on chromosome 6, with a maximum multipoint lod score of 2.07 obtained in a region defined by markers D6S289 and D6S276.
Hampe et al. (1999) reported on a 2-stage linkage and association analysis of both a basic population of 353 affected sib pairs and an extension of this population to 428 white affected sib pairs of northern European extraction. Genotyping 28 microsatellite markers on chromosome 6, they found a peak multipoint lod score of 4.2 at D6S461 for the IBD phenotype. A transmission/disequilibrium test (TDT) result of P = 0.006 was detected for D6S426 in the basic population and was confirmed in the extended cohort. The subphenotypes of Crohn disease, ulcerative colitis, and mixed IBD contributed equally to this linkage, suggesting a general role for the chromosome 6 locus in IBD. Analysis of 5 single-nucleotide polymorphisms in the TNFA (TNF; 191160) and LTA (153440) genes, both located at 6p21.3, did not reveal evidence for association of these candidate genes with IBD.
Koss et al. (2000) found that women but not men with extensive colitis compared to distal colitis were significantly more likely (31% vs 12%; p = 0.028) to bear the -308G-A promoter polymorphism of the TNF gene (191160.0004). The association was even stronger (56% vs 21%; p = 0.0007) in women who also had an A rather than a C at position 720 in the LTA gene (153440). These polymorphisms were also associated with significantly higher TNF production in patients with Crohn disease, while an A instead of a G at position -238 in the TNF gene was associated with lower production of TNF in patients with ulcerative colitis.
Ruuls and Sedgwick (1999) reviewed the problem of unlinking TNF biology from that of the MHC. Dysregulation and, in particular, overproduction of TNF have been implicated in a variety of human diseases, including Crohn disease, and the TNF gene is considered a candidate predisposing gene. However, unraveling the importance of genetic variation in the TNF gene to disease susceptibility or severity is complicated by its location within the MHC, a highly polymorphic region that encodes numerous genes involved in immunologic responses. Ruuls and Sedgwick (1999) reviewed studies that had analyzed the contribution of TNF and related genes to susceptibility to human disease, and they discussed how the presence of the TNF gene within the MHC may potentially complicate the interpretation of studies in animal models in which the TNF gene is experimentally manipulated.
Dechairo et al. (2001) conducted a replication study on the chromosome 6p region. Ten microsatellite markers across the region were genotyped in 284 IBD-affected sib pairs from 234 UK Caucasian families. A nonparametric peak multipoint lod score of 3.04 was detected near D6S291, thus replicating the previous linkage to chromosome 6p. There was almost equal contribution from Crohn disease and ulcerative colitis sib pairs to the linkage. As the IBD3 region overlaps with the MHC region, Dechairo et al. (2001) suggested that an MHC autoimmune susceptibility gene may be responsible for the positive linkage results.
Sashio et al. (2002) investigated the role of polymorphisms of the TNF gene and the TNFRSF1B gene in susceptibility to inflammatory bowel disease. They investigated 124 patients with Crohn disease, 106 patients with ulcerative colitis, and 111 unrelated healthy controls. They examined 2 SNPs of the TNFA gene, -308G-A and -238G-A, and found a difference in the carrier frequency for haplotype AG (-308A, -238G) between ulcerative colitis patients and the controls (odds ratio, 4.76).
Fisher et al. (2002) investigated the role of sex-specific loci in susceptibility to IBD. In a total of 428 European affected sib pairs genotyped with markers in the major histocompatibility region on chromosome 6p, nuclear families were stratified according to the sex of affected individuals and lod scores were calculated for male and female affected families. The highest lod score for IBD occurred at chromosome region 6p21.3, where linkage was identified in male affected families only (maximum multipoint lod score of 5.91), with evidence for linkage in both Crohn disease and ulcerative colitis phenotypes. Fisher et al. (2002) suggested that the hormonal differences between males and females could lead to differential expression of disease susceptibility genes in males and females.
Van Heel et al. (2002) stated that TNF expression is increased in IBD and showed by transmission disequilibrium and case-control analyses that in 2 independent Caucasian cohorts, a novel association of the TNF-857C promoter polymorphism with IBD was evident (overall P = 0.001 in 587 IBD families). Further genetic associations of TNF-857C with IBD subphenotypes were seen for ulcerative colitis and for Crohn disease, but only in patients not carrying common NOD2 (605956) mutations. These data suggested a recessive model of inheritance. The transcription factor OCT1 (602607) binds TNF-857T but not TNF-857C, and interacts in vitro and in vivo with the proinflammatory NFKB p65 subunit RELA (164014) at an adjacent binding site. The authors hypothesized that interaction of these transcription factors with specific alleles of TNF in gut tissue may be relevant to the pathogenesis of IBD.
Van Heel et al. (2004) obtained genome scan data (markers, significance scores) from 10 separate IBD studies and performed metaanalysis using the genome scan metaanalysis (GSMA) method. The studies comprised 1,952 inflammatory bowel disease, 1,068 Crohn disease, and 457 ulcerative colitis affected relative pairs. Study results were divided into 34-cM chromosomal bins, ranked, weighted by study size, summed across studies and bin-by-bin significance obtained by simulation. A region on chromosome 6p containing the HLA region met genomewide significance for inflammatory bowel disease.
In a case-control study of 304 Australian patients with Crohn disease and 231 healthy controls, Fowler et al. (2005) analyzed 2 polymorphisms in the TNF gene and 2 polymorphisms in the IL10 gene (124092) on chromosome 1q31-q32 (see IBD23, 612381). They found a significant association of the higher-producing IL10 -1082G and TNF -857C alleles with stricturing disease; the association was strongest when these alleles were combined and persisted after multivariate analysis. Fowler et al. (2005) concluded that these 2 SNPs may help to predict disease behavior in Crohn disease patients.
Using a staged experimental design involving 1,841 ulcerative colitis cases and 1,470 controls, Fisher et al. (2008) found that multiple MHC markers showed strong association with ulcerative colitis in the first stage, with a peak (p = 4.7 x 10(-8)) around rs6927022 in a 400-kb haplotype block containing the BTNL2 gene (606000) and the HLA loci HLA-DQA1 (146880), HLA-DRA (142860), HLA-DRB5 (604776), and HLA-DRB1 (142857). Clear residual association with a SNP within the BTNL2 gene (rs9268480; p = 0.0036) suggested contribution of that gene or another in linkage disequilibrium with it.
Franke et al. (2008) conducted a genomewide association study involving 440,794 SNPs genotyped in 1,167 ulcerative colitis patients and 777 healthy controls, followed by testing for replication of the 20 most significantly associated SNPs in 3 independent European case-control panels comprising a total of 1,855 ulcerative colitis patients and 3,091 controls. Three SNPs near the HLA class II genes on chromosome 6p21, rs9268877, rs9268858, and rs9268480, were significantly associated with ulcerative colitis (combined p = 6.48 x 10(-18), 2.58 x 10(-12), and 3.15 x 10(-9), respectively).
McGovern et al. (2010) combined new data from 2 genomewide association studies of ulcerative colitis involving 266,047 SNPs and performed a metaanalysis with previously published data (Silverberg et al., 2009), thus bringing together a discovery set of 2,693 European UC patients and 6,791 controls. McGovern et al. (2010) confirmed association with UC at rs2395185 (combined p = 8.8 x 10(-23)).
INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Regional enteritis \- Ulcerative colitis \- Mixed inflammatory bowel disease ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| INFLAMMATORY BOWEL DISEASE 3 | c1858303 | 28,768 | omim | https://www.omim.org/entry/604519 | 2019-09-22T16:11:55 | {"mesh": ["C565764"], "omim": ["604519"]} |
Hyperproinsulinemia
This condition is inherited in an autosomal dominant manner.
Hyperproinsulinemia is a disease where insulin is not sufficiently processed before secretion[1] and immature forms of insulin make up the majority of circulating insulin immunoreactivity in both fasting and glucose-stimulated conditions (insulin immunoreactivity refers to all molecules detectable by an insulin antibody, i.e. insulin, proinsulin, and proinsulin-like material). The term is composed of hyper \- high, proinsulin \- immature insulin molecule, and -emia \- blood condition.
Hyperproinsulinemia is more frequent in type 2 diabetes. It has been attributed to either a direct β-cells defect or an indirect effect of cell dysregulation under sustained elevated blood glucose (hyperglycemia).
Some alleles of insulin can cause hyperproinsulinemia (see table 2: monogenic forms of type 1 diabetes, INS (insulin). For a more detailed descriptions of the insulin gene variations leading to hyperproinsulinemia see NCBI's OMIM 176730
## References[edit]
1. ^ Dhanvantari S, Shen FS, Adams T, et al. (September 2003). "Disruption of a receptor-mediated mechanism for intracellular sorting of proinsulin in familial hyperproinsulinemia". Mol. Endocrinol. 17 (9): 1856–67. doi:10.1210/me.2002-0380. PMID 12829804.
## External links[edit]
Classification
D
* OMIM: 616214
* MeSH: C562776
* v
* t
* e
Disorders of translation and posttranslational modification
Translation
* Ribosome: Diamond–Blackfan anemia
* FMR1
* Fragile X syndrome
* Fragile X-associated tremor/ataxia syndrome
* Premature ovarian failure 1
* Initiation factor: Leukoencephalopathy with vanishing white matter
* snRNP: Retinitis pigmentosa 33
Posttranslational modification
Protein folding
* Alzheimer's disease
* Huntington's disease
* Creutzfeldt–Jakob disease
* chaperonins: 3-Methylglutaconic aciduria 5
Protein targeting
* I-cell disease
Ubiquitin
* E1: X-linked spinal muscular atrophy 2
* E3: Johanson–Blizzard syndrome
* Von Hippel–Lindau disease
* 3-M syndrome
* Angelman syndrome
* Deubiquitinating enzyme: Machado–Joseph disease
* Aneurysmal bone cyst
* Multiple familial trichoepithelioma 1
SUMO
* OFC10
Other
* Multiple sulfatase deficiency
* Hyperproinsulinemia
* Ehlers–Danlos syndrome 6
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hyperproinsulinemia | c0342283 | 28,769 | wikipedia | https://en.wikipedia.org/wiki/Hyperproinsulinemia | 2021-01-18T18:28:04 | {"mesh": ["C562776"], "umls": ["C0342283"], "wikidata": ["Q5958530"]} |
Sneddon syndrome is a rare, progressive condition that affects blood vessels. It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; dizziness; high blood pressure; and heart disease. Reduced blood flow to the brain may cause reduced intellectual ability, memory loss, personality changes, and/or other neurological symptoms. The cause of Sneddon syndrome is often unknown, but it is sometimes associated with an autoimmune disease. Most cases are sporadic but some familial cases with autosomal dominant inheritance have been reported. Some researchers separate Sneddon syndrome into two different types depending on whether an underlying cause has been identified (primary versus idiopathic), while others suggest a classification based on whether certain symptoms of autoimmune disease are present or not (aPL-positive versus aPL negative). Treatment usually involves anticoagulation (blood-thinning) with warfarin, and/or the use of other medications.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sneddon syndrome | c0282492 | 28,770 | gard | https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome | 2021-01-18T17:57:40 | {"mesh": ["D018860"], "omim": ["182410"], "umls": ["C0282492"], "orphanet": ["820"], "synonyms": ["Sneddon's syndrome", "Livedo reticularis and cerebrovascular accidents", "Cerebro-vascular lesions and livedo reticularis", "Ehrmann-Sneddon syndrome", "Livedo racemosa and cerebrovascular accidents", "Livedo racemosa-cerebrovascular accident syndrome", "Livedo reticularis-cerebrovascular accident syndrome"]} |
A Spigelian is the type of ventral hernia where aponeurotic fascia pushes through a hole creating a bulge. It appears in the abdomen lower quadrant between an area of dense fibrous tissue and abdominal wall muscles causing a (Spigelian aponeurosis)[1]
It is the protuberance of, omentum, adipose or bowel in that weak space between the stomach muscles, that ultimately pushes the intestines or superficial fatty tissue through a hole causing a defect. As a result, it creates the movement of an organ or a loop of intestine in the weakened body space that it is not supposed to be in. It is at this separation (aponeurosis) in the ventral abdominal region, that herniation most commonly occurs.
Spigelian hernia
Other namesLateral ventral hernia
Transverse CT image of the abdomen in a patient with a Spigelian hernia (arrow).
SpecialtyGeneral surgery
Spigelian hernias are rare compared to other types of hernias because they do not develop under abdominal layers of fat but between fascia tissue that connects to muscle. The Spigelian hernia is generally smaller in diameter, typically measuring 1–2 cm., and the risk of tissue becoming strangulated is high.
Photograph by AfroBrazilian, distributed under a CC BY-SA 3.0 license.
Laparoscopic Hernia Surgery
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Eponym
* 5 Raveenthiran syndrome
* 6 References
* 7 External links
## Signs and symptoms[edit]
Individuals typically present with either intermittent pain (coming and going), a lump, or mass all which are classic signs of a bowel obstruction.[2] The patient may have a protuberance when standing in an upright position although discomfort can sometimes be confused by its anatomical region for a peptic ulceration.[3] The bulge may be painful when the patient stretches but then goes away when they are lying down in a resting position.[4] However, a number of patients present with no obvious symptoms but vague tenderness along the area in which the Spigelian fascia is located.[5]
## Diagnosis[edit]
Ultrasound Imaging or a CT Scan will provide better imaging for the detection of a hernia than an xray.[6] The diagnosis of a Spigelian hernia is traditionally difficult if only given a history and physical examination.[7] People who are good candidates for elective Spigelian hernia surgery, not only but also, after receiving an initial diagnostic consultation by a licensed medical professional, will be advised to see a physician to schedule surgery.
## Treatment[edit]
The Spigelian hernia can be repaired by either an open procedure or laproscopic surgery because of the high risk of strangulation;[8] surgery is straightforward, with only larger defects requiring a mesh prosthesis. In contrast to the laparoscopic intraperitoneal onlay mesh plan of action there is a significant higher risk associated with complications and recurrence rates during the period following a surgical operation.[9] A Spigelian hernia becomes immediately operative once the risk of incarceration is confirmed.[10] Today, a Spigelian hernia can be repaired by doing robotic laparoscopy and most patients can go home the same day. This novel uncomplicated approach to small Spigelian hernias combines the benefits of laparoscopic localization, reduction, and closure without the morbidity and cost associated with foreign material.[11] Mesh-free laparoscopic suture repair is an uncomplicated approach to small Spigelian hernias combined with the benefits of a closure without the anguish and cost associated with foreign material.[6]
## Eponym[edit]
Adriaan van den Spiegel, born in Brussels, was an anatomist at the University of Padua during the 17th century. In 1619 he became a professor of surgery. Spiegel was the first to described this rare hernia in 1627.[12] The history of the Spigelian hernia became acknowledged in 1645, twenty years after Spiegel's death. In 1764, almost a century later, the Flemish anatomist, Josef Klinkosch was acknowledged for recognizing and describing a hernia located in the Spigelian fascia, and coined the term Spigelian hernia.[13]
## Raveenthiran syndrome[edit]
Dr. Raveenthiran described a new syndrome in which Spigelian hernia and cryptorchidism (undescended testis) occur together.[14] Some common complications of this distinct syndrome cryptorchidism are testicular torsion, and its link to testicular cancer.[15]
## References[edit]
1. ^ Skandalakis, PN; Zoras, O (2006-12-01). "Spigelian hernia: surgical anatomy, embryology, and technique of repair". The American Surgeon. 72 (1): 42–8. doi:10.1177/000313480607200110. PMID 16494181. S2CID 26111951.
2. ^ Larson, David W.; Farley, David R. (2002-10-01). "Spigelian Hernias: Repair and Outcome for 81 Patients". World Journal of Surgery. 26 (10): 1277–1281. doi:10.1007/s00268-002-6605-0. ISSN 1432-2323. PMID 12205553. S2CID 24674266.
3. ^ Mittal, T; Kumar, V; Sharma, R; Soni, V; Baijal, M; Chowbey, P.K. (2008). "Diagnosis and management of Spigelian Hernia: A review of literature and our experience". Journal of Minimal Access Surgery. 4 (4): 95–98. doi:10.4103/0972-9941.45204. PMC 2699222. PMID 19547696.
4. ^ Zucker, Benjamin; Malietzis, George; Kontovounisios, Christos (2017-10-01). "An Unexpected Cause of Acute Abdomen". Gastroenterology. 153 (4): e4–e5. doi:10.1053/j.gastro.2017.01.057. ISSN 0016-5085. PMID 28881194.
5. ^ Light, D; Chattopadhyay, D; Bawa, S (2013). "Radiological and clinical examination in the diagnosis of Spigelian hernias". Annals of the Royal College of Surgeons of England. 95 (2): 98–100. doi:10.1308/003588413X13511609957092. ISSN 0035-8843. PMC 4098597. PMID 23484989.
6. ^ a b Bittner JG, Edwards MA, Shah MB, MacFadyen BV, Mellinger JD (August 2008). "Mesh-free laparoscopic spigelian hernia repair". The American Surgeon. 74 (8): 713–20, discussion 720. doi:10.1177/000313480807400808. PMID 18705572. S2CID 31085191.
7. ^ Tom, SK; Tom, TN (2019). "Laparoscopic Repair of Right Spigelian Hernia and Umbilical Hernia. - PubMed - NCBI". The American Surgeon. 85 (5): e268–e270. doi:10.1177/000313481908500514. ISSN 1555-9823. PMID 31126386. S2CID 174813338.
8. ^ Vos DI, Scheltinga MR (2004). "Incidence and outcome of surgical repair of spigelian hernia". The British Journal of Surgery. 91 (5): 640–4. doi:10.1002/bjs.4524. PMID 15122618.
9. ^ Köckerling, Ferdinand; Lammers, Bernhard (2018-10-23). "Open Intraperitoneal Onlay Mesh (IPOM) Technique for Incisional Hernia Repair". Frontiers in Surgery. 5: 66. doi:10.3389/fsurg.2018.00066. ISSN 2296-875X. PMC 6206818. PMID 30406110.
10. ^ Mhatre, Hemant Panditrao; Kanake, Vijay Bhaskarrao; Nandu, Vipul Versi (2016-12-14). "Spigelian hernia: a rare case presentation". International Surgery Journal. 2 (4): 717–720. doi:10.18203/2349-2902.isj20151112. ISSN 2349-2902.
11. ^ Bittner, James G. IV (2010-10-02). "Mesh-free Laparoscopic Repair of Small Spigelian Hernias". Surgical Laparoscopy Endoscopy & Percutaneous Techniques. 20 (1): 63–64. doi:10.1097/SLE.0b013e3181cb842c. ISSN 1530-4515. PMID 20173625.
12. ^ Ghosh, Sanjib Kumar; Sharma, Suranjali; Biswas, Sudipa; Chakraborty, Soumya (2014). "Adriaan van den Spiegel (1578–1625): Anatomist, physician, and botanist". Clinical Anatomy. 27 (7): 952–957. doi:10.1002/ca.22414. ISSN 1098-2353. PMID 24811238.
13. ^ Uchiyama, Kiichiro (1998). "Reports on Experiments Kilchiro and Clinical Cases". Spigelian Hernia: Case Study.
14. ^ Raveenthiran V (Dec 2005). "Congenital Spigelian hernia with cryptorchidism: probably a new syndrome". Hernia. 9 (4): 378–80. doi:10.1007/s10029-005-0316-z. PMID 15782280. S2CID 28058188.
15. ^ Kariappa, Mohan Kumar; Vivek, Harihar (2016). "Pantaloon Hernia: Obstructed indirect Component and Direct Component with Cryptorchidism". Case Reports in Surgery. 2011: 1461425. doi:10.1155/2016/1461425. PMC 4989057. PMID 27579208.
## External links[edit]
* Adriaan van den Spiegel at Who Named It?
* Laparoscopic Repair of Spigelian Hernia Medtube
* 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
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* 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
Classification
D
* ICD-10: K43.9
* ICD-9-CM: 553.29
Wikimedia Commons has media related to Spigelian hernia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Spigelian hernia | c0392508 | 28,771 | wikipedia | https://en.wikipedia.org/wiki/Spigelian_hernia | 2021-01-18T19:04:37 | {"icd-9": ["553.29"], "icd-10": ["K43.9"], "wikidata": ["Q2066669"]} |
Visible growth caused by carpometacarpal bossing.
Carpal boss VR-3D-Reconstruction
Carpometacarpal bossing (or metacarpal/carpal bossing) is a small, immovable mass of bone on the back of the wrist. The mass occurs in one of the joints between the carpus and metacarpus of the hand, called the carpometacarpal joints, where a small immovable protuberance[1] occurs when this joint becomes swollen or bossed.
The joint between the index metacarpal and the capitate is a fibrous non-mobile joint. Some people have a gene that leads to this growth. It looks like arthritis (bone spurs on each side of the joint) on X-ray. It looks like a ganglion on the hand, but more towards the fingertips.
## Contents
* 1 Clinical significance
* 2 Additional images
* 3 References
* 4 External links
## Clinical significance[edit]
The carpometacarpal joint is usually found at the base of the second and third metacarpal bones at the point where they meet the small bones of the wrist.[2]
Bosses are usually painless and will never cause more than a slight ache. They tend to be of manageable size, but on occasion the extensor tendons can slide over the bump, which can be annoying. Sometimes there is a ganglion cyst along with the boss.
Often, this condition will be mistaken for a ganglion cyst because of its location and external appearance.
Carpometacarpal boss is uncommon and there is not much scientific data. Its etiology has yet to be fully defined, but can be congenital in the form of an accessory ossicle (os styloideum) or may be acquired from trauma, repetitive use, or degenerative osteophytosis.[3] The condition usually begins to show in the 3rd or 4th decade.[citation needed]
## Additional images[edit]
* Micro-radiography of 8 weeks human embryo hand
* Second metacarpal bone
* Third metacarpal bone
* Carpal boss in plain X-Ray.
* Carpal boss in CT.
## References[edit]
1. ^ Conway, William F.; et al. (1984). "The Carpal Boss: An Overview of Radiographic Evaluation" (PDF). Radiology. 156 (1): 29–31. doi:10.1148/radiology.156.1.3923555. PMID 3923555. Retrieved 27 July 2020.[permanent dead link]
2. ^ Walker, Lorenzo G. "Carpometacarpal Boss". The Hand Center of Ventura County. Archived from the original on 2009-06-08. Retrieved 27 July 2020.
3. ^ Conway, W.F. "The carpal boss: an overview of radiographic evaluation". Radiological Society of North American. Retrieved April 13, 2020.
## External links[edit]
Wikimedia Commons has media related to Carpal boss.
* Mennen, Ulrich (May 2004). ""Bossing" of the second and third Carpo-Meta-Carpal joint". Electronic Doctor. Retrieved February 2010. Check date values in: `|access-date=` (help)
* About.com: Orthopedics - Bossing
* Carpal Boss: An Overview of Radiographic Evaluation[permanent dead link]
* Electronic Doctor
* eMedicine from WebMD
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Carpometacarpal bossing | c1861847 | 28,772 | wikipedia | https://en.wikipedia.org/wiki/Carpometacarpal_bossing | 2021-01-18T18:33:03 | {"umls": ["C1861847"], "wikidata": ["Q1044705"]} |
Idiopathic facial aseptic granuloma
SpecialtyDermatology
Idiopathic facial aseptic granuloma is a cutaneous condition characterized by a chronic, painless, solitary nodule, reminiscent of an acne nodule, appearing on the cheeks of young children.[1]:502 It has a prolonged course, but spontaneously heals.[2]
## See also[edit]
* Granulomatous facial dermatitis
* 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. ^ Boralevi, F.; Léauté-Labrèze, C.; Lepreux, S.; Barbarot, S.; Mazereeuw-Hautier, J.; Eschard, C.; Taïeb, A. (April 2007). "Idiopathic facial aseptic granuloma: a multicentre prospective study of 30 cases". British Journal of Dermatology. 156 (4): 705–708. doi:10.1111/j.1365-2133.2006.07741.x. PMID 17493068.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Idiopathic facial aseptic granuloma | None | 28,773 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_facial_aseptic_granuloma | 2021-01-18T18:53:24 | {"wikidata": ["Q5988873"]} |
HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures. Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG's may also be recommended when seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HHV-6 encephalitis | c1955629 | 28,774 | gard | https://rarediseases.info.nih.gov/diseases/9667/hhv-6-encephalitis | 2021-01-18T18:00:00 | {"mesh": ["C538117"], "umls": ["C1955629"], "synonyms": ["Human Herpesvirus 6 encephalitis", "Variant A or HHV-6A", "Variant B or HHV-6B"]} |
Human disease
Septicemic plague
Other namesSepticaemic plague
Septicemic plague resulting in necrosis
SpecialtyInfectious disease
Septicemic plague is one of the three main forms of plague. It is caused by Yersinia pestis, a gram-negative species of bacterium. Septicemic plague is a life-threatening infection of the blood, most commonly spread by bites from infected fleas.
Like some other forms of gram-negative sepsis, septicemic plague can cause disseminated intravascular coagulation, and is almost always fatal when untreated. However, it only occurs in a minority of cases of Yersinia infection. It is the rarest and most serious of the three plague varieties; the other forms are bubonic and pneumonic plague.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Transmission
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 Other animals
* 10 References
## Signs and symptoms[edit]
The usual symptoms are:[1][2]
* Abdominal pain
* Bleeding under skin due to blood clotting problems
* Bleeding from mouth, nose or rectum
* Gastrointestial symptoms, including Nausea, Vomiting, which can be with Blood and Diarrhea
* Fever
* Chills
* Low blood pressure
* Organ failure
* Shock
* Death of tissue (gangrene) causing blackening in extremities, mostly fingers, toes and nose
* Difficulty breathing
However, septicemic plague may cause death before any symptoms occur. Also, the above symptoms are common to many human illnesses and are not considered diagnostic of any form of plague.
## Cause[edit]
### Transmission[edit]
Human Yersinia infections most commonly result from the bite of an infected flea or occasionally an infected mammal, but like most bacterial systemic diseases, the disease may be transmitted through an opening in the skin or by inhaling infectious droplets of moisture from sneezes or coughs. In both cases septicemic plague need not be the result, and in particular, not the initial result, but it occasionally happens that bubonic plague for example leads to infection of the blood, and septicemic plague results. If the bacteria happen to enter the bloodstream rather than the lymph or lungs, they multiply in the blood, causing bacteremia and severe sepsis. In septicemic plague, bacterial endotoxins cause disseminated intravascular coagulation (DIC), where tiny blood clots form throughout the body, commonly resulting in localised ischemic necrosis, tissue death from lack of circulation and perfusion.
DIC results in depletion of the body's clotting resources, so that it can no longer control bleeding. Consequently, the unclotted blood bleeds into the skin and other organs, leading to red or black patchy rash and to hematemesis (vomiting blood) or hemoptysis (coughing up blood). The rash may cause bumps on the skin that look somewhat like insect bites, usually red, sometimes white in the center.
Septicemic plague is caused by horizontal and direct transmission.[3] Horizontal transmission is the transmitting of a disease from one individual to another regardless of blood relation. Direct transmission occurs from close physical contact with individuals, through common air usage, from direct bite from a flea or an infected rodent. Most common rodents may carry the bacteria and so may Leporidae such as rabbits:
Significant carriers of the bacteria in the United States include:
* Rats
* Prairie dogs
* Squirrels
* Chipmunks
* Rabbits
The bacteria are cosmopolitan, mainly in rodents in all continents except Australia and Antarctica. The greatest frequency of human plague infections occur in Africa. The bacteria most commonly appear in rural areas and wherever there is poor sanitation, overcrowding, and high rodent populations in urban areas. Outdoor activities such as hiking, camping, or hunting where plague-infected animals may be found, increase the risk of contracting septicemic plague, and so do certain occupations such as veterinary or other animal-related work.[1]
## Diagnosis[edit]
A doctor or veterinarian will perform a physical exam which includes asking about the medical history and possible sources of exposure.[4] The following possible test could include:
* Blood samples (detecting antibodies)
* Culture samples of body fluids (check for the bacteria Yersinia pestis)
* Kidney and liver testing
* Checking lymphatic system for signs of infection
* Examining body fluids for abnormal signs
* Checking for swelling
* Checking for signs of dehydration
* Checking for fever
* Checking for lung infection[5]
## Prevention[edit]
The following steps and precautions should be used to avoid infection of the septicemic plague:[1][5]
* Caregivers of infected patients should wear masks, gloves, goggles and gowns
* Take antibiotics if close contact with infected patient has occurred
* Use insecticides throughout house
* Avoid contact with dead rodents or sick cats
* Set traps if mice or rats are present around the house
* Do not allow family pets to roam in areas where plague is common
* Flea control and treatment for animals (especially rodents)
## Treatment[edit]
Starting antibiotics early is a first step in treating septicemic plague in humans. One of the following antibiotics may be used:
* Streptomycin
* Gentamicin
* Tetracycline or Doxycycline
* Chloramphenicol
* Ciprofloxacin
Lymph nodes may require draining and the patient will need close monitoring.[1]
In animals, antibiotics such as tetracycline or doxycycline can be used. Intravenous drip may be used to assist in dehydration scenarios. Flea treatment can also be used. In some cases euthanasia may be the best option for treatment and to prevent further spreading.[5]
## Prognosis[edit]
Untreated septicemic plague is almost always fatal. Early treatment with antibiotics reduces the mortality rate to between 4 and 15 percent. Death is almost inevitable if treatment is delayed more than about 24 hours, and some people may even die on the same day they present with the disease.
## Epidemiology[edit]
Main article: Epidemiology of plague
In 2015, Taylor Gaes, a 16-year-old in Larimer County in northern Colorado, contracted septicemic plague and subsequently died after being bitten by a flea that had bitten a rodent on his family's rural property.[6] Only three people in Colorado had contracted the bacteria in the previous thirty years.[7]
## History[edit]
Septicemic plague was the least common of the three plague varieties that occurred during the Black Death from 1348 to 1350[8] (the other two being bubonic plague and pneumonic plague). Like the others, septicemic plague spread from the East through trade routes on the Black Sea and down to the Mediterranean Sea.
Major port cities such as Venice and Florence were hit the hardest. The massive loss of working population in Europe following the Black Death, resulting in increased economic bargaining power of the serf labour force, was a major precipitating factor for the Peasants' Revolt of 1381.
## Other animals[edit]
Septicemic plague is a zoonosis,[9] a disease that generally is acquired by humans from animals, such as rodents and carnivores. Goats, sheep and camels also may carry the bacteria. Cats rarely develop clinical signs but can be infected. Areas west of the Great Plains of North America are one region where plague-infected animals commonly occur. Plague-infested animals are found in many other countries as well, especially in developing countries where health controls are not effective.
Animals that commonly carry plague bacteria are largely rodents and Leporidae, but carnivores sometimes also become infected by their prey. Prey animals are not immune to the disease, and outbreaks of various strains of plague, such as sylvatic plague, have on occasion devastated populations of black-tailed prairie dogs and black-footed ferrets.[10]
Plague has been active in black-tailed prairie dog populations since the 1960s. In the United States outbreaks only occur in the western States and they are devastating, with mortality rates near 100% because the animals have no immunity to the plague. Survivors are the ones that happened not to become infected and colonies that recover from a plague outbreak remain at risk.[11]
Because black-footed ferrets prey on black-tailed prairie dogs, wild ferret populations also fall victim to sylvatic plague. An outbreak can kill nearly 100% of ferrets in a population, and surviving ferrets commonly face starvation because the prairie dogs are their main prey. Spray-and-vaccinate campaigns have aimed at preventing the spread of the plague among these animals.[12]
Similar septicemic problems occurs in many countries across the world, especially in developing countries where spending on health systems is very low and health controls are not effective.
## References[edit]
1. ^ a b c d e Plague, MayoClinic, retrieved 2013-10-22
2. ^ Medline Plus - Plague, NIH, retrieved 2011-03-24
3. ^ Wobeser, Gary A. (2006). Essentials of Disease in Wild Animals. Oxford: Blackwell Publishing. ISBN 978-0-8138-0589-4.
4. ^ Plague, NYMedicalCenter, archived from the original on 2013-10-23, retrieved 2013-10-22
5. ^ a b c Plague in Cats, petMD, retrieved 2013-10-22
6. ^ "Taylor Gaes dead: Plague kills Colorado high school student". NewsComAu. 2015-06-21.
7. ^ Peter Holley (21 June 2015). "Star teenage athlete dies after flu symptoms turn out to be plague". Washington Post.
8. ^ History Learning Site - Black Death of 1348 to 1350, History Learning Site, retrieved 2011-06-06
9. ^ Plague facts, AVMA, retrieved 2013-10-22
10. ^ Ecology and Transmission, CDC, retrieved 2013-11-14
11. ^ Plague and Black-tailed Prairie Dogs, FWS, retrieved 2013-11-14
12. ^ Plague Kills Many Prairie Dogs and Black-Footed Ferrets in Grasslands Near Badlands National Park, National Parks Traveler, retrieved 2013-11-14
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*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[U.S.]: United States
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
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*[[*]]: Article is not yet available in this wiki.
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*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
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*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Septicemic plague | c0152936 | 28,775 | wikipedia | https://en.wikipedia.org/wiki/Septicemic_plague | 2021-01-18T19:07:51 | {"mesh": ["D010930"], "umls": ["C0152936"], "wikidata": ["Q3100117"]} |
"Astigmatic" redirects here. For the album, see Astigmatic (album).
For the more general class of optical aberrations, see Astigmatism (optical systems).
Type of eye defect
Astigmatism
Blur from astigmatic lens at different distances
SpecialtyOphthalmology, optometry
SymptomsDistorted or blurred vision at all distances, eyestrain, headaches[1]
ComplicationsAmblyopia[2]
CausesUnclear[3]
Diagnostic methodEye exam[1]
TreatmentGlasses, contact lenses, surgery[1]
Frequency30% to 60% of adults (Europe, Asia)[4]
Astigmatism is a type of refractive error in which the eye does not focus light evenly on the retina.[1] This results in distorted or blurred vision at any distance.[1] Other symptoms can include eyestrain, headaches, and trouble driving at night.[1] If it occurs in early life, it can later result in amblyopia.[2]
The cause of astigmatism is unclear, however it is believed to be partly related to genetic factors.[3][4] The underlying mechanism involves an irregular curvature of the cornea or abnormalities in the lens of the eye.[1][3] Diagnosis is by an eye examination.[1]
Three treatment options are available: glasses, contact lenses, and surgery.[1] Glasses are the simplest.[1] Contact lenses can provide a wider field of vision.[1] Refractive surgery permanently changes the shape of the eye.[1]
In Europe and Asia, astigmatism affects between 30 and 60% of adults.[4] People of all ages can be affected by astigmatism.[1] Astigmatism was first reported by Thomas Young in 1801.[3][5]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetics
* 3 Pathophysiology
* 3.1 Axis of the principal meridian
* 3.2 Focus of the principal meridian
* 3.3 Throughout the eye
* 4 Diagnosis
* 4.1 Classification
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Although astigmatism may be asymptomatic, higher degrees of astigmatism may cause symptoms such as blurred vision, double vision, squinting, eye strain, fatigue, or headaches.[6] Some research has pointed to the link between astigmatism and higher prevalence of migraine headaches.[7]
## Causes[edit]
The cause of astigmatism is unclear, however it is believed to be partly related to genetic factors.[3]
### Genetics[edit]
Genetics, based on twin studies, appear to play only a small role in astigmatism as of 2007.[8]
Genome-wide association study (GWAS) have been used to investigate the genetic foundation of astigmatism. Although no conclusive result has been shown, various candidates have been identified. In a study conducted in 2011 on various Asian populations, variants in the PDGFRA gene on chromosome 4q12 were identified to be associated with corneal astigmatism.[9] A follow-up study in 2013 on the European population, however, found no variant significantly associated with corneal astigmatism at the genome-wide level (single-nucleotide polymorphism rs7677751 at PDGFRA).[10] Facing the inconsistency, a study by Shah and colleagues in 2018 included both populations with Asian and Northern European ancestry. They successfully replicated the previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, with a further success of identifying three novel candidate genes: CLDN7, ACP2, and TNFAIP8L3.[11] Other GWAS studies also provided inconclusive results: Lopes and colleagues identified a susceptibility locus with lead single nucleotide polymorphism rs3771395 on chromosome 2p13.3 in the VAX2 gene (VAX2 plays an important role in the development of the dorsoventral axis of the eye);[12] Li and associates, however, found no consistent or strong genetic signals for refractive astigmatism while suggesting a possibility of widespread genetic co-susceptibility for spherical and astigmatic refractive errors. They also found that the TOX gene region previously identified for spherical equivalent refractive error was the second most strongly associated region.[13] Another recent follow-up study again had identified four novel loci for corneal astigmatism, with two also being novel loci for astigmatism: ZC3H11B (associated with axial length), NPLOC4 (associated with myopia), LINC00340 (associated with spherical equivalent refractive error) and HERC2 (associated with eye color).[11]
## Pathophysiology[edit]
This section may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (October 2017) (Learn how and when to remove this template message)
Illustration of astigmatism
### Axis of the principal meridian[edit]
* Regular astigmatism – principal meridians are perpendicular. (The steepest and flattest meridians of the eye are called principal meridians.)
* With-the-rule astigmatism – the vertical meridian is steepest (a rugby ball or American football lying on its side).[14]
* Against-the-rule astigmatism – the horizontal meridian is steepest (a rugby ball or American football standing on its end).[14]
* Oblique astigmatism – the steepest curve lies in between 120 and 150 degrees and 30 and 60 degrees.[14]
* Irregular astigmatism – principal meridians are not perpendicular.
In with-the-rule astigmatism, the eye has too much "plus" cylinder in the horizontal axis relative to the vertical axis (i.e., the eye is too "steep" along the vertical meridian relative to the horizontal meridian). Vertical beams of light focus in front (anterior) to horizontal beams of light, in the eye. This problem may be corrected using spectacles which have a "minus" cylinder placed on this horizontal axis. The effect of this will be that when a vertical beam of light in the distance travels towards the eye, the "minus" cylinder (which is placed with its axis lying horizontally – in line with the patient's excessively steep horizontal axis/vertical meridian) will cause this vertical beam of light to slightly "diverge", or "spread out vertically", before it reaches the eye. This compensates for the fact that the patient's eye converges light more powerfully in the vertical meridian than the horizontal meridian. Hopefully, after this, the eye will focus all light on the same location at the retina, and the patient's vision will be less blurred.[medical citation needed]
In against-the-rule astigmatism, a plus cylinder is added in the horizontal axis (or a minus cylinder in the vertical axis).[15]
Axis is always recorded as an angle in degrees, between 0 and 180 degrees in a counter-clockwise direction. Both 0 and 180 degrees lie on a horizontal line at the level of the center of the pupil, and as seen by an observer, 0 lies on the right of both the eyes.[medical citation needed]
Irregular astigmatism, which is often associated with prior ocular surgery or trauma, is also a common naturally occurring condition.[16] The two steep hemimeridians of the cornea, 180° apart in regular astigmatism, may be separated by less than 180° in irregular astigmatism (called nonorthogonal irregular astigmatism); and/or the two steep hemimeridians may be asymmetrically steep—that is, one may be significantly steeper than the other (called asymmetric irregular astigmatism). Irregular astigmatism is quantified by a vector calculation called topographic disparity.[17]
### Focus of the principal meridian[edit]
With accommodation relaxed:
* Simple astigmatism
* Simple hyperopic astigmatism – first focal line is on the retina, while the second is located behind the retina.
* Simple myopic astigmatism – first focal line is in front of the retina, while the second is on the retina.
* Compound astigmatism
* Compound hyperopic astigmatism – both focal lines are located behind the retina.
* Compound myopic astigmatism – both focal lines are located in front of the retina.
* Mixed astigmatism – focal lines are on both sides of the retina (straddling the retina)
### Throughout the eye[edit]
Astigmatism, whether it is regular or irregular, is caused by some combination of external (corneal surface) and internal (posterior corneal surface, human lens, fluids, retina, and eye-brain interface) optical properties. In some people, the external optics may have the greater influence, and in other people, the internal optics may predominate. Importantly, the axes and magnitudes of external and internal astigmatism do not necessarily coincide, but it is the combination of the two that by definition determines the overall optics of the eye. The overall optics of the eye are typically expressed by a person's refraction; the contribution of the external (anterior corneal) astigmatism is measured through the use of techniques such as keratometry and corneal topography. One method analyzes vectors for planning refractive surgery such that the surgery is apportioned optimally between both the refractive and topographic components.[18][19]
## Diagnosis[edit]
A number of tests are used during eye examinations to determine the presence of astigmatism and to quantify its amount and axis. A Snellen chart or other eye charts may initially reveal reduced visual acuity. A keratometer may be used to measure the curvature of the steepest and flattest meridians in the cornea's front surface.[20] Corneal topography may also be used to obtain a more accurate representation of the cornea's shape.[21] An autorefractor or retinoscopy may provide an objective estimate of the eye's refractive error and the use of Jackson cross cylinders in a phoropter or trial frame may be used to subjectively refine those measurements.[22][23][24] An alternative technique with the phoropter requires the use of a "clock dial" or "sunburst" chart to determine the astigmatic axis and power.[25][26] A keratometer may also be used to estimate astigmatism by finding the difference in power between the two primary meridians of the cornea. Javal's rule can then be used to compute the estimate of astigmatism.
A method of astigmatism analysis by Alpins may be used to determine both how much surgical change of the cornea is needed and after surgery to determine how close treatment was to the goal.[27]
Another rarely used refraction technique involves the use of a stenopaeic slit (a thin slit aperture) where the refraction is determined in specific meridians – this technique is particularly useful in cases where the patient has a high degree of astigmatism or in refracting patients with irregular astigmatism.
### Classification[edit]
There are three primary types of astigmatism: myopic astigmatism, hyperopic astigmatism, and mixed astigmatism. Cases can be classified further, such as regular or irregular and lenticular or corneal.
## Treatment[edit]
Astigmatism may be corrected with eyeglasses, contact lenses, or refractive surgery.[28] Glasses are the simplest and safest, although contact lenses can provide a wider field of vision. Refractive surgery can eliminate the need to wear corrective lenses altogether by permanently changing the shape of the eye but, like all elective surgery, comes with both greater risk and expense than the non-invasive options. Various considerations involving eye health, refractive status, and lifestyle determine whether one option may be better than another. In those with keratoconus, certain contact lenses often enable patients to achieve better visual acuity than eyeglasses. Once only available in a rigid, gas-permeable form, toric lenses are now also available as soft lenses.
In older people, astigmatism can also be corrected during cataract surgery. This can either be done by inserting a toric intraocular lens or by performing special incisions (limbal relaxing incisions). Toric intraocular lenses probably provide a better outcome with respect to astigmatism in theses cases than limbal relaxing incisions.[29]
Toric intraocular lenses can additionally be used in patients with complex ophthalmic history, such as previous ophthalmic surgery.[30] In such complex cases, toric intraocular lenses seems to be as effective as in non-complex cases for correction of concurrent corneal astigmatism.[30]
## Epidemiology[edit]
This article needs to be updated. The reason given is: Newer epidemiological data. Please update this section to reflect recent events or newly available information. (February 2020)
According to an American study, nearly three in 10 children (28.4%) between the ages of five and 17 have astigmatism.[31] A Brazilian study published in 2005 found that 34% of the students in one city were astigmatic.[32] Regarding the prevalence in adults, a recent study in Bangladesh found that nearly 1 in 3 (32.4%) of those over the age of 30 had astigmatism.[33]
A Polish study published in 2005 revealed "with-the-rule astigmatism" may lead to the onset of myopia.[34]
A number of studies have found the prevalence of astigmatism increases with age.[35]
## History[edit]
As a student, Thomas Young discovered that he had problems with one eye in 1793.[36] In the following years he did research on his vision problems.[37] He presented his findings in a Bakerian Lecture in 1801.[38]
Independent from Young, George Biddell Airy discovered the phenomenon of astigmatism on his own eye.[39] Airy presented his observations on his own eye in February 1825 at the Cambridge Philosophical Society.[40][41] Airy produced lenses to correct his vision problems by 1825,[39][42] while other sources put this into 1827[43] when Airy obtained cylindrical lenses from an optician from Ipswich.[44] The name for the condition was not given by Airy, but from William Whewell.[45][46][47]
By the 1860s astigmatism was a well established concept in ophthalmology,[48] and chapters in books described the discovery of astigmatism.[49][50]
## See also[edit]
* Near-sightedness
* Far-sightedness
## References[edit]
1. ^ a b c d e f g h i j k l m "Facts About Astigmatism". National Eye Institute. October 2010. Archived from the original on 2 October 2016. Retrieved 22 December 2019.CS1 maint: unfit URL (link)
2. ^ a b Harvey, EM (June 2009). "Development and treatment of astigmatism-related amblyopia". Optometry and Vision Science. 86 (6): 634–9. doi:10.1097/opx.0b013e3181a6165f. PMC 2706277. PMID 19430327.
3. ^ a b c d e Read, SA; Collins, MJ; Carney, LG (January 2007). "A review of astigmatism and its possible genesis". Clinical & Experimental Optometry. 90 (1): 5–19. doi:10.1111/j.1444-0938.2007.00112.x. PMID 17177660. S2CID 8876207.
4. ^ a b c Mozayan, E; Lee, JK (July 2014). "Update on astigmatism management". Current Opinion in Ophthalmology. 25 (4): 286–90. doi:10.1097/icu.0000000000000068. PMID 24837578. S2CID 40929023.
5. ^ "Thomas Young | British physician and physicist". Encyclopædia Britannica. Archived from the original on 29 August 2017. Retrieved 28 August 2017.
6. ^ "Astigmatism". MedicineNet. OnHealth.com. Archived from the original on 2 July 2013. Retrieved 8 September 2013.
7. ^ Harle, Deacon E.; Evans, Bruce J. W. (2006). "The Correlation Between Migraine Headache and Refractive Errors". Optometry and Vision Science. 83 (2): 82–7. doi:10.1097/01.opx.0000200680.95968.3e. PMID 16501409. S2CID 32019102.
8. ^ Read, SA; Collins, MJ; Carney, LG (January 2007). "A review of astigmatism and its possible genesis". Clinical & Experimental Optometry. 90 (1): 5–19. doi:10.1111/j.1444-0938.2007.00112.x. PMID 17177660. S2CID 8876207.
9. ^ Fan, Qiao; Zhou, Xin; Khor, Chiea-Chuen; Cheng, Ching-Yu; Goh, Liang-Kee; Sim, Xueling; Tay, Wan-Ting; Li, Yi-Ju; Ong, Rick Twee-Hee; Suo, Chen; Cornes, Belinda (December 2011). "Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism". PLOS Genetics. 7 (12): e1002402. doi:10.1371/journal.pgen.1002402. ISSN 1553-7404. PMC 3228826. PMID 22144915.
10. ^ Yazar, Seyhan; Mishra, Aniket; Ang, Wei; Kearns, Lisa S.; Mountain, Jenny A.; Pennell, Craig; Montgomery, Grant W.; Young, Terri L.; Hammond, Christopher J.; Macgregor, Stuart; Mackey, David A. (2013). "Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study". Molecular Vision. 19: 1238–1246. ISSN 1090-0535. PMC 3675057. PMID 23761726.
11. ^ a b Shah, Rupal L.; Guggenheim, Jeremy A.; UK Biobank Eye and Vision Consortium (December 2018). "Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci". Human Genetics. 137 (11–12): 881–896. doi:10.1007/s00439-018-1942-8. ISSN 1432-1203. PMC 6267700. PMID 30306274.
12. ^ Lopes, Margarida C.; Hysi, Pirro G.; Verhoeven, Virginie J. M.; Macgregor, Stuart; Hewitt, Alex W.; Montgomery, Grant W.; Cumberland, Phillippa; Vingerling, Johannes R.; Young, Terri L.; van Duijn, Cornelia M.; Oostra, Ben (1 February 2013). "Identification of a candidate gene for astigmatism". Investigative Ophthalmology & Visual Science. 54 (2): 1260–1267. doi:10.1167/iovs.12-10463. ISSN 1552-5783. PMC 3576051. PMID 23322567.
13. ^ Li, Qing; Wojciechowski, Robert; Simpson, Claire L.; Hysi, Pirro G.; Verhoeven, Virginie J. M.; Ikram, Mohammad Kamran; Höhn, René; Vitart, Veronique; Hewitt, Alex W.; Oexle, Konrad; Mäkelä, Kari-Matti (February 2015). "Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium". Human Genetics. 134 (2): 131–146. doi:10.1007/s00439-014-1500-y. ISSN 1432-1203. PMC 4291519. PMID 25367360.
14. ^ a b c Gilbert Smolin; Charles Stephen Foster; Dimitri T. Azar; Claes H. Dohlman (2005). Smolin and Thoft's The Cornea: Scientific Foundations and Clinical Practice. Lippincott Williams & Wilkins. pp. 173–. ISBN 978-0-7817-4206-1.
15. ^ Carlo Cavallotti; Luciano Cerulli (31 May 2008). Age-Related Changes of the Human Eye. Springer Science & Business Media. pp. 49–. ISBN 978-1-59745-507-7.
16. ^ Bogan, SJ; Waring Go, 3rd; Ibrahim, O; Drews, C; Curtis, L (1990). "Classification of normal corneal topography based on computer-assisted videokeratography". Archives of Ophthalmology. 108 (7): 945–9. doi:10.1001/archopht.1990.01070090047037. PMID 2369353.
17. ^ Alpins, NA (1998). "Treatment of irregular astigmatism". Journal of Cataract and Refractive Surgery. 24 (5): 634–46. doi:10.1016/s0886-3350(98)80258-7. PMID 9610446. S2CID 25181513.
18. ^ Alpins, NA (1997). "New method of targeting vectors to treat astigmatism". Journal of Cataract and Refractive Surgery. 23 (1): 65–75. doi:10.1016/s0886-3350(97)80153-8. PMID 9100110. S2CID 13411077.
19. ^ Alpins, NA (1997). "Vector analysis of astigmatism changes by flattening, steepening, and torque". Journal of Cataract and Refractive Surgery. 23 (10): 1503–14. doi:10.1016/s0886-3350(97)80021-1. PMID 9456408. S2CID 21814626.
20. ^ "Keratometry". St. Luke's Cataract & Laser Institute. Archived from the original on 29 October 2013. Retrieved 8 September 2013.
21. ^ Corneal Topography and Imaging at eMedicine
22. ^ Graff, T (1962). "Control of the determination of astigmatism with the Jackson cross cylinder". Klinische Monatsblätter für Augenheilkunde und für Augenärztliche Fortbildung. 140: 702–8. PMID 13900989.
23. ^ Del Priore, LV; Guyton, DL (1986). "The Jackson cross cylinder. A reappraisal". Ophthalmology. 93 (11): 1461–5. doi:10.1016/s0161-6420(86)33545-0. PMID 3808608.
24. ^ Brookman, KE (1993). "The Jackson crossed cylinder: Historical perspective". Journal of the American Optometric Association. 64 (5): 329–31. PMID 8320415.
25. ^ "Basic Refraction Procedures". Quantum Optical. Archived from the original on 29 October 2013. Retrieved 8 September 2013.[unreliable medical source?]
26. ^ "Introduction to Refraction". Nova Southeastern University. Archived from the original on 10 September 1999. Retrieved 8 September 2013.
27. ^ Boyd, Benjamin F. (2011). Modern Ophthalmology The Highlights. Panama: Jaypee Brothers Medical Pub. p. 388. ISBN 9789962678168.
28. ^ "Facts About Astigmatism". National Eye Institute. National Institutes of Health. Retrieved 16 June 2019.
29. ^ Lake, Jonathan C; Victor, Gustavo; Clare, Gerry; Porfírio, Gustavo JM; Kernohan, Ashleigh; Evans, Jennifer R (17 December 2019). Cochrane Eyes and Vision Group (ed.). "Toric intraocular lens versus limbal relaxing incisions for corneal astigmatism after phacoemulsification". Cochrane Database of Systematic Reviews. 12: CD012801. doi:10.1002/14651858.CD012801.pub2. PMC 6916141. PMID 31845757.
30. ^ a b Mustafa, Osama M.; Prescott, Christina; Alsaleh, Fares; Dzhaber, Daliya; Daoud, Yassine J. (2019). "Refractive and Visual Outcomes and Rotational Stability of Toric Intraocular Lenses in Eyes With and Without Previous Ocular Surgeries: A Longitudinal Study". Journal of Refractive Surgery. 35 (12): 781–788. doi:10.3928/1081597x-20191021-03. ISSN 1081-597X. PMID 31830294.
31. ^ Kleinstein, R. N.; Jones, LA; Hullett, S; et al. (2003). "Refractive Error and Ethnicity in Children". Archives of Ophthalmology. 121 (8): 1141–7. doi:10.1001/archopht.121.8.1141. PMID 12912692.
32. ^ Garcia, Carlos Alexandre de Amorim; Oréfice, Fernando; Nobre, Gabrielle Fernandes Dutra; Souza, Dilene de Brito; Rocha, Marta Liliane Ramalho; Vianna, Raul Navarro Garrido (2005). "Prevalence of refractive errors in students in Northeastern Brazil". Arquivos Brasileiros de Oftalmologia. 68 (3): 321–5. doi:10.1590/S0004-27492005000300009. PMID 16059562.
33. ^ Bourne, R; Dineen, BP; Ali, SM; Noorul Huq, DM; Johnson, GJ (2004). "Prevalence of refractive error in Bangladeshi adults*1Results of the National Blindness and Low Vision Survey of Bangladesh". Ophthalmology. 111 (6): 1150–60. doi:10.1016/j.ophtha.2003.09.046. PMID 15177965.
34. ^ Czepita, D; Filipiak, D (2005). "The effect of the type of astigmatism on the incidence of myopia". Klinika Oczna. 107 (1–3): 73–4. PMID 16052807.
35. ^ Asano, Kazuko; Nomura, Hideki; Iwano, Makiko; Ando, Fujiko; Niino, Naoakira; Shimokata, Hiroshi; Miyake, Yozo (2005). "Relationship Between Astigmatism and Aging in Middle-aged and Elderly Japanese". Japanese Journal of Ophthalmology. 49 (2): 127–33. doi:10.1007/s10384-004-0152-1. PMID 15838729. S2CID 20925765.
36. ^ Coggin, David (1893). "Notes on the Centennial Anniversary of the Discovery of Astigmatism". Boston Med Surg J. 128 (6): 136–137. doi:10.1056/NEJM189302091280603.
37. ^ Atchison, David A; Charman, W Neil (2011). "Thomas Young's contributions to geometrical optics" (PDF). Clinical and Experimental Optometry. 94 (4): 333–340. doi:10.1111/j.1444-0938.2010.00560.x. PMID 21214628.
38. ^ Thomas Young (1801). "II. The Bakerian Lecture. On the mechanism of the eye". Philosophical Transactions of the Royal Society of London. 91: 23–88. Bibcode:1801RSPT...91...23Y. doi:10.1098/rstl.1801.0004.
39. ^ a b Levene, J. R. (1966). "Sir George Biddell Airy, F.R.S. (1801-1892) and the Discovery and Correction of Astigmatism". Notes and Records of the Royal Society of London. 21 (2): 180–199. doi:10.1098/rsnr.1966.0017. JSTOR 531067. S2CID 72385672.
40. ^ Wang, Ming (22 October 2007). Irregular Astigmatism: Diagnosis and Treatment. ISBN 9781556428395.
41. ^ George Biddell Airy (1827). "On a peculiar Defect in the Eye, and a mode of correcting it". Transactions of the Cambridge Philosophical Society.
42. ^ Read, Scott A; Collins, Michael J; Carney, Leo G (2007). "A review of astigmatism and its possible genesis". Clinical and Experimental Optometry. 90 (1): 5–19. doi:10.1111/j.1444-0938.2007.00112.x. PMID 17177660. S2CID 8876207.
43. ^ Porter, Jason (2006). Adaptive optics for vision science: principles, practices, design, and applications. ISBN 9780471679417.
44. ^ Wood, Alexander; Oldham, Frank (1954). Thomas Young Natural Philosopher 1773–1829.
45. ^ Donders, Franciscus Cornelis (1866). Die Anomalien der Refraction und Accommodation des Auges. Braumüller. p. 381.
46. ^ Wang, Ming (22 October 2007). Irregular Astigmatism: Diagnosis and Treatment. ISBN 9781556428395. Archived from the original on 29 June 2011.
47. ^ Snyder, C. (1965). "The Rev. Mr. Goodrich and His Visual Problem". Archives of Ophthalmology. 73 (4): 587–589. doi:10.1001/archopht.1965.00970030589023. PMID 14270148.
48. ^ Bumstead, J. F. (1863). "A Few Remarks on Astigmatism". Boston Med Surg J. 69 (14): 280–284. doi:10.1056/NEJM186311050691404.
49. ^ Donders, Franciscus C (1862). Astigmatismus und cylindrische Gläser. Peters. p. 129.
50. ^ Artal, Pablo; Tabernero, Juan (2010). "Optics of human eye: 400 years of exploration from Galileo's time". Applied Optics. 49 (16): D123–30. Bibcode:2010ApOpt..49G.123A. doi:10.1364/AO.49.00D123. PMID 20517354. S2CID 1539303.
## External links[edit]
Classification
D
* ICD-10: H52.2
* ICD-9-CM: 367.2
* OMIM: 603047
* MeSH: D001251
* DiseasesDB: 29648
* SNOMED CT: 82649003
External resources
* MedlinePlus: 001015
Look up astigmatism in Wiktionary, the free dictionary.
* Astigmatism at Curlie
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palsies
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Other strabismus
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* Conjugate gaze palsy
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subjective
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Pupil
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Other
* Nystagmus
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Infections
* Trachoma
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Authority control
* NDL: 00569289
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Astigmatism | c0004106 | 28,776 | wikipedia | https://en.wikipedia.org/wiki/Astigmatism | 2021-01-18T18:37:14 | {"mesh": ["D001251"], "umls": ["C0004106"], "wikidata": ["Q177895"]} |
Spindle cell lipoma
Spindle cell lipoma is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.[1]:625[2]
## See also[edit]
* Intradermal spindle cell lipoma
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-O: 8857/0
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Spindle cell lipoma | c0334474 | 28,777 | wikipedia | https://en.wikipedia.org/wiki/Spindle_cell_lipoma | 2021-01-18T19:01:10 | {"umls": ["C0334474"], "wikidata": ["Q7577498"]} |
Tetrahydrobiopterin deficiency
Other namesTHB or BH4 deficiency
Tetrahydrobiopterin
SpecialtyEndocrinology
Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems. In healthy individuals, it is metabolised (hydroxylated) into tyrosine, another amino acid, by phenylalanine hydroxylase. However, this enzyme requires tetrahydrobiopterin as a cofactor and thus its deficiency slows phenylalanine metabolism.
High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin (THB, BH4) deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include intellectual disability, movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control body temperature.
It was first characterized in 1975.[1]
## Contents
* 1 Genetics
* 1.1 Related genes
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Genetics[edit]
Tetrahydrobiopterin deficiency has an autosomal recessive pattern of inheritance.
This condition is inherited in an autosomal recessive pattern, which means two copies of a specific gene in each cell are altered in order for the individual to be afflicted. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.[citation needed]
### Related genes[edit]
Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR gene (A1298C variant) and DHFR can interfere with the recycling of BH4 and lead to less severe, but still clinifically significant, deficiencies of BH4.[citation needed]
BH4 is a compound that helps convert several amino acids, including phenylalanine, to other essential molecules in the body. It is also involved in the production of serotonin, dopamine, epinephrine, and norepinephrine – neurotransmitters that transmit signals between nerve cells in the brain. THB deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes control the production of hydroxylase enzymes that are critical for producing and recycling THB. If just one of the enzymes fails to function correctly because of a gene mutation, little or no BH4 is produced. As a result, phenylalanine from the diet builds up in the bloodstream and other tissues, potentially damaging nerve cells in the brain. Tetrahydrobiopterin deficiency also disrupts the levels of certain neurotransmitters in the brain, which affects the function of the central nervous system (CNS), and dysregulation of the nitric oxide cycle leads to a buildup of peroxynitrite, an inflammatory oxidant that further degrades BH4 and perpetuates a state of inflammation.[citation needed]
## Pathophysiology[edit]
Tetrahydrobiopterin deficiency can be caused by a deficiency of the enzyme dihydrobiopterin reductase (DHPR), whose activity is needed to replenish quinonoid-dihydrobiopterin back into its tetrahydrobiopterin form.[1] Those with this deficiency may produce sufficient levels of the enzyme phenylalanine hydroxylase (PAH) but, since tetrahydrobiopterin is a cofactor for PAH activity, deficient dihydrobiopterin reductase renders any PAH produced unable to use phenylalanine to produce tyrosine. Tetrahydrobiopterin is a cofactor in the production of L-DOPA from tyrosine and 5-hydroxy-L-tryptophan from tryptophan, which must be supplemented as treatment in addition to the supplements for classical PKU.
Other underlying causes of tetrahydrobiopterin deficiency are:[2]
* 6-Pyruvoyl tetrahydropterin synthase (PTPS) deficiency
* Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) deficiency
* Pterin-4alpha-carbinolamine dehydratase (PCD) deficiency
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2016)
## Treatment[edit]
Treatment of THB deficiencies consists of THB supplementation (2–20 mg/kg per day) or diet to control blood phenylalanine concentration and replacement therapy with neurotransmitters precursors (L-DOPA and 5-HTP) and supplements of folinic acid in DHPR deficiency.[3]
Tetrahydrobiopterin is available as a tablet for oral administration in the form of tetrahydrobiopterin dihydrochloride (BH4*2HCL).[4] BH4*2HCL is FDA approved under the trade name Kuvan. The typical cost of treating a patient with Kuvan is $100,000 per year.[5] BioMarin holds the patent for Kuvan until at least 2024, but Par Pharmaceutical has a right to produce a generic version by 2020.[6] BH4*2HCL is indicated at least in tetrahydrobiopterin deficiency caused by GTPCH deficiency or PTPS deficiency.[2]
## Epidemiology[edit]
This condition is very rare; approximately 600 cases have been reported worldwide.[7] In most parts of the world, only 1% to 2% of all infants with high phenylalanine levels have this disorder. In Taiwan, about 30% of newborns with elevated levels of phenylalanine have a deficiency of THB.[8]
Subclinical deficiency can be found in individuals with poor diet (including low intake of folate or vitamin C) or genetic mutations in the MTHFR genes, which are involved in BH4 synthesis and recycling.[citation needed]
## See also[edit]
* Phenylketonuria (PKU)
* Tetrahydrobiopterin (THB, BH4)
## References[edit]
1. ^ a b Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L (2004). "Dihydropteridine reductase deficiency in man: from biology to treatment". Med Res Rev. 24 (2): 127–50. doi:10.1002/med.10055. PMID 14705166.
2. ^ a b "Tetrahydrobiopterin Deficiency". National Organization for Rare Disorders (NORD). Retrieved 2017-10-09.
3. ^ Shintaku H (2002). "Disorders of tetrahydrobiopterin metabolism and their treatment". Curr Drug Metab. 3 (2): 123–31. doi:10.2174/1389200024605145. PMID 12003346.
4. ^ Schaub J, Däumling S, Curtius HC, Niederwieser A, Bartholomé K, Viscontini M, Schircks B, Bieri JH (1978). "Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis". Arch. Dis. Child. 53 (8): 674–6. doi:10.1136/adc.53.8.674. PMC 1545051. PMID 708106.
5. ^ Matthew Herper (2016-07-28). "How Focusing On Obscure Diseases Made BioMarin A $15 Billion Company". Forbes. Retrieved 2017-10-09.
6. ^ "BioMarin Announces Kuvan (sapropterin dihydrochloride) Patent Challenge Settlement". PR Newswire. 2017-04-13. Retrieved 2017-10-09.
7. ^ "BIODEF database". Retrieved September 20, 2010.
8. ^ Liu TT, Chiang SH, Wu SJ, Hsiao KJ (2001). "Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese". Clin Chim Acta. 313 (1–2): 157–69. doi:10.1016/S0009-8981(01)00669-6. PMID 11694255.
## External links[edit]
Classification
D
* ICD-10: E70.1
* ICD-9-CM: 270.1
* MeSH: C538382
External resources
* eMedicine: ped/2226
* 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
* v
* t
* e
Metabolic disorders of vitamins, coenzymes, and cofactors
B7 Biotin/MCD
* Biotinidase deficiency
* Holocarboxylase synthetase deficiency
Other B
* B5 (Pantothenate kinase-associated neurodegeneration)
* B12 (Methylmalonic acidemia)
Other vitamin
* Familial isolated vitamin E deficiency
Nonvitamin cofactor
* Tetrahydrobiopterin deficiency
* Molybdenum cofactor 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Tetrahydrobiopterin deficiency | c1849700 | 28,778 | wikipedia | https://en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency | 2021-01-18T19:09:46 | {"gard": ["7751"], "mesh": ["C538382"], "umls": ["C1849700"], "icd-9": ["270.1"], "icd-10": ["E70.1"], "orphanet": ["238583", "1578"], "wikidata": ["Q7706537"]} |
A number sign (#) is used with this entry because spastic paraplegia-42 (SPG42) is caused by heterozygous mutation in the SLC33A1 gene (603690).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
Clinical Features
Lin et al. (2008) reported a large Chinese family in which at least 20 individuals were diagnosed with autosomal dominant SPG. There was at least 1 case of incomplete penetrance in an obligate carrier. Age at onset varied widely, ranging from 4 to 42 years, although most affected individuals had onset in the first 2 decades of life. Classic features included spastic gait, increased lower limb tone, hyperreflexia, weakness and atrophy of the lower limb muscles, extensor plantar responses, and pes cavus. None of the patients became wheelchair-bound, and there were no additional neurologic symptoms.
Mapping
By linkage analysis of a large Chinese family with autosomal dominant SPG, Lin et al. (2008) mapped the disease locus, SPG42, to chromosome 3q24-q26 (maximum lod score of 5.085 at D3S1746).
Molecular Genetics
In affected members of a Chinese family with SPG42, Lin et al. (2008) identified a heterozygous mutation in the SLC33A1 gene (603690.0001). The authors postulated haploinsufficiency as the disease mechanism.
Schlipf et al. (2010) did not find pathogenic mutations in the SLC33A1 gene in 220 patients with autosomal dominant SPG who were negative for mutations in the SPAST gene (604277). The patients were of German, French, and Norwegian descent. The findings suggested that SLC33A1 mutations are not a common cause of SPG in the European population.
INHERITANCE \- Autosomal dominant SKELETAL Feet \- Pes cavus MUSCLE, SOFT TISSUES \- Increased muscle tone, lower limbs \- Muscle atrophy, lower limbs \- Muscle weakness, lower limbs NEUROLOGIC Central Nervous System \- Spastic paraplegia \- Spastic gait \- Lower limb hyperreflexia \- Extensor plantar responses MISCELLANEOUS \- Variable age at onset (range 4 to 40 years, mostly in first or second decade) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 33 (acetyl-CoA transporter), member 1 gene (SLC33A1, 603690.0001 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT | c2675528 | 28,779 | omim | https://www.omim.org/entry/612539 | 2019-09-22T16:01:17 | {"doid": ["0110794"], "mesh": ["C567262"], "omim": ["612539"], "orphanet": ["171863"]} |
Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Proximal symphalangism | c1861385 | 28,780 | gard | https://rarediseases.info.nih.gov/diseases/8182/proximal-symphalangism | 2021-01-18T17:58:06 | {"mesh": ["C536223"], "omim": ["185800", "615298"], "umls": ["C1861385"], "orphanet": ["3250"], "synonyms": ["Strasburger-Hawkins-Eldridge syndrome", "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome", "Vessel’s syndrome", "Hereditary absence of proximal interphalangeal joints", "Proximal symphalangism", "Cushing's symphalangism ", "Symphalangism, proximal, 1A (subtype)", "Symphalangism, proximal, 1B (subtype)"]} |
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Teebi-Shaltout syndrome | c1848912 | 28,781 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3291 | 2021-01-23T17:50:17 | {"gard": ["5125"], "mesh": ["C536950"], "omim": ["272950"], "umls": ["C1848912"]} |
A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.
## Epidemiology
European point prevalence appears to be close to 1/300,000, but may be markedly higher in countries where consanguineous marriage is frequent.
## Clinical description
Clinical expression of this disorder is highly variable and no consistent relationship has been found between the severity of the hemorrhagic syndrome and the residual levels of FVII activity. The clinical picture can be very severe, with early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, may be moderate with cutaneous/mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by surgery or trauma. Finally, numerous subjects are completely asymptomatic despite a very low FVII level.
## Etiology
FVII deficiency is caused by mutations in the F7 gene (13q34) coding for FVII. Typically, only homozygotes or compound heterozygotes develop a hemorrhagic syndrome; heterozygotes are usually asymptomatic. More than 250 mutations and six common variants are known to be associated with increased or decreased FVII plasma levels. Large genomic rearrangements have been reported in the literature and in the different locus-specific databases but they are rare. Genetic rearrangements have also been demonstrated, resulting in total or partial deletion of the F7 gene. The proximity and implication with the F10 gene (13q34) might also be the cause of combined deficits.
## Diagnostic methods
Diagnosis is suspected with isolated prothrombin time and further confirmed by chronometric assays revealing a FVII activity level below that of pooled normal plasma (with values usually being between 70 and 140%). The deficiency is usually symptomatic only for values below 30%.
## Differential diagnosis
Differential diagnoses include hepatocellular insufficiency, hypoavitaminosis K, acquired FVII deficiency associated with severe sepsis and, more rarely, the presence of autoantibodies against FVII.
## Antenatal diagnosis
Due to the marked heterogeneity of the phenotypes (including asymptomatic individuals), access to prenatal diagnosis depends on the clinical repercussions of the disease in the family being considered. Only the existence of a first child with the very severe form may lead the medical team to propose prenatal diagnosis at the time of a subsequent pregnancy.
## Genetic counseling
The disease is transmitted in an autosomal recessive manner. Due to the wide phenotypic heterogeneity of the disorder, with many asymptomatic patients, genetic counseling tends to differ depending on the clinical features specific to a family.
## Management and treatment
At present, the main treatment consists of recombinant activated FVII (eptacog alfa). Concentrated prothrombinic or plasmatic Factor VII may be used as a second choice and frozen plasma as a last resort. However, indications remain difficult to establish prior to surgery in subjects with few or no symptoms. In 2008, recombinant coagulation factor VIIa (rFVIIa) got an Orphan designation in the USA.
## Prognosis
Congenital FVII deficiency usually has good prognosis. Nevertheless, disease remains very disabling, or even fatal, in patients who cannot benefit from long-term replacement prophylaxis and which present the most severe forms (intracerebral hemorrhage and repeated hemarthroses).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital factor VII deficiency | c0015503 | 28,782 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=327 | 2021-01-23T17:12:46 | {"gard": ["2238"], "mesh": ["D005168"], "omim": ["227500"], "umls": ["C0015503"], "icd-10": ["D68.2"], "synonyms": ["Congenital proconvertin deficiency", "Hypoproconvertinemia"]} |
A number sign (#) is used with this entry because foveal hypoplasia-1 with or without anterior segment anomalies and/or cataract (FVH1) is caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13.
Description
Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014).
### Genetic Heterogeneity of Foveal Hypoplasia
Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23.
Clinical Features
Curran and Robb (1976) noted that defective development of the fovea usually occurs in patients with aniridia or albinism. However, they reported 9 patients with foveal hypoplasia with varying degrees of congenital nystagmus and poor visual acuity, but no evidence of aniridia or albinism. They suggested that isolated foveal hypoplasia may be more common than previously believed.
Oliver et al. (1987) reported 15 patients with isolated foveal hypoplasia. Characteristic associated findings included poor visual acuity, nystagmus, absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area. The authors noted that the fundal findings are difficult to detect and also suggested that isolated foveal hypoplasia may be more common than generally believed.
O'Donnell and Pappas (1982) described a family in which 7 persons over 4 generations had mild foveal hypoplasia, presenile cataract (onset before age 40 years), and peripheral corneal pannus. There were 2 instances of male-to-male transmission, suggesting autosomal dominant inheritance. Corneal pannus was described as 'a small peripheral margin of pannus, about 1 mm in width, for 360 degrees.'
Azuma et al. (1996) reported a family in which 5 individuals over 3 generations were affected with isolated foveal hypoplasia. All affected members had poorly defined foveal regions with a normal cornea and iris. In addition, all members had poor visual acuity and nystagmus.
Hanson et al. (1999) reported 3 members in a family who were affected with dominantly inherited congenital nystagmus. In addition, the proband and her mother also had congenital bilateral cataracts, corneal epithelial changes, and foveal hypoplasia. The proband's brother had congenital nystagmus and mild lens opacities. Hanson et al. (1999) suggested that the phenotype in this family resembled the syndrome reported by O'Donnell and Pappas (1982).
Recchia et al. (2002) reported a woman with poor vision and nystagmus who was found to have a 1-mm corneal pannus encompassing the superior 270 degrees of each eye, absent foveal reflexes, and an ill-defined capillary-free zone. Her paternal grandmother, father, and sister reportedly had poor vision, nystagmus, and early cataracts, which Recchia et al. (2002) suggested was most compatible with the syndrome reported by O'Donnell and Pappas (1982). Optical coherence tomography (OCT) showed preservation of multiple inner retinal layers where there should have been none, indicating that the fovea was thicker than normal. The authors suggested that a more accurate term would be 'foveal dysgenesis,' and proposed that OCT might prove helpful in the evaluation of patients with unexplained visual loss.
Inheritance
Male-to-male transmission in the family with foveal hypoplasia reported by O'Donnell and Pappas (1982) suggested autosomal dominant inheritance.
Molecular Genetics
In a family with isolated foveal hypoplasia, Azuma et al. (1996) identified a heterozygous missense mutation in the PAX6 gene (607108.0012) that segregated with the phenotype.
In affected members of a family with foveal hypoplasia and presenile cataracts, Hanson et al. (1999) identified a heterozygous mutation in the PAX6 gene (607108.0014).
In affected members of a family with foveal hypoplasia, congenital nystagmus, and anterior segment anomalies (mainly iris hypoplasia or atypical coloboma), Vincent et al. (2004) identified a heterozygous splice mutation in the PAX6 gene (607108.0021).
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Foveal hypoplasia \- Presenile cataract \- Subnormal visual acuity \- Congenital nystagmus \- Peripheral corneal pannus MOLECULAR BASIS \- Caused by mutation in the paired box homeotic gene 6 (PAX6, 607108.0012 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FOVEAL HYPOPLASIA 1 | c2931644 | 28,783 | omim | https://www.omim.org/entry/136520 | 2019-09-22T16:40:58 | {"mesh": ["C537858"], "omim": ["136520"], "orphanet": ["2253"], "synonyms": ["Alternative titles", "FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT"]} |
## Clinical Features
Cantu et al. (1975) described a male infant, born of consanguineous parents, with a previously undescribed syndrome consisting of hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation.
In 2 daughters, and perhaps a third, of first-cousin parents, Hernandez et al. (1979) observed the same syndrome. IQ was in the vicinity of 70. The nails were hypoplastic with koilonychia and onychorrhexis. Head hair was absent at birth. Later it was short, dry, lusterless, curly, and sparse. The eyelashes were similar and caused chronic irritative conjunctivitis. No axillary hair and only sparse pubic hair developed at puberty. Microscopically, hairs showed trichorrhexis. Neutropenia was persistent with intermittent aggravation. Lymphocytes were increased, especially when the neutrophils were lowest. The patients had recurrent infections.
Corona-Rivera et al. (1981) described another case, the offspring of related parents, and called the condition ONMRS to include mental retardation. However, Verhage et al. (1987) described a child typical in all ways except for normal intelligence. They suggested that the mild mental retardation observed in previously reported patients could be the consequence of repeated infections. Verhage et al. (1987) concluded that the chronic neutropenia falls into the category of 'lazy leukocyte syndrome' (150550), a heterogeneous entity. Dallapiccola et al. (1994) described a second sporadic case of onychotrichodysplasia and chronic neutropenia with normal intelligence.
Itin and Pittelkow (1991) described this disorder in a white girl of Mexican-American ancestry.
Inheritance
The transmission pattern of onychotrichodysplasia with chronic neutropenia in the family reported by Hernandez et al. (1979) was consistent with autosomal recessive inheritance.
Hair \- Head hair absent at birth \- Short hair \- Dry lusterless hair \- Curly hair \- No axillary hair \- Sparse pubic hair Eyes \- Short curly eyelashes \- Chronic irritative conjunctivitis Neuro \- Mild psychomotor retardation Inheritance \- Autosomal recessive Nails \- Hypoplastic fingernails \- Koilonychia \- Onychorrhexis Misc \- Recurrent infections Lab \- Trichorrhexis on hair microscopy Heme \- Chronic neutropenia \- Lymphocytosis ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ONYCHOTRICHODYSPLASIA AND NEUTROPENIA | c1850316 | 28,784 | omim | https://www.omim.org/entry/258360 | 2019-09-22T16:24:06 | {"mesh": ["C537752"], "omim": ["258360"], "orphanet": ["2739"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-14 (MCPH14) is caused by homozygous mutation in the SASS6 gene (609321) on chromosome 1p21. One such family has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Clinical Features
Khan et al. (2014) reported 4 patients with primary microcephaly from a 5-generation consanguineous Pakistani family. Two affected girls were 6 and 3.5 years of age, and 2 men were 50 and 42 years of age. Head circumference ranged from -6.63 to -19.6 SD, and all had severe mental retardation, impaired speech, and aggressive behavior. The 2 adult patients had seizures, and the 6-year-old girl was unable to walk. CT brain imaging of the 3.5-year-old girl showed a poorly confined basal ganglia, abnormal formation of the lateral ventricles, and hypoplasia of the cerebellar vermis.
Inheritance
The transmission pattern of MCPH14 in the family reported by Khan et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected members of a consanguineous Pakistani family with primary microcephaly, Khan et al. (2014) identified a homozygous missense mutation in the SASS6 gene (I62T; 609321.0001). The mutation, which was found by a combination of linkage analysis and Sanger sequencing, segregated with the disorder in the family. Transfection of the mutant and wildtype proteins into human cells demonstrated that the I62T mutation impairs the centriole-forming function of SASS6, thus predicting defective cell division. A homozygous missense variant (S219L) in the CAPZA1 gene (601580) also segregated with the disorder, but was not thought to be pathogenic.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, primary (up to -19.6 SD) NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Mental retardation \- Poor speech \- Seizures (in some patients) \- Cerebellar hypoplasia (1 patient) Behavioral Psychiatric Manifestations \- Aggressive behavior MISCELLANEOUS \- One consanguineous Pakistani family has been reported (last curated June 2015) MOLECULAR BASIS \- Caused by mutation in the SAS6, C. elegans, homolog of, gene (SASS6, 609321.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE | c3711387 | 28,785 | omim | https://www.omim.org/entry/616402 | 2019-09-22T15:48:57 | {"doid": ["0070279"], "mesh": ["C579935"], "omim": ["616402"], "orphanet": ["2512"]} |
Sugarman et al. (1974) described a new form of brachydactyly of which a conspicuous feature was a nonarticulating great toe which was set dorsal and proximal to the usual position. The great toes were amputated. The fingers were very short and had no motion at the proximal interphalangeal joints ('symphalangism'). The consanguinity in the family and the presence of 7 other affected persons among the patient's relatives made autosomal recessive inheritance likely. Further information on the family was provided by Fujimoto et al. (1982), who were impressed with abnormality of the proximal phalanges as the cardinal feature. Fujimoto et al. (1982) described an infant girl and a 14-year-old boy (Sugarman's proband), with the same mother but different fathers, who showed brachydactyly with major shortening in the proximal phalanges. The first toes were proximally placed and medially curved. The brother had no motion in the proximal interphalangeal joints of the hands. Both first toes had been surgically amputated. Radiographs of his hands (Fig. 7) showed a double first metacarpal bilaterally, a finding confirmed by examination of the original radiographs (Fujimoto, 1982). The fifth fingers had only 2 phalanges; the proximal and distal phalanges did not show bony fusion. The mother's hands were normal. Autosomal dominant inheritance with reduced penetrance was proposed by Fujimoto et al. (1982). The mother and the father of the older child were related as first cousins once removed. The mother was born in Cuba and the father of the younger child in El Salvador. A paternal aunt of the mother had 3 children (out of 8) with the same anomaly; the 3 had a total of 17 children, all without abnormality of the hands and feet. Consanguinity of the paternal aunt and her husband was claimed by Sugarman et al. (1974), but could not be confirmed by Fujimoto et al. (1982).
Limbs \- Brachydactyly \- Major shortening in proximal phalanges \- No proximal interphalangeal joint motion (symphalangism) \- Nonarticulating great toe \- Great toe set dorsal and proximal to the usual position Radiology \- Double first metacarpals Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SUGARMAN BRACHYDACTYLY | c0406726 | 28,786 | omim | https://www.omim.org/entry/272150 | 2019-09-22T16:21:59 | {"doid": ["0110979"], "mesh": ["C557817"], "omim": ["272150"], "orphanet": ["498602"], "synonyms": ["Alternative titles", "Sugarman-Hager-Kulik syndrome", "BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-10 (RP10) is caused by heterozygous mutation in the IMPDH1 gene (146690) on chromosome 7q32.
Heterozygous mutation in the IMPDH1 gene can also cause Leber congenital amaurosis-11 (LCA11; 613837).
Description
Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Jordan et al. (1993) reported a Spanish family with retinitis pigmentosa showing relatively early onset of symptoms (mean age of onset, 12.9 years).
Coussa et al. (2015) reported a 40-year-old French Canadian man with retinitis pigmentosa. The patient stated that he had decreased peripheral vision loss, color vision fluctuation, progressively worsening nyctalopia, and central vision decrease since early childhood. At examination, his visual acuity was 20/400 OD and 20/200 OS. The posterior pole was remarkable for classic bone spicules, severe fundus and optic nerve pallor, atrophic disc, attenuation and straightening of the blood vessels, and bull's-eye maculopathy with extensive concentric areas of clumped hyperpigmentation. FAF imaging showed central hypopigmented confluent islands surrounded by a hyperpigmented crescent. OCT was remarkable for severe foveal dipping, outer retinal tissue thinning, and cystic changes. The choroidal layer had diffuse cystic lesions also.
Mapping
In a Spanish family with early-onset retinitis pigmentosa, Jordan et al. (1993) found linkage to markers on 7q and excluded linkage to markers on 7p where a gene for adRP had been located by linkage by Inglehearn et al. (1993); see 180104.
In a large American family with late-onset autosomal dominant RP, McGuire et al. (1995) used microsatellite markers to demonstrate linkage to 7q. A maximum 2-point lod score of 5.3 at 0% recombination was found with D7S514. The linkage studies provided strong evidence that RP10 is located in the 7q31-q35 region.
In a second Spanish family with adRP, Millan et al. (1995) demonstrated linkage to 7q31-q35 with a maximum lod score of 3.01 for D7S480 by multipoint analysis.
McGuire et al. (1996) combined linkage results from the original Spanish family and an unrelated American family to assign the disease locus to a 5-cM interval on 7q. Based on extensive physical mapping of this region, the genetic interval was found to be contained fully within a segment of approximately 5 Mb on a well-defined YAC contig.
Molecular Genetics
By linkage mapping, Bowne et al. (2002) identified 2 American families with the RP10 form of adRP and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8. Ten retinal transcripts were identified among 54 independent genes within the candidate region, including IMPDH1. DNA sequencing of affected individuals from 3 RP10 families, 2 from the US and 1 from the UK, revealed an asp226-to-asn substitution in IMPDH1 (146690.0001). Asp226 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. Another IMPDH1 substitution, val268 to ile (146690.0002), was observed in one of a cohort of 60 adRP families but not in controls. IMPDH1 is a ubiquitously expressed enzyme, functioning as a homotetramer, which catalyzes the rate-limiting step in de novo synthesis of guanine nucleotides. As such, it may play an important role in cyclic nucleotide metabolism within photoreceptors.
Kennan et al. (2002) used microarray analysis to compare retinal transcript levels between wildtype mice and those with a targeted disruption of the rhodopsin gene (180380), designated Rho -/-. The IMPDH1 gene was identified among a series of transcripts present at reduced levels. Mutational screening of DNA from the Spanish adRP family reported by Jordan et al. (1993) revealed an arg224-to-pro substitution (R224P; 146690.0003) cosegregating with the disease phenotype. Arg224 is conserved among species, and the substitution was not present in a European control population.
Among 60 French Canadian patients with RP, Coussa et al. (2015) identified a causal mutation in 24 patients, one of whom had a heterozygous mutation in the IMPDH1 gene (Q318H; 146690.0006).
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Night blindness, progressive \- Visual field constriction, progressive \- Color vision fluctuation (rare) \- Reduced visual acuity (in some patients) \- Vitreous disturbance (in some patients) \- Posterior subcapsular cataracts (in some patients) \- Optic disc pallor \- Fundus pallor (in some patients) \- Attenuated retinal vessels \- Straightened retinal vessels (in some patients) \- Bone-spicule pattern of pigmentary deposits in retinal midperiphery \- Bulls-eye maculopathy (in some patients) \- Rod responses reduced or extinguished seen on electroretinography (ERG) \- Cone responses reduced or extinguished seen on ERG \- Central hypopigmented confluent islands seen on fundus autofluorescence (FAF) \- Hyperpigmented crescent seen on FAF \- Multiple diffuse parafoveal hypopigmented lesions seen on FAF \- Geographic atrophy seen on FAF \- Severe foveal 'dipping' seen on optical coherence tomography (OCT) \- Outer retinal tissue thinning seen on OCT \- Diffuse cystic-like lesions in choroidal layer seen on OCT MISCELLANEOUS \- Early onset of symptoms (first to third decades of life) in most patients \- Rapidly progressive in most patients \- Some patients declared legally blind in fourth decade of life \- Cone and rod responses equally reduced on ERGs MOLECULAR BASIS \- Caused by mutation in the IMP dehydrogenase-1 gene (IMPDH1, 146690.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RETINITIS PIGMENTOSA 10 | c0035334 | 28,787 | omim | https://www.omim.org/entry/180105 | 2019-09-22T16:35:10 | {"doid": ["0110388"], "mesh": ["D012174"], "omim": ["180105"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because of evidence that familial arrhythmogenic right ventricular dysplasia-1 (ARVD1) is caused by heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.
Description
Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics.
### Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular Dysplasia
Other forms of ARVD include ARVD2 (600996), caused by mutation in the RYR2 gene (180902) on chromosome 1q42-q43; ARVD3 (602086), on chromosome 14q12-q22; ARVD4 (602087), on chromosome 2q32.1-q32.3; ARVD5 (604400), caused by mutation in the TMEM43 gene (612048) on chromosome 3p23; ARVD6 (604401), on chromosome 10p14-p12; ARVD8 (607450), caused by mutation in the DSP gene (125647) on chromosome 6p24; ARVD9 (609040), caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ARVD10 (610193), caused by mutation in the DSG2 (125671) on chromosome 18q12.1; ARVD11 (610476), caused by mutation in the DSC2 gene (125645) on chromosome 18q12.1; ARVD12 (611528), caused by mutation in the JUP gene (173325) on chromosome 17q21; and ARVD13 (615616), caused by mutation in the CTNNA3 gene (607667) on chromosome 10q21.
ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1; 601419) caused by mutation in the DES gene (125660) on chromosome 2q35.
Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (190230), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.
Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.
Clinical Features
The major clinical features of ARVD are different types of arrhythmias with a left branch block pattern. The natural history is rarely characterized by cardiac failure, which is only present in those few patients with the cardiomegalic form. Syncopal attacks and sudden death due to ventricular fibrillation are possible, but usually the arrhythmias are well tolerated. Affected individuals often have good exercise tolerance and do not have a history of previous myocarditis (Nava et al., 1992). The most important electrocardiographic abnormalities are T-wave inversion in the right precordial leads and the presence of late potentials in signal averaging ECG. The diagnosis of right ventricular cardiomyopathy is based on echocardiographic and angiographic documentation of localized or widespread structural and dynamic abnormalities involving mainly or exclusively the right ventricle, in the absence of valve disease, shunts, active myocarditis, and coronary disease (McKenna et al., 1994). Endomyocardial biopsy (Angelini et al., 1993) is useful in the differential diagnosis.
Laurent et al. (1987) described a family with 4 proven cases and 7 strongly suggestive cases. Laurent et al. (1987) referred to earlier reports of probable (Marcus et al., 1982) or documented (Ruder et al., 1985) instances of familial ARVD. They also pointed to the occurrence of familial right ventricular dilated cardiomyopathy (Ibsen et al., 1985), which may represent the same disorder. Ibsen et al. (1985) reported the cases of 3 (out of 6) sibs who suffered from cardiomyopathy characterized by life-threatening supraventricular and ventricular arrhythmias, sinoatrial block, atrioventricular block, and, in 1 patient, embolism. Dilatation of the right ventricle predominated. Death occurred at ages 32 and 48 years in 2 of the sibs. Investigation of 33 other family members in 3 generations uncovered no further cases.
Pinamonti et al. (1996) described a father and daughter with right ventricular dysplasia. Both presented with ventricular arrhythmias for which they were evaluated at 28 and 12 years of age, respectively. The father subsequently had a 'flu-like' syndrome, heart failure, and biventricular dysfunction; 'active' myocarditis was found at endomyocardial biopsy. He died suddenly at the age of 35 years. The daughter died at the age of 18 years after a slowly progressive increase in dyspnea and peripheral edema. In both patients, necropsy showed severe right ventricular atrophy and fibro-adipose substitution associated with biventricular fibrosis. In the father, inflammatory infiltration was also present.
In an analysis of specimens obtained at autopsy from a right ventricular myocardium of 8 patients with arrhythmogenic right ventricular dysplasia, Mallat et al. (1996) found that evidence of apoptosis was detectable in 6 and was absent in all of 4 age-matched normal controls. High levels of expression of apopain (600636) were associated with positive in situ end-labeling of fragmented DNA. They concluded that apoptotic myocardial cell death may contribute to loss of myocardial cells in this disorder.
To establish whether apoptosis is present in ARVC to account for the progressive loss of myocardium, Valente et al. (1998) examined right ventricular endomyocardial biopsies from 20 patients with ARVC by electron microscopy and terminal deoxynucleotidyltransferase-mediated dUTP-biotin nick end-labeling method (TUNEL). Apoptotic index was calculated as the percentage of positive nuclei in sections stained by TUNEL. Twenty biopsies taken from patients during monitoring of cardiac transplantation, with no signs of rejection, served as control. Electron microscopy and TUNEL revealed the presence of apoptotic myocytes in 7 cases (35%), with a mean apoptotic index of 24.4. The remaining 13 patients and all of the 20 controls were negative both by electron microscopy and by TUNEL. The presence of apoptosis appeared to be significantly related to clinical history duration of less than 6 months and presence of acute symptoms and signs such as angina, pyrexia, elevated erythrocyte sedimentation rate and creatine phosphokinase, and ST segment elevation on basal electrocardiogram. This suggested that myocardial destruction with replacement by fat may be episodic rather than gradual and continuous.
Kearney et al. (1995) described 3 sibs with right ventricular dysplasia. A brother died at age 13. Both twin sisters underwent cardiac transplantation at age 11. Histologic sections showed striking fatty infiltration of the right ventricle with focal complete transmural lipomatosis. Extensive fatty infiltration of the right ventricular myocardium was also found in a posttransplantation biopsy from one of the sisters 4.5 years after cardiac transplantation. Echocardiography on both parents of the 3 sibs reported by Kearney et al. (1995) were normal, suggesting autosomal recessive inheritance in this family.
Corrado et al. (1996) reported a family in which familial cardiomyopathy, mainly involving the right ventricular myocardium and the specialized conduction system, was thought to account for ECG changes and electrical instability. The proband died suddenly at age 35 years; 5 years earlier he had undergone detailed clinical evaluation after an episode of cardiac arrest. Autopsy revealed right ventricular cardiomyopathic changes with myocardial atrophy and adipose replacement of the right ventricular free wall. Among 7 surviving family members with ECG changes, 4 exhibited electrocardial signs of structural and right ventricular abnormalities as well as late potentials on signal-averaged electrocardiography. One patient had fibril fatty replacement on right endomyocardial biopsy and inducible ventricular tachycardia with a left bundle branch block configuration during programmed right ventricular stimulation. The disorder described by Corrado et al. (1996) may be the same as arrhythmogenic right ventricular dysplasia-1.
In a clinicopathologic conference, Huhta et al. (2002) discussed the case of a 15-year-old boy with stress-induced arrhythmia and sudden death, and provided a useful differential diagnosis.
Fontaine et al. (1999) provided an extensive review of arrhythmogenic right ventricular dysplasia.
Population Genetics
Rampazzo (1993) stated that ARVD is unusually frequent in northern Italy; 14 families were diagnosed in the cardiology department of Padua University. Four families from the Piazzola sul Brenta region, descended from a common ancestor, were grouped together into a large 4-generation kindred in which special studies permitted the diagnosis of ARVD in 19 persons. Rampazzo et al. (1994) estimated the prevalence of ARVD in the Veneto region at 6 per 10,000 and in the Piazzola sul Brenta region at 4.4 per 1,000.
Mapping
Rampazzo et al. (1994) performed linkage studies in 2 large Italian families, 1 of which had 19 affected members in 4 generations. A maximum lod score of 6.04 was obtained (theta = 0.0) for linkage with marker D14S42, located at 14q23-q24. Rampazzo et al. (2003) performed linkage analysis of another family with ARVD from northern Italy and confirmed the assignment to 14q23-q24. Maximum lod scores were obtained with markers D14S254 (lod = 4.41) and D14S983 (lod = 4.06).
Severini et al. (1996) studied linkage in 3 ARVD families of various descent: Italian, Slovenian, and Belgian. They found linkage to markers thought to be in a more proximal portion of 14q, namely 14q12-q22. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257. They interpreted this to indicate that mutation at either of 2 distinct loci on chromosome 14 can give rise to ARVD. They proposed to designate the proximal form as ARVD2; this designation had been preempted, however, for the distal locus, and the proximal locus was designated ARVD3.
Molecular Genetics
In 9 affected and 3 unaffected members of a 4-generation Italian family with ARVD1, previously reported by Rampazzo et al. (2003), Beffagna et al. (2005) identified a heterozygous mutation (190230.0001) in the 5-prime UTR of the TGFB3 gene. Subsequent screening of 30 unrelated individuals with ARVD1 led to the identification of an additional mutation (190230.0002) in the 3-prime UTR of the TGFB3 gene in 1 patient. In transfection studies, both mutations showed significantly higher luciferase reporter activity (about 2.5-fold, p less than 0.01) compared to wildtype. All clinically affected members of the Italian family had the mutation; Beffagna et al. (2005) stated that detection of the mutation in 3 apparently healthy individuals was consistent with reduced penetrance, as observed in families with ARVD2 (600996) and ARVD8 (607450). No mutations in TGFB3 were detected in affected members of another Italian family and a family from southern Germany (both previously linked to the ARVD1 locus by Rampazzo et al. (1994) and Rampazzo et al. (2003), respectively).
Campuzano et al. (2013) reviewed the genetics of ARVD, noting that in 35 to 40% of patients, no causal mutation had been identified. They stated that incomplete penetrance and variable expressivity are hallmarks of ARVD, making it difficult for clinicians to evaluate the risk of developing the disease.
### Exclusion Studies
In 2 families with ARVD, Rampazzo et al. (2003) screened the exonic sequences of 4 candidate genes included in the critical region of 14q23-q24 that are expressed in the heart (POMT2, 607439; TGFB3, 190230; KIAA1036, 609011; and KIAA0759), and found no causative mutations.
Animal Model
Basso et al. (2004) studied 23 boxer dogs that had ventricular ectopy or syncope and that had died or were euthanized. All of the dogs had severe right ventricular myocyte loss with fatty or fibrofatty replacement (65% and 35%, respectively), which was not seen in controls. Familial transmission was evident in 10 of the 23. Basso et al. (2004) concluded that this represents a genetically transmitted animal model of ARVD associated with sudden death in the boxer dog. In this canine model of ARVD, Meurs et al. (2010) identified a heterozygous mutation in the STRN gene (614765).
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Cardiomyopathy, right ventricular \- Fibrofatty replacement of right ventricular myocardium \- Ventricular arrhythmia (PVC, NSVT, and VT) \- Premature sudden cardiac death MISCELLANEOUS \- Genetic heterogeneity MOLECULAR BASIS \- Caused by mutation in the transforming growth factor, beta-3 gene (TGFB3, 190230.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 | c0265857 | 28,788 | omim | https://www.omim.org/entry/107970 | 2019-09-22T16:44:46 | {"doid": ["0110070"], "mesh": ["C536932"], "omim": ["107970"], "icd-10": ["Q24.8"], "orphanet": ["217656", "293888", "293910", "293899", "3403"], "synonyms": ["Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form", "Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form", "Familial isolated arrhythmogenic ventricular dysplasia, classic form", "Familial isolated ARVD", "Familial isolated ARVC", "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1", "Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhythmogenic ventricular cardiomyopathy", "Familial isolated arrhythmogenic right ventricular cardiomyopathy", "Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form"], "genereviews": ["NBK1131"]} |
A number sign (#) is used with this entry because multiple types of cataract are caused by heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2; 603212) on chromosome 3q22.
Description
Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.
Clinical Features
Kramer et al. (2000) studied 12 affected and 13 unaffected members of a 4-generation family with autosomal dominant congenital cataract. Affected family members had congenital nuclear and sutural cataracts of variable severity, with some family members undergoing surgery in childhood and others never requiring surgery. One 20-year-old female with visual acuities of 20/40 OD and 20/30 OS had striking anterior and posterior sutural opacities with some smaller scattered whitish cortical opacities and radially oriented fine vacuoles. Jakobs et al. (2000) studied this family further and stated that the cataract phenotypes included stellate or spoke-like cortical cataracts, and that the mildest expression of the cataract was that of spoke-like anterior and posterior subcapsular cortical opacities with a ground-glass appearance throughout the cataract and, most notably, the above-mentioned radially oriented fine vacuoles.
Conley et al. (2000) reported a 5-generation family segregating juvenile-onset progressive cataract. Age at onset ranged from 8 years to the late 20s; no individuals were diagnosed with cataracts at birth. The earliest reported findings were a general haze of the lens with prominent sutures, developing into lamellar cataracts in 3 cases, cortical cataract in 3 cases, 'scattered lens opacities' in 1 case, and nuclear embryonic cataract with central snowflake in 1 case. One patient was noted to have optic nerve deformity with bilateral amblyopia. Visual acuity ranged from moderate to severe myopia in 8 of 11 affected individuals in whom measurements were reported; none had 20/20 visual acuity. Conley et al. (2000) stated that the sutural opacities and cortical changes described in the presurgical 20-year-old female by Kramer et al. (2000) were very similar to the cataracts observed in several family members in their study.
Zhang et al. (2004) studied 12 of 15 affected members of a 4-generation Han Chinese family segregating autosomal dominant Y-sutural cataract and myopia. All 12 affected individuals had bilateral isolated Y-shaped sutural cataracts, with the white lens opacity linearly superimposed on the branches of the anterior Y- and posterior inverted Y-sutures, giving a feather-duster appearance to each branch. In a 4-year-old boy, mild opacity of the Y-sutures was the only sign of cataract, with the remainder of the lens clear. Affected children and their parents were generally unaware of visual problems before 7 years of age, at which time they experienced decreased visual acuity, although it was unclear whether this was due to the cataract or the accompanying myopia. The authors noted that the myopia in this family was more likely related to axial length than to lens changes, since ocular axial length was increased in the 5 affected individuals for whom records were available. In addition to the Y-sutural opacity, patients developed slowly progressive punctate cortical opacities around the third decade and later.
Mapping
Kramer et al. (2000) performed linkage analysis in a large 4-generation family segregating autosomal dominant congenital nuclear and sutural cataracts and obtained a maximum multipoint lod score of 6.94 across a 0.4-cM region between markers D3S3674 and D3S3612 on chromosome 3q21-q22.3; the maximum 2-point lod score was obtained at D3S1273 (6.65 at theta = 0).
Conley et al. (2000) performed linkage analysis in 29 members of the 5-generation family with autosomal dominant juvenile-onset cataracts and obtained a maximum 2-point lod score of 3.67 (theta = 0.07) at marker D3S1744 on chromosome 3q21.2-q22.3. Multipoint linkage analysis was suggestive for an estimated 14-cM interval flanked by markers D3S1267 and D3S3612.
Zhang et al. (2004) performed linkage analysis in 12 affected and 12 unaffected members of a 4-generation Han Chinese family with autosomal dominant Y-sutural cataract and myopia and obtained a maximum lod score of 5.72 (theta = 0) at D3S1292; recombination events defined an 11.4-cM (13.5-Mb) region between D2S3606 and D3S1309. Linkage analysis of myopia performed independently of cataract while varying the penetrance and phenocopy rate yielded a maximum lod score of 3.79 at D3S1292 with full penetrance and a 6% phenocopy rate.
Molecular Genetics
In affected members of a 5-generation family with autosomal dominant juvenile-onset cataract, Conley et al. (2000) identified a missense mutation in the BFSP2 gene (R287W; 603212.0001). The mutation was not found in 96 unrelated control individuals; however, 1 unaffected 29-year-old female family member carried the mutation, suggesting that the mutation was not fully penetrant or that the age-at-onset spectrum in this family was quite broad.
In affected members of a 4-generation family with autosomal dominant congenital cataract previously described by Kramer et al. (2000), Jakobs et al. (2000) identified an in-frame deletion in the BFSP2 gene (E233del; 603212.0002).
In 12 affected individuals of a 4-generation Han Chinese pedigree with Y-sutural cataract and myopia mapping to 3q22, Zhang et al. (2004) identified heterozygosity for the E233del mutation in the BFSP2 gene. The mutation was not found in 12 unaffected members of the family or in 384 unrelated Han Chinese control chromosomes.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Cataract, congenital (nuclear, sutural, or stellate cortical) \- Cataract, progressive, juvenile-onset (lamellar, cortical, nuclear embryonic, or Y-sutural) \- Cataract, adult-onset (punctate cortical) \- Myopia MISCELLANEOUS \- Phenotype may or may not be consistent within a family. MOLECULAR BASIS \- Caused by mutation in the gene encoding the beaded filament structural protein 2 (BFSP2, 603212.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CATARACT 12, MULTIPLE TYPES | c3808115 | 28,789 | omim | https://www.omim.org/entry/611597 | 2019-09-22T16:03:05 | {"doid": ["0110239"], "omim": ["611597"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that polycystic liver disease-2 with or without kidney cysts (PCLD2) is caused by heterozygous mutation in the SEC63 gene (608648) on chromosome 6q21.
Description
PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).
For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050).
Clinical Features
Pirson et al. (1996) reported a 3-generation family with adult polycystic liver disease. The proband was a 61-year-old man with highly symptomatic PCLD, who was diagnosed at age 50. The patient's mother also had massive PCLD without known kidney disease; she died of cancer of unknown origin at age 80. The proband's sister had extensive PCLD with mild hepatomegaly and without kidney cysts. The proband's daughter had marked PCLD with normal liver size, but the proband's son had no liver cysts. Information added in proof seemed to establish the autosomal dominant inheritance of the disorder: a 56-year-old maternal first cousin of the proband was found to have extensive PCLD with mild hepatomegaly without cysts in the kidneys, pancreas, or spleen. He presumably inherited the disorder from his father, the maternal uncle of the proband. Kidney cysts were not reported in this family.
Davila et al. (2004) reported 8 unrelated families in which several members had liver cysts. Several of the families had previously been reported, including the family reported by Pirson et al. (1996). Detailed clinical information was not provided in the report of Davila et al. (2004).
Inheritance
The transmission pattern of PCLD2 in the families reported by Davila et al. (2004) was consistent with autosomal dominant inheritance.
Mapping
Davila et al. (2004) performed genomewide linkage analysis on 10 individuals with autosomal dominant PCLD from multiply affected families in whom mutations in the PRKCSH gene (177060) were excluded. They found linkage to chromosome 6q21-q23.
Molecular Genetics
In affected members of 8 families with autosomal PCLD2 without kidney cysts, Davila et al. (2004) identified 7 heterozygous mutations in the SEC63 gene (see, e.g., 608648.0001-608648.0004). A nonsense mutation (W58X; 608648.0001) occurred in 2 probands from the central U.S. who were not known to be related. Three probands from Finland had different mutations (608648.0002, 608648.0003, and 608648.0004). The mutations were found by linkage analysis followed by candidate gene sequencing. Functional studies of the variant and studies of patient cells were not performed. Although cysts occurred only in the liver, SEC63 was expressed in all tissues tested. The final count indicated mutations in SEC63 in 8 of 66 probands (approximately 12%) in their sample that included both familial cases and individual probands not known to have a positive family history. Mutations in PRKCSH and SEC63 together account for less than one-third of autosomal dominant PCLD cases, indicating that there is at least 1 more locus associated with this disease. The SEC63 gene encodes a component of the protein translocation machinery in the endoplasmic reticulum; the PRKCSH gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. Thus, these findings together suggest a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial endoplasmic reticulum proteins in human polycystic disease.
INHERITANCE \- Autosomal dominant ABDOMEN Liver \- Liver cysts \- Hepatomegaly GENITOURINARY Kidneys \- Renal cysts, few (in some patients) MISCELLANEOUS \- Adult onset \- Kidney cysts are usually incidental findings and do not cause significant renal disease MOLECULAR BASIS \- Caused by mutation in the gene encoding the human homolog of S. cerevisiae Sec63 (SEC63, 608648.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | c0158683 | 28,790 | omim | https://www.omim.org/entry/617004 | 2019-09-22T15:47:15 | {"mesh": ["C536330"], "omim": ["617004"], "orphanet": ["2924"]} |
A number sign (#) is used with this entry because of evidence that generalized arterial calcification of infancy-1 (GACI1) is caused by homozygous or compound heterozygous mutation in the ENPP1 gene (173335) on chromosome 6q23.
Mutation in ENPP1 also causes an autosomal recessive form of hypophosphatemic rickets (see ARHR2, 613312).
Description
Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005).
### Genetic Heterogeneity of Arterial Calcification
Generalized arterial calcification of infancy-2 (GACI2; 614473) is caused by mutation in the ABCC6 gene (603234) on chromosome 16p13.
Homozygous or compound heterozygous mutation in the NT5E gene (129190) can cause adult-onset of calcification of arteries and joints (211800).
Clinical Features
Generalized arterial calcification has been noted in multiple sibs (Hunt and Leys, 1957). It may be fundamentally a defect of elastic fiber. Calcification occurs particularly in the internal elastic lamina. Material with the staining properties of mucopolysaccharide accumulates around the elastic fibers. Fine calcium incrustation of the lamina is the minimal lesion. Later the lamina is ruptured and occlusive changes in the intima take place. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with EKG changes of occlusive coronary artery disease suggests the diagnosis.
Menten and Fetterman (1948) described 3 male infants, 2 of them brothers, who all died between 7 and 8 weeks of life with cyanosis and respiratory difficulty. Autopsy revealed generalized arteriosclerosis, with medial sclerosis of multiple arteries, including the coronary, pulmonary, gastric, mesenteric, renal, and hepatic arteries; in addition, there was cardiac hypertrophy and coronary artery stenosis with myocardial infarction. The 2 brothers, who had an older sib who died under similar conditions at about the same age, were also noted to have parenchymatous degeneration of the kidneys, and the other patient had glomerulosclerosis. Menten and Fetterman (1948) stated that the disease process, where well advanced, actually involved all 3 arterial coats, and might be termed a 'diffuse' arterial sclerosis.
Raphael et al. (1970) reported 2 brothers who died in respiratory distress after lengthy hospitalizations at 3 months and 5 months of age, respectively. Autopsy showed left ventricular hypertrophy and calcific changes involving arteries in many organs, consisting of replacement of the elastica by dense, sharply delineated calcific material. Endocardial fibroelastosis was seen on microscopic examination in 1 patient but not the other. No evidence of renal or bone disease was seen in either case. One of the brothers had a twin sib who died at 8 days of age, reportedly of pneumonia, but no autopsy was performed.
Witzleben (1970) suggested that calcification has been overemphasized and is really only a secondary phenomenon. 'Infantile coronary sclerosis' is too restrictive in its topographic implications. He suggested 'occlusive infantile arteriopathy' as the preferred term.
Sholler et al. (1984) reported 3 unrelated patients. One was 7 years old at the time of report and showed spontaneous regression of calcification.
One of 2 affected sibs reported by Anderson et al. (1985) had an extensive acute panarteritis suggesting to the authors that IIAC may be the result of an inflammatory or infectious process. Ultrastructural examination confirmed that the deposits are hydroxyapatite and showed further a content of iron. No matrix vesicles or mitochondrial calcifications that might serve as nucleation sites for crystalline calcium phosphate were found. They raised the possibility that altered iron metabolism may be involved in the pathogenesis.
Van Dyck et al. (1989) described an infant in whom the diagnosis was made at age 2 weeks and therapy with diphosphonate resulted in complete resolution of vascular calcification. At the age of 2 years the child was 'doing well' but required medical treatment for arterial hypertension.
Stuart et al. (1990) described the disorder in 2 sibs. In the second-born sib, serial fetal echocardiography showed the development of pericardial effusion and calcification of the great vessels by 33 weeks of gestation. One sib died at 11 weeks and the other at 6 weeks of age. Diphosphonate was of no apparent benefit. Although survival to adulthood has been reported (Sholler et al., 1984; Marrott et al., 1984), most patients die in the first 6 months of life.
Rutsch et al. (2008) performed retrospective observational analysis of 55 GACI patients, 19 (34%) of whom survived infancy. In the 8 surviving patients who were tested, all developed hypophosphatemia due to reduced renal tubular phosphate resorption during childhood. Eleven (65%) of 17 patients treated with bisphosphonates survived, whereas only 8 (31%) of 26 patients who survived the first day of life and were not treated with bisphosphonates survived beyond infancy.
### Intrafamilial Phenotypic Variability
Cheng et al. (2005) studied 2 Taiwanese sibs with generalized arterial calcification of infancy who had markedly different clinical courses despite their identical genotype (see MOLECULAR GENETICS) and similar sonographic and radiographic findings: the male infant died with severe heart failure and hypertension at the age of 6 weeks, whereas the female infant was clinically well upon examination at 18 months of age, with normal growth and psychomotor development and normal blood pressure.
Dlamini et al. (2009) reported 3 Caucasian sibs with GACI and striking phenotypic variability. The proband was a 5-year-old boy who had left ventricular hypertrophy noted in infancy and developed hypertension at 14 months of age; arch aortogram showed severe stenosis of the celiac axis, superior mesenteric artery, renal arteries, and both internal and external carotid arteries, and coronary angiography showed normal caliber coronary arteries with no calcification. The proband had 2 deceased younger sibs: a female sib was stillborn, in whom ultrasound at 30 weeks' gestation had shown echogenicity of the myocardium and aortic root suggestive of calcification, and a male sib died 12 hours after birth from myocardial infarction, in whom intracardiac calcification was detected prenatally. Review of the proband's radiographs and echocardiography showed no evidence of typical GACI calcification; however, reevaluation by CT scan revealed high-density foci compatible with calcification in the left internal carotid artery siphon, cervical portions of the common carotid and right brachiocephalic arteries, aortic root, and descending aorta. The proband and his male sib were found to be compound heterozygous for the same ENPP1 mutations (see MOLECULAR GENETICS). At 5 years of age, the proband was healthy and developmentally age-appropriate, on antihypertensive and antiplatelet agents. Dlamini et al. (2009) concluded that GACI may be underrecognized and suggested that the diagnosis should be considered in patients with multiple arterial stenoses even in the absence of radiographic calcification.
### Features of Pseudoxanthoma Elasticum in GACI Patients
Nitschke et al. (2012) described 3 unrelated GACI patients with homozygous or compound heterozygous ENNP1 mutations (see MOLECULAR GENETICS) who developed clinical features of pseudoxanthoma elasticum in later childhood. One boy with GACI, who was previously studied by Dlamini et al. (2009), developed at 8 years of age pseudoxanthomatous skin lesions around his umbilicus and on his neck, which were histologically proven to be typical PXE lesions. A 12-year-old French boy, born of consanguineous parents, was diagnosed with GACI in the neonatal period and treated with oral bisphosphonates, resulting in disappearance of the ectopic calcifications. At 9 years of age, he presented with yellowish papules on the neck and periumbilical region and large angiomatous atrophic macules on the anterior chest. He also had abnormal calcifications of the ear cartilage, cervical fusion between C3 and C5, and microcalcifications of the left kidney, but no cardiovascular or ophthalmologic calcifications were detected. He had short stature with progressive genu valgum, and radiologic signs of rickets were present; he was found to have hypophosphatemia with decreased renal phosphate reabsorption, normal vitamin D levels, and normal glomerular filtration rate. Reexamination at 12 years of age showed development of otosclerosis with stapedovestibular ankylosis, resulting in hearing loss. An eye exam showed no angioid streaks. Histopathologic studies of the yellowish neck papules confirmed the diagnosis of PXE, with calcium deposits in elastic fibers that were stained by carboxylated, but not noncarboxylated, anti-MGP (154870) antibodies. The patient's mother also presented with yellow papules characteristic for PXE, and his 9-year-old sister had angiomatous linear lesions of the left flank. The other GACI patient with features of PXE was a 5-year-old French girl with short stature, hypophosphatemic rickets, and cardiovascular, pancreatic, hepatic, and renal calcifications, who developed diffuse angiomatous lesions on her back and had angioid streaks in the Bruch membrane of the retina that were typical for PXE. She did not have any pseudoxanthomatous skin lesions. At 4 years of age, she had also developed conductive deafness and required hearing aids.
### Dental Features in GACI Survivors
Thumbigere-Math et al. (2018) studied the teeth of 5 unrelated patients with GACI, including patients previously reported by Li et al. (2012), Rutsch et al. (2008), and Ferreira et al. (2016) (patients 2, 4, and 5). All presented significant hypercementosis of cervical cementum, with radiographic evidence of unusually protruding cervical root morphology, in primary and/or secondary dentition. Dental histories of 4 of the patients included evidence for infraocclusion, overretained primary teeth, possible ankylosis, and/or ineffective orthodontic tooth movement, suggesting altered mineral metabolism contributing to disrupted tooth movement and exfoliation. High-resolution micro-CT analyses of extracted primary teeth from 3 of the patients revealed a 4-fold increased cervical cementum thickness and a 23% increase in cementum mineral density compared to age-matched healthy control teeth. There were no differences in enamel or dentin densities between GACI patients and controls. Histologic examination showed markedly expanded cervical cementum in GACI teeth, including cementocyte-like cells and unusual patterns of cementum resorption and repair.
Clinical Management
Ferreira et al. (2016) reported a 22-year-old man who was diagnosed with GACI at age 6 weeks, at which time he was tachycardic with left ventricular hypertrophy and poor systolic function, and had hepatomegaly and splenomegaly. Cardiac catheterization revealed severe attenuation of the left coronary artery with subtotal occlusion of the first obtuse marginal branch and occlusion proximal to the circumflex, and proximal occlusion of the right coronary artery. CT scan showed calcification of the descending aorta as well as the coronary, brachial, renal, splenic, and superior mesenteric arteries. Bisphosphonate treatment ameliorated his cardiac function, and CT scan at 7 months of age showed reduced calcifications. At 13 months, the calcifications had regressed completely except for mild calcification of the aortic annulus, and bisphosphonate treatment was discontinued at 24 months of age. At age 13 years, the patient developed progressive pain in the ankles and knees, and x-rays showed significant anterior bowing and thinning of the lower ends of both femora. He was diagnosed with hypophosphatemic rickets at 14.5 years of age and treated with phosphorus and calcium supplementation. At 22 years of age, multidetector helical CT from neck to legs revealed minimal calcification of the aortic root, inferior portion of the heart, and left popliteal artery, with no calcifications elsewhere, including no nephrocalcinosis. Anterior femoral bowing was noted. Cardiac CT showed no coronary artery calcification. The authors concluded that long-term treatment of rickets in the setting of GACI can be accomplished without worsening of vascular calcifications.
Molecular Genetics
Spontaneous periarticular and aortic calcifications in early life and systemic lowering of nucleotide pyrophosphatase/phosphodiesterase (NPP) activity and inorganic pyrophosphate levels are shared features of the phenotype of idiopathic infantile arterial calcification (IIAC) and of homozygous 'tiptoe walking' (ttw/ttw) mice, which carry a spontaneous nonsense mutation in Enpp1 (Okawa et al., 1998; Rutsch et al., 2001). Rutsch et al. (2001) found reduced levels of expression of ENNP1 in an individual with IIAC born to consanguineous parents and demonstrated heterozygosity for a mutation at the ENNP1 locus (173335.0002). Using a high-density microsatellite marker panel for 6q, the site of the ENPP1 gene, Rutsch et al. (2003) identified a recombination event in this proband that had obscured homozygosity with respect to the critical region. Screening for mutations in ENPP1 in 11 unrelated families with IIAC found mutations in 8 of them, either in homozygous or compound heterozygous state, compatible with a functional inactivation of both alleles. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase-1, a cell surface enzyme that generates inorganic pyrophosphate, a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Lorenz-Depiereux et al. (2010) restudied 1 of the families previously described by Rutsch et al. (2003) ('family 4') and identified homozygosity for a missense mutation in the ENPP1 gene (173335.0011) in a father and son with different phenotypes: the son had generalized arterial calcification of infancy (GACI) and hypophosphatemia, whereas his father had hypophosphatemic rickets (ARHR2; 613312). Ultrasound examination of large blood vessels in the father showed normal carotid and renal arteries and a normal thoracic and abdominal aorta.
In a Taiwanese brother and sister with GACI who had markedly different clinical courses, Cheng et al. (2005) identified compound heterozygosity for missense mutations in the ENPP1 gene (see 173335.0008 and 173335.0009).
Rutsch et al. (2008) identified homozygosity or compound heterozygosity for 40 different mutations in the ENPP1 gene in 41 (75%) of 55 GACI patients. The most frequently detected mutation was P305T (173335.0016); Rutsch et al. (2008) noted that P305T was universally lethal when present on both alleles, but stated that no other clear genotype/phenotype correlation was seen.
In 2 Caucasian brothers with GACI, 1 deceased of myocardial infarction 12 hours after birth and 1 healthy at 5 years of age, Dlamini et al. (2009) identified compound heterozygosity for a missense and a 2-bp deletion in the ENPP1 gene (173335.0014 and 173335.0015). Nitschke et al. (2012) provided follow-up on the living brother, who at 8 years of age developed pseudoxanthomatous skin lesions that were histologically proven to be typical of pseudoxanthoma elasticum.
In 2 patients with GACI, a 12-year-old French boy and an unrelated 5-year-old French girl, who developed features of PXE in later childhood, Nitschke et al. (2012) identified homozygous and compound heterozygous mutations in the ENNP1 gene (see, e.g., 173335.0017-173335.0019, respectively).
In a 22-year-old man with GACI who underwent bisphosphonate treatment with near-total resolution of arterial calcifications by age 2 years (see CLINICAL MANAGEMENT), Ferreira et al. (2016) reported compound heterozygosity for missense mutations in the ENPP1 gene, R481Q and Y471C. In adolescence, the patient developed hypophosphatemic rickets, which was treated with phosphorus and calcium supplementation without any worsening of vascular calcifications.
Animal Model
Using high-resolution micro-CT, Thumbigere-Math et al. (2018) analyzed the mandibular molars of Enpp1-null mice and observed a 4-fold increased cervical cementum thickness and 5-fold increase in volume compared to wildtype mice, as well as a nonsignificant 5% increase in mineral density. Apically located cellular cementum showed significantly increased volume and height on the mesial root surface, but no change in thickness or density in the null mice compared to wildtype. The authors noted that histologically the molars of Enpp1-null mice resembled those of GACI patients, including dramatically expanded cervical cementum with abnormal inclusion of embedded nucleated cementocyte-like cells and lacunae.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature (in some patients) HEAD & NECK Ears \- Deafness, conductive (in some patients) Eyes \- Angioid retinal streaks (in some patients) Teeth \- Infraocclusion \- Overretained primary teeth \- Ankylosis \- Reduced tooth movement with orthodontic treatment \- Hypercementosis of cervical cementum \- Protruding cervical root morphology (in primary and/or secondary dentition) \- Increased cervical cementum thickness \- Increased cervical cementum mineral density \- Cementocyte-like cells in cervical cementum \- Lacunae in cervical cementum Neck \- Pseudoxanthomatous skin lesions (in some patients) CARDIOVASCULAR Heart \- Coronary artery calcification \- Myocardial infarction \- Cardiac dysfunction \- Heart failure Vascular \- Generalized calcification of arteries, including aorta and intraparenchymal arteries \- Arterial stenosis due to myointimal proliferation \- Hypertension \- Panarteritis (rare) ABDOMEN External Features \- Periumbilical pseudoxanthomatous skin lesions (in some patients) SKELETAL \- Periarticular calcification (in some patients) \- Hypophosphatemic rickets (in some patients) SKIN, NAILS, & HAIR Skin \- Pseudoxanthomatous skin lesions (in some patients) METABOLIC FEATURES \- Hypophosphatemia due to decreased renal tubular phosphate reabsorption MISCELLANEOUS \- Most patients die in infancy \- Features of pseudoxanthoma elasticum seen in later childhood in some surviving patients MOLECULAR BASIS \- Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, 173335.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | c0264955 | 28,791 | omim | https://www.omim.org/entry/208000 | 2019-09-22T16:30:51 | {"doid": ["0050644"], "omim": ["208000"], "orphanet": ["51608"], "synonyms": ["Alternative titles", "GACI", "IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION", "ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE", "ARTERIOPATHY, OCCLUSIVE INFANTILE"], "genereviews": ["NBK253403"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
Clinical Features
Orlacchio et al. (2005) reported a large family of Scottish descent in which 19 members were affected with spastic paraplegia inherited in an autosomal dominant pattern. The mean age at onset was 15.2 years, and most patients had spasticity and hyperreflexia of the lower limbs with extensor plantar responses. Two patients had hyperreflexia of the upper limbs. Other features included sensorineural hearing impairment, pes cavus, clonus, and neonatal hyperbilirubinemia without kernicterus. Six patients had urinary urgency due to detrusor muscle hyperactivity. Thirteen patients had a hiatal hernia, including 10 paraesophageal and 3 sliding. There was a general impression of genetic anticipation, manifest by earlier age at onset and increasing disease severity in subsequent generations.
Mapping
By genomewide analysis of a Scottish family with autosomal dominant spastic paraplegia, Orlacchio et al. (2005) identified a 22.3-cM candidate disease locus, designated SPG29, on chromosome 1p31.1-p21.1 (maximum multipoint lod score of 7.80 at marker D1S2865). Affected family members shared a common haplotype flanked by D1S2889 and D1S248.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural, due to auditory neuropathy ABDOMEN Gastrointestinal \- Hiatal hernia \- Paraesophageal hernia \- Sliding hernia \- Persistent vomiting GENITOURINARY Bladder \- Detrusor muscle hyperactivity \- Urinary urgency \- Urge incontinence \- Nocturia \- Hesitancy \- Diminished force of urine stream SKELETAL Feet \- Pes cavus NEUROLOGIC Central Nervous System \- Spastic paraplegia \- Lower limb spasticity \- Upper limb spasticity \- Hyperreflexia \- Clonus \- Extensor plantar responses Peripheral Nervous System \- Decreased vibratory sense (less common) \- Decreased joint position sense (less common) LABORATORY ABNORMALITIES \- Hyperbilirubinemia, neonatal MISCELLANEOUS \- Mean age at onset 15.2 years \- Genetic anticipation ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT | c1857855 | 28,792 | omim | https://www.omim.org/entry/609727 | 2019-09-22T16:05:39 | {"doid": ["0110780"], "mesh": ["C536863"], "omim": ["609727"], "orphanet": ["101009"]} |
Sepiapterin reductase deficiency
Other namesSPR deficiency[1]
Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures.[2] Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but due to a lack of overall awareness and a series of atypical procedures used to diagnose this condition pose a dilemma.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Cognitive problems
* 1.2 Motor problems
* 2 Causes
* 3 Diagnosis
* 3.1 CSF neurotransmitter screening
* 4 Treatment
* 4.1 Levodopa and Carbidopa
* 5 Case Studies
* 5.1 Autosomal Recessive DOPA-responsive Dystonia
* 5.2 Homozygous Mutation causing Parkinsonism
* 5.3 Quantification of Sepiapterin in CSF
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Cognitive problems[edit]
* Intellectual disability: Delay in cognitive development
* Extreme mood swings
* Language delay[4]
### Motor problems[edit]
* Dystonia: involuntary muscle contractions
* Axial hypotonia: low muscle tone and strength[5]
* Dysarthria: impairment in muscles used for speech
* Muscle stiffness and tremors
* Seizures
* Coordination and balance impairment
* Oculogyric crises: abnormal rotation of the eyes
The oculogyric crises usually occur in the later half of the day and during these episodes patients undergo extreme agitation and irritability along with uncontrolled head and neck movements. Apart from the aforementioned symptoms, patients can also display Parkinsonism, sleep disturbances, small head size (microcephaly), behavioral abnormalities, weakness, drooling, and gastrointestinal symptoms.[4]
## Causes[edit]
This disorder occurs through a mutation in the SPR gene, which is responsible for encoding the signals that create sepiapterin reductase enzyme. The enzyme is involved in the last step of producing tetrahydrobiopterin better known as BH4. BH4 is involved in the processing of amino acids and the production of neurotransmitters, specifically that of dopamine and serotonin which are primarily used in transmission of signals between nerve cells in the brain. The mutation in the SPR gene interferes with the production of the enzyme by producing enzymes with little or no function at all. This interference results in a lack of BH4 specifically in the brain. The lack of BH4 only occurs in the brain because other parts of the body adapt and utilize alternate pathways for the production of BH4. The mutation in the SPR gene leads to nonfunctional sepiapterin reductase enzymes, which results in a lack of BH4 and ultimately disrupts the production of dopamine and serotonin in the brain.[6] The disruption of dopamine and serotonin production leads to the visible symptoms present in patients suffering from sepiapterin reductase deficiency. SR deficiency is considered an inherited autosomal recessive condition disorder because each parent carries one copy of the mutated gene, but typically do not show any signs or symptoms of the condition.[7]
## Diagnosis[edit]
### CSF neurotransmitter screening[edit]
The diagnosis of SR deficiency is based on the analysis of the pterins and biogenic amines found in the cerebrospinal fluid (CSF) of the brain. The pterin compound functions as a cofactor in enzyme catalysis and biogenic amines which include adrenaline, dopamine, and serotonin have functions that vary from the control of homeostasis to the management of cognitive tasks.[8] This analysis reveals decreased concentrations of homovanillic acid (HVA), 5-hydroxyindolacetic acid (HIAA), and elevated levels of 7,8-dihydrobiopterin, a compound produced in the synthesis of neurotransmitters. Sepiapterin is not detected by the regularly used methods applied in the investigation of biogenic monoamines metabolites in the cerebrospinal fluid. It must be determined by specialized methods that work by indicating a marked and abnormal increase of sepiapterin in cerebrospinal fluid. Confirmation of the diagnosis occurs by demonstrating high levels of CSF sepiapterin and a marked decrease of SR activity of the fibroblasts along with SPR gene molecular analysis.[2][9]
## Treatment[edit]
### Levodopa and Carbidopa[edit]
SR deficiency is currently being treated using a combination therapy of levodopa and carbidopa. These treatments are also used for individuals suffering from Parkinson's. The treatment is noninvasive and only requires the patient to take oral tablets 3 or 4 times a day, where the dosage of levodopa and carbidopa is determined by the severity of the symptoms. Levodopa is in a class of medications called central nervous system agents where its main function is to become dopamine in the brain. Carbidopa is in a class of medications called decarboxylase inhibitors and it works by preventing levodopa from being broken down before it reaches the brain. This treatment is effective in mitigating motor symptoms, but it does not totally eradicate them and it is not as effective on cognitive problems. Patients who have been diagnosed with SR deficiency and have undergone this treatment have shown improvements with most motor impairments including oculogyric crises, dystonia, balance, and coordination.[9][10]
## Case Studies[edit]
### Autosomal Recessive DOPA-responsive Dystonia[edit]
The diagnosis of sepiapterin reductase deficiency in a patient at the age of 14 years was delayed by an earlier diagnosis of an initially unclassified form of methylmalonic aciduria at the age of 2. At that time the hypotonia and delayed development were not considered to be suggestive of a neurotransmitter defect. The clinically relevant diagnosis was only made following the onset of dystonia with diurnal variation, when the patient was a teenager. Variability in occurrence and severity of other symptoms of the condition, such as hypotonia, ataxia, tremors, spasticity, bulbar involvement, oculogyric crises, and cognitive impairment, is comparable with autosomal dominant GTPCH and tyrosine hydroxylase deficiency, which are both classified as forms of DOPA-responsive dystonia.[11]
### Homozygous Mutation causing Parkinsonism[edit]
Hypotonia and Parkinsonism were present in two Turkish siblings, brother and sister. By using exome sequencing, which sequences a selective coding region of the genome, researchers have found a homozygous five-nucleotide deletion in the SPR gene which confirmed both siblings were homozygous. It is predicted that this mutation leads to premature translational termination. Translation is the biological process through which proteins are manufactured. The homozygous mutation of the SPR gene in these two siblings exhibiting early-onset Parkinsonism showcases that SPR gene mutations can vary in combinations of clinical symptoms and movement. These differences result in a wider spectrum for the disease phenotype and increases the genetic heterogeneity causing difficulties in diagnosing the disease.[3]
### Quantification of Sepiapterin in CSF[edit]
This study examined the clinical history of the CSF and urine of two Greek siblings who were both diagnosed with SR deficiency. Both siblings displayed delayed psychomotor development and a movement disorder. The diagnosis was confirmed by measuring the SR enzyme activity and mutation analysis. The mutation analysis of the gene was performed using genomic DNA isolated from blood samples. The results concluded that both patients have low concentrations of HVA and HIAA and high concentrations of sepiapterin in the CSF, but neopterin and biopterin were abnormal in only one sibling. The results of this research indicates that when diagnosing the SR deficiency, the quantification of sepiapterin in the CSF is more important and indicative of SR deficiency than using neopterin and biopterin alone. The results also show that the urine concentrations of neurotransmitter metabolites are abnormal in patients with this disorder. This finding may provide an initial and easier indication of the deficiency before CSF analysis is performed.[12]
## See also[edit]
* Succinic semialdehyde dehydrogenase deficiency
* Neurotransmitter
* Parkinson's disease
* Cerebral palsy
* Enzyme
* Biochemistry
## References[edit]
1. ^ Reference, Genetics Home. "Sepiapterin reductase deficiency". Genetics Home Reference.
2. ^ a b Arrabal, L., Teresa, L., Sanchez-Alcudia, R., Castro, M., Medrano, C., Gutierrez-Solana, L., . . . Desviat, L. R. (2011). Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics, 12(3), 183-191. doi: 10.1007/s10048-011-0279-4.
3. ^ a b Lohmann, E., Koroglu, C., Hanagasi, H. A., Dursun, B., Tasan, E., & Tolun, A. (2012). A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. Parkinsonism & Related Disorders, 18(2), 191-193. doi:10.1016/j.parkreldis.2011.10.001
4. ^ a b Friedman, J., Roze, E., Abdenur, J. E., Chang, R., Gasperini, S., Saletti, V., . . . Blau, N. (2012). Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy. Annals of Neurology, 71(4), 520-530. doi: 10.1002/ana.22685.
5. ^ Dill, P., Wagner, M., Somerville, A., Thony, B., Blau, N., & Weber, P. (2012). Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia Hallmarks of sepiapterin reductase deficiency. Neurology, 78(5), E29-E32. doi: 10.1212/WNL.0b013e3182452849.
6. ^ Clot, F., Grabli, D., Cazeneuve, C., Roze, E., Castelnau, P., Chabrol, B., . . . French Dystonia, N. (2009). Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132, 1753-1763.
7. ^ Pearl, P. L., Taylor, J. L., Trzcinski, S., & Sokohl, A. (2007). The pediatric neurotransmitter disorders. Journal of Child Neurology, 22(5), 606-616. doi: 10.1177/0883073807302619.
8. ^ Purves D, Augustine GJ, Fitzpatrick D, et al., editors. Neuroscience. 2nd edition. Sunderland (MA): Sinauer Associates; 2001. The Biogenic Amines. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11035/.
9. ^ a b Echenne, B., Roubertie, A., Assmann, B., Lutz, T., Penzien, J. M., Thony, B., . . . Hoffmann, G. F. (2006). Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy. Pediatric Neurology, 35(5), 308-313. doi: 10.1016/j.pediatrneurol.2006.05.006 Friedman, J., Hyland, K., Blau, N., & MacCollin, M. (2006). Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology, 67(11), 2032-2035. doi: 10.1212/01.wnl.0000247274.21261.b4.
10. ^ Neville, B. G. R., Parascandalo, R., Farrugia, R., & Felice, A. (2005). Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain, 128, 2291-2296. doi: 10.1093/brain/awh603.
11. ^ Abeling, N. G., Duran, M., Bakker, H. D., Stroomer, L., Thony, B., Blau, N., . . . Poll-The, B. T. (2006). Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Molecular Genetics and Metabolism, 89(1-2), 116-120. Arrabal, L., Teresa, L., Sanchez-Alcudia, R., Castro, M., Medrano, C., Gutierrez-Solana, L., . . . Desviat, L. R. (2011). Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics, 12(3), 183-191.
12. ^ Verbeekac, M. M., Willemsen, M., Wevers, R. A., Lagerwerf, A. J., Abeling, N., Blau, N., . . . Zafeiriou, D. I. (2008). Two Greek siblings with sepiapterin reductase deficiency. Molecular Genetics and Metabolism, 94(4), 403-409. doi: 10.1016/j.ymgme.2008.04.003.
## External links[edit]
* SR deficiency Genetics Home Reference
* SR deficiency National Institute of Health
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sepiapterin reductase deficiency | c0268468 | 28,793 | wikipedia | https://en.wikipedia.org/wiki/Sepiapterin_reductase_deficiency | 2021-01-18T18:46:08 | {"gard": ["10365"], "mesh": ["C562657"], "umls": ["C0268468"], "orphanet": ["70594"], "wikidata": ["Q17156923"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive axonal Charcot-Marie-Tooth neuropathy type 2EE (CMT2EE) is caused by homozygous mutation in the MPV17 gene (137960) on chromosome 2p23.
Biallelic mutation in the MPV17 gene can also cause mitochondrial DNA depletion syndrome-6 (MTDPS6; 256810), a much more severe disorder with brain and liver involvement that usually leads to early death.
Description
Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).
Clinical Features
Blakely et al. (2012) reported a 21-year-old Pakistani man with onset of slowly progressive distal muscle weakness and atrophy mainly affecting the lower limbs at age 14 years. At the same time, he had distal numbness and subjective coldness of the lower limbs up to the knees. Features included foot drop, difficulty walking with the need for orthotics, clawed toes, and absent reflexes. He had no significant cognitive impairment, and brain imaging showed diffuse hyperintense T2-weighed signals in the cerebral white matter. He had mild liver involvement manifest as transient hepatitis A infection as a child, mild hepatomegaly, mildly abnormal liver enzymes, and mild steatosis and fibrosis on biopsy, but no significant chronic liver disease. Nerve conduction studies confirmed an axonal sensory motor polyneuropathy, and sural nerve biopsy showed a severe chronic axonal neuropathy with only occasional surviving myelinated axons. Detailed analysis of skeletal muscle biopsy showed rare ragged-red fibers, decreased COX reactivity, focal subsarcolemmal accumulation of abnormal mitochondria, and mtDNA deletions, all of which suggested a disorder of mtDNA maintenance. Laboratory studies showed increased CSF lactate and protein levels. The patient's sister developed a progressive, fatal hepatitis at age 9 years, and his father had an episode of hepatitis as a child, but recovered. Additional family details were not available.
Choi et al. (2015) reported 2 unrelated Korean patients with onset of a progressive sensorimotor peripheral neuropathy at 9 and 13 years of age. Both had normal early motor development and presented with distal muscle weakness and atrophy of the lower limbs resulting in difficulty walking and the need for leg braces. The distal upper limbs were similarly, but less severely, affected. Physical examination showed atrophy of the intrinsic hand, foot, and calf muscles, as well as flexion deformities of the interphalangeal joints, ankle contractures, and scoliosis. Other features included decreased vibration and position sense and hyporeflexia of the lower limbs. Nerve conduction velocities were consistent with an axonal sensorimotor neuropathy. Sural nerve biopsy in 1 patient showed loss of large and medium myelinated fibers without evidence of demyelination or onion bulb formation. Muscle biopsy from the other patient showed a few ragged red fibers and myofibers with focal subsarcolemmal accumulation of abnormal mitochondria. MRI of the lower limbs in both patients showed fatty replacement of the soleus muscles, consistent with length-dependent axonal degeneration. Both had mildly increased serum lactate. Neither patient had cerebellar or pyramidal signs, cognitive impairment, or liver dysfunction at ages 34 and 22 years.
Baumann et al. (2019) reported 5 patients from 2 unrelated families with CMT2EE. Family 1 was of Bosnian origin and family 2 from Iraq. The patients presented between 8 and 23 years with distal muscle weakness and instability of the lower limbs. The disorder was progressive, and patients had severe distal muscle atrophy, ankle joint instability, and sometimes foot deformities, such as pes cavus or claw toes. The upper limbs became affected later, resulting in atrophy of the intrinsic hand muscles, decreased muscle strength in the hands, and sometimes claw hand deformities. All patients had significant walking difficulties by age 20; 2 became wheelchair-bound at ages 39 and 27, whereas the other patients used orthotics or a cane. The patients also had distal sensory impairment, particularly in the lower limbs, although none developed acral ulcerations. One patient showed restrictive lung dysfunction at age 43. None of the patients had liver involvement or evidence of liver dysfunction on laboratory studies. Nerve conduction studies showed progressive and variably decreased or absent sensory nerve action potentials (SNAP) and compound motor action potentials (CMAP) of the lower and upper limbs. Motor nerve conduction velocities were normal, consistent with an axonal neuropathy.
Inheritance
The transmission pattern of CMT2EE in the families reported by Choi et al. (2015) and Baumann et al. (2019) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a 21-year-old Pakistani man with CMT2EE, Blakely et al. (2012) identified a homozygous missense mutation in the MPV17 gene (P98L; 137960.0008). The mutation was found by direct sequencing of MPV17 and 2 other genes implicated in mitochondrial DNA maintenance disorders with hepatocerebral involvement; DNA from family members was not available for analysis. Functional studies of the variant were not performed.
In 2 unrelated Korean patients with CMT2EE, Choi et al. (2015) identified a homozygous missense mutation in the MPV17 gene (R41Q; 137960.0009). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in both families. Transfection of the R41Q mutation into murine motor neurons inhibited cell proliferation, caused reduced of several OXPHOS proteins, and induced mtDNA depletion compared to controls.
Baumann et al. (2019) identified a homozygous R41Q mutation in the MPV17 gene in 2 Bosnian patients with CMT2EE. The mutation was found by Sanger sequencing and segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. Three Iraqi brothers from the religious minority of 'Jesidians' (Yazidis) in northern Iraq with the disorder were found to have a homozygous splice site mutation in the MPV17 gene (137960.0010). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The findings expanded the phenotype associated with biallelic MPV17 mutations.
INHERITANCE \- Autosomal recessive RESPIRATORY Lung \- Restrictive lung disease, late-onset (1 patient) ABDOMEN Liver \- Steatosis (patient A) \- Bridging fibrosis (patient A) SKELETAL Hands \- Clawed hands Feet \- Foot drop \- Pes cavus \- Hammertoes \- Clawed toes MUSCLE, SOFT TISSUES \- Distal muscle weakness and atrophy \- Lower limbs more affected than upper limbs \- Muscle biopsy shows mitochondrial respiratory chain deficiency \- Ragged red fibers \- Subsarcolemmal accumulation of abnormal mitochondria \- Mitochondrial DNA deletions (in some patients) NEUROLOGIC Central Nervous System \- Impaired gait \- Nonspecific white matter abnormalities on brain imaging (in some patients) Peripheral Nervous System \- Axonal sensorimotor peripheral neuropathy \- Distal sensory impairment \- Hyporeflexia \- Areflexia \- Sural nerve biopsy shows loss of myelinated fibers \- Decreased sensory action potentials (SNAP) \- Decreased compound motor action potentials (CMAP) \- Normal median nerve motor conduction velocity LABORATORY ABNORMALITIES \- Increased CSF lactate (in some patients) \- Mildly increased serum creatine kinase (in some patients) \- Abnormal liver enzymes (patient A) MISCELLANEOUS \- Juvenile onset (first or second decade) \- Progressive disorder \- Some patients may become wheelchair-bound \- One patient (patient A) had mild liver involvement MOLECULAR BASIS \- Caused by mutation in the mitochondrial inner membrane protein MPV17 gene (MPV17, 137960.0008 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE | None | 28,794 | omim | https://www.omim.org/entry/618400 | 2019-09-22T15:42:08 | {"omim": ["618400"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE"]} |
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Plica syndrome
Other namesSynovial plica syndrome
SpecialtyOrthopedics
Plica syndrome is a condition that occurs when a plica (a vestigial extension of the protective synovial capsule of usually the knee) becomes irritated, enlarged, or inflamed.[1]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Cause[edit]
This inflammation is typically caused by the plica being caught on the femur, or pinched between the femur and the patella. The most common location of plica tissue is along the medial (inside) side of the knee. The plica can tether the patella to the femur, be located between the femur and patella, or be located along the femoral condyle. If the plica tethers the patella to the femoral condyle, the symptoms may cause it to be mistaken for chondromalacia.
The plica themselves are remnants of the fetal stage of development where the knee is divided into three compartments. The plica normally diminish in size during the second trimester of fetal development, as the three compartments develop into the synovial capsule. In adults, they normally exist as sleeves of tissue called synovial folds. The plica are usually harmless and unobtrusive; plica syndrome only occurs when the synovial capsule becomes irritated, which thickens the plica themselves (making them prone to irritation/inflammation, or being caught on the femur).
## Diagnosis[edit]
If the plica tethers the patella to the femoral condyle, the symptoms may cause it to be mistaken for chondromalacia patellae. Diagnosis is often complicated by the thin structures of plicae, fenestrated septum or unfenestrated septum all being too fine to resolve well even in MRI.
## Treatment[edit]
Plica syndrome treatment focuses on decreasing inflammation of the synovial capsule. A nonsteroidal anti-inflammatory drug (NSAID) is often used in conjunction with therapeutic exercise and modalities. Iontophoresis and phonophoresis have been utilized successfully against inflammation of the plica and synovial capsule. Failing these, surgical removal of the plica of the affected knee may be necessary.
## See also[edit]
* Knee pain
* Patellofemoral pain syndrome
* Iliotibial band syndrome
## References[edit]
1. ^ Casadei, Kyle; Kiel, John (2020). "Plica Syndrome". StatPearls. StatPearls Publishing. PMID 30570983. Retrieved 9 January 2021.
## External links[edit]
Classification
D
* ICD-9-CM: 727.83
External resources
* eMedicine: article/1252011
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Plica syndrome | c0878705 | 28,795 | wikipedia | https://en.wikipedia.org/wiki/Plica_syndrome | 2021-01-18T18:46:29 | {"umls": ["C0878705"], "wikidata": ["Q7204944"]} |
Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body's ability to process (metabolize) fats. The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes. In the gastrointestinal system, it interferes with the body's ability to absorb certain nutrients. This leads to a condition known as malabsorption. Whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and problems with the immune system. It is caused by infection from bacteria called Tropheryma whipplei. When recognized and treated, Whipple disease can usually be cured. Untreated, the disease may be fatal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Whipple disease | c0023788 | 28,796 | gard | https://rarediseases.info.nih.gov/diseases/7889/whipple-disease | 2021-01-18T17:57:06 | {"mesh": ["D008061"], "orphanet": ["3452"], "synonyms": ["Intestinal lipodystrophy", "Intestinal lipophagic granulomatosis", "Secondary Non-tropical Sprue", "Tropheryma whippelii infection"]} |
Erdheim–Chester disease
Other namesErdheim–Chester syndrome or Polyostotic sclerosing histiocytosis
Chester-Erdheim disease
SpecialtyOncology
Erdheim–Chester disease (ECD) is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). It was declared a histiocytic neoplasm by the World Health Organization in 2016.[1] Onset typically is in middle age. The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones.[2]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Histology
* 3 Treatment
* 4 Prognosis
* 5 Epidemiology
* 6 History
* 7 Society and culture
* 7.1 Support groups
* 7.2 Media
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
Long bone involvement is almost universal in ECD patients and is bilateral and symmetrical in nature. More than 50% of cases have some sort of extraskeletal involvement. This can include kidney, skin, brain and lung involvement, and less frequently retroorbital tissue, pituitary gland and heart involvement is observed.[3]
Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. The pain is often described as mild but permanent, and juxtaarticular in nature. Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless, and in most cases it occurs several years before the final diagnosis. Recurrent pericardial effusion can be a manifestation,[4] as can morphological changes in adrenal size and infiltration.[5]
A review of 59 case studies by Veyssier-Belot et al. in 1996 reported the following symptoms in order of frequency of occurrence:[6]
* Bone pain
* Retroperitoneal fibrosis
* Diabetes insipidus
* Exophthalmos
* Xanthomas
* Neurological signs (including ataxia)
* Dyspnea caused by interlobular septal and pleural thickening.
* Kidney failure
* Hypopituitarism
* Liver failure
## Diagnosis[edit]
Radiologic osteosclerosis and histology are the main diagnostic features. Diagnosis can often be difficult because of the rareness of ECD as well as the need to differentiate it from LCH. A diagnosis from neurological imaging may not be definitive. The presence of symmetrical cerebellar and pontine signal changes on T2-weighted images seem to be typical of ECD, however, multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis.[7] ECD is not a common cause of exophthalmos but can be diagnosed by biopsy. However, like all biopsies, this may be inconclusive.[8] Video-assisted thoracoscopic surgery may be used for diagnostic confirmation and also for therapeutic relief of recurrent pericardial fluid drainage.[9]
### Histology[edit]
Histologically, ECD differs from Langerhans cell histiocytosis (LCH) in a number of ways. Unlike LCH, ECD does not stain positive for S-100 proteins or Group 1 CD1a glycoproteins, and electron microscopy of cell cytoplasm does not disclose Birbeck granules.[6] Tissue samples show xanthomatous or xanthogranulomatous infiltration by lipid-laden or foamy histiocytes, and are usually surrounded by fibrosis. Bone biopsy is said to offer the greatest likelihood of reaching a diagnosis. In some, there is histiocyte proliferation, and on staining, the section is CD68\+ and CD1a-.[citation needed]
## Treatment[edit]
Current treatment options include:
* Surgical debulking
* High-dose corticosteroid therapy
* Ciclosporin
* Interferon-α[8]
* Chemotherapy
* Vemurafenib. It would appear that approximately half these patients harbor point mutations of the BRAF gene at codon 600 substituting the amino acid glutamine for valine. Vemurafenib, an oral FDA approved targeted agent to the BRAF protein for melanoma, shows dramatic activity in patients Erdheim–Chester disease whose tumor contains the same mutation.[10] In 2017 the US FDA approved vemurafenib for this indication.[11]
* Radiation therapy
All current treatments have had varying degrees of success.
The vinca alkaloids and anthracyclines have been used most commonly in ECD treatment.[12]
## Prognosis[edit]
Erdheim–Chester disease is associated with high mortality rates.[9][13] In 2005, the survival rate was below 50% at three years from diagnosis.[14] More recent reports of patients treated with Interferon therapy describe an overall 5-year survival of 68%.[15] Long term survival is currently even more promising, although this impression is not reflected in the recent literature.[16]
## Epidemiology[edit]
Approximately 500 cases have been reported in the literature to date.[17] ECD affects predominantly adults, with a mean age of 53 years.[6]
## History[edit]
The first case of ECD was reported by the American pathologist William Chester in 1930, during his visit to the Austrian pathologist Jakob Erdheim in Vienna.[18]
## Society and culture[edit]
### Support groups[edit]
The Erdheim–Chester Disease Global Alliance is a support and advocacy group with the goal of raising awareness of and promoting research into ECD.[19][20] ECD families and patients are also supported by the Histiocytosis Association, Inc.[20][21]
### Media[edit]
In the TV show House, season 2 episode 17, "All In", the final diagnosis of a 6-year-old boy who presents with bloody diarrhea and ataxia is Erdheim–Chester disease.
## References[edit]
1. ^ "Erdheim-Chester Disease Declared a Histiocytic Neoplasm" (PDF). Retrieved 2018-07-18.
2. ^ "Erdheim–Chester disease at the United States National Library of Medicine". Retrieved 2008-06-19.
3. ^ "Erdheim-Chester Disease - Histiocytosis Association". www.histio.org. Retrieved 2017-12-21.
4. ^ Lutz, S; Schmalzing, M; Vogel-Claussen, J; Adam, P; May, A (2011). "Rezidivierender Perikarderguss als Erstmanifestation eines Morbus Erdheim-Chester" [Recurrent pericardial effusion as first manifestation of Erdheim-Chester disease]. Deutsche Medizinische Wochenschrift (in German). 136 (39): 1952–6. doi:10.1055/s-0031-1286368. PMID 21935854.
5. ^ Haroche, Julien; Amoura, Zahir; Touraine, Philippe; Seilhean, Danielle; Graef, Claire; Birmelé, Béatrice; Wechsler, Bertrand; Cluzel, Philippe; et al. (2007). "Bilateral Adrenal Infiltration in Erdheim-Chester Disease. Report of Seven Cases and Literature Review". Journal of Clinical Endocrinology & Metabolism. 92 (6): 2007–12. doi:10.1210/jc.2006-2018. PMID 17405844.
6. ^ a b c Veyssier-Belot, Catherine; Cacoub, Patrice; Caparros-Lefebvre, Dominique; Wechsler, Janine; Brun, Bernard; Remy, Martine; Wallaert, Benoit; Petit, Henri; et al. (1996). "Erdheim-Chester Disease". Medicine. 75 (3): 157–69. doi:10.1097/00005792-199605000-00005. PMID 8965684. S2CID 32150913.
7. ^ Weidauer, Stefan; von Stuckrad-Barre, Sebastian; Dettmann, Edgar; Zanella, Friedhelm E.; Lanfermann, Heinrich (2003). "Cerebral Erdheim-Chester disease: Case report and review of the literature". Neuroradiology. 45 (4): 241–5. doi:10.1007/s00234-003-0950-z. PMID 12687308. S2CID 9513277.
8. ^ a b "Erdheim Chester Disease". M. D. Anderson Cancer Center. Retrieved 2007-08-26.
9. ^ a b Egan, Aoife; Sorajja, Dan; Jaroszewski, Dawn; Mookadam, Farouk (2012). "Erdheim–Chester disease: The role of video-assisted thoracoscopic surgery in diagnosing and treating cardiac involvement". International Journal of Surgery Case Reports. 3 (3): 107–10. doi:10.1016/j.ijscr.2011.12.001. PMC 3267285. PMID 22288060.
10. ^ Haroche J, Cohen-Aubart F, Emile JF, Arnaud L, Maksud P, Charlotte F, Cluzel P, Drier A, Hervier B, Benameur N, Besnard S, Donadieu J, Amoura Z (Feb 2013). "Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation". Blood. 121 (9): 1495–500. doi:10.1182/blood-2012-07-446286. PMID 23258922.
11. ^ FDA Approves First Treatment for Erdheim-Chester Disease. Nov 2017
12. ^ Gupta, Anu; Kelly, Benjamin; McGuigan, James E. (2002). "Erdheim-Chester Disease with Prominent Pericardial Involvement". The American Journal of the Medical Sciences. 324 (2): 96–100. doi:10.1097/00000441-200208000-00008. PMID 12186113. S2CID 24258121.
13. ^ Myra, C; Sloper, L; Tighe, PJ; McIntosh, RS; Stevens, SE; Gregson, RH; Sokal, M; Haynes, AP; Powell, RJ (2004). "Treatment of Erdheim-Chester disease with cladribine: A rational approach". British Journal of Ophthalmology. 88 (6): 844–7. doi:10.1136/bjo.2003.035584. PMC 1772168. PMID 15148234.
14. ^ Braiteh, F.; Boxrud, C; Esmaeli, B; Kurzrock, R (2005). "Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-". Blood. 106 (9): 2992–4. doi:10.1182/blood-2005-06-2238. PMID 16020507.
15. ^ Arnaud, L.; Hervier, B; et al. (2011). "CNS involvement and treatment with interferon are independent prognostic factors in Erdheim-Chester Disease; a multicenter survival analysis of 53 patients". Blood. 117 (10): 2778–2782. doi:10.1182/blood-2010-06-294108. PMID 21239701.
16. ^ Diamond, E; Dagna, L; et al. (2014). "Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease". Blood. 124 (4): 483–492. doi:10.1182/blood-2014-03-561381. PMC 4110656. PMID 24850756.
17. ^ Haroche J1 Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, Amoura Z (2014). "Erdheim-Chester disease". Curr Rheumatol Rep. 16 (4): 412. doi:10.1007/s11926-014-0412-0. PMID 24532298.CS1 maint: multiple names: authors list (link)
18. ^ Chester, William (1930). "Über Lipoidgranulomatose". Virchows Archiv für Pathologische Anatomie und Physiologie und für Klinische Medizin. 279 (2): 561–602. doi:10.1007/BF01942684. S2CID 27359311.
19. ^ "Erdheim–Chester Disease". ECD Global Alliance. Retrieved 2009-05-08.
20. ^ a b "Erdheim Chester disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.
21. ^ "What Do I Do Now? - Erdheim-Chester Disease - Histiocytosis Association". www.histio.org. Retrieved 2016-03-01.
## Further reading[edit]
* Aouba, Achille; Georgin-Lavialle, Sophie; Pagnoux, Christian; Silva, Nicolas Martin; Renand, Amédée; Galateau-Salle, Françoise; Le Toquin, Sophie; Bensadoun, Henri; et al. (2010). "Rationale and efficacy of interleukin-1 targeting in Erdheim–Chester disease". Blood. 116 (20): 4070–6. doi:10.1182/blood-2010-04-279240. PMID 20724540.
* Arnaud, Laurent; Malek, Zoulikha; Archambaud, Frédérique; Kas, Aurélie; Toledano, Dan; Drier, Aurélie; Zeitoun, Delphine; Cluzel, Philippe; et al. (2009). "18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease". Arthritis & Rheumatism. 60 (10): 3128–38. doi:10.1002/art.24848. PMID 19790052.
* Arnaud, Laurent; Pierre, Isabelle; Beigelman-Aubry, Catherine; Capron, Frédérique; Brun, Anne-Laure; Rigolet, Aude; Girerd, Xavier; Weber, Nina; et al. (2010). "Pulmonary involvement in Erdheim-Chester disease: A single-center study of thirty-four patients and a review of the literature". Arthritis & Rheumatism. 62 (11): 3504–12. doi:10.1002/art.27672. PMID 20662053.
* Boissel, Nicolas; Wechsler, Bertrand; Leblond, Véronique (2001). "Treatment of Refractory Erdheim–Chester Disease with Double Autologous Hematopoietic Stem-Cell Transplantation". Annals of Internal Medicine. 135 (9): 844–5. doi:10.7326/0003-4819-135-9-200111060-00027. PMID 11694122.
* Braiteh, Fadi; Boxrud, Cynthia; Esmaeli, Bita; Kurzrock, Razelle (2005). "Successful treatment of Erdheim-Chester disease, a non–Langerhans-cell histiocytosis, with interferon-α". Blood. 106 (9): 2992–4. doi:10.1182/blood-2005-06-2238. PMID 16020507.
* Brun, Anne-Laure; Touitou-Gottenberg, Diane; Haroche, Julien; Toledano, Dan; Cluzel, Philippe; Beigelman-Aubry, Catherine; Piette, Jean-Charles; Amoura, Zahir; Grenier, Philippe A. (2010). "Erdheim-Chester disease: CT findings of thoracic involvement". European Radiology. 20 (11): 2579–87. doi:10.1007/s00330-010-1830-7. PMID 20563815. S2CID 5775587.
* De Abreu, Marcelo Rodrigues; Castro, Miguel Oliveira; Chung, Christine; Trudell, Debra; Biswal, Sandip; Wesselly, Michelle; Resnick, Donald (2009). "Erdheim–Chester disease: Case report with unique postmortem magnetic resonance imaging, high-resolution radiography, and pathologic correlation". Clinical Imaging. 33 (2): 150–3. doi:10.1016/j.clinimag.2008.09.009. PMID 19237062.
* Drier, A.; Haroche, J.; Savatovsky, J.; Godeneche, G.; Dormont, D.; Chiras, J.; Amoura, Z.; Bonneville, F. (2010). "Cerebral, Facial, and Orbital Involvement in Erdheim-Chester Disease: CT and MR Imaging Findings". Radiology. 255 (2): 586–94. doi:10.1148/radiol.10090320. PMID 20413768.
* Haroche, J; Amoura, Z; Dion, E; Wechsler, B; Costedoat-Chalumeau, N; Cacoub, P; Isnard, R; Généreau, T; et al. (2004). "Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: Report of 6 new cases and a literature review". Medicine. 83 (6): 371–92. doi:10.1097/01.md.0000145368.17934.91. PMID 15525849. S2CID 1426013.
* Haroche, J.; Cluzel, P.; Toledano, D.; Montalescot, G.; Touitou, D.; Grenier, P. A.; Piette, J.-C.; Amoura, Z. (2009). "Cardiac Involvement in Erdheim-Chester Disease: Magnetic Resonance and Computed Tomographic Scan Imaging in a Monocentric Series of 37 Patients". Circulation. 119 (25): e597–8. doi:10.1161/CIRCULATIONAHA.108.825075. PMID 19564564.
* Haroche, Julien; Amoura, Zahir; Trad, Salim G.; Wechsler, Bertrand; Cluzel, Philippe; Grenier, Philippe A.; Piette, Jean-Charles (2006). "Variability in the efficacy of interferon-α in Erdheim-Chester disease by patient and site of involvement: Results in eight patients". Arthritis & Rheumatism. 54 (10): 3330–6. doi:10.1002/art.22165. PMID 17009306.
* Haroche, Julien; Amoura, Zahir; Charlotte, Frédéric; Salvatierra, Juan; Wechsler, Bertrand; Graux, Carlos; Brousse, Nicole; Piette, Jean-Charles (2008). "Imatinib mesylate for platelet-derived growth factor receptor-beta–positive Erdheim-Chester histiocytosis". Blood. 111 (11): 5413–5. doi:10.1182/blood-2008-03-148304. PMID 18502845.
* Janku, F.; Amin, H. M.; Yang, D.; Garrido-Laguna, I.; Trent, J. C.; Kurzrock, R. (2010). "Response of Histiocytoses to Imatinib Mesylate: Fire to Ashes". Journal of Clinical Oncology. 28 (31): e633–6. doi:10.1200/JCO.2010.29.9073. PMID 20733125.
* Lachenal, Florence; Cotton, François; Desmurs-Clavel, Hélène; Haroche, Julien; Taillia, Hervé; Magy, Nadine; Hamidou, Mohamed; Salvatierra, Juan; et al. (2006). "Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: Report of 6 cases and systematic review of the literature". Journal of Neurology. 253 (10): 1267–77. doi:10.1007/s00415-006-0160-9. PMID 17063320. S2CID 27976718.
* Mossetti, G; Rendina, D; Numis, FG; Somma, P; Postiglione, L; Nunziata, V (2003). "Biochemical markers of bone turnover, serum levels of interleukin-6/interleukin-6 soluble receptor and bisphosphonate treatment in Erdheim-Chester disease". Clinical and Experimental Rheumatology. 21 (2): 232–6. PMID 12747282.
* Perlat, Antoinette; Decaux, Olivier; Sébillot, Martine; Grosbois, Bernard; Desfourneaux, Véronique; Meadeb, Jean (2009). "Erdheim-Chester disease with predominant mesenteric localization: Lack of efficacy of interferon alpha". Joint Bone Spine. 76 (3): 315–7. doi:10.1016/j.jbspin.2008.09.013. PMID 19119043.
## External links[edit]
* 01067 at CHORUS
Classification
D
* ICD-10: C96.1
* ICD-9-CM: 202.3
* MeSH: D031249
* DiseasesDB: 29792
* v
* t
* e
Histiocytosis
WHO-I/Langerhans cell histiocytosis/
X-type histiocytosis
* Letterer–Siwe disease
* Hand–Schüller–Christian disease
* Eosinophilic granuloma
* Congenital self-healing reticulohistiocytosis
WHO-II/non-Langerhans cell histiocytosis/
Non-X histiocytosis
* Juvenile xanthogranuloma
* Hemophagocytic lymphohistiocytosis
* Erdheim-Chester disease
* Niemann–Pick disease
* Sea-blue histiocyte
* Benign cephalic histiocytosis
* Generalized eruptive histiocytoma
* Xanthoma disseminatum
* Progressive nodular histiocytosis
* Papular xanthoma
* Hereditary progressive mucinous histiocytosis
* Reticulohistiocytosis (Multicentric reticulohistiocytosis, Reticulohistiocytoma)
* Indeterminate cell histiocytosis
WHO-III/malignant histiocytosis
* Histiocytic sarcoma
* Langerhans cell sarcoma
* Interdigitating dendritic cell sarcoma
* Follicular dendritic cell sarcoma
Ungrouped
* Rosai–Dorfman disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Erdheim–Chester disease | c0878675 | 28,797 | wikipedia | https://en.wikipedia.org/wiki/Erdheim%E2%80%93Chester_disease | 2021-01-18T18:41:07 | {"gard": ["6369"], "mesh": ["D031249"], "umls": ["C0878675"], "icd-9": ["202.3"], "icd-10": ["C96.1"], "orphanet": ["35687"], "wikidata": ["Q1349259"]} |
## Summary
### Clinical characteristics.
CLCN2-related leukoencephalopathy (CC2L) is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally mild spasticity), learning disabilities in some (ranging from mild to severe cognitive impairment), and headaches in some (usually intermittent, severe, and diffuse). Affected individuals remain ambulatory and do not require support for walking, and none has become blind. To date CC2L has been reported or identified in 16 individuals from 15 families. It is not yet known if the findings occurring in single individuals (i.e., vertigo, tinnitus, and progressive hearing loss; psychiatric symptoms; and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.
### Diagnosis/testing.
The diagnosis of CC2L is established in a proband by identification of biallelic pathogenic variants in CLCN2 on molecular genetic testing.
### Management.
Treatment of manifestations: Supportive care including physical therapy and rehabilitation to improve motor function, special education as needed, treatment of headache, guidance for visual impairment.
Surveillance: Annual: neurologic examination, ophthalmologic examination, and audiologic assessment
Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in older and younger sibs of a proband to identify those who would benefit from early diagnosis and routine surveillance for motor, cognitive, vision, and hearing impairment.
### Genetic counseling.
CC2L is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible when the CLCN2 pathogenic variants in the family are known.
## Diagnosis
### Suggestive Findings
CLCN2-related leukoencephalopathy (CC2L) should be suspected in individuals with certain nonspecific neurologic findings, decreased visual acuity, and characteristic abnormalities on brain MRI [Depienne et al 2013, Di Bella et al 2014, Hanagasi et al 2015].
#### Neurologic
* Mild ataxia
* Learning disabilities
* Headache
#### Visual
Decreased vision caused by chorioretinopathy or optic atrophy
#### Brain MRI
Major criteria. Abnormally low signal on T1-weighted images and abnormally high signal on T2-weighted images (Figure 1) in the:
#### Figure 1.
MRI of an individual age 50 years with CC2L. Note the T2-weighted signal abnormalities (a-d) in the middle cerebellar peduncles (blue arrow in a), cerebral peduncles (green arrow in b), and posterior limb of the internal capsule (red arrow in d). All (more...)
* Posterior limbs of the internal capsules
* Midbrain cerebral peduncles
* Middle cerebellar peduncles
Supportive criteria
* Abnormally low signal on T1-weighted images and abnormally high signal on T2-weighted images in the:
* Pyramidal tracts in the pons
* Central tegmental tracts in medulla, pons and midbrain
* Superior cerebellar peduncles
* Decussation of the superior cerebellar peduncles in the midbrain
* Cerebellar white matter
* Corpus callosum
* Cerebral white matter, either with a signal behavior suggestive of hypomyelination* or nonspecific, mild inhomogeneous signal abnormalities.
* Mild T2-weighted hyperintensity of the white matter and mild T1-weighted hypointensity, isointensity, or hyperintensity relative to gray matter [Schiffmann & van der Knaap 2009]
* Diffusion restriction (assessed by apparent diffusion coefficient values [Depienne et al 2013]) in part or all of the structures mentioned under major and supportive criteria
Note: More recently an affected individual had no diffusion restriction [Di Bella et al 2014].
#### Other
Male infertility caused by oligospermia/azoospermia
### Establishing the Diagnosis
The diagnosis of CC2L is established in a proband by identification of biallelic pathogenic variants in CLCN2 (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 CLCN2 is performed first followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
* A multigene panel that includes CLCN2 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 serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of chloride channel-2 related leukoencephalopathy.
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 Chloride Channel-2 Related Leukoencephalopathy
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
CLCN2Sequence analysis 3All CLCN2 pathogenic variants reported to date
Gene-targeted deletion/duplication analysis 4Unknown 5
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\.
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.
5\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
Since its discovery in 2013, CLCN2-related leukoencephalopathy (CC2L) has been reported in eight individuals [Depienne et al 2013, Di Bella et al 2014, Hanagasi et al 2015] and diagnosed in eight additional individuals from seven families [Author, personal observation]. Consequently, the phenotypic spectrum may only be partially known and statements about relative frequency of features are of limited value.
The phenotypic spectrum of CC2L ranges from childhood onset with mild ataxia, learning disabilities, and headaches to adult onset with mild ataxia and decreased vision. Infertility has been observed in two adult males [Di Bella et al 2014; Author, personal observation]. To date, single individuals with vertigo, tinnitus, and progressive hearing loss [Depienne et al 2013]; psychiatric symptoms [Depienne et al 2013]; and paroxysmal kinesigenic dyskinesia [Hanagasi et al 2015] have been reported. Thus, it is not yet clear if these findings are part of the phenotype or unrelated findings.
The disease course has been reported as stable to slowly progressive; considering that adults were previously normal, extremely slow progression is most likely. All individuals reported to date have remained ambulatory. The oldest known individual with CC2L is age 65 years. No disease-related deaths have been reported to date.
Motor skills. Initial motor development is normal. At presentation, most affected individuals display signs of mild cerebellar ataxia with action tremor and gait instability; some also show mild signs of spasticity.
Affected individuals remain ambulatory and do not require support for walking.
Cognitive skills. Some have mild learning problems from early on, but most have normal intellect. One affected individual had severe cognitive impairment and psychosis.
Headache. Some affected individuals complain of intermittent severe diffuse headaches [Author, personal observation].
Eyes. Some affected individuals have a retinopathy or optic atrophy leading to mild visual impairment. Some affected individuals have visual field defects at formal testing, indicating subclinical retinopathy. None has become blind.
Male infertility. One male with azoospermia (but no neurologic dysfunction) was found to have CC2L during a work-up for infertility [Di Bella et al 2014]. One male with a history of infertility was diagnosed with CC2L when he was investigated for severe headaches [Author, personal observation].
Routine laboratory tests, including CSF analysis, are normal.
### Genotype-Phenotype Correlations
Individuals with two null alleles and individuals with two missense pathogenic variants have been reported with onset in either childhood or adulthood without evidence of any genotype-phenotype correlations, although it should be noted that to date the number of affected individuals reported and known to the authors is small.
### Prevalence
The prevalence of CC2L is unknown. The small number of known affected individuals suggests that the disease is exceedingly rare. Numerous individuals with CC2L, however, may also remain undiagnosed because they remain asymptomatic at an advanced age, lack a specific clinical phenotype, or have findings (e.g., headaches or infertility due to azoospermia or oligozoospermia) that do not prompt evaluation by brain MRI.
## Differential Diagnosis
Because the clinical findings of CLCN2-related leukoencephalopathy (CC2L) are nonspecific, it is not possible to establish the diagnosis on a clinical basis alone or to develop a differential diagnosis.
In contrast, the differential diagnosis of the MRI findings of bilateral symmetric signal abnormalities of the middle cerebellar peduncles and variable signal abnormalities in the brain stem and cerebellar and cerebral white matter include the following:
* Adult autosomal dominant leukoencephalopathy related to LMNB1 duplications is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. Mean age of onset is in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. Brain MRI is characterized by cerebral white matter abnormalities with frontal preponderance.
* Fragile X-associated tremor/ataxia syndrome, which occurs in adult males (and some females) who have an FMR1 premutation, is characterized by late-adult onset progressive cerebellar ataxia and intention tremor. Brain MRI shares with CC2L the typical middle cerebellar peduncle signal abnormalities, but lacks both the signal abnormalities in the cerebral peduncles and posterior limbs of the internal capsules and the diffusion restriction typical of CC2L.
* Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years. Kayser-Fleischer rings resulting from copper deposition in Descemet’s membrane of the cornea are frequently present. Abnormalities of brain MRI are highly variable and may involve the brain stem, but with a configuration different from that of CC2L.
* Adult-onset Alexander disease mainly affects the lower brain stem, which is clinically evident as bulbar dysfunction. The hallmark brain MRI abnormality is atrophy of the medulla oblongata. Brain stem signal abnormalities with a predilection for the medulla may also be present.
* Adrenomyeloneuropathy manifests most commonly in the late twenties with progressive paraparesis, sphincter disturbances, sexual dysfunction, and often impaired adrenocortical function. All features are progressive over decades. The primary MRI finding is spinal cord atrophy. Corticopontine and corticospinal projection fibers are frequently involved.
* Cerebrotendinous xanthomatosis is characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction with dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures. The most important and earliest MRI abnormalities are signal abnormalities in the dentate nucleus and cerebellar hemispheric white matter. Additionally, signal abnormalities are often present in the corticospinal tracts and medial lemniscus in the brain stem, and slight signal changes are often seen in the periventricular cerebral white matter.
* Leukoencephalopathy with brain stem and spinal cord abnormalities and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. MRI invariably shows spinal cord signal abnormalities over its entire length. Brain stem signal abnormalities are more variable and rarely involve the middle cerebellar peduncles and cerebral peduncles.
All disorders mentioned can be differentiated by the MRI findings mentioned and the diagnosis can be confirmed by appropriate biochemical and/or genetic testing.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with CLCN2-related leukoencephalopathy (CC2L), the following evaluations are recommended:
* Neurologic examination
* Brain MRI if not performed at the time of diagnostic work up
* Physical therapy/occupational therapy assessment, if significant neurologic problems are present
* Ophthalmologic examination with attention to visual acuity and visual fields
* Audiologic examination
* For adult males: evaluation of testicular function
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Supportive therapy includes the following as needed:
* Physical therapy and rehabilitation to improve motor function
* Special education
* Treatment of headache
* Guidance for visual impairment
* For males with infertility: consultation with a male infertility specialist
### Surveillance
Annual evaluations including:
* Neurologic examination
* Ophthalmologic examination
* Audiologic assessment
MRI follow up can be performed once every few years, in the event that the neurologic manifestations change.
### Evaluation of Relatives at Risk
Using the CLCN2 pathogenic variants identified in the proband, it is appropriate to evaluate the older and younger sibs of a proband in order to identify those who would benefit from early diagnosis and routine surveillance for motor, cognitive, vision, and hearing impairment.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
No pregnancy complications have been identified in affected women to date [Author, personal observation].
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CLCN2-Related Leukoencephalopathy | c4554120 | 28,798 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK326661/ | 2021-01-18T21:37:41 | {"synonyms": []} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Iu (CDG1U) is caused by homozygous or compound heterozygous mutation in the DPM2 gene (603564) on chromosome 9q34.
For a discussion of the classification of CDGs, see CDG1A (212065).
Clinical Features
Barone et al. (2012) reported 3 patients from 2 unrelated families with a severe multisystem and neurologic phenotype resulting in early death. Two brothers, born of consanguineous Sicilian parents, had originally been reported by Messina et al. (2009). At birth, both boys showed severe hypotonia, myopathic facies, and dysmorphic features. One had micrognathia, malocclusion, and strabismus. Both had severe congenital contractures of the joints and scoliosis. Onset of severe focal, generalized, or myoclonic seizures began between 3 and 5 months of age. Both had profoundly delayed psychomotor development without visual tracking, head control, or speech. Microcephaly was also present, and brain MRI of 1 showed cerebellar hypoplasia. The boys died of respiratory infections at ages 16 and 7 months, respectively. Skeletal muscle biopsy of 1 boy showed a dystrophic pattern, and immunohistochemical studies showed a reduction of the O-mannosyl glycans on DAG1 (128239), suggestive of a dystroglycanopathy (see, e.g., 236670). Fibroblasts showed an accumulation of Dol-PP-GlcNAc2Man5, consistent with a CDG. The third child, also of Sicilian origin, showed respiratory distress and severe hypotonia at birth. She had facial dysmorphism, including trigonocephaly, hypotelorism, small nose, high-arched palate, and micrognathia. She developed seizures at age 1 week. Over the first 2 years of life, she had lack of psychomotor development, was unaware of her surroundings, and had poor visual fixation. Brain MRI showed loss of periventricular and subcortical white matter. Laboratory studies showed increased serum transaminases and creatine kinase, and decreased antithrombin activity. Serum transferrin showed abnormal N-glycosylation, consistent with CDG type I. She died at age 36 months.
Inheritance
The transmission pattern of CDG1U in the families reported by Barone et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 patients from 2 unrelated Sicilian families with CDG1U, Barone et al. (2012) identified homozygous or compound heterozygous mutations in the DPM2 gene (603564.0001 and 603564.0002). DPM activity was severely decreased in patient fibroblasts.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, postnatal Face \- Myopathic facies \- Micrognathia Eyes \- Hypotelorism \- Optic atrophy (in 1 of 3 patients) \- Strabismus Nose \- Small nose Mouth \- High-arched palate \- Thin upper lip RESPIRATORY \- Respiratory distress at birth ABDOMEN Gastrointestinal \- Poor feeding SKELETAL \- Congenital contractures Spine \- Scoliosis MUSCLE, SOFT TISSUES \- Hypotonia, severe \- Dystrophic changes seen on muscle biopsy \- Reduced O-mannosyl glycans on alpha-dystroglycan NEUROLOGIC Central Nervous System \- Lack of psychomotor development \- Seizures, refractory \- Primitive reflexes \- Absence of spontaneous movements \- Cerebellar hypoplasia \- Loss of cerebral white matter (in 1 of 3 patients) LABORATORY ABNORMALITIES \- Increased serum creatine kinase \- Increased serum transaminases (in 1 of 3 patients) \- Abnormal N-glycosylation of transferrin \- Fibroblasts accumulate Dol-PP-GlcNAc2Man5 MISCELLANEOUS \- Onset at birth \- Death in early childhood \- Three patients have been described (last curated January 2013) MOLECULAR BASIS \- Caused by mutation in the dolichyl-phosphate mannosyltransferase 2, regulatory subunit gene (DPM2, 603564.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | c3554385 | 28,799 | omim | https://www.omim.org/entry/615042 | 2019-09-22T15:53:18 | {"doid": ["0080571"], "omim": ["615042"], "orphanet": ["329178"], "synonyms": ["CDG-Iu", "Carbohydrate deficient glycoprotein syndrome type Iu", "CDG Iu", "Congenital disorder of glycosylation type 1u", "Congenital disorder of glycosylation type Iu", "CMD with intellectual disability and severe epilepsy", "Alternative titles", "CDG1U", "DPM2-CDG", "CDG syndrome type Iu"], "genereviews": ["NBK1332"]} |
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