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Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.
Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).
Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
## Frequency
The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations.
## Causes
Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes.
The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome.
In some people with Bartter syndrome, the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.
### Learn more about the genes associated with Bartter syndrome
* BSND
* CLCNKA
* CLCNKB
* KCNJ1
* SLC12A1
## 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
|
Bartter syndrome
|
c1866495
| 25,800 |
medlineplus
|
https://medlineplus.gov/genetics/condition/bartter-syndrome/
| 2021-01-27T08:24:32 |
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|
A urethral diverticulum is a condition where the urethra or the periurethral glands push into the connective tissue layers (fascia) that surround it.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 In men
* 9 References
## Signs and symptoms[edit]
Urethral diverticula are often asymptomatic[2] and symptoms that are present tend to be nonspecific.[1] They can co-occur with cancer, in approximately 6-9% of cases, most commonly adenocarcinoma, but also including squamous cell carcinoma and transitional cell carcinoma. Approximately 10% of cases co-occur with kidney stones.[3]
There are 2 types of urethral diverticulums. Congenital and acquired. In infancy usually the urethral diverticulum is congenital but in rare instances acquired urethral diverticulum can be seen in infancy specially following traumatic catheterization.[4]
Common symptoms of urethral diverticulum include incontinence, urinary frequency and urgency, pain during sex, and pain during urination. Other symptoms include pain localized to the urethra or pelvis and frequent urinary tract infection.[3]
When urethral diverticulum becomes severe, a painful mass can sometimes be felt inside the introitus of the vagina, which can discharge pus. If the mass is hard or bleeds, complications like cancer or kidney stones may be present.[3]
## Causes[edit]
Few urethral diverticula are present at birth; the vast majority are acquired. Acquired urethral diverticula can be caused by trauma and/or infection.[1] When the peri-urethral ducts become infected repeatedly, they can become blocked and eventually cause a diverticulum. They are usually found in the middle of the urethra or the end farthest from the bladder.[3]
Congenital urethral diverticula can arise from several embryological sources. These include defects in the primordial folds and remnants of Gartner's duct.[3]
## Pathology[edit]
Histopathologically, several characteristics are frequently visible in urethral diverticula. These include nephrogenic adenoma, chronic inflammation associated with fibrosis around the glands, small or absent epithelium, chronic cystitis, cystitis cystica, cystitis glandularis, squamous metaplasia, and adenomatous metaplasia.[3]
Approximately 1/3 of diverticula are compound or multiple, and some can extend to surround the urethra.[3]
## Diagnosis[edit]
A urethral diverticulum seen on urethrogram
Another view of a urethral diverticulum seen on urethrogram
Urethral diverticulum is often an incidental finding.[2] It can be diagnosed using magnetic resonance imaging and/or micturating cystourethrography.[1] Other studies that can be used to diagnose urethral diverticulum include intravenous urography, urethroscopy, and/or ultrasound. Conditions that should be distinguished from urethral diverticulum in a differential diagnosis include overactive bladder, Gartner's duct cyst, Gartner's duct abscess, ectopic caeco-ureterocele, interstitial cystitis, pelvic inflammatory disease, endometriosis, and cancer.[3]
## Treatment[edit]
The primary treatment for urethral diverticulum is surgical. In women the surgery is conducted transvaginally, usually when there is no acute inflammation to better aid dissection of the delicate tissues.[3]
## Prognosis[edit]
Left untreated, urethral diverticulum can cause significant morbidity (sickness).[1]
During surgery, there is a risk for complications due to the highly vascular nature of the tissue. The urethral sphincters and its smooth muscle, as well as the neck of the bladder, can be injured regardless of the surgical approach. Other complications from surgery can include urinary incontinence, stress incontinence, a urethrovaginal fistula, or recurrent diverticula. Horseshoe-shaped diverticula and diverticula that completely surround the urethra are both associated with worse outcomes, as are those located close to the bladder, and large (over 3–4 cm) diverticula.[3]
## Epidemiology[edit]
The incidence of urethral diverticulum has been increasing in the 2000s, likely due to increasing diagnosis and detection of the condition. It is estimated to be present in as low as 0.02% of all women and as high as 6% of all women, and 40% of women with lower urinary tract symptoms.[1][2] Most symptomatic urethral diverticula are present in women from 30–60 years old.[3]
84% of periurethral masses are due to urethral diverticula.[1]
## In men[edit]
Urethral diverticulum can occur in men, and can cause complications including kidney stones and urinary tract infections.[5]
## References[edit]
1. ^ a b c d e f g El-Nashar, Sherif A.; Bacon, Melissa M.; Kim-Fine, Shunaha; Weaver, Amy L.; Gebhart, John B.; Klingele, Christopher J. (2014-01-01). "Incidence of Female Urethral Diverticulum: A Population-Based Analysis and Literature Review". International Urogynecology Journal. 25 (1): 73–79. doi:10.1007/s00192-013-2155-2. ISSN 0937-3462. PMC 4317296. PMID 23857063.
2. ^ a b c d Hoffman, Barbara; Schorge, John; Schaffer, Joseph; Halvorson, Lisa; Bradshaw, Karen; Cunningham, F. (2012-04-12). Williams Gynecology, Second Edition. McGraw Hill Professional. ISBN 9780071716727.
3. ^ a b c d e f g h i j k Foley, Charlotte L.; Greenwell, Tamsin J.; Gardiner, Robert A. (2011-11-01). "Urethral diverticula in females". BJU International. 108 Suppl 2: 20–23. doi:10.1111/j.1464-410X.2011.10714.x. ISSN 1464-410X. PMID 22085121.
4. ^ Dr Aniruddha Kulkarni, Dr Ashfaque Tinmaswala, Dr Shubhangi shetkar et al Acquired urethral diverticulum in a neonate - A rare case report international journal of medical case reports vol 2 issue 3- 2016 page 10-13 https://static.wixstatic.com/ugd/3df4f0_6bfd788d896b4c4b87e05f2644eaaaa3.pdf?dn=Urethral+diverticulum+case+report+publish.pdf
5. ^ Mohanty, D.; Garg, Pk; Jain, Bk; Bhatt, S. (2014-03-01). "Male urethral diverticulum having multiple stones". Annals of Medical and Health Sciences Research. 4 (Suppl 1): S53-55. doi:10.4103/2141-9248.131719. ISSN 2141-9248. PMC 4083710. PMID 25031909.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Urethral diverticulum
|
c0152443
| 25,801 |
wikipedia
|
https://en.wikipedia.org/wiki/Urethral_diverticulum
| 2021-01-18T18:28:57 |
{"umls": ["C0152443"], "wikidata": ["Q18558107"]}
|
Urogenital fistula
Other namesUrogenital fistulas, urogenital fistulae
A urogenital fistula is an abnormal tract that exists between the urinary tract and bladder, ureters, or urethra. A urogenital fistula can occur between any of the organs and structures of the pelvic region. A fistula allows urine to continually exit through and out the urogenital tract. This can result in significant disability, interference with sexual activity, and other physical health issues, the effects of which may in turn have a negative impact on mental or emotional state, including an increase in social isolation.[1] Urogenital fistulas vary in etiology (medical cause). Fistulas are usually caused by injury or surgery, but they can also result from malignancy, infection, prolonged and obstructed labor and deliver in childbirth, hysterectomy, radiation therapy or inflammation.[1] Of the fistulas that develop from difficult childbirth, 97 percent occur in developing countries. Congenital urogenital fistulas are rare; only ten cases have been documented.[2] Abnormal passageways can also exist between the vagina and the organs of the gastrointestinal system, and these may also be termed fistulas.[2]:673
## Contents
* 1 Classification
* 2 Causes
* 3 Treatment
* 4 Epidemiology
* 5 Rectovaginal fistulas
* 6 See also
* 7 References
## Classification[edit]
Abnormal passageways or fistulas can exist between the vagina and bladder, ureters, uterus, and rectum with the resulting passage of urine from the vagina, or intestinal gas and feces into the vagina, in the case of a vaginal–rectal fistula.[1] These vaginal fistulas are named according to the origin of the defect:
* vesicovaginal
* urethrovaginal
* ureterovaginal
* vesicocervical
* vesicouterine[2][3]
* vesicouretovaginal[2]
* uterocervical
* vesicocervical
* uretercervical
* ureteruterine
* vesicouterine[2]
The vagina is susceptible to fistula formation because the gastrointestinal tract and urinary system are relatively close to the vagina.[4] A small number of vaginal fistulas are congenital.[5] The presence of a vaginal fistula has a profound effect on the quality of life since there is little control over the passage of urine and feces through the vagina.[6][7]
Urogenital fistulas are often classified according to their cause: obstetric fistula, congenital fistula and iatrogenic fistula. Urogenital fistulas can be classified by size and more specific anatomical location such as 'upper vagina' or 'posterior vaginal wall'.[citation needed]
## Causes[edit]
In developed countries, the causes of fistulas are iatrogenic (caused by surgical accidents). Physician error and lack of training contribute to the unsuccessful treatment of obstetric fistulas in developing countries.[8][6] Injuries to pelvic organs are a cause of fistulas.[8][4] Most of those not caused by obstructed labor develop from injuries. An example of this would be the improper placement of an instrument during a hysterectomy.[9] Fistulas can form after long-term pessary use,[10] hysterectomies, malignant disease and pelvic irradiation,[4][11][1] pelvic surgery, cancer or a pelvic fracture.[4][12] Fistulas are sometimes found after a cesarean section.[8] Providers can also inadvertently cause a fistula when performing obstetric or gynecological surgery. The more training the physician has had, the less likely a uro-vaginal fistula will occur. Some women develop more than one fistula.[8][6]
## Treatment[edit]
Surgery is often needed to correct a fistula leading to the vagina. Conservative treatment with an in-dwelling catheter can be effective for small and recently formed urinary fistulas. It has a success rate of 93%.[1][4] Collagen plugs are used but have been found not to be successful.[6] The surgical treatment to correct can be approached in different ways. Surgery through the vagina is successful 90% of the time. Surgical correction can be accomplished by abdominal surgery, by laparoscopic and robot-assisted laparoscopic surgery.[13] The various treatments vary in frequency. The transvaginal approach is used 39% of the time, transabdominal/transvesical approach is used 36% of the time, the laparoscopic/robotic approach is used to treat 15% of urogenital fistulas and a combination of transabdominal-transvaginal approach is used 3% of the time.[1]
## Epidemiology[edit]
Globally, 75 percent of urogenital fistulas are obstructive labor fistulas. The average age of a woman who develops a fistula due to prolonged labor is 28 years old. The average age of a woman who develops a fistula from other causes is 42 years old.[8] Women with a small pelvis are more likely to develop a fistula. Though rare, a fistula can form after the minimally invasive oocyte retrieval part of infertility treatment.[14] Urogenital fistulas (vesicovaginal) caused by surgical complications occur at a frequency of 0.8 per 1000.[1]
## Rectovaginal fistulas[edit]
Main article: Rectovaginal fistula
Abnormal passage of stool through the vagina is caused by a rectovaginal fistula.[15] Treatment is often surgical with the use of tissue grafts.[15][16] The presence of bowel disease increases the risk of a rectovaginal fistula.[15] An entero-vaginal fistula can form between the bowel and the vagina.[17] Rectovaginal fistulae result from inflammatory bowel disease, Chrohn's disease trauma, or iatrogenic injury and diversions to other organs.[6][18] Episiotomies can cause the formation of a rectovaginal fistula.[18]
## See also[edit]
* Reproductive organs
* Urinary system
* Urogenital triangle
* Vaginal cysts
## References[edit]
1. ^ a b c d e f g Bodner-Adler B, Hanzal E, Pablik E, Koelbl H, Bodner K (2017-02-22). "Management of vesicovaginal fistulas (VVFs) in women following benign gynaecologic surgery: A systematic review and meta-analysis". PLOS One. 12 (2): e0171554. doi:10.1371/journal.pone.0171554. PMC 5321457. PMID 28225769.
2. ^ a b c d e Hoffman B, Schorge J, Schaffer J, Halvorson L, Bradshaw K, Cunningham F (2012). Williams Gynecology (2nd ed.). New York: McGraw-Hill Medical. pp. 677–683. ISBN 9780071716727. OCLC 779244257.
3. ^ Wong MJ, Wong K, Rezvan A, Tate A, Bhatia NN, Yazdany T (March 2012). "Urogenital fistula". Female Pelvic Medicine & Reconstructive Surgery. 18 (2): 71–8, quiz 78. doi:10.1097/spv.0b013e318249bd20. ISSN 2151-8378. PMID 22453314.
4. ^ a b c d e Priyadarshi V, Singh JP, Bera MK, Kundu AK, Pal DK (June 2016). "Genitourinary Fistula: An Indian Perspective". Journal of Obstetrics and Gynaecology of India. 66 (3): 180–84. doi:10.1007/s13224-015-0672-2. PMC 4870662. PMID 27298528.
5. ^ Fernández Fernández JÁ, Parodi Hueck L (September 2015). "[Congenital recto-vaginal fistula associated with a normal anus (type H fistula) and rectal atresia in a patient. Report of a case and a brief revision of the literature]". Investigacion Clinica. 56 (3): 301–307. PMID 26710545.
6. ^ a b c d e Maslekar S, Sagar PM, Harji D, Bruce C, Griffiths B (December 2012). "The challenge of pouch-vaginal fistulas: a systematic review". Techniques in Coloproctology. 16 (6): 405–14. doi:10.1007/s10151-012-0885-7. PMID 22956207.
7. ^ Cowgill KD, Bishop J, Norgaard AK, Rubens CE, Gravett MG (August 2015). "Obstetric fistula in low-resource countries: an under-valued and under-studied problem--systematic review of its incidence, prevalence, and association with stillbirth". BMC Pregnancy and Childbirth. 15: 193. doi:10.1186/s12884-015-0592-2. PMC 4550077. PMID 26306705. "Women with OF also suffer significant psychosocial repercussions, including isolation, divorce, loss of social roles—including the role of mother, for those whose infants are stillborn, loss of income, stigmatization, shame and diminished self-esteem."
8. ^ a b c d e Raassen TJ, Ngongo CJ, Mahendeka MM (December 2014). "Iatrogenic genitourinary fistula: an 18-year retrospective review of 805 injuries". International Urogynecology Journal. 25 (12): 1699–706. doi:10.1007/s00192-014-2445-3. PMC 4234894. PMID 25062654.
9. ^ Cron J. "Lessons From the Developing World: Obstructed Labor and the Vesico-Vaginal Fistula". Medscape. Retrieved 2018-01-13.
10. ^ Abdulaziz M, Stothers L, Lazare D, Macnab A (May–June 2015). "An integrative review and severity classification of complications related to pessary use in the treatment of female pelvic organ prolapse". Canadian Urological Association Journal. 9 (5–6): E400-6. doi:10.5489/cuaj.2783. PMC 4479661. PMID 26225188.
11. ^ Mellano EM, Tarnay CM (October 2014). "Management of genitourinary fistula". Current Opinion in Obstetrics and Gynecology. 26 (5): 415–23. doi:10.1097/gco.0000000000000095. PMID 25105561.
12. ^ Patel DN, Fok CS, Webster GD, Anger JT (December 2017). "Female urethral injuries associated with pelvic fracture: a systematic review of the literature". BJU International. 120 (6): 766–773. doi:10.1111/bju.13989. PMID 28805298.
13. ^ Tenggardjaja CF, Goldman HB (June 2013). "Advances in minimally invasive repair of vesicovaginal fistulas". Current Urology Reports. 14 (3): 253–61. doi:10.1007/s11934-013-0316-y. PMID 23475747.
14. ^ Spencer ES, Hoff HS, Steiner AZ, Coward RM (2017). "Immediate ureterovaginal fistula following oocyte retrieval: A case and systematic review of the literature". Urology Annals. 9 (2): 125–130. doi:10.4103/UA.UA_122_16. PMC 5405653. PMID 28479761.
15. ^ a b c Köckerling F, Alam NN, Narang SK, Daniels IR, Smart NJ (2015). "Treatment of Fistula-In-Ano with Fistula Plug - a Review Under Special Consideration of the Technique". Frontiers in Surgery. 2: 55. doi:10.3389/fsurg.2015.00055. PMC 4607815. PMID 26528482.
16. ^ Taylor D (2017-04-24). "Rectovaginal Fistula Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy". Medscape.
17. ^ Kraemer M, Kara D (2016). "Laparoscopic surgery of benign entero-vesical or entero-vaginal fistulae". International Journal of Colorectal Disease. 31 (1): 19–22. doi:10.1007/s00384-015-2395-3. PMC 4701784. PMID 26423060.
18. ^ a b Das B, Snyder M (March 2016). "Rectovaginal Fistulae". Clinics in Colon and Rectal Surgery. 29 (1): 50–6. doi:10.1055/s-0035-1570393. PMC 4755772. PMID 26929752.
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal 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
|
Urogenital fistula
|
c0853877
| 25,802 |
wikipedia
|
https://en.wikipedia.org/wiki/Urogenital_fistula
| 2021-01-18T18:39:44 |
{"umls": ["C0853877"], "wikidata": ["Q48207191"]}
|
A number sign (#) is used with this entry because of evidence that hereditary essential tremor-4 (ETM4) is caused by heterozygous mutation in the FUS gene (137070) on chromosome 16p11.
Mutation in the FUS gene can also cause amyotrophic lateral sclerosis-6 (ALS6; 608030).
For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).
Clinical Features
Merner et al. (2012) reported a large multigenerational family with essential tremor. The age at onset was variable, ranging from the first to the fifth decade. Life expectancy was normal, and several patients over the average age of ALS onset had no symptoms of that disease.
Inheritance
The transmission pattern of essential tremor in the family reported by Merner et al. (2012) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of a large family with hereditary essential tremor, Merner et al. (2012) identified a heterozygous mutation in the FUS gene (Q290X; 137070.0011). The mutation segregated with the disorder in all patients who were determined to be 'definitely' or 'probably' affected. However, only 54% of those who were 'possibly' affected carried the mutation, and 1 unaffected individual who was 24 years old also carried the mutation. The mutation, which was found by exome sequencing, was demonstrated to result in nonsense-mediated mRNA decay. Sequencing the FUS gene in 270 probands with essential tremor found that 3 patients had 2 different heterozygous mutations (R216C, 137070.0007 and P431L, 137070.0012). Two of these patients had a family history of the disorder, but family members were not available for study. ETM4 patient lymphoblastoid cells with the FUS mutations showed significantly lower overall expression of mutant FUS mRNA compared to cells from patients with ALS6 due to FUS mutations. In addition, ETM4 cells with the mutations showed a significant increase in FUS mRNA expression after treatment with the translation inhibitor puromycin, which was not seen with ALS6 FUS mutations. These findings indicated that truncating FUS mutations in ETM4 are associated with nonsense-mediated mRNA decay, whereas mutant FUS from ALS6 cells appear to escape nonsense-mediated mRNA decay. Thus, ETM4 may be due to loss of FUS function, whereas ALS6 may result from a toxic gain-of-function effect.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Tremor, action \- Tremor, postural MISCELLANEOUS \- Age at onset ranges from first to sixth decade MOLECULAR BASIS \- Caused by mutation in the fused in sarcoma gene (FUS, 137070.0007 ) ▲ 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
|
TREMOR, HEREDITARY ESSENTIAL, 4
|
c3539195
| 25,803 |
omim
|
https://www.omim.org/entry/614782
| 2019-09-22T15:54:16 |
{"omim": ["614782"]}
|
Group of birth defects of the brain or spinal cord
Neural tube defect
Illustration of a child with spina bifida, the most common NTD
SpecialtyMedical genetics
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops.
Specific types include: spina bifida which affects the spine, anencephaly which results in little to no brain, encephalocele which affects the skull, and iniencephaly which results in severe neck problems.[1]
NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide.[2] For example, spina bifida affects approximately 1,500 births annually in the United States, or about 3.5 in every 10,000 (0.035% of US births),[1][3] which has decreased from around 5 per 10,000 (0.05% of US births) since folate fortification of grain products was started.[3] The number of deaths in the US each year due to neural tube defects also declined from 1,200 before folate fortification was started to 840.[4]
## Contents
* 1 Types
* 1.1 Anencephaly
* 1.2 Encephaloceles
* 1.3 Hydranencephaly
* 1.4 Iniencephaly
* 1.5 Spina bifida
* 2 Cause
* 2.1 Folate deficiency
* 2.2 Gene-environment interaction
* 2.3 Other
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Types[edit]
There are two types of NTDs: open, which are more common, and closed. Open NTDs occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae (back bones). Examples of open NTDs are anencephaly, encephaloceles, hydranencephaly, iniencephaly, schizencephaly, and spina bifida. Rarer types of NTDs are called closed NTDs. Closed NTDs occur when the spinal defect is covered by skin. Common examples of closed NTDs are lipomyelomeningocele, lipomeningocele and tethered cord.
### Anencephaly[edit]
Anencephaly (without brain) is a neural tube defect that occurs when the head end of the neural tube fails to close, usually during the 23rd and 26th days of pregnancy, resulting in an absence of a major portion of the brain and skull. Infants born with this condition are born without the main part of the forebrain—the largest part of the cerebrum—and are usually blind, deaf and unconscious. The lack of a functioning cerebrum will ensure that the infant will never gain consciousness. Infants are either stillborn or usually die within a few hours or days after birth.
### Encephaloceles[edit]
Encephaloceles are characterized by protrusions of the brain through the skull that are sac-like and covered with membrane. They can be a groove down the middle of the upper part of the skull, between the forehead and nose, or the back of the skull. Due to the range in its location, encephaloceles are classified by the location as well as the type of defect it causes. Subtypes include occipital encephalocele, encephalocele of the carnival vault, and nasal encephaloceles (frontoethmoidal encephaloceles and basal encephaloceles), with approximately 80% of all encephaloceles occurring in the occipital area.[5] Encephaloceles are often obvious and diagnosed immediately. Sometimes small encephaloceles in the nasal and forehead are undetected. [6] Despite the wide range in its implications, encephaloceles are most likely to be caused by improper separation of the surface ectoderm and the neuroectoderm after the closure of the neural folds in the fourth week of gastrulation.[7]
### Hydranencephaly[edit]
Hydranencephaly is a condition in which the cerebral hemispheres are missing and instead filled with sacs of cerebrospinal fluid. People are born with hydranencephaly, but most of the time, the symptoms appear in a later stage.Newborns with hydrancephaly can swallow, cry, sleep and their head is in proportion to their body. However, after a few weeks, the infants develop increased muscle tone and irritability. After a few months, the brain start to fill with cerebrospinal fluid (hydrocephalus). This has several consequences. Infants start to develop problems with seeing, hearing, growing, and learning. The missing parts of the brain and the amount of cerebrospinal fluid can also lead to seizures, spasm, problems with regulating their body temperature, and breathing and digestion problems. Besides problems in the brain, hydranencephaly can also be seen on the outside of the body. Hydrocephalus leads to more cerebrospinal fluid in the brain, which can result in an enlarged head.[8][9][10]
The cause of hydranencephaly is not clear. Hydranencephaly is a result of an injury of the nervous system or an abnormal development of the nervous system. The neural tube closes in the 6th week of the pregnancy,[11] so hydranencephaly develops during these weeks of the pregnancy. The cause of these injuries/development is not clear.
Theories regarding the causes of hydrancephaly include:[10]
* blockage in the carotid artery: some researchers think that a blockage of the carotid artery leads to the under-/no development of the brain. The carotid artery is the most important blood supplier of the brain. With a blockage, the brain barely receives blood. Blood is necessary for development and keeping intact of the brain.[10]
* inherited condition.[10]
* infections: during the pregnancy, a woman can develop an infection in the uterus what can lead to problems with the neural tube.[10]
* environmental toxins: during the pregnancy, a woman can be exposed to environmental toxins what can have effect on the health of the infant.[10]
### Iniencephaly[edit]
Iniencephaly is a rare neural tube defect that results in extreme bending of the head to the spine. The diagnosis can usually be made on antenatal ultrasound scanning, but if not will undoubtedly be made immediately after birth because the head is bent backwards and the face looks upwards. Usually the neck is absent. The skin of the face connects directly to the chest and the scalp connects to the upper back. Individuals with iniencephaly generally die within a few hours after birth.
### Spina bifida[edit]
Spina bifida is further divided into two subclasses, spina bifida cystica and spina bifida occulta.
* Spina bifida cystica includes meningocele and myelomeningocele. Meningocele is less severe and is characterized by herniation of the meninges, but not the spinal cord, through the opening in the spinal canal. Myelomeningocele involves herniation of the meninges as well as the spinal cord through the opening.[12]
* Spina bifida occulta means hidden split spine.[13] In this type of neural tube defect, the meninges do not herniate through the opening in the spinal canal.[12]The most frequently seen form of spina bifida occulta is when parts of the bones of the spine, called the spinous process, and the neural arch appear abnormal on a radiogram, without involvement of the spinal cord and spinal nerves.[14] The risk of recurrence in those who have a first degree relative (a parent or sibling) is 5–10 times greater compared to the general population.[citation needed]
## Cause[edit]
### Folate deficiency[edit]
Inadequate levels of folate (vitamin B9) and vitamin B12 during pregnancy have been found to lead to increased risk of NTDs.[15][16] Although both are part of the same biopathway, folate deficiency is much more common and therefore more of a concern.[15][16] Folate is required for the production and maintenance of new cells, for DNA synthesis and RNA synthesis. Folate is needed to carry one carbon groups for methylation and nucleic acid synthesis. It has been hypothesized that the early human embryo may be particularly vulnerable to folate deficiency due to differences of the functional enzymes in this pathway during embryogenesis combined with high demand for post translational methylations of the cytoskeleton in neural cells during neural tube closure.[17] Failure of post-translational methylation of the cytoskeleton, required for differentiation has been implicated in neural tube defects.[18] Vitamin B12 is also an important receptor in the folate biopathway such that studies have shown deficiency in vitamin B12 contributes to risk of NTDs as well.[19] There is substantial evidence that direct folic supplementation increases blood serum levels of bioavailable folate even though at least one study have shown slow and variable activity of dihydrofolate reductase in human liver.[20][21] A diet rich in natural folate (350 μg/d) can show as much increase in plasma folate as taking low levels of folic acid (250 μg/d) in individuals[22] However a comparison of general population outcomes across many countries with different approaches to increasing folate consumption has found that only general food fortification with folic acid reduces neural tube defects.[23] While there have been concerns about folic acid supplementation being linked to an increased risk for cancer, a systematic review in 2012 shows there is no evidence except in the case of prostate cancer which indicates a modest reduction in risk.[24]
There have been studies showing the relationship between NTDs, folate deficiency and the difference of skin pigmentation within human populations across different latitudes. There are many factors that would influence the folate levels in human bodies: (i) the direct dietary intake of folic acid through fortified products, (ii) environmental agents such as UV radiation. In concern with the latter, the UV radiation-induced folate photolysis has been shown via in vitro and in vivo studies to decrease the folate level and implicate in etiology of NTDs not only in humans but other amphibian species. Therefore, a protection against the UV radiation-induced photolysis of folate is imperative for the evolution of human populations living in tropical regions where the exposure to UV radiation is high over the year. One body natural adaptation is to elevate the concentration of melanin inside the skin. Melanin works as either an optical filter to disperse the incoming UV radiation rays or free radical to stabilize the hazardous photochemical products. Multiple studies have demonstrated the highly melanized integument as a defense against folate photolysis in native Americans or African Americans correlates with lower occurrence of NTDs in general.[25][26]
### Gene-environment interaction[edit]
A deficiency of folate itself does not cause neural tube defects. The association seen between reduced neural tube defects and folic acid supplementation is due to a gene-environment interaction such as vulnerability caused by the C677T Methylenetetrahydrofolate reductase (MTHFR) variant. Supplementing folic acid during pregnancy reduces the prevalence of NTDs by not exposing this otherwise sub-clinical mutation to aggravating conditions.[27] Other potential causes can include folate antimetabolites (such as methotrexate), mycotoxins in contaminated corn meal, arsenic, hyperthermia in early development, and radiation.[28][29][30] Maternal obesity has also been found to be a risk factor for NTDs.[31] Studies have shown that both maternal cigarette smoking and maternal exposure to secondhand smoke increased the risk for neural tube defects in offspring.[32] A mechanism by which maternal exposure to cigarette smoke could increase NTD risk in offspring is suggested by several studies that show an association between cigarette smoking and elevations of homocysteine levels.[citation needed] Cigarette smoke during pregnancy, including secondhand exposure, can increase the risk of neural tube defects.[33] All of the above may act by interference with some aspect of normal folic acid metabolism and folate linked methylation related cellular processes as there are multiple genes of this type associated with neural tube defects.[34]
### Other[edit]
Folic acid supplementation reduces the prevalence of neural tube defects by approximately 70% of neural tube defects indicating that 30% are not folate-dependent and are due to some cause other than alterations of methylation patterns.[35] Multiple other genes related to neural tube defects exist which are candidates for folate insensitive neural tube defects.[34] There are also several syndromes such as Meckel syndrome, and Triploid Syndrome which are frequently accompanied by neural tube defects that are assumed to be unrelated to folate metabolism[36]
## Diagnosis[edit]
Tests for neural tube defects include ultrasound examination and measurement of maternal serum alpha-fetoprotein (MSAFP). Second trimester ultrasound is recommended as the primary screening tool for NTDs, and MSAFP as a secondary screening tool.[37] This is due to increased safety, increased sensitivity and decreased false positive rate of ultrasound as compared to MSAFP.[37] Amniotic fluid alpha-fetoprotein (AFAFP) and amniotic fluid acetylcholinesterase (AFAChE) tests are also used to confirming if ultrasound screening indicates a positive risk.[38] Often, these defects are apparent at birth, but acute defects may not be diagnosed until much later in life. An elevated MSAFP measured at 16–18 weeks gestation is a good predictor of open neural tube defects, however the test has a very high false positive rate, (2% of all women tested in Ontario, Canada between 1993 and 2000 tested positive without having an open neural tube defect, although 5% is the commonly quoted result worldwide) and only a portion of neural tube defects are detected by this screen test (73% in the same Ontario study).[39] MSAFP screening combined with routine ultrasonography has the best detection rate although detection by ultrasonography is dependent on operator training and the quality of the equipment.[40][41]
## Prevention[edit]
In 1996, the United States Food and Drug Administration published regulations requiring the addition of folic acid to enriched breads, cereals, flour and other grain products.[42] It is important to note that during the first four weeks of pregnancy (when most women do not even realize that they are pregnant), adequate folate intake is essential for proper operation of the neurulation process. Therefore, women who could become pregnant are advised to eat foods fortified with folic acid or take supplements in addition to eating folate-rich foods to reduce the risks of serious birth defects.[43][44][45] In Canada, mandatory fortification of selected foods with folic acid has been shown to reduce the incidence of neural tube defects by 46%.[46]
Women who may become pregnant are advised to get 400 micrograms of folic acid daily. Women who have previously given birth to a child with a neural tube defect may benefit from a supplement containing 4.0 mg/5.0 mg in the UK mg daily, following advice provided by their doctor.[47]
## Treatment[edit]
As of 2008, treatments of NTDs depends on the severity of the complication. No treatment is available for anencephaly and infants usually do not survive more than a few hours. Aggressive surgical management has improved survival and the functions of infants with spina bifida, meningoceles and mild myelomeningoceles. The success of surgery often depends on the amount of brain tissue involved in the encephalocele. The goal of treatment for NTDs is to allow the individual to achieve the highest level of function and independence. Fetal surgery in utero before 26 weeks gestation has been performed with some hope that there is benefit to the final outcome including a reduction in Arnold–Chiari malformation and thereby decreases the need for a ventriculoperitoneal shunt but the procedure is very high risk for both mother and baby and is considered extremely invasive with questions that the positive outcomes may be due to ascertainment bias and not true benefit. Further, this surgery is not a cure for all problems associated with a neural tube defect. Other areas of research include tissue engineering and stem cell therapy but this research has not been used in humans.[48]
## Epidemiology[edit]
Deaths from neural tube defects per million persons in 2012
0–0
1–1
2–3
4–6
7–10
11–15
16–20
21–28
29–69
Neural tube defects resulted in 71,000 deaths globally in 2010.[49] It is unclear how common the condition is in low income countries.[50]
Prevalence rates of NTDs at birth used to be a reliable measure for the actual number of children affected by the diseases.[51] However, due to advances in technology and the ability to diagnose prenatally, the rates at birth are no longer reliable.[51] Measuring the number of cases at birth may be the most practical way, but the most accurate way would be to include stillbirths and live-births.[51] Most studies that calculate prevalence rates only include data from live-births and stillborn children and normally exclude the data from abortions and miscarriages.[51] Abortions are a huge contributing factor to the prevalence rates; one study found that in 1986 only a quarter of the pregnancies with an identified NTD were aborted, but that number had already doubled by 1999.[51] Through this data, it's clear that excluding data from abortions could greatly affect the prevalence rates. This could also possibly explain why prevalence rates have appeared to drop. If abortions aren't being included in the data but half of the identified cases are being aborted, the data could show that prevalence rates are dropping when they actually aren't. However, it is unclear how much of an impact these could have on prevalence rates due to the fact that abortion rates and advances in technology vary greatly by country.[51]
There are many maternal factors that also play a role in prevalence rates of NTDs.[51] These factors include things like maternal age and obesity all the way to things like socioeconomic status along with many others.[51] Maternal age hasn't been shown to have a huge impact on prevalence rates, but when there has been a relationship identified, older mothers along with very young mothers are at an increased risk.[51] While maternal age may not have a huge impact, mothers that have a body mass index greater than 29 double the risk of their child having an NTD.[51] Studies have also shown that mothers with three or more previous children show moderate risk for their next child having an NTD.[51]
## References[edit]
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23. ^ International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? BMJ 2005;330:571
24. ^ Wein, TN; Pike, E; Wisløff, T; Staff, A; Smeland, S; Klemp, M (12 January 2012). "Cancer risk with folic acid supplements: a systematic review and meta-analysis". BMJ Open. 2 (1): e000653. doi:10.1136/bmjopen-2011-000653. PMC 3278486. PMID 22240654.
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27. ^ Yan, L; Zhao, L; Long, Y; Zou, P; Ji, G; Gu, A; Zhao, P (October 3, 2012). "Association of the Maternal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects in Offsprings: Evidence from 25 Case-Control Studies". PLOS ONE. 7 (10): e41689. Bibcode:2012PLoSO...741689Y. doi:10.1371/journal.pone.0041689. PMC 3463537. PMID 23056169.
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30. ^ Zhou, F. C.; Fang, Y.; Goodlett, C. (2008). "Peptidergic Agonists of Activity-Dependent Neurotrophic Factor Protect Against Prenatal Alcohol-Induced Neural Tube Defects and Serotonin Neuron Loss". Alcoholism: Clinical and Experimental Research. 32 (8): 1361–71. doi:10.1111/j.1530-0277.2008.00722.x. PMC 2758042. PMID 18565153.
31. ^ Huang, Hai-Yan; Chen, Hong-Lin; Feng, Li-Ping (March 2017). "Maternal obesity and the risk of neural tube defects in offspring: A meta-analysis". Obesity Research & Clinical Practice. 11 (2): 188–197. doi:10.1016/j.orcp.2016.04.005. ISSN 1871-403X. PMID 27155922.
32. ^ Wang, M; Wang, ZP; Gong, R; Zhao, ZT (January 2014). "Maternal smoking during pregnancy and neural tube defects in offspring: a meta-analysis". Child's Nervous System. 30 (1): 83–89. doi:10.1007/s00381-013-2194-5. PMID 23760473. S2CID 40996359.
33. ^ Meng, Xin; Sun, Yanxin; Duan, Wenhou; Jia, Chongqi (2018). "Meta-analysis of the association of maternal smoking and passive smoking during pregnancy with neural tube defects". International Journal of Gynecology & Obstetrics. 140 (1): 18–25. doi:10.1002/ijgo.12334. ISSN 1879-3479. PMID 28963797. S2CID 20885736.
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37. ^ a b Wilson, R. Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann (October 2014). "Prenatal Screening, Diagnosis, and Pregnancy Management of Fetal Neural Tube Defects". Journal of Obstetrics and Gynaecology Canada. 36 (10): 927–939. doi:10.1016/s1701-2163(15)30444-8. PMID 25375307.
38. ^ Milunsky A, Alpert E (1984). "Results and benefits of a maternal serum alpha-fetoprotein screening program". JAMA. 252 (11): 1438–42. doi:10.1001/jama.252.11.1438. PMID 6206249.
39. ^ Summer Maternal Serum Screening in Ontario Using the Triple Marker Test J Med Screen September 2003 vol. 10 no. 3 107–11.
40. ^ Boyd, PA; Devigan, C.; Khoshnood, B.; Loane, M.; Garne, E.; Dolk, H. (2008). "Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome". BJOG: An International Journal of Obstetrics and Gynaecology. 115 (6): 689–696. doi:10.1111/j.1471-0528.2008.01700.x. PMC 2344123. PMID 18410651.
41. ^ Norem et.al Routine Ultrasonography Compared With Maternal Serum Alpha-fetoprotein for Neural Tube Defect Screening Obstetrics & Gynecology: October 2005 Vol 106:4 pp. 747–52
42. ^ Daly S, Mills JL, Molloy AM, Conley M, Lee YJ, Kirke PN, Weir DG, Scott JM (1997). "Minimum effective dose of folic acid for food fortification to prevent neural-tube defects". Lancet. 350 (9092): 1666–69. doi:10.1016/S0140-6736(97)07247-4. PMID 9400511. S2CID 39708487.
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44. ^ Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, Willett W (1989). "Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects". Journal of the American Medical Association. 262 (20): 2847–52. doi:10.1001/jama.262.20.2847. PMID 2478730.
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## External links[edit]
* "Neural Tube Defects". MedlinePlus. U.S. National Library of Medicine.
* St. Joseph's Hospital and Medical Center Fetal Care Center
* Preventing Neural Tube Birth Defects: A Prevention Model and Resource Guide: Centers for Disease Control and Prevention (CDC)
Classification
D
* ICD-10: Q00, Q01, Q05
* ICD-9-CM: 740, 741, 742
* OMIM: 182940 301410
* MeSH: D009436
* DiseasesDB: 8926
External resources
* eMedicine: neuro/244 ped/2805
* 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
* other reduction deformities
* Holoprosencephaly
* Lissencephaly
* Microlissencephaly
* Pachygyria
* Hydranencephaly
* Septo-optic dysplasia
* Megalencephaly
* Hemimegalencephaly
* CNS cyst
* Porencephaly
* Schizencephaly
* Polymicrogyria
* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
* Rachischisis
Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Neural tube defect
|
c0027794
| 25,804 |
wikipedia
|
https://en.wikipedia.org/wiki/Neural_tube_defect
| 2021-01-18T18:39:20 |
{"gard": ["4016"], "mesh": ["D009436"], "umls": ["C0027794"], "icd-9": ["741", "742", "740"], "icd-10": ["Q05", "Q01", "Q00"], "orphanet": ["3388"], "wikidata": ["Q548213"]}
|
## Clinical Features
Frank and Piper (1959) described 2 unrelated infants with congenital pulmonary cystic lymphangiectasis. One was stillborn and the other lived only about 2 hours. In 1 patient there were similar lesions in the heart, pancreas, kidneys, and mesentery.
Scott-Emuakpor et al. (1981) described the disorder in 2 sisters who showed acute respiratory distress soon after birth and died in the neonatal period. Changes at autopsy were limited to the lungs.
Moerman et al. (1993) reported on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis with bilateral chylothorax. They demonstrated that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathologic finding in spontaneous congenital chylothorax. These observations indicated a common pathogenesis for the 2 disorders. The authors suggested that the basic defect was not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence.
Njolstad et al. (1998) reported 3 sibs with nonimmune hydrops fetalis (236750), 2 of whom had histologic evidence of congenital pulmonary lymphangiectasia. One infant died at age 9 hours and another died in utero. Postmortem findings included subcutaneous edema, ascites, hydrothorax, and pleural effusions. The surviving child had frequent upper airway infections with simultaneously increasing edema of the arms and face. She had normal neurologic development. Njolstad et al. (1998) concluded that the nonimmune hydrops fetalis was secondary to primary pulmonary lymphangiectasia, and suggested an underlying genetic cause in this family.
Jacquemont et al. (2000) reported 3 French sibs and an unrelated girl with CPL. Nonimmune hydrops fetalis was observed in 3 patients, and was fatal in 1. Other variable prenatal findings included polyhydramnios and chylothorax. The main clinical features were facial and lower limb edema, episodic lymphangitis, and pleural effusions. One patient also had bilateral chylothorax. Chest radiographs showed chronic pleural effusions, pachypleuritis, and interstitial markings. Pulmonary biopsy of 1 patient showed signs of bronchodysplasia and lymph vessel ectasia. Other common features included mild growth retardation, hypertelorism, palpebral edema, flat nasal bridge, diffuse bone demineralization, and normal intelligence. Although histologic diagnosis of pulmonary lymphangiectasia had been noted by Njolstad et al. (1998) to be uncertain, Jacquemont et al. (2000) stated that chylothorax, chronic pleural effusions, and pleural membrane thickening were consistent with pulmonary lymphangiectasia, especially in the presence of normal cardiac findings. Jacquemont et al. (2000) noted the resemblance to Hennekam syndrome (235510), but concluded that their cases and the cases reported by Njolstad et al. (1998) represented a distinct nosologic entity.
Stevenson et al. (2006) reported 2 sibs with congenital nonimmune hydrops, pleural effusions, and chylothorax. One sib had histologically confirmed pulmonary lymphangiectasia. Both sibs died in the neonatal period. Stevenson et al. (2006) suggested that disordered lymphatic drainage was the basic defect leading to a secondary condition of CPL.
Inheritance
Moerman et al. (1993) concluded that the cause of CPL is heterogeneous. Most cases are apparently sporadic occurrences. They reported the second instance of CPL in sibs. Thus, some cases may be genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome, such as Noonan syndrome (163950), Turner syndrome, and Down syndrome.
INHERITANCE \- Autosomal recessive GROWTH Other \- Growth retardation, mild HEAD & NECK Face \- Flat face \- Facial edema Eyes \- Hypertelorism \- Palpebral edema Nose \- Flat, broad nasal bridge RESPIRATORY \- Recurrent respiratory infections Lung \- Pulmonary lymphangiectasia, congenital \- Pleural effusions, chronic \- Interstitial markings on x-ray \- Pachypleuritis \- Pleural membrane thickening \- Bronchodysplasia, mild CHEST \- Hydrothorax \- Chylothorax External Features \- Pectus excavatum ABDOMEN External Features \- Ascites \- Chylous ascites SKELETAL \- Bone demineralization, diffuse MUSCLE, SOFT TISSUES \- Edema, subcutaneous, generalized \- Edema is present at birth and then slowly decreases \- Edema of the lower limbs \- Edema of the face \- Edema reoccurs with infections \- Lymphangitis, episodic NEUROLOGIC Central Nervous System \- Normal intelligence IMMUNOLOGY \- Frequent respiratory infections PRENATAL MANIFESTATIONS Amniotic Fluid \- Hydrops fetalis, non-immune \- Polyhydramnios \- Chylothorax MISCELLANEOUS \- Often fatal in utero \- Variable severity ▲ 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
|
LYMPHANGIECTASIA, PULMONARY, CONGENITAL
|
c1849554
| 25,805 |
omim
|
https://www.omim.org/entry/265300
| 2019-09-22T16:23:01 |
{"mesh": ["C537727"], "omim": ["265300"], "orphanet": ["2414"], "synonyms": ["Alternative titles", "LYMPHANGIOMATOSIS, PULMONARY", "PULMONARY CYSTIC LYMPHANGIECTASIS"]}
|
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (September 2016)
Gingival disease
SpecialtyDentistry
A gingival disease is the term given to any disorder primarily affecting the gingiva.[1]
An example is gingivitis.
## Causes[edit]
Dental plaque accumulates at the surfaces when proper cleaning and maintaining is not done. There is inflammation due to the bacteria released from the toxins. calculus forms and if not removed, causes this disease.[2]
## References[edit]
1. ^ Bimstein, Enrique; Needleman, Howard L.; Dyke, Thomas E. Van (2001). Periodontal and Gingival Health and Diseases: Children, Adolescents and Young Adults. Thieme. p. 31. ISBN 9781853177811. Retrieved 13 November 2017.
2. ^ "Gum Disease (Gingivitis and Periodontitis) Symptoms, Treatments, Causes". WebMD.
## External links[edit]
Classification
D
* MeSH: D005882
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
* v
* t
* e
Dentistry involving supporting structures of teeth (Periodontology)
Anatomy
* Periodontium
* Alveolar bone
* Biologic width
* Bundle bone
* Cementum
* Free gingival margin
* Gingiva
* Gingival fibers
* Gingival sulcus
* Junctional epithelium
* Mucogingival junction
* Periodontal ligament
* Sulcular epithelium
* Stippling
Disease
Diagnoses
* Chronic periodontitis
* Localized aggressive periodontitis
* Generalized aggressive periodontitis
* Periodontitis as a manifestation of systemic disease
* Periodontosis
* Necrotizing periodontal diseases
* Abscesses of the periodontium
* Combined periodontic-endodontic lesions
Infection
* A. actinomycetemcomitans
* Capnocytophaga sp.
* F. nucleatum
* P. gingivalis
* P. intermedia
* T. forsythia
* T. denticola
* Red complex
* Entamoeba gingivalis (amoebic)
* Trichomonas tenax
Other
* Calculus
* Clinical attachment loss
* Edentulism
* Fremitus
* Furcation defect
* Gingival enlargement
* Gingival pocket
* Gingival recession
* Gingivitis
* Horizontal bony defect
* Linear gingival erythema
* Occlusal trauma
* Periodontal pocket
* Periodontal disease
* Periodontitis
* Plaque
* Vertical bony defect
Treatment and prevention
* Periodontal examination
* Ante's law
* Brushing
* Bleeding on probing
* Chlorhexidine gluconate
* Flossing
* Hydrogen peroxide
* Mouthwash
* Oral hygiene
* Tetracycline
* Triclosan
* Host modulatory therapy
Treatment
Conventional therapy
* Debridement
* Scaling and root planing
* Full mouth disinfection
* Full mouth ultrasonic debridement
Surgery
* Apically positioned flap
* Bone graft
* Coronally positioned flap
* Crown lengthening
* Free gingival graft
* Gingival grafting
* Gingivectomy
* Guided bone regeneration
* Guided tissue regeneration
* Enamel matrix derivative
* Implant placement
* Lateral pedicle graft
* Open flap debridement
* Pocket reduction surgery
* Socket preservation
* Sinus lift
* Subepithelial connective tissue graft
* Tools
* Curette
* Membrane
* Probe
* Scaler
Important personalities
* Tomas Albrektsson
* Frank Beube
* Per-Ingvar Brånemark
* Robert Gottsegen
* Gary Greenstein
* Jan Lindhe
* Brian Mealey
* Preston D. Miller
* Willoughby D. Miller
* Carl E. Misch
* John Mankey Riggs
* Jay Seibert
* Jørgen Slots
* Paul Roscoe Stillman
* Dennis P. Tarnow
* Hom-Lay Wang
* James Leon Williams
* W. J. Younger
Other specialties
* Endodontology
* Orthodontology
* Prosthodontology
This dentistry 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
|
Gingival disease
|
c0017563
| 25,806 |
wikipedia
|
https://en.wikipedia.org/wiki/Gingival_disease
| 2021-01-18T19:11:02 |
{"mesh": ["D005882"], "umls": ["C0017563"], "wikidata": ["Q5563106"]}
|
Fibrochondrogenesis
Fibrochondrogenesis has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
Fibrochondrogenesis is a rare[1] autosomal recessive[2] form of osteochondrodysplasia,[3] causing abnormal fibrous development of cartilage and related tissues.[4]
It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism,[1] exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of fibroblasts, specialized cells that make up fibrous connective tissue, which plays a role in the formation of cellular structure and promotes healing of damaged tissues).[4][5][6] Death caused by complications of fibrochondrogenesis occurs in infancy.[6]
## Contents
* 1 Presentation
* 2 Cause
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 Research
* 8 See also
* 9 References
* 10 External links
## Presentation[edit]
Fibrochondrogenesis is a congenital disorder presenting several features and radiological findings, some which distinguish it from other osteochondrodysplasias.[7] These include: fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage);[4][5] and flared, widened long bone metaphyses (the portion of bone that grows during childhood).[6][8]
Other prominent features include dwarfism,[1] shortened ribs that have a concave appearance,[6] micrognathism (severely underdeveloped jaw),[7] macrocephaly (enlarged head),[8] thoracic hypoplasia (underdeveloped chest),[8] enlarged stomach,[8] platyspondyly (flattened spine),[6] and the somewhat uncommon deformity of bifid tongue (in which the tongue appears split, resembling that of a reptile).[7]
## Cause[edit]
The cause of platyspondyly in fibrochondrogenesis can be attributed in part to odd malformations and structural flaws found in the vertebral bodies of the spinal column in affected infants.[4][6]
Fibrochondrogenesis alters the normal function of chondrocytes, fibroblasts, metaphyseal cells and others associated with cartilage, bone and connective tissues.[2][3][4] Overwhelming disorganization of cellular processes involved in the formation of cartilage and bone (ossification), in combination with fibroblastic degeneration of these cells, developmental errors and systemic skeletal malformations describes the severity of this lethal osteochondrodysplasia.[3][4][6][8]
## Genetics[edit]
Fibrochondrogenesis is inherited in an autosomal recessive pattern.[4] This means that the defective gene responsible for the disorder is located on an autosome, and two copies of the gene — one copy inherited from each parent — are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Currently, no specific genetic mutation has been established as the cause of fibrochondrogenesis.[9]
Omphalocele is a congenital feature where the abdominal wall has an opening, partially exposing the abdominal viscera (typically, the organs of the gastrointestinal tract). Fibrochondrogenesis is believed to be related to omphalocele type III, suggesting a possible genetic association between the two disorders.[10]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (July 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (July 2017)
## Epidemiology[edit]
Fibrochondrogenesis is quite rare.[1] A 1996 study from Spain determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births.[11]
A United Arab Emirates (UAE) University report, from early 2003, evaluated the results of a 5-year study on the occurrence of a broad range of osteochondrodysplasias.[12] Out of 38,048 newborns in Al Ain, over the course of the study period, fibrochondrogenesis was found to be the most common of the recessive forms of osteochondrodysplasia, with a prevalence ratio of 1.05:10,000 births.[12]
While these results represented the most common occurrence within the group studied, they do not dispute the rarity of fibrochondrogenesis. The study also included the high rate of consanguinous marriages as a prevailing factor for these disorders, as well as the extremely low rate of diagnosis-related pregnancy terminations throughout the region.[12]
## Research[edit]
The fibrocartilaginous effects of fibrochondrogenesis on chondrocytes has shown potential as a means to produce therapeutic cellular biomaterials via tissue engineering and manipulation of stem cells,[13][14] specifically human embryonic stem cells.[13]
Utilization of these cells as curative cartilage replacement materials on the cellular level has shown promise, with beneficial applications including the repair and healing of damaged knee menisci and synovial joints; temporomandibular joints, and vertebra.[13][14][15]
## See also[edit]
* Fibrocyte
* Boomerang dysplasia
* Cystic fibrosis
## References[edit]
1. ^ a b c d Kulkarni ML, Matadh PS, Praveen Prabhu SP, Kulkarni PM (Apr 2005). "Fibrochondrogenesis". Indian J Pediatr. 72 (4): 355–357. doi:10.1007/BF02724021. PMID 15876767.
2. ^ a b Leeners B, Funk A, Cotarelo CL, Sauer I (Jun 2004). "Two sibs with fibrochondrogenesis". Am J Med Genet A. 127 A (3): 318–320. doi:10.1002/ajmg.a.20620. PMID 15150788. S2CID 31673164.
3. ^ a b c Randrianaivo H, Haddad G, Roman H, Delezoide AL, Toutain A, Le Merrer M, Moraine C (Sep 2002). "Fetal fibrochondrogenesis at 26 weeks gestation". Prenat Diagn. 22 (9): 806–810. doi:10.1002/pd.423. PMID 12224076.
4. ^ a b c d e f g Whitley CB; Langer LO Jr.; Ophoven J; Gilbert EF; Gonzalez CH; Mammel M; Coleman M; Rosemberg S; Rodriques CJ; Sibley R; et al. (1984). "Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology". Am J Med Genet. 19 (2): 265–275. doi:10.1002/ajmg.1320190209. PMID 6507478.
5. ^ a b Lazzaroni-Fossati F, Stanescu V, Stanescu R, Serra G, Magliano P, Maroteaux P (1978). "Fibrochondrogenesis" [Fibrochondrogenesis]. Arch Fr Pediatr (in French). 35 (10): 1096–1104. PMID 749746.
6. ^ a b c d e f g Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL (1984). "Fibrochondrogenesis: radiologic and histologic studies". Am J Med Genet. 19 (2): 277–290. doi:10.1002/ajmg.1320190210. PMID 6507479.
7. ^ a b c Hunt NC, Vujanić GM (Jan 1998). "Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype". American Journal of Medical Genetics. 75 (3): 326–329. doi:10.1002/(SICI)1096-8628(19980123)75:3<326::AID-AJMG20>3.0.CO;2-Q. ISSN 0148-7299. PMID 9475607.
8. ^ a b c d e Mégarbané A, Haddad S, Berjaoui L (Jul 1998). "Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis". American Journal of Perinatology. 15 (7): 403–407. doi:10.1055/s-2007-993966. ISSN 0735-1631. PMID 9759906.
9. ^ Online Mendelian Inheritance in Man (OMIM): 282520
10. ^ Chen CP (Jan 2007). "Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others". Taiwan J Obstet Gynecol. 46 (2): 111–120. doi:10.1016/S1028-4559(07)60004-7. PMID 17638618.
11. ^ Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M (May 1996). "A new case of fibrochondrogenesis from Spain". J Med Genet. 33 (5): 429–431. doi:10.1136/jmg.33.5.429. ISSN 0022-2593. PMC 1050618. PMID 8733059.
12. ^ a b c Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A (Feb 2003). "Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population". Birth Defects Research. Part A, Clinical and Molecular Teratology. 67 (2): 125–132. doi:10.1002/bdra.10009. ISSN 1542-0752. PMID 12769508.
13. ^ a b c Hoben GM, Willard VP, Athanasiou KA (May 2008). "Fibrochondrogenesis of hESCs: Growth Factor Combinations and Cocultures". Stem Cells and Development. 18 (2): 283–92. doi:10.1089/scd.2008.0024. ISSN 1547-3287. PMC 3132948. PMID 18454697.
14. ^ a b Hoben GM, Koay EJ, Athanasiou KA (Feb 2008). "Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines". Stem Cells. 26 (2): 422–430. doi:10.1634/stemcells.2007-0641. ISSN 1066-5099. PMID 18032702.
15. ^ Fox DB, Cook JL, Arnoczky SP, Tomlinson JL, Kuroki K, Kreeger JM, Malaviya P (Jan 2004). "Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds". Tissue Engineering. 10 (1–2): 129–37. doi:10.1089/107632704322791772. ISSN 1076-3279. PMID 15009938.
## External links[edit]
Classification
D
* ICD-10: Q77.9
* ICD-9-CM: 756.4
* OMIM: 228520
* MeSH: C562524
* DiseasesDB: 34294
External resources
* Orphanet: 2021
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Fibrochondrogenesis
|
c3278138
| 25,807 |
wikipedia
|
https://en.wikipedia.org/wiki/Fibrochondrogenesis
| 2021-01-18T18:45:20 |
{"gard": ["2321"], "mesh": ["C562524"], "umls": ["C3278138"], "icd-9": ["756.4"], "orphanet": ["2021"], "wikidata": ["Q3071315"]}
|
Autoimmune inner ear disease
Other namesAIED
Cochlea, which is affected by this condition
SpecialtyAudiology, immunology
Autoimmune inner ear disease was first defined by Dr. Brian McCabe in a landmark paper describing an autoimmune loss of hearing.[1] The disease results in progressive sensorineural hearing loss (SNHL) that acts bilaterally and asymmetrically, and sometimes affects an individual's vestibular system. AIED is used to describe any disorder in which the inner ear is damaged as a result of an autoimmune response.[2] Some examples of autoimmune disorders that have presented with AIED are Cogan's syndrome, relapsing polychondritis, systemic lupus erythematosus, granulomatosis with polyangiitis, polyarteritis nodosa, Sjogren's syndrome, and Lyme disease.[3]
Research has come to the consensus that AIED is the result of antibodies or other immune cells that cause damage to structures of the inner ear such as the cochlea and vestibular system. Of note, AIED is the only known SNHL that responds to medical treatment, but withholding treatment for longer than three months may result in permanent hearing loss and the need for cochlear implant installation.[4]
Although AIED has been studied extensively over the past 25 years, no clear mechanism of pathogenesis has emerged. A recent paper[5] performed a literature review of all relevant articles dating back to 1980, and proposed a mechanism of pathogenesis which includes an inflammatory response and immune cell attack on inner ear structures. This response leads to an over-activation of other immune cells such as T helper cells, resulting in vascular changes and cochlear harm. AIED appears to be a consequence of damaged sensorineural hearing due to electrochemical disturbances, microthrombosis, and immune cell deposition. Additionally, self-reactive antibodies and T-cells contribute to the aforementioned damage. Research has suggested a valuable next step in uncovering AIED pathogenesis is inquiry into the role of interleukin-1β (IL-1β).[6][7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Signs and symptoms of AIED are:[3]
* Progressive hearing loss in both ears
* Typically will begin in one ear and gradually affect the other
* Hearing loss may begin suddenly
* Tinnitus (ringing or buzzing in ears)
* Decrease in word recognition capability
* Loss of balance (vestibular symptoms)
* Degree of balance loss can change throughout the course of the disease
## Causes[edit]
AIED is generally caused by either antibodies or immune cells that cause damage to the inner ear. There are several theories that propose a cause of AIED:
* Bystander damage – Physical damage to the inner ear may lead to cytokine release that signals for an immune response. This may be a component of the "attack/remission cycle" of Meniere's disease.[8]
* Cross-reactions – Accidental damage of the inner ear by antibodies or T-cells that recognize an inner ear antigen that is similar to a bacterial or viral antigen[9]
* Genetic factors – Predisposition to developing an autoimmune disorder based on genes inherited[9]
* Intolerance – The immune system may not be aware of all the antigens present in the inner ear until physical damage releases some of these antigens. As a result, the immune system treats these unfamiliar antigens as foreign and mounts an immune response.[9]
Currently, the cross-reactions theory appears to be the favored mechanism of AIED pathogenesis.[10]
## Diagnosis[edit]
Since AIED symptoms are fairly common to many hearing loss disorders, it may be difficult to diagnose AIED without performing multiple medical tests. Some examples of these tests include:[10]
* Hearing Tests for Progressive Hearing and Balance loss
* Audiometry (measure of hearing acuity and sound intensity)
* Rotatory Chair Test (determines if inner ear is responsible for balance loss)
* Electrocochleography (ECOG) (recording of electrical potential in inner ear due to sound)
* Blood Tests for General Autoimmune Diseases
* Erythrocyte sedimentation rate (test for inflammation)
* Rheumatoid Factor (indicator of autoimmune disorders)
There are also blood tests specific to inner ear disorders:
* Anti-cochlear antibody test (testing for antibodies against cochlear cells)
* Lymphocyte Transformation Assay (testing whether an individual has developed a T-cell response against a certain drug)[11]
Though it has also been proposed that the use of anti heat shock protein 70 antibodies may be useful in the detection and diagnosis of AIED, there is not enough evidence to confirm the reliability of this method.[12]
## Treatment[edit]
AIED treatment is a rapidly changing field. Several medical therapies have been proposed in the treatment of AIED, with corticosteroid therapy being the most effective. However, corticosteroid therapy (specifically with prednisone and dexamethasone) has demonstrated limited effectiveness in some patients, suggesting the need for novel treatment methods. The goal of most AIED treatments is to administer corticosteroids over a certain period of time, re-evaluate hearing at each appointment, and eventually taper off corticosteroid administration. Ideally, patients can be tapered off with hearing fully recovered, though this is the least likely outcome. Often, tumor necrosis factor-α (TNF-α) inhibitors must be administered alongside corticosteroids to achieve a favorable outcome and eventual end to corticosteroid treatment. Recent papers have indicated that the TNF-α inhibitor, infliximab, has the potential to allow for sustained patient improvement and alleviation of symptoms.[6][13][14]
Cytotoxic agents such as cyclophosphamide and methotrexate have been used in AIED treatment in the past; however, findings have suggested limited symptom alleviation from these drugs.[6][15]
## References[edit]
1. ^ McCabe, Brian (September 1979). "Autoimmune sensorineural hearing loss". Annals of Otology, Rhinology, and Laryngology. 88 (5 Pt 1): 585–9. doi:10.1177/000348947908800501. PMID 496191. S2CID 21133298.
2. ^ "Autoimmune Inner Ear Disease | Vestibular Disorders Association". vestibular.org. 2012-03-07. Retrieved 2016-02-11.
3. ^ a b "Autoimmune Inner Ear Disease". www.asha.org. Archived from the original on 2016-02-16. Retrieved 2016-02-11.
4. ^ "Autoimmune Inner Ear Disease (AIED) | American Hearing Research Foundation". american-hearing.org. Retrieved 2016-02-11.
5. ^ Goodall, A. F.; Siddiq, M. A. (2015-10-01). "Current understanding of the pathogenesis of autoimmune inner ear disease: a review". Clinical Otolaryngology. 40 (5): 412–419. doi:10.1111/coa.12432. ISSN 1749-4486. PMID 25847404. S2CID 41616626.
6. ^ a b c Rauch, Steven D. (2014-09-01). "IL-1β inhibition in autoimmune inner ear disease: can you hear me now?". The Journal of Clinical Investigation. 124 (9): 3685–3687. doi:10.1172/JCI77197. ISSN 1558-8238. PMC 4151210. PMID 25133418.
7. ^ Zhao, Ruijuan; Zhou, Hongyan; Su, Shao Bo (2013-11-01). "A critical role for interleukin-1β in the progression of autoimmune diseases". International Immunopharmacology. 17 (3): 658–669. doi:10.1016/j.intimp.2013.08.012. ISSN 1878-1705. PMID 24012439.
8. ^ Greco, A.; Gallo, A.; Fusconi, M.; Marinelli, C.; Macri, G.F.; Vincentiis, M. de (2012). "Meniere's disease might be an autoimmune condition?". Autoimmunity Reviews. 11 (10): 731–738. doi:10.1016/j.autrev.2012.01.004. PMID 22306860.
9. ^ a b c Kommareddi, Pavan K.; Nair, Thankam S.; Vallurupalli, Mounica; Telian, Steven A.; Arts, H. Alexander; El-Kashlan, Hussam K.; Sataloff, Robert T.; Carey, Thomas E. (2009-05-01). "Autoantibodies to recombinant human CTL2 in autoimmune hearing loss". The Laryngoscope. 119 (5): 924–932. doi:10.1002/lary.20136. ISSN 1531-4995. PMC 4128554. PMID 19319905.
10. ^ a b "Autoimmune Inner Ear Disease (AIED) | American Hearing Research Foundation". american-hearing.org. Retrieved 2016-02-11.
11. ^ Pichler, Werner J. (2014-01-01). "Lymphocyte Transformation Test". In Vohr, Hans-Werner (ed.). Encyclopedia of Immunotoxicology. Springer Berlin Heidelberg. pp. 1–5. doi:10.1007/978-3-642-27786-3_924-5. ISBN 9783642277863.
12. ^ Ianuale, Carolina; Cadoni, Gabriella; De Feo, Emma; Liberati, Luca; Simo, Rachel Kamgaing; Paludetti, Gaetano; Ricciardi, Walter; Boccia, Stefania (2013-02-01). "A systematic review and meta-analysis of the diagnostic accuracy of anti-heat shock protein 70 antibodies for the detection of autoimmune hearing loss". Otology & Neurotology. 34 (2): 214–219. doi:10.1097/MAO.0b013e31827d0b8b. ISSN 1537-4505. PMID 23295728. S2CID 1580427.
13. ^ Heywood, R. L.; Hadavi, S.; Donnelly, S.; Patel, N. (2013-11-01). "Infliximab for autoimmune inner ear disease: case report and literature review". The Journal of Laryngology and Otology. 127 (11): 1145–1147. doi:10.1017/S002221511300217X. ISSN 1748-5460. PMID 24125068.
14. ^ Gazeau, Pierre; Saraux, Alain; Devauchelle-Pensec, Valérie; Cornec, Divi (2014-09-01). "Long-term efficacy of infliximab in autoimmune sensorineural hearing loss associated with rheumatoid arthritis". Rheumatology (Oxford, England). 53 (9): 1715–1716. doi:10.1093/rheumatology/keu025. ISSN 1462-0332. PMID 24625506.
15. ^ Broughton, Shelley S.; Meyerhoff, William E.; Cohen, Stanley B. (2004-10-01). "Immune-mediated inner ear disease: 10-year experience". Seminars in Arthritis and Rheumatism. 34 (2): 544–548. doi:10.1016/j.semarthrit.2004.07.001. ISSN 0049-0172. PMID 15505770.
## External links[edit]
Classification
D
* ICD-9-CM: 388.8
External resources
* eMedicine: article/857511
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autoimmune inner ear disease
|
c1735590
| 25,808 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_inner_ear_disease
| 2021-01-18T18:39:49 |
{"gard": ["8582"], "wikidata": ["Q4826344"]}
|
Hypopyon
Hypopyon seen as yellowish exudate in lower part of anterior chamber of eye
SpecialtyOphthalmology
Hypopyon is a medical condition involving inflammatory cells in the anterior chamber of the eye.
It is an exudate rich in white blood cells, seen in the anterior chamber, usually accompanied by redness of the conjunctiva and the underlying episclera. It is a sign of inflammation of the anterior uvea and iris, i.e. iritis, which is a form of anterior uveitis. The exudate settles at the dependent aspect of the eye due to gravity. It can be sterile (in bacterial corneal ulcer) or not sterile (fungal corneal ulcer).
## Contents
* 1 Differential diagnosis
* 2 Treatment
* 3 See also
* 4 References
* 5 External links
## Differential diagnosis[edit]
Slit Lamp view of hypopyon
Hypopyon can be present in a corneal ulcer. Behçet's disease, endophthalmitis, panuveitis/panophthalmitis, and adverse reactions to some drugs (such as rifabutin).[1]
Hypopyon is also known as sterile pus, as it occurs due to the release of toxins and not by the actual invasion of pathogens. The toxins secreted by the pathogens mediate the outpouring of leukocytes that settle in the anterior chamber of the eye.
An inverse hypopyon is different from a standard hypopyon. Inverse hypopyon is seen after a pars plana vitrectomy with an insertion of silicone oil (as a replacement of the vitreous humour that has been removed in the operation; the silicone oil maintains internal tamponade). When the silicone oil emulsifies, it seeps into the anterior chamber and settles at the top of the anterior chamber. This is in contrast to hypopyon resulting from toxins where the leukocytes settle at the bottom of the anterior chamber. This is due to the effect of gravity, hence the name inverse hypopyon.
## Treatment[edit]
A hypopyon should not be drained, because it offers protection against the invading pathogen due to the presence of white blood cells, although long-standing hypopyon can cause close-angle glaucoma[2] and anterior synechiae.[3]
Intravitreal antibiotics can be used if endophthalmitis is suspected.
## See also[edit]
* Hyphema
* Uveitis
## References[edit]
1. ^ Huang, John H.; Gaudio, Paul A., eds. (2010). "Hypopyon". Ocular Inflammatory Disease and Uveitis: Diagnosis and Treatment. Lippincott Williams & Wilkins. p. 204.
2. ^ "Narrow-Angle Glaucoma". allaboutvision.com. Retrieved 16 November 2016.
3. ^ "Peripheral Anterior Synechia Treatment & Management: Medical Care, Surgical Care, Consultations". emedicine.medscape.com. 18 October 2016. Retrieved 16 November 2016.
## External links[edit]
Classification
D
* ICD-9-CM: 364.05
* DiseasesDB: 35115
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
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Conjunctiva
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* allergic
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* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
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* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
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* Kayser–Fleischer ring
* Haab's striae
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* Band keratopathy
Vascular tunic
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* Hyphema
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* Choroideremia
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* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
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* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypopyon
|
c0020641
| 25,809 |
wikipedia
|
https://en.wikipedia.org/wiki/Hypopyon
| 2021-01-18T18:28:39 |
{"umls": ["C0020641"], "wikidata": ["Q1638140"]}
|
A number sign (#) is used with this entry because of evidence that microcephaly, epilepsy, and diabetes syndrome (MEDS) is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene (609382) on chromosome 18q21.
Description
MEDS is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).
Clinical Features
De Wit et al. (2006) and Poulton et al. (2011) reported a male infant, born of consanguineous Moroccan parents, with a syndromic form of microcephaly. His head circumference was 2.5 SD below the mean at birth, and progressed to 3 SD below the mean at age 2 months. He had developmental delay, hypotonia, seizures, obesity, diabetes mellitus, and presumed hypogonadism. Brain MRI showed a simplified gyral pattern and EEG showed hypsarrhythmia. The diabetes and seizures were difficult to control and he died at age 18 months. Poulton et al. (2011) reported another consanguineous family in Argentina with a similar disorder. The index case had microcephaly with simplified gyral pattern, refractory seizures, and infantile diabetes mellitus. He died at age 27 months. Postmortem examination of an older affected sib showed extreme microcephaly with extreme gyral simplification. Microscopy showed reduced numbers of neurons in the cortex, hypomyelination, and apoptosis. The pancreas showed few and small islets with few insulin-positive beta cells.
Abdel-Salam et al. (2012) reported 4 patients from 2 unrelated consanguineous Egyptian families with MEDS. All presented soon after birth with neonatal permanent diabetes mellitus and severely delayed psychomotor development. Several patients had neonatal jaundice. Within the first months of life, all patients developed seizures, including myotonic and tonic-clonic, associated with polyspikes and slow waves with a burst-suppression pattern on EEG. Physical examination in the first years of life showed microcephaly (range -3.6 to -9 SD) associated with variable dysmorphic features, such as short forehead, bitemporal narrowing, anteverted nares, puffy cheeks, deep philtrum, tented upper lip, narrow palate, and gingival hypertrophy. Brain imaging showed simplified gyration pattern, cortical atrophy, and hypoplastic or agenesis of the corpus callosum with variable cerebellar vermis hypoplasia. All patients had skeletal anomalies, including osteopenia, slender bones with thin cortices, and sometimes pathologic fractures. More variable additional features included a boy with hirsutism, undescended testes, and hypoplastic scrotum, and a girl with optic atrophy. Laboratory studies showed abnormal liver enzymes in some patients and microalbuminuria in all. Three of the children were more severely affected, with almost no developmental progress and severe axial hypotonia necessitating gastric feeding in 2. These 3 children died before age 5 years, including 2 who had recurrent respiratory infections and died of pneumonia. The fourth child had normal muscle tone and primitive reflexes, visual fixation, and social smile at age 2 months. Abdel-Salam et al. (2012) noted the phenotypic overlap with Wolcott-Rallison syndrome (226980), which is caused by mutation in the EIF2AK3 gene (604032).
Shalev et al. (2014) reported a boy, born of unrelated parents, with MEDS. Bitemporal narrowing was noted on prenatal ultrasound at 23 weeks' gestation, and the patient showed microcephaly (-4 SD) at birth. He developed intractable generalized seizures associated with hypsarrhythmia around age 2 months, and soon after was diagnosed with diabetes mellitus. He had essentially no psychomotor development, cortical blindness, and lack of social smiling. Brain imaging showed a simplified gyral pattern. At age 4 years, physical examination showed retractile testes, coarse facies with large cheeks, long palpebral fissures, small mouth, thick philtrum, overfolded helices, hypertrichosis, and tapered fingers. He had no speech or voluntary motor activity, but diabetes was well controlled. He also had recurrent respiratory infections and died at age 8 years.
Inheritance
MEDS is an autosomal recessive disorder (Poulton et al., 2011).
Molecular Genetics
By homozygosity mapping followed by candidate gene sequencing in 2 consanguineous families with MEDS, Poulton et al. (2011) identified different homozygous mutations in the IER3IP1 gene (V21G, 609382.0001 and L78P, 609382.0002). Poulton et al. (2011) concluded that the disorder was due to abnormally increased apoptosis.
In 4 patients from 2 unrelated consanguineous Egyptian families with MEDS, Abdel-Salam et al. (2012) identified homozygosity for the L78P mutation in the IER3IP1 gene. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the families. Functional studies of the variant were not performed.
In a boy with MEDS, Shalev et al. (2014) identified compound heterozygous mutations in the IER3IP1 gene: V21G and c.79delT (609382.0003). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the family. The V21G mutation was inherited from the unaffected father, who was of mixed Libyan-Tangier origin, whereas the c.79delT mutation was inherited from the unaffected mother, who was of mixed Ashkenazi Jewish/Spanish/French origin. Functional studies of the variants were not performed.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (-3 to -9 SD) Face \- Short forehead \- Bitemporal narrowing \- Puffy cheeks Eyes \- Poor visual fixation \- Optic atrophy (1 patient) Nose \- Anteverted nares Mouth \- Tented upper lip \- High-arched palate \- Gingival hypertrophy (in some patients) RESPIRATORY \- Recurrent respiratory infections ABDOMEN Gastrointestinal \- Poor feeding GENITOURINARY External Genitalia (Male) \- Hypoplastic scrotum (2 patients) \- Small genitalia (2 patients) Internal Genitalia (Male) \- Cryptorchidism (1 patient) SKELETAL \- Osteopenia (in some patients) Limbs \- Cortical thinning of the long bones (in some patients) \- Pathologic fractures (in some patients) SKIN, NAILS, & HAIR Skin \- Jaundice MUSCLE, SOFT TISSUES \- Hypotonia, neonatal \- Edema of hands and feet (in some patients) NEUROLOGIC Central Nervous System \- Developmental delay, severe \- Mental retardation, profound \- Axial hypotonia \- Brisk reflexes \- Seizures \- Myoclonic seizures \- Burst suppression pattern seen on EEG \- Hypsarrhythmia \- Simplified gyral pattern \- Thin corpus callosum \- Cerebellar hypoplasia (in some patients) \- Delayed myelination \- Apoptosis of neurons ENDOCRINE FEATURES \- Diabetes mellitus, infantile \- Few and small islets of Langerhans \- Hypogonadism (2 patients) LABORATORY ABNORMALITIES \- Elevated liver enzymes (in some patients) \- Microalbuminuria (in some patients) MISCELLANEOUS \- Onset in utero \- Death often in early childhood MOLECULAR BASIS \- Caused by mutation in the immediate-early response 3-interacting protein 1 (IER3IP1, 609382.0001 ) ▲ 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
|
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
|
c3280240
| 25,810 |
omim
|
https://www.omim.org/entry/614231
| 2019-09-22T15:55:59 |
{"omim": ["614231"], "orphanet": ["306558"], "synonyms": []}
|
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Severe X-linked mitochondrial encephalomyopathy
|
c3151753
| 25,811 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238329
| 2021-01-23T17:19:03 |
{"omim": ["300816"], "icd-10": ["E88.8"], "synonyms": ["Mitochondrial encephalomyopathy due to COXPD6", "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to juvenile myoclonic epilepsy-1 (EJM1) is conferred by variation in the EFHC1 gene (608815) on chromosome 6p12.
See also susceptibility to juvenile absence epilepsy (JAE, EAJ; 607631), which is also conferred by variation in the EFHC1 gene.
Description
Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997).
### Genetic Heterogeneity of Juvenile Myoclonic Seizures
Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q23; EJM7 (see 613060), by variation in the GABRD gene (137163) on 1p36; EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q27; and EJM10 (617924), by variation in the ICK gene (612325) on chromosome 6p12.
In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36.
Clinical Features
Dreifuss (1989) gave a clinical review. He reported the case of a young college woman who sought medical treatment after experiencing her first generalized convulsive seizure, which occurred after a period of sleep deprivation and alcohol consumption. She had recalled occasional myoclonic jerks when she awoke in the morning. The ictal EEG shows a typical 4- to 6-Hz multispike and wave complex; the interictal EEG may be normal. Valproate controls seizures in most JME patients. JME is said to account for between 5.4 and 10.2% of epilepsy, but despite clinical and EEG features that should enable its easy identification, the rate of misdiagnosis remains high (Grunewald et al., 1992).
Liu et al. (1995) stated that juvenile myoclonic epilepsy is the most frequent form of hereditary grand mal epilepsy. In the EEG, 15- to 30-Hz multispikes are associated with myoclonic and tonic-clonic convulsions beginning at 8 to 20 years of age. Moreover, EEG 3.5- to 6-Hz multispike wave complexes appear in clinically asymptomatic family members.
Medina et al. (2008) reported a 4-generation family from Honduras in which 4 individuals had clinical features of juvenile myoclonic epilepsy. The proband had childhood absence epilepsy (see, e.g., ECA1; 600131) evolving to JME, and his sister had JME. Two affected relatives had febrile seizures and grand mal seizures, respectively. Seven additional family members with the mutation were clinically asymptomatic but had epileptiform-EEG patterns consisting of spontaneous and frequent 3 to 6-Hz diffuse and bilateral multispike wave complexes or bifrontal 5 to 7-Hz spikes.
Camfield and Camfield (2009) performed a questionnaire-based review of 23 patients with JME after a mean disease duration of 25.8 years. The mean age at onset of first seizure was 10.4 years. All patients had myoclonic and generalized tonic-clonic seizures, and 14 (60%) had a history of absence seizures. At the time of follow-up, 11 (48%) had discontinued antiepileptic medication: 6 were seizure-free, 3 had myoclonic seizures only, and 2 continued to have rare seizures. Status epilepticus occurred in 8 (36%) and intractable epilepsy in 3. About 65 to 77% reported they were 'very satisfied' with work, health, friendships, and social life, but 17 (74%) of 23 had at least 1 major unfavorable social outcome, such as unemployment, living alone, or unplanned pregnancy.
Other Features
Murray et al. (1994) investigated the incidence of psychiatric disorders among first-degree relatives of 23 patients with juvenile myoclonic epilepsy and 26 patients with acquired epilepsy. Psychiatric diagnoses were established in 7 probands with juvenile myoclonic epilepsy and 8 with acquired epilepsy. For juvenile myoclonic epilepsy patients without a psychiatric diagnosis, 18% of first-degree relatives had a psychiatric diagnosis, compared with 5% for the acquired epilepsy group. Depression was the most common psychiatric diagnosis in probands as well as family members. Murray et al. (1994) suggested that depressive illness may be a pleiotropic effect of a juvenile myoclonic epilepsy gene.
Using PET and a serotonin-1A receptor (HTR1A; 109760) antagonist, carbonyl-(11)C-WAY-100635, Meschaks et al. (2005) found that 11 patients with JME showed decreased serotonin-1A receptor binding in the dorsolateral prefrontal cortex, raphe nuclei, and hippocampus compared to controls. The authors suggested that the serotonin system is affected in JME and that the data provided evidence for regional brain differences in the disorder.
Using PET scans, Ciumas et al. (2008) found that 12 patients with JME had decreased binding to the dopamine transporter (SLC6A3; 126455) in the substantia nigra and midbrain compared to 12 controls. The patients also exhibited impaired psychomotor speed and motor function, which in some tests correlated with SLC6A3 binding potential in the midbrain. The findings implicated defects in dopamine signaling in JME and suggested a role for dopamine abnormalities in the neuropsychologic defects that are often observed in patients with JME.
Inheritance
Panayiotopoulos and Obeid (1989) concluded that JME is an autosomal recessive disorder. They found parental consanguinity in 9 of 17 sibships, and in 8 of the sibships more than 1 member was affected. Through an extensive study of families of JME probands, Durner et al. (1991) concluded that the gene may be responsible for other types of idiopathic generalized epilepsy including epilepsy with absences and epilepsy with generalized tonic-clonic seizures.
Cossette et al. (2002) noted that the mode of inheritance remained debated. The family they studied exhibited clear autosomal dominant transmission.
Winawer et al. (2003) studied 84 persons from 31 families with myoclonic or absence seizures and found that 65% (20 families) were concordant for seizure type (myoclonic, absence, or both). In 2 families, all affected members had myoclonic seizures; in 12 families, all affected members had absence seizures; in 2 families, all affected members had myoclonic and absence seizures. The number of families concordant for JME was greater when compared to juvenile absence epilepsy (JAE; 607631) and childhood absence epilepsy (CAE; 600131), but not when JAE was compared to CAE. Winawer et al. (2003) concluded that there are distinct genetic effects on absence and myoclonic seizures, and suggested that examining seizure types as opposed to syndromes may be more useful in linkage studies.
Mapping
Liu et al. (1995) reported a 4-generation Los Angeles-Belize family in which 5 living members had juvenile myoclonic epilepsy and 4 clinically asymptomatic members had EEG multispike wave complexes consistent with JME. Linkage analysis in this family and 7 other multiplex pedigrees with JME suggested a disease locus at chromosome 6p21.2-p11 (lod score greater than 7 for D6S294 and D6S257 at theta = 0.0). By multipoint analyses and findings of recombinants in 3 new families with JME, Liu et al. (1996) narrowed the disease locus to a 7-cM interval flanked by D6S272 and D6S257. Multiple families were found to be unlinked to 6p, indicating locus heterogeneity.
To narrow the JME region on chromosome 6p, Bai et al. (2002) ascertained and genotyped 31 new JME families from Mexico, using a later generation of Genethon microsatellite markers at 6p12-p11. Significant lod scores were obtained in the region, and haplotype and recombination analysis refined the JME locus to a 3.53-cM interval flanked by D6S272 and D6S1573, approximately 30 cM centromeric to the HLA region. The model assumed autosomal dominant inheritance with 70% penetrance.
### Genetic Heterogeneity
Whitehouse et al. (1993) reported linkage analysis in a set of 25 families that included a patient with JME and at least one first-degree relative with idiopathic generalized epilepsy. Family members were typed for 8 polymorphic loci on chromosome 6p. Pairwise and multipoint linkage analysis was carried out assuming autosomal dominant and autosomal recessive inheritance and age-dependent high or low penetrance. No significant evidence in favor of linkage was obtained at any locus. Multipoint linkage analysis generated significant exclusion data, i.e., lod score less than -2.0, at HLA (142800) on chromosome 6p21 and for a region 10 to 30 cM telomeric to HLA, the extent of the region varying with the level of penetrance assumed. These observations indicated that genetic heterogeneity exists within the phenotype of JME.
Elmslie et al. (1996) performed a linkage study of a group of 19 families in which 2 or more individuals were affected with clinical JME, as stringently defined, using 7 marker loci that encompass HLA and the entire region between HLA and the centromere. The region formally excluded (i.e., lod score less than -2 using multipoint analysis) varied depending on the assumption made concerning inheritance parameters and the proportion of linked families (i.e., the degree of locus heterogeneity), but the authors concluded there was no linkage to chromosome 6p in their families.
Molecular Genetics
In affected members of 6 unrelated families with juvenile myoclonic epilepsy, Suzuki et al. (2004) identified several heterozygous mutations in the EFHC1 gene (608815.0001-608815.0005). Several unaffected family members carried mutations, indicating reduced penetrance. The affected families included the Belize kindred reported by Liu et al. (1995) and several of the Mexican families reported by Bai et al. (2002).
Medina et al. (2008) identified 5 novel mutations in transcripts A and B of the EFHC1 gene (see, e.g., 608815.0008) in 4 (9%) of 44 Hispanic patients from Mexico and Honduras and in 2 (3%) of 67 Japanese patients with juvenile myoclonic epilepsy. Clinically unaffected mutation carriers had abnormal EEG patterns.
Population Genetics
Bai et al. (2002) stated that juvenile myoclonic epilepsy accounts for 4 to 11% of all epilepsies.
Nomenclature
A locus for juvenile myoclonic epilepsy linked to HLA on chromosome 6p21.3 was originally termed 'EJM1' (Sander et al., 1995). Since then, EJM1 has been used to refer to a different JME phenotype caused by mutation in the EFHC1 gene (608815) on chromosome 6p12-p11 (Suzuki et al., 2004).
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Myoclonic jerks \- Generalized tonic-clonic seizures \- Absence seizures \- Photosensitivity in one-third of patients \- Status epilepticus may occur \- Normal intelligence \- 3-6 Hz polyspike EEG MISCELLANEOUS \- Mean age at onset is 10.4 years \- Seizures tend to occur upon awakening \- Seizures precipitated by fatigue or alcohol \- Approximately one-third of patients become seizure-free with age MOLECULAR BASIS \- Susceptibility conferred by mutation in the EF-hand domain (C-terminal)-containing protein 1 gene (EFHC1, 608815.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
EPILEPSY, MYOCLONIC JUVENILE
|
c0270853
| 25,812 |
omim
|
https://www.omim.org/entry/254770
| 2019-09-22T16:24:40 |
{"doid": ["4890"], "mesh": ["D020190"], "omim": ["254770"], "orphanet": ["307"], "synonyms": ["Alternative titles", "MYOCLONIC EPILEPSY, JUVENILE", "PETIT MAL, IMPULSIVE", "JANZ SYNDROME"]}
|
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lowry-Wood syndrome
|
c0796021
| 25,813 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1824
| 2021-01-23T18:41:09 |
{"gard": ["264"], "mesh": ["C537038"], "omim": ["226960"], "umls": ["C0796021"], "icd-10": ["Q87.5"], "synonyms": ["Epiphyseal dysplasia-microcephaly-nystagmus syndrome"]}
|
A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.
## Epidemiology
Neuroleptic malignant syndrome (NMS) occurs in 1/5,000 to 10,000 patients treated with antipsychotics or other central dopamine (D2) receptor antagonists (all age groups; male:female ratio 2:1 in some studies; higher incidence rates have been reported in the past). The incidence may be lower with newer less potent antipsychotics and with reduced severity of symptoms, particularly for clozapine.
## Clinical description
In about 16% of patients, the syndrome occurs within 24 hours after the initiation of the antipsychotic treatment, 66% within the first week, and less commonly within or after 30 days on stable medication regimens. Manifestations include hyperthermia, muscular rigidity and tremor, mental status alteration and autonomic dysfunction. Other signs may include profuse diaphoresis, tachycardia, tachypnea, labile blood pressure, acidosis, incontinence, and elevated serum creatine kinase (CK) and transaminases from rhabdomyolysis with risk of subsequent renal failure. Once symptoms develop, they last on average 7-10 days after discontinuation of oral triggering drugs, with peak intensity within the first 72 hours. Risk factors include prior NMS episodes, physical exhaustion, agitation, dehydration, pre-existing catatonia, use of restraints, use of high doses, high potency drugs, acute parenteral forms of antipsychotics, and rapid antipsychotic dosage increase.
## Etiology
The syndrome is thought to result from acute central dopamine receptor blockade. All antipsychotic agents, typical or atypical, may trigger the syndrome, although potent antipsychotics (haloperidol, fluphenazine) are more frequently associated. Dopamine blocking agents used in non-psychiatric settings (metoclopramide, prochlorperazine, droperidol) and dopamine depleting agents (tetrabenazine) have also been implicated.
## Diagnostic methods
Diagnosis is based on clinical signs of the syndrome in the context of treatment with dopamine blocking agents, and the exclusion of alternative etiologies via thorough investigation with laboratory and imaging tests. Although elevated CK is a frequent correlate of muscle dysfunction in NMS, it is nonspecific. The likelihood of an NMS diagnosis can be assessed using the International Expert Consensus (IEC) criteria which are based on priority scores assigned to major clinical features (antipsychotic exposure, hyperthermia, rigidity, mental status changes, CK elevation, etc.). A total cut-off threshold score of ≥74 on the IEC criteria offers 69.6% sensitivity and 90.7% specificity in diagnosing NMS.
## Differential diagnosis
The differential diagnosis is of prime importance. It includes malignant hyperthermia of anesthesia, serotonin syndrome, parkinsonism hyperpyrexia syndrome, heat stroke, idiopathic malignant catatonia, infections (sepsis, meningitis, encephalitis), autoimmune disorders (limbic encephalitis with NMDA receptor antibodies, lupus cerebritis) delirium tremens, status epilepticus, salicylate poisoning, endocrinopathies, stroke, and brain trauma.
## Management and treatment
Immediate cessation of the antipsychotic medication and supportive measures (volume resuscitation, physical cooling) are essential in management. Specific treatments are unproven. Benefits in cases treated empirically based on phenomenology, severity and duration of symptoms with benzodiazepines, dopaminergic agents (bromocriptine, amantadine), dantrolene (in cases with extreme hyperthermia, rigidity and rhabdomyolysis) and electroconvulsive therapy have been reported. Careful monitoring for cardiorespiratory failure, renal failure, aspiration pneumonia and coagulopathies is required. Ventilatory assistance and dialysis may be required.
## Prognosis
After discontinuation of oral psychotropic agents, resolution usually occurs within 1-2 weeks in most uncomplicated cases. However, the syndrome is still potentially lethal. Death may result from sudden cardiorespiratory arrest, aspiration pneumonia, pulmonary emboli, myoglobinuric renal failure, or disseminated intravascular coagulation. Mortality rate is estimated at 5-10% with adverse outcomes more likely with potent antipsychotics, older age and pre-existing cardiorespiratory disease. Most patients recover completely but amnestic syndromes, extrapyramidal and cerebellar disorders, peripheral neuropathy, myopathy and contractures have been reported in rare cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Neuroleptic malignant syndrome
|
c0027849
| 25,814 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94093
| 2021-01-23T18:02:34 |
{"gard": ["7195"], "mesh": ["D009459"], "umls": ["C0027849"], "icd-10": ["G21.0"]}
|
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cobblestone lissencephaly without muscular or ocular involvement
|
c3554657
| 25,815 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352682
| 2021-01-23T17:36:53 |
{"omim": ["615191"], "icd-10": ["Q04.3"], "synonyms": ["Cobblestone lissencephaly without muscular or eye involvement", "Lissencephaly type 2 without muscular or eye involvement", "Lissencephaly type 2 without muscular or ocular involvement"]}
|
Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic mastocytosis or cutaneous mastocytosis. The infiltration of mast cells is thought to be a reactive, gut-specific phenomenon from unknown stimuli. It is unclear whether the accumulation of mast cells causes, or is a response to, the inflammation that causes the symptoms. Most people with this condition respond well to treatment, which may involve medications such as cetirizine, ranitidine, cromolyn sodium, or corticosteroids.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mastocytic enterocolitis
|
c2931091
| 25,816 |
gard
|
https://rarediseases.info.nih.gov/diseases/10176/mastocytic-enterocolitis
| 2021-01-18T17:59:13 |
{"mesh": ["C536032"], "umls": ["C2931091"], "synonyms": []}
|
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
## Epidemiology
BDE is very rare.
## Clinical description
Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature.
## Etiology
BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32).
## Antenatal diagnosis
It is inherited as an autosomal dominant trait with variable expressivity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Brachydactyly type E
|
c0265312
| 25,817 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93387
| 2021-01-23T18:37:33 |
{"gard": ["987"], "omim": ["113300", "613382"], "umls": ["C0265312"], "icd-10": ["Q73.8"]}
|
Urethral caruncle
SpecialtyUrology
A urethral caruncle is a benign cutaneous condition characterized by distal urethral lesions that are most commonly found in post-menopausal women. They appear red, and can be various sizes. They can have the appearance of a tumor. These epidermal growths are found around the posterior portion of the urethral meatus. They can bleed and occasionally cause dysuria and dyspareunia. The caruncles can be removed by surgery, electric cauterization and then with suture repair. Pathology studies are necessary to distinguish carcinoma of the urethra from urethral caruncles. Caruncles can grow back in some instances. Urethral caruncles can accompany the skin changes related to lowered estrogen levels. They can become a source of chronic hematuria, infection, and urethritis. [1][2]
## See also[edit]
* Unilateral palmoplantar verrucous nevus
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1070. ISBN 978-1-4160-2999-1.
2. ^ Abele, H (2014). Atlas of gynecologic surgery. Stuttgart: Thieme. ISBN 9783136507049.
## External links[edit]
Classification
D
* ICD-10: N36.2
* ICD-9-CM: 599.3
* DiseasesDB: 13554
* v
* t
* e
Diseases of the urinary tract
Ureter
* Ureteritis
* Ureterocele
* Megaureter
Bladder
* Cystitis
* Interstitial cystitis
* Hunner's ulcer
* Trigonitis
* Hemorrhagic cystitis
* Neurogenic bladder dysfunction
* Bladder sphincter dyssynergia
* Vesicointestinal fistula
* Vesicoureteral reflux
Urethra
* Urethritis
* Non-gonococcal urethritis
* Urethral syndrome
* Urethral stricture
* Meatal stenosis
* Urethral caruncle
Any/all
* Obstructive uropathy
* Urinary tract infection
* Retroperitoneal fibrosis
* Urolithiasis
* Bladder stone
* Kidney stone
* Renal colic
* Malakoplakia
* Urinary incontinence
* Stress
* Urge
* Overflow
This women's health related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Urethral caruncle
|
c0152247
| 25,818 |
wikipedia
|
https://en.wikipedia.org/wiki/Urethral_caruncle
| 2021-01-18T18:34:55 |
{"icd-9": ["599.3"], "icd-10": ["N36.2"], "wikidata": ["Q7900428"]}
|
A number sign (#) is used with this entry because Aicardi-Goutieres syndrome-4 (AGS4) is caused by homozygous or compound heterozygous mutation in the gene encoding subunit A of ribonuclease H2 (RNASEH2A; 606034) on chromosome 19p13.
For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).
Clinical Features
Sanchis et al. (2005) described 2 brothers, born of second-cousin parents of white Spanish ancestry, who had intrauterine growth retardation and clinical features suggestive of intrauterine infection but with negative bacteriologic and serologic investigations. At birth, the older brother was microcephalic with left peripheral facial paralysis and dysmorphic features including hooked nose with low-set anteriorly rotated ears. He had respiratory insufficiency requiring oxygen, hepatosplenomegaly, and spontaneous tremors with muscle tone shifting from hyper- to hypotonic. He did not cry, and he had reduced reflexes with absent sucking reflex. He developed clonic seizures a few hours after delivery. Cerebral ultrasonography and computed tomography demonstrated enlarged ventricles with abundant pericallosal calcifications, which also affected the thalamus, cerebellum, and brainstem. Brain MRI showed cerebral, cerebellar, and brainstem atrophy, with simplification of the gyri, predominantly of the frontotemporal lobes. Electroencephalogram revealed asymmetric interhemispheric and subcortical paroxysmal activity. Anemia, leukopenia, and thrombocytopenia were present, but resolved after 2 months of age; elevated liver enzymes persisted. At 7 years of age, the patient had short stature and was underweight and microcephalic. He exhibited severe psychomotor retardation with signs of bilateral spasticity affecting the upper and lower limbs, and continued to have seizures. He was unable to sit and had no speech. He died of pneumonia at 7 years of age. The younger brother also had microcephaly noted at birth, with dysmorphic features similar to those of his older brother as well as splenomegaly, hypertonicity, and seizures; he also had recurrent apneic episodes associated with generalized hypotonia and bradycardia for the first 2 weeks of life. He had mild anemia, moderate leukopenia, and a normal platelet count. Cerebral CT showed hydrocephalus; calcifications of the basal ganglia, internal capsule, cerebral cortex, and cerebellar white matter and peduncles; and cerebellar and mesencephalic atrophy. Cerebrospinal fluid showed lymphocytosis and elevated interferon-alpha (147660), and he had elevated liver enzymes. Examination at 13 months of age showed significant psychomotor retardation with little spontaneous movement and clonic movements in response to tactile stimuli; he did not visually fix or follow.
Mapping
In 2 Spanish brothers with Aicardi-Goutieres syndrome and their second-cousin parents, Sanchis et al. (2005) performed genotype analysis across the AGS1 critical interval. The patients were discordant across this region, suggesting linkage to a novel AGS locus.
Inheritance
The transmission pattern of AGS in the family reported by Sanchis et al. (2005) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 brothers with Aicardi-Goutieres syndrome from a consanguineous family of Spanish ancestry reported by Sanchis et al. (2005), Crow et al. (2006) identified a homozygous mutation in the RNASEH2A gene (606034.0001).
Rice et al. (2007) found RNASEH2A mutations in 3 of 127 pedigrees with a clinical diagnosis of AGS. Four children in these 3 families had biallelic mutations. Four of 5 mutations, 1 of which occurred in homozygous form, were missense. The patient with the homozygous mutation, who was affected at birth and required immediate support, died at 7 years of age. In 1 family Rice et al. (2007) identified a single mutation in RNASEH2A that had been inherited.
In a cohort of 251 families with a clinical diagnosis of AGS, Rice et al. (2013) identified 4 probands with synonymous mutations in the RNASEH2A gene, R25R (606034.0002) or V23V (606034.0004), present either in homozygosity or in compound heterozygosity with missense mutations (606034.0003-606034.0006). Their unaffected parents were each heterozygous for 1 of the mutations. Functional analysis confirmed the pathogenicity of the synonymous mutations.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation HEAD & NECK Head \- Microcephaly Ears \- Low-set ears \- Anteriorly rotated ears Eyes \- Visual inattention Nose \- Hooked nose RESPIRATORY Lung \- Respiratory insufficiency in neonatal period ABDOMEN Liver \- Hepatomegaly \- Abnormal liver function tests Spleen \- Splenomegaly Gastrointestinal \- Poor feeding NEUROLOGIC Central Nervous System \- Spasticity \- Clonic seizures \- Severe psychomotor retardation \- Hydrocephalus \- Enlarged ventricles \- Calcifications \- Leukodystrophy \- Cerebral atrophy \- Cerebellar atrophy \- Brain stem atrophy \- Elevated white cell count in cerebrospinal fluid \- Elevated interferon levels in cerebrospinal fluid \- Elevated pterin levels (tetrahydrobiopterin, neopterin) in cerebrospinal fluid HEMATOLOGY \- Pancytopenia IMMUNOLOGY \- No evidence of prenatal infection LABORATORY ABNORMALITIES \- Increased serum alpha-interferon (IFNA1, 147660 ) \- Increased CSF interferon \- CSF lymphocytosis MISCELLANEOUS \- Onset in first year of life MOLECULAR BASIS \- Caused by mutation in the ribonuclease H2, subunit A gene (RNASEH2A, 606034.0001 ) ▲ 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
|
AICARDI-GOUTIERES SYNDROME 4
|
c0393591
| 25,819 |
omim
|
https://www.omim.org/entry/610333
| 2019-09-22T16:04:45 |
{"doid": ["0050629"], "mesh": ["C535607"], "omim": ["610333"], "orphanet": ["51"], "genereviews": ["NBK1475"]}
|
Keratosis obturans is a relatively uncommon ear disease, where dense plug of keratin is present in the deep meatus of the ear. It is clinically diagnosed when removal of the debris shows silvery white peripheral matrix and causes excruciating pain.[1][2]
## Contents
* 1 Discovery
* 2 Signs and symptoms
* 3 Diagnosis
* 4 Treatment
* 5 References
## Discovery[edit]
Keratosis obturans was first properly described by Wreden of St. Petersburg in 1874, who differentiated this condition from impacted wax.[1][3] Peipergedes and Behnke were the first to define the distinctions between the two.[1]
## Signs and symptoms[edit]
The most common symptoms are hearing loss and severe pain secondary to the accumulation of keratin in the ear canal.[4] Keratosis obturans has been classified into four grades depending on the severity of symptoms:[5]
Grade Feature
Grade I Mild pain ± ear block with the presence of accumulated keratin enveloped by a tightly adherent matrix; no discernible expansion of external canal
Grade II Moderate to severe pain ± conductive deafness; presence of accumulated keratin enveloped by a tightly adherent matrix with mild expansion of the bony canal (arrow) in the presence of keratosis obturans.
Grade III Moderate to severe pain ± conductive deafness; presence of accumulated keratin enveloped by a tightly adherent matrix with expanded bony canal (arrow a) with granulation tissue (arrow b) at the osteo-cartilaginous junction.
Grade IV Presence of accumulated keratin enveloped by a tightly adherent matrix (grade III) with exposure of the mastoid air cells with/without facial nerve involvement
## Diagnosis[edit]
The diagnosis of keratosis obturans is clinical. Differentiation between keratosis obturans and impacted wax is difficult at first presentation. It is diagnosed only when attempted removal of the substance causes excruciating pain, and shows silvery white peripheral matrix. When the matrix is peeled, new capillaries that were formed within the matrix rupture, resulting in bleeding. It is possible that these new capillaries are formed as a result of inflammation of the surrounding bony canal.[1]
## Treatment[edit]
Canaloplasty, where the ear canal is widened using grafts, was first proposed as the treatment for keratois obturans. However, with the migration of keratin within the canal, any amount of widening could not restore the migration of skin. Reconstruction of the bony canal with cartilage graft from temporalis fascia has showed some results.[6] But firstly prefereed is cleaning with 1 percent acetic acid.
## References[edit]
1. ^ a b c d Chong, A. W.; Raman, R. (17 January 2017). "Keratosis Obturans: A Disease of the Tropics?". Indian Journal of Otolaryngology and Head & Neck Surgery. 69 (3): 291–295. doi:10.1007/s12070-017-1071-z. PMC 5581757. PMID 28929057.
2. ^ Naiberg, J.; Berger, G.; Hawke, M. (1 October 1984). "The Pathologic Features of Keratosis Obturans and Cholesteatoma of the External Auditory Canal". Archives of Otolaryngology–Head & Neck Surgery. 110 (10): 690–693. doi:10.1001/archotol.1984.00800360062016.
3. ^ Wreden, R (1874). "A peculiar form of obstruction of the auditory meatus". Archives of Ophthalmology and Otolaryngology.
4. ^ Piepergerdes, James C.; Kramer, Bernard M.; Behnke, Ernest E. (March 1980). "Keratosis obturans and external auditory canal cholesteatoma". The Laryngoscope. 90 (3): 383–391. doi:10.1002/lary.5540900303. PMID 7359960.
5. ^ Raman, Rajagopalan; Chong, Aun Wee (2017). "Keratosis Obturans: A Disease of the Tropics?". undefined. Retrieved 2 July 2019.
6. ^ "surgical treatment of keratosis obturans". www.gavinpublishers.com. Retrieved 2 July 2019.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Keratosis obturans
|
c0334020
| 25,820 |
wikipedia
|
https://en.wikipedia.org/wiki/Keratosis_obturans
| 2021-01-18T18:55:34 |
{"umls": ["C0334020"], "icd-10": ["H60.4"], "wikidata": ["Q65053368"]}
|
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome-18 (CMS18) is caused by heterozygous mutation in the SNAP25 gene (600322) on chromosome 20p11. One such patient has been reported.
Description
Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Clinical Features
Shen et al. (2014) reported a girl who presented at birth with stiffness, respiratory insufficiency, and multiple joint contractures. Decreased fetal movements had been noted during pregnancy. She showed severely delayed psychomotor development, achieving head control at age 2 years and walking only with assistance in late childhood. She had ptosis, easy fatigability, and ataxic gait. Additional features included staring spells, EEG abnormalities, and poor speech with dysarthria. EMG showed a decremental response to repetitive stimulation, and pyridostigmine therapy was ineffective. Muscle biopsy showed no morphologic abnormalities, and acetylcholine receptor (AChR) density and acetylcholinesterase (AChE) levels were normal. Brain imaging was also normal. In vitro analysis of neuromuscular transmission showed a reduced frequency of miniature endplate potentials (MEPPs) and decreased probability of quantal release compared to controls.
Molecular Genetics
In a girl with CMS18, Shen et al. (2014) identified a de novo heterozygous missense mutation in the SNAP25 gene (I67N; 600322.0001). The mutation, which affected the SNAP25B isoform, was found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro liposome fusion experiments showed that the I67N mutant interfered with calcium-induced fusion, and transfection of the mutation into chromaffin cells showed that it inhibited exocytosis of catecholamine-containing vesicles. The mutation exerted a dominant-negative effect.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Ptosis Neck \- Weak neck muscles RESPIRATORY \- Respiratory insufficiency, neonatal SKELETAL \- Joint contractures MUSCLE, SOFT TISSUES \- Muscle weakness \- Easy fatigability \- Decremental compound muscle action potential (CMAP) in response to repetitive nerve stimulation \- Decreased spontaneous miniature endplate potentials (MEPP) \- Decreased quantal release NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Ataxia \- Dysarthria \- Poor speech \- Difficulty walking \- Staring episodes \- Diffuse background slowing seen on EEG \- Atypical polyspike and wave discharges Peripheral Nervous System \- Areflexia PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements MISCELLANEOUS \- Onset in utero \- One patient has been reported (last curated April 2015) MOLECULAR BASIS \- Caused by mutation in the synaptosomal-associated protein, 25-kD gene (SNAP25, 600322.0001 ) ▲ 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
|
MYASTHENIC SYNDROME, CONGENITAL, 18
|
c0751884
| 25,821 |
omim
|
https://www.omim.org/entry/616330
| 2019-09-22T15:49:12 |
{"doid": ["0110683"], "mesh": ["D020294"], "omim": ["616330"], "orphanet": ["98914", "590"], "synonyms": ["Alternative titles", "MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA"], "genereviews": ["NBK1168"]}
|
Lipoatrophia annularis
Other namesFerreira–Marques lipoatrophia
SpecialtyDermatology
Lipoatrophia annularis is a skin condition affecting primarily women, characterized by the loss of subcutaneous fat in the upper extremity.[1]:497[2]
It is a form of lipodystrophy.[3]
## See also[edit]
* Lipoatrophia semicircularis
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Ferreira-Marques J. Lipoatrophia annularis. Arch Dermatol Syphilis 1953; 195: 479-91.
3. ^ Serrano Ríos; M. Type 2. Diabetes Mellitus. Elsevier España. pp. 327–. ISBN 978-84-8086-683-5. Retrieved 18 May 2010.
* v
* t
* e
Disorders of subcutaneous fat
Panniculitis
Lobular
* without vasculitis
* Cold
* Cytophagic histiocytic
* Factitial
* Gouty
* Pancreatic
* Traumatic
* needle-shaped clefts
* Subcutaneous fat necrosis of the newborn
* Sclerema neonatorum
* Post-steroid panniculitis
* Lipodermatosclerosis
* Weber–Christian disease
* Lupus erythematosus panniculitis
* Sclerosing lipogranuloma
* with vasculitis: Nodular vasculitis/Erythema induratum
Septal
* without vasculitis: Alpha-1 antitrypsin deficiency panniculitis
* Erythema nodosum
* Acute
* Chronic
* with vasculitis: Superficial thrombophlebitis
Lipodystrophy
Acquired
* generalized: Acquired generalized lipodystrophy
* partial: Acquired partial lipodystrophy
* Centrifugal abdominal lipodystrophy
* HIV-associated lipodystrophy
* Lipoatrophia annularis
* localized: Localized lipodystrophy
Congenital
* Congenital generalized lipodystrophy
* Familial partial lipodystrophy
* Marfanoid–progeroid–lipodystrophy syndrome
* Poland syndrome
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
|
Lipoatrophia annularis
|
None
| 25,822 |
wikipedia
|
https://en.wikipedia.org/wiki/Lipoatrophia_annularis
| 2021-01-18T18:37:07 |
{"wikidata": ["Q6556679"]}
|
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: "Taussig–Bing syndrome" – news · newspapers · books · scholar · JSTOR (May 2018) (Learn how and when to remove this template message)
Taussig–Bing syndrome
SpecialtyCardiac surgery
Taussig–Bing syndrome is a cyanotic congenital heart defect[1] in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).[2]
In DORV, instead of the normal situation where blood from the left ventricle (LV) flows out to the aorta and blood from the right ventricle (RV) flows out to the pulmonary artery, both aorta and pulmonary artery are connected to the RV, and the only path for blood from the LV is across the VSD. When the VSD is subpulmonic (sitting just below the pulmonary artery), the LV blood then flows preferentially to the pulmonary artery. Then the RV blood, by default, flows mainly to the aorta.
The clinical manifestations of a Taussig-Bing anomaly, therefore, are much like those of dextro-Transposition of the great arteries (but the surgical repair is different). It can be corrected surgically also with the arterial switch operation (ASO).
It is managed with Rastelli procedure. It is named after Helen B. Taussig and Richard Bing, who first described it in 1949.[3]
## References[edit]
1. ^ Konstantinov, Igor E. (2009). "Taussig-Bing Anomaly". Texas Heart Institute Journal. 36 (6): 580–585. ISSN 0730-2347. PMC 2801930. PMID 20069085.
2. ^ Ramrakha, Punit S.; Ramrakha, Punit; Hill, Jonathan (2012). Oxford Handbook of Cardiology. OUP Oxford. p. 707. ISBN 9780199643219.
3. ^ Konstantinov, Igor E. (2009). "Taussig-Bing Anomaly". Texas Heart Institute Journal. 36 (6): 580–585. ISSN 0730-2347. PMC 2801930. PMID 20069085.
## External links[edit]
Classification
D
* ICD-10: Q20.1
* ICD-9-CM: 745.11
* OMIM: 217095
* MeSH: D004310
* DiseasesDB: 32215
External resources
* eMedicine: ped/2509 ped/2508
* v
* t
* e
Congenital heart defects
Heart septal defect
Aortopulmonary septal defect
* Double outlet right ventricle
* Taussig–Bing syndrome
* Transposition of the great vessels
* dextro
* levo
* Persistent truncus arteriosus
* Aortopulmonary window
Atrial septal defect
* Sinus venosus atrial septal defect
* Lutembacher's syndrome
Ventricular septal defect
* Tetralogy of Fallot
Atrioventricular septal defect
* Ostium primum
Consequences
* Cardiac shunt
* Cyanotic heart disease
* Eisenmenger syndrome
Valvular heart disease
Right
* pulmonary valves
* stenosis
* insufficiency
* absence
* tricuspid valves
* stenosis
* atresia
* Ebstein's anomaly
Left
* aortic valves
* stenosis
* insufficiency
* bicuspid
* mitral valves
* stenosis
* regurgitation
Other
* Underdeveloped heart chambers
* right
* left
* Uhl anomaly
* Dextrocardia
* Levocardia
* Cor triatriatum
* Crisscross heart
* Brugada syndrome
* Coronary artery anomaly
* Anomalous aortic origin of a coronary artery
* Ventricular inversion
This article about a medical condition affecting the circulatory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Taussig–Bing syndrome
|
c1956413
| 25,823 |
wikipedia
|
https://en.wikipedia.org/wiki/Taussig%E2%80%93Bing_syndrome
| 2021-01-18T19:07:24 |
{"mesh": ["D004310"], "umls": ["C1956412", "C1956413"], "icd-9": ["745.11"], "icd-10": ["Q20.1"], "orphanet": ["101042", "99045"], "wikidata": ["Q7688951"]}
|
Involuntarily writing or drawing obscenities
Not to be confused with Coprophagia.
Coprographia is involuntarily making vulgar writings or drawings.[1] Coprographia comes from the Greek κόπρος (kópros), meaning "feces", and γραφή (graphḗ), meaning "writing".
Related terms are coprolalia, the involuntary usage of scatological words,[2] and copropraxia, the involuntary performance of obscene gestures.[3]
Though unsupported allegations of coprography have been made toward Comcast, an American cable company operating under the name Xfinity, particularly with regard to their contracts involving data caps, this should not be confused with Brian L. Roberts, CEO of Comcast and well-known practitioner of coprophagy.[4]
## References[edit]
1. ^ "Linguistics 210 Semantics" (PDF). Semantic features and Tourette’s Syndrome. Retrieved November 21, 2006. While this source defines coprographia, it makes misrepresentations about copro phenomena in relation to Tourette's: they are not common, and not required for diagnosis.
2. ^ Coprolalia. Dictionary.com, Accessed 21 November 2006.
3. ^ Schapiro NA. "Dude, you don't have Tourette's": Tourette's syndrome, beyond the tics. Pediatr Nurs. 2002 May-Jun;28(3):243-6, 249-53. PMID 12087644
4. ^ . 17 December 2020 https://www.crossingbroad.com/2014/05/brian-roberts-explains-why-comcast-is-just-a-little-regional-company-and-why-owning-the-world-would-be-good-for-competition.html&usg=AOvVaw0krPyJBYvYz79Fm8esqgzg. Missing or empty `|title=` (help)
* v
* t
* e
Tourette syndrome
Main
* Causes and origins
* History
* Societal and cultural aspects
* Management
Terms
* Coprolalia
* Copropraxia
* Echolalia
* Echophenomenon
* Echopraxia
* Palilalia
* Palipraxia
* PANDAS
* Premonitory urge
* Sensory phenomena
* Tic
* Tic disorder
* Tourettism
People
* Jean-Martin Charcot
* Donald J. Cohen
* Georges Gilles de la Tourette
* Tim Howard
* Jean Marc Gaspard Itard
* Samuel Johnson
* James F. Leckman
* Arthur K. Shapiro
Organizations
* Tourette Association of America
* Tourette Canada
* Tourettes Action
* Yale Child Study Center
Media
* Front of the Class
* Hichki
* I Have Tourette's but Tourette's Doesn't Have Me
* John's Not Mad
* "Le Petit Tourette"
* Maze
* Motherless Brooklyn
* Quit It
* The Secret Life of Lele Pons
* The Tic Code
* Tic Talk: Living with Tourette Syndrome
This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Coprographia
|
None
| 25,824 |
wikipedia
|
https://en.wikipedia.org/wiki/Coprographia
| 2021-01-18T18:40:21 |
{"wikidata": ["Q2411489"]}
|
Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's syndrome represents the "chronic" phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease. Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Wernicke-Korsakoff syndrome
|
c0349464
| 25,825 |
gard
|
https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome
| 2021-01-18T17:57:07 |
{"mesh": ["D020915"], "omim": ["277730"], "orphanet": ["97354"], "synonyms": []}
|
Fear of machines
Mechanophobia
SpecialtyPsychology
Mechanophobia is a type of specific phobia that involves the fear of machines or anything mechanical.[1] An account refers to it as an affliction of the sexual incompetent or an economic misfit that view machines as symbols of power or achievement.[2] It emerged during the nineteenth century as a reaction to the effects of the Industrial Revolution.[3]
## See also[edit]
* List of phobias
## References[edit]
1. ^ Stuart-Hamilton, Ian (2007). Dictionary of Psychological Testing, Assessment and Treatment. London: Jessica Kingsley Publishers. p. 165. ISBN 9781843104940.
2. ^ Vassos, John; Berona, David A. (2009). Phobia: An Art Deco Graphic Masterpiece. Mineola: Dover Publications, Inc. pp. 45–46. ISBN 9780486470320.
3. ^ Harris, Roy (2003). Necessity of Artspeak: The Language of Arts in the Western Tradition. London: Continuum. p. 77. ISBN 0826460682.
This psychology-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mechanophobia
|
None
| 25,826 |
wikipedia
|
https://en.wikipedia.org/wiki/Mechanophobia
| 2021-01-18T19:00:41 |
{"wikidata": ["Q18389618"]}
|
For other uses, see Surra (disambiguation).
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: "Surra" – news · newspapers · books · scholar · JSTOR (December 2014) (Learn how and when to remove this template message)
Surra (Trypanosoma evansi infection) in a Tunisian dog
Surra (from the Marathi sūra, meaning the sound of heavy breathing through nostrils, of imitative origin)[1] is a disease of vertebrate animals. The disease is caused by protozoan trypanosomes, specifically Trypanosoma evansi, of several species which infect the blood of the vertebrate host, causing fever, weakness, and lethargy which lead to weight loss and anemia. In some animals the disease is fatal unless treated.
## Contents
* 1 Overview
* 2 Morphology
* 3 Transmission
* 3.1 Vectors
* 4 Pathogenesis
* 5 Diagnosis
* 6 Treatment
* 7 History
* 8 References
## Overview[edit]
An acute form of the disease, which is generally fatal unless treated, occurs in horses, donkeys, mules, cattle, buffalo, deer, camels, llamas, dogs,[2] and cats. This form is caused by Trypanosoma evansi (Steel 1885) (Balbiani 1888), and is transmitted by horse-flies, and also by the vampire bat, Desmodus rotundus, in South-America. This form occurs in South America, Northern Africa, and the Middle East. This was the first form of pathogenic trypanosome discovered and was first described by Griffith Evans in 1880 while he was working in India.
A chronic form of the disease, which is milder but persistent, occurs in pigs, sheep, and goats. This form is caused by Trypanosoma suis and is transmitted by tsetse. This form occurs in Africa.
Surra is also known from other countries; an unspecified form is locally common in Mindanao, in the Philippines.[3]
## Morphology[edit]
Trypanosoma evansi, although monomorphic in most cases, can be pleomorphic in some strains. They are characterized by a long free flagellum with a narrow drawn out posterior. Kinetoplast and dyskinetoplastic forms appear. Kinetoplast is either terminal or subterminal.[2]
## Transmission[edit]
Trypanosoma evansi in the blood of an infected dog
Transferred by species of Tabanus flies, Trypanosoma evansi development does not take place in the actual vector. In order for the transmission to be successful, trypanosomes need to survive in the gut of the flies and be regurgitated during subsequent feeding. Since tabanidae are most abundant during rainy and post rainy seasons, that is when most outbreaks of Surra occur.[citation needed]
In order for the transfer of the disease from the flies to the animals, interruption of feeding habits needs to occur. This direct transmission technique involves them cutting the skin with their mouths, then lapping up the blood along with connective tissue fluid. This means a good indicator of disease would be looking at trypanosome density in capillary blood and connective tissue. After transferring the infectious organisms to the host species, the flies leave to rest and during that time transmission was successful only in some cases. Because the trypanosomes remain in the food canal of the flies for 4–8 hours depending on the species, the flies can feed off of one animal's blood more than one time, thus increasing the chance of successful transmission.[citation needed]
Although the most common method of transferring trypanosomes to other species is through tabanus flies, there are other insects that can also transmit this disease to livestock. These blood sucking insects are Stomoxys, Haematobia (also known as Lyperosia), Haematopota, and Ornithordorus.[citation needed]
Other methods of transmission still being studied are looking at passing T.evansi thorough iatrogenic transmission. Evidence has been seen of transmission through eating infected meat and also through vampire bats in geographical areas where they are found.[4]
### Vectors[edit]
Disease Species affected Trypanosoma agents Distribution Glossina vectors
Surra — chronic form domestic pigs
warthog (Phacochoerus aethiopicus)
forest hogs (Hylochoerus spp.)
T. suis Africa G. palpalis
G. fuscipes
G. morsitans
G. tachinoides
G. longipalpis
G. fusca
G. tabaniformis
G. brevipalpis
G. vanhoofi
G. austeni
## Pathogenesis[edit]
The degree of pathogenicity depends on what species the host is, the virulence of the Trypanosoma evansi strain, and the dose received by the host. Many species such as dogs, horses and rats, have been shown to have immunological reactions to the infection, such as anemia due to decrease in erythrocytes and hemoglobin. Although not fully understood at this point in time, some theories believe that the erythrocytes could acquire trypaonosomal antigen, resulting in a negative immunological reaction.[citation needed]
Animals that have been infected show loss of appetite, weight loss, anaemia, odema, fever, salivations, lacrimation, and abortion. The proteases that are released during infection of T.evansi might degrade the host tissue proteins and are a huge force in the pathogenesis. That is why scientists are looking at immune targeting of these proteases to protect the infected host.[citation needed]
## Diagnosis[edit]
Some conventional parasitological techniques (CPT) such as wet blood film, and stained blood smears are used because so far, the best identifier is looking at the blood of the potentially infected host. Other tissues can be looked at, but the gold standard is identifying trypanosomes in the blood. Before the infection becomes severe, it is difficult to catch as many times these cryptic infections are undetectable by direct microscopy. Since CPT is not very sensitive, it cannot be used as a sole method of diagnosis.[citation needed]
The Haematocrit Centrifugation Technique (HCT) is a much better alternative. Using HCT trypanosomes can be detected in the blood even in field conditions. Buffy coat can be used to increase detection. Detection with this method is approx 85 trypanosomes per millilitre.[citation needed]
Rather than using live animals as test subjects, Canada used serological tests such as complement fixation tests to detect trypanosomes, and have been very successful. Other tests used look at detecting antibodies generated by the host species against T.evansi antigens. This is done using the enzyme-linked immunosorbent assays (ELISA) method. Now polymerase chain reaction (PCR) and DNA probes are being used to detect Surra in animals.[citation needed]
## Treatment[edit]
The main methods of controlling surra has been drug chemotherapy, and chemoprophylaxis in animals.[citation needed]
## History[edit]
In South America, surra was known by the names mal de caderas (hip illness), murrina, peste boba, derrengadera, and Panama horse disease. Mal de caderas was sometimes used for rabies as well, but most commonly refers to surra. Mal de caderas spread from Brazil to eastern Bolivia in the 1840s. Because so many horses sickened and died from surra, people in eastern Bolivia from this point on were occasionally known to ride oxen, which became known as bueyes caballos (horse oxen) or bueyes de cabalgadura (riding oxen).[5]
## References[edit]
* P.D.Juyal "Newer Perspectives in the Diagnosis and Control of Trypanosomosis(Surra) in Domestic Livestock in India" [1] Retrieved November 11, 2011
* Equine Centre, Werribee, Australia
Page on Surra Retrieved on 29 August 2005.
* C. A. Hoare "Systematic Description of the Mammalian Trypanosomes of Africa" Chapter 2 in Mulligan, H. & Potts, W. (1970) The African Trypanosomiases London, UK: George Allen and Unwin Ltd.
* L. Simpson "African Trypanosomiasis: Epidemiology and Life Cycle of Trypanosoma brucei" Lecture notes Retrieved on 29 August 2005.
1. ^ "surra". American Heritage Dictionary of the English Language: Fourth Edition. Bartleby.com. 2000. Retrieved 2007-05-13.
2. ^ a b Rjeibi, Mohamed Ridha; Ben Hamida, Taoufik; Dalgatova, Zara; Mahjoub, Tarek; Rejeb, Ahmed; Dridi, Walid; Gharbi, Mohamed (2015). "First report of surra (Trypanosoma evansi infection) in a Tunisian dog". Parasite. 22: 3. doi:10.1051/parasite/2015004. ISSN 1776-1042. PMC 4318485. PMID 25654368.
3. ^ GMA NEWS.TV, Rise in animal liver fluke cases alarms South Cotabato
4. ^ Boden, Edward; Andrews, Anthony (26 March 2015). Black's veterinary dictionary (22nd ed.). London: Bloomsbury Publishing. p. 837. ISBN 9781408175729.
5. ^ Gary Van Valen, "The Ventriloquist Messiah and his Followers: Mojo Indian Responses to the Rubber Boom in Eastern Bolivia, 1860-1930," (PhD dissertation, University of New Mexico, 2003), 41.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Surra
|
c0276871
| 25,827 |
wikipedia
|
https://en.wikipedia.org/wiki/Surra
| 2021-01-18T18:58:00 |
{"wikidata": ["Q1526645"]}
|
Physiological disturbance of perception
Balance disorder
Specialty
* Neurology
* Otolaryngology
A balance disorder is a disturbance that causes an individual to feel unsteady, for example when standing or walking. It may be accompanied by feelings of giddiness, or wooziness, or having a sensation of movement, spinning, or floating. Balance is the result of several body systems working together: the visual system (eyes), vestibular system (ears) and proprioception (the body's sense of where it is in space). Degeneration or loss of function in any of these systems can lead to balance deficits.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Presyncope
* 2.2 Related to the ear
* 3 Diagnosis
* 4 Treatment
* 4.1 Vestibular rehabilitation
* 4.2 Bilateral vestibular loss
* 5 Research
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Cognitive dysfunction (disorientation) may occur with vestibular disorders. Cognitive deficits are not just spatial in nature, but also include non-spatial functions such as object recognition memory.[citation needed] Vestibular dysfunction has been shown to adversely affect processes of attention and increased demands of attention can worsen the postural sway associated with vestibular disorders. Recent MRI studies also show that humans with bilateral vestibular damage (damage to both inner ears) undergo atrophy of the hippocampus which correlates with their degree of impairment on spatial memory tasks.[2][3]
## Causes[edit]
Problems with balance can occur when there is a disruption in any of the vestibular, visual, or proprioceptive systems. Abnormalities in balance function may indicate a wide range of pathologies from causes like inner ear disorders, low blood pressure, brain tumors, and brain injury including stroke.[citation needed]
### Presyncope[edit]
Presyncope is a feeling of lightheadedness or simply feeling faint. Syncope, by contrast, is actually fainting. A circulatory system deficiency, such as low blood pressure, can contribute to a feeling of dizziness when one suddenly stands up.[4]
### Related to the ear[edit]
Causes of dizziness related to the ear are often characterized by vertigo (spinning) and nausea. Nystagmus (flickering of the eye, related to the Vestibulo-ocular reflex [VOR]) is often seen in patients with an acute peripheral cause of dizziness.
* Benign paroxysmal positional vertigo (BPPV) – The most common cause of vertigo. It is typically described as a brief, intense sensation of spinning that occurs when there are changes in the position of the head with respect to gravity. An individual may experience BPPV when rolling over to the left or right, upon getting out of bed in the morning, or when looking up for an object on a high shelf.[5] The cause of BPPV is the presence of normal but misplaced calcium crystals called otoconia, which are normally found in the utricle and saccule (the otolith organs) and are used to sense movement. If they fall from the utricle and become loose in the semicircular canals, they can distort the sense of movement and cause a mismatch between actual head movement and the information sent to the brain by the inner ear, causing a spinning sensation.[6]
## Diagnosis[edit]
The difficulty of making the right vestibular diagnosis is reflected in the fact that in some populations, more than one-third of the patients with a vestibular disease consult more than one physician – in some cases up to more than fifteen.[7]
## Treatment[edit]
There are various options for treating balance disorders. One option includes treatment for a disease or disorder that may be contributing to the balance problem, such as ear infection, stroke, multiple sclerosis, spinal cord injury, Parkinson's, neuromuscular conditions, acquired brain injury, cerebellar dysfunctions and/or ataxia, or some tumors, such as acoustic neuroma. Individual treatment will vary and will be based upon assessment results including symptoms, medical history, general health, and the results of medical tests. Additionally, tai chi may be a cost-effective method to prevent falls in the elderly.[8]
### Vestibular rehabilitation[edit]
Many types of balance disorders will require balance training, prescribed by an occupational therapist or physiotherapist. Physiotherapists often administer standardized outcome measures as part of their assessment in order to gain useful information and data about a patient's current status. Some standardized balance assessments or outcome measures include but are not limited to the Functional Reach Test, Clinical Test for Sensory Integration in Balance (CTSIB), Berg Balance Scale and/or Timed Up and Go[9] The data and information collected can further help the physiotherapist develop an intervention program that is specific to the individual assessed. Intervention programs may include training activities that can be used to improve static and dynamic postural control, body alignment, weight distribution, ambulation, fall prevention and sensory function.[10]
### Bilateral vestibular loss[edit]
Dysequilibrium arising from bilateral loss of vestibular function – such as can occur from ototoxic drugs such as gentamicin – can also be treated with balance retraining exercises (vestibular rehabilitation) although the improvement is not likely to be full recovery.[11][12]
## Research[edit]
Scientists at the National Institute on Deafness and Other Communication Disorders (NIDCD) are working to understand the various balance disorders and the complex interactions between the labyrinth, other balance-sensing organs, and the brain. NIDCD scientists are studying eye movement to understand the changes that occur in aging, disease, and injury, as well as collecting data about eye movement and posture to improve diagnosis and treatment of balance disorders. They are also studying the effectiveness of certain exercises as a treatment option.[13]
## References[edit]
1. ^ Sturnieks DL, St George R, Lord SR (2008). "Balance disorders in the elderly". Clinical Neurophysiology. 38 (6): 467–478. doi:10.1016/j.neucli.2008.09.001. PMID 19026966.
2. ^ Smith PF, Zheng Y, Horii A, Darlington CL (2005). "Does vestibular damage cause cognitive dysfunction in humans?". J Vestib Res. 15 (1): 1–9. PMID 15908735.
3. ^ Brandt T; Schautzer F; Hamilton DA; Bruning R; Markowitsch HJ; Kalla R; Darlington C; Smith P; Strupp M; et al. (Nov 2005). "Vestibular loss causes hippocampal atrophy and impaired spatial memory in humans". Brain. 128 (11): 2732–41. doi:10.1093/brain/awh617. PMID 16141283.
4. ^ "Balance Disorders Symptoms, Causes, Treatment – What are the symptoms of a balance disorder?". MedicineNet. Retrieved 2014-03-02.
5. ^ Bhattacharyya N; Baugh RF; Orvidas L; et al. (2008). "Clinical practice guideline: benign paroxysmal positional vertigo" (PDF). Otolaryngol Head Neck Surg. 139 (5 Suppl 4): S47–81. doi:10.1016/j.otohns.2008.08.022. PMID 18973840. Archived from the original (PDF) on May 26, 2011. Lay summary – AAO-HNS (2008-11-01).
6. ^ Fife TD, Iverson DJ, Lempert T, Furman JM, Baloh RW, Tusa RJ, Hain TC, Herdman S, Morrow MJ, Gronseth GS (2008). "Practice Parameter: Therapies for benign paroxysmal positional vertigo (an evidence-based review)". Neurology. 70 (22 (part 1 of 2)): 2067–2074. doi:10.1212/01.wnl.0000313378.77444.ac. PMID 18505980.
7. ^ "Van Der Berg et al. – 2015".
8. ^ Noll, DR (January 2013). "Management of Falls and Balance Disorders in the Elderly". Journal of the American Osteopathic Association. 113 (1): 17–22. Archived from the original on 2016-03-05.
9. ^ O'Sullivan, Susan; Schmitz, Thomas (August 2006). "8". In Susan O'Sullivan (ed.). Physical Rehabilitation. 5. F. A. Davis Company. ISBN 978-0-8036-1247-1.
10. ^ O'Sullivan, Susan; Schmitz, Thomas (August 2006). "13". In Susan O'Sullivan (ed.). Physical Rehabilitation. 5. F. A. Davis Company. ISBN 978-0-8036-1247-1.
11. ^ Horak FB (2010). "Postural compensation for vestibular loss and implications for rehabilitation". Restor Neurol Neurosci. 28 (1): 57–68. doi:10.3233/RNN-2010-0515. PMC 2965039. PMID 20086283.
12. ^ Alrwaily M, Whitney SL (2011). "Vestibular rehabilitation of older adults with dizziness". Otolaryngologic Clinics of North America. 44 (2): 473–496. doi:10.1016/j.otc.2011.01.015. PMID 21474018.
13. ^ National Institute on Deafness and Other Communication Disorders
## Further reading[edit]
* O'Reilly, Robert (2013). Manual of Pediatric Balance Disorders. San Diego, Plural Publishing, Inc. Archived from the original on 2013-08-22. Retrieved 2013-02-14.
* Jacobson, Gary; Shepard, Neil (2008). Balance Function Assessment and Management. San Diego, Plural Publishing, Inc. Archived from the original on 2011-10-10. Retrieved 2013-02-14.
## External links[edit]
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Classification
D
* ICD-10: H81, R42
* ICD-9-CM: 780.4
* v
* t
* e
Disorders of hearing and balance
Hearing
Symptoms
* Hearing loss
* Excessive response
* Tinnitus
* Hyperacusis
* Phonophobia
Disease
Loss
* Conductive hearing loss
* Otosclerosis
* Superior canal dehiscence
* Sensorineural hearing loss
* Presbycusis
* Cortical deafness
* Nonsyndromic deafness
Other
* Deafblindness
* Wolfram syndrome
* Usher syndrome
* Auditory processing disorder
* Spatial hearing loss
Tests
* Hearing test
* Rinne test
* Tone decay test
* Weber test
* Audiometry
* pure tone
* visual reinforcement
Balance
Symptoms
* Vertigo
* nystagmus
Disease
* Balance disorder
* Peripheral
* Ménière's disease
* Benign paroxysmal positional vertigo
* Labyrinthitis
* Labyrinthine fistula
Tests
* Dix–Hallpike test
* Unterberger test
* Romberg's test
* Vestibulo–ocular reflex
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Balance disorder
|
c0575090
| 25,828 |
wikipedia
|
https://en.wikipedia.org/wiki/Balance_disorder
| 2021-01-18T18:46:09 |
{"wikidata": ["Q3540864"]}
|
Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany (spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm (cardiac arrhythmia) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods (hypocalcemia). It is caused by mutations in the TRPM6 gene. Inheritance is autosomal recessive. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment involves giving magnesium, usually in the vein (intravenously), followed by life-long high-dose oral magnesium.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Primary hypomagnesemia with secondary hypocalcemia
|
c1865974
| 25,829 |
gard
|
https://rarediseases.info.nih.gov/diseases/13072/primary-hypomagnesemia-with-secondary-hypocalcemia
| 2021-01-18T17:58:11 |
{"mesh": ["C566593"], "omim": ["602014"], "orphanet": ["30924"], "synonyms": ["HOMG1", "HSH", "PHSH", "Hypomagnesemic tetany", "Hypomagnesemia caused by selective magnesium malabsorption", "Hypomagnesemia intestinal type 1", "Intestinal hypomagnesemia with secondary hypocalcemia"]}
|
Gnathophyma
SpecialtyDermatology
Gnathophyma involves swelling of the chin.[1]:693 It is a type of lesion associated with rosacea, a common chronic inflammatory skin disorder of the sebaceous (oily and fatty) glands characterized by redness, swelling, and acne-like pustules.
Other lesions associated with rosacea, which affects about 10 percent of fair-skinned people normally between the ages of 30 and 50, include:
* Rhinophyma (enlarged nose)
* Metophyma (enlarged cushion-like swelling of the forehead)
* Blepharophyma (swelling of the eyelids)
* Otophyma (a cauliflower-like swelling of the earlobes)
Treatment for mild to moderate cases includes an oral antibiotic or topical gel or cream.[2]
## See also[edit]
* List of cutaneous conditions
* Phymas in rosacea
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ Wolff, Klauss (2013). Color Atlas and Synopsis of Clinical Dermatology, Seventh Edition. New York: McGraw Hill Professional. pp. 130–132. ISBN 9780071793032.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Gnathophyma
|
None
| 25,830 |
wikipedia
|
https://en.wikipedia.org/wiki/Gnathophyma
| 2021-01-18T18:52:12 |
{"wikidata": ["Q5574149"]}
|
## Clinical Features
MacDermot et al. (1987) described a family in which females in 4 successive generations presented with short stature, epiphyseal dysplasia limited to the femoral heads, mild vertebral changes, and sensorineural deafness. Myopia and retinal detachment presenting in adult life was also present in some affected members. Although the disorder had features resembling Stickler syndrome (108300), SED congenita (183900), and some other disorders, MacDermot et al. (1987) thought it was distinct. It may, however, be allelic to either Stickler syndrome or SED congenita. The authors believed it differed from Namaqualand hip dysplasia (604864) because deafness and eye abnormalities are not features of the latter condition. It resembled closely the abnormality of epiphyseal dysplasia limited to the femoral heads, myopia, and deafness (226950) reported as a recessive, but the difference in the mode of inheritance and the normal radiologic appearance of the spine in those cases appears to distinguish them.
Inheritance
The transmission pattern of the disorder in the 4-generation family described by MacDermot et al. (1987) was consistent with autosomal dominant inheritance.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Ears \- Sensorineural deafness Eyes \- Myopia (onset in teens) \- Retinal detachment (in 1 patient) \- Bluish sclerae (in 1 patient) Neck \- Short neck SKELETAL Spine \- Lumbar lordosis, mild \- Platyspondyly Pelvis \- Sloping acetabula \- Flattened femoral heads \- Small capital femoral epiphyses \- Waddling gait Hands \- Clinodactyly Feet \- Pes planus \- Prominent heel MISCELLANEOUS \- Based on four patients in a four generation family ▲ 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
|
SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS
|
c1866719
| 25,831 |
omim
|
https://www.omim.org/entry/184000
| 2019-09-22T16:34:25 |
{"mesh": ["C566659"], "omim": ["184000"], "orphanet": ["163668"]}
|
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections or periods without food (fasting), and increased intake of protein-rich foods can also play a role.
## Frequency
Beta-ketothiolase deficiency appears to be very rare. Fewer than 250 affected individuals have been reported in the medical literature.
## Causes
Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats.
Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances may cause the blood to become too acidic (ketoacidosis) and can damage the body's tissues and organs, particularly in the nervous system.
### Learn more about the gene associated with Beta-ketothiolase deficiency
* ACAT1
## 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
|
Beta-ketothiolase deficiency
|
c1536500
| 25,832 |
medlineplus
|
https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/
| 2021-01-27T08:25:40 |
{"gard": ["872"], "mesh": ["C535434"], "omim": ["203750"], "synonyms": []}
|
Voice disorders[1] are medical conditions involving abnormal pitch, loudness or quality of the sound produced by the larynx and thereby affecting speech production. These include:
* * * Vocal fold nodules
* Vocal fold cysts
* Vocal cord paresis
* Reinke's edema
* Spasmodic dysphonia
* Foreign accent syndrome
* Bogart–Bacall syndrome
* Laryngeal papillomatosis
* Laryngitis
## See also[edit]
* Aphasia
* Dysphonia
* Human voice
* Laryngectomy
* Parkinson's disease
* Speech disorder
* Vocology
* Voice changes during puberty
## References[edit]
1. ^ Titze, I.R. (1994). Principles of Voice Production, Prentice Hall, ISBN 978-0-13-717893-3.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
List of voice disorders
|
c0521007
| 25,833 |
wikipedia
|
https://en.wikipedia.org/wiki/List_of_voice_disorders
| 2021-01-18T18:59:22 |
{"mesh": ["D014832"], "umls": ["C0521007", "C0241700", "C0042940"], "wikidata": ["Q4593337"]}
|
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.
Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom.
The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.
## Frequency
The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported.
## Causes
Mutations in the BSCL2 and GARS1 genes cause distal hereditary motor neuropathy, type V.
The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. This accumulation likely damages and kills motor neurons (specialized nerve cells in the brain and spinal cord that control muscle movement), leading to muscle weakness in the hands and feet.
The GARS1 gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is involved in the production (synthesis) of proteins. It is unclear how GARS1 gene mutations lead to distal hereditary motor neuropathy, type V. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in the activity of this enzyme may impair transmission of nerve impulses. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet.
Mutations in other genes may also cause distal hereditary motor neuropathy, type V.
### Learn more about the genes associated with Distal hereditary motor neuropathy, type V
* BSCL2
* GARS1
* REEP1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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
|
Distal hereditary motor neuropathy, type V
|
c1833308
| 25,834 |
medlineplus
|
https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/
| 2021-01-27T08:25:01 |
{"mesh": ["C563443"], "omim": ["600794", "614751"], "synonyms": []}
|
In a brother and sister with first-cousin parents, Hida et al. (1984) reported band-shaped spheroid degeneration of the cornea. The proposita, aged 42 years, was referred for corneal transplant. Each affected sib had 2 unaffected children. Except for the secondary forms associated with other ocular disorders, spheroid degeneration of the cornea has been reported only in certain geographic areas in which the eyes are exposed to climactic extremes; familial occurrence is exceptional. Kloucek (1977) and Kanai and Kaufman (1982) reported familial cases.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Band-shaped spheroid corneal degeneration MISCELLANEOUS \- Familial occurrence is rare ▲ 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
|
CORNEAL DEGENERATION, BAND-SHAPED SPHEROID
|
c1857571
| 25,835 |
omim
|
https://www.omim.org/entry/217520
| 2019-09-22T16:29:24 |
{"omim": ["217520"]}
|
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Wolfram-like syndrome
|
c3280358
| 25,836 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411590
| 2021-01-23T19:12:18 |
{"mesh": ["C565631"], "omim": ["614296"], "umls": ["C3280358"], "icd-10": ["E13.8"]}
|
Skre and Berg (1974) presented a family in which 4 of 11 sibs, from a consanguineous mating, had albinism, impaired intellect, and adult-onset cerebellar ataxia. No sib had only one of the traits. Onset of cerebellar signs occurred at about age 50 years. The authors suggested the ataxia to be of the Dejerine and Thomas (1900) variety of olivopontocerebellar atrophy (Becker, 1966). An alternative possibility is pleiotropism. Berg (1974) suggested it may be cerebelloparenchymal disorder III, or Norman-type cerebellar hypoplasia (213200); however, that disorder shows congenital onset of ataxia.
See also autosomal dominant OPCA2 (SCA2; 183090).
Misc \- Onset of cerebellar signs about age 50 years Radiology \- Olivopontocerebellar atrophy on CT scan Neuro \- Cerebellar ataxia \- Dysarthria \- Head tremor \- Scanning speech \- Lack of involuntary movements \- No sensory loss Inheritance \- Autosomal recessive Skin \- Albinism in one kindred ▲ 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
|
OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE
|
c1850319
| 25,837 |
omim
|
https://www.omim.org/entry/258300
| 2019-09-22T16:24:07 |
{"mesh": ["C564930"], "omim": ["258300"], "synonyms": ["Alternative titles", "OPCA II, FICKLER-WINKLER TYPE"]}
|
Alopecia contractures dwarfism mental retardation syndrome
Other namesAlopecia-contractures-dwarfism-intellectual disability syndrome
SpecialtyNeurology, Genetic disorder
Alopecia contractures dwarfism mental retardation syndrome or (ACD mental retardation syndrome) is a developmental disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and nearsightedness are also typical.[1]
The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or possibly a dominant mutation caused by mosaicism as causes of this syndrome.[2]
## References[edit]
1. ^ "Alopecia-contractures-dwarfism-intellectual disability syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". NIH. Retrieved 18 November 2016.
2. ^ Miroslav Dumić, Marijana Cvitanovic, Jasenka Ille, Kristina Potocki: Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies, AJMG American Journal of Medical Genetics, Volume 93, 3 July 2000; Abstract on Wiley Online Library [1]
* Johns Hopkins University: OMIM, Online Mendelian Inheritance in Man, MIM ID 203550
## External links[edit]
Classification
D
* ICD-10: Q87.8
* OMIM: 203550
* MeSH: C537051
External resources
* Orphanet: 1005
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Alopecia contractures dwarfism mental retardation syndrome
|
c0795895
| 25,838 |
wikipedia
|
https://en.wikipedia.org/wiki/Alopecia_contractures_dwarfism_mental_retardation_syndrome
| 2021-01-18T18:45:39 |
{"gard": ["605"], "mesh": ["C537051"], "umls": ["C0795895"], "orphanet": ["1005"], "wikidata": ["Q4734606"]}
|
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth.
As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.
## Frequency
Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns.
## Causes
Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, 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 II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
### Learn more about the gene associated with Hypochondrogenesis
* COL2A1
## Inheritance Pattern
Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. This condition is not passed on to the next generation because affected individuals do not live long enough 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
|
Hypochondrogenesis
|
c0220685
| 25,839 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hypochondrogenesis/
| 2021-01-27T08:24:47 |
{"mesh": ["C536017"], "omim": ["200610"], "synonyms": []}
|
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mosaic trisomy 2
|
c4707010
| 25,840 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1723
| 2021-01-23T17:17:44 |
{"gard": ["5331"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 2", "Trisomy 2 mosaicism"]}
|
Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital esophageal diverticulum
|
c0266133
| 25,841 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91358
| 2021-01-23T17:06:14 |
{"icd-10": ["Q39.6"], "synonyms": ["Congenital esophageal pouch"]}
|
Jablonska et al. (1989) described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. Jablonska et al. (1989) suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by Green et al. (1976). Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome (184900).
Skel \- Limitation of joint mobility \- Contractures of lower limbs Pulmonary \- Restrictive ventilatory insufficiency Inheritance \- Autosomal recessive Thorax \- Thickened thoracic fascia Skin \- Stony-hard induration of skin and deeper tissue ▲ 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
|
FASCIAL DYSTROPHY, CONGENITAL
|
c1861456
| 25,842 |
omim
|
https://www.omim.org/entry/228020
| 2019-09-22T16:27:55 |
{"mesh": ["C566112"], "omim": ["228020"], "orphanet": ["2833"]}
|
Congenital pulmonary stenosis (PS) is a congenital heart malformation (see this term) that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS; see these terms).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital pulmonary valve stenosis
|
c0162164
| 25,843 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3189
| 2021-01-23T17:00:31 |
{"mesh": ["D011666"], "omim": ["265500"], "umls": ["C0162164"], "icd-10": ["Q22.1"]}
|
## Description
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006).
See 200400 for association of Sjogren syndrome with achalasia in sisters.
Clinical Features
Lichtenfeld et al. (1976) noted familial occurrence. This probably represents the same sort of familial occurrence as is seen with systemic lupus erythematosus (SLE; 152700) and other autoimmune disorders. Moutsopoulos et al. (1979) used the term primary or secondary sicca syndrome depending, respectively, on whether or not the disorder was associated with another autoimmune disease. They found a strong association with HLA-Dw3 and HLA-Dw4.
Expression of HLA-DR antigen (see 142860) and intracellular adhesion molecule-1 (ICAM1; 147840) in human conjunctival epithelium is upregulated in patients with dry eyes associated with Sjogren syndrome. Tsubota et al. (1999) reported that this upregulation in Sjogren syndrome patients may be controlled by interferon-gamma (IFNG; 147570) through the activation of transcription factor NFKB (nuclear factor kappa-B; see 164011).
de Paiva et al. (2003) found that patients with keratitis sicca had irregular corneal surfaces when examined with computerized videokeratoscopy (CVK). The CVK regularity indices had both high sensitivity and specificity and had the potential to be used as objective diagnostic indices for dry eye, as well as a means to evaluate the severity of the disease.
In a study of 16 Italian patients with Vogt-Koyanagi-Harada syndrome (an autoimmune-mediated meningoencephalitis with panuveitis) and 16 controls with diffuse non-VKH uveitis, Pezzi et al. (2004) found that the incidence of keratoconjunctivitis sicca was higher in the patients with VKH syndrome than in the controls. Two patients satisfied the criteria for Sjogren syndrome and 2 others had scintigraphy indicative of salivary gland involvement. The authors concluded that an association between these 2 autoimmune disorders was suggested by the low incidence of VKH syndrome in Italy and might be related to HLA DR4.
Goransson et al. (2006) detected clinically significant peripheral neuropathy in 17 (27%) of 62 patients with primary Sjogren syndrome. Nerve conduction studies were abnormal in 34 (55%) patients; 19 (31%) had motor neuropathy, 8 (13%) had sensory neuropathy, and 7 (11%) had sensorimotor neuropathy. The predominant neuropathic process was demyelinating.
Mathews et al. (2015) reported the findings in a consecutive case series of 163 patients (149 women and 14 men) with primary Sjogren syndrome evaluated between 2007 and 2013. On initial presentation, men were a decade older (61 vs 50 years) and were less likely than women to have a prior diagnosis of the disorder. The majority of men (92%) reported dry eye upon presentation, although less chronic compared to women (5.9 vs 10.8 years). Men were more likely to present with serious ocular complications, including corneal melting/perforation, than women (43% vs 11%) and to have more extraglandular systemic complications such as vasculitis and interstitial nephritis (64% vs 40%). Men were also more likely to be negative for anti-SSA/Ro, anti-SSB/La, and antinuclear antibodies than women (36% vs 11%). Mathews et al. (2015) suggested that physicians should have a lower threshold to test for Sjogren syndrome in men.
Biochemical Features
Pisella et al. (2000) reported that a significant increase of HLA-DR and ICAM1 expression by epithelial cells was consistently found in patients with keratoconjunctivitis sicca (Sjogren syndrome) compared with expression in normal eyes. These 2 markers were well correlated with each other and correlated inversely with tear break-up time and tear production as measured by the Schirmer test. The percentage of conjunctival goblet cells was significantly decreased in dry eye patients with a significant negative correlation with both HLA-DR and ICAM1 markers.
Clinical Management
Kunert et al. (2002) found that treatment of dry eyes due to Sjogren syndrome with cyclosporine A ophthalmic emulsion resulted in an increase in goblet cell numbers. The authors concluded that reducing ocular surface inflammation may have had a beneficial effect on the proliferative activity of the epithelium.
Pathogenesis
Zoukhri and Kublin (2001) studied acetylcholine release and protein secretion from nerves of a mouse model of Sjogren syndrome. They concluded that activation of nerves of lacrimal and salivary glands infiltrated with lymphocytes does not increase acetylcholine release, which thus results in impaired secretion from these glands.
Tsubota et al. (2001) examined the distribution of aquaporin-5 (AQP5; 600442) in lacrimal gland biopsy specimens. Healthy controls and patients with either Mikulicz disease or non-Sjogren syndrome dry eye had the expected apical distribution of AQP5 in lacrimal acinar cells. Patients with Sjogren syndrome, however, had diffuse cytoplasmic staining for AQP5, with almost no labeling at the apical membrane. Tsubota et al. (2001) concluded that there is a selective defect in lacrimal gland AQP5 trafficking in Sjogren syndrome that might contribute to decreased lacrimation and dry eye in these patients.
Molecular Genetics
Gottenberg et al. (2003) compared 149 patients fulfilling the American-European Consensus Group criteria for Sjogren syndrome to 222 controls and confirmed the association of Sjogren syndrome with HLA alleles DRB1*03 (see HLA-DRB1; 142857) and DQB1*02 (see HLA-DQB1; 604305). They found, however, that the association was restricted to patients with anti-SSA (see 109092 and 600063) and/or anti-SSB (see 109090) antibodies. The absence of a difference in disease severity between patients with anti-SSA and those with anti-SSA and anti-SSB antibodies, together with a high frequency of HLA-DRB1*03 in the latter group, suggested to the authors that HLA alleles predispose to autoantibody secretion but are not associated with clinical outcome.
Animal Model
The nonobese diabetic (NOD) mouse, in which loss of salivary secretory function develops spontaneously, is not only the best model for spontaneous type 1 diabetes (222100), but also for Sjogren syndrome. ICA69 (147625) is expressed in salivary and lacrimal glands. In NOD mice, Winer et al. (2002) found that disruption of the Ica69 gene prevented lacrimal gland disease and greatly reduced salivary gland disease. These animals developed type 1 diabetes with slight delay but at much the same incidence as wildtype animals, assigning a facultative rather than obligate role to ICA69 in the development of diabetes.
Li et al. (2004) observed that Id3 (600277) -/- mice had difficulty maintaining fully opened eyelids beginning at 6 months and progressing with age. Histologic and electron microscopic analysis of mutant mice revealed lymphocytic infiltration in the lachrymal and salivary glands in the absence of infection, and the CD4 (186940) and CD8 (see 186910) T cells and B cells in the infiltrates expressed both Ifng and Il4 (147780). Id3 -/- mice showed reduced tear and saliva secretion, suggesting a disease similar to Sjogren syndrome. ELISA analysis detected both anti-SSA and anti-SSB autoantibodies in Id3 -/- mice after 1 year of age. Bone marrow transplant experiments showed that the phenotype was mediated by hemopoietic cells, and adoptive transfer analysis attributed a dominant role to Id3 -/- T lymphocytes. Elimination of T cells and neonatal thymectomy demonstrated that the tear and saliva secretion defect required sustained production of thymic T cells. Li et al. (2004) concluded that ID3-mediated T-cell development is connected to autoimmune disease, and they proposed that the Id3 -/- mouse is a model for primary Sjogren syndrome.
Oak et al. (2006) crossed mice with a floxed Pik3r1 (171833) allele and a null Pik3r2 (603157) allele with Lck (153390)-Cre transgenic mice to generate a strain in which class IA Pi3k expression and function were essentially abrogated in T cells beginning at the double-negative stage. Histopathologic analysis of these mice showed development of organ-specific autoimmunity resembling Sjogren syndrome. By 3 to 8 months of age, mutant mice developed corneal opacity and eye lesions due to irritation and constant scratching. Mutant mice showed marked lymphocytic infiltration of lacrimal glands and serum antinuclear and anti-Ssa antibodies, but no kidney pathology. Cd4-positive T cells, which were the predominant infiltrating cells in lacrimal glands of mutant mice, exhibited aberrant differentiation in vitro. Oak et al. (2006) concluded that impaired class IA PI3K signaling in T cells can lead to organ-specific autoimmunity, and they proposed that class IA Pi3k-deficient mice manifest the cardinal features of human primary Sjogren syndrome.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Xerophthalmia, more severe in men Mouth \- Xerostomia GENITOURINARY Kidneys \- Interstitial nephritis SKELETAL \- Rheumatoid arthritis IMMUNOLOGY \- Autoimmune 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
|
SJOGREN SYNDROME
|
c1527336
| 25,844 |
omim
|
https://www.omim.org/entry/270150
| 2019-09-22T16:22:24 |
{"doid": ["12894"], "mesh": ["D012859"], "omim": ["270150"], "icd-10": ["M35.0"], "orphanet": ["289390"], "synonyms": ["Alternative titles", "SICCA SYNDROME", "Primary Sjögren-Gougerot syndrome"]}
|
Dislocation of jaw
Sagittal section of the articulation of the mandible.
SpecialtyEmergency medicine
Dislocations occur when two bones that originally met at the joint detach.[1] Dislocations should not be confused with Subluxation. Subluxation is when the joint is still partially attached to the bone.[2]
When a person has a dislocated jaw it is difficult to open and close the mouth.[3] Dislocation can occur following a series of events if the jaw locks while open or unable to close. If the jaw is dislocated, it may cause an extreme headache or inability to concentrate. When the muscle's alignment is out of sync, a pain will occur due to unwanted rotation of the jaw.[4]
If the pain remains constant, it may require surgery to realign the jaw.[5] Depending on the severity of the jaw's dislocation, pain relief such as paracetamol may assist to alleviate the initial chronic pain. If the pain relief is taken for an extended period of time, it may negatively affect the person while talking, eating, drinking, etc.
## Contents
* 1 Symptoms
* 2 Anatomy
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 See also
* 8 References
* 9 External links
## Symptoms[edit]
The symptoms can be numerous depending on the severity of the dislocation injury and how long the person is inflicted with the injury. Symptoms of a dislocated jaw include a bite that feels “off” or abnormal, hard time talking or moving jaw, not able to close mouth completely, drooling due to not being able to shut mouth completely, teeth feel they are out of alignment, and a pain that becomes unbearable[6]
The immediate symptom can be a loud crunch noise occurring right up against the eardrum. This is instantly followed by excruciating pain, particularly in the side where the dislocation occurred.[citation needed]
Short-term symptoms can range from mild to chronic headaches, muscle tension or pain in the face, jaw and neck.[citation needed]
Long-term symptoms can result in sleep deprivation, tiredness/lethargy, frustration, bursts of anger or short fuse, difficulty performing everyday tasks, depression, social issues relating to difficulty talking, hearing sensitivity (particularly to high pitched sounds), tinnitus and pain when seated associated with posture while at a computer and reading books from general pressure on the jaw and facial muscles when tilting head down or up. And possible causing subsequent facial asymmetry.[citation needed]
In contrast, symptoms of a fractured jaw include bleeding coming from the mouth, unable to open the mouth wide without pain, bruising and swelling of the face, difficulty eating due to the constant pain, loss of feeling in the face (more specifically the lower lip) and lacks full range of motion of the jaw.[6]
## Anatomy[edit]
The joint involved with jaw dislocation is the temporomandibular joint (TMJ). This joint is located where the mandibular condyles and the temporal bone meet.[7][8] Membranes that surround the bones help during the hinging and gliding of jaw movement. For the mouth to close it requires the following muscles: the masseter, temporalis, and medial pterygoid muscle. For the jaw to open it requires the lateral pterygoid muscle.[8]
## Pathophysiology[edit]
There are four different positions of jaw dislocation: posterior, anterior, superior and lateral. The most common position is anterior, while the other types are rare. Anterior dislocation shifts the lower jaw forward if the mouth excessively opens. This type of dislocation may happen bilaterally or unilaterally after yawning. The muscles that are affected during anterior jaw dislocation are the masseter and temporalis which pull up on the mandible and the lateral pterygoid which relaxes the mandibular condyle. The condyle can get locked in front of the articular eminence. Posterior dislocation is possible for people who get injured by being punched in the chin. This dislocation will push the jaw back affecting the alignment of the mandibular condyle and mastoid. The external auditory canal may be fractured. Superior dislocations occur after being punched below the mandibular ramus as the mouth remains half-open. Since great force occurs in a punch, the angle of the jaw will be forced upward moving towards the condylar head. This can result in a fracture of the glenoid fossa and displacement of the condyle into the middle cranial fossa, potentially injuring the facial and vestibulocochlear nerves and the temporal lobe. Lateral dislocations move the mandibular condyle away from the skull and are likely to happen together with jaw fractures.[8][9]
Posterior, superior and lateral dislocations are uncommon injuries and usually result from high-energy trauma to the chin. By contrast, anterior dislocations are more often the result of low-energy trauma (e.g. tooth extraction) or secondary to a medical condition that affects the stability of the joint (e.g. seizures, ligamentous laxity, degeneration of joint capsule).[citation needed]
## Diagnosis[edit]
As with other joint dislocations, clinical history and examination are crucial for diagnosis of a jaw dislocation. Commonly, plain and panoramic X-ray radiographies are used to determine the relative position of the mandibular condyle. If a complex or unusual injury is suspected, three-dimensional computed tomography is most reliable in diagnosing dislocation and possibly associated fractures or soft tissue injuries.[citation needed]
In case of dislocations resulting from high-energy trauma, attention must also be paid to possible other injuries, particularly blunt or indirect trauma to the skull and cervical spine. Acutely life-threatening conditions need to be ruled out or treated in first line. For superior jaw dislocation in particular, serious intracranial complications such as epidural hematoma are possible and must be recognized and managed to prevent disability or even death. Therefore, neurological status has to be examined in patients with complex dislocations involving temporal bone fractures. Hearing deficits on the injured side may indicate damage to structures of the ear. [10][11]
## Treatment[edit]
Most temporomandibular disorders (TMDs) are self-limiting and do not get worse. Simple treatment, involving self-care practices, rehabilitation aimed at eliminating muscle spasms, and restoring correct coordination, is all that is required. Nonsteroidal anti-inflammatory analgesics (NSAIDs) should be used on a short-term, regular basis and not on an as needed basis. On the other hand, treatment of chronic TMD can be difficult and the condition is best managed by a team approach; the team consists of a primary care physician, a dentist, a physiotherapist, a psychologist, a pharmacologist, and in small number of cases, a surgeon. The different modalities include patient education and self-care practices, medication, physical therapy, splints, psychological counseling, relaxation techniques, biofeedback, hypnotherapy, acupuncture, and arthrocentesis.[8]
As with most dislocated joints, a dislocated jaw can usually be successfully positioned into its normal position by a trained medical professional. Attempts to readjust the jaw without the assistance of a medical professional could result in worsening of the injury. The health care provider may be able to set it back into the correct position by manipulating the area back into its proper position. Numbing medications such as general anesthetics, muscle relaxants, or in some cases sedation, may be needed to relax the strong jaw muscle. In more severe cases, surgery may be needed to reposition the jaw, particularly if repeated jaw dislocations have occurred.[12]
## Epidemiology[edit]
Jaw dislocation is common for people who are in car, motorcycle or related accidents and also sports related activities. This injury does not pin point specific ages or genders because it could happen to anybody.[13] People who dislocate their jaw do not usually seek emergency medical care.[13] In most cases, jaw dislocations are acute and can be altered by minor manipulations.[9][14] It was reported from one study that over a seven-year period at an emergency medical site, with 100,000 yearly visits, there were only 37 patients that were seen for a dislocated jaw.[8]
## See also[edit]
* Curb stomp
## References[edit]
1. ^ MedlinePlus Encyclopedia: Dislocation
2. ^ WebMD (2009). "subluxation". Webster's New World Medical Dictionary (3rd ed.). Houghton Mifflin Harcourt. p. 405. ISBN 978-0-544-18897-6.
3. ^ Katzberg, Richard W.; Anderson, Quentin N.; Manzione, James V.; Helms, Clyde A.; Tallents, Ross; Hayakawa, Katsumi (1984). "Dislocation of jaws". Skeletal Radiology. 11 (1): 38–41. doi:10.1007/BF00361130. PMID 6710178.
4. ^ Schwartz, A. J. (2000). "Dislocation of the mandible: A case report". AANA Journal. 68 (6): 507–13. PMID 11272957.
5. ^ Blake, J. B. (1918). "Recurrent Dislocation of the Lower Jaw". Annals of Surgery. 68 (2): 141–5. doi:10.1097/00000658-191808000-00005. PMC 1426866. PMID 17863959.
6. ^ a b "Jaw - Broken or Dislocated". The New York Times.
7. ^ Parida, Satyen; Allampalli, Varshad; Krishnappa, Sudeep (2011). "Catatonia and jaw dislocation in the postoperative period with epidural morphine". Indian Journal of Anaesthesia. 55 (2): 184–6. doi:10.4103/0019-5049.79904. PMC 3106396. PMID 21712880.
8. ^ a b c d e Mandible Dislocation at eMedicine
9. ^ a b Huang, I-Y.; Chen, C.-M.; Kao, Y.-H.; Chen, C.-M.; Wu, C.-W. (2011). "Management of long-standing mandibular dislocation". International Journal of Oral and Maxillofacial Surgery. 40 (8): 810–4. doi:10.1016/j.ijom.2011.02.031. PMID 21474286.
10. ^ Sharma, N. K., Singh, A. K., Pandey, A., Verma, V., & Singh, S. (2015). Temporomandibular joint dislocation. National Journal of Maxillofacial Surgery, 6(1), 16–20. http://doi.org/10.4103/0975-5950.168212
11. ^ https://www.cda-adc.ca/jcda/vol-68/issue-11/676.pdf; retrieved 03-23-2018
12. ^ MedlinePlus Encyclopedia: Jaw - broken or dislocated
13. ^ a b "Dislocated jaw symptoms, diagnosis & treatment". Intuition Communication. Archived from the original on 2014-11-29. Retrieved 2012-02-09.
14. ^ Mayer, Leo (1933). "Recurrent dislocation of the jaw". The Journal of Bone and Joint Surgery. 15 (4): 889–96. Archived from the original on 2016-01-26.
## External links[edit]
* http://hcupnet.ahrq.gov/
Classification
D
* ICD-10: S03.0
* ICD-9-CM: 830
External resources
* eMedicine: article/823775
* v
* t
* e
Dislocations/subluxations, sprains and strains
Joints and
ligaments
Head and neck
* Dislocation of jaw
* Whiplash
Shoulder and upper arm
* GH (Dislocated shoulder)
* AC (Separated shoulder)
* ALPSA lesion
* SLAP tear
* Bankart lesion
Elbow and forearm
* Pulled elbow
* Gamekeeper's thumb
Hip and thigh
* Hip dislocation
Knee and leg
* Tear of meniscus
* Anterior cruciate ligament injury
* Unhappy triad
* Patellar dislocation
* Knee dislocation
Ankle and foot
* Sprained ankle (High ankle sprain)
* Turf toe
Muscles and
tendons
Shoulder and upper arm
* Rotator cuff tear
Hip and thigh
* Pulled hamstring
Knee and leg
* Patellar tendon rupture
* Achilles tendon rupture
* Shin splints
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Dislocation of jaw
|
c0159914
| 25,845 |
wikipedia
|
https://en.wikipedia.org/wiki/Dislocation_of_jaw
| 2021-01-18T19:01:56 |
{"umls": ["C0159914"], "icd-9": ["830"], "icd-10": ["S03.0"], "wikidata": ["Q4128726"]}
|
## Description
CHK2, a protein kinase that is activated in response to DNA damage, is involved in cell cycle arrest.
Cloning and Expression
In response to DNA damage and replication blocks, cells prevent cell cycle progression through the control of critical cell cycle regulators. To investigate checkpoint conservation, Matsuoka et al. (1998) used PCR and database analysis to identify CHK2, the mammalian homolog of Saccharomyces cerevisiae Rad53 and Schizosaccharomyces pombe cds1+, protein kinases required for DNA damage and replication checkpoints. The longest human cDNA encoded a 543-amino acid protein with 83% identity to mouse Chk2 and 34% identity to Drosophila Dmnk, a protein highly expressed in ovaries for which a function in meiosis had been suggested. Human CHK2 protein is 26% identical to Rad53 and 26% identical to cds1+. Sequence analysis revealed a single forkhead-associated (FHA) domain, a 60-amino acid protein interaction domain essential for activation in response to DNA damage that is conserved in the Rad53/cds1+ family of kinases. CHK2 has a potential regulatory region rich in SQ and TQ amino acid pairs. Northern blot analysis revealed wide expression of small amounts of CHK2 mRNA with larger amounts in human testis, spleen, colon, and peripheral blood leukocytes. CHK2 complemented the lethality of a Rad53 deletion.
Blasina et al. (1999) and Chaturvedi et al. (1999) independently identified CHK2.
Gene Function
Matsuoka et al. (1998) demonstrated that CHK2 was rapidly phosphorylated and activated in response to replication blocks and DNA damage. The response to DNA damage occurred in an ATM (see 607585)-dependent manner. In vitro, CHK2 phosphorylated CDC25C (157680) on serine-216, a site known to be involved in negative regulation of CDC25C. This is the same site phosphorylated by the protein kinase CHK1 (603078), which suggests that, in response to DNA damage and DNA replicational stress, CHK1 and CHK2 may phosphorylate CDC25C to prevent entry into mitosis.
Brown et al. (1999) referred to CHK2 as human CDS1. Affinity-purified antibodies to CHK2 recognized an endogenous 65-kD protein in 293 cells and 65-kD protein in cells transfected with a plasmid encoding untagged CHK2. When several human tissues were analyzed by immunoblotting, CHK2 protein was detected only in testis. Brown et al. (1999) found that CHK2 was modified by phosphorylation and activated in response to ionizing radiation, and was also modified in response to hydroxyurea treatment. Functional ATM protein was required for CHK2 modification after ionizing radiation but not after hydroxyurea treatment. Like its fission yeast counterpart, CHK2 phosphorylated CDC25C to promote the binding of 14-3-3 proteins (see 113508). These findings suggest that the checkpoint function of CHK2 is conserved in yeast and mammals.
Chehab et al. (2000) expressed CHK2 in human cells and analyzed its cell cycle profile. Wildtype, but not catalytically inactive, CHK2 led to G1 arrest after DNA damage. The arrest was inhibited by cotransfection of a dominant-negative p53 (TP53; 191170) mutant, indicating that CHK2 acted upstream of p53. In vitro, CHK2 phosphorylated p53 on serine-20 and dissociated preformed complexes of p53 with MDM2 (164785), a protein that targets p53 for degradation. In vivo, ectopic expression of wildtype CHK2 led to increased p53 stabilization after DNA damage, whereas expression of a dominant-negative CHK2 mutant abrogated both phosphorylation of p53 on serine-20 and p53 stabilization. Thus, in response to DNA damage, CHK2 stabilizes the p53 tumor suppressor protein leading to cell cycle arrest in G1.
Lee et al. (2000) reported that CHK2 regulates BRCA1 (113705) function after DNA damage by phosphorylating serine-988 of BRCA1. Lee et al. (2000) demonstrated that CHK2 and BRCA1 interact and colocalize within discrete nuclear foci but separate after gamma irradiation. Phosphorylation of BRCA1 at serine-988 is required for the release of BRCA1 from CHK2. This phosphorylation is also important for the ability of BRCA1 to restore survival after DNA damage in the BRCA1-mutated cell line HCC1937.
When exposed to ionizing radiation, eukaryotic cells activate checkpoint pathways to delay the progression of the cell cycle. Defects in the ionizing radiation-induced S-phase checkpoint cause 'radioresistant DNA synthesis,' a phenomenon that has been identified in cancer-prone patients suffering from ataxia-telangiectasia. The CDC25A phosphatase (116947) activates the cyclin-dependent kinase 2 (CDK2; 116953) needed for DNA synthesis, but becomes degraded in response to DNA damage or stalled replication. Falck et al. (2001) reported a functional link between ATM, checkpoint signaling kinase CHK2, and CDC25A, and implicated this mechanism in controlling the S-phase checkpoint. Falck et al. (2001) showed that ionizing radiation-induced destruction of CDC25A requires both ATM and the CHK2-mediated phosphorylation of CDC25A on serine-123. An ionizing radiation-induced loss of CDC25A protein prevents dephosphorylation of CDK2 and leads to a transient blockade of DNA replication. Falck et al. (2001) also showed that tumor-associated CHK2 alleles cannot bind or phosphorylate CDC25A, and that cells expressing these CHK2 alleles, elevated CDC25A, or a CDK2 mutant unable to undergo inhibitory phosphorylation (CDK2AF) fail to inhibit DNA synthesis when irradiated. Falck et al. (2001) concluded that their results support CHK2 as a candidate tumor suppressor, and identify the ATM--CHK2--CDC25A--CDK2 pathway as a genomic integrity checkpoint that prevents radioresistant DNA synthesis.
Falck et al. (2002) demonstrated that experimental blockade of either the NBS1 (602667)-MRE11 (600814) function or the CHK2-triggered events leads to a partial radioresistant DNA synthesis phenotype in human cells. In contrast, concomitant interference with NBS1-MRE11 and the CHK2-CDC25A-CDK2 pathways entirely abolishes inhibition of DNA synthesis induced by ionizing radiation, resulting in complete radioresistant DNA synthesis analogous to that caused by defective ATM. In addition, CDK2-dependent loading of CDC45 (603465) onto replication origins, a prerequisite for recruitment of DNA polymerase, was prevented upon irradiation of normal or NBS1/MRE11-defective cells but not cells with defective ATM. Falck et al. (2002) concluded that in response to ionizing radiation, phosphorylation of NBS1 and CHK2 by ATM triggers 2 parallel branches of the DNA damage-dependent S-phase checkpoint that cooperate by inhibiting distinct steps of DNA replication.
By transfection of human embryonic kidney and adenocarcinoma cells with CHEK2 carrying various domain or point mutations, Ahn et al. (2002) demonstrated that the phosphorylation of thr68 by ATM promotes oligomerization of CHEK2 via binding of the thr68-phosphorylated region in 1 CHEK2 molecule to the unphosphorylated FHA domain of another. CHEK2 also phosphorylates its own FHA domain, and this modification reduces its affinity for thr68-phosphorylated CHEK2. Ahn et al. (2002) concluded that oligomerization of CHEK2 increases the efficiency of transautophosphorylation, resulting in the release of active CHEK2 monomers that proceed to enforce checkpoint control in irradiated cells.
Lopes et al. (2001) used the 2-dimensional gel type technique to examine replication intermediates in response to hydroxyurea-induced replication blocks in S. cerevisiae. They showed that hydroxyurea-treated Rad53 mutants accumulate unusual DNA structures at replication forks. The persistence of these abnormal molecules during recovery from the hydroxyurea block correlates with the inability to dephosphorylate Rad53. Further, Rad53 is required to properly maintain stable replication forks during the block. Lopes et al. (2001) proposed that Rad53 prevents collapse of the fork when replication pauses.
To characterize the mechanisms controlling replication fork integrity in S. cerevisiae, Sogo et al. (2002) analyzed replication intermediates formed in response to replication blocks using electron microscopy. At the forks, wildtype cells accumulated short single-stranded regions, which likely causes checkpoint activation, whereas Rad53 mutants exhibited extensive single-stranded gaps and hemi-replicated intermediates, consistent with a lagging-strand synthesis defect. Furthermore, Rad53 mutant cells accumulated Holliday junctions through fork reversal. Sogo et al. (2002) speculated that, in checkpoint mutants, abnormal replication intermediates begin to form because of uncoordinated replication and are further processed by unscheduled recombination pathways, causing genome instability.
Yang et al. (2002) determined that PML (102578) and CHEK2 mediated p53-independent apoptosis following gamma irradiation of several human cell lines. Endogenous CHEK2 bound PML within PML nuclear bodies. Following gamma irradiation, CHEK2 phosphorylated PML on ser117, causing dissociation of the 2 proteins. Yang et al. (2002) concluded that this pathway to gamma irradiation-induced apoptosis utilizes ATM, CHEK2, and PML.
Bartkova et al. (2005) showed that in clinical specimens from different stages of human tumors of the urinary bladder, breast, lung, and colon, the early precursor lesions, but not normal tissues, commonly express markers of an activated DNA damage response. These include phosphorylated kinases ATM (607585) and CHK2 and phosphorylated histone H2AX (601772) and p53 (191170). Similar checkpoint responses were induced in cultured cells upon expression of different oncogenes that deregulate DNA replication. Together with genetic analyses, including a genomewide assessment of allelic imbalances, Bartkova et al. (2005) concluded that early in tumorigenesis (before genomic instability and malignant conversion), human cells activate an ATR/ATM-regulated DNA damage response network that delays or prevents cancer. Mutations compromising this checkpoint, including defects in the ATM-CHK2-p53 pathway, might allow cell proliferation, survival, increased genomic instability, and tumor progression.
Gorgoulis et al. (2005) analyzed a panel of human lung hyperplasias, all of which retained wildtype p53 genes and had no signs of gross chromosomal instability, and found signs of a DNA damage response, including histone H2AX and CHK2 phosphorylation, p53 accumulation, focal staining of p53 binding protein-1 (53BP1; 605230), and apoptosis. Progression to carcinoma was associated with p53 or 53BP1 inactivation and decreased apoptosis. A DNA damage response was also observed in dysplastic nevi and in human skin xenografts, in which hyperplasia was induced by overexpression of growth factors. Both lung and experimentally-induced skin hyperplasias showed allelic imbalance at loci that are prone to DNA double-strand break formation when DNA replication is compromised (common fragile sites). Gorgoulis et al. (2005) proposed that, from its earliest stages, cancer development is associated with DNA replication stress, which leads to DNA double-strand breaks, genomic instability, and selective pressure for p53 mutations.
Pregueiro et al. (2006) found that the Neurospora checkpoint kinase-2, called Prd4, is regulated by the circadian clock and that, reciprocally, Prd4 physically interacts with the clock component Frq, promoting its phosphorylation. DNA-damaging agents can reset the clock in a manner that depends on time of day, and this resetting is dependent on Prd4. Thus, Pregueiro et al. (2006) concluded that Prd4, the Neurospora Chk2, identifies a molecular link that feeds back conditionally from circadian output to input and the cell cycle.
Janssen et al. (2011) demonstrated that chromosome segregation errors can also result in structural chromosome aberrations. Chromosomes that missegregate are frequently damaged during cytokinesis, triggering a DNA double-strand break response in the respective daughter cells involving ATM (607585), CHK2, and p53. Janssen et al. (2011) showed that these double-strand breaks can lead to unbalanced translocations in the daughter cells. Janssen et al. (2011) concluded that their data showed that segregation errors can cause translocations and provided insights into the role of whole-chromosome instability in tumorigenesis.
Bolcun-Filas et al. (2014) reported that Chek2 is essential for culling mouse oocytes bearing unrepaired meiotic or induced DNA double-strand breaks. Female infertility caused by a meiotic recombination mutation or irradiation was reversed by mutation of Chek2. Both meiotically programmed and induced double-strand breaks trigger Chek2-dependent activation of Tp53 (191170) and Tp63 (603273), effecting oocyte elimination. Bolcun-Filas et al. (2014) concluded that these data established CHEK2 as essential for DNA damage surveillance in female meiosis and indicated that the oocyte double-strand break damage response primarily involves a pathway hierarchy in which ATR (601215) signals to CHEK2, which then activates TP53 and TP63.
Molecular Genetics
Bell et al. (1999) identified heterozygous germline mutations in CHK2 in patients with Li-Fraumeni syndrome-2 (609265). Bell et al. (1999) suggested that CHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and that their observations provided a link between the central role of p53 (191170) inactivation in human cancer and the well-defined G2 checkpoint in yeast.
Vahteristo et al. (2001) analyzed the CHK1 (603078), CHK2, and p53 genes for mutations in 44 Finnish families with Li-Fraumeni syndrome, Li-Fraumeni-like syndrome (see 151623), or a phenotype suggestive of Li-Fraumeni syndrome. Five different disease-causing mutations were observed in 7 families: 4 in the p53 gene and 1 in the CHK2 gene. The CHK2 mutation occurred in 2 families and was the same as that reported by Bell et al. (1999): 1100delC (604373.0001). The families originated from different parts of Finland, were not known to be related, and segregated different chromosome 22 haplotypes. Thus, 1100delC is clearly a disease-causing mutation and represents a mutation hotspot in the CHK2 gene. The phenotypes of the 2 families were considered atypical because of the lack of sarcomas or childhood cancers. In contrast, the family with this mutation reported by Bell et al. (1999) had classic LFS.
Ino et al. (2000) concluded that the CHK2 gene is not the target of somatic inactivation in malignant gliomas.
Bell et al. (1999) identified a C-to-T transition at nucleotide 433 of the CHK2 gene resulting in an arginine-to-tryptophan substitution at codon 145 (R145W) in a colon cancer (114500) cell line.
Lee et al. (2001) demonstrated inactivating mutations of both alleles of CHEK2 in a sporadic colon carcinoma cell line; the 2 mutations were A247D and R145W (604373.0003).
Because inherited CHK2 mutations are found in some Li-Fraumeni cancer syndrome families, Miller et al. (2002) examined the role of CHK2 mutations in sporadic cancer. They found missense mutations affecting the forkhead and kinase domains in 4 of 57 osteosarcomas (259500), 1 of 20 ovarian cancers, and 1 of 35 nonsmall cell lung cancers. The finding of CHK2 gene mutations were consistent with osteosarcoma being a defining tumor of Li-Fraumeni syndrome. The occurrence of CHK2 mutations in sporadic cancers emphasized the importance of the stress pathway, which includes TP53.
Mutations in BRCA1 (113705) and BRCA2 (600185) confer a high risk of breast and ovarian cancer, but account for only a small fraction of breast cancer susceptibility. To find additional genes conferring susceptibility to breast cancer, Meijers-Heijboer et al. (2002) analyzed the CHEK2 gene, which was considered a plausible candidate gene because it encodes a cell-cycle checkpoint kinase that is implicated in DNA repair processes involving BRCA1 and p53. They found that CHEK2*1100delC (604373.0001), a truncating variant that abrogates the kinase activity, has a frequency of 1.1% in healthy individuals and 5.1% in individuals with breast cancer derived from 718 families that did not carry mutations in BRCA1 or BRCA2, including 13.5% of individuals from families with male breast cancer. They estimated that the CHEK2*1100delC variant results in an approximately 2-fold increase of breast cancer risk in women and a 10-fold increase of risk in men. By contrast, the variant conferred no increased cancer risk in carriers of BRCA1 or BRCA2 mutations. This suggested that the biologic mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.
Among 578 men with prostate cancer (176807), Dong et al. (2003) found 28 (4.8%) germline CHEK2 mutations, 16 of which were unique. Additional screening for CHEK2 mutations in 149 families with familial prostate cancer revealed 11 mutations (5 unique) in 9 families, including 2 frameshift and 3 missense mutations. Sixteen of 18 unique CHEK2 mutations identified in both sporadic and familial cases were not detected among 423 unaffected men, suggesting a pathologic effect of CHEK2 mutations in prostate cancer development. Analysis of 2 frameshift mutations revealed abnormal splicing in one and a dramatic reduction of CHEK2 protein levels in both.
Wu et al. (2006) presented evidence that both germline and somatic CHEK2 mutations identified in prostate cancer may contribute to the development of prostate cancer through the reduction of CHEK2 activation in response to DNA damage and/or oncogenic stress.
To investigate whether CHEK2 variants confer susceptibility to breast cancer, Schutte et al. (2003) screened the full CHEK2 coding sequence in BRCA1/BRCA2-negative breast cancer cases from 89 pedigrees with 3 or more cases of breast cancer. One novel germline variant and 2 other mutations were identified, but none occurred at significantly elevated frequency in familial breast cancer cases compared with controls. Schutte et al. (2003) concluded that the 1100delC may be the only CHEK2 allele that makes an appreciable contribution to breast cancer susceptibility.
Meijers-Heijboer et al. (2003) identified the 1100delC variant in affected members of families segregating a breast and colorectal cancer phenotype. The 1100delC mutation was not, however, the major predisposing factor for the phenotype, but appeared to act in synergy with at least 1 unknown susceptibility gene.
In Poland, there are 3 polymorphic variants of CHEK2, which, in aggregate, are present in 5.5% of the population. Two of these, 1100delC (604373.0001) and IVS2+1G-A (604373.0013), are rare and result in premature protein termination; a third is a common missense variant, I157T (604373.0002). Cybulski et al. (2004) found that all 3 variants are associated with an increased risk of prostate cancer in Poland. Cybulski et al. (2004) ascertained the prevalence of each of these alleles in 4,008 cancer cases and 4,000 controls, all from Poland. The majority of the common cancer sites were represented. Positive associations with protein-truncating alleles were seen for cancer of the thyroid, breast, and prostate. The missense variant I157T was associated with an increased risk of breast cancer, colon cancer, kidney cancer, prostate cancer, and thyroid cancer. The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.
Shaag et al. (2005) identified 2 extended haplotypes at CHEK2 that cosegregated with breast cancer in high-risk families. Two amino acid substitutions were discovered: ser428-to-phe (S428F; 604373.0014) in the kinase domain and pro85-to-leu (P85L; 604373.0005) in the N-terminal region. The S428F allele failed to complement a Rad53 deletion in S. cerevisiae, reflecting abrogation of normal CHEK2 function, whereas the P85L allele complemented Rad53 as did wildtype CHEK2. Frequencies of S428F heterozygotes were 3% among 1,632 female breast cancer patients (not selected for family history or age at diagnosis) and 1.4% among 1,673 controls, whereas frequencies of P85L were 0.9% among cases and 0.8% among controls. On the basis of the experience of mothers, sisters, and daughters of probands, breast cancer risk due to S428F alleles was estimated as 0.17 (+/- 0.08) by age 60. Presence of an S428F allele increased breast cancer risk approximately 2-fold among Ashkenazi Jewish women, whereas P85L is a neutral allele. Shaag et al. (2005) suggested that selecting probands with extended haplotypes that cosegregate with disease may improve the efficiency of resequencing efforts, and that quantitative complementation tests in yeast may be used to evaluate variants in genes with highly conserved function.
Cybulski et al. (2006) identified 1 of 4 CHEK2 founder alleles (1100delC, IVS2+1G-A, I157T, and a 5.4-bp deletion; 604373.0012) in 184 (9.9%) of 1,864 Polish patients with prostate cancer. The odds ratio for disease development of patients with truncating mutations was higher than the odds ratio of those with missense mutations.
Animal Model
Hirao et al. (2000) generated Chk2-deficient mouse embryonic cells by gene targeting. Chk2 -/- embryonic stem cells failed to maintain gamma-irradiation-induced arrest in the G2 phase of the cell cycle. Chk2 -/- thymocytes were resistant to DNA damage-induced apoptosis. Chk2 -/- cells were defective for p53 stabilization and for induction of p53-dependent transcripts such as p21 in response to gamma irradiation. Reintroduction of the Chk2 gene restored p53-dependent transcription in response to gamma irradiation. Chk2 directly phosphorylated p53 on serine 20, which is known to interfere with Mdm2 binding. Hirao et al. (2000) concluded that this provides a mechanism for increased stability of p53 by prevention of ubiquitination in response to DNA damage. They further concluded, in light of the finding of 2 mutations in CHK2 in patients with Li-Fraumeni syndrome (Bell et al., 1999), that the results provided a mechanistic link between Chk2 and p53 to explain the phenotypic similarity of these 2 genetically distinct Li-Fraumeni syndrome families. Thus, like p53, Chk2 may contribute to a wide range of human cancers.
In an effort to clarify the roles of Chek2 and Atm in tumorigenesis, Hirao et al. (2002) compared the G1/S checkpoint, apoptosis, and expression of p53 proteins in thymocytes isolated from Chek2-null mice and Atm-null mice. They determined that Chek2 can regulate p53-dependent apoptosis in an Atm-independent manner. Radiation-induced apoptosis was restored in Chek2-null thymocytes by reintroduction of the wildtype Chek2 gene, but not by a Chek2 gene in which the sites phosphorylated by Atm or Atr (601215) were mutated to alanine.
Iijima-Ando et al. (2010) showed that Chk2 is a novel tau (MAPT; 157140) kinase. Overexpression of Drosophila Chk2 increased tau phosphorylation at ser262 and enhanced tau-induced neurodegeneration in transgenic flies expressing human tau. The nonphosphorylatable ser262-to-ala mutation abolished Chk2-induced enhancement of tau toxicity, suggesting that the ser262 phosphorylation site may be involved in the enhancement of tau toxicity by Chk2. In vitro kinase assays revealed that human CHK2 and CHK1 directly phosphorylated human tau at ser262. Drosophila Chk2 did not modulate the activity of the fly homolog of microtubule affinity regulating kinase (see MARK3, 602678), which has been shown to be a physiologic tau ser262 kinase. The authors suggested that CHK1 and CHK2 may be involved in tau phosphorylation and toxicity in the pathogenesis of Alzheimer disease (AD; 104300).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
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CHECKPOINT KINASE 2
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c1858433
| 25,846 |
omim
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https://www.omim.org/entry/604373
| 2019-09-22T16:12:03 |
{"omim": ["604373"], "synonyms": ["Alternative titles", "CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF", "CHK2", "RAD53, S. CEREVISIAE, HOMOLOG OF", "CDS1, S. POMBE, HOMOLOG OF"]}
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A number sign (#) is used with this entry because testicular germ cell tumors have been associated with somatic mutation in several genes; see MOLECULAR GENETICS.
Description
Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000).
### Genetic Heterogeneity of Testicular Germ Cell Tumors
A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27.
Clinical Features
Hutter et al. (1967) reviewed the reports of testicular tumors in brothers and in twins and reported affected brothers.
Gustavson et al. (1975) reported bilateral testicular teratoma in 2 infant brothers with XXY Klinefelter syndrome. One of them also had hydrocephalus due to stenosis of the aqueduct of Sylvius. Familial occurrence of the Klinefelter syndrome is rare. The association of the Klinefelter syndrome and testicular teratoma may be more than coincidental because they have been observed together in other cases and many testicular teratoma are both X-chromatin and Y-chromatin positive suggesting that they are XXY.
Raghavan et al. (1980) reported a father who had sequential bilateral seminomas and a son who had embryonal cell carcinoma and seminoma. The authors reviewed 5 other reports of testicular tumors in father and son, as well as 7 reports of concordant monozygotic twin pairs and 11 reports of nontwin brothers. The report of Raghavan et al. (1980) illustrates the dominant inheritance of hereditary tumors and their bilaterality (e.g., acoustic neuroma, retinoblastoma, pheochromocytoma, etc.). The sons (and other first-degree relatives) of men with bilateral tumors may be at particular risk.
Shinohara et al. (1980) reported mature testicular teratoma in 2 first cousins. Furthermore, the common grandparents were consanguineous, being related as first cousins. The parent (i.e., the parent involved in the consanguinity) of the teratoma-carrying boys was the mother in one case and the father in the other. In a 10-member sibship in a Spanish-American family, DiBella (1983) described testicular neoplasm in 3 brothers, benign ovarian neoplasms in 2 sisters, suspected benign tumors of the uterus in 2 additional sisters, and a suspected testicular mass in a fourth brother. Lynch et al. (1985) described the infantile form of embryonal carcinoma of the testis in a 5-year-old boy and in a 23-year-old man who was the maternal half brother of his mother. Copeland et al. (1986) reported testicular embryonal carcinoma in 2 brothers and a first cousin.
Von der Maase et al. (1986) found carcinoma in situ in the contralateral testis in 27 of 500 patients (5.4%) with unilateral testicular germ cell cancer. The estimated risk of developing invasive growth from the contralateral testicular cancer was 40% within 3 years and 50% within 5 years. None of the 473 patients without carcinoma in situ detected by screening biopsy developed contralateral testicular cancer after an observation time ranging from 12 to 96 months. These observations suggested to the authors that there is a subset of this type of testicular cancer that is genetic and has a bilateral predisposition. The authors suggested that all such carcinomas begin as carcinoma in situ. Von der Maase et al. (1986) recommended that all patients with unilateral testicular germ cell cancer should be offered biopsy of the contralateral testis. Of the 27 patients, 16 had a cancer that was labeled seminoma and 11 had a cancer that was considered to be nonseminoma. It would be of great interest to know the median age of the patients with contralateral carcinoma in situ as contrasted with the others. If these represent a subset who had inherited 1 of the 2 mutations according to the Knudson theory, then the patients with contralateral carcinoma in situ should have an earlier average age of development of carcinoma.
Patel et al. (1990) reported 6 cases of familial testicular cancer: 4 father-son pairs, a pair of brothers, and a 23-year-old man who had a maternal uncle with testicular cancer. In the U.K., according to Forman et al. (1992), 42 families with 2 or more cases of testicular cancer were reported to the familial testicular cancer registry. These families included 2 pairs of identical twins, 27 sets of other brothers (25 pairs, 2 triples), 9 father-son pairs, 2 pairs of first cousins, and 2 uncle-nephew pairs. In all, 91 testicular tumors were described in 86 persons. Pure seminoma was present in 46% and other germ cell tumors in 54%. The median age at diagnosis was significantly younger than in a comparable series of nonfamilial patients. The cumulative risk of developing testicular cancer by the age of 50 years for a brother of a patient was estimated to be 2.2%, which results in a relative risk of 9.8 in comparison with the general population. No significant peculiarity of class I HLA type was found in a study of 21 affected sib pairs.
Huddart et al. (1996) studied 3 families suggesting that there is a familial predisposition to both male and female germ cell tumors. In 1, the proband presented with a seminoma at the age of 51, his brother had had a testicular teratoma at the age of 28, and their cousin had an endodermal sinus tumor of the ovary diagnosed at 32 years. In the second family, the index case presented with an undifferentiated malignant teratoma at 28 years of age and his sister was diagnosed with bilateral mature teratomatous cysts at the age of 39. In the third family, the index case presented with a retroperitoneal teratoma at 26 years and his sister was diagnosed with an ovarian dysgerminoma at 45 years. Huddart et al. (1996) noted that none of these families had any features indicative of the Li-Fraumeni syndrome (151623) or any other cancer family syndrome. Trentini and Palmieri (1974) and Yule et al. (1994) reported single families with ovarian and testicular germ cell tumors and Jackson (1967) presented a family with multiple cases of dysgerminoma.
Greene et al. (2010) noted that in familial cases the most common number of affected family members was 2, that age at diagnosis was 2 to 3 years younger for familial versus sporadic cases, and that familial TGCT were more likely to be bilateral than sporadic TGCT.
### Association with Testicular Microlithiasis
Coffey et al. (2007) analyzed the frequency of testicular microlithiasis (TM; 610441) in 169 patients with testicular germ cell tumor (TGCT), 58 relatives, and 101 controls and found that TM was more frequent in unaffected male relatives of TGCT cases than controls and that patients with a history of TGCT had a higher frequency of TM in their contralateral remaining testis than controls. Coffey et al. (2007) also demonstrated significant concordance of TM between relatives, raising the hypothesis that TGCT and TM have a joint etiology.
Korde et al. (2008) performed testicular ultrasound in 48 men with familial testicular cancer from 31 families with at least 2 cases of TGCT, and in 33 of their unaffected male relatives. Testicular microlithiasis (TM) was more frequent in the contralateral testicles of men with a history of TGCT than in unaffected men (48% vs 24%; p = 0.04). The association appeared stronger for men with 5 or more microliths than for those with less than 5 microliths. Testicular microlithiases were bilateral in 6 (75%) of the 8 unaffected men in whom they were detected. Among affected men, TM was not associated with histology, age at diagnosis, or cancer treatment. Korde et al. (2008) noted that TM was more prevalent among unaffected family members in this study (24%) than previously described in the general population (0.6 to 9%), and that it appeared to cluster in certain families. The findings suggested both a familial predisposition to TM and an association between TM and TGCT.
Population Genetics
Forman et al. (1992) reported an epidemiologic study that showed an 8- to 10-fold increase in relative risk of testicular cancer to brothers of patients and a 4-fold increase in risk to fathers and sons. Families with multiple cases of testicular cancer are rare and almost all those reported have only 2 affected members.
Heimdal et al. (1996) found that 51 of 922 (5.5%) Norwegian patients with testicular cancer and 5 of 237 (2.1%) Swedish patients had a relative with confirmed testicular cancer. It was a first-degree relative who was affected in the case of 32 of the probands. Standardized incidence ratios (SIRs) were 10.2 for brothers, 4.3 for fathers, and 5.7 for sons. The estimate for the risk to brothers in the Norwegian part of the sample for development of testicular cancer by the age of 60 was 4.1%. Patients with familial testicular cancer had bilateral tumors more often than sporadic cases (9.8% bilaterality in familial vs 2.8% in sporadic cases; P = 0.02). For patients with seminoma, age of onset was lower in familial than in sporadic cases (32.9 vs 37.6 years; P = 0.06). Heimdal et al. (1996) stated that the prevalence of undescended testis did not seem to be higher in familial than in sporadic testicular cancer.
Einhorn (2002) stated that the highest worldwide incidence of germ cell tumors is in Scandinavian countries; by contrast, testicular cancer is rare in African Americans. The primary age group is 15 to 35 years for nonseminomatous tumors and a decade older for seminomas. Although cases are few, germ cell tumors are important because they represent the most common carcinoma in men aged 15 to 35 years and thus have the potential to greatly shorten productive years of life. Available serum markers such as alphafetoprotein (104150) and human chorionic gonadotropin have allowed clinicians to make important and accurate treatment-related decisions. Testicular cancer is a model for multidisciplinary care, as surgical resection of postchemotherapy radiographically persistent disease can improve the cure rate. Germ cell tumors have become an excellent testing ground for experimental drugs, a number of which were first approved by the Food and Drug Administration primarily on the basis of data in testicular cancer.
Inheritance
Greene et al. (2010) reviewed the genetic risk factors and clinical phenotype of familial testicular germ cell tumors in adults, noting that although linkage analyses had identified several genomic regions of modest interest, no high-penetrance cancer susceptibility gene had been mapped to date, suggesting that the combined effects of multiple common alleles, each conferring modest risk, might underlie familial testicular cancer.
### L1 Methylation Status
Mirabello et al. (2010) studied global methylation at long interspersed nuclear elements-1 (L1; 151626) in DNA from 152 patients with TGCT and 314 unaffected family members from 101 multiple-case testicular cancer families. Analysis of the correlation of L1 methylation levels among parent-child pairs independent of affection status revealed a strong positive association only between mother-daughter (r = 0.48; p = 0.0002) and father-daughter (r = 0.31; p = 0.021) pairs, suggesting gender-specific inheritance of methylation. Incorporating cancer status into the analysis revealed a strong correlation in L1 methylation levels only among affected father-son pairs (r = 0.49; p = 0.03). There was a marginally significant inverse association between lower L1 methylation levels and increased risk of TGCT, compared to healthy male relatives (p = 0.049). Mirabello et al. (2010) stated that their findings suggested that heritability of L1 methylation might be gender-specific, and that transgenerational inheritance of L1 methylation levels might be associated with testicular cancer risk.
Cytogenetics
Studying direct preparations and 24-hr cultures, Atkin and Baker (1982) found an isochromosome for the short arm of chromosome 12 in all of 10 seminomas, 1 malignant teratoma, and 1 combined seminoma and teratoma of the testis. (The same workers found a possible isochromosome for 5p in 12 of 18 carcinomas of the cervix.) They also noted a relative excess of normal chromosomes 12 in 4 of 5 of the seminomas analyzed in detail. Castedo et al. (1989) found at least 1 copy of a 12p isochromosome in 8 of 10 seminomas. Thus, the authors concluded that amplification of 1 or more genes on the short arm of chromosome 12 may be important in the development of malignant testicular tumors. Chromosomal changes presumably lead to the malignant phenotype by gene loss, gene modification or gene amplification.
Samaniego et al. (1990) analyzed the karyotype of 24 male germ cell tumors from both testicular and extragonadal sites and belonging to the histologic categories seminoma, teratoma, embryonal carcinoma, choriocarcinoma, and endodermal sinus tumor. In 90% of tumors, including all histologic subtypes and both gonadal and extragonadal presentation, they found isochromosome 12p. In contrast, they found del(12)(q13-q22) exclusively in nonseminomatous GCTs, and mixed GCTs occurring in 44% of such lesions. They developed a method based on DNA analysis for detecting i(12p) as increased copy number of 12p. Furthermore, they detected cytologic evidence of gene amplification in 12p in the form of homogeneously staining regions (HSRs) and double minute chromosomes in both treated and untreated primary extragonadal and metastatic GCTs.
Suijkerbuijk et al. (1991, 1992) applied competitive in situ hybridization (CISH) techniques (Kievits et al., 1990) to show that the aberrant chromosome in testicular germ cell tumors is indeed an isochromosome 12p. Other marker chromosomes representing translocation products that involve chromosome 12 were also identified. In the studies, DNAs from 2 rodent-human somatic cell hybrids, containing either a normal chromosome 12 or the p arm of chromosome 12 as their unique human material, were used as probes. (Competitive in situ hybridization, also referred to as chromosome painting, employs large pools of cloned genomic sequences originating from a single human chromosome as probe and involves a preannealing step in the presence of an excess of sonicated total human DNA. It results in complete staining of the particular chromosome in metaphase spreads and in interphase nuclei. Kievits et al., 1990 stated that the approach permits detection of hitherto undetectable chromosomal aberrations.)
In a cytogenetic analysis of 65 consecutively ascertained GCTs with chromosomal abnormalities, Rodriguez et al. (1992) found that an isochromosome for the short arm of chromosome 12 (i(12p)), monosomy 12, and deletions in 12q occurred with frequencies of 86%, 11%, and 20% respectively.
Because a marker chromosome interpreted as isochromosome 12p is present in most testicular tumors of germ cell origin, Peltomaki et al. (1992) investigated 22 patients with testicular germ cell tumors by Southern blot hybridization to characterize changes in chromosome 12. In comparison with normal DNA, tumor DNA of 18 patients showed increased dosages of 12p accompanied by a comparable or smaller increase or no change in the dosage of centromeric sequences of chromosome 12. The interpretation offered by the authors was that most testicular tumors had one or several isochromosomes for 12p that were formed by somatic division of the centromere and that the points of breakage and reunion in the centromeric region were different in different tumors. Sex-limited parental imprinting was excluded by the fact that allelic 12p fragments showing increased intensity were paternal in 4 and maternal in 3 of 7 informative cases. Furthermore, the observed patterns of allelic fragments suggested that the marker isochromosome was formed by sister chromatids of 1 homolog number 12 rather than the result of interchange of genetic material between different homologs.
Ottesen et al. (2004) studied 3 brothers with germ cell tumors. One had an intracranial tumor in the pineal region and the other 2 had testicular tumors. No abnormalities were detected in peripheral blood with karyotyping and molecular marker analysis of selected loci. High-resolution comparative genomic hybridization (CGH) analysis of microdissected histologic components of the overt tumors and the adjacent carcinoma in situ demonstrated a pattern of genomic imbalances characteristic for sporadic GCTs, including gain of 12p.
Stadler et al. (2012) investigated germline de novo copy number variations (CNVs) in 382 genomes of 116 early-onset cancer case parent trios and unaffected sibs. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were found in 7% of 43 testicular germ cell tumor trios; this percentage exceeded background CNV rates and suggested a rare de novo genetic paradigm for susceptibility to some human malignancies.
Mapping
### Genomewide Association Studies
Leahy et al. (1995) performed a sib-pair analysis on 35 families in which there were either 2 or 3 affected brothers. These families were typed for 220 autosomal microsatellite markers spaced 10-20 cM throughout the genome. Six regions that gave a lod score of more than 1.0 on formal linkage analysis or a p value of 0.05 or less using a nonparametric approach were considered as candidate regions for a susceptibility gene. Of particular interest was one region on chromosome 4. A positive lod score of 2.6 on multipoint analysis was obtained with 2 neighboring probes in the region of 4cen-q13.
Rapley et al. (2009) performed a genomewide association study involving 730 TGCT cases and 1,435 controls, with replication in 571 cases and 1,806 controls, and found the strongest evidence for association with rs995030 (OR, 2.55; p = 1.0 x 10(-31)) and rs1508595 (OR, 2.69; p = 2.6 x 10(-30)) that are both located within the same linkage disequilibrium block on chromosome 12q22. Rapley et al. (2009) noted that this region contains only 1 annotated protein-coding gene, KITLG (184745), encoding the ligand for KIT, which has previously been implicated in the pathogenesis of TGCT. There was also evidence for susceptibility loci at rs4624820 located 10-kb 3-prime of the SPRY4 gene (607984) on chromosome 5q31.3 (per-allele odds ratio, 1.37; p = 3.3 x 10(-13)) and at rs210138 located in an intron of the BAK1 gene (600516) on chromosome 6p21.3-p21.2 (OR, 1.50; p = 1.1 x 10(-13)).
In a genomewide scan involving 277 TGCT cases and 919 controls, Kanetsky et al. (2009) found 7 markers at chromosome 12q22 within the KITLG gene that reached genomewide significance (p less than 5.0 x 10(-8)); in independent replication using 371 TGCT cases and 860 controls, TGCT risk increased 3-fold per copy of the major allele at rs3782179 and rs4474514. The markers were associated with both seminoma and nonseminoma TGCT subtypes.
Turnbull et al. (2010) conducted a genomewide association study for testicular germ cell tumor, genotyping 298,782 SNPs in 979 affected individuals and 4,947 controls from the U.K. and replicating associations in a further 664 cases and 3,456 controls. Turnbull et al. (2010) identified 3 novel susceptibility loci, 2 of which include genes that are involved in telomere regulation. They identified 2 independent signals within the TERT (187270)-CLPTM1L (612585) locus on chromosome 5p15.33, which had been associated with multiple other cancers (rs4635969, OR = 1.54, P = 1.14 x 10(-23); rs2736100, OR = 1.33, P = 7.55 x 10(-15)). Turnbull et al. (2010) also identified a locus on chromosome 12 (rs2900333, OR = 1.27, P = 6.16 x 10(-10)) that contains ATF7IP, a regulator of TERT expression. Finally, Turnbull et al. (2010) identified a locus on chromosome 9p24.3 (rs755383, OR = 1.37, P = 1.12 x 10(-23)), containing the sex determination gene DMRT1 (602424), which has been linked to teratoma susceptibility in mice.
### Other Mapping Studies
Lothe et al. (1989) found loss of heterozygosity (LOH) for 3p or 11p sequences in 40% of testicular cancers.
Mathew et al. (1994) analyzed chromosome 1 loss of heterozygosity in a panel of 48 GCTs and observed allelic losses in 46% of cases on 1p and in 23% of cases on 1q. There were 4 sites of frequent deletions, 3 in the short arm (1p13, 1p22, and 1p32.2-p31.3) and 1 in the long arm (1q32). Of the 11 probes on 1p that showed allelic losses, the highest frequency of LOH was observed for D1S16 at 1p22 (38.5%). Teratomas showed higher frequency of allelic losses (24.4%) compared to embryonal carcinomas (9.5%), yolk sac tumors (12.1%), or seminomas (7.6%).
Rodriguez et al. (1992) presented data strongly suggested that loss of genetic material on 12q characterizes the development of TGCTs. To define the region of common deletion in GCTs at the molecular level, Murty et al. (1992) compared germline and tumor genotypes for 8 polymorphic loci in paired normal/tumor DNA samples from 45 GCT patients. Analysis demonstrated 2 regions of loss of constitutional heterozygosity, one at 12q13 and the other at 12q22. One tumor exhibited homozygous deletion of a region of 12q22 which includes the MGF gene (184745). The MGF and KIT (164920) genes have been shown to play key roles in embryonal and postnatal development of germ cells. The MGF gene product constitutes the ligand for the receptor encoded by the KIT protooncogene. They evaluated the expression of these 2 genes by Northern blot analysis in a panel of 3 GCT cell lines and 24 fresh GCT biopsies. Deregulated expression of MGF and KIT, which was discordant between seminomatous and nonseminomatous lesions, was observed. Murty et al. (1994) refined their data on the mapping of male germ cell tumors (MGCTs). Using 5 dinucleotide repeats mapping to 12q22, they found LOH in approximately 41% of tumors; one of the loci, D12S218, showed LOH in 37% of tumors, suggesting the presence of a tumor suppressor gene in its vicinity. In this study, a panel of 66 tumor DNA samples and their corresponding normal cells were investigated.
In a detailed deletion mapping analysis of 67 normal-tumor DNA comparisons using 20 polymorphic markers mapped to 12q22-q24, Murty et al. (1996) identified the limit of the minimal region of deletion at 12q22 between D12S377 (proximal) and D12S296 (distal). They constructed a YAC contig map of a 3-cM region of this band and developed a radiation hybrid (RH) map of the region. The consensus order developed by RH mapping was in good agreement with the YAC STS-content map order. The RH map estimated the distance between the D12S101 and D12S346 to be 246 cR(8000) and the minimal region of deletion to be 141 cR(8000).
Murty and Chaganti (1998) reviewed the genetics of male germ cell tumors. A characteristic of GCTs is high sensitivity to cisplatin-based chemotherapy. Chromosomal and molecular cytogenetic studies identified multiplication of 12p, manifested in i(12p) or tandem duplication of 12p, as a unique change in GCTs which serves as a diagnostic marker. Ectopic overexpression of cyclin D2 (CCND2; 123833), which maps to 12p, as early as in carcinoma in situ, identified CCND2 as a candidate gene in germ cell transformation. Genetic alterations identified in the tumor suppressor genes DCC (120470), RB1 (614041), and nonmetastatic protein-23 (NME1; 156490) in GCTs suggested that their inactivation plays a key role in transformation or differentiation. The exquisite sensitivity of these tumors to chemotherapy is reflected in their overexpression of wildtype p53 protein and lack of TP53 mutations.
Zafarana et al. (2002) identified the DADR (609860), SOX5 (604975), and ETNK1 (609858) genes within a region of chromosome 12p amplified in testicular seminomas. Although all 3 genes were amplified to the same level in seminomas with the amplification, only DADR expression was significantly upregulated. DADR was also highly expressed in nonseminomas of various histologies and derived cell lines lacking the 12p amplification. Low DADR expression was observed in normal testicular parenchyma and in parenchyma containing carcinoma in situ. DADR overexpression in seminomas and nonseminomas correlated with invasive growth, reduced apoptosis, and earlier clinical manifestation.
In 97 patients with familial TGCT, 22 patients with sporadic bilateral TGCT, and 871 controls, Kratz et al. (2011) genotyped 106 SNPs in 4 regions, in or near BAK1 on 6p21, DMRT1 on 9p24, KITLG on 12q, and TERT-CLPTM1L on 5p15, all of which had previously been identified in genomewide association studies of TGCT. Three previously identified risk SNPs were replicated in the familial and sporadic bilateral TGCT patients: rs210138 within an intron of BAK1 (OR, 1.80; p = 7.03 x 10(-5)), rs755383 near DMRT1 (OR, 1.67; p = 6.70 x 10 (-4)), and rs4635969 near TERT-CLPTM1L (OR, 1.59; p = 4.07 x 10(-3)). Evidence for a second independent association was found for a SNP within an intron of TERT, rs4975605 (OR, 1.68; p = 1.24 x 10(-3)). In addition, an association with another SNP in KITLG, rs2046971, was identified (OR 2.33; p = 1.28 x 10(-3)); this SNP is in high linkage disequilibrium with the previously reported risk variant rs995030. Kratz et al. (2011) suggested that familial TGCT and sporadic bilateral TGCT are polygenetic diseases caused by the same spectrum of genetic risk factors.
### Y-Chromosome Microdeletion
A 1.6-Mb deletion of the Y chromosome that removes part of the AZFc region--known as the gr/gr deletion (see 415000)--has been associated with infertility. In epidemiologic studies, male infertility has shown an association with testicular germ cell tumor (TGCT) that is out of proportion with what can be explained by tumor effects. Thus, Nathanson et al. (2005) hypothesized that the gr/gr deletion may be associated with TGCT. They analyzed this deletion in a large series of TGCT cases with or without a family history of TGCT. The gr/gr deletion was present in 3% of TGCT cases with a family history. 2% of TGCT cases without a family history, and 1.3% of unaffected males. The presence of the gr/gr deletion was associated with a 2-fold increased risk of TGCT and a 3-fold increased risk of TGCT among patients with a positive family history. The gr/gr deletion was more strongly associated with seminoma TGCT than with nonseminoma TGCT. Thus, the Y microdeletion gr/gr appears to be a rare, low penetrance allele that confers susceptibility to TGCT.
Molecular Genetics
### Variation in the BCL10 Gene and Progression to Advanced Stage TGCT
Inoue et al. (2006) analyzed 4 SNPs in the BCL10 gene on chromosome 1p22, which had previously been identified in Japanese TGCTs by Kakinuma et al. (2001), in 73 TGCT patients and 72 controls. No significant difference in any of the 4 SNPs was observed between patients and controls. However, GCT patients with metastatic disease were more likely than patients with only local disease to carry a minor allele of either of 2 SNPs in exon 1: 13G-T (A5S; adjusted odds ratio, 6.25, and p = 0.040) or 24C-G (L8L; adjusted odds ratio, 4.63 and p = 0.015). Inoue et al. (2006) concluded that these BCL10 polymorphisms in exon 1 might play a role in progression to advanced stage TGCTs.
### Somatic Mutation in the BLC10 Gene on Chromosome 1p22
Willis et al. (1999) analyzed 3 male germ cell tumor lines (Tera1, Tera2, and GCT44) and identified 2, 3, and 1 mutations in the BCL10 gene (603517), respectively (see, e.g., 603517.0001, 603517.0016, and 603517.0017).
Fakruddin et al. (1999) sequenced BCL10 in the 3 GCT cell lines previously studied by Willis et al., 1999 but found no mutations. Fakruddin et al. (1999) noted that their data were at variance with the results reported by Willis et al. (1999), and concluded that BCL10 is not a target tumor suppressor gene at 1p22 in GCTs.
Van Schothorst et al. (1999) screened exons 2 and 3 of the BCL10 gene in a series of TGCT-derived and related cell lines, including the 3 GCT cell lines previously studied by Willis et al., 1999, as well as primary tumors. No aberrations were detected by SSCP on genomic DNA or restriction endonuclease digestion analysis of PCR-amplified fragments, and van Schothorst et al. (1999) concluded that inactivation of BCL10 by genomic events in TGCTs is not involved in the majority of cases, if at all.
Lee et al. (1999) analyzed the BCL10 gene by PCR-SSCP using DNA extracted from malignant and normal cells of 439 paraffin-embedded tumor tissue samples, including 78 GCTs. Enrichment and direct sequencing of aberrantly migrating bands led to the identification of somatic mutations in 2 (2.6%) of the 78 TGCTs (both were mature teratomas; see, e.g., 603517.0018). Lee et al. (1999) concluded that BCL10 may occasionally be involved in the pathogenesis of TGCTs, but that the absence or low frequency of mutation suggested that either BCL10 is inactivated by other mechanisms or that it is not the only target of chromosome 1p22 deletion in human tumors.
Kakinuma et al. (2001) found loss of heterozygosity at chromosome 1p in 21 (42%) of 49 Japanese TGCTs, including 12 (43%) of 28 seminomas and 8 (38%) of 21 nonseminomatous GCTs. No somatic mutations were identified by SSCP and direct sequencing in any of the tumors, although 4 SNPs were detected.
### Somatic Mutation in the FGFR3 Gene on Chromosome 4p16
Goriely et al. (2009) screened 30 spermatocytic seminomas for oncogenic mutations in 17 genes and identified a K650E mutation in FGFR3 (134934.0004) in 2 tumors.
### Somatic Mutation in the KIT Gene on Chromosome 4q12
Tian et al. (1999) identified an asp816-to-his mutation in the KIT gene (164920.0021) in primary tissue samples from patients with germ cell tumors.
### Somatic Mutation in the BRAF Gene on Chromosome 7q34
Sommerer et al. (2005) analyzed the BRAF gene (164757) in 30 seminomas and 32 nonseminomatous GCTs with a mixture of embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mature teratoma. The activating BRAF missense mutation 1796T-A (164757.0001) was identified in 3 (9%) of 32 nonseminomatous tumors, within the embryonic carcinoma component; no BRAF mutations were found in the seminomas. There was no correlation between BRAF mutation status and tumor stage or grade or other histopathologic factors.
### Somatic Mutation in the HRAS Gene on Chromosome 11p15.5
Goriely et al. (2009) screened 30 spermatocytic seminomas for oncogenic mutations in 17 candidate genes and identified apparent homozygosity for 5 mutations in the HRAS gene (190020), 3 182A-G transitions and 2 181C-A transversions, all involving the Q61 codon (see, e.g., 190020.0002).
### Somatic Mutation in the KRAS Gene on Chromosome 12p12
Sommerer et al. (2005) analyzed the KRAS gene (190070) in 30 seminomas and 32 nonseminomatous GCTs with a mixture of embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mature teratoma. KRAS mutations, all involving codon 12, were identified in 2 (7%) of 30 seminomas and 3 (9%) of 32 nonseminomas. The KRAS mutations in the nonseminomas occurred within the embryonal carcinoma component in 2 and within the choriocarcinoma in 1. No correlation between KRAS mutation pattern and histopathologic variables was observed.
### Somatic Mutation in the STK11 Gene on Chromosome 19p13
Avizienyte et al. (1998) identified a somatic gly163-to-asp mutation in the STK11 gene (602216.0011) in a case of sporadic testicular carcinoma.
### Exclusion Studies
Murty et al. (1996) excluded 4 genes on chromosome 12q22 as candidates for familial testicular cancer: mast cell growth factor (184745), B-cell translocation gene-1 (109580), thymopoietin (188380), and neural precursor cell expressed, developmentally down-regulated-1 (600372).
Animal Model
In laboratory mice, testicular germ cell tumors (TGCTs) arise from primordial germ cells (PGC) in only the inbred 129 strain, and susceptibility is under multigenic control (Stevens and Hummel, 1957). The spontaneously arising mutation Ter (Stevens, 1973) on mouse chromosome 18 (Asada et al., 1994; Sakurai et al., 1994) increases TGCT frequency on a 129/Sv background.
Inbred 129 strain mice are predisposed to developing male germ cell tumors (GCTs) of the testes. GTC incidence is increased in 129 strain males that lack functional p53 protein (191170). Muller et al. (2000) used this finding to facilitate the generation of panels of GCT-bearing intercross and backcross mice for genetic mapping analysis. A 129 strain locus, designated pgct1, that segregated with the male GCT phenotype was identified on mouse chromosome 13 near D13Mit188. This region of mouse chromosome 13 may have conservation of synteny with a portion of human chromosome 5q that is implicated in male GCT susceptibility in humans.
Youngren et al. (2005) reported the positional cloning of Ter, revealing a point mutation that introduces a termination codon in the mouse Dnd1 gene (609385). PGC deficiency was corrected both with BACs containing Dnd1 and with a Dnd1-encoding transgene. Dnd1 is expressed in fetal gonads during the critical period when TGCTs originate. Dnd1 has an RNA recognition motif and is most similar to the apobec (see 600130) complementation factor, a component of the cytidine to uridine RNA editing complex. These results suggested that Ter may adversely affect essential aspects of RNA biology during PGC development. Youngren et al. (2005) stated that Dnd1 was the first protein known to have an RNA recognition motif directly implicated as a heritable cause of spontaneous tumorigenesis, and they suggested that TGCT development in the 129-Ter mouse strain models pediatric TGCTs in humans.
Collin et al. (1996), in a genome scan of tumor-bearing progeny from backcrosses between the 129/Sv-Ter/+ and MOLF/Ei strains provided modest evidence that MOLF-derived alleles on mouse chromosome 19 enhance development of bilateral TGCTs. To obtain independent evidence for linkage to the MOLF chromosome, Matin et al. (1999) made an autosomal chromosome substitution strain (a so-called consomic strain, or CSS), in which chromosome 19 of 129/Sv +/+ was replaced by its MOLF-derived homolog. The unusually high frequency of TGCTs in this CSS (even in the absence of the Ter mutation) provided evidence confirming the genome survey results, identified linkage for a naturally occurring strain variant allele that confers susceptibility to TGCTs, and illustrated the power of CSSs in complex trait analysis.
The agouti (ASIP; 600201)-yellow (Ay) deletion is the only genetic modifier known to suppress testicular germ cell tumor (TGCT) susceptibility in mice or human. The Ay mutation deletes Raly and Eif2s2 (603908) and induces the ectopic expression of agouti, all of which are potential TGCT-modifying mutations. Heaney et al. (2009) reported that the reduced TGCT incidence of heterozygous Ay male mice and the recessive embryonic lethality of Ay are caused by the deletion of Eif2s2, the beta subunit of translation initiation factor eIF2. The incidence of affected males was reduced 2-fold in mice that were partially deficient for Eif2s2 and that embryonic lethality occurred near the time of implantation in mice that were fully deficient for Eif2s2. In contrast, neither reduced expression of Raly in gene-trap mice nor ectopic expression of agouti in transgenic or viable-yellow (Avy) mutants affected TGCT incidence or embryonic viability. Partial deficiency of Eif2s2 attenuated germ cell proliferation and differentiation, both of which are important to TGCT formation. Heaney et al. (2009) concluded that germ cell development and TGCT pathogenesis are sensitive to the availability of the eIF2 translation initiation complex and to changes in the rate of translation.
INHERITANCE \- Somatic mutation GENITOURINARY Internal Genitalia (Male) \- Painless testicular mass NEOPLASIA \- Male germ cell tumors (GCT), 2 subtypes - \- Seminoma \- Nonseminoma (embryonal carcinoma, teratoma, choriocarcinoma, endodermal sinus tumor) LABORATORY ABNORMALITIES \- Isochromosome 12p (i(12p)) \- Elevated hCG (choriocarcinoma) \- Elevated AFP (endodermal sinus tumor) \- Elevated hCG or AFP or both (embryonal carcinoma) \- Azoospermia/oligospermia (present at diagnosis) MISCELLANEOUS \- Two subtypes - seminoma and nonseminoma \- Occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) \- Most common cancer in men aged 15-40 years \- Highest incidence in men of European descent \- Risk factors for development of TGCT - family history, cryptorchidism ( 219050 ), testicular feminization ( 300068 ), Klinefelter syndrome, previous TGCT, gonadal dysgenesis ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[KOR]: κ-opioid receptor
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*[BMI]: body mass index
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
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*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
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*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
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*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
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*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
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*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
TESTICULAR GERM CELL TUMOR
|
c0238451
| 25,847 |
omim
|
https://www.omim.org/entry/273300
| 2019-09-22T16:21:55 |
{"doid": ["5557"], "mesh": ["C562472"], "omim": ["273300"], "orphanet": ["363483", "363504", "363494", "99865", "876", "842"], "synonyms": ["Alternative titles", "MALE GERM CELL TUMOR"]}
|
Cyclothymia
Other namesCyclothymic disorder
Graphical representation of cyclothymia compared with bipolar disorder and major depression
SpecialtyPsychiatry, clinical psychology
SymptomsPeriods of depression and elevated mood[1]
ComplicationsSuicide, self-harm[1]
CausesUnknown[2]
Risk factorsFamily history[3]
Differential diagnosisBipolar disorder, borderline personality disorder, substance misuse disorder[3]
TreatmentPsychotherapy, medications[4]
Frequency0.4-1% at some point in life[3]
Cyclothymia, also known as cyclothymic disorder, depressive-hypomaniac disorder, or Cyclothymic personality disorder, is a mental disorder that involves numerous periods of symptoms of depression and periods of symptoms of hypomania.[3] These symptoms, however, are not sufficient to be a major depressive episode or a hypomanic episode.[3] Symptoms must last for more than one year in children and two years in adults.[3]
The cause of cyclothymia is unknown.[2] Risk factors include a family history of bipolar disorder.[3] Cyclothymia differs from bipolar in that major depression, mania, or hypomania have never occurred.[3]
Treatment is generally with counseling and mood stabilizers such as lithium.[4] It is estimated that 0.4-1% of people have cyclothymia at some point in their life.[3] Onset is typically in late childhood to early adulthood.[3] Males and females are affected equally often.[3]
## Contents
* 1 Symptoms
* 1.1 Comorbidities
* 2 Causes
* 3 Diagnosis
* 4 Management
* 5 History
* 6 Epidemiology
* 7 Etymology
* 8 Research
* 9 Society and culture
* 10 See also
* 11 References
* 11.1 Cited sources
* 12 External links
## Symptoms[edit]
People with cyclothymia experience both depressive phases and hypomanic phases (which are less severe than a full hypomanic episode).[3] The depressive and manic symptoms in cyclothymia last for variable amounts of time due to the unstable and reactive nature of the disorder.[1] The depressive phases are similar to major depressive disorder and are characterized by dulled thoughts and sensations and the lack of motivation for intellectual or social activities.[1] Most people with cyclothymia are generally fatigued and tend to sleep frequently and for long periods of time.[1] However, other people experience insomnia.[1]
Other symptoms of cyclothymic depression include indifference toward people or activities that used to be extremely important.[1] Cyclothymic depression also leads to difficulty making decisions.[1] In addition, people with this condition tend to be critical and complain easily.[1] Suicidal thoughts are common, even in mild forms of cyclothymia.[1] In the depressive state, people with cyclothymia also experience physical complaints including frequent headaches, tightness in the head and chest, an empty sensation in the head, weakness, weight loss, and hair loss.[1]
The distinguishing factor between typical depression and cyclothymic depression is that in cyclothymic depression, there are instances of hypomania. People with cyclothymia can switch from the depressive state to the hypomanic state without warning to them or others. The duration and frequency of phases is unpredictable.[1]
In the hypomanic state, people's thoughts become faster and they become more sociable and talkative. They may engage in spending sprees, spontaneous actions, have heightened self-esteem, and greater vanity.[1] In contrast to a regular manic state that would be associated with bipolar I, symptoms in the hypomanic phase generally occur in a less severe form.[1]
### Comorbidities[edit]
Cyclothymia commonly occurs in conjunction with other disorders.[5] Between 20-50 percent of people with depression, anxiety, and related disorders also have cyclothymia.[4] When people with cyclothymia seek mental health resources it tends to be for symptoms of their comorbid condition rather than for their symptoms of cyclothymia. In children and adolescents, the most common comorbidities with cyclothymia are anxiety disorders, impulse control issues, eating disorders, and ADHD.[4] In adults, cyclothymia also tends to be comorbid with impulse control issues. Sensation-seeking behaviors occur in hypomanic states.[5] These often include gambling and compulsive sexuality in men, or compulsive buying and binge eating in women.[5]
In addition to sensation-related disorders, cyclothymia has also been associated with atypical depression. In one study, a connection was found between interpersonal sensitivity, mood reactivity (i.e., responding to actual or potential positive events with brighter mood), and cyclothymic mood swings,[5] all of which are symptoms of atypical depression. Cyclothymia also tends to occur in conjunction with separation anxiety, where a person has anxiety as a result of separation from a caregiver, friend, or loved one. Other issues that tend to co-occur with cyclothymia include social anxiety, fear of rejection and a tendency toward hostility to those connected with past pain and rejection. People with cyclothymia tend to seek intense interpersonal relationships when in a hypomanic state and isolation when in a depressed state.[5] This generally leads to short, tumultuous relationships.[5]
## Causes[edit]
The cause is unknown.[2] Risk factors include a family history of bipolar disorder.[3]
First-degree relatives of people with cyclothymia have major depressive disorder, bipolar I disorder, and bipolar II disorder more often than the general population. Substance-related disorders also may be at a higher risk within the family. First-degree relatives of a bipolar I individuals may have a higher risk of cyclothymic disorder than the general population.[6]
## Diagnosis[edit]
Cyclothymia is classified in DSM-5 as a subtype of bipolar disorder. The criteria are:[7]
1. Periods of elevated mood and depressive symptoms for at least half the time during the last two years for adults and one year for children and teenagers.
2. Periods of stable moods last only two months at most.
3. Symptoms create significant problems in one or more areas of life.
4. Symptoms do not meet the criteria for bipolar disorder, major depression, or another mental disorder.
5. Symptoms are not caused by substance use or a medical condition.
The DSM-5 criteria for cyclothymia are restrictive according to some researchers.[5] This affects the diagnosis of cyclothymia because fewer people get diagnosed than potentially could.[5] This means that a person who has some symptoms of the disorder might not be able to get treatment because they do not meet all of the necessary criteria described in DSM-5.[5] Furthermore, it also leads to more attention being placed on depression and other bipolar-spectrum disorders because if a person does not meet all the criteria for cyclothymia they are often given a depression or bipolar spectrum diagnosis.[5] Improper diagnosis may lead some people with cyclothymia to be treated for a comorbid disorder rather than having their cyclothymic tendencies addressed.[5]
Cyclothymia is often not recognized by the affected individual or medical professionals due to its ostensibly mild symptoms. In addition, it is difficult to identify and classify. Due to disagreement and misconceptions among health and mental health professionals, cyclothymia is often diagnosed as "bipolar not otherwise specified". Cyclothymia is also often confused with borderline personality disorder due to their similar symptoms,[8] especially in older adolescents and young adults.[medical citation needed]
Most people with the disorder present in a depressive state, not realizing that their hypomanic states are abnormal.[1] Mild manic episodes tend to be interpreted as part of the person's personality or simply a heightened mood. In addition, the disorder often manifests during childhood or adolescence, making it even more difficult for the person to distinguish between symptoms of the disorder and their personality. For example, people may think that they just suffer from mood swings and not realize that these are a result of a psychiatric condition.[5]
## Management[edit]
Cognitive behavioral therapy (CBT) is considered potentially effective for people diagnosed with cyclothymia.[4]
Medication can be used in addition to behavioral approaches. However, mood stabilizers should be used before antidepressants, and if antidepressants are used they should be used with caution.[4] Antidepressants are a concern due to the possibility of inducing hypomanic switches or rapid cycling.[4]
## History[edit]
In 1883, Karl Ludwig Kahlbaum identified a disorder characterized by recurring mood cycles. The disorder contained both melancholic and manic episodes that occurred in a milder form than in bipolar disorder.[9] This condition was coined "cyclothymia" by Kahlbaum and his student Ewald Hecker.[1] Kahlbaum developed his theory of cyclothymia through his work with people presenting with these symptoms at the Kahlbaum Sanitarium in Goerlitz, Silesia (Germany).[1] He was recognized as a leading hypnotherapist and psychotherapist of his day.[1] He was a progressive in the field of mental health, believing that mental illness should not carry a stigma and that people dealing with mental health issues should be treated humanely.[1] Kalhbaum was the first to recognize that people with cyclothymia often do not seek help for the disorder due to its mild symptoms.[1]
Cyclothymia has been conceptualized in a variety of ways, including as a subtype of bipolar disorder, a temperament, a personality trait, and a personality disorder.[10] There is also an argument that cyclothymia should be considered a neurodevelopmental disorder.[4] The two defining features of the disorder, according to DSM-5, are the presence of depressive and hypomanic symptoms, not meeting the threshold for a depressive or hypomanic episode. Cyclothymia is also classified as a subtype of bipolar disorder in DSM-5, but some researchers disagree with this classification and argue that it should be primarily defined as an exaggeration of mood and emotional instability.[5] In the past, cyclothymia has been conceptualized to include other characteristics in addition to the flux between depression and hypomania, such as mood reactivity, impulsivity, and anxiety.[5]
## Epidemiology[edit]
Cyclothymia, known today as cyclothymic disorder, tends to be underdiagnosed due to its low intensity.[5] The exact rates for cyclothymia have not been widely studied.[5] Some studies estimate that between 5 and 8% are affected at some point in their life whereas other studies suggest a rate ranging from 0.4 to 2.5%.[5]
Males appear to be affected equally often,[3] though women are more likely to receive treatment.[5] Cyclothymia is diagnosed in around fifty percent of people with depression who are evaluated in psychiatric outpatient settings.[5]
## Etymology[edit]
Cyclothymia is derived from the Greek word κυκλοθυμία (from κῦκλος kyklos, "circle"[11] and θυμός thymos, "mood, emotion").[12] Therefore, it means "to cycle or circle between moods or emotions".
## Research[edit]
Whether subtypes of bipolar disorder, such as cyclothymia, truly represent separate disorders or are part of a unique bipolar spectrum is debated in research. Cyclothymia is typically not described in research studies or diagnosed in clinical settings, making it less recognizable and less understood by professionals. This absence of cyclothymia in research and clinical settings suggests that cyclothymia is either being diagnosed as another mood disorder or as a non-affective psychiatric disorder or not coming to scientific or clinical attention[13] due to a lack of diagnostic clarity or because the nature of cyclothymia is still highly contested. Additionally, the current diagnostic criterion for cyclothymia emphasizes that symptoms are persistent, which suggests that they are enduring traits rather than a psychological state, thus, it has been argued that it should be diagnosed as a personality disorder. Since the symptoms tend to overlap with personality disorders, the validity and distinction between these two diagnostic categories has been debated.[14]
Lastly, the tendency of cyclothymia to be comorbid with other mental disorders makes diagnosis difficult.[13] These issues prevent consensus on the definition of cyclothymia and its relationship with other mental disorders among researchers and clinicians. This lack of consensus on an operational definition and symptom presentation is especially pronounced with children and adolescents because the diagnostic criteria have not been adequately adapted to take into account their developmental level.[15]
## Society and culture[edit]
Actor Stephen Fry has spoken about his experience with cyclothymia, which was depicted in the documentary Stephen Fry: The Secret Life of the Manic Depressive.[16]
Singer Charlene Soraia had cyclothymia and wrote a song about her experiences with the disorder.[17]
## See also[edit]
* Bipolar disorder
* Borderline personality disorder
* Dysthymia
* Emotional dysregulation
* Euthymia
* List of people with bipolar disorder
* Mood (psychology)
* Mood swing
* Ultradian bipolar disorder
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t Koukopoulos, A (January 2003). "Ewald Hecker's description of cyclothymia as a cyclical mood disorder: its relevance to the modern concept of bipolar II". Journal of Affective Disorders. 73 (1–2): 199–205. doi:10.1016/S0165-0327(02)00326-9. PMID 12507752.
2. ^ a b c "Cyclothymia". nhs.uk. 2017-10-18. Retrieved 20 May 2018.
3. ^ a b c d e f g h i j k l m n American Psychiatric Association (2013), Diagnostic and Statistical Manual of Mental Disorders (5th ed.), Arlington: American Psychiatric Publishing, pp. 139–141, ISBN 978-0890425558
4. ^ a b c d e f g h Perugi, G; Hantouche, E; Vannucchi, G (April 2017). "Diagnosis and Treatment of Cyclothymia: The "Primacy" of Temperament". Current Neuropharmacology. 15 (3): 372–379. doi:10.2174/1570159X14666160616120157. PMC 5405616. PMID 28503108.
5. ^ a b c d e f g h i j k l m n o p q r s Perugi, G; Hantouche, E; Vannucchi, G; Pinto, O (1 September 2015). "Cyclothymia reloaded: A reappraisal of the most misconceived affective disorder". Journal of Affective Disorders. 183: 119–33. doi:10.1016/j.jad.2015.05.004. PMID 26005206.
6. ^ DSM-5 (2013), Risk and Prognostic Factors, p. 141 harvp error: no target: CITEREFDSM-52013 (help)
7. ^ Diagnostic and statistical manual of mental disorders : DSM-5 (5th ed.). Washington, D.C.: American Psychiatric Association. 2013. ISBN 978-0-89042-554-1.
8. ^ Kaplan & Sadock’s Comprehensive Textbook of Psychiatry (2017), 13.1 Mood Disorders: Historical Introduction and Conceptual Overview => Dysthymia and Cyclothymia. "It is not always easy to demarcate full-blown syndromal episodes of depression and mania from their subthreshold counterparts commonly observed during the interepisodic periods. The subthreshold conditions appear to be fertile terrain for interpersonal conflicts and postaffective pathological character developments that may ravage the lives of patients and their families. In North America and some Western European countries many such patients end up being labeled with borderline personality disorder, which, unfortunately, often tends to obscure the affective origin of the presenting psychopathology."
9. ^ Commentary on Hecker and his work: Baethge, C; Salvatore, P; Baldessarini, RJ (September 2003). "Cyclothymia, a circular mood disorder". History of Psychiatry. 14 (55 Pt 3): 377–390. doi:10.1177/0957154X030143008. PMID 14621693. New translation of Hecker's 1898 paper: Hecker, Ewald; Salvatore, P; Baldessarini, R. J. (September 2003). "Classic Text No 55: Cyclothymia, a Circular Mood Disorder by Hecker, 1898". History of Psychiatry. 14 (55 Pt 3): 391–399. doi:10.1177/0957154X030143008. PMID 14621693.
10. ^ Parker, G; McCraw, S; Fletcher, K (June 2012). "Cyclothymia". Depression and Anxiety. 29 (6): 487–94. doi:10.1002/da.21950. PMID 22553122.
11. ^ κύκλος, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
12. ^ θυμός, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
13. ^ a b Danner, Stephanie; Mary A. Fristad; L. Eugene Arnold; Eric A. Youngstrom; Boris Birmaher; Sarah M. Horwitz; Christine Demeter; Robert L. Findling; Robert A. Kowatch (2009). "Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues". Clinical Child and Family Psychology Review. 12 (3): 271–93. doi:10.1007/s10567-009-0055-2. PMC 3575107. PMID 19466543.
14. ^ Sass, H.; Juneman, K. (2003). "Affective disorders, personality and personality disorders". Acta Psychiatr Scand. 108 (418): 34–40. doi:10.1034/j.1600-0447.108.s418.8.x. PMID 12956812.
15. ^ Avenevoli, Shelli (2009). "Bipolar Disorder in Children and Adolescents: New Data to Inform Classification". NIMH. Archived from the original on 27 April 2018. Retrieved 26 April 2018.
16. ^ "Stephen Fry: The Secret Life of the Manic Depressive (but I have cyclothymia)". BBC \- Health. Archived from the original on 2010-01-12. Retrieved 2018-12-21.
17. ^ Copsey, Robert. "Ones to watch: Charlene Soraia". London: Digital Spy. Retrieved 21 December 2018.
### Cited sources[edit]
* Sadock, Benjamin; Sadock, Virginia; Ruiz, Pedro, eds. (2017). "13. Mood Disorders". Kaplan and Sadock's Comprehensive Textbook of Psychiatry (10th ed.). New York: Wolters Kluwer.
## External links[edit]
Classification
D
* ICD-10: F34.0
* MeSH: D003527
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
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Other
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Intellectual disability
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* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
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Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
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* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
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Neurological and symptomatic
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Other
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Phobia
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Desire
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Orgasm
* Anorgasmia
* Delayed ejaculation
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Pain
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Psychoactive substances, substance abuse and substance-related
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Mood disorder
History
* Emil Kraepelin
* Karl Leonhard
* John Cade
* Mogens Schou
* Frederick K. Goodwin
* Kay Redfield Jamison
Symptoms
* Hallucination
* Delusion
* Emotional dysregulation
* Anhedonia
* Dysphoria
* Suicidal ideation
* Mood swing
* Sleep disorder
* Hypersomnia
* Insomnia
* Psychosis
* Racing thoughts
* Reduced affect display
* Depression (differential diagnoses)
Spectrum
* Bipolar disorder
* Bipolar I
* Bipolar II
* Cyclothymia
* Bipolar NOS
* Depression
* Major depressive disorder
* Dysthymia
* Seasonal affective disorder
* Atypical depression
* Melancholic depression
* Schizoaffective disorder
* Mania
* Mixed affective state
* Hypomania
* Major depressive episode
* Rapid cycling
Treatment
Anticonvulsants
* Carbamazepine
* Lamotrigine
* Oxcarbazepine
* Valproate
* Sodium valproate
* Valproate semisodium
Sympathomimetics,
SSRIs and similar
* Dextroamphetamine
* Methylphenidate
* Bupropion
* Sertraline
* Fluoxetine
* Escitalopram
Other mood stabilizers
* Antipsychotics
* Lithium
* Lithium carbonate
* Lithium citrate
* Lithium sulfate
* Lithium toxicity
* Atypical antipsychotics
Non-pharmaceutical
* Clinical psychology
* Electroconvulsive therapy
* Involuntary commitment
* Light therapy
* Psychotherapy
* Transcranial magnetic stimulation
* Cognitive behavioral therapy
* Dialectical behavior therapy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cyclothymia
|
c0010598
| 25,848 |
wikipedia
|
https://en.wikipedia.org/wiki/Cyclothymia
| 2021-01-18T19:05:00 |
{"mesh": ["D003527"], "umls": ["C0010598"], "wikidata": ["Q245590"]}
|
Melasma
SpecialtyDermatology
Melasma (also known as chloasma faciei,[1]:854 or the mask of pregnancy[2] when present in pregnant women) is a tan or dark skin discoloration. Melasma is thought to be caused by sun exposure, genetic predisposition, hormone changes, and skin irritation.[3] Although it can affect anyone, melasma is particularly common in women, especially pregnant women and those who are taking oral or patch contraceptives or hormone replacement therapy (HRT) medications.[3]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
The symptoms of melasma are dark, irregular well demarcated hyperpigmented macules to patches. These patches often develop gradually over time. Melasma does not cause any other symptoms beyond the cosmetic discoloration.[4] Patches can vary in size from 0.5 cm to larger than 10 cm depending on the person. The location of melasma can be categorized as centrofacial, malar, or mandibular. The most common is centrofacial in which patches appear on the cheeks, nose, upper lip, forehead, and chin. The mandibular category accounts for patches on the bilateral rami, while the malar location accounts for patches only on the nose and cheeks.[5]
## Cause[edit]
Melasma is thought to be the stimulation of melanocytes (cells in the dermal layer which transfer a pigment called melanin to the keratinocytes of skin) when the skin is exposed to ultraviolet light from the sun. Small amounts of sun exposure can make melasma return to the skin after it has faded, which is why people with melasma often get it again and again, particularly in the summer.[3]
Pregnant women often get melasma, or chloasma, known as the mask of pregnancy. Birth control pills and hormone replacement medicine also can trigger melasma. The discoloration usually disappears spontaneously over a period of several months after giving birth or stopping the oral contraceptives or hormone replacement therapy.[3]
Genetic predisposition is also a major factor in determining whether someone will develop melasma. People with the Fitzpatrick skin type III or greater from African, Asian, or Hispanic descent are at a much higher risk than others.[5] In addition women with a light brown skin type who are living in regions with intense sun exposure are particularly susceptible to developing this condition.[6]
The incidence of melasma also increases in patients with thyroid disease.[7] It is thought that the overproduction of melanocyte-stimulating hormone (MSH) brought on by stress can cause outbreaks of this condition. Other rare causes of melasma include allergic reaction to medications and cosmetics.
Melasma Suprarenale (Latin - above the kidneys) is a symptom of Addison's disease, particularly when caused by pressure or minor injury to the skin, as discovered by Dr. FJJ Schmidt of Rotterdam in 1859.
## Diagnosis[edit]
There are two different kinds of melasma, epidermal and dermal. Epidermal melasma results from melanin pigment that is elevated in the suprabasal layers of the epidermis. Dermal melasma occurs when the dermal macrophages have an elevated melanin level.[8] Melasma is usually diagnosed visually or with assistance of a Wood's lamp (340 - 400 nm wavelength).[9] Under Wood's lamp, excess melanin in the epidermis can be distinguished from that of the dermis. This is done by looking at how dark the melasma appears, dermal melasma will appear darker than epidermal melasma under the Wood's lamp.[8]
### Differential diagnosis[edit]
* Post inflammatory hyperpigmentation
* Actinic lichen planus
* Hydroquinone-induced exogenous ochronosis (see Ochronosis#Treatments of Exogenous Ochronosis)
## Treatment[edit]
Doctor performing treatment for melasma with KTP laser
Assessment by a dermatologist will help guide treatment. Treatments to hasten the fading of the discolored patches include:
* Topical depigmenting agents, such as hydroquinone (HQ) either in over-the-counter (2%) or prescription (4%) strength.[10] HQ is a chemical that inhibits tyrosinase, an enzyme involved in the production of melanin.
* Tretinoin,[11] an acid that increases skin cell (keratinocyte) turnover. This treatment is not used during pregnancy due to risk of harm to the fetus.
* Azelaic acid (20%), thought to decrease the activity of melanocytes.[3]
* Tranexamic acid by mouth has shown to provide rapid and sustained lightening in melasma by decreasing melanogenesis in epidermal melanocytes.
* Cysteamine hydrochloride (5%) over-the-counter.[12][13] Mechanism of action seems to involve inhibition of melanin synthesis pathway[14]
* Kojic acid (2%) over-the-counter.[5]
* Flutamide (1%)[15]
* Chemical peels[16]
* Microdermabrasion to dermabrasion (light to deep)[17]
* Galvanic or ultrasound facials with a combination of a topical crème/gel. Either in an aesthetician's office or as a home massager unit.
* Laser but not IPL (IPL can make the melasma darker)
Evidence-based reviews found that the most effective therapy for melasma includes a combination of topical agents.[11][10] Triple combination creams formulated with hydroquinone, tretinoin and a steroid component have shown to be more effective than dual combination therapy or hydroquinone alone.[18] More recently, a systematic review found that oral medications also have a role in melasma treatment, and have been shown to be efficacious with a minimal number and severity of adverse events. Oral medications and dietary supplements employed in the treatment of melasma include tranexamic acid, Polypodium leucotomos extract, beta‐carotenoid, melatonin, and procyanidin.[19] Oral procyanidin combined with vitamins A, C, and E shows promise as safe and effective for epidermal melasma. In an 8-week randomized, double-blind, placebo-controlled trial in 56 Filipino women, treatment was associated with significant improvements in the left and right malar regions, and was safe and well tolerated.[20]
In all of these treatments the effects are gradual and a strict avoidance of sunlight is required. The use of broad-spectrum sunscreens with physical blockers, such as titanium dioxide and zinc dioxide is preferred.[21] This is because UV-A, UV-B and visible lights are all capable of stimulating pigment production.
There are many negative side effects that go along with these treatments and many times treatments are unsatisfying overall. Things such as scarring, irritation, lighter patches of skin, and contact dermatitis are all commonly seen to occur.[8]
Patients should avoid other precipitants including hormonal triggers.
Cosmetic camouflage can also be used to hide melasma.
## See also[edit]
* Linea nigra
* Hyperpigmentation in Addison's disease
* 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. ^ Tunzi, M; Gray, GR (January 2007). "Common skin conditions during pregnancy". Am Fam Physician. 75 (2): 211–18. PMID 17263216.
3. ^ a b c d e "Melasma | American Academy of Dermatology". www.aad.org. Retrieved 2016-02-25.
4. ^ "Melasma | American Academy of Dermatology". www.aad.org. Retrieved 2016-02-25.
5. ^ a b c Arndt, Kenneth A., 1936- (2014-02-05). Manual of dermatologic therapeutics. Hsu, Jeffrey T. S. (Eighth ed.). [Place of publication not identified]. ISBN 978-1-4698-7200-1. OCLC 953864747.CS1 maint: multiple names: authors list (link)
6. ^ "Melasma | American Academy of Dermatology". www.aad.org. Retrieved 2016-02-25.
7. ^ Lutfi, R. J.; Fridmanis, M; Misiunas, A. L.; Pafume, O; Gonzalez, E. A.; Villemur, J. A.; Mazzini, M. A.; Niepomniszcze, H (1985). "Association of melasma with thyroid autoimmunity and other thyroidal abnormalities and their relationship to the origin of the melasma". The Journal of Clinical Endocrinology and Metabolism. 61 (1): 28–31. doi:10.1210/jcem-61-1-28. PMID 3923030.
8. ^ a b c Evidence-based dermatology. Williams, Hywel C.,, Bigby, Michael E. (Third ed.). Chichester, West Sussex. 2014-06-05. ISBN 978-1-118-35762-0. OCLC 867001321.CS1 maint: others (link)
9. ^ "Melasma | American Academy of Dermatology". www.aad.org. Retrieved 2016-02-25.
10. ^ a b Jutley, Gurpreet Singh; Rajaratnam, Ratna; Halpern, James; Salim, Asad; Emmett, Charis (2014-02-01). "Systematic review of randomized controlled trials on interventions for melasma: an abridged Cochrane review". Journal of the American Academy of Dermatology. 70 (2): 369–373. doi:10.1016/j.jaad.2013.07.044. ISSN 1097-6787. PMID 24438951.
11. ^ a b Rivas, Shelly; Pandya, Amit G. (2013-10-01). "Treatment of melasma with topical agents, peels and lasers: an evidence-based review". American Journal of Clinical Dermatology. 14 (5): 359–376. doi:10.1007/s40257-013-0038-4. ISSN 1179-1888. PMID 23881551.
12. ^ Mansouri, P.; Farshi, S.; Hashemi, Z.; Kasraee, B. (2015-07-01). "Evaluation of the efficacy of cysteamine 5% cream in the treatment of epidermal melasma: a randomized double-blind placebo-controlled trial". British Journal of Dermatology. 173 (1): 209–217. doi:10.1111/bjd.13424. ISSN 1365-2133. PMID 25251767.
13. ^ Bleehen, S. S.; Pathak, M. A.; Hori, Y.; Fitzpatrick, T. B. (1968-02-01). "Depigmentation of skin with 4-isopropylcatechol, mercaptoamines, and other compounds". The Journal of Investigative Dermatology. 50 (2): 103–117. doi:10.1038/jid.1968.13. ISSN 0022-202X. PMID 5641641.
14. ^ Qiu, L.; Zhang, M.; Sturm, R. A.; Gardiner, B.; Tonks, I.; Kay, G.; Parsons, P. G. (2000-01-01). "Inhibition of melanin synthesis by cystamine in human melanoma cells". The Journal of Investigative Dermatology. 114 (1): 21–27. doi:10.1046/j.1523-1747.2000.00826.x. ISSN 0022-202X. PMID 10620110.
15. ^ Adalatkhah, Hassan; Sadeghi-Bazargani, Homayoun (2015-01-01). "The first clinical experience on efficacy of topical flutamide on melasma compared with topical hydroquinone: a randomized clinical trial". Drug Design, Development and Therapy. 9: 4219–4225. doi:10.2147/DDDT.S80713. ISSN 1177-8881. PMC 4531037. PMID 26345129.
16. ^ Chaudhary, Savita; Dayal, Surabhi (2013-10-01). "Efficacy of combination of glycolic acid peeling with topical regimen in treatment of melasma". Journal of Drugs in Dermatology. 12 (10): 1149–1153. ISSN 1545-9616. PMID 24085051.
17. ^ "Melasma: Diagnosis and treatment". www.aad.org. Retrieved 2020-10-19.
18. ^ Rajaratnam, Ratna; Halpern, James; Salim, Asad; Emmett, Charis (2010-07-07). "Interventions for melasma". Cochrane Database of Systematic Reviews (7): CD003583. doi:10.1002/14651858.CD003583.pub2. ISSN 1465-1858. PMID 20614435.
19. ^ Zhou, Linghong Linda; Baibergenova, Akerke (2017-09-01). "Melasma: systematic review of the systemic treatments". International Journal of Dermatology. 56 (9): 902–908. doi:10.1111/ijd.13578. ISSN 1365-4632. PMID 28239840.
20. ^ Handog, Evangeline (2009-07-20). "A randomized, double-blind, placebo-controlled trial of oral procyanidin with Vitamins A, C, E for melasma among Filipino women". International Journal of Dermatology. 48 (8): 896–901. doi:10.1111/j.1365-4632.2009.04130.x. PMID 19659873.
21. ^ "Melasma: Tips for managing". www.aad.org. Retrieved 2020-10-19.
## External links[edit]
Classification
D
* ICD-10: L81.1
* ICD-9-CM: 709.09
* MeSH: D008548
* DiseasesDB: 2402
* SNOMED CT: 36209000
External resources
* MedlinePlus: 000836
* eMedicine: derm/260
* Patient UK: Melasma
* DermNet colour/melasma
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
Pigmentation disorders/Dyschromia
Hypo-/
leucism
Loss of
melanocytes
Vitiligo
* Quadrichrome vitiligo
* Vitiligo ponctué
Syndromic
* Alezzandrini syndrome
* Vogt–Koyanagi–Harada syndrome
Melanocyte
development
* Piebaldism
* Waardenburg syndrome
* Tietz syndrome
Loss of melanin/
amelanism
Albinism
* Oculocutaneous albinism
* Ocular albinism
Melanosome
transfer
* Hermansky–Pudlak syndrome
* Chédiak–Higashi syndrome
* Griscelli syndrome
* Elejalde syndrome
* Griscelli syndrome type 2
* Griscelli syndrome type 3
Other
* Cross syndrome
* ABCD syndrome
* Albinism–deafness syndrome
* Idiopathic guttate hypomelanosis
* Phylloid hypomelanosis
* Progressive macular hypomelanosis
Leukoderma w/o
hypomelanosis
* Vasospastic macule
* Woronoff's ring
* Nevus anemicus
Ungrouped
* Nevus depigmentosus
* Postinflammatory hypopigmentation
* Pityriasis alba
* Vagabond's leukomelanoderma
* Yemenite deaf-blind hypopigmentation syndrome
* Wende–Bauckus syndrome
Hyper-
Melanin/
Melanosis/
Melanism
Reticulated
* Dermatopathia pigmentosa reticularis
* Pigmentatio reticularis faciei et colli
* Reticulate acropigmentation of Kitamura
* Reticular pigmented anomaly of the flexures
* Naegeli–Franceschetti–Jadassohn syndrome
* Dyskeratosis congenita
* X-linked reticulate pigmentary disorder
* Galli–Galli disease
* Revesz syndrome
Diffuse/
circumscribed
* Lentigo/Lentiginosis: Lentigo simplex
* Liver spot
* Centrofacial lentiginosis
* Generalized lentiginosis
* Inherited patterned lentiginosis in black persons
* Ink spot lentigo
* Lentigo maligna
* Mucosal lentigines
* Partial unilateral lentiginosis
* PUVA lentigines
* Melasma
* Erythema dyschromicum perstans
* Lichen planus pigmentosus
* Café au lait spot
* Poikiloderma (Poikiloderma of Civatte
* Poikiloderma vasculare atrophicans)
* Riehl melanosis
Linear
* Incontinentia pigmenti
* Scratch dermatitis
* Shiitake mushroom dermatitis
Other/
ungrouped
* Acanthosis nigricans
* Freckle
* Familial progressive hyperpigmentation
* Pallister–Killian syndrome
* Periorbital hyperpigmentation
* Photoleukomelanodermatitis of Kobori
* Postinflammatory hyperpigmentation
* Transient neonatal pustular melanosis
Other
pigments
Iron
* Hemochromatosis
* Iron metallic discoloration
* Pigmented purpuric dermatosis
* Schamberg disease
* Majocchi's disease
* Gougerot–Blum syndrome
* Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
* Lichen aureus
* Angioma serpiginosum
* Hemosiderin hyperpigmentation
Other
metals
* Argyria
* Chrysiasis
* Arsenic poisoning
* Lead poisoning
* Titanium metallic discoloration
Other
* Carotenosis
* Tar melanosis
Dyschromia
* Dyschromatosis symmetrica hereditaria
* Dyschromatosis universalis hereditaria
See also
* Skin color
* Skin whitening
* Tanning
* Sunless
* Tattoo
* removal
* Depigmentation
* v
* t
* e
Pregnancy and childbirth
Planning
* Birth control
* Natural family planning
* Pre-conception counseling
Conception
* Assisted reproductive technology
* Artificial insemination
* Fertility medication
* In vitro fertilisation
* Fertility awareness
* Unintended pregnancy
Testing
* 3D ultrasound
* Obstetric ultrasonography
* Pregnancy test
* Home testing
* Prenatal diagnosis
Prenatal
Anatomy
* Amniotic fluid
* Amniotic sac
* Endometrium
* Placenta
Development
* Fundal height
* Gestational age
* Human embryogenesis
* Maternal physiological changes
* Postpartum physiological changes
Care
* Nutrition
* Environmental toxicants
* In pregnancy
* Prenatal
* Concomitant conditions
* Drinking
* Diabetes mellitus
* Smoking
* Vaping
* SLE
* Sexual activity during pregnancy
Procedures
* Amniocentesis
* Cardiotocography
* Chorionic villus sampling
* Nonstress test
* Abortion
Childbirth
Preparation
* Bradley method
* Hypnobirthing
* Lamaze
* Nesting instinct
Roles
* Doula
* Birth attendant
* Men's roles
* Midwife
* Obstetrician
* Perinatal nurse
* Traditional birth attendant
Delivery
* Bloody show
* Childbirth positions
* Home birth
* Multiple birth
* Natural childbirth
* Pelvimetry / Bishop score
* Cervical dilation
* Cervical effacement
* Position
* Presentation
* Breech
* Cephalic
* Shoulder
* Rupture of membranes
* Unassisted childbirth
* Uterine contraction
* Water birth
Postpartum
Maternal
* Postpartum confinement
* Sex after pregnancy
* Psychiatric disorders of childbirth
* Postpartum physiological changes
Roles
* Doula
* Health visitor
* Lactation consultant
* Monthly nurse
* Confinement nanny
Infant
* Adaptation to extrauterine life
* Child care
* Congenital disorders
Obstetric history
* Gravidity and parity
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
* v
* t
* e
Infants and their care
Health (Pediatrics)
* Baby food
* Birth weight
* Breast pump
* Breastfeeding
* Breastfeeding and medications
* Bottle feeding
* Colic
* Immunizations
* Cradle cap
* Cross eyed
* Failure to thrive
* Immunization
* Infant and toddler safety
* Infant bathing
* Infant food safety
* Infant formula
* Infant massage
* Infant food safety
* Infant nutrition
* Infant respiratory distress syndrome
* Infant sleep training
* Neo-natal intensive care unit
* Newborn care and safety
* Oral rehydration therapy
* Pedialyte
* Preterm birth
* Shaken baby syndrome
* Soy formula
* Sudden infant death syndrome
* Breastfeeding and mental health
Development
* Attachment parenting
* Baby-led weaning
* Baby talk
* Babbling
* Childbirth
* Congenital disorder
* Crawling
* Infant visual development
* Diaper rash
* Gestational age
* Infant cognitive development
* Kangaroo care
* Mother
* Nursery Rhyme
* Object permanence
* Parent
* Parenting
* Peekaboo
* Play
* Prenatal development
* Prenatal development table
* Teething
* Types of crying
* Walking
* Weaning
Socialization and Culture
* Attachment
* Babysitting
* Child abuse
* Child custody
* Child's rights
* UN Child rights
* Circumcision
* Daycare
* Foster care
* Grandparent visitation
* Infant swimming
* Milk bank
* Nanny
* Wet nurse
Infant care and equipment
* Baby bouncer
* Baby gate
* Baby monitor/Hidden camera
* Baby powder
* Baby shampoo
* Baby toy
* Baby walker
* Bib
* Baby swing
* Baby transport
* Bassinet
* Car seat safety
* Cloth diaper
* Cradle board
* Diaper
* Diaper bag
* Baby wipes
* Haberman Feeder
* High chair
* Infant bed (American 'crib' and 'cradle', British 'cot')
* Infant carrier
* Infant clothing
* Pacifier
* Playpen
* Stroller
* Supplemental nursing system
* Swaddling
* Swim diaper
* Teether
* Travel cot
Other topics
* Baby shower
* Babywearing
* Child neglect
* Closed adoption
* Cry room
* Infant ear piercing
* Open adoption
* Prenatal cocaine exposure
* Neonatal withdrawal syndrome
* Parental child abduction
* Parental responsibility
* Parenting plan
* Paternity
* Paternity fraud
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Melasma
|
c0025218
| 25,849 |
wikipedia
|
https://en.wikipedia.org/wiki/Melasma
| 2021-01-18T19:00:47 |
{"mesh": ["D008548"], "icd-9": ["709.09"], "icd-10": ["L81.1"], "wikidata": ["Q305190"]}
|
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Prenatal-onset spinal muscular atrophy with congenital bone fractures
|
c4225177
| 25,850 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=486811
| 2021-01-23T17:04:54 |
{"omim": ["616866", "616867"], "synonyms": ["SMABF"]}
|
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hereditary leiomyomatosis and renal cell cancer
|
c1708350
| 25,851 |
gard
|
https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer
| 2021-01-18T18:00:03 |
{"mesh": ["C535516"], "omim": ["605839", "150800"], "umls": ["C1708350"], "synonyms": ["LRCC", "HLRCC", " Leiomyomatosis and renal cell cancer, hereditary", "Multiple cutaneous and uterine leiomyomata", "MCUL", "Reed's syndrome", "Multiple cutaneous leiomyomata", "MCL", "Familial leiomyomatosis and renal cell cancer", "Familial leiomyomatosis cutis et uteri", "Familial leiomyomatosis with renal carcinoma", "Familial multiple cutaneous leiomyomas"]}
|
A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
|
None
| 25,852 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293284
| 2021-01-23T18:56:52 |
{"icd-10": ["E70.1"], "synonyms": ["BH4-responsive HPA/PKU", "BH4-responsive hyperphenylalaninemia/phenylketonuria", "Tetrahydrobiopterin-responsive HPA/PKU"]}
|
## Summary
### Clinical characteristics.
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.
### Diagnosis/testing.
The diagnosis of SHORT syndrome is established in a proband with compatible clinical features (with emphasis on the facial gestalt) and a heterozygous pathogenic variant in PIK3R1 identified by molecular genetic testing.
### Management.
Treatment of manifestations: Glaucoma: reduce and stabilize intraocular pressure and to preserve vision. Sensorineural hearing loss: use of hearing aids. Dental anomalies: standard treatment; may include crowns and dental prostheses. Glucose intolerance and diabetes mellitus: to be followed by an endocrine specialist.
Surveillance: Regular monitoring of growth including height, weight, and body mass index. For all individuals with and without apparent anterior chamber anomaly: routine eye examinations to include measurement of intraocular pressure. Hearing assessment every two to three years. Screening for insulin resistance by oral glucose tolerance test every five years in the absence of diabetes. Annual screening lab tests for diabetes mellitus beginning after age ten years.
Agents/circumstances to avoid: Administration of human growth hormone as it may exacerbate insulin resistance. One individual with SHORT syndrome had worsening insulin resistance when treated with metformin; additional study is needed to determine the effects of this drug.
Pregnancy management: If present, diabetes mellitus is managed as appropriate.
### Genetic counseling.
SHORT syndrome is inherited in an autosomal dominant manner. The proportion of individuals with SHORT syndrome caused by a de novo pathogenic variant is unknown but appears to be significant. Each child of an individual with SHORT syndrome has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk and preimplantation genetic testing are possible if the pathogenic variant has been identified in an affected family member.
## Diagnosis
The designation SHORT syndrome was coined by Gorlin et al [1975] to reflect several of the most striking clinical features of the original reported cases: short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. However, it is now recognized that these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome.
### Suggestive Findings
SHORT syndrome should be suspected in individuals with some combination of the following findings:
* Intrauterine growth restriction
* Short stature
* Partial lipodystrophy
* Characteristic facial gestalt (see Figure 1). The face has a triangular appearance. The forehead is broad and the eyes are deep-set. The nose has a narrow tip and thin nasal alae. The columella is low-hanging. The middle and lower thirds of the face are relatively small. The corners of the mouth are downturned and the chin can be dimpled. The ears are often prominent but not low-set or posteriorly rotated.
* Axenfeld-Rieger anomaly or related anterior chamber ocular anomalies
* Delayed dentition
* Insulin resistance / diabetes mellitus
#### Figure 1.
Facial features of SHORT syndrome. The face has a triangular appearance with a prominent forehead and deep-set eyes. The nose has characteristic thin nasal alae and a low-hanging columella. The corners of the mouth can be downturned and the chin can be (more...)
No formal diagnostic criteria have been published for SHORT syndrome; however, to date the presence of characteristic facial features is highly predictive for identifying a heterozygous PIK3R1 pathogenic variant.
### Establishing the Diagnosis
The diagnosis of SHORT syndrome is established in a proband with compatible clinical features (with emphasis on the facial gestalt) and a heterozygous pathogenic variant in PIK3R1 identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive and recognizable facial features of SHORT syndrome described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a less-specific phenotype indistinguishable from many other inherited disorders with short stature and/or partial lipodystrophy are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of SHORT syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of PIK3R1 is performed first to detect missense, frameshift, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If no variant is detected by the sequencing method used, gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications may be considered. However, to date such variants have not been identified as a cause of SHORT syndrome.
* A multigene panel that includes PIK3R1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by short stature or partial lipodystrophy, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
If exome sequencing is not diagnostic, exome array (when clinically available) may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis. Note: To date such variants have not been identified as a cause of SHORT syndrome.
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 SHORT Syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PIK3R1Sequence analysis 331/31 probands 4
Gene-targeted deletion/duplication analysis 5None reported 4
Unknown 6NA
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\.
To date, a PIK3R1 pathogenic variant has been identified in 40 individuals from 31 families with SHORT syndrome (reviewed in Avila et al [2016], Huang-Doran et al [2016], Klatka et al [2017], Hamaguchi et al [2018]). Of these, 22/31 families have the recurrent pathogenic variant c.1945C>T.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
PIK3R1 is currently the only gene in which pathogenic variants are known to cause SHORT syndrome. Of note, an individual reported by Reardon & Temple [2008] had a clinical diagnosis of SHORT syndrome, but subsequent testing failed to identify a PIK3R1 pathogenic variant, suggesting the possibility of genetic heterogeneity. However, in retrospect, the classic facial gestalt of SHORT syndrome was not present [Dyment et al 2013]. There has been a single report of an individual with a de novo variant in PRKCE and a SHORT-like presentation; however, this has not been replicated [Alcantara et al 2017]. A homozygous variant in IGF1R has also been reported to cause a SHORT-like syndrome; however, the child presented with developmental delay, multiple malformations, and a facies that differed from that seen in others with a diagnosis of PIK3R1-related SHORT syndrome [Prontera et al 2015].
## Clinical Characteristics
### Clinical Description
To date, a pathogenic variant in PIK3R1 has been identified in 40 affected individuals from 31 families [Avila et al 2016, Huang-Doran et al 2016, Klatka et al 2017, Hamaguchi et al 2018]. The following description of the phenotypic features associated with this condition is based on these reports.
### Table 2.
Select Features of SHORT Syndrome
View in own window
FeatureNumber of Persons with Feature
Intrauterine growth restriction30/34
Short stature30/38 1
Partial lipodystrophy31/35
Facial gestalt40/40
Insulin resistance18/23
Diabetes11/18
Anterior chamber ocular defects6/20
Delayed dentition22/23
1\.
The remaining 8/40 individuals are described as short but with height between -2 SD and -1 SD.
Intrauterine growth restriction (IUGR). Infants with SHORT syndrome are usually born at or slightly before term and typically exhibit mild IUGR [Lipson et al 1989].
Short stature. Feeding difficulties and/or failure to thrive despite adequate caloric intake are commonly reported in young children.
* Mild-to-moderate short stature is usually present throughout childhood. Bone age may or may not be delayed. Other skeletal changes include gracile diaphyses and large and coned-shaped epiphyses [Haan & Morris 1998].
* Mild short stature has been seen in most adults reported to date. Adult height in males with a molecularly confirmed diagnosis of SHORT syndrome was between 155 and 163 cm and in females between 143 and 160 cm [Chudasama et al 2013, Dyment et al 2013, Thauvin-Robinet et al 2013].
Partial lipodystrophy. Partial lipodystrophy is very common in SHORT syndrome [Koenig et al 2003]. Lack of subcutaneous fat is evident in the face and later becomes more readily apparent in the chest and upper extremities. Although the buttocks and legs are often spared, localized regions of lipoatrophy at the elbows and buttocks have been reported [Aarskog et al 1983, Koenig et al 2003]. The hands also lack subcutaneous fat, and the skin has an aged, translucent appearance.
The body habitus is described as thin. All four adult males reported to date with a molecularly confirmed diagnosis had a body mass index (BMI) below 18.5 (range 13.5-17.9); four of eight adult females also had a BMI below 18.5 (range 15.1-22.5) [Chudasama et al 2013, Dyment et al 2013, Thauvin-Robinet et al 2013].
Characteristic facial gestalt. The characteristic facial features of SHORT syndrome – sometimes described as having an "aged" or "progeroid" appearance [Koenig et al 2003] – are present at birth and become increasingly apparent with age. Head shape is normal and occipital-frontal circumference is proportionate with other growth parameters. The vasculature of the scalp is prominent. The forehead is broad, palpebral fissures are deep-set, and alae nasi are thin with a low-hanging columella. The chin is small and can be dimpled. (See Figure 1.)
Insulin resistance / diabetes mellitus. Although insulin resistance may be evident in mid-childhood or adolescence, diabetes mellitus typically does not develop until early adulthood [Aarskog et al 1983, Schwingshandl et al 1993].
Axenfeld-Rieger anomaly or related anterior chamber ocular anomalies – also referred to as anterior chamber dysgenesis – have been reported in the majority of individuals with SHORT syndrome. Glaucoma, which has been reported in at least one individual at birth [Brodsky et al 1996], can also develop later [Bankier et al 1995]. Glaucoma is thought to be the result of poorly developed aqueous humor drainage structures of the anterior chamber of the eye.
The majority of individuals with a PIK3R1 pathogenic variant have at least some ocular involvement including myopia, hyperopia, and/or astigmatism, and half have Rieger anomaly or related anterior chamber defects [Chudasama et al 2013, Dyment et al 2013, Thauvin-Robinet et al 2013, Schroeder et al 2014].
Delayed dentition. Delayed dentition is common in individuals with a molecularly confirmed diagnosis of SHORT syndrome. Other dental issues include hypodontia, enamel hypoplasia, and malocclusion. Multiple dental caries have also been reported [Koenig et al 2003].
Other
* Sensorineural hearing loss of 80-90 dB has been diagnosed within the first year of life. Among individuals with a molecularly confirmed diagnosis of SHORT syndrome, six have been reported with hearing loss [Avila et al 2016].
* While cognition is not affected in SHORT syndrome, some affected children have mild speech delay.
* Some, but not all, affected individuals exhibit hyperextensible joints and/or inguinal hernias.
* Although there does not appear to be an increased risk for life-threatening infections or evidence of clinical immunodeficiency, there have been reports of a nonspecific history of frequent infections [Koenig et al 2003].
* Nephrocalcinosis has been reported in a mother-son pair with a molecularly confirmed diagnosis [Reardon & Temple 2008]. Nephrocalcinosis was identified incidentally in the son at age two months (on an abdominal US examination performed for follow up of anorectal atresia); the nephrocalcinosis was stable when reassessed at age two years. The mother also developed nephrocalcinosis as an adult.
* Pulmonic stenosis and ectopic kidney have also been reported [Koenig et al 2003, Schroeder et al 2014, Bárcena et al 2014].
* Fertility is generally preserved in SHORT syndrome; ovarian cysts are commonly reported in affected females.
### Genotype-Phenotype Correlations
To date no clear genotype-phenotype correlation is evident; however, pathogenic variants appear to cluster in the C-terminal SH2 domain of PIK3R1.
The recurrent missense pathogenic variant c.1945C>T has been identified in 22 of 31 families with SHORT syndrome. While individuals with this specific variant usually have typical SHORT syndrome, to date the numbers are too small to determine whether the phenotype observed with this pathogenic variant differs from that observed with other pathogenic variants.
### Penetrance
The penetrance of SHORT syndrome appears complete in all individuals undergoing molecular genetic testing to date: all simplex cases (i.e., a single occurrence in a family) with parents available for testing have had a de novo PIK3R1 pathogenic variant, and all familial cases have inherited the pathogenic variant from an affected parent.
### Nomenclature
Since it was first described in the early 1970s, what appears to be SHORT syndrome has been described by different terms, including:
* Low-birthweight Rieger syndrome
* Autosomal partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes *
* Absent iris stroma, narrow body build, and small facial bones *
* Individuals with the latter two disorders have subsequently been demonstrated to have a PIK3R1 pathogenic variant and SHORT syndrome.
### Prevalence
SHORT syndrome is very rare; fewer than 50 cases have been reported in the literature.
No ethnic predilection is known.
## Differential Diagnosis
Table 3 provides a comparative analysis of disorders with some clinical similarities to SHORT syndrome.
### Table 3.
Genes of Interest in the Differential Diagnosis of SHORT Syndrome
View in own window
Gene(s) / Genetic MechanismDifferential DisorderMOIFeatures of Differential Disorder
Overlapping w/ SHORT syndromeDistinguishing from SHORT syndrome
11p15.5 hypomethylation
mUPD7
CDKN1C
HMGA2
IGF2
PLAG1 1Silver-Russell syndrome (SRS)See footnote 2.
* IUGR & postnatal growth deficiency
* Nonspecific facial features incl triangular-shaped face 3
* More significiant short stature in SRS than in SHORT syndrome
* No eye anomalies or lipodystrophy in SRS
AGPAT2
BSCL2Berardinelli-Seip congenital lipodystrophy (BSCL)AR
* BSCL is usually diagnosed at birth or shortly thereafter; severe BSCL may have prenatal-onset w/IUGR.
* All children w/neonatal or infantile presentation demonstrate lipoatrophy in 1st yr of life.
* Insulin resistance & subsequent diabetes mellitus become common in late adolescence & early adulthood.
Hepatomegaly, severe generalized lipodystrophy, & acromegaloid facial features in BSCL
FOXC1
PITX2Nonsyndromic anterior chamber eye anomalies (OMIM 137600, 601631)ADAnterior chamber eye anomaliesAbsence of other features assoc w/SHORT syndrome
IGF1RNonsyndromic IUGR 4ADIUGR, short stature, glucose intolerance
* Absence of facial features of SHORT syndrome
* ↑ IGF1
JAG1
NOTCH2Alagille syndrome 5ADOcular & dental findings may be similar.Liver disease in Alagille syndrome
LMNAHutchinson-Gilford progeria syndrome (HGPS)ADMicrognathia, short stature, absence of subcutaneous fat
* Clinical features of HGPS develop in childhood (vs typically evident at birth in SHORT syndrome).
* Some features of accelerated aging w/disease progression in HGPS are distinct from those in SHORT syndrome.
PTPN11SHORT-like syndrome 6ADIUGR, short stature, lipoatrophy, & metabolic abnormalitiesFacial features not characteristic of SHORT syndrome
UBR1Johansson-Blizzard syndrome (OMIM 243800)ARIUGR, short stature, hypoplastic alae nasi, hypodontia, & hearing lossHeart & genitourinary malformations, aplasia cutis congenital, pancreatic insufficiency
AD = autosomal dominant; AR = autosomal recessive; IGF1 = insulin-like growth factor 1; IUGR = intrauterine growth restriction; MOI = mode of inheritance; mUPD = maternal uniparental disomy
1\.
Silver-Russell syndrome (SRS) is genetically heterogeneous. Hypomethylation of the imprinted control region 1 (ICR1) at 11p15.5 causes SRS in 35%-50% of individuals, and mUPD7 causes SRS in 7%-10% of individuals. A small number of individuals with SRS have duplications, deletions, or translocations involving the imprinting centers at 11p15.5 or duplications, deletions, or translocations involving chromosome 7. Rarely, affected individuals with pathogenic variants in CDKN1C, IGF2, PLAG1, and HMGA2 have been described.
2\.
Accurate assessment of SRS recurrence requires identification of the causative genetic mechanism in the proband.
3\.
Since it is possible that some individuals with a clinical diagnosis of SRS and normal molecular studies have a diagnosis of SHORT syndrome, careful consideration of the facial phenotype in these individuals is warranted.
4\.
Abuzzahab et al [2003], Kawashima et al [2005]
5\.
Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton.
6\.
Ranza et al [2020]
Hallerman-Streiff syndrome. The facial features of SHORT syndrome can also be similar to those seen in Hallerman-Streiff syndrome in early life. The molecular basis of Hallerman-Streiff syndrome is unknown (OMIM 234100).
Note: Copy number variations at several loci including PITX2 (4q25) and BMP4 (14q22.2) (which are frequently detected by chromosomal microarray analysis) can lead to syndromic anterior-chamber eye anomalies with phenotypes that to date have been clinically distinct from those of SHORT syndrome [Karadeniz et al 2004, Lines et al 2004, Reis et al 2011].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SHORT syndrome, 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 SHORT Syndrome
View in own window
System/ConcernEvaluationComment
Short statureMeasure length & weight.
Mild speech delayAssess speech & language in those w/evidence of DD.
Axenfeld-Rieger anomaly or related anterior chamber ocular anomaliesExam by ophthalmologist experienced in management of developmental eye disorders or glaucoma
Hearing lossHearing assessment
Delayed dentitionDental exam
Insulin resistance / diabetes mellitusAssessment by endocrinologist & consideration of fasting glucose & oral glucose tolerance testThis is important in the individual diagnosed w/SHORT syndrome as an older child (age >10 yrs) or later as an adult.
Pulmonary stenosisEchocardiogram
NephrocalcinosisAbdominal US
Genetic counselingBy genetics professionals 1To inform patients & families re nature, MOI, & implications of SHORT syndrome to facilitate medical & personal decision making
DD = developmental delay; MOI = mode of inheritance; US = ultrasound
1\.
Medical geneticist, certified genetic counselor, certified advanced genetic nurse
### Treatment of Manifestations
### Table 5.
Treatment of Manifestations in Individuals with SHORT Syndrome
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Axenfeld-Rieger anomaly or related anterior chamber ocular anomaliesTreatment by ophthalmologist experienced in management of developmental eye disorders or glaucomaImportant to ↓ & stabilize ocular pressures & to preserve vision
Hearing lossSee Hereditary Hearing Loss and Deafness.
Dental anomaliesStandard treatment & may incl crowns & dental prostheses.
Insulin resistance / Diabetes mellitusStandard treatment for glucose intolerance & diabetes mellitus w/diet, lifestyle, oral medication, & insulin under supervision of a specialist in diabetes care is recommended.1 report found that treatment w/metformin → worsening of insulin resistance in 1 person w/SHORT syndrome, suggesting need for caution in use of metformin & further study [Lewandowski et al 2019].
### Surveillance
### Table 6.
Recommended Surveillance for Individuals with SHORT Syndrome
View in own window
System/ConcernEvaluationFrequency
Short statureMonitor growth incl height, weight, & body mass indexEvery 6-12 mos
Eye abnormalityEye exams to incl measurement of intraocular pressureAnnually
Hearing lossHearing assessmentEvery 2-3 yrs
Insulin resistanceOral glucose tolerance testEvery 5 yrs in absence of diabetes
DiabetesFasting glucose, insulin, & HBA1cAnnually starting in later childhood (age >10 yrs)
### Agents/Circumstances to Avoid
Given the increased risk for insulin resistance in individuals taking growth hormone, it has been suggested that growth hormone be contraindicated in individuals with SHORT syndrome [Thauvin-Robinet et al 2013].
One report observed a worsening of insulin resistance in a child with SHORT syndrome treated with metformin [Lewandowski et al 2019]. The report was limited to a single individual; as such, further study is needed to determine the effects of this drug.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Successful pregnancies have occurred in women with SHORT syndrome. If present, diabetes mellitus is managed as appropriate.
### 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
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SHORT Syndrome
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c0878684
| 25,853 |
gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK201365/
| 2021-01-18T20:58:50 |
{"mesh": ["C537327"], "synonyms": []}
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Sturgess et al. (1979) studied 3 sibs with chronic respiratory disease. Electron microscopy of respiratory tract cilia showed a 'new' abnormality of the ciliary axoneme, namely, lack of the radial spokes. The cilia showed an eccentric central pair of tubules, but otherwise had a normal central sheath, outer-doublet microtubules, nexin links and dynein arms. The cilia were immotile and mucociliary clearance was completely lacking, as in the Kartagener syndrome, but normal in the parents and a clinically unaffected sib. The sperm of the affected male sib showed morphologic changes identical to those in respiratory cilia and were immotile.
See CILD1 (244400).
HEENT \- Chronic rhinitis \- Sinusitis \- Nasal polyps GU \- Immotile sperm Respiratory \- Chronic respiratory disease \- Immotile cilia \- Absent mucociliary clearance Lab \- Lack of ciliary axoneme radial spokes by electron microscopy Inheritance \- Autosomal recessive ▲ 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
|
CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES
|
c0340035
| 25,854 |
omim
|
https://www.omim.org/entry/242670
| 2019-09-22T16:26:22 |
{"mesh": ["C536286"], "omim": ["242670", "244400"], "orphanet": ["244"], "synonyms": ["IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES", "Alternative titles", "PCD"]}
|
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
## Epidemiology
Prevalence is unknown, but the syndrome was originally described in a large Scottish family.
## Etiology
Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.
## Diagnostic methods
The presence of basal ganglia calcifications, detectable by CT scan, and elevated CSF protein levels are characteristic features of Fried syndrome and should prompt genetic analysis when found in individuals with XLMR.
## Management and treatment
Beyond the management of hydrocephalus and follow-up of psychomotor development, no specific treatment is available.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Fried syndrome
|
c0796254
| 25,855 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85335
| 2021-01-23T18:00:55 |
{"mesh": ["C535773"], "omim": ["304340"], "icd-10": ["Q87.8"]}
|
## Summary
### Clinical characteristics.
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other, less frequent, features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.
### Diagnosis/testing.
The diagnosis of SUCLA2-related mtDNA depletion syndrome is established in a proband by the identification of biallelic pathogenic variants in SUCLA2 on molecular genetic testing.
### Management.
Treatment of manifestations: Physical therapy to maintain muscle function and prevent joint contractures; antiepileptic drugs for seizures; nasogastric or gastrostomy tube as needed to assure adequate caloric intake; chest physiotherapy, aggressive antibiotic treatment of chest infections, and respiratory aids such as assisted nasal ventilation or use of a tracheostomy and ventilator when indicated; bracing to treat scoliosis or kyphosis; blepharoplasty for significant ptosis; and hearing aids/cochlear implantation for sensorineural hearing loss.
Surveillance: Routine monitoring of development, growth, and hearing; periodic ophthalmologic evaluations; routine skeletal evaluations for kyphoscoliosis and joint contractures.
### Genetic counseling.
SUCLA2-related mtDNA depletion syndrome 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 relatives and prenatal testing for pregnancies at increased risk are possible once the pathogenic variants in the family have been identified.
## Diagnosis
### Suggestive Findings
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria typically manifests during early infancy and should be suspected in individuals with a combination of the following clinical, brain MRI, and supportive laboratory and muscle biopsy findings.
Clinical features
* Psychomotor retardation
* Hypotonia
* Sensorineural hearing impairment
* Dystonia
* Feeding difficulties
* Growth retardation / failure to thrive
* Muscular atrophy
Brain MRI findings
* Basal ganglia hyperintensities
* Cerebral atrophy
* Leukoencephalopathy
Supportive laboratory findings
* Urine organic acid analysis
* Elevation of methylmalonic acid (MMA) in the vast majority of affected children. However, the MMA level is considerably less pronounced than in classic methylmalonic aciduria and can be only marginally elevated or even normal on rare occasions [Lamperti et al 2012].
* Several other metabolites may be elevated in urine, including methylcitrate, 3-methylglutaconic acid, 3-hydroxyisovaleric acid, and Krebs cycle intermediates such as succinate, fumarate, and 2-ketoglutarate [Carrozzo et al 2016].
* Plasma MMA level
* Elevation has been reported in all affected individuals analyzed, including those with marginally elevated urine MMA level [Carrozzo et al 2016].
* Plasma MMA level may be more sensitive in identifying SUCLA2-related mtDNA depletion syndrome than urine organic acid analysis.
* Acylcarnitine profile. Elevated C3; thus, this condition can potentially be detected by newborn screening.
* Plasma and CSF lactate levels. Elevated in most affected individuals
Muscle biopsy findings
* Increased fiber size variability, atrophic fibers, intracellular lipid accumulation, and COX-deficient fibers
Approximately 20% of affected individuals will have normal muscle histology [Carrozzo et al 2016].
* In some cases, structurally altered mitochondria with abnormal cristae on electron microscopy
* In the majority of individuals, abnormal electron transport chain activity
* The most common abnormalities are combined complex I and IV deficiencies, combined complex I, III, and IV deficiencies, and isolated complex IV deficiency.
* Electron transport chain activity has been reported to be normal in approximately 10% of affected individuals who underwent this test [Carrozzo et al 2016].
* Mitochondrial DNA content in muscle tissue of affected individuals typically reduced to 20%-60% of tissue- and age-matched controls [Elpeleg et al 2005, Carrozzo et al 2007, Ostergaard et al 2007, Carrozzo et al 2016]
### Establishing the Diagnosis
The diagnosis of SUCLA2-related mtDNA depletion syndrome is established in a proband by the identification of biallelic pathogenic variants in SUCLA2 on molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:
* Single-gene testing. Sequence analysis of SUCLA2 is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
Note: Targeted analysis for the c.534+1G>A pathogenic founder variant can be performed first in individuals of Faroese ancestry (see Prevalence).
* A multigene panel that includes SUCLA2 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) 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, mitochondrial sequencing, and genome sequencing may be considered if single-gene testing (and/or use of a multigene panel that includes SUCLA2) fails to confirm a diagnosis in an individual with features of SUCLA2-related mtDNA depletion syndrome. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
SUCLA2Sequence analysis 346/50 4
Gene-targeted deletion/duplication analysis 54/50 4
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\.
Matilainen et al [2015], Carrozzo et al [2016]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
## Clinical Characteristics
### Clinical Description
To date 50 individuals with SUCLA2-related mtDNA depletion syndrome have been reported [Elpeleg et al 2005, Carrozzo et al 2007, Ostergaard et al 2007, Morava et al 2009, Lamperti et al 2012, Navarro-Sastre et al 2012, Jaberi et al 2013, Matilainen et al 2015, Nogueira et al 2015, Carrozzo et al 2016]. The clinical description here is based on what has been reported in these 50 individuals. The common clinical manifestations are summarized in Table 2 [Carrozzo et al 2016].
### Table 2.
Common Clinical Manifestations of SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
View in own window
FrequencyManifestations
>75%
* Dystonia
* Hypotonia
* Psychomotor retardation
* Sensorineural hearing impairment
50%-75%
* Feeding difficulties
25%-50%
* Growth retardation / failure to thrive
* Muscular atrophy
<25%
* Choreoathetosis
* Distinctive facial features including brachycephaly, epicanthus, upslanted palpebral fissures
* Epilepsy
* Gastroesophageal reflux disease
* Hyperhidrosis
* Hypertonia
* Hypoglycemia
* Joint contractures
* Kyphoscoliosis
* Ophthalmoplegia
* Ptosis
* Strabismus
* Recurrent respiratory infections
* Recurrent vomiting
* Respiratory distress
Affected children with SUCLA2-related mtDNA depletion syndrome typically have an uncomplicated prenatal course and birth. Birth weight and birth length are typically within the normal range. The median age of onset of manifestations is two months, with a range from birth to six years [Carrozzo et al 2016].
Neurocognitive. The vast majority of affected children present during infancy with hypotonia and psychomotor retardation. Dystonia and muscle atrophy also occur commonly. Other, less frequent, neurologic manifestations include hypertonia, choreoathetosis, ptosis, ophthalmoplegia, strabismus, and epilepsy (including infantile spasms and generalized convulsions). Brain MRI typically shows basal ganglia hyperintensities (70%), cerebral atrophy (70%), and leukoencephalopathy (15%) [Carrozzo et al 2016].
Hearing. Most affected children develop sensorineural hearing impairment; some benefit from a cochlear implant.
Growth. Postnatal growth retardation with low weight and length/height is a common feature of this condition. Feeding difficulties, often necessitating tube feeding, occur commonly, while recurrent vomiting and gastroesophageal reflux disease occasionally occur. The feeding difficulties, recurrent vomiting, and gastroesophageal reflux disease can lead or contribute to failure to thrive in affected infants.
Distinctive facial features including brachycephaly, epicanthus, and upslanted palpebral fissures, have been reported.
Respiratory. Recurrent respiratory infections occur occasionally. Respiratory distress due to muscle weakness, obstructive sleep apnea, tracheomalacia, and abnormal breathing has also been reported.
Skeletal. Progressive kyphoscoliosis has been reported occasionally and may require treatment. Joint contractures can develop in extremities secondary to decreased movement.
Other. Hyperhidrosis and neonatal hypoglycemia have occasionally been reported. Other rare manifestations:
* Anemia
* Acquired dislocation of hip and shoulder
* Irritability
* Sleep disturbance
Life span is shortened, with median survival of 20 years in individuals with SUCLA2-related mtDNA depletion syndrome. Approximately 30% of affected individuals reportedly died during childhood [Carrozzo et al 2016].
### Genotype-Phenotype Correlations
Pathogenic missense variants can result in some residual enzyme activity, and hence a milder phenotype. Survival in affected individuals with biallelic pathogenic missense variants was significantly longer than in those with biallelic loss-of-function variants (deletions, frameshift and nonsense variants) (median survival age 21 years vs 15 years) [Carrozzo et al 2016].
### Prevalence
SUCLA2-related mtDNA depletion syndrome is rare; the exact prevalence is unknown. To date, 50 individuals of different ethnic origins have been reported [Elpeleg et al 2005, Carrozzo et al 2007, Ostergaard et al 2007, Morava et al 2009, Lamperti et al 2012, Navarro-Sastre et al 2012, Jaberi et al 2013, Matilainen et al 2015, Nogueira et al 2015, Carrozzo et al 2016].
A founder pathogenic variant in families of Faroese origin has been identified (Table 4); the disorder has a high incidence (1:1,700) and a carrier frequency of 1:33 in the Faroe Islands [Ostergaard et al 2007].
## Differential Diagnosis
SUCLA2-related mtDNA depletion syndrome needs to be differentiated from other mtDNA depletion syndromes, a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs.
Mitochondrial DNA depletion syndromes occur as a result of defects in mtDNA maintenance caused by pathogenic variants in nuclear genes that function in either mitochondrial nucleotide synthesis (e.g., TK2, SUCLA2, SUCLG1, RRM2B, DGUOK, and TYMP) or mtDNA replication (e.g., POLG and TWNK).
Mitochondrial DNA depletion syndromes are phenotypically classified into myopathic, encephalomyopathic, hepatocerebral, and neurogastrointestinal forms (Table 3) [El-Hattab & Scaglia 2013].
Myopathic forms present in infancy or early childhood with hypotonia, proximal muscle weakness, and feeding difficulty. Cognition is usually spared. Typically, there is rapid progression of muscle weakness with respiratory failure and death within a few years of onset.
Encephalomyopathic mtDNA depletion syndromes present in infancy with hypotonia and global developmental delay. Depending on the underlying defect, other features, including deafness, movement disorders, Leigh-like syndrome, and renal disease, can be observed.
Hepatocerebral forms present with early-onset liver dysfunction and neurologic involvement, including developmental delay, abnormal eye movements, and peripheral neuropathy.
Neurogastrointestinal forms, the prototype of which is mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease, present in adolescence to early adulthood with progressive gastrointestinal dysmotility, cachexia, and peripheral neuropathy.
The phenotype of SUCLG1-related mtDNA depletion syndrome may be difficult to distinguish from SUCLA2-related mtDNA depletion. SUCLG1-related mtDNA depletion syndrome is characterized by psychomotor retardation, hypotonia, muscle atrophy, feeding difficulties, growth retardation, dystonia, hearing loss, lactic acidosis, elevated urine and plasma MMA, and mtDNA depletion. However, hepatopathy and cardiomyopathy occur in SUCLG1-related mtDNA depletion only [Carrozzo et al 2016].
### Table 3.
Mitochondrial DNA Depletion Syndromes
View in own window
Phenotype 1GeneMitochondrial DNA Depletion Syndrome #, TypeReference 2
HepatocerebralDGUOK3, hepatocerebral typeDeoxyguanosine Kinase Deficiency
POLG4A, Alpers typePOLG-Related Disorders
MPV176, hepatocerebral typeMPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
TWNK
(C10orf2)7, hepatocerebral typeOMIM 271245
TFAM15, hepatocerebral typeOMIM 617156
Encephalo-
myopathicSUCLA25, encephalomyopathic type w/methylmalonic aciduriaSUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
FBXL413, encephalomyopathic typeFBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
SUCLG19, encephalomyopathic type with methylmalonic aciduriaSUCLG1-Related mtDNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
RRM2B8A, encephalomyopathic type w/renal tubulopathyRRM2B-Related Mitochondrial Disease
OPA114, encephalocardiomyopathic typeOMIM 616896
ABATEncephalomyopathic typeOMIM 613163
Neurogastro-
intestinalTYMP1, MNGIE typeMitochondrial Neurogastrointestinal Encephalopathy Disease
POLG4B, MNGIE typePOLG-Related Disorders
RRM2B8B, MNGIE typeRRM2B-Related Mitochondrial Disease
MyopathicTK22, myopathic typeTK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
AGK10, cardiomyopathic type (Sengers syndrome)OMIM 212350
MGME111, myopathic typeOMIM 615084
SLC25A412B, cardiomyopathic typeOMIM 615418
1\.
Within each phenotypic category, mtDNA depletion syndromes are ordered by relative prevalence.
2\.
See hyperlinked GeneReview or OMIM phenotype entry for more information.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SUCLA2-related mtDNA depletion syndrome, the following evaluations need to be performed (if not already done as part of the initial diagnostic evaluation):
* Comprehensive neurologic examination and developmental/cognitive assessment. The following diagnostic modalities can be used to assess the degree of neurologic involvement:
* Neuroimaging (preferably brain MRI) to establish the degree of central nervous system involvement
* EMG to assess myopathy
* EEG if seizures are suspected
* Audiologic evaluation
* Ophthalmologic examination
* Nutritional evaluation and swallowing assessment for feeding difficulties and growth failure
* Physical examination for the back and joints for kyphoscoliosis and joint contractures
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Management should involve a multidisciplinary team including specialists in neurology, audiology, child development, gastroenterology, nutrition, and clinical genetics. Treatments include the following:
* Physical therapy to help maintain muscle function and prevent joint contractures
* Standard treatment with antiepileptic drugs for seizures
* Nutritional support by a dietitian and the use of a nasogastric tube or gastrostomy tube feedings to address feeding difficulties and failure to thrive
* Chest physiotherapy, aggressive antibiotic treatment of chest infections, and artificial ventilation (including assisted nasal ventilation or intubation and the use of a tracheostomy and ventilator) for respiratory insufficiency
* Bracing for scoliosis and kyphosis
* Blepharoplasty for significant ptosis
* Hearing aids and/or cochlear implantation for sensorineural hearing loss
### Surveillance
No clinical guidelines for surveillance are available. The following evaluations are suggested, with frequency varying according to the severity of the condition:
* Routine developmental and neurologic assessment
* Periodic nutritional and growth assessment
* Periodic hearing evaluation
* Periodic ophthalmologic examination
* Routine physical examination of back and joints for kyphoscoliosis and joint contractures
### 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
|
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
None
| 25,856 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK6803/
| 2021-01-18T20:58:18 |
{"synonyms": ["SUCLA2 Deficiency"]}
|
A number sign (#) is used with this entry because autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.
Allelic disorders with overlapping phenotypes include LMNA-related congenital muscular dystrophy (613205) and dilated cardiomyopathy type 1A (CMD1A; 115200).
Homozygous mutation in the LMNA gene causes EDMD3 (616516).
Description
EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989).
For a discussion of genetic heterogeneity of EDMD, see 310300.
Nomenclature
Some cases of Emery-Dreifuss muscular dystrophy-2 were previously classified as a form of limb-girdle muscular dystrophy (type 1B; LGMD1B). LGMD1B was characterized as an autosomal dominant, slowly progressive limb-girdle muscular dystrophy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. Straub et al. (2018), on behalf of the LGMD workshop study group, reclassified LGMD1B as EDMD2.
Clinical Features
Jennekens et al. (1975) reported 2 unrelated Dutch families in which 26 members had slowly progressive muscle weakness with scapuloilioperoneal distribution and late-onset cardiomyopathy. Inheritance was autosomal dominant. Disease onset ranged from 17 to 42 years, and cardiomyopathy appeared late in the disease, always after skeletal muscle involvement. Skeletal muscle biopsies showed neurogenic and myopathic changes with inflammatory cell reaction and perivascular cuffing. The disorder was intermediate between typical limb-girdle muscular dystrophy (e.g., 603511), in which weakness appears first in the pelvic girdle and thigh muscles, and from scapuloperoneal atrophy (e.g., 181400), in which there is neurogenic weakness in the long extensors of the feet and toes.
Chakrabarti and Pearce (1981) reported 4 members of a family with scapuloperoneal syndrome. Biopsies of skeletal muscle and spinal cord confirmed a myopathic basis of the muscular atrophy. The authors noted some unique features in this family, including early age at onset, rapid progression, early muscle contractures, and a high incidence of severe cardiomyopathy. Fenichel et al. (1982) reported autosomal dominant humeropelvic muscular dystrophy and cardiomyopathy.
Miller et al. (1985) reported a woman with early-onset, slowly progressive humeroperoneal muscle weakness and adult-onset cardiomyopathy. There was some pelvic girdle involvement. She had marked restriction of neck flexion beginning at age 11 years, with contractures of the posterior cervical muscles, elbows, and ankles. EMG and biopsies indicated a myopathy. At age 25 years, she was found to have atrial fibrillation with slow ventricular rate, necessitating a cardiac pacemaker. At age 30, she had difficulty climbing stairs or walking long distances because of leg weakness. Cervical spine imaging showed hypoplasia of vertebral bodies with partial fusion of apophyseal joints and reduced flexion. The patient's father was seen at age 35 because of limitation of neck flexion, noted weakness of leg muscles at age 38, became aware of cardiac abnormalities at age 39, began use of a cane at age 52, was chair-bound at age 60, and died at age 62 of progressive heart failure. Miller et al. (1985) noted that the phenotype in this family was consistent with Emery-Dreifuss muscular dystrophy, but that the inheritance was autosomal dominant.
Becker (1986) suggested that the Hauptmann-Thannhauser eponym be attached to autosomal dominant muscular dystrophy with early contractures and cardiomyopathy because Hauptmann and Thannhauser (1941), 2 German immigrants working in Boston, reported the disorder in a family of French Canadian descent in which 9 persons in 3 generations were affected by a form of muscular dystrophy 'not heretofore described in the literature.' The disorder was manifested by inability to flex the neck and slight webbing due to shortened muscle as well as limitation on spinal flexion and elbow extension from the same cause. The limb-girdle muscles were underdeveloped and weak. The condition was apparently not progressive.
Witt et al. (1988) described a German family with an autosomal dominant form of the Emery-Dreifuss syndrome. Several affected members died in middle age of sudden cardiac death and at least 2 had a pacemaker implanted. One patient had heart transplant. Four instances of male-to-male transmission were observed in the family.
Orstavik et al. (1990) reported 4 females with EDMD, including a pair of identical twins, in 3 successive generations. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10 years, with little progression in later years. The proband developed cardiomyopathy at age 45; her twin daughters had no signs of cardiomyopathy at age 21 years. The affected individuals were relatively short.
Van der Kooi et al. (1996, 1997) described the clinical picture of 3 families with what the authors described as a form of autosomal dominant limb-girdle muscular dystrophy associated with cardiac involvement (LGMD1B). In affected individuals, symmetric weakness started in the proximal lower-limb muscles before the age of 20 years. In the third or fourth decade, upper-limb muscles gradually became affected as well. Early contractures of the spine were absent, and contractures of elbows and Achilles tendons were either minimal or late, distinguishing this disorder from Emery-Dreifuss muscular dystrophy. Serum creatine kinase activity was normal to moderately elevated. EMG and muscle biopsy were consistent with mild muscular dystrophy. Cardiologic abnormalities were found in 62.5% of the patients, including atrioventricular conduction disturbances and dysrhythmias, presenting as bradycardia, syncopal attacks necessitating pacemaker implantation, and sudden cardiac death at the age of approximately 50 years. Two patients had dilated cardiomyopathy. In nearly all patients, neuromuscular symptomatology preceded cardiologic involvement. Van der Kooi et al. (1997) commented that the cardiologic abnormalities in these families, consisting predominantly of AV conduction disturbances, resembled closely the disorder in the family reported by Graber et al. (1986) (see CMD1A, 115200). Van der Kooi et al. (1996) stated that the LGMD1B phenotype differs from autosomal dominant EDMD by the absence of significant contractures, the predominance of proximal limb weakness, and the occasional presence of calf hypertrophy.
Bonne et al. (2000) reported phenotypic variability of EDMD2 among 53 patients, including 36 from 6 families and 17 sporadic cases. Twelve patients showed only cardiac involvement, whereas the remaining 41 all had muscle weakness and contractures. In addition, 12 patients had normal electrocardiographic findings, most of whom also had normal echocardiographic findings; these patients ranged in age from 4 to 25 years. Those with cardiac involvement had arrhythmias resulting in ventricular dysfunction. Skeletal muscle involvement included humeroperoneal wasting and weakness, scapular winging, rigidity of the spine, and elbow and Achilles tendon contractures. The disease course was generally slow, but there were 2 broad phenotypes: a milder one characterized by late onset and a mild degree of weakness and contractures, and a more severe phenotype with early presentation and a rapidly progressive course.
Charniot et al. (2003) described a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles. Cardiac involvement preceded neuromuscular disease in all affected patients, whereas in previously reported cases with both cardiac and neuromuscular involvement, the neuromuscular disorders had preceded cardiac abnormalities. Twenty-nine members of the family were examined, of whom 11 were classified as affected and 4 had both cardiac and peripheral muscle symptoms. Average age at onset of cardiac symptoms was 40 years. Bilateral motor deficit of the quadriceps deteriorated progressively, without involvement of other muscles. Affected members had a heterozygous mutation in the LMNA gene (R377H; 150330.0017).
Mercuri et al. (2004) reported 5 patients with the same mutation in the LMNA gene (E358K; 150330.0049) who had variable phenotypes including EDMD, LGMD, and congenital muscular dystrophy. One of the patients was 30-year-old woman, who was born to healthy nonconsanguineous parents. She was noted to be hypotonic at birth and had feeding difficulties, but motor development was within the normal range, although she was never able to run. At age 7 years, she had generalized hypotonia, waddling gait, and severe limb muscle wasting and weakness. The weakness progressed rapidly in early adulthood, and she became wheelchair-bound in her mid-twenties. Examination at age 30 showed marked midface hypoplasia with a broad nasal bridge. She also had features of lipodystrophy (FPLD2; 151660), with increased subcutaneous adipose tissue in the back and facial region and extremely thin extremities. Contractures were present in the elbows, finger flexors, spine, and Achilles tendons. Cardiac involvement included recurrent atrial fibrillation and a brady/tachy syndrome. She also had respiratory insufficiency.
Wessely et al. (2005) reported a 20-year-old woman with EDMD caused by heterozygous mutation in the LMNA gene. She presented at age 20 years with syncope and dyspnea on exertion and was found to have severely decreased systolic function, first-degree heart block, left anterior hemiblock, and low-amplitude P waves on EKG. Cardiac muscle biopsy showed severe fibroadipose tissue replacement of the myocardium with interstitial fibrosis. She underwent successful cardiac transplantation.
Rudnik-Schoneborn et al. (2007) reported 2 unrelated German women who had initially been diagnosed with adult-onset proximal spinal muscular atrophy (e.g., 271150 and 182980). The first patient developed proximal muscle weakness in her thirties, followed by cardiac arrhythmia and dilated cardiomyopathy in her late fifties. Family history revealed that the paternal grandmother had proximal muscle weakness and died from heart disease at age 52, and a paternal aunt had 'walking difficulties' since youth. The patient's father and 4 cousins all had cardiac disease without muscle weakness ranging from nonspecific 'heart attacks' to dilated cardiomyopathy and arrhythmia. The second patient presented with slowly progressive proximal muscle weakness beginning in the lower extremities and later involving the upper extremities. EMG showed both neurogenic and myopathic defects in the quadriceps muscle. At age 53 years, she was diagnosed with atrioventricular conduction block and arrhythmia requiring pacemaker implantation. Family history showed that her mother had walking difficulties from age 40 years and died of a heart attack at age 54. Six other deceased family members had suspected cardiomyopathy without muscle involvement. In both patients, genetic analysis confirmed a heterozygous mutation in the LMNA gene (see 150330.0017 and 150330.0038).
Benedetti et al. (2007) reported 27 individuals with mutations in the LMNA gene resulting in a wide range of neuromuscular disorders. Phenotypic analysis yielded 2 broad groups of patients. One group included patients with childhood onset who had skeletal muscle involvement with predominant scapuloperoneal and facial weakness, consistent with EDMD or congenital muscular dystrophy. The second group included patients with later or adult onset who had cardiac disorders or a limb-girdle myopathy, consistent with LGMD1B. Features common to both groups included involvement of the neck or paravertebral muscles and an age-dependent development of cardiomyopathy, most after age 25 years. Both groups also had an increased frequency of sudden death in the family. Genetic analysis showed that individuals in the group with childhood onset tended to have missense mutations, whereas those in the group with adult onset tended to have truncating mutations. Benedetti et al. (2007) speculated that there may be 2 different pathogenetic mechanisms associated with neuromuscular LMNA-related disorders: late-onset phenotypes may arise through loss of LMNA function secondary to haploinsufficiency, whereas dominant-negative or toxic gain-of-function mechanisms may underly the more severe early phenotypes.
Makri et al. (2009) reported 2 sisters with early-onset autosomal dominant muscular dystrophy most consistent with EDMD. Because the girls were born of consanguineous Algerian parents, they were at first thought to have an autosomal recessive congenital muscular dystrophy. However, genetic analysis identified a heterozygous mutation in the LMNA gene (R527P; 150330.0003) in both patients that was not present in either unaffected parent. The results were consistent with germline mosaicism or a recurrent de novo event. The older sib had a difficult birth and showed congenital hypotonia, diffuse weakness, and mild initial respiratory and feeding difficulties. She sat unsupported at age 2 years and walked independently from age 4 years with frequent falls and a waddling gait. At 13 years she had a high-arched palate, moderate limb hypotonia, and weakness of the pelvic muscles. There was proximal limb wasting, moderate cervical, elbow, and ankle contractures, pes cavus, spinal rigidity, and lordosis/scoliosis. Her sister had mild hypotonia in early infancy, walked without support at 24 months, and showed proximal muscle weakness. There were mild contractures of the elbow and ankles. At age 9 years, she showed adiposity of the neck, trunk and abdomen, consistent with lipodystrophy. Brain MRI and cognition were normal in both sisters, and neither had cardiac involvement. Muscle biopsies showed a dystrophic pattern.
Inheritance
Emery-Dreifuss muscular dystrophy-2 shows autosomal dominant inheritance (Bonne et al., 2000).
Pathogenesis
Manilal et al. (1999) noted that emerin, encoded by the gene mutant in classic X-linked EDMD, is normal in the autosomal form of EDMD. They found that the distribution of emerin most closely resembles that of lamin A/C. A functional interaction between emerin and lamin A in nuclei could explain the identical phenotype in the forms of EDMD.
Zhang et al. (2007) identified mutations in the SYNE1 (608441) and SYNE2 (608442) genes in patients with EDMD4 (612998) and EDMD5 (612999). Skin fibroblasts from these patients showed similar defects in nuclear morphology as those described in patients with EDMD due to mutations in the LMNA and EMD genes. SYNE1 and SYNE2 mutant fibroblasts showed a convoluted appearance with micronuclei, giant, and fragmented nuclei, and chromatin reorganization. Patient fibroblasts and muscle cells showed loss of nuclear envelope integrity with mislocalization of LMNA and emerin. Immunofluorescent studies showed loss of SYNE1 or SYNE2 expression in the nuclear envelope and mitochondria of patient fibroblasts. These same changes were also observed in fibroblasts from patients with other genetic forms of EDMD, indicating that loss of nesprin is a characteristic of all forms of EDMD. RNA interference of SYNE1 or SYNE2 recapitulated the nuclear defects membrane defects and changes in the organization of intranuclear heterochromatin observed in patient cells. Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a common feature of EDMD. Zhang et al. (2007) concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton.
Mapping
Van der Kooi et al. (1997) demonstrated linkage in their 3 families diagnosed with LGMD1B to chromosome 1q11-q21, with a combined maximum 2-point lod score greater than 12 at theta = 0.0. The concomitant presence of mild muscular dystrophy indicated a difference between the cardiomyopathy disorder in the family of Graber et al. (1986) and LGMD1B. However, the authors suggested that they could be allelic disorders.
By genetic linkage analysis of a large affected French pedigree, Bonne et al. (1999) mapped the locus for autosomal dominant Emery-Dreifuss muscular dystrophy to an 8-cM interval on chromosome 1q11-q23. Results from 4 other small affected families were suggestive of linkage to this locus. The authors noted that this region contains the lamin A/C gene (LMNA; 150330), a candidate gene encoding 2 proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. Bonne et al. (1999) noted that limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) had been mapped to the same 1q11-q23 region by van der Kooi et al. (1997), suggesting that the 2 disorders may be allelic.
Molecular Genetics
In affected members of 5 families with autosomal dominant EDMD, Bonne et al. (1999) identified 4 mutations in the LMNA gene that cosegregated with the disease phenotype (150330.0001-150330.0004). These findings represented the first identification of mutations in a component of the nuclear lamina as a cause of an inherited muscle disorder.
In affected members of the 3 families diagnosed with LGMD1B linked to markers on chromosome 1q11-q21 by van der Kooi et al. (1996, 1997), Muchir et al. (2000) identified mutations in the LMNA gene: a missense mutation (150330.0017), a deletion of a codon (150330.0018), and a splice donor site mutation (150330.0019). The 3 mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects.
Bonne et al. (2000) identified 18 different LMNA mutations among 53 patients with EDMD2. Mutations included 1 nonsense mutation, 2 deletions of a codon, and 15 missense mutations. All mutations were distributed between exons 1 and 9 in the region of LMNA common to both lamins A and C. Most (76%) of the mutations were de novo events. There were no clear genotype/phenotype correlations and there was marked inter- and intrafamilial variability even in those with the same mutation.
In all but 1 affected member of a family diagnosed with LGMD1B, van Engelen et al. (2005) identified a heterozygous mutation in the LMNA gene (Y259X; 150330.0035); the exception was a newborn who was homozygous for the mutation. The heterozygous Y259 mutation led to the classic LGMD1B phenotype, whereas the homozygous mutation caused a lethal phenotype.
In affected members of a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles, Charniot et al. (2003) identified a heterozygous mutation in the LMNA gene (150330.0017).
INHERITANCE \- Autosomal dominant HEAD & NECK Neck \- Restricted neck movement due to contractures CARDIOVASCULAR Heart \- Dilated cardiomyopathy \- Cardiac conduction defects \- Cardiac arrhythmias \- Increased risk of sudden cardiac death CHEST Ribs Sternum Clavicles & Scapulae \- Scapular winging SKELETAL Spine \- Spinal rigidity \- Decreased cervical spine flexion due to contractures of posterior cervical muscles Limbs \- Elbow contractures Feet \- Achilles tendon contractures MUSCLE, SOFT TISSUES \- Humeroperoneal weakness and atrophy \- Distal lower limb muscle weakness and atrophy \- Limb-girdle muscle weakness, proximal, upper greater than lower \- Pelvic muscle involvement occurs later LABORATORY ABNORMALITIES \- Moderately increased serum creatine kinase MISCELLANEOUS \- Onset of muscle weakness in early childhood, usually before age 10 years \- Onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement \- Slowly progressive \- High frequency of de novo mutations \- Variable severity \- Some patients may have isolated cardiac involvement \- Limb-girdle muscular dystrophy 1B (LGMD1B, 159001 ) is an allelic disorder with an overlapping phenotype \- See also X-linked EDMD ( 310300 ) MOLECULAR BASIS \- Caused by mutation in the lamin A/C gene (LMNA, 150330.0001 ) ▲ 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
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
|
c0410190
| 25,857 |
omim
|
https://www.omim.org/entry/181350
| 2019-09-22T16:35:00 |
{"doid": ["0070247"], "mesh": ["D020389"], "omim": ["181350"], "orphanet": ["98853", "264", "261"], "synonyms": ["Alternative titles", "EMD2", "EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT", "SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY", "MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT", "HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY", "CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FORMERLY", "MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B, FORMERLY"], "genereviews": ["NBK1436"]}
|
A number sign (#) is used with this entry because of evidence that Zimmermann-Laband syndrome-1 (ZLS1) is caused by heterozygous mutation in the KCNH1 gene (603305) on chromosome 1q32.
Description
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010).
### Genetic Heterogeneity of Zimmermann-Laband Syndrome
Zimmermann-Laband syndrome-2 (ZLS2; 616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21.
Clinical Features
Zimmermann (1928) is credited with the first description of this disorder in 2 patients (Kim et al., 2007).
Laband et al. (1964) and Alavandar (1965) reported 2 Asiatic Indian families (one living in the Caribbean and one in India) in which gingival fibromatosis occurred in association with 'whittling' of the terminal phalanges and absence or dysplasia of the fingernails. The report by Laband et al. (1964) described the disorder in a 38-year-old Trinidad woman and 5 of her 7 children. The mother showed large, soft ears, hypertension, hyperextensibility of metacarpophalangeal joints, and splenomegaly. The affected children had soft tissue enlargement of the nose and ears, splenomegaly, skeletal abnormalities, obscure or reduced size of toenails and thumbnails, short terminal phalanges, and hypermobility of several joints. The report by Alavandar (1965) described 5 affected persons in 3 generations with associated features of thickening of the soft tissues of the nose and ear with softness of the cartilages, hyperextensible joints, and hepatomegaly.
Chodirker et al. (1986) reported a case of this syndrome, which they called Zimmermann-Laband syndrome, with profound mental retardation. Pina-Neto et al. (1988) also reported a case with mental retardation. Van Buggenhout et al. (1995) stated that 23 patients, including 11 patients from 2 families, had been reported with Zimmermann-Laband syndrome. Most patients had normal intelligence, although some were mildly retarded. They reported a patient with ZLS and severe mental retardation and concluded that severe mental retardation can be a feature of the syndrome.
Robertson et al. (1998) reported on a 4-decade follow-up of a male with ZLS who developed a cardiomyopathy and dilatation of the aortic root and arch, anomalies previously undescribed in this disorder. From birth he had had a coarse face, protruding tongue, hirsutism, dry thick skin, hypotonia, umbilical hernia, and hepatosplenomegaly. Congestive heart failure due to patent ductus arteriosus (see 607411) resolved after spontaneous closure of the duct. At the age of 8 years, myopia and poorly developed teeth with hypertrophic gingival margins were additional features. Extensive areas of long downy body hair had required shaving from age 4 years. Liver, skin, and skeletal muscle histologic findings were all normal after extensive attempts to demonstrate storage material. He progressed to manual employment in a sheltered position, but did not achieve skills sufficient for independent living. A pericardial effusion of uncertain cause was detected during the second decade of life, and increasing dyspnea and reduced exercise tolerance necessitated the formation of a pleuropericardial window at age 24 years. Histologic findings of the pericardium were normal; no evidence for tuberculosis was found. Echocardiography demonstrated left atrial dilatation and progressive dilatation of the aortic arch from the aortic root to the descending aorta. At the age of 37 years his height was 167 cm and head circumference was 60 cm. Gingival fibromatosis was encroaching on the dental crowns and extending posteriorly along the palatal shelves. The thumbs and great toes were small and the toenails and fingernails hypoplastic.
In the report of a balanced reciprocal translocation in mother and daughter by Stefanova et al. (2003), the 40-year-old proposita had been referred to the dental clinic at age 16 years because of excessive gingival hypertrophy that completely covered the tooth crowns. She and her daughter, aged 5 years, showed gingival hyperplasia, large fleshy nose, macrostomia, full lips, large tongue, large thick eyelashes, and normal intelligence. The mother showed dystrophic fingernails and aplasia of the toenails, whereas the daughter had aplasia of both the fingernails and toenails, prominent ears, and generalized hirsutism.
Davalos et al. (2005) reported 2 unrelated children, a 9-year-old girl and an 11-month-old boy, with clinically and radiologically diagnosed ZLS who displayed previously unreported features: marked body overgrowth in both, cavernous hemangiomata in the frontal and left cerebellar regions in the boy, and unusual radiologic characteristics including broad medullary canals and metaphyses of the long bones, thin cortices, broad ribs, and accelerated skeletal maturation in the girl. The boy had psychomotor delay, whereas the girl had high intelligence (full IQ of 123). The girl's mother and 2 brothers also had mild hypertrichosis but no other features of ZLS; the boy's father had soft tissue enlargement of the nose, ears, and lips. Davalos et al. (2005) suggested that upon close examination, family members may be found to have mild expression of ZLS.
Balasubramanian and Parker (2010) studied a 5-year-old boy previously reported by Roper et al. (2005) as having a novel syndrome of brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus, and seizures, and suggested that the patient actually had Zimmermann-Laband syndrome. The boy also had renal calculi, nonautoimmune diabetes, and bilateral cataracts. Balasubramanian and Parker (2010) noted that the patient with ZLS reported by Shah et al. (2004) also had bilateral cataracts.
Chacon-Camacho et al. (2011) reported an 8-year-old girl who exhibited characteristic features of Zimmermann-Laband syndrome, including gingival overgrowth, facial dysmorphism, generalized hypertrichosis, intellectual disability, seizures, and hypoplasia of nails. In addition, she had colpocephaly, hemivertebra, polydactyly, segmental hyperpigmentation, and hemihyperplasia, thus expanding the phenotypic spectrum of the disease.
Davalos et al. (2011) reported a 9-year-old girl, born of healthy nonconsanguineous parents, with Zimmermann-Laband syndrome. The patient, who was born prematurely with polyhydramnios, had macrosomia, macrocephaly, generalized hypertrichosis, asymptomatic hepatomegaly, nail hypoplasia, and gingival hyperplasia. Facial dysmorphism included a wide forehead, thick eyebrows, downslanting palpebral fissures, a thick bulbous nose, thick antihelices and auricles, and a large mouth with thick lower lip. She had severe bilateral sensorineural hearing loss but normal intelligence. Radiologic features included wide medullary canals and wide metaphyses of the long bones with thin cortices. Her father had a bulbous nose and thick lips and auricles. No other family members were affected. Davalos et al. (2011) reviewed the clinical and radiologic features of 30 reported patients with ZLS, including their own.
Castori et al. (2013) described an unrelated girl and boy with Zimmermann-Laband syndrome and reviewed 50 previously published reports. The combination of gingival hypertrophy and nail hypoplasia or aplasia represented the core phenotype and was reported in 100% of patients. The most typical craniofacial presentation, reported in more than 50% of patients, consisted of soft ears and nose, large and bulbous nose, and thick lips or macrostomia. Additional commonly reported features included joint hypermobility, hypertrichosis, and hepatomegaly, with or without splenomegaly. Approximately 40% of patients presented with some degree of intellectual disability, and approximately 13% also suffered seizures.
Inheritance
Castori et al. (2013) reviewed 50 previously published reports of Zimmermann-Laband syndrome and stated that an autosomal dominant mutation with high mutation rate and rare instances of germline mosaicism seemed to represent the most likely inheritance pattern.
Population Genetics
Kim et al. (2007) stated that 39 patients with ZLS had been reported worldwide.
Cytogenetics
Stefanova et al. (2003) described an apparently balanced reciprocal t(3;8)(p21.2;q24.3) translocation in a mother and daughter with ZLS. Using FISH with BAC clones, the authors refined the breakpoints to chromosomes 3p21.2 and 8q24.3 and thereby narrowed both breakpoint regions to approximately 1.5 Mb. Thus the causative gene is located on 3p or 8q.
Kim et al. (2007) reported a boy with ZLS who had an apparently balanced de novo t(3;17)(p14.3;q24.3) translocation. FISH analysis localized the chromosome 3 breakpoint to a 200-kb region on chromosome 3p14.3. Kim et al. (2007) reassessed the chromosome 3p breakpoint described by Stefanova et al. (2003) and revised the breakpoint location to a 3.2-Mb region in chromosome 3p14.3 based upon an updated human genome sequence assembly. The results suggested that the gene responsible for ZLS is located at 3p14.3.
Molecular Genetics
By whole-exome sequencing in 5 unrelated patients with core features of ZLS, Kortum et al. (2015) identified heterozygosity for de novo missense mutations in the KCNH1 gene in 3 individuals (603305.0005-603305.0007), including an Italian boy originally reported by Castori et al. (2013). The remaining 2 patients carried the same missense mutation in the ATP6V1B2 gene (see 606939.0002 and ZLS2, 616455). Sequencing of the KCNH1 gene in an additional cohort of 19 patients exhibiting clinical features consistent with ZLS revealed 3 more individuals with missense mutations, including 2 Australian patients originally reported by Abo-Dalo et al. (2008) as patient 7 (603305.0008) and patient 9 (603305.0009). Kortum et al. (2015) noted that finding a KCNH1 or ATP6V1B2 mutation in 8 of 24 patients indicated further genetic heterogeneity in ZLS.
### Exclusion Studies
In 7 patients clinically diagnosed with ZLS, including patients previously reported by Koch et al. (1992), Pfeiffer et al. (1992), and Robertson et al. (1998), as well as 9 patients with a phenotype sharing some ZLS-specific features, including patients originally reported by Gohlich-Ratmann et al. (2000), Steiner and Marques (2000), Stewart et al. (2000), and Canun et al. (2003), Abo-Dalo et al. (2008) analyzed 9 genes involved in the WNT (see 164820) signaling pathway but did not find any disease-causing mutations.
Genotype/Phenotype Correlations
Kortum et al. (2015) noted that all 6 ZLS patients with mutations in the KCNH1 gene had a history of seizures, whereas the 2 patients with mutations in the ATP6V1B2 gene did not; in contrast, the latter 2 patients exhibited coarser facial features. Other clinical features, such as hearing loss and hypertrichosis, were variably present in the 8 ZLS patients.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Birthweight greater than 90th percentile HEAD & NECK Face \- Coarse facies \- Prominent mandible Ears \- Long, lobulated ears \- Posteriorly rotated ears \- Hearing loss, bilateral sensorineural (rare) Eyes \- Thick eyebrows \- Synophrys \- Myopia \- Cataracts Nose \- Broad nasal bridge \- Fleshy nose Mouth \- Thick lips \- Gingival fibromatosis \- Gingival hyperplasia \- High-arched palate Teeth \- Delayed tooth eruption CARDIOVASCULAR Heart \- Cardiomyopathy Vascular \- Patent ductus arteriosus \- Aortic root dilatation \- Aortic arch dilatation ABDOMEN External Features \- Umbilical hernia Liver \- Hepatomegaly \- Extrahepatic biliary atresia (rare) Spleen \- Splenomegaly GENITOURINARY External Genitalia (Male) \- Enlarged penis Kidneys \- Renal calculi (rare) SKELETAL Spine \- Scoliosis \- Spina bifida occulta Hands \- Hyperextensible fingers \- Hypoplastic distal phalanges Feet \- Hypoplastic distal phalanges SKIN, NAILS, & HAIR Skin \- Dry, thick skin Nails \- Hypoplastic nails Hair \- Hirsutism \- Hypertrichosis \- Thick eyebrows \- Synophrys MUSCLE, SOFT TISSUES \- Poor muscle bulk NEUROLOGIC Central Nervous System \- Hypotonia \- Seizures \- Mental retardation, severe in some patients METABOLIC FEATURES \- Diabetes, nonautoimmune (rare) MISCELLANEOUS \- Majority of cases are sporadic MOLECULAR BASIS \- Caused by mutation in the potassium channel, voltage-gated, subfamily H, member-1 gene (KCNH1, 603305.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
ZIMMERMANN-LABAND SYNDROME 1
|
c0796013
| 25,858 |
omim
|
https://www.omim.org/entry/135500
| 2019-09-22T16:41:10 |
{"mesh": ["C536725"], "omim": ["135500"], "orphanet": ["3473"], "synonyms": ["Alternative titles", "LABAND SYNDROME", "FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY"]}
|
Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.
People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.
## Frequency
The prevalence of hypomyelination and congenital cataract is unknown.
## Causes
Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how mutations in the FAM126A gene cause cataracts.
Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition.
People who have mutations that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.
### Learn more about the gene associated with Hypomyelination and congenital cataract
* FAM126A
## 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
|
Hypomyelination and congenital cataract
|
c1864663
| 25,859 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract/
| 2021-01-27T08:25:25 |
{"gard": ["11980"], "mesh": ["C567166"], "omim": ["610532"], "synonyms": []}
|
Bleeding from the nose
For other uses, see Nosebleed (disambiguation).
Nosebleed
Other namesEpistaxis, bloody nose, nasal hemorrhage[1]
A three-year-old child with a minor nosebleed from falling and hitting his face on the floor.
Pronunciation
* Epistaxis /ˌɛpɪˈstæksɪs/ EP-ih-STAK-sis
SpecialtyOtorhinolaryngology
SymptomsBleeding from the nose[1]
Usual onsetLess than 10 and over 50 years old[2]
Risk factorsTrauma, Excessive Nose-picking, Certain infections, blood thinners, high blood pressure, alcoholism, seasonal allergies, dry weather[3]
Diagnostic methodDirect observation[1]
Differential diagnosisBleeding from the lungs, esophageal varices[1]
PreventionPetroleum jelly in the nose[4]
TreatmentPressure over the lower half of the nose, nasal packing, endoscopy[5]
MedicationTranexamic acid[6]
Frequency60% at some point in time[7]
DeathsRare[3]
A nosebleed, also known as epistaxis, is bleeding from the nose.[1] Blood can also flow down into the stomach and cause nausea and vomiting.[8] In more severe cases blood may come out of both nostrils.[9] Rarely bleeding may be so significant low blood pressure occurs.[1] Rarely the blood can come up the nasolacrimal duct and out from the eye.[10]
Risk factors include trauma including putting the finger in the nose, blood thinners, high blood pressure, alcoholism, seasonal allergies, dry weather, and inhaled corticosteroids.[3] There are two types: anterior, which is more common; and posterior, which is less common but more serious.[3] Anterior nosebleeds generally occur from Kiesselbach's plexus while posterior bleeds generally occur from the sphenopalatine artery.[3] The diagnosis is by direct observation.[1]
Prevention may include the use of petroleum jelly in the nose.[4] Initially treatment is generally by applying pressure for at least five minutes over the lower half of the nose.[5] If this is not sufficient nasal packing may be used.[5] Tranexamic acid may also be helpful.[6] If bleeding episodes continue endoscopy is recommended.[5]
About 60% of people have a nosebleed at some point in their life.[7] About 10% of nosebleeds are serious.[7] Nosebleeds are rarely fatal, accounting for only 4 of the 2.4 million deaths in the U.S. in 1999.[11] Nosebleeds most commonly affect those younger than 10 and older than 50.[2]
## Contents
* 1 Cause
* 2 Pathophysiology
* 3 Prevention
* 4 Treatment
* 4.1 Nasal packing
* 4.2 Tranexamic acid
* 4.3 Cauterization
* 4.4 Surgery
* 4.5 Other
* 5 Society and culture
* 5.1 Etymology
* 6 References
* 7 External links
## Cause[edit]
Two children boxing, the one on the right having a nosebleed due to a punch to the face.
Nosebleeds can occur due to a variety of reasons. Some of the most common causes include trauma from nose picking, blunt trauma (such as a motor vehicle accident), or insertion of a foreign object (more likely in children).[4] Relative humidity (including centrally heated buildings), respiratory tract infections, chronic sinusitis, rhinitis or environmental irritants can cause inflammation and thinning of the tissue in the nose, leading to a greater likelihood of bleeding from the nose.[4]
Most causes of nose bleeding are self-limiting and do not require medical attention. However, if nosebleeds are recurrent or do not respond to home therapies, an underlying cause may need to be investigated. Some rarer causes are listed below:[2][4][12]
Coagulopathy
* Thrombocytopenia (thrombotic thrombocytopenic purpura, idiopathic thrombocytopenic purpura)
* Von Willebrand's disease
* Hemophilia
* Leukemia
* HIV
* Chronic liver disease—cirrhosis causes deficiency of factor II, VII, IX,& X
Dietary
* Sulfur dioxide (sulphur dioxide) E220 (as a food preservative used particularly in wines, dried fruits, etc. )
* Sulphites as food preservatives
* Salicylates naturally occurring in some fruits and vegetables
Inflammatory
* Granulomatosis with polyangiitis
* Systemic lupus erythematosus
Medications/Drugs
* Anticoagulation (warfarin, heparin, aspirin, etc)
* Insufflated drugs (particularly cocaine)
* Nasal sprays (particularly prolonged or improper use of nasal steroids)
Neoplastic
* Squamous cell carcinoma
* Adenoid Cystic Carcinoma
* Melanoma
* Nasopharyngeal carcinoma
* Nasopharyngeal angiofibroma
* Nosebleeds can be a sign of cancer in the sinus area, which is rare, or tumors starting at the base of the brain, such as meningioma. Due to the sensitive location, nosebleeds caused by tumors are typically associated with other symptoms, such as hearing or vision problems.[13]
Traumatic
* Anatomical deformities (e.g. septal spurs)
* Blunt trauma (usually a sharp blow to the face such as a punch, sometimes accompanying a nasal fracture)
* Foreign bodies (such as fingers during nose-picking)
* Digital trauma
* Middle ear barotrauma (such as from descent in aircraft or ascent in scuba diving)
* Nasal bone fracture
* Septal fracture/perforation
* Surgery (e.g. septoplasty and functional endoscopic sinus surgery)
* Nasal bleeds may be due to fracture of facial bones namely maxilla and zygoma.
Vascular
* Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)
* Angioma
* Aneurysm of the carotid artery
## Pathophysiology[edit]
The arteries that supply Kiesselbach's plexus (responsible for anterior nosebleeds)
The nasal mucosa contains a rich blood supply that can be easily ruptured and cause bleeding. Rupture may be spontaneous or initiated by trauma. Nosebleeds are reported in up to 60% of the population with peak incidences in those under the age of ten and over the age of 50 and appear to occur in males more than females.[14] An increase in blood pressure (e.g. due to general hypertension) tends to increase the duration of spontaneous epistaxis.[15] Anticoagulant medication and disorders of blood clotting can promote and prolong bleeding. Spontaneous epistaxis is more common in the elderly as the nasal mucosa (lining) becomes dry and thin and blood pressure tends to be higher. The elderly are also more prone to prolonged nosebleeds as their blood vessels are less able to constrict and control the bleeding.
The vast majority of nosebleeds occur in the anterior (front) part of the nose from the nasal septum. This area is richly endowed with blood vessels (Kiesselbach's plexus). This region is also known as Little's area. Bleeding farther back in the nose is known as a posterior bleed and is usually due to bleeding from Woodruff's plexus, a venous plexus situated in the posterior part of inferior meatus.[16] Posterior bleeds are often prolonged and difficult to control. They can be associated with bleeding from both nostrils and with a greater flow of blood into the mouth.[14]
Sometimes blood flowing from other sources of bleeding passes through the nasal cavity and exits the nostrils. It is thus blood coming from the nose but is not a true nosebleed, that is, not truly originating from the nasal cavity. Such bleeding is called "pseudoepistaxis" (pseudo \+ epistaxis). Examples include blood coughed up through the airway and ending up in the nasal cavity, then dripping out.
## Prevention[edit]
People with uncomplicated nosebleeds can use conservative methods to prevent future nosebleeds such as sleeping in a humidified environment or applying petroleum jelly to the nasal nares.[4]
## Treatment[edit]
Demonstration of how to apply pressure to stop a nosebleed
Most anterior nosebleeds can be stopped by applying direct pressure, which helps by promoting blood clots.[4] Those who suffer a nosebleed should first attempt to blow out any blood clots and then apply pressure for at least five minutes and up to 20 minutes.[4] Pressure should be firm and tilting the head forward helps decrease the chance of nausea and airway obstruction as seen in the picture on the right.[14] When attempting to stop a nosebleed at home, the head should not be tilted back.[2] Swallowing excess blood can irritate the stomach and cause vomiting. Vasoconstrictive medications such as oxymetazoline (Afrin) or phenylephrine are widely available over the counter for treatment of allergic rhinitis and may also be used to control benign cases of epistaxis.[17] Those with nosebleeds that last longer than 20 minutes (in the setting of direct pressure as seen in the image to the right) should seek medical attention.[4]
### Nasal packing[edit]
If pressure and chemical cauterization cannot stop bleeding, nasal packing is the mainstay of treatment.[18] There are several forms of nasal packing that can be contrasted by anterior nasal packing and posterior nasal packing.[19] Traditionally, nasal packing was accomplished by packing gauze into the nose, thereby placing pressure on the vessels in the nose and stopping the bleeding. Traditional gauze packing has been replaced with products such as Merocel and the Rapid Rhino.[18] The Merocel nasal tampon is similar to gauze packing except it is a synthetic foam polymer (made of polyvinyl alcohol and expands in the nose after application of water) that provides a less hospitable medium for bacteria.[4] The Rapid Rhino stops nosebleeds using a balloon catheter, made of carboxymethylcellulose, which has a cuff that is inflated by air to stop bleeding through extra pressure in the nasal cavity.[18] Systematic review articles have demonstrated that the efficacy in stopping nosebleeds is similar between the Rapid Rhino and Merocel packs; however, the Rapid Rhino has been shown to have greater ease of insertion and reduced discomfort.[18] People who receive nasal packing need to return to a medical professional in 24–72 hours in order to have packing removed.[4][3] There are also several dissolvable packing materials that stop bleeding through use of thrombotic agents that promote blood clots, such as surgicel.[4] The thrombogenic foams and gels do not require removal and dissolve after a few days. Posterior nasal packing can be achieved by using a Foley catheter, blowing up the balloon when it is in the back of the throat, and applying traction.[19] Complications of nasal packing include abscesses, septal hematomas, sinusitis, and pressure necrosis.[2] In rare cases toxic shock syndrome can occur with prolonged nasal packing. As a result, many forms of nasal packing involve use of topical antistaphylococcal antibiotic ointment.[2]
### Tranexamic acid[edit]
Tranexamic acid helps promote blood clotting.[6] For nosebleeds it can be applied to the site of bleeding, taken by mouth, or injected into a vein.[6]
### Cauterization[edit]
This method involves applying a chemical such as silver nitrate to the nasal mucosa, which burns and seals off the bleeding.[12] Eventually the nasal tissue to which the chemical is applied will undergo necrosis.[12] This form of treatment is best for mild bleeds, especially in children, that are clearly visible.[12] A topical anesthetic (such as lidocaine) is usually applied prior to cauterization. Silver nitrate can cause blackening of the skin due to silver sulfide deposit, though this will fade with time.[20]
### Surgery[edit]
Ongoing bleeding despite good nasal packing is a surgical emergency and can be treated by endoscopic evaluation of the nasal cavity under general anesthesia to identify an elusive bleeding point or to directly ligate (tie off) the blood vessels supplying the nose. These blood vessels include the sphenopalatine, anterior and posterior ethmoidal arteries. More rarely the maxillary or a branch of the external carotid artery can be ligated. The bleeding can also be stopped by intra-arterial embolization using a catheter placed in the groin and threaded up the aorta to the bleeding vessel by an interventional radiologist.[21] There is no difference in outcomes between embolization and ligation as treatment options, but embolization is considerably more expensive.[22] Continued bleeding may be an indication of more serious underlying conditions.[21]
### Other[edit]
The utility of local cooling of the head and neck is controversial.[23] Some state that applying ice to the nose or forehead is not useful.[24][25] Others feel that it may promote vasoconstriction of the nasal blood vessels and thus be useful.[26]
## Society and culture[edit]
In the visual language of Japanese manga and anime, a sudden, violent nosebleed indicates that the bleeding person is sexually aroused.[27][28] In Western fiction, nosebleeds often signify intense mental focus or effort, particularly during the use of psychic powers.[29][30]
In American and Canadian usage, "nosebleed section" or "nosebleed seats" are common slang for seating at sporting or other spectator events that are the highest up and farthest away from the event. The reference alludes to the propensity for nasal hemorrhage at high altitudes, usually owing to lower barometric pressure.
The oral history of the Native American Sioux tribe includes reference to women who experience nosebleeds as a result of a lover's playing of music, implying sexual arousal.[31]
In Finnish language, "picking blood from one's nose" and "begging for a nosebleed" are commonly used in abstract meaning to describe self-destructive behaviour, for example ignoring safety procedures or deliberately aggravating stronger parties.[32]
In Filipino slang, to "have a nosebleed" is to have serious difficulty conversing in English with a fluent or native English speaker. It can also refer to anxiety brought on by a stressful event such as an examination or a job interview.[33]
In the Dutch language, "pretending to have a nosebleed" is a saying that means pretending not to know anything about something.[34]
### Etymology[edit]
The word epistaxis is from Greek: ἐπιστάζω epistazo, "to bleed from the nose" from ἐπί epi, "above, over" and στάζω stazo, "to drip [from the nostrils]".
## References[edit]
1. ^ a b c d e f g Ferri, Fred F. (2013). Ferri's Clinical Advisor 2014 E-Book: 5 Books in 1. Elsevier Health Sciences. p. 399. ISBN 978-0-323-08431-4.
2. ^ a b c d e f Kucik, Corry J.; Clenney, Timothy (2005-01-15). "Management of epistaxis". American Family Physician. 71 (2): 305–311. ISSN 0002-838X. PMID 15686301.
3. ^ a b c d e f Tabassom, A; Cho, JJ (January 2020). "Epistaxis (Nose Bleed)". StatPearls. PMID 28613768.
4. ^ a b c d e f g h i j k l Morgan, Daniel J.; Kellerman, Rick (March 2014). "Epistaxis". Primary Care: Clinics in Office Practice. 41 (1): 63–73. doi:10.1016/j.pop.2013.10.007. ISSN 0095-4543. PMID 24439881.
5. ^ a b c d Tunkel, David E.; Anne, Samantha; Payne, Spencer C.; Ishman, Stacey L.; Rosenfeld, Richard M.; Abramson, Peter J.; Alikhaani, Jacqueline D.; Benoit, Margo McKenna; Bercovitz, Rachel S.; Brown, Michael D.; Chernobilsky, Boris; Feldstein, David A.; Hackell, Jesse M.; Holbrook, Eric H.; Holdsworth, Sarah M.; Lin, Kenneth W.; Lind, Meredith Merz; Poetker, David M.; Riley, Charles A.; Schneider, John S.; Seidman, Michael D.; Vadlamudi, Venu; Valdez, Tulio A.; Nnacheta, Lorraine C.; Monjur, Taskin M. (7 January 2020). "Clinical Practice Guideline: Nosebleed (Epistaxis) Executive Summary". Otolaryngology–Head and Neck Surgery. 162 (1): 8–25. doi:10.1177/0194599819889955. PMID 31910122.
6. ^ a b c d Joseph, Jonathan; Martinez-Devesa, Pablo; Bellorini, Jenny; Burton, Martin J (2018-12-31). Cochrane ENT Group (ed.). "Tranexamic acid for patients with nasal haemorrhage (epistaxis)". Cochrane Database of Systematic Reviews. 12: CD004328. doi:10.1002/14651858.CD004328.pub3. PMC 6517002. PMID 30596479.
7. ^ a b c Wackym, James B. Snow,... P. Ashley (2009). Ballenger's otorhinolaryngology : head and neck surgery (17th ed.). Shelton, Conn.: People's Medical Pub. House/B C Decker. p. 551. ISBN 9781550093377.
8. ^ Wilson, I. Dodd (1990). Walker, H. Kenneth; Hall, W. Dallas; Hurst, J. Willis (eds.). Clinical Methods: The History, Physical, and Laboratory Examinations (3rd ed.). Boston: Butterworths. ISBN 978-0409900774. PMID 21250251.
9. ^ Krulewitz, NA; Fix, ML (February 2019). "Epistaxis". Emergency Medicine Clinics of North America. 37 (1): 29–39. doi:10.1016/j.emc.2018.09.005. PMID 30454778.
10. ^ Riordan-Eva, Paul (2000). Vaughan and Asbury's General Ophthalmology. McGraw Hill Professional. p. 92. ISBN 978-0-07-137831-4.
11. ^ "Work Table I. Deaths from each cause by 5-year age groups, race and sex: US, 1999" (PDF). CDC. 2011. p. 1922. Retrieved 13 April 2020.
12. ^ a b c d Svider, Peter; Arianpour, Khashayar; Mutchnick, Sean (June 2018). "Management of Epistaxis in Children and Adolescents". Pediatric Clinics of North America. 65 (3): 607–621. doi:10.1016/j.pcl.2018.02.007. ISSN 0031-3955. PMID 29803286.
13. ^ "Nosebleeds & Headaches: Do You Have Brain Cancer?". Advanced Neurosurgery Associates. 2020-11-19. Retrieved 2020-12-14.
14. ^ a b c Corry J. Kucik; Timothy Clenney (January 15, 2005). "Management of Epistaxis". American Family Physician. American Academy of Family Physicians. 71 (2): 305–311. PMID 15686301. Retrieved January 31, 2010.
15. ^ J. F. Lubianca Neto; F. D. Fuchs; S. R. Facco; M. Gus; L. Fasolo; R. Mafessoni; A. L. Gleissner (1999). "Is epistaxis evidence of end-organ damage in patients with hypertension?". Laryngoscope. 109 (7): 1111–1115. doi:10.1097/00005537-199907000-00019. PMID 10401851. S2CID 22724992.
16. ^ The Journal of Laryngology & Otology (2008), 122: 1074–1077
17. ^ Guarisco JL, Graham HD (1989). "Epistaxis in children: causes, diagnosis, and treatment". Ear Nose Throat J. 68 (7): 522, 528–30, 532 passim. PMID 2676467.
18. ^ a b c d Iqbal, I. Z.; Jones, G. H.; Dawe, N.; Mamais, C.; Smith, M. E.; Williams, R. J.; Kuhn, I.; Carrie, S. (December 2017). "Intranasal packs and haemostatic agents for the management of adult epistaxis: systematic review". The Journal of Laryngology & Otology. 131 (12): 1065–1092. doi:10.1017/S0022215117002055. ISSN 0022-2151. PMID 29280695.
19. ^ a b Killick, N; Malik, V; Nirmal Kumar, B (Mar 2014). "Nasal packing for epistaxis: an evidence-based review". British Journal of Hospital Medicine. 75 (3): 143–7. doi:10.12968/hmed.2014.75.3.143. PMID 24621629.
20. ^ Béquignon, E.; Teissier, N.; Gauthier, A.; Brugel, L.; Kermadec, H. De; Coste, A.; Prulière-Escabasse, V. (2017-08-01). "Emergency Department care of childhood epistaxis". Emerg Med J. 34 (8): 543–548. doi:10.1136/emermed-2015-205528. ISSN 1472-0205. PMID 27542804. S2CID 4041588.
21. ^ a b MedlinePlus Medical Encyclopedia: Nosebleed U.S. National Library of Medicine Medline Plus service. Retrieved 2010-03-15.
22. ^ Villwock, JA; Jones, K (Dec 2013). "Recent trends in epistaxis management in the United States: 2008–2010". JAMA Otolaryngology–Head & Neck Surgery. 139 (12): 1279–84. doi:10.1001/jamaoto.2013.5220. PMID 24136624.
23. ^ Folz, BJ; Kanne, M; Werner, JA (November 2008). "[Current aspects in epistaxis]". HNO. 56 (11): 1157–65, quiz 1166. doi:10.1007/s00106-008-1838-3. PMID 18936903. S2CID 30534218.
24. ^ al.], edited by Roger Jones ... [et (2004). Oxford textbook of primary medical care (repr. ed.). Oxford: Oxford University Press. p. 711. ISBN 9780198567820.CS1 maint: extra text: authors list (link)
25. ^ Bissonnette, Bruno (2010). Pediatric Anesthesia. New York: McGraw-Hill Medical. p. 1182. ISBN 9781607950936.
26. ^ al.], A.Y. Elzouki ... [et (2011-10-29). Textbook of clinical pediatrics (2nd ed.). Berlin: Springer. p. 3968. ISBN 9783642022012.
27. ^ "Manga: The Complete Guide, reviewed by Richard von Busack". Metroactive. Retrieved 5 August 2011.
28. ^ Morgan, Joyce (February 10, 2007). "Superheroes for a complex world". The Sydney Morning Herald. Retrieved 5 August 2011.
29. ^ Tracey, Liz (30 August 2016). ""Stranger Things" and the Psychic Nosebleed". JSTOR Daily. Retrieved 6 November 2016.
30. ^ Meehan, Paul (2009-10-21). Cinema of the Psychic Realm: A Critical Survey. McFarland. p. 193. ISBN 9780786454747.
31. ^ Various (1984). Erdoes, Richard; Ortiz, Alfonso (eds.). American Indian Myths and Legends (2 ed.). Toronto, Ontario: Random House of Canada Limited. p. 274.
32. ^ "Finnish idioms and proverbs". saaressa.blogspot.fr. Retrieved 2017-12-19.
33. ^ OMG! Nosebleed! Say what?! Retrieved 28 August 2013
34. ^ "Doen alsof je neus bloedt". OnzeTaal. Retrieved 8 June 2020.
## External links[edit]
Wikimedia Commons has media related to Nosebleeds.
Classification
D
* ICD-10: R04.0
* ICD-9-CM: 784.7
* MeSH: D004844
* DiseasesDB: 18327
External resources
* MedlinePlus: 003106
* eMedicine: emerg/806 ent/701
* Patient UK: Nosebleed
* v
* t
* e
Symptoms and signs relating to the respiratory system
Auscultation
* Stethoscope
* Respiratory sounds
* Stridor
* Wheeze
* Crackles
* Rhonchi
* Stertor
* Squawk
* Pleural friction rub
* Fremitus
* Bronchophony
* Terminal secretions
* Elicited findings
* Percussion
* Pectoriloquy
* Whispered pectoriloquy
* Egophony
Breathing
Rate
* Apnea
* Prematurity
* Dyspnea
* Hyperventilation
* Hypoventilation
* Hyperpnea
* Tachypnea
* Hypopnea
* Bradypnea
Pattern
* Agonal respiration
* Biot's respiration
* Cheyne–Stokes respiration
* Kussmaul breathing
* Ataxic respiration
Other
* Respiratory distress
* Respiratory arrest
* Orthopnea/Platypnea
* Trepopnea
* Aerophagia
* Asphyxia
* Breath holding
* Mouth breathing
* Snoring
Other
* Chest pain
* In children
* Precordial catch syndrome
* Pleurisy
* Nail clubbing
* Cyanosis
* Cough
* Sputum
* Hemoptysis
* Epistaxis
* Silhouette sign
* Post-nasal drip
* Hiccup
* COPD
* Hoover's sign
* asthma
* Curschmann's spirals
* Charcot–Leyden crystals
* chronic bronchitis
* Reid index
* sarcoidosis
* Kveim test
* pulmonary embolism
* Hampton hump
* Westermark sign
* pulmonary edema
* Kerley lines
* Hamman's sign
* Golden S sign
Authority control
* GND: 4171181-6
* NDL: 00560692
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Nosebleed
|
c0014591
| 25,860 |
wikipedia
|
https://en.wikipedia.org/wiki/Nosebleed
| 2021-01-18T18:58:59 |
{"mesh": ["D004844"], "umls": ["C0014591"], "icd-9": ["784.7"], "icd-10": ["R04.0"], "wikidata": ["Q202013"]}
|
Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.
Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta.
People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.
## Frequency
Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
## Causes
Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome.
Mutations in the GNPTAB gene that cause mucolipidosis III alpha/beta result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III alpha/beta are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell.
Mutations in the GNPTAB gene can also cause a similar but more severe disorder called mucolipidosis II alpha/beta. These mutations completely eliminate the function of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.
### Learn more about the gene associated with Mucolipidosis III alpha/beta
* GNPTAB
## 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
|
Mucolipidosis III alpha/beta
|
c0033788
| 25,861 |
medlineplus
|
https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta/
| 2021-01-27T08:24:38 |
{"gard": ["3806"], "mesh": ["D009081"], "omim": ["252600"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly can be caused by mutation in the PITX1 gene (602149) on chromosome 5q31.
Description
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Nomenclature
Barker et al. (2003) noted that the term 'clubfoot' has variably included both acquired and congenital talipes equinovarus, and historically has even included other conditions such as calcaneovalgus and metatarsus adductus. Moreover, within the congenital group, the distinction between syndromic and isolated subgroups has not been consistent. They concluded that it is sometimes difficult to ascertain the significance of differences between reported series.
Clinical Features
Gurnett et al. (2008) described a 5-generation North American family of European descent segregating clubfoot. The proband had bilateral clubfoot, bilateral foot preaxial polydactyly, and right-sided tibial hemimelia. Five additional family members had clubfoot, 3 of whom had increased severity on the right. Some family members had additional lower limb malformations including patellar hypoplasia, oblique talus manifesting as pes planus, and developmental hip dysplasia. No upper extremity abnormalities or dysmorphic craniofacial features were noted.
Alvarado et al. (2011) performed an MRI of the lower limbs of a patient with unilateral clubfoot from the family originally studied by Gurnett et al. (2008), and observed a reduction in the overall size of the affected clubfoot limb, with reduced muscle and bone volumes. The limb was more severely affected below the knee. Although all muscle compartments were involved, the anterior compartment containing the tibialis anterior muscle was particularly small and partially replaced with fat. Magnetic resonance angiography demonstrated diminution of the anterior tibial and peroneal arteries on the affected limb compared with the unaffected limb.
Klopocki et al. (2012) studied 2 unrelated fetuses with microdeletions involving the PITX1 gene (602149; see MOLECULAR GENETICS). One fetus was stillborn with a prenatal diagnosis of high-degree polydactyly, hypoplasia of the corpus callosum, enlargement of the cisterna magna, and cardiomegaly; postmortem examination revealed a small median cleft palate, bilateral popliteal pterygia, and talipes equinovarus together with mirror-image polydactyly with 8 digits on each foot. The upper limbs showed no abnormalities. Dysmorphic features included low-set ears, downslanting palpebral fissures, mild hypertelorism, and a flat nasal bridge. The other fetus had a single lower leg bone on the left as well as mirror-image polydactyly of the right foot together with bilateral clubfoot; there were no abnormalities of the upper limbs.
Inheritance
Clubfoot appears to be multifactorial trait.
Gurnett et al. (2008) described a 5-generation family with asymmetric right-sided predominant clubfoot segregating as an autosomal dominant condition with incomplete penetrance.
Palmer (1964) suggested that 2 groups may exist: (1) a group with normal sex ratio, normal maternal age curve, recurrence risk of about 10% and probable dominant inheritance with about 40% penetrance; and (2) a group born to younger mothers with preponderance of males and no clear pattern of inheritance.
Book (1948) estimated that the risk of recurrence in subsequently born children in Caucasians is between 3 and 8% if 1 child is affected and about 10% if 1 child and 1 parent are affected.
Chung et al. (1969) performed a large-scale study of talipes equinovarus in Hawaii. They found an overall male to female sex ratio of approximately 2 to 1, no significant differences between isolated and familial cases, and no evidence of a maternal age effect. The incidence of uncomplicated TEV by major racial groups adjusted for incomplete ascertainment was highest in Hawaiians (6.81/1000 births), followed by Caucasians (1.12/1000 births) and then East Asians (0.56/1000 births).
Beals (1978) studied 50 consecutive Maori kindreds with a child with clubfoot who were treated at the same hospital in New Zealand during a 6-month period. The index patients were 31 males and 19 females. Empiric risk data indicated that if the index patient was female, the chance of subsequent children being affected was 4%, whereas if the index patient was male, the chance was 9%, and if parent and child were affected, the chance was 30%. These risks were much higher than those found in Caucasians by Book (1948) and Wynne-Davies (1964). As in Caucasians, inheritance appeared to be polygenic. The incidence of clubfoot in New Zealand Maori was estimated to be 6.5-7.0/1000 births.
Wang et al. (1988) used updated data on families with clubfoot originally reported by Palmer (1964) and concluded that the segregation pattern in these families is best explained by assuming the action of a major gene with additional contribution of multifactorial inheritance. The mixed model suggested that the major gene behaves largely as a dominant.
Chapman et al. (2000) analyzed the role of major gene and multifactorial inheritance in the etiology of clubfoot in the New Zealand Polynesian population by studying 287 clubfoot families. Using the computer program POINTER, they showed that the best genetic model for clubfoot in this population is a single dominant gene with a penetrance of 33% and a predicted gene frequency of 0.9%.
### Reviews
Dietz (2002) reviewed the genetics of idiopathic clubfoot.
Molecular Genetics
In affected members of a 5-generation family segregating clubfoot and various other lower extremity anomalies but without upper extremity abnormalities or dysmorphic craniofacial features, Gurnett et al. (2008) identified a missense mutation in the PITX1 gene (602149.0001).
Alvarado et al. (2011) screened 40 probands with isolated clubfoot who had at least 1 affected first-degree relative for genomic copy-number variations (CNVs), and identified a 241-kb microdeletion on chromosome 5q31 in 1 proband. The microdeletion (chr5:134,222,383-134,463,022, NCBI36) encompassed 4 genes, of which PITX1 was the only one that did not overlap a CNV previously observed in healthy individuals from the UCSC Database of Genomic Variants. The microdeletion, which was verified by quantitative PCR, was also present in the proband's affected mother and grandmother, and was not found in 700 controls. All 3 affected individuals had bilateral clubfoot and short stature (height more than 2 SD below the mean), but did not display any of the other features previously reported with PITX1 mutation, including tibial hemimelia, preaxial polydactyly, patellar hypoplasia, or developmental hip dysplasia. Alvarado et al. (2011) noted that isolated clubfoot has also been associated with deletions or duplications (see 613355 and 613618, respectively) involving the TBX4 gene (601719), which is a transcriptional target of PITX1.
In 2 unrelated fetuses with bilateral clubfoot and mirror-image polydactyly but no upper extremity anomalies, Klopocki et al. (2012) identified heterozygous deletions on chromosome 5q31 that encompassed the PITX1 gene, a de novo 5.7-Mb deletion (chr5:132,560,606-138,352,212, NCBI36) and a 4.9-Mb deletion (chr5:133,200,000-138,080,000, NCBI36), respectively. The authors then sequenced the PITX1 gene in 8 individuals with isolated higher-degree polydactyly and/or tibial hemimelia but normally developed upper extremities, and identified heterozygosity for a 35-bp deletion in exon 3 of the PITX1 gene (602149.0002) in an infant with bilateral preaxial polydactyly, talipes equinovarus, and right tibial hemimelia. Klopocki et al. (2012) concluded that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations, including clubfoot, deficiency of long bones, and mirror-image polydactyly.
Population Genetics
Kancherla et al. (2010) estimated the incidence of isolated clubfoot to be 11.4 per 10,000 livebirths in Iowa. Increased prevalence odds ratios (POR) were found for male sex (POR = 1.8) and maternal smoking during pregnancy (POR = 1.5). Low birth weight showed an increased POR for females (POR = 3.2), but not males (POR = 0.9).
Animal Model
Alvarado et al. (2011) generated Pitx1 +/- mice and observed clubfoot-like abnormalities in 20 of 225 Pitx1 +/- mice, for a penetrance of 8.9%. Clubfoot was unilateral in 16 of the 20 affected mice, with the right and left limbs equally affected. Peroneal artery hypoplasia occurred in the clubfoot limb and corresponded spatially with small lateral muscle compartments. Tibial and fibular bone volumes were also reduced. Skeletal muscle gene expression was significantly reduced in Pitx1 -/- hindlimb buds at embryonic day 12.5 compared to wildtype, suggesting that muscle hypoplasia was due to abnormal early muscle development and not disuse atrophy. Alvarado et al. (2011) concluded that PITX1 haploinsufficiency may cause a developmental field defect preferentially affecting the lateral lower leg.
INHERITANCE \- Autosomal dominant SKELETAL Limbs \- Tibial hemimelia (in some patients) \- Patellar hypoplasia, bilateral (in some patients) \- No anomalies of upper limbs Feet \- Talipes equinovarus (clubfoot) \- Oblique talus (in some patients) \- Preaxial mirror-image polydactyly (in some patients) MISCELLANEOUS \- Clubfoot is bilateral in most patients \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the paired-like homeodomain transcription factor-1 gene (PITX1, 602149.0001 ) ▲ 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
|
CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
|
c0009081
| 25,862 |
omim
|
https://www.omim.org/entry/119800
| 2019-09-22T16:43:08 |
{"doid": ["11836"], "mesh": ["D003025"], "omim": ["119800"], "icd-9": ["754.51"], "icd-10": ["Q66.89", "Q66.0"], "orphanet": ["293150", "199315", "293144"], "synonyms": ["Hereditary clubfoot due to PITX1 point mutation", "Hereditary clubfoot due to 5q31 microdeletion"]}
|
## Summary
### Clinical characteristics.
X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by a hemizygous pathogenic variant in IL2RG. In typical X-SCID lack of IL2RG function results in near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months with failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections. Males with atypical X-SCID may have immune dysregulation and autoimmunity associated with rashes, gastrointestinal malabsorption, and short stature.
### Diagnosis/testing.
In many states, testing for X-SCID is now frequently part of newborn screening. Follow-up confirmatory testing includes lymphocyte counts, lymphocyte subset enumeration by flow cytometry, and molecular testing of IL2RG, the only gene in which pathogenic variants are known to cause X-SCID. Absolute lymphocyte count compared to age-matched normal infants is usually low. The number of T cells is usually very low; B cells are generally present but nonfunctional; NK cells are low or absent. Sequence analysis of the IL2RG coding region detects a pathogenic variant in more than 99% of affected males.
### Management.
Treatment of manifestations: Immune reconstitution by bone marrow transplantation (BMT) or gene replacement therapy is required for survival; thus, diagnosis at as young an age as possible enables early immune reconstitution and prevents difficult-to-treat infections that may compromise vital organs. In the interval between diagnosis and immune reconstitution, management includes treatment of infections, immunoglobulin infusions and prophylactic antibiotics (particularly against Pneumocystis jirovecii), and isolation from cytomegalovirus (CMV) exposures.
Prevention of primary manifestations: BMT using HLA-matched bone marrow from a relative is presently the preferred option. Haploidentical parental bone marrow depleted of mature T cells or matched, unrelated bone marrow or cord blood stem cells can be used for transplantation as well, but each has particular conditioning and graft-versus-host disease risks to consider along with infection status. The best timing for BMT is immediately after birth. Infants undergoing transplantation in the first 3.5 months of life have a much higher rate of survival than those undergoing transplantation later. Long-term periodic administration of immunoglobulin may be required in those who fail to develop allogeneic, functional B lymphocytes. Gene therapy using retroviral transduction of autologous bone marrow stem/progenitor cells with a therapeutic gene has been successful for T-cell immune reconstitution for some individuals, but is presently only considered for those who are not candidates for BMT or have failed BMT.
Prevention of secondary complications: Pneumocystis jirovecii, viral and encapsulated organism prophylaxis should be applied per transplantation protocols; IVIG prophylaxis should be considered to maintain serum IgG levels above 400mg/dL; prompt evaluation of illness should occur until the individual is immunologically competent; avoid immunizations until after restoration of immunocompetence; only use CMV-negative, irradiated blood products; avoid breast feeding and exposure to young children to prevent CMV transmission to babies with X-SCID.
Surveillance: Monitor growth, immune and lung function, and gastrointestinal and dermatologic findings every 6-12 months after successful BMT.
Agents/circumstances to avoid: Live vaccines; transfusion of non-irradiated blood products; breast-feeding and breast milk; exposure to young children, sick contacts, or individuals with cold sores.
Evaluation of relatives at risk: When the pathogenic variant in the family is known, prenatal diagnosis of at-risk males allows preparation for bone marrow transplantation to be initiated before birth.
Therapies under investigation: A variety of second-generation therapeutic gene transfer vectors for X-SCID are presently under evaluation in clinical trials that have removed the likely cancer-causing elements from the vectors.
### Genetic counseling.
X-SCID is inherited in an X-linked manner. More than half of affected males have no family history of early deaths in maternal male relatives. If the mother of a proband is a heterozygote (carrier), the chance of transmitting the pathogenic variant in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes (carriers) and will not be affected. Males with X-SCID will pass the pathogenic variant to all of their daughters and none of their sons. Carrier testing of at-risk female relatives is most informative if the IL2RG pathogenic variant has been identified in an affected family member. Prenatal testing is possible for pregnancies at increased risk if the familial pathogenic variant is known.
## Diagnosis
### Suggestive Findings
X-linked severe combined immunodeficiency (X-SCID) should be suspected in male infants with recurrent or persistent infections that are severe, unresponsive to ordinary treatment, caused by opportunistic pathogens, or associated with failure to thrive or chronic diarrhea. Asymptomatic children with abnormal newborn screening or family history of X-SCID should be fully evaluated.
Supportive laboratory and radiographic findings
* Low T-cell receptor excision circles (TRECs) on newborn screening
* Marked lymphocytopenia (<3400 cells/mm3 for 0-3 months) and/or T-cell (CD3+) lymphopenia (<1500 cells/mm3)
* Severe defect in T-cell proliferation to the mitogen PHA (<10% of the lower limit of the reference/normal response)
* Marked decrease in thymic function: decreased or absent CD4+CD45RA+ naïve T cells or TRECs
* Absent thymic shadow on chest radiogram
* Decreased IL-21-induced STAT3 phosphorylation on functional testing compared to healthy controls, which indicates defective common-gamma chain function in B cells
* Negative HIV viral load testing (RNA/DNA assay)
### Newborn Screening
In 2010 the US Department of Health and Human Services recommended adding severe combined immunodeficiency (SCID) to the nationally reviewed uniform panel of conditions subject to newborn screening. Universal newborn screening for SCID is now available in most states: thirty-four states, the District of Columbia, and the Navajo Nation have implemented screening, and seven additional states (Alabama, Georgia, Louisiana, Maryland, North Carolina, Kentucky, and Tennessee) are expected to start screening in 2016.
* Low TREC detection from DNA extracted from the Guthrie blood spot indicates possible lymphopenia [Chan & Puck 2005, Baker et al 2009, Chase et al 2010].
* Newborn screening laboratories contact primary care physicians with positive (low) TREC results prompting further flow cytometric testing to assay for T-cell lymphopenia and confirmatory molecular genetic testing as indicated.
Educational materials from the Immune Deficiency Foundation website are available for families receiving an abnormal screen.
Lymphocyte count. The absolute lymphocyte count compared to age-matched normal infants is usually low (see Table 1) [Buckley et al 1997, Myers et al 2002, Shearer et al 2003].
* The number of T cells is usually very low.
* B cells are generally present, but dysfunctional.
* NK cells are low in number or absent.
Typical X-SCID is designated T–B+NK–.
### Table 1.
Lymphocyte Counts in Infants with X-Linked Severe Combined Immunodeficiency
View in own window
Cell TypeLymphocyte Counts% of Affected IndividualsControl Values
AverageRangeAverageRange
Total lymphocytes<2,00070%5,400 13,400-7,600 1
5,500 2>2,000 2
T cells2000-80090%-95% 33,680 12,500-5,500 1
B cells1,30044 - >3,000 495%730 1300-2,000 1
NK cells<10088%420 1170-1,100 1
Adapted from Conley et al [1990], Stephan et al [1993], Buckley et al [1997], Buckley et al [1999], Puck [1999], and unpublished data. See also Conley & Stiehm [1996].
1\.
0-3 months [Buckley 2012]
2\.
Cord blood [Altman 1961]
3\.
Individuals with atypical X-SCID caused by Arg222Cys or rare splice site variants may have detectable T cells [Fuchs et al 2014, Okuno et al 2015].
4\.
Two individuals with low B cells (44 and 50 cells/μL) were considered to have X-SCID based on family history [Stephan et al 1993].
Lymphocyte functional tests
* Antibody responses to vaccines and infectious agents are absent.
* T-cell responses to mitogens and/or anti-CD3 are lacking.
Immunoglobulin concentrations
* Serum concentrations of IgA and IgM are low.
* Serum concentration of IgG is generally normal at birth, but declines as maternally transferred IgG disappears by age three months.
### Establishing the Diagnosis
The diagnosis of X-SCID is established in a proband with identification of a hemizygous pathogenic variant in IL2RG by molecular testing (see Table 2).
Molecular testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:
* Single-gene testing. Sequence analysis of IL2RG is performed first followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
* A multigene panel that includes IL2RG 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) 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, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that contains IL2RG) fails to confirm a diagnosis in an individual with features of X-SCID. For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in X-Linked Severe Combined Immunodeficiency
View in own window
Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method
IL2RGSequence analysis 3, 4~99% 5, 6
Gene-targeted deletion/duplication analysis 7~1% 8
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 may require additional testing by deletion/duplication analysis.
5\.
Proportion of affected individuals with a pathogenic variant(s) as classified by test method [Noguchi et al 1993, Puck et al 1993, Puck 1996, Puck et al 1997a, Puck et al 1997b]
6\.
Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.
7\.
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.
8\.
Deletion/duplication analysis can be used to confirm a putative exon/whole-gene deletion in males after failure to amplify by PCR in the sequence analysis. To date, five large deletions in IL2RG have been reported [Clark et al 1995, Hacein-Bey et al 1996, Niemela et al 2000, Lee et al 2011, Zhang et al 2013].
## Clinical Characteristics
### Clinical Description
Typical X-linked severe combined immunodeficiency (X-SCID). Affected males appear normal at birth. As transplacental transfer of maternal serum antibody concentrations decline, infants with X-SCID are increasingly prone to infection. Most infants come to medical attention between age three and six months; however, presentation with life-threatening infection prior to three months is not uncommon. With more than 75% of states participating in newborn screening for SCID, a common presentation now is an asymptomatic, healthy appearing child.
Delayed diagnosis can lead to features such as failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections.
Infections that initially appear ordinary such as oral thrush, otitis media, respiratory viral infections (e.g., RSV, parainfluenza, adenovirus, influenza), and gastrointestinal diseases resulting in diarrhea may cause concern only when they persist or do not respond to usual medical management.
Less common features include the following:
* Disseminated infections (salmonella, varicella, cytomegalovirus [CMV], Epstein-Barr virus, herpes simplex virus, BCG, and vaccine strain [live] polio virus)
* Transplacental transfer of maternal lymphocytes to the infant prenatally or during parturition that causes graft-vs-host disease (GVHD) characterized by erythematous skin rashes, hepatomegaly, and lymphadenopathy [Denianke et al 2001]
* Recurrent bacterial meningitis
* In rare cases, neurologic features such as opisthotonus, infantile spasms, and hypsarrhythmia
Atypical X-SCID. Individuals with pathogenic variants that result in production of a small amount of gene product or a protein with residual activity are less frequently seen. These individuals may have an atypical disease characterized as T+B+NK– (in contrast to typical X-SCID, which is designated T–B+NK–). It is critical to perform functional testing when atypical X-SCID is suspected.
These individuals may have immune dysregulation and autoimmunity associated with rashes, splenomegaly, gastrointestinal malabsorption, and/or short stature [DiSanto et al 1994, Schmalstieg et al 1995, Morelon et al 1996, Stephan et al 1996, Fuchs et al 2014].
Additionally, rare cases of somatic reversion events resulting in a later-onset combined immunodeficiency in males inheriting a pathogenic IL2RG allele have been reported [Okuno et al 2015].
### Genotype-Phenotype Correlations
Most pathogenic variants causing typical X-SCID are functionally null.
Individuals with a missense or other potentially non-loss-of-function variant may have atypical X-SCID.
### Prevalence
The incidence of X-SCID is unknown; it is estimated to be at least 1:50,000-100,000 births.
Individuals from all ethnic groups are affected in equal frequency. Because of population structure, X-SCID may account for a larger proportion of individuals with all types of SCID in the United States than in Europe.
## Differential Diagnosis
Severe combined immunodeficiency (SCID) can be classified by the nature of T, B, and NK lymphocyte numbers and function (Table 3). Presence of each subclass of lymphocytes in most individuals of each genotype is indicated by (+); absence by (–). Since the implementation of newborn screening the incidence of each SCID type has become clearer; however, X-SCID remains one of the most common forms of SCID [Kwan et al 2014]. The clinical presentation of X-SCID, JAK3-SCID, and IL7R-SCID is identical. In X-SCID, only males are affected; in JAK3\- and IL7R-SCID, both males and females are affected.
### Table 3.
Types of Classic Severe Combined Immunodeficiency (SCID)
View in own window
DisorderGene(s)Lymphocyte PhenotypeMOIComments
TBNK
X-SCIDIL2RG–+–XLR
JAK3-SCID (OMIM 600802)JAK3AR
IL7R-SCID (OMIM 608971)IL7R–++AR
CD45 deficiency (OMIM 608971)PTPRC (previously CD45)–++/–AR
Adenosine deaminase deficiencyADA–––ARDelayed SCID if ADA deficiency is partial
RAG-deficient SCID (OMIM 601457)RAG1––+AR"Leaky SCID" due to hypomorphic alleles 1, increasingly detected w/newborn screening 2
RAG2––+
SCID Athabaskan (OMIM 602450)DCLRE1C––+AR10% carrier rate among Athabaskan-speaking Native Americans (e.g., Navajo, Apache)
TCR deficiencyCD3D, CD3E, CD247–/Low++ARRare
DNAPKCS deficiency (OMIM 615966)PRKDC––+ARRare
Reticular dysgenesis (OMIM 267500)AK2–––ARRare
CORO1a deficiency (OMIM 615401)CORO1A–/Low+/–+/–ARRare
AR = autosomal recessive; MOI = mode of inheritance; XLR = X-linked recessive
Molecular causes of SCID based on the International Union of Immunological Societies expert committee for primary immunodeficiency
1\.
See following: Newborn screening – Leaky SCID.
2\.
Kwan et al [2014]
Note: A growing list of rare causes of SCID-like phenotypes include pathogenic variants in the following additional genes: CD3G, CD8A, CHD7, CIITA, DOCK8, FOXN1, LCK, LIG4, MTHFD1, NBS1, NHEJ1, ORAI1, PCFT, PGM3, PNP, PRKDC, RFX-B, RFXANK, RFX5, RFXAP, RMRP, STIM1, TBX1, TTC7A, ZAP70.
Newborn screening results can show low or absent TRECs and clinically significant T lymphocytopenia (<1500 T cells/μL) in numerous conditions (adapted from criteria from Puck [2012]):
* Typical SCID. <300 autologous T cells/μL and <10% of normal proliferation to the mitogen PHA
* Leaky SCID. 300 to 1500 autologous T cells/μL and impaired but not absent (10%-30% of normal) proliferation to the mitogen PHA caused by a hypomorphic allele (partial loss of gene function) in a typical SCID-related gene
* Variant SCID. No defect in a known SCID-related gene and 300 to 1500 autologous T cells/μL with impaired function
* Syndromes with variably affected cellular immunity that may be severe, such as DiGeorge syndrome, CHARGE syndrome, Jacobsen syndrome, RAC2-dominant interfering variant, DOCK8-deficient hyper IgE syndrome, and cartilage-hair hypoplasia
* Transient lymphopenia and abnormal TREC screening associated with prematurity (<37 weeks adjusted gestational age). Repeat testing is warranted.
Not all T-cell disorders are detected with the TREC test despite the presence of impaired immune function. For example, individuals with MHC class II deficiency still retain CD8+ T cells and ZAP70 deficiency presents with very a high CD4/CD8 ratio. These individuals can present with a SCID-like phenotype.
Other X-linked immunodeficiencies include X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, X-linked hyper-IgM syndrome, X-linked lymphoproliferative disease, NEMO (X-linked ectodermal dysplasia with varying immunodeficiency) (see Incontinentia Pigmenti), IPEX (autoimmunity, polyendocrinopathy, enteropathy), chronic granulomatous disease (CGD), and properdin deficiency (OMIM 312060).
Human immunodeficiency virus (HIV). Infants with HIV may also have recurrent and opportunistic infections and failure to thrive. They have evidence of HIV virus by p24 antigen testing or PCR testing. In contrast to T cells in SCID, T cells in HIV are generally present although absolute T-cell numbers can be markedly reduced in some individuals.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with X-linked severe combined immunodeficiency (X-SCID), the following evaluations are recommended:
* History, including family history, growth and development, and localized and generalized infectious processes (e.g., diarrhea, failure to thrive, pneumonia, sepsis, viral and fungal infections)
* CBC and differential count to document absolute lymphocyte count, if not performed in the diagnostic work up
* Flow cytometric determination of T-cell, B-cell, and NK-cell numbers, if not performed in the diagnostic work up
* In vitro mitogen assay of mononuclear cells (using PHA, ConA, or PWM) and soluble antigens (Candida antigen, tetanus toxoid). Rarely, pathogenic variants in the TCR pathway can alter the ability to proliferate after stimulation in response to anti-CD3 stimulation, despite normal numbers of T lymphocytes.
* Functional screening of STAT3 phosphorylation after IL-21 stimulation to test functionality of the common-gamma chain
* Consultation with a specialist in immunodeficiency
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
The current goals of treatment include prophylaxis for infections and preemptive bone marrow transplant (BMT) prior to the development of symptoms (see Prevention of Primary Manifestations).
* An individual diagnosed with X-SCID requires emergent treatment to provide a functional immune system.
* Interim management includes treatment of infections and use of immunoglobulin infusions and antibiotics, particularly prophylaxis against Pneumocystis jirovecii (formerly Pneumocystis carinii) and, in most cases, fungal infections.
* Isolation from exposure to CMV (breast milk, young children, blood products) is indicated.
### Prevention of Primary Manifestations
Bone marrow transplantation (BMT). Prompt immune reconstitution is required for survival of children with X-SCID [Myers et al 2002]. BMT was first successful in 1968 and remains the standard means of immune reconstitution. The general experience is that genotypically HLA-identical marrow transplantation restores T-cell immunity in more than 90% of unconditioned individuals with SCID, although B-cell reconstitution occurs in only a limited subset of these individuals [O'Reilly et al 1989, Buckley et al 1999].
Although many centers have expertise in performing bone marrow transplantation in individuals with malignancy, the special issues arising in bone marrow transplantation for X-SCID require involvement of immunodeficiency specialists for an optimal outcome. Individuals with SCID have no immune system capable of rejecting the graft and, therefore, do not typically require fully ablative conditioning; regimens that do not employ agents at doses resulting in long-lasting marrow aplasia are referred to as reduced-intensity conditioning (RIC) regimens. Additionally, protocols including alpha/beta T-cell depletion in graft preparations are now being used to improve unrelated donor graft outcomes.
* HLA-matched bone marrow transplantation from a relative is preferred; however, most individuals lack a matched, related donor.
* For infants who do not have a matched, related donor, haploidentical parental bone marrow that has been depleted of mature T cells can be used [Buckley et al 1999, Pai et al 2014]. In this technique, the bone marrow is depleted of T cells in order to remove mismatched T cells, which would react against the baby's tissues and cause graft versus host disease (GVHD).
* Matched, unrelated donor transplantation of peripherally harvested bone marrow (or less frequently cord blood hematopoietic stem cells) in association with partially myeloablative or RIC regimens is now being used at specialized transplantation centers, although GVHD can be a significant problem in some individuals.
Mismatched T cells can react against the baby's tissues and cause GVHD. Cord blood from normal infants is now being banked; frozen cells can be thawed and used in other unrelated donor transplants.
The best timing for BMT is immediately after birth because young infants are less likely than older infants to have had serious infections or failure to thrive. The Primary Immune Deficiency Treatment Consortium (PIDTC) found in 25 centers over the last decade significantly better outcomes (>90% survival) in children receiving transplantation in early infancy (age <3.5 months) without prior infections even after alternative donor grafts were used [Pai et al 2014]. Younger infants also have more rapid engraftment, fewer post-transplantation infections, less GVHD, and shorter hospitalizations than those in whom BMT is delayed [Kane et al 2001, Myers et al 2002]. The optimal age and RIC regimen in young infants, however, remains to be determined. BMT after age 3.5 months and/or a history of infections resulted in a dramatic decrease in survival post transplantation.
Complications following BMT in some individuals include GVHD, failure to make adequate antibodies requiring long-term immunoglobulin replacement, late loss of T cells presumably due to failure to engraft hematopoietic stem cells, chronic warts, and lymphocyte dysregulation.
Administration of immunoglobulin. Long-term periodic administration of immunoglobulin may be required in those who fail to develop allogeneic, functional B lymphocytes after transplantation.
Gene therapy. Gene therapy has been evaluated in individuals not eligible for BMT, after failed BMT, and in individuals with only haploidentical donors. Gene therapy performed using autologous bone marrow stem/progenitor cells transduced with gamma-retroviral vectors expressing a therapeutic gene resulted in significant T-cell reconstitution in the majority of young infants with X-SCID, but only limited success in those with severe infections at the time of transplantation [reviewed in Fischer et al 2011, Hacein-Bey-Abina et al 2014].
* B-cell reconstitution was less consistent with roughly half being able to discontinue gamma-globulin replacement therapy.
* Unfortunately, between two early trials, five of 20 individuals developed leukemia-like disease requiring ALL-type therapy due to retroviral insertional activation of cellular growth regulatory genes [Howe et al 2008, Hacein-Bey-Abina et al 2010, Deichmann et al 2011]. Newer, second-generation vectors utilizing self-inactivating (SIN) gamma-retroviral vectors have shown similar efficacy in T-cell reconstitution with improved safety design, no adverse events reported in nine individuals over three years post transplantation, and significantly fewer insertions found in genes implicated in lymphoproliferation [Hacein-Bey-Abina et al 2014]. Clinical trials using an SIN-lentiviral vector in conjunction with busulfan-based partial myeloablative conditioning are underway for both infants and older individuals who have failed BMT. Initial results in a small number of older individuals have demonstrated sustained myeloid viral marking and restoration of T, B, and NK cell numbers and function [Author, personal communication].
See also Therapies Under Investigation.
### Prevention of Secondary Complications
Complications following BMT in some individuals include GVHD, failure to make adequate antibodies requiring long-term immunoglobulin replacement, late loss of T cells (presumably due to failure to engraft hematopoietic stem cells), chronic warts, lymphocyte dysregulation, and rarely, malignancy. All individuals have some degree of immunodeficiency, especially during the first six to 12 months following transplantation. PJP, viral and encapsulated organism prophylaxis should be applied per transplantation protocols. IVIG prophylaxis should be considered to maintain serum IgG levels above 400mg/dL. Prompt evaluation of illness should occur until the individual is deemed immunologically competent. Individuals with primary immunodeficiency post transplantation will require bacteriophage testing off all immunosuppressive therapy to determine eligibility for re-vaccination. Only CMV-negative, irradiated blood products should be used. Avoid breast feeding and exposure to young children to prevent CMV transmission to babies with X-SCID.
### Surveillance
After successful bone marrow transplantation, routine evaluation of affected boys every six to 12 months is appropriate to monitor donor cell engraftment, growth, immune and lung function, and gastrointestinal and dermatologic issues.
### Agents/Circumstances to Avoid
The following should be avoided:
* Live vaccines. All immunizations should be deferred until after restoration of immunocompetence.
* Transfusion of non-irradiated blood products. Only CMV-negative, irradiated (1500 to 5000 RADS) blood products should be used.
* Breast-feeding and breast milk, until maternal CMV status is established by CMV DNA PCR testing of a blood sample. CMV is a chronic infection and intermittent viral shedding in various bodily fluids occurs unpredictably. If such testing is negative and the mother is CMV serology negative, breast milk may rarely be considered safe for feeding. Frequent retesting of breast milk is required given the risk of primary infection in the mother. Pasteurization of breast milk remains controversial in preparation for BMT given the severe negative consequences in BMT outcomes.
* Exposure to young children, sick contacts, or individuals with cold sores
### Evaluation of Relatives at Risk
It is appropriate to clarify the genetic status of apparently asymptomatic at-risk male relatives of an affected individual by molecular genetic testing of the IL2RG pathogenic variant in the family in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures.
When the pathogenic variant in the family is known, prenatal diagnosis of at-risk males allows preparation for bone marrow transplantation to be initiated before birth. Most couples at risk of having an affected male have desired prenatal testing to help prepare for optimal treatment of an affected newborn: bone marrow transplantation centers were chosen, HLA testing of family members and the prenatal sample was carried out, and a search for a marrow donor could be initiated [Puck et al 1997a].
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
The following investigations are underway:
* Second-generation gene replacement strategies based on self-inactivating (SIN) gamma-retroviral (RV) and lentiviral (LV) vectors lacking the LTR enhancers with high insertional genotoxicity are in early clinical development (see ClinicalTrials.gov), and similar strategies based on self-inactivating foamy viral vectors are in pre-clinical development.
* Multi-institutional Phase I/II trials using an SIN RV vector carrying the IL2Rgamma cDNA have recently completed enrollment for infants with X-SCID performed without conditioning. Using the same SIN RV vector, the NIH has enrolled older males with X-SCID who had prior transplantation but did not achieve satisfactory immune reconstitution for a clinical trial using reduced-intensity conditioning.
* St Jude Children's Research Hospital and Seattle Children's Hospital are enrolling infants with X-SCID and the NIH is enrolling older males who had prior transplantation in SIN LV clinical trials using low dose busulfan conditioning.
* The PIDTC is developing a clinical trial assessing the impact of busulfan dose escalation in infants receiving marrow transplantation in classic SCID. This work may provide new information regarding optimal conditioning regimens for transplant and/or gene therapy.
Thus, it is anticipated that over the next several years, gene transfer therapies with improved safety and efficacy profiles will become increasingly available.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
X-Linked Severe Combined Immunodeficiency
|
c1279481
| 25,863 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1410/
| 2021-01-18T20:48:09 |
{"mesh": ["D053632"], "synonyms": ["SCIDX1", "X-Linked SCID", "X-SCID"]}
|
This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
## Epidemiology
It has been described in three girls born to a nonconsanguineous couple.
## Genetic counseling
The mode of transmission is unknown but autosomal recessive inheritance was suggested.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Thymic-renal-anal-lung dysplasia
|
c1848812
| 25,864 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3326
| 2021-01-23T17:34:41 |
{"gard": ["5202"], "mesh": ["C536907"], "omim": ["274265"], "umls": ["C1848812"], "icd-10": ["Q87.8"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-89 (DFNB89) is caused by homozygous mutation in the KARS gene (KARS1; 601421) on chromosome 16q23.
Clinical Features
Basit et al. (2011) reported 2 unrelated consanguineous Pakistani families with autosomal recessive nonsyndromic moderate to severe hearing loss affecting all frequencies. The onset of deafness was prelingual, and there was no apparent vestibular involvement.
Santos-Cortez et al. (2013) provided follow-up on the 2 Pakistani families with nonsyndromic deafness originally reported by Basit et al. (2011) (families 4338 and 4406), and described a third consanguineous Pakistani family (4284) with nonsyndromic deafness showing linkage to the DFNB89 locus. Santos-Cortez et al. (2013) noted that there were no other syndromic, vestibular, neurologic, or systemic abnormalities detected on physical examination of affected individuals in the 3 families. Air-conduction audiometry in 1 affected individual from each family showed symmetric bilateral severe to profound hearing impairment in the patients from families 4284 and 4338, and symmetric moderate to severe hearing impairment across all frequencies tested in the patient from family 4406.
Mapping
By genomewide linkage analysis of 2 unrelated consanguineous Pakistani families with autosomal recessive hearing loss, Basit et al. (2011) identified a locus, termed DFNB89, on chromosome 16q21-q23.2. Maximum lod scores of 6.0 and 3.7 were obtained for the respective families; the maximum multipoint lod for both families was 9.7. The shared region of homozygosity spanned 16.1 Mb between rs717293 and rs728929. Eight candidate genes were sequenced, but no potentially causal variants were found.
In a third Pakistani family with nonsyndromic deafness, Santos-Cortez et al. (2013) found suggestive linkage to the DFNB89 locus, with a maximum multipoint parametric lod score of 1.93.
Molecular Genetics
Santos-Cortez et al. (2013) performed whole-exome sequencing in 1 affected individual from each of 3 consanguineous Pakistani families with nonsyndromic deafness mapping to chromosome 16q21-q23.2, 2 of which had previously been studied by Basit et al. (2011), and identified 2 homozygous missense mutations in the KARS gene: 2 probands were homozygous for a Y173H substitution (601421.0003), and 1 was homozygous for a D377N substitution (601421.0004). Sequencing confirmed that both KARS variants segregated with disease in the respective families, and neither was found in 325 ethnically matched controls or in variant databases. Noting that compound heterozygosity for KARS mutations had previously been identified in a patient with a form of Charcot-Marie-Tooth disease (613641) and bilateral acoustic neuroma, Santos-Cortez et al. (2013) performed additional examinations in 3 affected individuals from 2 of the families but found no evidence for auditory or limb neuropathy in the DFNB89 patients.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss (affecting all frequencies), moderate to severe MISCELLANEOUS \- Prelingual onset MOLECULAR BASIS \- Caused by mutation in the lysyl-tRNA synthetase 1 gene (LARS1, 601421.0003 ) ▲ 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
|
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
c3151351
| 25,865 |
omim
|
https://www.omim.org/entry/613916
| 2019-09-22T15:57:02 |
{"doid": ["0110534"], "omim": ["613916"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
|
Myeloma cast nephropathy
Other namesCast nephropathy
Micrograph of myeloma cast nephropathy. Myelomatous casts are PAS negative (left of image). Hyaline casts are PAS positive (right of image). PAS stain. Kidney biopsy.
SpecialtyNephrology
Myeloma cast nephropathy, also referred to as light-chain cast nephropathy, is the formation of plugs (urinary casts) in the kidney tubules from free immunoglobulin light chains leading to kidney failure in the context of multiple myeloma. It is the most common cause of kidney injury in myeloma.[1]
In myeloma cast nephropathy, filtered κ or λ light chains that bind to Tamm-Horsfall protein precipitate in the kidney's tubules. Hypercalcemia and low fluid intake contribute to the development of casts.[2]
Myeloma cast nephropathy is considered to be a medical emergency because if untreated, it leads to irreversible kidney failure.[1]
It is diagnosed by histological examination of kidney biopsy.[1]
## See also[edit]
* Serum-free light-chain measurement
## References[edit]
1. ^ a b c Comprehensive Clinical Nephrology (6 ed.). Elsevier. 2019. pp. 767–775.
2. ^ Pocket Companion to Brenner and Rector's The Kidney (8 ed.). Elsevier. 2010. pp. 250-284.
Classification
D
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Myeloma cast nephropathy
|
c0268784
| 25,866 |
wikipedia
|
https://en.wikipedia.org/wiki/Myeloma_cast_nephropathy
| 2021-01-18T18:32:09 |
{"umls": ["C0268784"], "wikidata": ["Q1956557"]}
|
Obesity in Pakistan is a health issue that has effected Moaz concern only in the past few years. Urbanisation and an unhealthy, energy-dense diet (the high presence of oil and fats in Pakistani cooking), as well as changing lifestyles, are among the root causes contributing to obesity in the country. According to a list of the world's "fattest countries" published on Forbes, Pakistan is ranked 165 (out of 194 countries) in terms of its overweight population, with 22.2% of individuals over the age of 15 crossing the threshold of obesity.[1] This ratio roughly corresponds with other studies, which state one-in-four Pakistani adults as being overweight.[2][3]
Research indicates that people living in large cities in Pakistan are more exposed to the risks of obesity as compared to those in the rural countryside. As in larger cities, consumption of unhealthy diet like fast food and soft drink is common.[4] Beside this, World Health Organisation also shows that women have higher rates of obesity as compared to men.[5] Pakistan also has the highest percentage of people with diabetes in South Asia.[6]
According to one study, "fat" is more dangerous for South Asians than for Caucasians because the fat tends to cling to organs like the liver instead of the skin.[7]
## See also[edit]
* Smoking in Pakistan
## References[edit]
1. ^ Streib, Lauren (2 August 2007). "World's Fattest Countries". Forbes.
2. ^ "One in four adults is overweight or clinically obese". Gulf News. December 17, 2006.
3. ^ Epidemic of obesity in Pakistan - one in four Pakistanis may be overweight or obese Archived 2015-12-22 at the Wayback Machine
4. ^ Eating behaviours of urban and rural children from disadvantaged backgrounds (PDF). pp. 1–29.
5. ^ "Obesity and overweight". www.who.int. Retrieved 2020-11-14.
6. ^ Nanan, D.J. "The Obesity Pandemic - Implications for Pakistan". Journal of Pakistan Medical Association. Archived from the original on 2011-10-04. Retrieved 2011-07-02.
7. ^ Fat is more dangerous for South Asians: Study
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* Asia 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
|
Obesity in Pakistan
|
None
| 25,867 |
wikipedia
|
https://en.wikipedia.org/wiki/Obesity_in_Pakistan
| 2021-01-18T18:57:52 |
{"wikidata": ["Q25302544"]}
|
With abortion being legalized in Vietnam since the 1960s, it is one of the most liberal countries with respect to abortion laws and policies. Due to its focus on family planning, the State has enabled free and unrestricted access to abortion services and contraceptive services in the country. Vietnam also has one of the highest rates of abortion that has been surveyed in the world.[1]
## Legality of Abortion in Vietnam[edit]
There is limited information on the legal status of induced abortion in Vietnam.[2] Information suggests that abortion was available on request from at least 1971 and was available in the entire country since the 1975 unification. There are a number of laws that codify abortion rights in various ways. Due to its emphasis on family planning, abortion in Vietnam has been legalised without any restrictions on the reason for seeking the abortion.[3] Family planning was made a national priority upon the unification of Vietnam, leading to the incentivization of contraception and abortion acceptance.[2]
The Constitution of Vietnam ensures that men and women enjoy equal rights in all circumstances such as reproductive health: “The State, society, family and citizen have the responsibility to provide health care and protection to mother and children; and carry out the population and family planning program.”[4]
The Vietnamese National Assembly adopted the Law on Marriage and Family in 1960, which is based on four major principles – freedom of marriage; monogamy; gender equality; and the protection of women’s and children’s rights. The Law on the Protection of Public Health, that was passed on 30 June 1989, affirming people's right to make reproductive decisions over their body and choose their own contraceptive methods. [2] It states that: “Women have the rights to have abortion; to receive gynaecological diagnosis and treatment, and health check-up during pregnancy; and medical service when giving birth at health facilities.” [1]
By 1989, the Law on Protection of People’s Health was approved, affirming the people’s right to choose contraceptive methods.
In Article 6 of Decision No. 162 of the Council of Ministers in January 1989 obligated that the State was to provide, for free, birth control devices and public-health services for abortions to eligible persons – "The state will supply, free of charge, birth control devices, such as intrauterine loops and condoms, birth control pills and public health services for the insertion of intrauterine loops and abortions to eligible persons who are cadres, manual workers, civil servants or members of the armed forces, persons to whom priority is given under policy and poor persons who register to practice family planning." [5][2] Also, Decree No. 12/CP on the promulgation of Social Insurance Regulations authorizes sick leave for abortions.
Significantly, the Criminal Code of Vietnam does not contain any provisions that criminalise abortion practices, pointing to its unrestricted legality in the country.[2]
Family planning in Vietnam is helmed by the Ministry of Health (MOH) and National Committee for Population (NCPFP). Family planning and abortion services are provided through a network of MOH-approved healthcare centres, including central and provincial hospitals, provincial family planning centres, district hospitals and health centres, intercommunal polyclinics, and commune health centres.[1] MOH-approved physicians, assistant physicians and trained midwives are legally allowed to perform abortions.
As defined in the current National Abortion Standards and Guidelines (NASGs), abortion services are made accessible at three administrative levels of the health system: (1) abortion from six to 18 weeks from the last menstrual period (LMP) is available at central and provincial hospitals; (2) abortion from six to 12 weeks of LMP is also available at district health stations; and (3) communal health clinics may only offer abortion to women who are not more than six weeks pregnant.[1]
## Abortion Rates[edit]
Vietnam has one of the highest abortion rates in the world. A study conducted by the Hanoi Central Obstetrics Hospital found that 40% of all pregnancies in Vietnam are terminated each year.[6]
## References[edit]
1. ^ a b c d "More to Demand: Abortion in Vietnam". www.isiswomen.org. Retrieved 2018-09-28.
2. ^ a b c d e "Abortion Policy in Vietnam". United Nations (Word Document). Retrieved 28 September 2018.
3. ^ "Abortion in Asia". Guttmacher Institute. 2016-05-10. Retrieved 2018-09-28.
4. ^ Worrell, Marc. "Abortion law Vietnam". Women on Waves. Retrieved 2018-09-28.
5. ^ Ministers], [Council of (1989). "Vietnam's New Fertility Policy". Population and Development Review. 15 (1): 169–172. doi:10.2307/1973424. JSTOR 1973424.
6. ^ Fllek-Gibson, Dana. "Vietnam tackles high abortion rates". www.aljazeera.com. Retrieved 2018-09-28.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Abortion in Vietnam
|
None
| 25,868 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Vietnam
| 2021-01-18T18:56:47 |
{"wikidata": ["Q18237017"]}
|
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cardiocranial syndrome, Pfeiffer type
|
c1857495
| 25,869 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2872
| 2021-01-23T18:49:46 |
{"gard": ["8586"], "mesh": ["C535578"], "omim": ["218450"], "icd-10": ["Q87.8"], "synonyms": ["Craniosynostosis-congenital heart disease-intellectual disability syndrome", "Pfeiffer-Singer-Zschiesche syndrome"]}
|
A number sign (#) is used with this entry because resistance to graft-versus-host disease, and presumably susceptibility to graft-versus-host disease, is associated with variation in the interleukin-10 gene (IL10; 124092) on chromosome 1q32.
Description
Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).
At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see 604936), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).
Mapping
Resistance to GVHD is associated with variation in the IL10 gene, which Eskdale et al. (1997) mapped to chromosome 1q31-q32.
Molecular Genetics
In 993 transplant recipients, Lin et al. (2003) found that the -592AA genotype of IL10 (124092.0001), as compared with the CC genotype, was associated with a decreased risk of acute GVHD and death in remission. A haplotype analysis showed that the -592A allele was a specific marker for a promoter haplotype, TCATA, defined by 5 polymorphisms at positions -3575, -2763, -1082, -819, and -592, respectively. Among recipients of hematopoietic cells from an HLA-identical sib, the -592A allele was shown to be a marker of a favorable outcome after transplantation. Cooke and Ferrara (2003) commented on the usefulness of information on IL10 genotype in clinical practice.
Petersdorf and Malkki (2006) reviewed the genetics of risk factors for GVHD, including polymorphisms in IL10.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO
|
c0018133
| 25,870 |
omim
|
https://www.omim.org/entry/614395
| 2019-09-22T15:55:24 |
{"mesh": ["D006086"], "omim": ["614395"], "orphanet": ["39812"]}
|
Barrel chest due to chronic bronchitis and emphysema.
Barrel chest generally refers to a broad, deep chest found on a patient. A person with barrel chested will usually have a naturally large ribcage, very round (i.e., vertically cylindrical) torso, large lung capacity, and can potentially have great upper body strength. It can sometimes be found alongside acromegaly (an enlargement of the acra resulting from excess levels of human growth hormone (HGH) in the body). It is most commonly related to osteoarthritis as individuals age. Arthritis can stiffen the chest causing the ribs to become fixed in their most expanded position, giving the appearance of a barrel chest.[1]
Barrel chest refers to an increase in the anterior posterior diameter of the chest wall resembling the shape of a barrel, most often associated with emphysema. There are two main causes of the barrel chest phenomenon in emphysema:
1. Increased compliance of the lungs leads to the accumulation of air pockets inside the thoracic cavity.
2. Increased compliance of the lungs increases the intrathoracic pressure. This increase in pressure allows the chest wall to naturally expand outward.[2]
Barrel chest occurs naturally in native people who live at altitudes of over 5500 m, e.g. the Himalayas or the Andes. These natives also have polycythemia and other accommodations for high altitude life.[3]
## See also[edit]
* Barrel
* Pectus carinatum
* Respiratory examination
## References[edit]
1. ^ Rosenow III, M.D., Edward. "What causes barrel chest?". Mayo Clinic. Retrieved 14 March 2013.
2. ^ "Barrel chest: What causes it? - MayoClinic.com". Archived from the original on 23 October 2008. Retrieved 2008-11-20.
3. ^ Ganong's review of medical physiology
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Barrel chest
|
c0264172
| 25,871 |
wikipedia
|
https://en.wikipedia.org/wiki/Barrel_chest
| 2021-01-18T18:39:40 |
{"umls": ["C0264172"], "wikidata": ["Q1531933"]}
|
This article is about the congenital abnormality. For the genus of echinoderm, see List of prehistoric echinoderms.
Not to be confused with Diplopoda.
Diplopodia is a congenital anomaly in tetrapods that involves duplication of elements of the foot on the hind limb. It comes from the Greek roots diplo = "double" and pod = "foot". Diplopodia is often found in conjunction with other structural abnormalities[1] and can be lethal.[2] It is more extreme than polydactyly, the presence of extra digits.[3]
## Contents
* 1 Description
* 2 Causes
* 3 Diplopodia in humans
* 4 Diplopodia in chickens
* 5 See also
* 6 References
## Description[edit]
The affected leg usually has one foot that is in an approximately normal position.[3] The extra foot is composed of at least some metatarsal or tarsal bones and extra digits, though it is usually not complete.[3] The feet can be joined together, so that the limb appears to have one large foot,[3] or the extra foot can be joined to the limb separately, usually above the level of the other foot.[4] Diplopodia affects one or both of the hind limbs.[3]
## Causes[edit]
Recessive alleles of some genes involved in embryonic limb patterning produce bilateral diplopodia,[2][5] and diplopodia can be experimentally induced in early embryos.[6] Many instances of diplopodia in humans have no apparent cause.[1][7]
People have been able to produce diplopod limbs by increasing sonic hedgehog (shh) signaling in the limb buds of embryos. The zone of polarizing activity (ZPA) in the proximal posterior mesoderm of a tetrapod limb bud is responsible for maintaining the anterior-posterior axis of the growing limb.[8] The ZPA secretes shh protein, which induces formation of the distal segment of the limb, or autopod, with its posterior side facing the ZPA.[9] When ZPA cells,[6][8] non-ZPA cells made to express shh,[9] or simply shh protein-soaked beads[10] are implanted in the anterior side of a limb bud, the end of the resulting limb is duplicated, as in diplopodia. The posterior autopod on that limb has the normal orientation, and the extra, anterior autopod has a reversed anterior-posterior axis.[6][8] This is because the original ZPA and the added source of shh signaling each induce the formation of an autopod.[8]
## Diplopodia in humans[edit]
Diplopodia is often found in combination with aplasia or hypoplasia of the tibia.[1][3] Sometimes, the tibia is replaced by another fibula[1][7][11] The extra foot is almost always joined to the normal foot,[3] though a case was described where a nearly complete extra foot joined to the back of the ankle.[12]
## Diplopodia in chickens[edit]
People have identified five recessive lethal mutations in chickens that cause bilateral diplopodia.[5][13] The genes are numbered in the order of their discoveries, with the symbols dp-1, dp-2, dp-3, dp-4, and dp-5.
Chickens normally have an anisodactyl toe arrangement, with one short toe pointing backwards and three long toes pointing forwards. In diplopodia, the feet usually lack the normal hind toe and instead develop two to four extra toes at various positions between the hock joint and the front toes.[2][4][13][14][15] The toes are almost always connected to extra tarso-metatarsal bones,[2][4][5] though sometimes the toes do not contain any bone.[4] Embryos with diplopodia have been found with numbers of digits on one wing ranging from one to seven,[4][15][16] while normal embryos have three digits per wing. Diplopod limb buds first differ visibly from normal limb buds by their abnormally thick and long apical ectodermal ridges.[15][17][18][19] Diplopodia usually delays the embryonic growth of cartilage, bone, and tendon by two days, particularly in the limbs.[4] Other characteristics frequently seen in diplopodia mutants are shortened wings and legs,[5][16] short upper beak,[2][5][16] and smaller embryo size.[5][14] Many embryos reach the final embryonic stage but then are unable to hatch,[4][5][16] though, diplopod embryos can occasionally hatch and mature.[2]
Single diplopodia mutations produce wide ranges of phenotypes sharing these general characteristics and can even affect individual chickens' left and right legs differently.[14] The ranges of phenotypes produced by the different mutations also overlap broadly, so diplopodia mutations sometimes need to be distinguished by their phenotype distributions.[14] Dr. Ursula Abbott has extensively studied the phenotypes and descriptions of the first four diplopodia mutations and has ranked them from least severe to most severe: dp-3, dp-1, dp-4, dp-2.[16]
Diplopodia-1
This autosomal mutation gives homozygotes duplicated wing tips and feet in front of the usual structures, as in the experimentally induced diplopodia described above.[2][13] However, unlike the experimentally manipulated embryos, these embryos show no change in shh expression.[13] The embryos express hoxd-11, hoxd-12, hoxd-13, Bmp-2, and Fgf-4 along the whole edge of each limb bud, even though these genes are normally only expressed at the posterior edge.[13]
Diplopodia-2
This is an autosomal trait that gives a very extreme diplopod phenotype, with up to eight toes on a foot.[14] In some embryos, the two outer front toes on each foot are joined together.[14] The trait is now extinct and was never fully characterized.[16]
Diplopodia-3
This is an autosomal trait that may be the least severe of the five.
Diplopodia-4
This sex-linked mutation is similar to the previous mutations, but causes the embryo to grow thicker wing bones.[19]
Diplopodia-5
This is an autosomal mutation that gives embryos webbing between the inner two front toes on each foot, in addition to the usual characteristics of diplopodia.[5] Almost all of the embryos survive to the end of incubation, but they are unable to clear the fluid from their lungs or absorb the blood from their extraembryonic vessels.[5] These problems always prevent them from hatching.[5] Almost all diplopodia-5 embryos have only one or two extra toes on each foot, so this mutation causes the least extreme foot malformation.[5]
## See also[edit]
* Limb development
* Congenital abnormality
* Dysmelia
* Sonic hedgehog
* Polydactyly
## References[edit]
1. ^ a b c d Jones D, Barnes J, Lloyd-Roberts GC (February 1978). "Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management". J Bone Joint Surg Br. 60 (1): 31–9. PMID 627576.[permanent dead link]
2. ^ a b c d e f g Taylor, W.; C. Gunns (1947). "Diplopodia: a lethal form of polydactyly in chickens". Journal of Heredity. 38 (3): 66–76. doi:10.1093/oxfordjournals.jhered.a105693. PMID 20296125.
3. ^ a b c d e f g Karchinov K (August 1973). "Congenital diplopodia with hypoplasia or aplasia of the tibia. A report of six cases". J Bone Joint Surg Br. 55 (3): 604–11. PMID 4729026.[permanent dead link]
4. ^ a b c d e f g Abbott, Ursula (1959). "Further studies on diplopodia II. embryological features". Journal of Genetics. 56: 179–196. doi:10.1007/bf02984744.
5. ^ a b c d e f g h i j k Olympio, O.; R. Crawford & H. Classen (1983). "Genetics of the diplopodia-5 mutation in domestic fowl". Journal of Heredity. 74 (5): 341–343. doi:10.1093/oxfordjournals.jhered.a109806.
6. ^ a b c Summerbell, D.; Tickle, C. (1977). "Pattern formation along the antero-posterior axis of the chick limb bud". In Ede, D.; Hinchliffe, J.; Balls, M. (eds.). Vertebrate Limb and Somite Morphogenesis. New York: Cambridge University Press.
7. ^ a b Laurin, Carroll; J. Favreau & P. Labelle (January 1964). "Bilateral absence of the radius and tibia with bilateral reduplication of the ulna and fibula: a case report". J Bone Joint Surg Am. 46: 137–42. doi:10.2106/00004623-196446010-00014. PMID 14104303.
8. ^ a b c d Saunders, John; Gasseling, Mary (1968). "Ectodermal-mesenchymal interactions in the origin of limb symmetry". In Fleischmajer, Raul; Billingham, Rupert (eds.). Epithelial-Mesenchymal Interactions. Baltimore: Williams & Williams.
9. ^ a b Riddle, Robert, Randy Johnson, Ed Laufer, and Cliff Tabin (1993). "Sonic hedgehog mediates the polarizing activity of the ZPA". Cell. 75 (7): 1401–1416. doi:10.1016/0092-8674(93)90626-2. PMID 8269518.CS1 maint: multiple names: authors list (link)
10. ^ López-Martínez A, Chang DT, Chiang C, Porter JA, Ros MA, Simandl BK, Beachy PA, Fallon JF (July 1995). "Limb-patterning activity and restricted posterior localization of the amino-terminal product of Sonic hedgehog cleavage". Curr. Biol. 5 (7): 791–6. doi:10.1016/S0960-9822(95)00156-4. PMID 7583126.
11. ^ Narang IC, Mysorekar VR, Mathur BP (1982). "Diplopodia with double fibula and agenesis of tibia. A case report". J Bone Joint Surg Br. 64 (2): 206–9. doi:10.1302/0301-620X.64B2.7068742. PMID 7068742.[permanent dead link]
12. ^ Brower, Jason; Sandra Wootton-Gorges; John Costouros; Jennette Boakes & Adam Greenspan (2003). "Congenital diplopodia". Pediatric Radiology. 33 (11): 797–799. doi:10.1007/s00247-003-1017-3. PMID 12961041.
13. ^ a b c d e Rodriguez C, Kos R, Macias D, Abbott UK, Izpisúa Belmonte JC (1996). "Shh, HoxD, Bmp-2, and Fgf-4 gene expression during development of the polydactylous talpid2, diplopodia1, and diplopodia4 mutant chick limb buds". Developmental Genetics. 19 (1): 26–32. doi:10.1002/(SICI)1520-6408(1996)19:1<26::AID-DVG3>3.0.CO;2-2. PMID 8792606.
14. ^ a b c d e f Landauer, Walter (1956). "A second diplopod mutation of the fowl". Journal of Heredity. 47 (2): 57–63. doi:10.1093/oxfordjournals.jhered.a106607.
15. ^ a b c Maccabe, Jeffrey, Astrida Maccabe, Ursula Abbott, and John McCarrey (1975). "Limb development in Diplopodia4: a polydactylous mutation in the chicken". Journal of Experimental Zoology. 191 (3): 383–393. doi:10.1002/jez.1401910309. PMID 1127402.CS1 maint: multiple names: authors list (link)
16. ^ a b c d e f Taylor LW (June 1972). "Further studies on diplopodia. V. Diplopodia-3". Can. J. Genet. Cytol. 14 (2): 417–22. doi:10.1139/g72-052. PMID 4559559.
17. ^ Coelho CN, Upholt WB, Kosher RA (June 1992). "Role of the chicken homeobox-containing genes GHox-4.6 and GHox-8 in the specification of positional identities during the development of normal and polydactylous chick limb buds". Development. 115 (2): 629–37. PMID 1358596.
18. ^ Maccabe, Jeffrey; Ursula Abbott (1974). "Polarizing and maintenance activities in two polydactylous mutants of the fowl: diplopodia1 and talpid2". Journal of Embryology and Experimental Morphology. 31: 735–746.
19. ^ a b Abbott, Ursula; M. Kieny (1961). "Sur la croissance in vitro du tibiotarse et du péroné de l'embryon de poulet "diplopode"". Comptes rendus de l'Académie des Sciences. 252: 1863–1865.
* v
* t
* e
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Diplopodia
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c0266738
| 25,872 |
wikipedia
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https://en.wikipedia.org/wiki/Diplopodia
| 2021-01-18T19:10:25 |
{"umls": ["C0266738"], "wikidata": ["Q5279950"]}
|
Coronary ischemia, myocardial ischemia,[1] or cardiac ischemia,[2] is a medical term for a reduced blood flow in the coronary circulation through the coronary arteries.[3] Coronary ischemia is linked to heart disease, and heart attacks.[4] Coronary arteries deliver oxygen-rich blood to the heart muscle.[5] Reduced blood flow to the heart associated with coronary ischemia can result in inadequate oxygen supply to the heart muscle.[6] When oxygen supply to the heart is unable to keep up with oxygen demand from the muscle, the result is the characteristic symptoms of coronary ischemia, the most common of which is chest pain.[6] Chest pain due to coronary ischemia commonly radiates to the arm or neck.[7] Certain individuals such as women, diabetics, and the elderly may present with more varied symptoms.[8] If blood flow through the coronary arteries is stopped completely, cardiac muscle cells may die, known as a myocardial infarction, or heart attack.[9]
Coronary artery disease (CAD) is the most common cause of coronary ischemia.[7] Coronary ischemia and coronary artery disease are contributors to the development of heart failure over time.[10] Diagnosis of coronary ischemia is achieved by a attaining a medical history and physical examination in addition to other tests such as electrocardiography (EKG), stress testing, and coronary angiography.[11] Treatment is aimed toward preventing future adverse events and relieving symptoms.[12] Beneficial lifestyle modifications include smoking cessation, a heart healthy diet, and regular exercise.[13] Medications such as nitrates and beta-blockers may be useful for reducing the symptoms of coronary ischemia.[6] In refractory cases, invasive procedures such as percutaneous coronary intervention (PCI) or coronary artery bypass graft (CABG) may be performed to relieve coronary ischemia.[14]
## Contents
* 1 Symptoms and signs
* 1.1 Typical
* 1.2 Atypical
* 2 Causes
* 3 Consequences
* 4 Diagnosis
* 4.1 Electrocardiogram
* 4.2 Exercise stress electrocardiogram
* 4.3 Stress echocardiography
* 4.4 Coronary angiography
* 5 Treatment
* 5.1 Smoking cessation
* 5.2 Healthy diet
* 5.3 Physical activity
* 5.4 Medication-based therapy
* 5.5 Coronary revascularization
* 6 References
* 7 External links
## Symptoms and signs[edit]
A key symptom of coronary ischemia is chest pain or pressure, known as angina pectoris.[4] Angina may present typically with classic symptoms or atypically with symptoms less often associated with heart disease.[15] Atypical presentations are more common women, diabetics, and elderly individuals.[8]
### Typical[edit]
Angina is typically located below the sternum.[4] Individuals experiencing angina characterize the pain in different ways, but the pain is usually described as crushing, squeezing, or burning.[7] Symptoms may worsen over the course of several minutes.[4] Typical angina is aggravated by physical activity or emotional stress and is relieved by rest or nitroglycerin.[4] The pain may radiate to other parts of the body, most commonly the left arm or neck.[7] In some individuals, the pain may be less severe and present as pressure or numbness.[7] Less commonly, the pain may radiate to both arms, the jaw, or to the back.[16]
### Atypical[edit]
Women, diabetic individuals, and elderly individuals are more likely to present with atypical symptoms other than chest pain.[8] Women may present with back pain, shortness of breath, heartburn, nausea, and vomiting.[15] Heart disease in women goes undetected prior to a major cardiac event in up to 60% of cases.[15] Among women who experience a heart attack, many do not have any prior chest pain.[15] Due to alterations in sensory pathways, diabetic and elderly individuals also may present without any chest pain and may have atypical symptoms similar to those seen in women.[8]
## Causes[edit]
Coronary artery disease (CAD) occurs when fatty substances, known as plaques, adhere to the walls of coronary arteries supplying the heart, narrowing them and constricting blood flow, a process known as atherosclerosis, the most common cause of coronary ischemia.[17] Angina may start to occur when the vessel is 70% occluded.[9] Lack of oxygen may also result in a myocardial infarction (heart attack).[18] CAD can be contracted over time. Risk factors include a family history of CAD, smoking, high blood pressure, diabetes, obesity, inactive lifestyle and high cholesterol.[18] Angina can can also occur due to spasm of the coronary arteries, even in individuals without atherosclerosis.[19] In coronary artery spasm, the vessel constricts to limit blood flow through the artery, causing a decrease in oxygen supply to the heart, although the mechanisms for this phenomenon are not fully understood.[19]
## Consequences[edit]
Coronary ischemia can have serious consequences if it is not treated. Plaques in the walls of the coronary arteries can rupture, resulting in occlusion of the artery and deprivation of blood flow and oxygen to the heart muscle, resulting in cardiac cell death.[9] This is known as myocardial infarction.[9] A heart attack can cause arrhythmias, as well as permanent damage to the heart muscle.[17] Coronary ischemia resulting from coronary artery disease also increases the risk of developing heart failure.[10] Most cases of heart failure result from underlying coronary artery disease.[10] A myocardial infarction carries a greater than five-fold increase in relative risk for developing heart failure.[10]
## Diagnosis[edit]
If coronary ischemia is suspected, a series of tests will be undertaken for confirmation. The most common tests used are an electrocardiogram, an exercise stress test, and a coronary angiography.[20] A medical history will be taken, including queries about past incidences of chest pain or shortness of breath. The duration and frequency of symptoms will be noted as will any measures taken to relieve the symptoms.[20]
### Electrocardiogram[edit]
A resting electrocardiogram (EKG) is an early step in the diagnostic process.[11] An electrocardiogram (EKG) involves the use of electrodes that are placed on the arms, chest, and legs.[20] These sensors detect any abnormal rhythms that the heart may be producing. This test is painless and it helps detect insufficient blood flow to the heart.[20] An EKG can also detect damage that has been done in the past to the heart.[21] This test can also detect any thickening in the walls of the left ventricles as well as any defects in the electrical impulses of the heart.[20] It is quick and provides the Physician with the P/PR, Heart Rate, QRS, QT/QTcF, P/QRS/T, and axis results.[22][23]
### Exercise stress electrocardiogram[edit]
A cardiac stress test, puts stress on the heart through exercise. A series of exercises to measure the tolerance for stress on the heart will be carried out. This test uses an EKG to detect the electrical impulses of the heart during physical exertion.[20]
A treadmill or exercise bike will be used. The incline or resistance of the bike are steadily increased until the target heart rate for the person's age and weight is reached.[20] However, an exercise stress test is not always accurate in determining the presence of a blockage in the arteries.[11] Women and those who are young may show abnormalities on their test even though no signs of coronary ischemia or CAD are present.[20] Harmless arrhythmias present at baseline may distort the results.[11] Diagnosis of coronary artery disease is missed in 37% of men and 18% of women with a negative test.[24] However, those patients who are able to complete the test are at lower risk of future cardiac events.[11]
### Stress echocardiography[edit]
Stress echocardiography is very commonly used in assessing for ischemia resulting from coronary artery disease. It can be performed exercising, preferably with a bicycle that allows the patient to exercise while lying flat, which allows for imaging throughout the entire testing period.[24] While the patient is exercising, images of the heart in motion are generated.[25] Ischemia can be detected by visualizing abnormalities in the movement of the heart and the thickness of the heart wall during exercise.[25]
Some people may be unable to exercise in order to achieve a sufficient heart rate for a useful test. In these cases, high-dose dobutamine may be used to chemically increase heart rate.[11] If dobutamine is insufficient for this purpose, atropine be added to reach goal heart rate.[11] Dipyridamole is an alternative to dobutamine but it is less effective in detecting abnormalities.[25] While exercise echocardiograms are more effective in detecting coronary artery disease, all forms of stress echocardiograms are more effective than exercise EKG in detecting coronary ischemia secondary to coronary artery disease.[11] If stress echocardiography is normal, risk of future adverse cardiac events is low enough that invasive coronary angiography is not needed.[25]
### Coronary angiography[edit]
A coronary angiography is performed after a stress test or EKG shows abnormal results.[26] This test is very important in finding where the blockages are in the arteries.[20] This test helps determine if an angioplasty or bypass surgery is needed.[27] Coronary angiography should only be performed if a patient is a willing to undergo a coronary revascularization procedure.[28]
During this test the doctor makes a small incision in the patient's groin or arm and inserts a catheter.[26] The catheter has a very small video camera on the end of it so that the doctor can find the arteries.[20] Once he/she has found the arteries, he/she injects a dye in them so that he/she can detect any blockages in the arteries.[26] The dye is able to be seen on a special x-ray machine.[20] The test takes one to two hours.
## Treatment[edit]
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Coronary ischemia can be treated but not cured.[29] By changing lifestyle, further blockages can be prevented.[30] A change in lifestyle, mixed with prescribed medication, can improve health.[13] In some cases, coronary revascularization procedures may be used.[14]
### Smoking cessation[edit]
Tobacco smoking is a clear risk factor for development of coronary artery disease.[13] Exposure to second hand smoke also has clear cardiovascular risks.[13] Tobacco smokers have higher levels of cholesterol and triglycerides which are risk factors for development of coronary artery disease.[31] Smoking has been shown in numerous studies to accelerate atherosclerosis by several years.[30] A study showed that those who quit smoking reduced their risk of being hospitalized over the next two years.[29] The benefits of smoking cessation are greater the longer an individual has been abstinent from tobacco.[30] After two years of smoking cessation, risk of heart attack can be cut in half.[31] Smoking cessation has a significant mortality benefit regardless of age.[13] Nicotine replacement therapy, bupropion, and varenicline are safe therapies that improve the likelihood of smoking cessation.[31]
### Healthy diet[edit]
A healthy diet is a very important factor in preventing coronary ischemia or coronary artery disease.[29] A heart-healthy diet is low in saturated fat and cholesterol and high in fruits, vegetables, and whole grains.[30] Recent studies have shown that there is an inverse correlation between increased fruit and vegetable intake and the risk of CAD.[13] A mortality benefit has been seen in individuals with higher intake of whole grains.[32] These food choices can reduce the risk of a heart attack or any other congestive heart failure event.[29] These foods may also slow further growth of plaques in the coronary arteries and reduce further ischemia.[30]
### Physical activity[edit]
By increasing physical activity, it is possible to manage body weight, reduce blood pressure, and relieve stress.[29] Moderate intensity exercise of 30–60 minutes per day for 5–7 days per week is recommended.[13] Moderate intensity exercise is defined as exercise that increases heart rate to 55-74% of maximum heart rate.[33] High intensity exercise increasing the heart rate to 70-100% of maximum heart rate for shorter intervals as at least as effective, and this type of exercise may increase oxygen uptake by the heart compared to moderate intensity exercise.[34] Per the Center for Disease Control, an estimate of maximum heart rate for an individual can be calculated by subtracting age from 220.[35] Exercising this way can reduce the risk of getting heart disease or coronary ischemia.[29]
### Medication-based therapy[edit]
Medication-based therapy for coronary ischemia should be focused on reducing the likelihood of future adverse cardiac events and treating symptoms of coronary ischemia such as angina.[36] Key medications with strong evidence of benefit include aspirin, or alternatively clopidogrel.[36] These medications help to prevent clots in the coronary artery and the occlusion which can lead to a heart attack.[37] Angiotensin-converting enzyme inhibitors are indicated in individuals with diabetes, kidney disease, and hypertension.[36] Statin medications help to reduce cholesterol and plaque formation and may even contribute to plaque regression.[38]
Other medications may be used to reduce the symptoms of coronary ischemia, particularly angina. Long and short acting nitrates are one option for reducing anginal pain.[6] Nitrates reduce the symptoms of angina by dilating blood vessels around the heart, which increases oxygen-rich blood supply to the muscle cells of the heart.[39] Veins are also dilated, which reduces return of blood to the heart, easing strain on the heart muscle.[39] Short-acting nitrates can be taken upon the onset of symptoms and should provide relief within minutes.[6] Nitroglycerin is the most common short-acting nitrate and it is applied under the tongue.[6] Long acting nitrates are taken 2-3 times per day and can be used to prevent angina.[6] Beta-blockers may also be used to reduce the incidence of chronic angina.[6] Beta-blockers prevent episodes of angina by reducing heart rate and reducing the strength of contraction of the heart, which lowers oxygen demand in the heart.[6]
### Coronary revascularization[edit]
In individuals with symptoms that are not well controlled with medical and lifestyle therapy there are invasive options available including percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG).[28] PCI involves placing a stent to relieve coronary artery blockages.[12] CABG involves grafting new blood vessels to provide a new route for blood flow around the blocked vessel.[12] Choice of treatment is based on the number of coronary vessels with blockages, which vessels are effected, and the medical history of the patient.[28] There is not sufficient evidence to suggest that PCI or CABG provides a mortality benefit in individuals with stable coronary ischemia.[14] The long term efficacy of these procedures in terms of reducing symptoms is still in question.[6][14]
## References[edit]
1. ^ "Myocardial ischemia". Mayo Clinic. Retrieved 2019-11-29.
2. ^ Potochny, Evy. "Cardiac Ischemia Symptoms." LiveStrong. Demand Media, 9 March 2010. Web. 6 Nov. 2010.
3. ^ "Sacred Heart Medical Center. Spokane, Washington. Coronary Ischemia". Shmc.org. Retrieved 2008-12-28.
4. ^ a b c d e Kloner, Robert A.; Chaitman, Bernard (May 2017). "Angina and Its Management". Journal of Cardiovascular Pharmacology and Therapeutics. 22 (3): 199–209. doi:10.1177/1074248416679733. ISSN 1940-4034. PMID 28196437. S2CID 4074303.
5. ^ "Anatomy and Function of the Coronary Arteries". www.hopkinsmedicine.org. Retrieved 2020-11-24.
6. ^ a b c d e f g h i j Palaniswamy, Chandrasekar; Aronow, Wilbert S. (September 2011). "Treatment of stable angina pectoris". American Journal of Therapeutics. 18 (5): e138–152. doi:10.1097/MJT.0b013e3181f2ab9d. ISSN 1536-3686. PMID 20861717.
7. ^ a b c d e Shao, Chunli; Wang, Jingjia; Tian, Jian; Tang, Yi-da (2020). "Coronary Artery Disease: From Mechanism to Clinical Practice". Advances in Experimental Medicine and Biology. 1177: 1–36. doi:10.1007/978-981-15-2517-9_1. ISBN 978-981-15-2516-2. ISSN 0065-2598. PMID 32246442.
8. ^ a b c d Kones, Richard (2010-08-09). "Recent advances in the management of chronic stable angina I: approach to the patient, diagnosis, pathophysiology, risk stratification, and gender disparities". Vascular Health and Risk Management. 6: 635–656. doi:10.2147/vhrm.s7564. ISSN 1178-2048. PMC 2922325. PMID 20730020.
9. ^ a b c d Reed, Grant W.; Rossi, Jeffrey E.; Cannon, Christopher P. (14 January 2017). "Acute myocardial infarction". Lancet. 389 (10065): 197–210. doi:10.1016/S0140-6736(16)30677-8. ISSN 1474-547X. PMID 27502078. S2CID 33523662.
10. ^ a b c d Lala, Anuradha; Desai, Akshay S. (April 2014). "The role of coronary artery disease in heart failure". Heart Failure Clinics. 10 (2): 353–365. doi:10.1016/j.hfc.2013.10.002. ISSN 1551-7136. PMID 24656111.
11. ^ a b c d e f g h Mordi, Ify R.; Badar, Athar A.; Irving, R. John; Weir-McCall, Jonathan R.; Houston, J. Graeme; Lang, Chim C. (2017). "Efficacy of noninvasive cardiac imaging tests in diagnosis and management of stable coronary artery disease". Vascular Health and Risk Management. 13: 427–437. doi:10.2147/VHRM.S106838. ISSN 1178-2048. PMC 5701553. PMID 29200864.
12. ^ a b c Doenst, Torsten; Haverich, Axel; Serruys, Patrick; Bonow, Robert O.; Kappetein, Pieter; Falk, Volkmar; Velazquez, Eric; Diegeler, Anno; Sigusch, Holger (5 March 2019). "PCI and CABG for Treating Stable Coronary Artery Disease: JACC Review Topic of the Week". Journal of the American College of Cardiology. 73 (8): 964–976. doi:10.1016/j.jacc.2018.11.053. ISSN 1558-3597. PMID 30819365.
13. ^ a b c d e f g Jia, Sida; Liu, Yue; Yuan, Jinqing (2020). "Evidence in Guidelines for Treatment of Coronary Artery Disease". Advances in Experimental Medicine and Biology. 1177: 37–73. doi:10.1007/978-981-15-2517-9_2. ISBN 978-981-15-2516-2. ISSN 0065-2598. PMID 32246443.
14. ^ a b c d Braun, Michael M.; Stevens, William A.; Barstow, Craig H. (2018-03-15). "Stable Coronary Artery Disease: Treatment". American Family Physician. 97 (6): 376–384. ISSN 1532-0650. PMID 29671538.
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16. ^ Foreman, Robert D.; Garrett, Kennon M.; Blair, Robert W. (April 2015). "Mechanisms of cardiac pain". Comprehensive Physiology. 5 (2): 929–960. doi:10.1002/cphy.c140032. ISSN 2040-4603. PMID 25880519.
17. ^ a b ["Ischemia." Ischemic Heart Disease. Ischemic Heart Disease, n.d. Web. 6 Nov. 2010.]
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19. ^ a b Picard, Fabien; Sayah, Neila; Spagnoli, Vincent; Adjedj, Julien; Varenne, Olivier (January 2019). "Vasospastic angina: A literature review of current evidence". Archives of Cardiovascular Diseases. 112 (1): 44–55. doi:10.1016/j.acvd.2018.08.002. ISSN 1875-2128. PMID 30197243.
20. ^ a b c d e f g h i j k [Gerstenblith, Gary, and Simeon. Margolis. "Diagnosis of Coronary Heart Disease." Hopkins Heart (Jan. 2008): 18-25. Consumer Health Complete. Web. 17 Nov. 2010.]
21. ^ Horan, L. G.; Flowers, N. C.; Johnson, J. C. (March 1971). "Significance of the diagnostic Q wave of myocardial infarction". Circulation. 43 (3): 428–436. doi:10.1161/01.cir.43.3.428. ISSN 0009-7322. PMID 5544988. S2CID 1313759.
22. ^ Surawicz, Borys; Childers, Rory; Deal, Barbara J.; Gettes, Leonard S.; Bailey, James J.; Gorgels, Anton; Hancock, E. William; Josephson, Mark; Kligfield, Paul; Kors, Jan A.; Macfarlane, Peter (2009-03-17). "AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society. Endorsed by the International Society for Computerized Electrocardiology". Journal of the American College of Cardiology. 53 (11): 976–981. doi:10.1016/j.jacc.2008.12.013. ISSN 1558-3597. PMID 19281930.
23. ^ Wagner, Galen S.; Macfarlane, Peter; Wellens, Hein; Josephson, Mark; Gorgels, Anton; Mirvis, David M.; Pahlm, Olle; Surawicz, Borys; Kligfield, Paul; Childers, Rory; Gettes, Leonard S. (2009-03-17). "AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part VI: acute ischemia/infarction: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society. Endorsed by the International Society for Computerized Electrocardiology". Journal of the American College of Cardiology. 53 (11): 1003–1011. doi:10.1016/j.jacc.2008.12.016. ISSN 1558-3597. PMID 19281933.
24. ^ a b Banerjee, A.; Newman, D. R.; Van den Bruel, A.; Heneghan, C. (May 2012). "Diagnostic accuracy of exercise stress testing for coronary artery disease: a systematic review and meta-analysis of prospective studies". International Journal of Clinical Practice. 66 (5): 477–492. doi:10.1111/j.1742-1241.2012.02900.x. ISSN 1742-1241. PMID 22512607. S2CID 41178135.
25. ^ a b c d Gurunathan, Sothinathan; Senior, Roxy (18 October 2017). "Stress Echocardiography in Stable Coronary Artery Disease". Current Cardiology Reports. 19 (12): 121. doi:10.1007/s11886-017-0935-x. ISSN 1534-3170. PMID 29046974. S2CID 45946377.
26. ^ a b c "Coronary Angiography | NHLBI, NIH". www.nhlbi.nih.gov. Retrieved 2020-11-25.
27. ^ Pyxaras, Stylianos A.; Wijns, William; Reiber, Johan H. C.; Bax, Jeroen J. (June 2018). "Invasive assessment of coronary artery disease". Journal of Nuclear Cardiology. 25 (3): 860–871. doi:10.1007/s12350-017-1050-5. ISSN 1532-6551. PMID 28849416. S2CID 213359.
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29. ^ a b c d e f [Gerstenblith, Gary, and Simeon Margolis. "Lifestyle Measures to Prevent and Treat Coronary Artery Disease." Hopkins Heart (Jan. 2008): 25-36. Consumer Health Complete. Web. 29 Nov. 2010.]
30. ^ a b c d e Parsons, Christine; Agasthi, Pradyumna; Mookadam, Farouk; Arsanjani, Reza (November 2018). "Reversal of coronary atherosclerosis: Role of life style and medical management". Trends in Cardiovascular Medicine. 28 (8): 524–531. doi:10.1016/j.tcm.2018.05.002. ISSN 1873-2615. PMID 29807666.
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33. ^ Boutcher, Y. N.; Boutcher, S. H. (March 2017). "Exercise intensity and hypertension: what's new?". Journal of Human Hypertension. 31 (3): 157–164. doi:10.1038/jhh.2016.62. ISSN 1476-5527. PMID 27604656. S2CID 3750952.
34. ^ Gomes-Neto, Mansueto; Durães, André R.; Reis, Helena F. Correia Dos; Neves, Victor R.; Martinez, Bruno P.; Carvalho, Vitor O. (November 2017). "High-intensity interval training versus moderate-intensity continuous training on exercise capacity and quality of life in patients with coronary artery disease: A systematic review and meta-analysis". European Journal of Preventive Cardiology. 24 (16): 1696–1707. doi:10.1177/2047487317728370. ISSN 2047-4881. PMID 28825321. S2CID 5478282.
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## External links[edit]
* Silent ischemia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
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*[AUT]: Austria
*[AUS]: Australia
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*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Coronary ischemia
|
c0852149
| 25,873 |
wikipedia
|
https://en.wikipedia.org/wiki/Coronary_ischemia
| 2021-01-18T18:34:23 |
{"umls": ["C0852149"], "wikidata": ["Q5172187"]}
|
## Description
The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998).
Clinical Features
DiMario (2001) attempted to document prospectively the natural history of severe BHS among 95 children with both cyanotic and pallid BHS who were referred for neurologic consultation. Median onset age was between 6 and 12 months of age, with 15% presenting younger than 6 months. The median frequency of spells was weekly, with 30% experiencing 1 or more spells per day. Hypoxic convulsions were associated with BHS in about 15%. A positive family history of BHS was identified in 34% of all families, with an equal frequency distributed between paternal and maternal sides.
Inheritance
DiMario and Sarfarazi (1997) studied family pedigrees of 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) with severe BHS. They found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband sibs had current or prior severe BHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected sibs and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior severe BHS. The data suggested that the most likely underlying genetic inheritance pattern in severe BHS is an autosomal dominant trait with reduced penetrance.
Clinical Management
Mocan et al. (1999) studied 91 children with BHS to evaluate a possible connection between iron deficiency anemia and BHS. Sixty-three patients were found to have iron deficiency anemia and were treated with iron for 3 months. Other patients were not given any treatment. After 3 months, Mocan et al. (1999) observed a significant difference for correction of cyanotic spells between children who had been treated with iron and those who had not. They concluded that treating iron deficiency anemia is effective in reducing the frequency of BHS.
INHERITANCE \- Autosomal dominant RESPIRATORY \- Breathing stopped in expiration after a deep inspiration during crying or emotional upset SKIN, NAILS, & HAIR Skin \- Cyanosis during episodes \- Pallor during episodes NEUROLOGIC Central Nervous System \- Loss of consciousness \- Loss of postural tone \- Hypoxic convulsions Behavioral Psychiatric Manifestations \- Involuntary and nonvolitional phenomenon HEMATOLOGY \- Associated with iron deficiency anemia MISCELLANEOUS \- Onset 6 to 12 months \- Variable frequency (daily to monthly) \- Mean age at termination 3 to 4 years \- Distinctive and stereotyped sequence of events \- Provoked by crying or emotional upset \- Involuntary and nonvolitional phenomenon ▲ 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
|
BREATH-HOLDING SPELLS
|
c0476287
| 25,874 |
omim
|
https://www.omim.org/entry/607578
| 2019-09-22T16:09:01 |
{"omim": ["607578"], "icd-10": ["R06.89"], "synonyms": ["Alternative titles", "BHS"]}
|
A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.
## Epidemiology
Congenital primary aphakia (CPAK) prevalance is unknown.
## Clinical description
CPAK is a congenital eye defect presenting at birth with no lens formation, resulting from a failure of lens induction from the surface ectoderm and aborted lens development. CPAK is often associated with other ocular anomalies, including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, glaucoma.
## Etiology
CPAK is caused by variants in the FOXE3 gene. Most cases are autosomal recessive. It is important to note that both dominant and recessive variants in FOXE3 are associated with a variable mixed phenotype of developmental eye disorders including anterior segment dysgenesis, microphthalmia, Peters anomaly, sclerocornea, early-onset cataract, glaucoma and ocular coloboma.
## Diagnostic methods
Molecular diagnosis can be made through genetic testing, for example whole exome/genome sequencing and can be validated by bi-directional Sanger sequencing. Clinical diagnosis can be made based on clinical examination and confirmed with ultrasound. Anterior segment ultrasound biomicroscopy may aid detection of co-existent anterior segment dysgenesis. Due to the association of CPAK and the rubella virus, a TORCH complex evalutation is also recommended.
## Antenatal diagnosis
Transabdominal ultrasound at 23 weeks gestation has detected CPAK.
## Genetic counseling
Genetic testing for FOXE3 variants will provide a molecular diagnosis. This yields information regarding carrier status and provide choices that would not otherwise be available to facilitate decision making for the patient and their family. Genetic testing is essential for defining inheritance patterns, carrier status and enabling effective genetic counselling with consequent implications for prenatal or pre-implantation genetic diagnosis.
## Management and treatment
CPAK should be managed by specialists with expertise in the condition. Supportive measures for those with sight impairment include involvement of social services. Regular follow-up will be required to monitor progression of associated anterior segment dysgenesis and glaucoma with medical and surgical interventions where needed. Intraocular surgery is not advised unless steps are taken to avoid inflammatory membrane formation and subsequent retinal detachment. Refractive refraction to reduce/prevent amblyopia. Genetic counselling should be offered to the family.
## Prognosis
Early diagnosis will enable prompt supportive treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital primary aphakia
|
c1853230
| 25,875 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83461
| 2021-01-23T17:01:31 |
{"gard": ["9952"], "mesh": ["C537786"], "omim": ["610256"], "umls": ["C1853230"], "icd-10": ["Q12.3"]}
|
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
## Epidemiology
Pelviscapular dysplasia was initially described in a North African brother and sister. Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported.
## Clinical description
The facial dysmorphism is characterized by frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia (Kosenow syndrome, scapuloiliac dysostosis; see this term), and the two entities may represent different manifestations of the same disease. However, Kosenow syndrome is not associated with craniocervical abnormalities and seems to be inherited as an autosomal dominant trait.
## Etiology
Mutations in the TBX15 gene have been identified as potentially causative.
## Diagnostic methods
Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly.
## Genetic counseling
An autosomal recessive mode of transmission has been suggested.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pelviscapular dysplasia
|
c1850040
| 25,876 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93333
| 2021-01-23T18:45:19 |
{"gard": ["1555"], "mesh": ["C535550"], "omim": ["260660"], "umls": ["C1850040"], "icd-10": ["Q87.5"], "synonyms": ["Cousin syndrome", "Familial pelvis-scapular dysplasia"]}
|
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
|
c1842237
| 25,877 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100045
| 2021-01-23T17:26:14 |
{"gard": ["12439"], "mesh": ["C564257"], "omim": ["608323"], "umls": ["C1842237"], "icd-10": ["G60.0"], "synonyms": ["CMTDIC"]}
|
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
## Epidemiology
L1 syndrome primarily affects males. HSAS is the most common genetic form of congenital hydrocephalus, with a prevalence of approximately 1/30,000. The prevalence and incidence of the other disorders in the spectrum are not known.
## Clinical description
Presentation is commonly in the antenatal or neonatal period but, depending on the severity of condition, may present later in life with developmental delay and other neurological features such as spasticity. Affected males have varying degrees of hydrocephalus (frequently present in the prenatal period) ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Patients develop generalized hypotonia and spasticity of the legs at an early age and the condition appears to progress over time, leading to leg muscle atrophy causing a shuffling gait. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Some patients also experience seizures. A small number of patients (< 20) have been reported to have a combination of L1 syndrome and Hirschsprung disease. Female carriers may have minor features such as adducted thumbs or mild intellectual deficit but they rarely have the severe manifestations of the syndrome.
## Etiology
L1 syndrome is caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. More than 240 different mutations have been reported to date, possibly explaining the wide clinical spectrum. About 7% of mutations have been reported to occur de novo.
## Diagnostic methods
Diagnosis in male patients is made on the basis of the characteristic clinical and neuropathologic findings and a family history consistent with X-linked transmission. Bilateral absence of the pyramids (corticospinal tract) detected by magnetic resonance imaging (MRI) or autopsy is practically a pathognomonic feature of the syndrome. The diagnosis can be confirmed by molecular genetic testing of the L1CAM gene.
## Differential diagnosis
The differential diagnosis is broad. Other hydrocephalus and spastic paraplegia disorders should be ruled out. A pediatric/neurologic/clinical genetics work-up enables diagnosis of the possible individual diseases.
## Antenatal diagnosis
Prenatal testing can be performed in female carriers if an L1CAM disease-causing mutation has been identified in a family member. Genetic counseling is important; fetal gender termination can be part of the prenatal workup. Fetal cells, obtained by chorionic villus sampling or by amniocentesis, can be studied for the known disease-causing mutation. Girls may be affected, and ultrasound at 20 weeks is recommended in female fetuses. Normal fetal ultrasound at 20 weeks does not however rule out the disorder: absence of hydrocephalus at this stage does not guarantee that a male fetus is not affected.
## Genetic counseling
L1 syndrome is inherited in an X-linked manner. Genetic counseling should be provided to affected families. For carrier females, there is a 50% chance that male offspring will be affected; for female offspring there is 50% risk of inheriting the mutation. Carrier females may be asymptomatic or express a milder phenotype.
## Management and treatment
Treatment requires a multidisciplinary team including specialists in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics. Shunting of cerebrospinal fluid (CSF) can be carried out to lower intracranial pressure. Corrective surgery for adducted thumbs is not indicated. Monitoring should include developmental progress and neurological symptoms.
## Prognosis
Hydrocephalus may result in stillbirth or death in early infancy. Prognosis is dependent on the severity of the manifestations.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
L1 syndrome
|
c0795953
| 25,878 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275543
| 2021-01-23T18:30:58 |
{"gard": ["12524"], "mesh": ["C536029"], "omim": ["303350", "304100", "307000"], "icd-10": ["Q04.8"], "synonyms": ["CRASH syndrome", "Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome", "L1CAM syndrome"]}
|
Hypertrichosis simplex of the scalp
SpecialtyDermatology
Hypertrichosis simplex of the scalp is a cutaneous condition caused by defects in the corneodesmosin protein.[1]
## See also[edit]
* Hairy elbow syndrome
* List of cutaneous conditions
* List of conditions caused by problems with junctional proteins
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypertrichosis simplex of the scalp
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None
| 25,879 |
wikipedia
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https://en.wikipedia.org/wiki/Hypertrichosis_simplex_of_the_scalp
| 2021-01-18T18:55:39 |
{"wikidata": ["Q5958771"]}
|
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
SpecialtyMedical genetics
Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598[2]
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.[citation needed]
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Classification
* 3 Management
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## Cause[edit]
Absence of keratin-5,14 since birth.[citation needed]
## Diagnosis[edit]
### Classification[edit]
Epidermolysis bullosa simplex may be divided into multiple types:
Type Locus & Gene OMIM
Epidermolysis bullosa simplex with migratory circinate erythema 12q13 (KRT5) 609352
Epidermolysis bullosa simplex with mottled pigmentation.
Associated with a recurrent mutation in KRT14.[3]:557[4][5]
12q13 (KRT5) 131960
Epidermolysis bullosa simplex, autosomal recessive 17q12-q21 (KRT14) 601001
Generalized epidermolysis bullosa simplex
Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[1]:598[3]:556
17q12-q21 (KRT5), 12q13 (KRT14) 131900
Localized epidermolysis bullosa simplex
Also known as "Weber–Cockayne syndrome",[5]:460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[1]:598[3]:557
17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) 131800
Epidermolysis bullosa herpetiformis
Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[1]:598[3]:557
17q12-q21 (KRT5), 12q13 (KRT14) 131760
Epidermolysis bullosa simplex with muscular dystrophy
A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[1]:598[3]:557[5]
8q24 (PLEC1) 226670
Epidermolysis bullosa simplex with pyloric atresia 8q24 (PLEC1) 612138
Epidermolysis bullosa simplex of Ogna
Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[1]:598[3]:557[5]
8q24 (PLEC1) 131950
## Management[edit]
* No cure for EB
* Treat symptoms
* Protect skin, stop blister formation, promote healing
* Prevent complications
* Necessary treatment: use oral and topical steroid for healing and prevent complication
* Maintain cool environment, avoid overheating and decreases friction
## See also[edit]
* Epidermolysis bullosa
* List of cutaneous conditions caused by mutations in keratins
## References[edit]
1. ^ a b c d e f Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
3. ^ a b c d e f James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
4. ^ Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006. [1]
5. ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## Further reading[edit]
Wikimedia Commons has media related to Epidermolysis bullosa simplex.
* GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex
## External links[edit]
Classification
D
* ICD-10: Q81.0
* ICD-9-CM: 757.39
* OMIM: 131900 131760 131800 131960
* MeSH: D016110
* DiseasesDB: 4334
External resources
* eMedicine: derm/124
* Orphanet: 304
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
Congenital malformations and deformations of integument / skin disease
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
* Ichthyosis vulgaris
AR
* Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis
* Lamellar ichthyosis
* Harlequin-type ichthyosis
* Netherton syndrome
* Zunich–Kaye syndrome
* Sjögren–Larsson syndrome
XR
* X-linked ichthyosis
Ungrouped
* Ichthyosis bullosa of Siemens
* Ichthyosis follicularis
* Ichthyosis prematurity syndrome
* Ichthyosis–sclerosing cholangitis syndrome
* Nonbullous congenital ichthyosiform erythroderma
* Ichthyosis linearis circumflexa
* Ichthyosis hystrix
EB
and related
* EBS
* EBS-K
* EBS-WC
* EBS-DM
* EBS-OG
* EBS-MD
* EBS-MP
* JEB
* JEB-H
* Mitis
* Generalized atrophic
* JEB-PA
* DEB
* DDEB
* RDEB
* related: Costello syndrome
* Kindler syndrome
* Laryngoonychocutaneous syndrome
* Skin fragility syndrome
Ectodermal dysplasia
* Naegeli syndrome/Dermatopathia pigmentosa reticularis
* Hay–Wells syndrome
* Hypohidrotic ectodermal dysplasia
* Focal dermal hypoplasia
* Ellis–van Creveld syndrome
* Rapp–Hodgkin syndrome/Hay–Wells syndrome
Elastic/Connective
* Ehlers–Danlos syndromes
* Cutis laxa (Gerodermia osteodysplastica)
* Popliteal pterygium syndrome
* Pseudoxanthoma elasticum
* Van der Woude syndrome
Hyperkeratosis/
keratinopathy
PPK
* diffuse: Diffuse epidermolytic palmoplantar keratoderma
* Diffuse nonepidermolytic palmoplantar keratoderma
* Palmoplantar keratoderma of Sybert
* Meleda disease
* syndromic
* connexin
* Bart–Pumphrey syndrome
* Clouston's hidrotic ectodermal dysplasia
* Vohwinkel syndrome
* Corneodermatoosseous syndrome
* plakoglobin
* Naxos syndrome
* Scleroatrophic syndrome of Huriez
* Olmsted syndrome
* Cathepsin C
* Papillon–Lefèvre syndrome
* Haim–Munk syndrome
* Camisa disease
* focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
* Focal palmoplantar and gingival keratosis
* Howel–Evans syndrome
* Pachyonychia congenita
* Pachyonychia congenita type I
* Pachyonychia congenita type II
* Striate palmoplantar keratoderma
* Tyrosinemia type II
* punctate: Acrokeratoelastoidosis of Costa
* Focal acral hyperkeratosis
* Keratosis punctata palmaris et plantaris
* Keratosis punctata of the palmar creases
* Schöpf–Schulz–Passarge syndrome
* Porokeratosis plantaris discreta
* Spiny keratoderma
* ungrouped: Palmoplantar keratoderma and spastic paraplegia
* desmoplakin
* Carvajal syndrome
* connexin
* Erythrokeratodermia variabilis
* HID/KID
Other
* Meleda disease
* Keratosis pilaris
* ATP2A2
* Darier's disease
* Dyskeratosis congenita
* Lelis syndrome
* Dyskeratosis congenita
* Keratolytic winter erythema
* Keratosis follicularis spinulosa decalvans
* Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
* Keratosis pilaris atrophicans faciei
* Keratosis pilaris
Other
* cadherin
* EEM syndrome
* immune system
* Hereditary lymphedema
* Mastocytosis/Urticaria pigmentosa
* Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
Developmental
anomalies
Midline
* Dermoid cyst
* Encephalocele
* Nasal glioma
* PHACE association
* Sinus pericranii
Nevus
* Capillary hemangioma
* Port-wine stain
* Nevus flammeus nuchae
Other/ungrouped
* Aplasia cutis congenita
* Amniotic band syndrome
* Branchial cyst
* Cavernous venous malformation
* Accessory nail of the fifth toe
* Bronchogenic cyst
* Congenital cartilaginous rest of the neck
* Congenital hypertrophy of the lateral fold of the hallux
* Congenital lip pit
* Congenital malformations of the dermatoglyphs
* Congenital preauricular fistula
* Congenital smooth muscle hamartoma
* Cystic lymphatic malformation
* Median raphe cyst
* Melanotic neuroectodermal tumor of infancy
* Mongolian spot
* Nasolacrimal duct cyst
* Omphalomesenteric duct cyst
* Poland anomaly
* Rapidly involuting congenital hemangioma
* Rosenthal–Kloepfer syndrome
* Skin dimple
* Superficial lymphatic malformation
* Thyroglossal duct cyst
* Verrucous vascular malformation
* Birthmark
* 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
* Larsen syndrome
* 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
* Cavernous venous malformation
Membrane
* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3
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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Epidermolysis bullosa simplex
|
c0079298
| 25,880 |
wikipedia
|
https://en.wikipedia.org/wiki/Epidermolysis_bullosa_simplex
| 2021-01-18T18:51:15 |
{"gard": ["10752"], "mesh": ["D016110"], "umls": ["C0079298"], "icd-9": ["757.39"], "orphanet": ["304"], "wikidata": ["Q3124960"]}
|
Human disease
Postorgasmic illness syndrome
Other namesPOIS
SpecialtyAndrology, Allergy, Endocrinology
Postorgasmic illness syndrome is a syndrome in which people have chronic physical and cognitive symptoms immediately following ejaculation in the absence of a local genital reaction.[1] The symptoms last for up to a week.[1] The cause and prevalence are unknown;[2] it is considered a rare disease.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Synonyms and related conditions
* 2 Mechanism
* 2.1 Allergy hypothesis
* 2.2 Hormone hypothesis
* 2.3 Withdrawal hypothesis
* 2.4 Other possibilities
* 3 Diagnosis
* 4 Management
* 5 Epidemiology
* 5.1 Women
* 6 References
* 7 External links
## Signs and symptoms[edit]
The distinguishing characteristics of POIS are:
1. the rapid onset of symptoms after ejaculation;
2. the absence of any local genital reaction; and
3. the presence of an overwhelming systemic reaction.[1]
POIS symptoms, which are called a "POIS attack",[1] can include some combination of the following: cognitive dysfunction, aphasia, severe muscle pain throughout the body, severe fatigue, weakness, and flu-like or allergy-like symptoms,[4] such as sneezing, itchy eyes, and nasal irritation.[5][2][6] Additional symptoms include headache, dizziness, lightheadedness, sensory and motor problems, intense discomfort, irritability, anxiety, gastrointestinal disturbances, craving for relief, susceptibility to nervous system stresses (e.g. common cold), depressed mood, and difficulty communicating, remembering words, reading and retaining information, concentrating, and socializing.[5][7] Affected individuals may also experience intense warmth or cold.[4] An online anonymous self-report study found that 80% of respondents always experienced the symptom cluster involving fatigue, irritation, and concentration difficulties.[8]
The symptoms usually begin within 30 minutes of ejaculation,[5] and can last for several days, sometimes up to a week.[4]
In some men, the onset of POIS is in puberty, while in others, the onset is later in life.[9] POIS that is manifest from the first ejaculations in adolescence is called primary type; POIS that starts later in life is called secondary type.[1]
Many POIS sufferers report lifelong premature ejaculation, with intravaginal ejaculation latency time (IELT) of less than one minute.[1][6]
> The 7 clusters of symptoms of criterion 1:[9]
>
> 1. General : Extreme fatigue, exhaustion, palpitations, problems finding words, incoherent speech, dysarthria, concentration difficulties, quickly irritated, cannot stand noise, photophobia, depressed mood
>
> 2. Flu-like : Feverish, extreme warmth, perspiration, shivery, ill with flu, feeling sick, feeling cold
>
> 3. Head : Headache, foggy feeling in the head, heavy feeling in the head
>
> 4. Eyes : Burning, red injected eyes, blurred vision, watery, irritating, itching eyes, painful eyes
>
> 5. Nose : Congestion nose, watery/runny nose, sneezing
>
> 6. Throat : Dirty taste in mouth, dry mouth, sore throat, tickling cough, hoarse voice
>
> 7. Muscle : Muscle tension behind neck, muscle weakness, pain in muscles, heavy legs, stiff muscles
>
### Synonyms and related conditions[edit]
POIS has been called by a number of other names, including "postejaculatory syndrome",[4] "postorgasm illness syndrome",[10] "post ejaculation sickness",[11] and "post orgasmic sick syndrome".[3]
Dhat syndrome is a condition, first described in 1960 in India, with symptoms similar to POIS.[10] Dhat syndrome is thought to be a culture-bound psychiatric condition and is treated with cognitive behavioral therapy along with anti-anxiety and antidepressant drugs.[12]
Post-coital tristesse (PCT) is a feeling of melancholy and anxiety after sexual intercourse that lasts anywhere from five minutes to two hours. PCT, which affects both men and women, occurs only after sexual intercourse and does not require an orgasm to occur, and in that its effects are primarily emotional rather than physiological. By contrast, POIS affects only men, consists primarily of physiological symptoms that are triggered by ejaculation and that can last, in some people, for up to a week. While PCT and POIS are distinct conditions, some doctors speculate that they could be related.[10]
An array of more subtle and lingering symptoms after orgasm, which do not constitute POIS, may contribute to habituation between mates. They may show up as restlessness, irritability, increased sexual frustration, apathy, sluggishness, neediness, dissatisfaction with a mate, or weepiness[13] over the days or weeks after intense sexual stimulation. Such phenomena may be part of human mating physiology itself.
Sexual headache is a distinct condition characterized by headaches that usually begin before or during orgasm.[14]
## Mechanism[edit]
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Postorgasmic illness syndrome" – news · newspapers · books · scholar · JSTOR (February 2019)
The cause of POIS is unknown. Some doctors hypothesize that POIS is caused by an auto-immune reaction.[15] Other doctors suspect a hormone imbalance as the cause. While other causes have been proposed as well, none of the proposed causes seem to fully explain the disease.
### Allergy hypothesis[edit]
According to one hypothesis, "POIS is caused by Type-I and Type-IV allergy to the males' own semen".[1][16][17]
POIS could also be caused by an auto-immune reaction not to semen itself, but to another substance that is released during ejaculation, such as to cytokines.[10]
The allergy hypothesis has been disputed. According to one study, "IgE-mediated semen allergy in men may not be the potential mechanism of POIS".[6]
### Hormone hypothesis[edit]
According to another hypothesis, POIS is caused by a hormone imbalance, such as low progesterone,[medical citation needed] low cortisol, low testosterone, elevated prolactin, hypothyroidism, or low DHEA.[18]
POIS could be caused by a defect in neurosteroid precursor synthesis. In this case, the same treatment may not be effective for different sufferers. Different sufferers may have different missing precursors, ultimately leading to a deficiency of the same particular neurosteroid, causing similar symptoms.[medical citation needed]
### Withdrawal hypothesis[edit]
It may be noted that the majority of POIS symptoms, including : flu-like symptoms, fatigue, muscle pains, sweating, mood disturbances, irritability, poor concentration and others are similarly caused during withdrawal from different drug classes[19] and natural reinforcers.[20] It's actually unknown if there could be a relationship between hypersexuality, pornography addiction, compulsive sexual behavior and POIS. Some evidence claims that POIS patients have a history of excessive masturbation in the early stage and it implicitly suggests that POIS could be a consequence of sex addiction.[21]
### Other possibilities[edit]
POIS could also be caused by hyperglycemia[18] or by chemical imbalances in the brain.[22]
Sexual activity for the first time may set the stage for an associated asthma attack or may aggravate pre-existing asthma. Intense emotional stimuli during sexual intercourse can lead to autonomic imbalance with parasympathetic over reactivity, thereby causing release of mast cell mediators that can provoke postcoital asthma and / or rhinitis in these patients.[23]
It is also possible that, in different individuals, the causes of POIS are different. POIS could represent "a spectrum of syndromes of differing" causes.[10]
None of the currently proposed causes for POIS fully explain the connection between POIS and lifelong premature ejaculation.[24]
## Diagnosis[edit]
There is no generally agreed upon diagnostic criteria for POIS. One group has developed five preliminary criteria for diagnosing POIS. These are:
> 1. one or more of the following symptoms: sensation of a flu-like state, extreme fatigue or exhaustion, weakness of musculature, experiences of feverishness or perspiration, mood disturbances and / or irritability, memory difficulties, concentration problems, incoherent speech, congestion of nose or watery nose, itching eyes;
>
> 2. all symptoms occur immediately (e.g., seconds), soon (e.g., minutes), or within a few hours after ejaculation that is initiated by coitus, and / or masturbation, and / or spontaneously (e.g., during sleep);
>
> 3. symptoms occur always or nearly always, e.g., in more than 90% of ejaculation events;
>
> 4. most of these symptoms last for about 2–7 days; and
>
> 5. disappear spontaneously.[1]
>
POIS is prone to being erroneously ascribed to psychological factors such as hypochondriasis or somatic symptom disorder.[4]
An online survey study suggested that only a small number of self-reported POIS fulfill entirely the five criteria. This study proposed to change the Criterion 3 with “In at least one ejaculatory setting (sex, masturbation, or nocturnal emission), symptoms occur after all or almost all ejaculations.”[8]
## Management[edit]
There is no standard method of treating or managing POIS. Patients need to be thoroughly examined in an attempt to find the causes of their POIS symptoms, which are often difficult to determine, and which vary across patients. Once a cause is hypothesized, an appropriate treatment can be attempted. At times, more than one treatment is attempted, until one that works is found.[citation needed]
Affected individuals typically avoid sexual activity,[4] especially ejaculation,[1] or schedule it for times when they can rest and recover for several days afterwards.[5] In case post-coital tristesse (PCT) is suspected, patients could be treated with selective serotonin reuptake inhibitors.[10][22]
In one patient, the POIS symptoms were so severe, that he decided to undergo removal of the testicles, prostate, and seminal vesicles in order to relieve them. The POIS symptoms were cured by this.[25]
Another patient, in whom POIS was suspected to be caused by cytokine release, was successfully treated with nonsteroidal anti-inflammatory drugs (NSAIDs) just prior to and for a day or two after ejaculation. The patient took diclofenac 75 mg 1 to 2 hours prior to sexual activity with orgasm, and continued twice daily for 24 to 48 hours.[10]
One POIS patient with erectile dysfunction and premature ejaculation had much lower severity of symptoms on those occasions when he was able to maintain penile erection long enough to achieve vaginal penetration and ejaculate inside his partner. The patient took tadalafil to treat his erectile dysfunction and premature ejaculation. This increased the number of occasions on which he was able to ejaculate inside his partner, and decreased the number of occasions on which he experienced POIS symptoms. This patient is thought to have Dhat syndrome rather than true POIS.[10]
Two patients, in whom POIS was suspected to be caused by auto-immune reaction to their own semen, were successfully treated by allergen immunotherapy with their own autologous semen. They were given multiple subcutaneous injections of their own semen for three years.[1] Treatment with autologous semen "might take 3 to 5 years before any clinically relevant symptom reduction would become manifest".[1]
Treatments are not always successful, especially when the cause of POIS in a particular patient has not been determined. In one patient, all of whose routine laboratory tests were normal, the following were attempted, all without success: ibuprofen, 400 mg on demand; tramadol 50 mg one hour pre-coitally; and escitalopram 10 mg daily at bedtime for 3 months.[18]
## Epidemiology[edit]
The prevalence of POIS is unknown.[2] POIS is listed as a rare disease by the American National Institutes of Health[3] and the European Orphanet.[26] It is thought to be underdiagnosed and underreported.[7] POIS seems to affect mostly men from around the world, of various ages and relationship statuses.[8]
### Women[edit]
It is possible that a similar disease exists in women, though, as of 2016, there is only one documented female patient.[1]
## References[edit]
1. ^ a b c d e f g h i j k l Waldinger MD (2016). "Post-Orgasmic Illness Syndrome". In Levine S, Risen CB, Althof SE (eds.). Handbook of Clinical Sexuality for Mental Health Professionals (3rd ed.). Routledge. p. 380. ISBN 9781317507451.
2. ^ a b c Wylie KR, ed. (2015). ABC of Sexual Health. John Wiley & Sons. p. 75. ISBN 9781118665565.
3. ^ a b c "Postorgasmic illness syndrome". Genetic and Rare Diseases Information Center (GARD). National Institutes of Health. 2015. Retrieved 30 July 2015.
4. ^ a b c d e f Waldinger, MD; Schweitzer, DH (May 2002). "Postorgasmic illness syndrome: two cases". Journal of Sex & Marital Therapy. 28 (3): 251–5. doi:10.1080/009262302760328280. PMID 11995603. S2CID 27162173.
5. ^ a b c d Balon R, Segraves RT, eds. (2005). Handbook of Sexual Dysfunction. Taylor & Francis. ISBN 9780824758264.
6. ^ a b c Jiang N, Xi G, Li H, Yin J (Mar 2015). "Postorgasmic illness syndrome (POIS) in a Chinese man: no proof for IgE-mediated allergy to semen". The Journal of Sexual Medicine. 12 (3): 840–5. doi:10.1111/jsm.12813. PMID 25630453.
7. ^ a b Nguyen HM, Bala A, Gabrielson AT, Hellstrom WJ (January 6, 2018). "Post-Orgasmic Illness Syndrome: A Review". Sexual Medicine Reviews. 6 (1): 11–15. doi:10.1016/j.sxmr.2017.08.006. PMID 29128269.
8. ^ a b c Strashny, Alex (September 2019). "First assessment of the validity of the only diagnostic criteria for postorgasmic illness syndrome (POIS)". International Journal of Impotence Research. 31 (5): 369–373. doi:10.1038/s41443-019-0154-7. ISSN 1476-5489. PMID 31171851. S2CID 174814433.
9. ^ a b Paulos, Mark R.; Avelliino, Gabriella J. (2020-01-01). "Post-orgasmic illness syndrome: history and current perspectives". Fertility and Sterility. 113 (1): 13–15. doi:10.1016/j.fertnstert.2019.11.021. ISSN 0015-0282. PMID 32033716.
10. ^ a b c d e f g h Ashby, J; Goldmeier, D (May 2010). "Postorgasm illness syndrome--a spectrum of illnesses". The Journal of Sexual Medicine. 7 (5): 1976–81. doi:10.1111/j.1743-6109.2010.01707.x. PMID 20214722.
11. ^ Goldstein A (10 Aug 2011). "Urology: Post ejaculation sickness". AllExperts. Archived from the original on 17 April 2016. Retrieved 30 July 2015.
12. ^ Lim, Russell F. (2015). Clinical Manual of Cultural Psychiatry (2d ed.). American Psychiatric Pub. p. 521. ISBN 978-1-58562-439-3.
13. ^ Burri AV, Spector TD (Jun 2011). "An epidemiological survey of post-coital psychological symptoms in a UK population sample of female twins". Twin Res Hum Genet. 14 (3): 240–8. doi:10.1375/twin.14.3.240. PMID 21623654.
14. ^ "Sexual headaches: What are they, who gets them and are they dangerous?". Global News. 28 June 2017. Retrieved 24 February 2020.
15. ^ Sáenz-Herrero, Margarita (2019). Psychopathology in Women: Incorporating Gender Perspective into Descriptive Psychopathology (2d ed.). Springer. p. 256. ISBN 978-3-030-15178-2.
16. ^ Farley SJ (March 2011). "Sexual dysfunction: Postorgasmic illness syndrome". Nature Reviews Urology. 8 (3): 121. doi:10.1038/nrurol.2011.17. PMID 21513019.
17. ^ "Dutch Doctor Identifies Post-Orgasmic Syndrome". Reuters Health. Amsterdam. Reuters. April 12, 2002. Retrieved 30 July 2015.
18. ^ a b c Attia AM, Yasien HA, Al-Ziny MH (2013). "Post-orgasmic illness syndrome: a case report". F1000Research. 2 (113): 113. doi:10.12688/f1000research.2-113.v1.
19. ^ West, Robert; Gossop, Michael (1994). "Overview: A comparison of withdrawal symptoms from different drug classes". Addiction. 89 (11): 1483–1489. doi:10.1111/j.1360-0443.1994.tb03747.x. ISSN 1360-0443. PMID 7841860.
20. ^ Olsen, Christopher M. (2011-12-01). "Natural rewards, neuroplasticity, and non-drug addictions". Neuropharmacology. Synaptic Plasticity and Addiction. 61 (7): 1109–1122. doi:10.1016/j.neuropharm.2011.03.010. ISSN 0028-3908. PMC 3139704. PMID 21459101.
21. ^ Tsai, Chengchung; Li, Minyi (October 2019). A New Exploration of the Combined Treatment of Symptoms and Social Work Psychology in Male Sexual Addiction Patients. Atlantis Press. doi:10.2991/cesses-19.2019.118. ISBN 978-94-6252-816-1.
22. ^ a b Friedman, Richard A. (January 19, 2009). "Sex and Depression: In the Brain, if Not the Mind". The New York Times. Retrieved 30 July 2015.
23. ^ Shah A (Jul 2001). "Asthma and sex" (PDF). Indian J Chest Dis Allied Sci. 43 (3): 135–7. PMID 11529431.
24. ^ Abdessater, Maher; Elias, Sandra; Mikhael, Elie; Alhammadi, Abdalla; Beley, Sebastien (2019-09-03). "Post orgasmic illness syndrome: what do we know till now?". Basic and Clinical Andrology. 29: 13. doi:10.1186/s12610-019-0093-7. ISSN 2051-4190. PMC 6721082. PMID 31508233.
25. ^ "Weight For It & Desperate Measures". Strange Sex. Season 2. May 22, 2011. TLC.
26. ^ "Postorgasmic illness syndrome". Orphanet. 2015. Retrieved 7 August 2015.
## External links[edit]
Classification
D
External resources
* Orphanet: 279947
Look up POIS in Wiktionary, the free dictionary.
* v
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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
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*[nM]: nanomolars
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*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Postorgasmic illness syndrome
|
c0032343
| 25,881 |
wikipedia
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https://en.wikipedia.org/wiki/Postorgasmic_illness_syndrome
| 2021-01-18T19:08:17 |
{"gard": ["10809"], "mesh": ["D011041"], "orphanet": ["279947"], "synonyms": ["POIS"], "wikidata": ["Q2626291"]}
|
"Pseudologia fantastica" redirects here. For the Foster the People song, see Pseudologia Fantastica (song).
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: "Pathological lying" – news · newspapers · books · scholar · JSTOR (June 2017) (Learn how and when to remove this template message)
Pathological lying
Other namesPseudologia fantastica, mythomania
SpecialtyPsychiatry
Pathological lying or mythomania is a mental disorder in which the person habitually or compulsively lies.[1][2][3][4][5]
It was first described in the medical literature in 1895 by Anton Delbrück [de].[3] Although it is a controversial topic,[3] pathological lying has been defined as "falsification entirely disproportionate to any discernible end in view, may be extensive and very complicated, and may manifest over a period of years or even a lifetime".[2]
## Contents
* 1 Characteristics
* 2 Diagnosis
* 3 Psychopathy
* 4 Pathological liars
* 5 Epidemiology
* 6 See also
* 7 Further reading
* 8 External links
## Characteristics[edit]
Defining characteristics of pathological lying include
* An internal motive for the behavior cannot be discerned clinically: e.g., long-lasting extortion or habitual spousal battery might cause a person to lie repeatedly, without the lying being a pathological symptom.[3]
* The stories told tend toward presenting the liar favorably. The liar "decorates their own person"[6] by telling stories that present them as the hero or the victim. For example, the person might be presented as being fantastically brave, as knowing or being related to many famous people, or as having great power, position, or wealth.
Some psychiatrists distinguish compulsive from pathological lying, while others consider them equivalent; yet others deny the existence of compulsive lying altogether; this remains an area of considerable controversy.[7]
## Diagnosis[edit]
Pathological lying is listed in the Diagnostic and Statistical Manual of Mental Disorders, although only as a symptom of other disorders such as psychopathy and antisocial, narcissistic, and histrionic personality disorders, not as a stand-alone diagnosis.[8] The ICD-10 disorder Haltlose personality disorder is strongly tied to pathological lying.[9]
It has been shown through lie detector tests that PF (pseudologia fantastica) patients exhibit arousal, stress, and guilt from their deception. This is different from psychopaths, who experience none of those reactions. People affected by antisocial disorder lie for external personal profit in the forms of money, sex, and power. PF is strictly internal. The difference between borderline personality disorder (BPD) and PF is that BPD patients desperately try to cope with their feeling of abandonment, mistreatment, or rejection by making empty threats of suicide or false accusations of abandonment. Pathological liars do not feel rejected; they have high levels of self-assurance that help them lie successfully. Unlike those with histrionic personality, pathological liars are more verbally dramatic than sexually flamboyant. Narcissists think they have achieved perfection and are unempathetic to others. PF patients do not show these anti-social behaviors; they often lie because they think their life is not interesting enough.[8]
The only diagnosis in the current system where purposeless, internally motivated deception is listed is axis I factitious disorder. This diagnosis deals with people who lie about having physical or psychological disorders (research must be done to confirm the individual does not in fact have a disorder. This may become troublesome due to the fact that medical records are sealed to the public). People with PF tend to lie about their identities and past history. Since the symptoms do not match up, the individual may go undiagnosed.[citation needed] Though they could well be diagnosed under the catch-all rubric of unspecified personality disorder (UPD) (ICD-10 code F69) or perhaps even under ICD-10 code F68.8 "Other specified disorder of adult personality and behaviour" as this defines itself as "This category should be used for coding any specified disorder of adult personality and behaviour that cannot be classified under any one of the preceding headings". Here the specified disorder is the lying for psychological reasons (not material ones e.g. sexual self-gratification etc.) and the behavior would also need to meet the necessary conditions to be viewed as a psychiatric illness.
## Psychopathy[edit]
Pathological lying is in Factor 1 of the Psychopathy Checklist (PCL).[10]
## Pathological liars[edit]
Lying is the act of both knowingly and intentionally or willfully making a false statement.[11] Normal lies are defensive and are told to avoid the consequences of truth telling. They are often white lies that spare another's feelings, reflect a pro-social attitude, and make civilized human contact possible.[8] Pathological lying can be described as a habituation of lying. It is when an individual consistently lies for no personal gain.
There are many consequences of being a pathological liar. Due to lack of trust, most pathological liars' relationships and friendships fail. If this continues to progress, lying could become so severe as to cause legal problems, including, but not limited to, fraud.[12]
## Epidemiology[edit]
The average age of onset is 21 years when the level of intelligence is average or above average. Sufferers have also shown above average verbal skills as opposed to performance abilities.[citation needed] Thirty percent of subjects had a chaotic home environment, where a parent or other family member had a mental disturbance. Its occurrence was found by the study to be equal in women and men.[6][8] Forty percent of cases reported central nervous system abnormality such as epilepsy, abnormal EEG findings, ADHD, head trauma, or CNS infection.[8]
## See also[edit]
* Compulsive behavior
* Confabulation
* Child lying
* Ganser syndrome
* Gaslighting
* Munchausen syndrome
* Psychological projection
## Further reading[edit]
1. ^ Hart, Christian L.; Curtis, Drew A. (7 September 2020). "What Is Pathological Lying". Psychology Today. Psychology Today. Retrieved 11 November 2020.
2. ^ a b Griffith, Ezra E. H.; Baranoski, Madelon; Dike, Charles C. (1 September 2005). "Pathological Lying Revisited". Journal of the American Academy of Psychiatry and the Law. American Academy of Psychiatry and the Law. 33 (3): 342–349. ISSN 1093-6793. PMID 16186198. Retrieved 7 April 2019.
3. ^ a b c d Dike, Charles C. (June 1, 2008). "Pathological Lying: Symptom or Disease?". 25 (7). Cite journal requires `|journal=` (help)
4. ^ "Pathological Liar: How to Cope with Someone's Compulsive Lies". Healthline. August 27, 2018.
5. ^ Curtis, Drew A.; Hart, Christian L. (2020-06-22). "Pathological Lying: Theoretical and Empirical Support for a Diagnostic Entity". Psychiatric Research and Clinical Practice. 2 (2): 62–69. doi:10.1176/appi.prcp.20190046. ISSN 2575-5609.
6. ^ a b Healy, Mary Tenney; Healy, William (2004) [1915]. Pathological lying, accusation and swindling: a study in forensic psychology. Whitefish, MT: Kessinger. ISBN 9781419140303.
7. ^ "The Truth About Compulsive and Pathological Liars". Psychologia. Retrieved 28 January 2017.
8. ^ a b c d e King BH, Ford CV (January 1988). "Pseudologia fantastica". Acta Psychiatrica Scandinavica. 77 (1): 1–6. doi:10.1111/j.1600-0447.1988.tb05068.x. PMID 3279719. S2CID 221390958.
9. ^ Kielholz, Arthur, Internationale Zeitschrift für Psychoanalyse XIX 1933 Heft 4, "Weh' dem, der lügt! Beitrag zum Problem der Pseudologia phantastica"
10. ^ Skeem, J. L.; Polaschek, D. L. L.; Patrick, C. J.; Lilienfeld, S. O. (2011). "Psychopathic Personality: Bridging the Gap Between Scientific Evidence and Public Policy". Psychological Science in the Public Interest. 12 (3): 95–162. doi:10.1177/1529100611426706. PMID 26167886. S2CID 8521465.
11. ^ Lying. (n.d.). Dictionary.com Unabridged. Retrieved September 26, 2011
12. ^ Dike, C. (2008). Pathological lying: symptom or disease? Lying with no apparent motive or benefit. Psychiatric Times, 25(7), 67–73. Retrieved from EBSCOhost.
* Hart CL; Curtis DC (2020). "What Is Pathological Lying?". Psychology Today
* Curtis, DC, Hart CL (2020). "Pathological Lying: Theoretical and Empirical Support for a Diagnostic Entity". Psychiatric Research & Clinical Practice. https://doi.org/10.1176/appi.prcp.20190046
* Hardie TJ, Reed A (July 1998). "Pseudologia fantastica, factitious disorder and impostership: a deception syndrome". Medicine, Science, and the Law. 38 (3): 198–201. doi:10.1177/002580249803800303. PMID 9717367. S2CID 9402077.
* Newmark N; Adityanjee; Kay J (1999). "Pseudologia fantastica and factitious disorder: review of the literature and a case report". Comprehensive Psychiatry. 40 (2): 89–95. doi:10.1016/S0010-440X(99)90111-6. PMID 10080254.
## External links[edit]
Classification
D
Look up pseudologia phantastica in Wiktionary, the free dictionary.
* PubMed – pseudologia fantastica – related articles
* v
* t
* e
Reinforcement disorders: Addiction and Dependence
Addiction
Drug
* Alcohol
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Behavioral
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* Sex-related
* Intercourse
* Pornography
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* Internet addiction disorder
* Internet sex addiction
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* Digital media addictions
Cellular
mechanisms
* Transcriptional
* ΔFosB
* c-Fos
* Cdk5
* CREB
* GluR2
* NF-κB
* Epigenetic
* G9a
* G9a-like protein
* HDAC1
* HDAC2
* HDAC3
* HDAC4
* HDAC5
* HDAC9
* HDAC10
* SIRT1
* SIRT2
* ...
Dependence
Concepts
* Physical dependence
* Psychological dependence
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Disorders
* Drugs
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Treatment and management
Detoxification
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Behavioral therapies
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Support groups
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* Managed alcohol program
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* Needle exchange program
* Responsible drug use
* Stimulant maintenance
* Supervised injection site
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See also
* Addiction medicine
* Allen Carr
* Category:Addiction
* Discrimination against drug addicts
* Dopamine dysregulation syndrome
* Cognitive control
* Inhibitory control
* Motivational salience
* Incentive salience
* Sober companion
* Category
* v
* t
* e
Psychopathy
Contexts
* In fiction
* In the workplace
Characteristics
* Anti-social behaviour
* Bold
* Callous
* Diminished empathy
* Disinhibited
* Grandiose
* Impulsive
* Lack of guilt
* Manipulative
* Pathological lying
* Remorseless
* Shallow affect
* Superficially charming
Related topics
* Antisocial personality disorder
* Conduct disorder
* Dark triad
* Flying monkeys
* History of psychopathy
* Juvenile delinquency
* Machiavellianism
* Macdonald triad
* Narcissism
* Psychopathic Personality Inventory
* Psychopathy Checklist
* Sadistic personality disorder
* Sexual sadism disorder
* Sociopathy
Notable theorists
* Hervey M. Cleckley
* George E. Partridge
* Robert D. Hare
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pathological lying
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c2242663
| 25,882 |
wikipedia
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https://en.wikipedia.org/wiki/Pathological_lying
| 2021-01-18T18:48:56 |
{"umls": ["C2242663"], "wikidata": ["Q370098"]}
|
A number sign (#) is used with this entry because of evidence that multiple epiphyseal dysplasia-6 (EDM6) is caused by heterozygous mutation in the COL9A1 gene (120210) on chromosome 6p13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see 132400.
Clinical Features
Czarny-Ratajczak et al. (2001) reported a family with multiple epiphyseal dysplasia. The 30-year-old proband had knee pains and difficulty walking since 10 years of age. Radiographs showed early osteoarthritis of one knee, Schmorl nodes, endplate irregularities, anterior osteophytes in the thoracolumbar vertebrae, and normal hips. Radiographs of the proband's affected mother, whose symptoms did not begin until age 45 years, showed widespread and severe osteoarthritis in all joints.
Molecular Genetics
In a proband with multiple epiphyseal dysplasia, Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001). His affected mother had the same mutation, which was not found in his unaffected sister or in 600 control chromosomes.
INHERITANCE \- Autosomal dominant SKELETAL \- Multiple epiphyseal dysplasia \- Early onset osteoarthritis Spine \- Endplate irregularities (thoracic-lumbar vertebrae) \- Schmorl's nodes \- Anterior osteophytes (thoracic-lumbar vertebrae) Pelvis \- Hip arthralgia Limbs \- Knee arthralgia \- Irregular epiphyses (knee) MISCELLANEOUS \- Onset in childhood \- MED is a heterogeneous disorder (see MED1 ( 132400 ), MED2 ( 600204 ), MED3 ( 600969 ), MED4 ( 226900 ), MED5 ( 608078 ), and MED with diabetes mellitus ( 226980 )) MOLECULAR BASIS \- Caused by mutation in the collagen IX, alpha-1 polypeptide gene (COL9A1, 120210.0001 ) ▲ 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
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
|
c2675767
| 25,883 |
omim
|
https://www.omim.org/entry/614135
| 2019-09-22T15:56:19 |
{"doid": ["0070301"], "omim": ["614135"], "orphanet": ["166002"], "synonyms": [], "genereviews": ["NBK1123"]}
|
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant adult-onset proximal spinal muscular atrophy
|
c1854058
| 25,884 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209335
| 2021-01-23T18:20:37 |
{"mesh": ["C566673"], "omim": ["182980"], "umls": ["C1854058", "C1866777"], "icd-10": ["G12.1"], "synonyms": ["Autosomal dominant adult-onset proximal SMA", "Autosomal dominant late-onset spinal muscular atrophy, Finkel type", "Finkel disease", "SMAFK"]}
|
Benedikt syndrome
Other namesParamedian midbrain syndrome
SpecialtyNeurology
Benedikt syndrome, also called Benedikt's syndrome or paramedian midbrain syndrome, is a rare type of posterior circulation stroke of the brain, with a range of neurological symptoms affecting the midbrain, cerebellum and other related structures.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
It is characterized by the presence of an oculomotor nerve (CN III) palsy and cerebellar ataxia including tremor and involuntary choreoathetotic movements. Neuroanatomical structures affected include the oculomotor nucleus, red nucleus, corticospinal tracts and superior cerebellar peduncle decussation. It has a similar cause, morphology, signs and symptoms to Weber's syndrome; the main difference between the two being that Weber's is more associated with hemiplegia (i.e. paralysis), and Benedikt's with hemiataxia (i.e. disturbed coordination of movements). It is also similar to Claude's syndrome, but is distinguishable in that Benedikt's has more predominant tremor and choreoathetotic movements while Claude's is more marked by the ataxia.[citation needed]
## Causes[edit]
Benedikt syndrome is caused by a lesion (infarction, hemorrhage, tumor, or tuberculosis) in the tegmentum of the midbrain and cerebellum. Specifically, the median zone is impaired. It can result from occlusion of the posterior cerebral artery[1] or paramedian penetrating branches of the basilar artery.[2]
## Diagnosis[edit]
* Oculomotor nerve palsy: eyeball gazing downward and outward position, diplopia, miosis, mydriasis, and loss of accommodation reflex.
* Contralateral loss of proprioception and vibration sensations.
* Cerebellar ataxia: involuntary movements.
## Treatment[edit]
Deep brain stimulation may provide relief from some symptoms of Benedikt syndrome, particularly the tremors associated with the disorder.[3]
## See also[edit]
* Claude's syndrome
* Wallenberg syndrome
## References[edit]
1. ^ Akdal G, Kutluk K, Men S, Yaka E (Jan 2005). "Benedikt and "plus-minus lid" syndromes arising from posterior cerebral artery branch occlusion". Journal of the Neurological Sciences. 228 (1): 105–107. doi:10.1016/j.jns.2004.09.029. PMID 15607218.
2. ^ AMA citation: Greenberg DA, Simon RP. Chapter 3. Disorders of Equilibrium. In: Greenberg DA, Simon RP, eds. Clinical Neurology. 7th ed. New York: McGraw-Hill; 2009. http://www.accessmedicine.com/content.aspx?aID=5146162. Accessed July 21, 2012
3. ^ Bandt SK, Anderson D, Biller J (Oct 2008). "Deep brain stimulation as an effective treatment option for post-midbrain infarction-related tremor as it presents with Benedikt syndrome". Journal of Neurosurgery. 109 (4): 635–639. doi:10.3171/JNS/2008/109/10/0635. PMID 18826349.
## External links[edit]
Classification
D
* ICD-10: G46.3
* ICD-9-CM: 344.89
* DiseasesDB: 32780
* v
* t
* e
Cerebrovascular diseases including stroke
Ischaemic stroke
Brain
* Anterior cerebral artery syndrome
* Middle cerebral artery syndrome
* Posterior cerebral artery syndrome
* Amaurosis fugax
* Moyamoya disease
* Dejerine–Roussy syndrome
* Watershed stroke
* Lacunar stroke
Brain stem
* Brainstem stroke syndrome
* Medulla
* Medial medullary syndrome
* Lateral medullary syndrome
* Pons
* Medial pontine syndrome / Foville's
* Lateral pontine syndrome / Millard-Gubler
* Midbrain
* Weber's syndrome
* Benedikt syndrome
* Claude's syndrome
Cerebellum
* Cerebellar stroke syndrome
Extracranial arteries
* Carotid artery stenosis
* precerebral
* Anterior spinal artery syndrome
* Vertebrobasilar insufficiency
* Subclavian steal syndrome
Classification
* Brain ischemia
* Cerebral infarction
* Classification
* Transient ischemic attack
* Total anterior circulation infarct
* Partial anterior circulation infarct
Other
* CADASIL
* Binswanger's disease
* Transient global amnesia
Haemorrhagic stroke
Extra-axial
* Epidural
* Subdural
* Subarachnoid
Cerebral/Intra-axial
* Intraventricular
Brainstem
* Duret haemorrhages
General
* Intracranial hemorrhage
Aneurysm
* Intracranial aneurysm
* Charcot–Bouchard aneurysm
Other
* Cerebral vasculitis
* Cerebral venous sinus thrombosis
* 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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Benedikt syndrome
|
c0455715
| 25,885 |
wikipedia
|
https://en.wikipedia.org/wiki/Benedikt_syndrome
| 2021-01-18T18:36:30 |
{"mesh": ["D020526"], "icd-9": ["344.89"], "icd-10": ["G46.3"], "wikidata": ["Q816912"]}
|
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Craniosynostosis, Boston type
|
c1858160
| 25,886 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1541
| 2021-01-23T16:56:03 |
{"gard": ["5538"], "mesh": ["C565753"], "omim": ["604757"], "umls": ["C2931287"], "icd-10": ["Q75.8"], "synonyms": ["Craniosynostosis, Warman type", "Warman-Mulliken-Hayward syndrome"]}
|
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
## Epidemiology
The prevalence of microphthalmia is 1:7,000, anophthalmia is 1:30,000 and coloboma is 1:5,000 live births, with combined prevalence 3-30:100,000 births. Associated malformations affect 32-93% of the patients. There is no clear predilection for ethnicity or gender.
## Clinical description
Microphthalmia-anophthalmia-coloboma (MAC) consists of phenotypic continuum of congenital eye defects that are manifest at birth. In some cases, such as retinal coloboma or mild microphthalmia, detection may occur later in life. True anophthalmia is the abortion of eye development at the developing optic vesicle stage (3-4 weeks gestation) leading to absence of the eye, optic nerve and chiasm. Commonly clinical anophthalmia (also referred to as severe microphthalmia) occurs, where a small cystic remnant is detectable on pathology/imaging. Nanophthalmos and posterior microphthalmia, are rare subsets of microphthalmia, where overall the eye is structurally normal but it has a reduced axial length of <20 mm with high hypermetropia. Ocular coloboma may involve the inferonasal aspect of the eye, including the iris, ciliary body, zonules, retina, retinal pigment epithelium (RPE), choroid and/or optic disc.
## Etiology
MAC has a complex etiology, with monogenic, chromosomal and environmental causes. SOX2, OTX2 and STRA6 variants account for 75% of bilateral anophthalmia/severe microphthalmia. Chromosomal abnormalities account for 20-30% of MAC. Environmental factors associated with anophthalmia include maternally-acquired infections, smoking and antenatal exposure to certain medications. Maternal vitamin A deficiency, alcohol abuse and use of teratogenic drugs during pregnancy have been linked to coloboma and microphthalmia.
## Diagnostic methods
Postnatal diagnosis can be made through clinical examination, with confirmation of true/clinical anophthalmia through MRI brain and orbit imaging. Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing.
## Differential diagnosis
Differential diagnoses includes aniridia, anterior segment dysgenesis, congenital corneal opacity, sclerocornea, cryptophthalmos, cyclopia and congenital cystic eye. MAC may also occur as part of various syndromes, and thus examination by specialists for the presence of systemic features (e.g. associated neurological or pituitary defects) is recommended. Genetic diagnosis may aid the identification of potential systemic anomalies.
## Antenatal diagnosis
Prenatal diagnosis of anophthalmia or microphthalmia may be made through 2D or 3D ultrasonography during the second trimester (or 12 weeks post-conception with a transvaginal ultrasound) or fetal magnetic resonance imaging to visualize the orbit.
## Genetic counseling
Genetic counselling can be challenging due to the range of known genetic causes and phenotypic variability. Prediction of inheritance pattern is often difficult, due to de novo changes, mosaicism and non-penetrance. If a genetic diagnosis is established, informed family planning advice can be provided including prenatal and preimplantation diagnosis.
## Management and treatment
There is no treatment for MAC patients. They should be managed by a multidisciplinary team of specialists, including ophthalmologists, pediatricians and clinical geneticists. If there is visual potential, children should be monitored to maximize vision by correcting refractive error or squints, and preventing amblyopia. Fundus examinations are required in patients with chorioretinal coloboma as it is associated with a risk of retinal detachment. Low vision should be supported using visual aids. Significant microphthalmic or anophthalmic eyes may undergo socket expansion using enlarging cosmetic shells/conformers to minimize facial deformity.
## Prognosis
Isolated MAC are structural birth defects with no treatment available.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Isolated microphthalmia-anophthalmia-coloboma
|
c1834919
| 25,887 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2542
| 2021-01-23T17:27:52 |
{"gard": ["12085"], "mesh": ["C563582"], "omim": ["156850", "251600", "610093", "611038", "613094", "613517", "613704", "615113"], "icd-10": ["Q11.0", "Q11.1", "Q11.2"], "synonyms": ["Isolated anophthalmia-microphthalmia syndrome"]}
|
Caudal duplication
Other namesSplit notochord syndrome[1]
Caudal duplication, (or caudal duplication syndrome) is a rare congenital disorder in which various structures of the caudal region, embryonic cloaca, and neural tube exhibit a spectrum of abnormalities such as duplication and malformations.[2] The exact causes of the condition is unknown,[2] though there are several theories implicating abnormal embryological development as a cause for the condition.[3] Diagnosis is often made during prenatal development of the second trimester through anomaly scans or immediately after birth.[4] However, rare cases of adulthood diagnosis has also been observed. Treatment is often required to correct such abnormalities according to the range of symptoms present,[4] whilst treatment options vary from conservative expectant management to resection of caudal tissue to restore normal function or appearance.[5] As a rare congenital disorder, the prevalence at birth is less than 1 per 100,000 [3] with less than 100 cases reported worldwide.[6]
The term "caudal duplication syndrome" has been coined since 1993[2] to describe caudal abnormalities and conditions. However, there has been recent debate into the appropriateness of the term being "caudal split syndrome" instead of caudal duplication due to the "splitting" nature of the abnormalities, rather than "duplication".[5]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 Gastrointestinal tract
* 4.2 Genitourinary tract
* 4.3 Spinal and lower limb tract
* 5 Epidemiology
* 6 History
* 7 References
## Signs and symptoms[edit]
The condition’s symptoms vary greatly due to the diverse spectrum of gastrointestinal (GI), urogenital (genitourinary, GU), spinal, and limb anomalies.[7] Common examples include anorectal malformation, and duplication of the external genitalia,[7] while other symptoms include incomplete duplication of the lower spine, spinal cord, (diastematomyelia) [8] partial fusion of complete duplication of the uterus, vagina, colon, and bladder.[9]
Malformations of the spine have indicated to cause varying levels of neurological impairment.[8] Although the level of neurological impairment is dependent upon the severity and type of spinal abnormality, most reported cases of spinal cord duplication exhibit severe neurological impairment,[8] though cases of mild or absent neurological impairment has also been observed.[8]
Though patients often present a diverse variety of symptoms, a case was observed in which a female adult with duplication of the colon, rectum, anus, urinary bladder, urethra, uterus, cervix, vagina, and external genitalia exhibited no detrimental effects.[4] This suggests that rarely seen cases of complete duplication of the urogenital and gastrointestinal tract are often asymptomatic.[10]
As patients often present a multitude of differing symptoms within the caudal region, each patient exhibits a unique, characterised symptom which may or may not be cosmetically or physiologically detrimental to the individual.[2]
Summary of Caudal Duplication Anomalies Classification[2] Anomalies and salient clinical features[2]
Gastrointestinal tract anomalies
* Duplication of colon, cecum, ani, appendix, and ileum
* Agenesis, atresia, cyst, herniation, omphalocele, imperforate anus, and rectal fistula
* Meckel’s diverticulum, intestinal malrotation, and situs inversus
Genitourinary tract anomalies
* Duplication of external and internal genitalia, vagina, cervix, bladder, urethra, uterus, ureter, scrotum, and testis
* Bilateral exstrophy of bladder, cryptorchidism, malrotation, agenesis of kidney, rectourethral fistula, urinary disturbances including incontinence and retention
Spinal anomalies (includes lower limb anomalies)
* Duplication of lumbar and thoracic vertebrae, sacrum, coccyx, illium, and spinal cord
* Hemivertebra, sacral agenesis, myelomeningocele, diplomyelia, spina bifida, and diastematomyelia[8]
* Third leg from meningocele
## Causes[edit]
The exact cause of the condition is unknown.[2] Although various theories indicate incomplete separation of monozygotic twins as an etiological factor,[3] abnormal adherence between the ectoderm and endoderm during gastrulation,[7] polytopic primary developmental field defects,[11] somatic and germ line mutations in developmental genes,[3] and damage to the caudal cell mass and posterior gut have also been linked to cause structural anomalies in the caudal region.[7]
It is speculated that the condition is related to the HOX gene,[3] namely HOX10 and HOX11. Normally coding for the mammalian appendicular and axial skeleton, misexpression of the genetic factors could lead to abnormal proliferation of the caudal mesenchyme.[3]
Embryology is suggested to have an intimate association with the development of caudal duplication syndrome.[2] At day 15 after fertilisation, the notochord grows from the primitive knot, in which it invaginates and forms the notochord canal within.[2] Progressively, on day 20, the ventral wall of the notochord dissolves, while communications are formed between the amniotic and yolk sac.[2] One such connection is the Kovalevsky’s canal. From the 23rd to 25th day of gestation, the spinal cord develops except for its distal-most aspect where the notochord and neural tube are joined to form the caudal cell mass.[2] The canal of Kovalevsky crosses the caudal cell mass, while endoderm located anteriorly to the cell mass develops into the hindgut, various insults towards the cell mass and hindgut during the stage of development may lead to the development of caudal anomalies, one of which is caudal duplication syndrome.[2]
The incomplete regression of Kovalevsky’s canal may also lead to formations of fibrous bands joining the hindgut to the spinal canal,[5] possibly leading to the onset of diastemetaomyelia.[4] These bands may divide the notochord, developing into duplications of the lower spine and spinal cord, the adjacent mesoderm is also divided, resulting in duplicates of GI and GU tracts.[4] Subsequently, the duplications can also lead to the presence of a range of anomalies including dorsal enteric fistulas, enteric cysts, spina bifida, malformed or duplicated colon, bladder, sacrum, and lower spinal cord.[2][12]
Moreover, a midline pelvic mass defect during gestation could be an obstacle to caudal migration of paramesonephric structures (Müllerian duct), which could lead to duplication of the genital tract.[2] Whilst failures of migration or fusion of those structures is one of the more prevalent embryological theories for duplication of lower genitourinary organs such as the bladder.[2] Intestinal duplications extending into the rectum or anus is often rare.[2][6] However, if the caudal cell mass is divided early, duplications of the distal bowel may still occur.[2]
In gastrointestinal abnormalities, a mechanism known as “caudal twinning”[3] is proposed in which during the 23rd to 25th day of gestation, the intestinal tract is filled by rapid proliferation of endothelial cells, as the gut increases in size, vacuoles appear within the cell masses to constitute a single lumen.[2][4] However, in abnormal cases where a vacuole is pinched off, a second lumen is created.[4] The second lumen is then proposed to magnify in size in proportion to the growth of the colon, effectively duplicating all caudal structures distal from the point of separation.[2][10]
## Diagnosis[edit]
The condition can often be seen as malformations that can be diagnosed by a prenatal anomaly scan in the second trimester, while progressively detailed examinations can be conducted after the first day of life of the baby.[3] If an abnormality is detected early on, psychological and surgical preparation may be required to resort to a cesarean section to prevent obstructed labour, in which medical paediatric and surgical care soon follows after delivery.[13][14][15]
Diagnosis during adulthood is extremely rare[2] in cases where abnormalities are asymptomatic or are not visible upon physical inspection upon prenatal or birth inspections.[6] Similarly to paediatric and prenatal diagnosis, an adulthood diagnosis can be made through various imaging modalities[4] such as computed tomography (CT) scans to explicitly define the range of symptoms present in caudal duplication.[13]
## Treatment[edit]
The rare, complex syndrome includes a wide spectrum of malformations ranging from partial or isolated to complete duplication of caudal organs in GI, GU, and neural systems.[13] The syndrome may cause functional impairments such as an imperforate anus and hernia which may lead to death due to shock and organ failure and require prompt surgical intervention,[16] but most presented symptoms are not life-threatening and duplicated organs are in fact functional in many cases.[2][6] For instance, patients with genital duplication are mostly expected to have normal menstruation, sexual intercourse, and even pregnancy,[17] although their self-esteem and quality of life may be influenced.[5] Since the clinical presentation of each patient and its complexity vary greatly, the management which usually includes surgery are carefully planned and individualised based on the extent of duplication and functionality of the involved organs.[4]
An extensive medical work-up is required primarily before prognosis to understand the anatomy of patients and to decide appropriate treatment. Imaging modalities such as echocardiography, conventional X-ray, magnetic resonance imaging (MRI), ultrasonography, barium enema, computed tomography (CT) scan, and voiding cystourethrography (VCU) can be used to examine anomalies in detail.[3][4][13] Exploratory laparotomy can also be conducted when needed.[7] In most cases, surgical approach is utilised to excise or fuse the duplicated organs;[3][7][18] however, surgical intervention is not a compulsory procedure for patients that do not exhibit functional deterioration and symptoms.[4] Based on the work-up results, a multidisciplinary team consisting of a (paediatric) surgeon, a urologist, and a neurosurgeon plans individualised, staged correction.[19]
If a prenatal or after birth diagnosis is made, medical paediatric and surgery care are organised soon after delivery.[15] Adults with the syndrome, however, usually do not require surgical treatment unless accompanied by symptoms or psychological issues.[4][6] Reconstructive surgeries are performed to resolve the issue of functional impairments such as obstruction of colon, anatomic anomalies that hinder movement or cause infertility, and to improve cosmetic appearances in the case of genital duplication.[4]
### Gastrointestinal tract[edit]
Treatments for colonic duplication varies from conservative management for asymptomatic cases to excision of duplicated colon to avoid potential issues such as colon structure and obstruction.[4][7] Resection is possible when each duplicated colon has a complete blood supply. If the duplicated colons share a wall, a septotomy can be performed to create a small hole to connect two colons.[4][7] In cases where rectum is also duplicated, either the rectums should be converted into one reservoir through septotomy followed by anorectoplasty or the duplicated colon and rectum should be removed and colostomies should be constructed.[4] For patients with poor prognosis for bowel control, a Malone procedure can be utilised during the colostomy.[4] Alternatively, in cases of renal duplication, the Mitrofanoff procedure is performed instead.[4]
### Genitourinary tract[edit]
Duplication of genital tract that does not involve functional impairment does not require surgical intervention; however, plastic surgery can be carried out to improve patients’ self-esteem and social status.[18] For duplication of female genital tract, the septum between duplicated organs such as vagina, cervix, and vulva are resected to combine two duplicated organs into one or one duplicated organ could be detached and excised.[18] For male patients, one duplicated genitalia can be removed, and duplicated scrotum and testis can be either combined or excised.[15] The external genitalia of both male and female can be reconstructed by midline apposition of tissues.[18] For duplication of urinary tract, bladders can be combined to form a single larger bladder without altering the duplicated ureters.[18]
### Spinal and lower limb tract[edit]
In cases of spine duplication, prophylactic surgery can be done to remove one duplicated spine, although it depends on the severity of duplication.[20] In cases of malformation of the neural cord such as myelomeningocele and tethered cord which accompanies severe symptoms, preserving neurological function is the utmost importance by closing myelomeningocele and detethering the neural cord.[4] This is a highly complex procedure that requires extreme caution not to injure the rectum in which case can cause a cerebrospinal fluid infection.[4] For duplication of lower limb which not only hinders patients’ gait but also is highly visible and may affect patients’ self-esteem, excision of the supernumerary, non-functional pair of limb is often carried out.[15]
Due to the spectrum of symptoms present within caudal duplication, there is no uniform surgical treatment in relieving symptoms.[19] The type and severity of surgical intervention is often dependent upon the type and complexity of symptoms presented.[19] Thus, the primary goal of surgical treatment for the syndrome is to relieve symptoms, not to restore normal anatomy, and hence, potentially life-threatening malformations are addressed first and often followed by other anatomic or aesthetic reconstructions in later stages.[4][6] After the medical treatment, the patients are periodically monitored.[18][15]
## Epidemiology[edit]
Caudal duplication syndrome is a rare condition with only less than 100 patients in literature worldwide as of 2014 with only 2 patients diagnosed in adulthood.[6] The prevalence of the syndrome is less than one per 100,000 births.[5] The sex ratio of male to female patients is about 1:2, with no familial or racial predisposition has been found.[19]
## History[edit]
The first systematic review for caudal duplication symptoms was done and the term "caudal duplication syndrome" was first proposed in 1993.[2] The term was coined to describe rare anomalies associated with complete or partial duplication of caudal structures resulted from insults during embryogenesis to distinguish symptoms of spinal duplication syndrome which only involves spinal duplicity, only when there is associated complete or partial duplicity of vascular structures and/or organs such as bladder and distal gastrointestinal tract the term caudal duplication syndrome can be used.[12]
However, recently in 2013, it was suggested that “duplication” is a misnomer based on an analysis of two cases and literature review in which researchers found “hemi” organs was “split” not duplicated, proposing caudal “split” syndrome may be a more appropriate title.[5]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Caudal duplication". www.orpha.net. Retrieved 27 October 2019.
2. ^ a b c d e f g h i j k l m n o p q r s t u v Dominguez R, Rott J, Castillo M, Pittaluga RR, Corriere JN (October 1993). "Caudal Duplication Syndrome". Archives of Pediatrics & Adolescent Medicine. 147 (10): 1048–52. doi:10.1001/archpedi.1993.02160340034009. PMID 8213674.
3. ^ a b c d e f g h i j Sur A, Sardar SK, Paria A (April 2013). "Caudal duplication syndrome". Journal of Clinical Neonatology. 2 (2): 101–2. doi:10.4103/2249-4847.116412. PMC 3775131. PMID 24049755.
4. ^ a b c d e f g h i j k l m n o p q r s t u Samuk I, Levitt M, Dlugy E, Kravarusic D, Ben-Meir D, Rajz G, et al. (December 2016). "Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction". European Journal of Pediatric Surgery Reports. 4 (1): 001–005. doi:10.1055/s-0035-1570370. PMC 5177553. PMID 28018799.
5. ^ a b c d e f Molinaro F, Cerchia E, Bulotta AL, Angotti R, Di Maggio G, Bianchi A, Messina M (October 2013). "Caudal 'duplication' or 'split' syndrome: Is there a misnomer?". Journal of Pediatric Surgery Case Reports. 1 (10): 351–356. doi:10.1016/j.epsc.2013.09.007.
6. ^ a b c d e f g Goil P, Bannerjee A (2015-04-10). "A Rare Presentation of Caudal Duplication Syndrome in an Adult with No Functional Impairment". Journal of Case Reports. 4 (2): 324–327. doi:10.17659/01.2014.0081.
7. ^ a b c d e f g h Swaika S, Basu S, Bhadra RC, Sarkar R, Maitra SK (June 2013). "Caudal duplication syndrome-report of a case and review of literature". The Indian Journal of Surgery. 75 (Suppl 1): 484–7. doi:10.1007/s12262-013-0838-z. PMC 3693374. PMID 24426655.
8. ^ a b c d e Taneja AK, Zaffani G, Amato-Filho AC, Queiroz L, Zanardi V, Menezes-Netto JR (September 2009). "Caudal duplication syndrome". Arquivos de Neuro-Psiquiatria. 67 (3A): 695–6. doi:10.1590/S0004-282X2009000400023. PMID 19722052.
9. ^ Online Mendelian Inheritance in Man (OMIM): Caudal Duplication Anomaly - 607864
10. ^ a b Shah KR, Joshi A (March 2006). "Complete genitourinary and colonic duplication: a rare presentation in an adult patient". Journal of Ultrasound in Medicine. 25 (3): 407–11. doi:10.7863/jum.2006.25.3.407. PMID 16495506.
11. ^ Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ (November 2002). "Two cases of the caudal duplication anomaly including a discordant monozygotic twin". American Journal of Medical Genetics. 112 (4): 390–3. doi:10.1002/ajmg.10594. PMID 12376942.
12. ^ a b Pang D, Dias MS, Ahab-Barmada M (September 1992). "Split cord malformation: Part I: A unified theory of embryogenesis for double spinal cord malformations". Neurosurgery. 31 (3): 451–80. doi:10.1227/00006123-199209000-00010. PMID 1407428.
13. ^ a b c d Hu T, Browning T, Bishop K (March 2016). "Caudal duplication syndrome: imaging evaluation of a rare entity in an adult patient". Radiology Case Reports. 11 (1): 11–5. doi:10.1016/j.radcr.2015.12.001. PMC 4769617. PMID 26973727.
14. ^ Hindryckx A, De Catte L (2011). "Prenatal diagnosis of congenital renal and urinary tract malformations". Facts, Views & Vision in ObGyn. 3 (3): 165–74. PMC 3991456. PMID 24753862.
15. ^ a b c d e Bandré E, Wandaogo A, Kabre SM, Ouedraogo I, Napon M (Nov 2015). "Challenges in the management of a rare case of caudal duplication syndrome in a poor resource setting". Journal of Pediatric Surgery Case Reports. 3 (11): 508–511. doi:10.1016/j.epsc.2015.10.003.
16. ^ Acer T, Ötgün İ, Sağnak Akıllı M, Gürbüz EE, Güney LH, Hiçsönmez A (May 2013). "A newborn with caudal duplication and duplex imperforate anus". Journal of Pediatric Surgery. 48 (5): E37-43. doi:10.1016/j.jpedsurg.2013.03.068. PMID 23701807.
17. ^ Lin PC, Bhatnagar KP, Nettleton GS, Nakajima ST (November 2002). "Female genital anomalies affecting reproduction". Fertility and Sterility. 78 (5): 899–915. doi:10.1016/S0015-0282(02)03368-X. PMID 12413972.
18. ^ a b c d e f Molinaro F, Cerchia E, Bulotta AL, Angotti R, Di Maggio G, Bianchi A, Messina M (Oct 2013). "Caudal 'duplication' or 'split' syndrome: Is there a misnomer?". Journal of Pediatric Surgery Case Reports. 1 (10): 351–356. doi:10.1016/j.epsc.2013.09.007.
19. ^ a b c d Ramzan M, Ahmed S, Ali S (January 2014). "Caudal duplication syndrome" (PDF). Journal of the College of Physicians and Surgeons--Pakistan. 24 (1): 64–6. PMID 24411548.
20. ^ Cebesoy O, Mete A, Karsli B (Feb 2009). "Complete lumbar spine duplication in a neurologically intact man". The Journal of Spinal Cord Medicine. 32 (1): 99–102. doi:10.1080/10790268.2009.11760759. PMC 2647508. PMID 19264056.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Caudal duplication
|
c1842884
| 25,888 |
wikipedia
|
https://en.wikipedia.org/wiki/Caudal_duplication
| 2021-01-18T19:06:04 |
{"mesh": ["C564315"], "umls": ["C1842884"], "wikidata": ["Q65085947"]}
|
Lupus headache is a proposed, specific headache disorder in patients suffering from systemic lupus erythematosus (SLE).[1][2] Research shows that headache is a symptom commonly described by SLE patients —57% in one meta-analysis, ranging in different studies from 33% to 78%;[3] of which migraine 31.7% and tension-type headache 23.5%. The existence of a special lupus headache is contested, although few high-quality studies are available to form definitive conclusions.[4][5]
## Contents
* 1 Definition
* 2 Criticism
* 3 Mechanism
* 4 Diagnosis
* 5 Footnotes
## Definition[edit]
Lupus headache is an important item in the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), a scoring system often used in lupus research.[6] The SLEDAI describes lupus headache as a "severe, persistent headache; may be migrainous, but must be nonresponsive to narcotic analgesia".[4] A score of 8 is given to this item (items are given a relative weight of 1, 2, 4 or 8).
The 1999 American College of Rheumatology case definitions of neuropsychiatric syndromes in SLE do not define lupus headache, but rather propose several headache disorders loosely based on the International Headache Society (IHS) classification.
In the IHS scheme, headache due to lupus would be classified as "Headache attributed to other non-infectious inflammatory disease" (7.3.3). This label requires evidence of a disease flare accompanying the headache, and resolution of the headache with immunosuppressant treatment. However, a meta-analysis found no correlation between headaches and disease activity.[5]
## Criticism[edit]
Critics of this concept argue that there are no quality studies showing that headaches in patients with SLE differ from those in the general population. A detailed definition of the term lupus headache is lacking, since the terms "severe" and "persistent" are not quantified. Narcotic analgesics are not recommended for migraines or other common headache types. Other definitions from the IHS do not include responsiveness to treatments as a diagnostic criterion.[3] Migraine patients are typically adult women around age 40, a demographic group in which SLE is also more common.[7]
## Mechanism[edit]
Some (but not all) studies have shown an association between (migraine) headaches in SLE and associated Raynaud's phenomenon and/or anti-cardiolipin antibodies.[8][9][10][11][12][13][14][15] Further studies are needed however to prove the underlying assumption that cerebral vasospasm causes migraines in lupus patients.
## Diagnosis[edit]
Although specific complications of SLE may cause headache (such as cerebral venous sinus thrombosis or posterior reversible encephalopathy syndrome), it remains unclear whether specific investigations (such as lumbar puncture or magnetic resonance imaging, MRI) are needed in lupus patients presenting with headache. Although studies using MRI or single-photon emission computed tomography (SPECT) often find abnormalities,[16][17] the value of these findings remains unclear, and they have not been able to distinguish a special "lupus headache" from other headache types in people with lupus.[18][19]
## Footnotes[edit]
1. ^ Cuadrado MJ, Sanna G (2003). "Headache and systemic lupus erythematosus". Lupus. 12 (12): 943–6. doi:10.1191/0961203303lu506oa. PMID 14714915.
2. ^ "Lupus Headache".
3. ^ a b Davey R, Bamford J, Emery P (March 2008). "The ACR classification criteria for headache disorders in SLE fail to classify certain prevalent headache types". Cephalalgia. 28 (3): 296–9. doi:10.1111/j.1468-2982.2007.01510.x. PMID 18254898.
4. ^ a b Davey R, Bamford J, Emery P (August 2007). "The validity of the inclusion of "lupus headache" in the Systemic Lupus Erythematosus Disease Activity Index". Arthritis Rheum. 56 (8): 2812–3. doi:10.1002/art.22798. PMID 17665430.
5. ^ a b Mitsikostas DD, Sfikakis PP, Goadsby PJ (May 2004). "A meta-analysis for headache in systemic lupus erythematosus: the evidence and the myth". Brain. 127 (Pt 5): 1200–9. doi:10.1093/brain/awh146. PMID 15047589.
6. ^ Brunner HI, Jones OY, Lovell DJ, Johnson AM, Alexander P, Klein-Gitelman MS (2003). "Lupus headaches in childhood-onset systemic lupus erythematosus: relationship to disease activity as measured by the systemic lupus erythematosus disease activity index (SLEDAI) and disease damage". Lupus. 12 (8): 600–6. doi:10.1191/0961203303lu430oa. PMID 12945718.
7. ^ Omdal R (2002). "Some controversies of neuropsychiatric systemic lupus erythematosus". Scand. J. Rheumatol. 31 (4): 192–7. doi:10.1080/030097402320318369. PMID 12369649.
8. ^ Bernatsky S, Pineau CA, Lee JL, Clarke AE (2006). "Headache, Raynaud's syndrome and serotonin receptor agonists in systemic lupus erythematosus". Lupus. 15 (10): 671–4. doi:10.1177/0961203306069997. PMID 17120594.
9. ^ Bettero RG, Rahal MY, Barboza JS, Skare TL (December 2007). "Headache and systemic lupus erythematosus: prevalence and associated conditions". Arq Neuropsiquiatr (in Portuguese). 65 (4B): 1196–9. doi:10.1590/S0004-282X2007000700020. PMID 18345429.
10. ^ Annese V, Tomietto P, Venturini P, D'Agostini S, Ferraccioli G (2006). "[Migraine in SLE: role of antiphospholipid antibodies and Raynaud's phenomenon]" (PDF). Reumatismo (in Italian). 58 (1): 50–8. doi:10.4081/reumatismo.2006.50. PMID 16639488.
11. ^ Lessa B, Santana A, Lima I, Almeida JM, Santiago M (November 2006). "Prevalence and classification of headache in patients with systemic lupus erythematosus". Clin. Rheumatol. 25 (6): 850–3. doi:10.1007/s10067-005-0186-x. PMID 16437362.
12. ^ Weder-Cisneros ND, Téllez-Zenteno JF, Cardiel MH, et al. (December 2004). "Prevalence and factors associated with headache in patients with systemic lupus erythematosus". Cephalalgia. 24 (12): 1031–44. doi:10.1111/j.1468-2982.2004.00822.x. PMID 15566417.
13. ^ Appenzeller S, Costallat LT (December 2004). "Clinical implications of migraine in systemic lupus erythematosus: relation to cumulative organ damage". Cephalalgia. 24 (12): 1024–30. doi:10.1111/j.1468-2982.2004.00785.x. PMID 15566416.
14. ^ Whitelaw DA, Hugo F, Spangenberg JJ, Rickman R (2004). "Headaches in patients with systemic lupus erythematosus: a comparative study". Lupus. 13 (7): 501–5. doi:10.1191/0961203304lu1050oa. PMID 15352420.
15. ^ Sfikakis PP, Mitsikostas DD, Manoussakis MN, Foukaneli D, Moutsopoulos HM (March 1998). "Headache in systemic lupus erythematosus: a controlled study". Br. J. Rheumatol. 37 (3): 300–3. doi:10.1093/rheumatology/37.3.300. PMID 9566671.
16. ^ Nobili F, Mignone A, Rossi E, et al. (November 2006). "Migraine during systemic lupus erythematosus: findings from brain single photon emission computed tomography". J. Rheumatol. 33 (11): 2184–91. PMID 17086605. Archived from the original on 2011-07-13. Retrieved 2009-02-02.
17. ^ Colamussi P, Giganti M, Cittanti C, et al. (January 1995). "Brain single-photon emission tomography with 99mTc-HMPAO in neuropsychiatric systemic lupus erythematosus: relations with EEG and MRI findings and clinical manifestations". Eur J Nucl Med. 22 (1): 17–24. doi:10.1007/BF00997243. PMID 7698150.
18. ^ Castellino G, Padovan M, Bortoluzzi A, et al. (March 2008). "Single photon emission computed tomography and magnetic resonance imaging evaluation in SLE patients with and without neuropsychiatric involvement". Rheumatology (Oxford). 47 (3): 319–23. doi:10.1093/rheumatology/kem354. PMID 18218648.
19. ^ Kovacs JA, Urowitz MB, Gladman DD, Zeman R (July 1995). "The use of single photon emission computerized tomography in neuropsychiatric SLE: a pilot study". J. Rheumatol. 22 (7): 1247–53. PMID 7562753.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lupus headache
|
c3898566
| 25,889 |
wikipedia
|
https://en.wikipedia.org/wiki/Lupus_headache
| 2021-01-18T18:54:27 |
{"wikidata": ["Q3634866"]}
|
A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalcuria, among others.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
IMAGe syndrome
|
c1846009
| 25,890 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85173
| 2021-01-23T18:03:51 |
{"gard": ["12312"], "mesh": ["C564543"], "omim": ["614732"], "umls": ["C1846009"], "icd-10": ["Q87.1"], "synonyms": ["Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"]}
|
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome-12 (CMS12) is caused by homozygous or compound heterozygous mutation in the GFPT1 gene (138292) on chromosome 2p13.
Description
Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Clinical Features
Johns et al. (1966) reported 4 sibs, 2 male and 2 female, who developed a proximal myopathy involving the pectoral and pelvic girdles. Onset was in adolescence; 10 years later, they showed a prominent myasthenic reaction and good response to cholinesterase inhibitors. Electromyographic findings were typical of myasthenia gravis. Dobkin and Verity (1978) described 3 sisters with asymptomatic cardiomyopathy and nonprogressive proximal muscle weakness and lordosis that began in childhood. Small type 1 fibers and tubular aggregates in both fiber types were found on muscle biopsy. In addition, myasthenic features were characterized by fatigability with moderate exercise, decremental response to repetitive nerve stimulation, and improved function with anticholinesterase drug therapy.
McQuillen (1966) described limb-girdle myasthenia in a father and his 3 children. Two of the children also had dystrophic changes in the weak muscles. The atrophy was not marked, however, and no oculobulbar involvement was present. EMG studies suggested myasthenia, and there was a favorable response to anticholinesterase therapy.
Sieb et al. (1996) reported a Libyan family in which 5 of 7 sibs had a slowly progressive limb-girdle weakness accentuated by exercise since childhood. Neither ptosis nor ophthalmoplegia was observed. Electrophysiologic studies showed a decremental motor response to repetitive stimulation in affected muscles. Muscle biopsy of 1 patient showed basophilic subsarcolemmal tubular aggregates in type 2 fibers. Ultrastructural examination showed that the tubules were about 6 angstroms in diameter arranged in a hexagonal array. The authors noted that the tubular aggregates may reflect a response to increased calcium.
Furui et al. (1997) reported affected Japanese sisters. Repetitive nerve stimulation resulted in decremental responses, and single-fiber EMG showed increased jitter and blocking. AChR autoantibodies were not present, and neither sister had ocular or bulbar involvement. The neuromuscular junctions appeared morphologically normal.
Rodolico et al. (2002) reported 5 patients with familial limb-girdle myasthenia. All patients had consanguineous parents, indicating autosomal recessive inheritance. Disease onset ranged from 7 to 12 years, and was characterized by proximal muscle weakness and wasting with normal or slightly increased serum creatine kinase. One patient reported muscle cramps and another had easy fatigability. EMG showed a myopathic pattern with low-amplitude and short-duration motor unit potentials. Repetitive nerve stimulation showed a decremental compound motor action potential (CMAP) response. Single fiber EMG showed impaired neuromuscular transmission with increased jitter. Muscle biopsy showed 60- to 80-nm parallel tubular aggregates located predominantly in type 2 muscle fibers. AChE inhibitors resulted in symptom improvement. No patients had ocular or bulbar involvement.
Beeson et al. (2006) differentiated limb-girdle myasthenia with tubular aggregates from a form without tubular aggregates (254300) caused by mutations in the DOK7 gene (610285). Moreover, by contrast with patients harboring DOK7 mutations, patients with tubular aggregates tend to respond well to anticholinesterase medication, suggesting that this phenotype constitutes a separate disorder. One of the patients reported by Slater et al. (2006) had limb-girdle myasthenia with tubular aggregates, while the other 6 without tubular aggregates harbored mutations in DOK7.
Helman et al. (2019) reported 4 patients from 2 unrelated families with congenital myasthenic syndrome-12. The patients presented with proximal muscle weakness and difficulty walking. In one family, both children had neonatal respiratory distress, while in the other family, the children had episodic deteriorations. Muscle biopsies showed ragged-red fibers, and MRIs were consistent with a mitochondrial leukoencephalopathy, with extensive deep cerebral white matter T2 hyperintense signal and selective involvement of the middle blade of the corpus callosum. Nerve conduction studies showed a decremental response to repetitive nerve stimulation, which confirmed the diagnosis of myasthenia.
Clinical Management
Helman et al. (2019) reported that 2 children (family 1) with CMS12 who were treated with pyridostigmine showed significant improvement, with better exercise tolerance and improved ability to run and climb stairs.
Inheritance
Congenital myasthenic syndrome-12 is an autosomal recessive disorder (Senderek et al., 2011).
Mapping
By homozygosity mapping in the consanguineous Libyan family with limb-girdle myasthenia reported by Sieb et al. (1996), Senderek et al. (2011) found linkage to chromosome 2p15-p12 (maximum lod score of 3.24). Analysis of other affected families allowed refinement of the locus to a 5.92-Mb region.
Molecular Genetics
In 13 unrelated families with autosomal recessive CMS12, Senderek et al. (2011) identified 18 different mutations in the GFPT1 gene (see, e.g., 138292.0001-138292.0006). All mutations were in the homozygous or compound heterozygous state in affected individuals. Two of the families had previously been reported by Sieb et al. (1996) and Rodolico et al. (2002), respectively. In vitro expression studies in HEK293 cells indicated that the missense mutations did not always result in significantly decreased enzyme activity, but studies of patient muscle biopsies and cultured myoblasts showed reduced amounts of the GFPT1 protein, suggesting increased turnover or defective translation. In addition, study of 1 patient's muscle sample showed a strongly reduced number of acetylcholine receptors (AChR), and muscle samples from several patients showed decreased protein glycosylation. Senderek et al. (2011) noted that many key proteins at the neuromuscular junction are glycosylated, including subunits of the AChR, and that glycosylation is involved in intracellular signaling, factors that may play a role in the pathogenesis of myasthenia due to GFPT1 mutations.
By genome sequencing in 4 patients from 2 unrelated families segregating CMS12, Helman et al. (2019) identified homozygous missense mutations in the GFPT1 gene (138292.0007-138292.0008).
Animal Model
Senderek et al. (2011) found that Gfpt1 knockdown in zebrafish embryos induced a neuromuscular phenotype and resulted in altered muscle histology and delayed neuromuscular junction maturation. Mutant zebrafish showed curly and shortened tails, as well as defects in motility. Histologic studies showed morphologic abnormalities ranging from wavy fibers to severely damaged fibers that were detached from the vertical myoseptum.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial weakness Eyes \- Ptosis (less common) \- Absence of ophthalmoparesis Neck \- Neck muscle weakness RESPIRATORY \- Respiratory muscle weakness may occur MUSCLE, SOFT TISSUES \- Muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers NEUROLOGIC Peripheral Nervous System \- Delayed motor milestones (in some) \- Proximal muscle weakness due to defect at the neuromuscular junction \- Proximal muscle atrophy \- Distal muscle weakness may also occur \- Easy fatigability \- Muscle cramps \- Gowers sign \- Waddling gait \- Leukoencephalopathy seen on MRI (in some patients) \- Decremental compound motor action potential (CMAP) response to repetitive nerve stimulation seen on EMG \- Increased jitter seen on single fiber EMG IMMUNOLOGY \- Absence of acetylcholine receptor (AChR) autoantibodies LABORATORY ABNORMALITIES \- Mildly increased serum creatine kinase MISCELLANEOUS \- Onset in first decade \- Favorable response to acetylcholinesterase inhibitors \- Distinct disorder from acquired limb-girdle myasthenia ( 159400 ) and congenital limb-girdle myasthenia ( 254300 ) MOLECULAR BASIS \- Caused by mutation in the glutamine:fructose-6-phosphate aminotransferase 1 gene (GFPT1, 138292.0001 ) ▲ 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
|
MYASTHENIC SYNDROME, CONGENITAL, 12
|
c0751882
| 25,891 |
omim
|
https://www.omim.org/entry/610542
| 2019-09-22T16:04:22 |
{"doid": ["0110660"], "mesh": ["D020294"], "omim": ["610542"], "orphanet": ["353327", "590"], "synonyms": ["MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1", "Alternative titles"]}
|
## Clinical Features
Hwang et al. (2003) described a mother and son with a seemingly distinct syndrome of congenital bilateral superior full-thickness V-shaped corneal opacities, cornea guttata (focal accumulations of collagen on the posterior surface of Descemet membrane), and corectopia (updrawn pupils). The phenotype overlapped that of Peters anomaly (see 604229), which is usually a sporadic condition characterized by central corneal opacity and defects in the corneal endothelium, Descemet membrane, and posterior stroma. Glaucoma was not present in the mother or son, nor did they have posterior embryotoxon, iris stromal hypoplasia, or polycoria, all of which are found in Axenfeld/Rieger anomalies (see 601631). Cornea guttata, present in both mother and son, had not been reported in Peters anomaly or Axenfeld/Rieger anomalies. Autosomal dominant inheritance was suggested.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Corneal opacities, bilateral superior \- Cornea guttata \- Corectopia \- Normal lens \- Normal retina \- Normal vitreous MISCELLANEOUS \- One report of mother and son (last curated August 2012) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA
|
c1837970
| 25,892 |
omim
|
https://www.omim.org/entry/608484
| 2019-09-22T16:07:42 |
{"mesh": ["C563921"], "omim": ["608484"], "synonyms": ["Alternative titles", "CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA"]}
|
A number sign (#) is used with this entry because dementia with Lewy bodies (DLB) can be caused by mutation in the alpha-synuclein (SNCA; 163890) or beta-synuclein (SNCB; 602569) genes.
Familial Parkinson disease-1 (PARK1; 168601) is associated with mutation in the SNCA gene.
The epsilon-4 allele of the APOE gene (107741) and the B allele of the CYP2D6 gene (124030), a cytochrome P-450 monooxygenase, have also been implicated in DLB.
A mutation in the prion protein gene (PRNP; see 176640.0017) has been identified in 1 patient with DLB. Some patients with a diagnosis consistent with Lewy body disease or dementia have mutations in the LRRK2 gene (609007), which is associated with Parkinson disease-8 (PARK8; 607060) (Giasson et al., 2006; Ross et al., 2006).
One family with a mutation in the PSEN2 gene (600759.0009), usually associated with Alzheimer disease-4 (AD4; 606889), had clinical and neuropathologic findings consistent with DLB (Piscopo et al., 2008).
Description
Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; 168600). Alzheimer disease (AD; 104300)-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).
Clinical Features
Ishikawa et al. (1997) reported 2 unrelated families with familial autosomal dominant diffuse Lewy body disease. In family A, 4 patients over 3 generations presented with parkinsonism, vertical ocular limitation, progressive dementia, and delusions or visual hallucinations. Two of the patients developed neuroleptic malignant syndrome (NMS). Family S had 3 affected members over 3 generations. One was examined in detail and presented with parkinsonism and progressive dementia and later developed NMS. In a member of family S reported by Ishikawa et al. (1997), Ishikawa et al. (2005) identified a mutation in the PSEN1 gene (104311.0032). No mutations were identified in the SNCA gene. The phenotype was an overlap between DLB and Alzheimer disease with spastic paraparesis (607822).
Denson et al. (1997) reported 10 individuals with Lewy body disease in 3 successive generations of 2 closely intermarried families. The phenotype was variable: 4 patients displayed parkinsonian features only, 3 had dementia only, and 3 had combined parkinsonism and dementia. Mean age of onset was 62 years. Linkage studies were inconclusive.
Wakabayashi et al. (1998) described a Japanese family with parkinsonism and later-onset dementia. The proband developed parkinsonism at the age of 61 years, followed by dementia starting when she was 67. Her uncle, who was also her husband, died at the age of 78 years after 7- and 5-year histories of parkinsonism and dementia, respectively. Her 2 sons developed similar parkinsonism at the ages of 39 and 28 years and also suffered later-onset dementia. The apolipoprotein E genotype of the proband, her uncle, and 1 of their sons was E3/4 and that of the other son was E4/4. The authors concluded that this represented autosomal dominant diffuse Lewy body disease.
Ohara et al. (1999) presented a familial case of dementia with Lewy bodies in 3 sibs, born of first-cousin parents, who demonstrated progressive dementia with a progressive language disorder characterized by dysarthria, paraphasia, and difficulty in finding words. The 2 brothers presented with parkinsonism and fluctuating cognition. The sister and one of the brothers also had visual hallucinations. No mutations in the alpha-synuclein gene (SNCA; 163890), the parkin gene (PARK2; 602544), or the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1; 191342) were found.
Graeber and Muller (2003) provided a review of DLB, which they stated is the second most common degenerative dementia after Alzheimer disease. Clinically, DLB differs from Alzheimer disease in that disease symptoms are prone to fluctuate and patients often suffer from visual hallucinations, though short-term memory is relatively preserved. As many as 70% of patients have parkinsonism and up to 50% are sensitive to the extrapyramidal side effects of neuroleptic drugs. Graeber and Muller (2003) suggested that DLB is a complex disorder with both genetic and environmental factors involved in the pathogenesis, as is the case for many common disorders.
Ohtake et al. (2004) reported a patient with DLB and a mutation in the SNCB gene (602569.0002). He presented at age 64 years with a 3-year history of mild dementia and deterioration in his handwriting. He had frontal lobe involvement manifesting as executive and language dysfunction. He later developed depression, motor apraxia, parkinsonism, and audio and visual hallucinations. Neuropathologic examination showed extensive Lewy bodies in the hippocampus, amygdala, and substantia nigra. Several family members were affected or possibly affected in an autosomal dominant pattern of inheritance.
### Pathologic Findings
Khachaturian (1985) performed an autopsy series of elderly individuals with dementia and found that the second most common pathology after the senile plaques and neurofibrillary tangles of Alzheimer disease was that of Lewy bodies found in subcortical and cortical regions. Patients with such 'Lewy body dementia' also have a sufficient number of hippocampal and neocortical senile plaques to meet the diagnostic criteria for Alzheimer disease. Hansen et al. (1990) referred to such patients as having the 'Lewy body variant of Alzheimer disease.' The term 'diffuse Lewy body disease' is reserved for patients with brainstem and cortical Lewy bodies but an insufficient number of senile plaques to fulfill the diagnostic criteria for Alzheimer disease.
Wakabayashi et al. (1998) reported that pathologic examination of their 2 patients showed marked neuronal loss with Lewy bodies in the brainstem, pigmented nuclei, and numerous cortical Lewy bodies and ubiquitin-positive hippocampal neurites. Brain examination of 1 patient studied by Ishikawa et al. (1997) showed neuronal loss with gliosis and many Lewy bodies in the cerebral cortex and brainstem. One affected individual from the kindred reported by Denson et al. (1997) showed neuronal loss and gliosis as well as many Lewy bodies throughout the cerebral cortex and brainstem. Neurofibrillary tangles and neuritic plaques were present, but rare. Neuropathology of the proband reported by Ohara et al. (1999) demonstrated numerous Lewy bodies in the cerebral cortex and brain stem, with no neurofibrillary tangles or neuritic plaques.
Obi et al. (2008) reported the neuropathologic findings of a Japanese patient with PD and later-onset dementia who was heterozygous for a duplication of the SNCA gene (163890.0005) (Nishioka et al., 2006). The patient presented with classic levodopa-responsive parkinsonism at age 47. Loss of memory, visual hallucinations, and progressive cognitive decline began at age 60. Brain MRI showed medial temporal lobe atrophy on both sides, and single photon emission computed tomography (SPECT) showed hypoperfusion of the frontotemporal and occipital lobes. He later became bedridden and died of pneumonia at age 67. Postmortem examination showed mild frontal lobe atrophy and severe depigmentation of the substantia nigra and locus ceruleus. Severe neuronal loss was noted in the substantia nigra, locus ceruleus, dorsal motor nucleus of the vagus nerve, the amygdala, and the CA2/3 of the hippocampus. SNCA-immunostaining revealed multiple Lewy bodies in the cerebral cortex, hippocampus, and brainstem. The Lewy body-related pathology was graded as diffuse neocortical type based on the pathologic classification of dementia with Lewy bodies.
### Diffuse Lewy Body Disease with Gaze Palsy
Lewis and Gawel (1990) and Fearnley et al. (1991) each presented a case report in which a patient (71 and 76 years old) with dementia and parkinsonism also presented with horizontal and vertical supranuclear gaze palsy, prompting an initial diagnosis of progressive supranuclear palsy (PSP; 601104). Pathologic diagnosis in both cases revealed diffuse Lewy body disease with Lewy bodies in areas believed to be associated with gaze control.
De Bruin et al. (1992) reported a 67-year-old man with a family history of parkinsonism who presented with supranuclear gaze palsy and later developed parkinsonism and mental impairment. A diagnosis of PSP was made initially, but postmortem pathologic examination revealed diffuse Lewy body disease with multiple Lewy bodies in the neocortex and brainstem, as well as lesser numbers of neuritic plaques and neurofibrillary tangles.
Brett et al. (2002) reported 2 sibs with onset in their 60s of a disorder characterized by parkinsonism, dementia, and visual hallucinations, which progressed to incapacity. One patient exhibited vertical supranuclear gaze palsy, and the other patient could not be tested. Pathologic examination of both cases showed diffuse Lewy body disease, with changes in the posterior commissure, the rostral interstitial nucleus of the medial longitudinal fasciculus, and the interstitial nucleus of Cajal, areas that subserve vertical gaze.
Diagnosis
The International Consortium on Dementia with Lewy bodies in 1995 established guidelines for the clinical and pathologic diagnosis of DLB. Mental impairment leading to dementia is the central core feature, with fluctuation in cognitive function, visual hallucinations, and motor features of parkinsonism being other key symptoms. Brainstem or cortical Lewy bodies are the only essential pathologic features, although other pathologic changes may be present as well (McKeith et al., 1996). The guidelines were updated in 2005 (McKeith et al., 2005) to include sleep disturbances, neuroleptic sensitivity, reduced striatal dopamine transporter activity on functional neuroimaging, and pathologic grading.
Pathogenesis
In Lewy body diseases, including Parkinson disease with or without dementia, dementia with Lewy bodies, and Alzheimer disease with Lewy body copathology, alpha-synuclein aggregates in neurons as Lewy bodies and Lewy neurites. By contrast, in multiple system atrophy (146500) alpha-synuclein accumulates mainly in oligodendrocytes as glial cytoplasmic inclusions (GCIs). Peng et al. (2018) reported that pathologic alpha-synuclein in GCIs and Lewy bodies is conformationally and biologically distinct. GCI-alpha-synuclein forms structures that are more compact and is about 1,000-fold more potent than Lewy body alpha-synuclein in seeding alpha-synuclein aggregation, consistent with the highly aggressive nature of multiple system atrophy. GCI-alpha-synuclein and Lewy body alpha-synuclein show no cell-type preference in seeding alpha-synuclein pathology, which raises the question of why they demonstrate different cell-type distributions in Lewy body disease versus multiple system atrophy. Peng et al. (2018) found that oligodendrocytes, but not neurons, transform misfolded alpha-synuclein into a GCI-like strain, highlighting the fact that distinct alpha-synuclein strains are generated by different intracellular milieus. Moreover, GCI-alpha-synuclein maintains its high seeding activity when propagated in neurons. Thus, alpha-synuclein strains are determined by both misfolded seeds and intracellular environments.
Molecular Genetics
### SNCA Gene
Zarranz et al. (2004) reported a Spanish family with autosomal dominant parkinsonism and dementia with Lewy bodies, diagnosed using strict criteria. Neuropathologic examination showed diffuse distribution of Lewy bodies in cortical and subcortical areas. Molecular analysis identified a mutation in the SNCA gene (163890.0004) that cosegregated with the disease phenotype. Zarranz et al. (2004) noted that because there is clinical and pathologic overlap between PD and DLB, the distinction and/or relationship between the 2 disorders is difficult to discern.
In affected members of 1 of the Japanese families reported by Ishikawa et al. (1997) with early-onset parkinsonism and dementia, Ikeuchi et al. (2008) identified a duplication of the SNCA gene (163890.0005). Three patients were heterozygous for the duplication, and 1 was homozygous for the duplication, having 4 copies of the SNCA gene. The entire duplication segment spanned 5 Mb and included at least 10 neighboring genes. The homozygous patient showed earlier onset and earlier death, with more severe cognitive impairment.
Uchiyama et al. (2008) reported a Japanese mother and son with duplication of the SNCA gene associated with variable features of parkinsonism and dementia. The son had prominent parkinsonism in his late forties, followed by fluctuating cognitive decline, visual hallucinations, and deficits in verbal fluency a few years later. The mother presented later at age 72 with memory disturbances and fluctuating cognitive deficits. She then developed mild parkinsonism and visual hallucinations. PET studies showed that both patients had diffuse hypometabolism in the brain that extended to the occipital visual cortex in the mother. Uchiyama et al. (2008) noted that the diagnoses in the son and mother were compatible with PD dementia and Lewy body dementia, respectively.
### SNCB Gene
In 2 unrelated patients with dementia with Lewy bodies, 1 of whom had a family history of the disorder, Ohtake et al. (2004) identified 2 different heterozygous mutations in the SNCB gene (602569.0001; 602569.0002). Ohtake et al. (2004) postulated that an alteration in SNCB may impair its normal inhibitory action on the formation of toxic alpha-synuclein fibrils, thereby indirectly contributing to disease pathogenesis.
### PRNP Gene
In a 55-year-old man with slowly progressive dementia, dysarthria, gait disturbance, and rigidity, but no myoclonus or EEG abnormalities, Koide et al. (2002) identified a heterozygous met232-to-arg mutation in the PRNP gene (M232R; 176640.0017). The patient was given a preliminary diagnosis of Creutzfeldt-Jakob disease (CJD; 123400). However, postmortem brain examination showed many Lewy bodies in the substantia nigra and cerebral cortices as well as lack of prion protein immunoreactivity, and final diagnosis was dementia with Lewy bodies.
### Gene Associations
Galasko et al. (1994) analyzed the frequency of the apolipoprotein epsilon-4 allele (APOE4) in 74 subjects with Alzheimer disease, 40 patients with the Lewy body variant of Alzheimer disease, and 8 with diffuse Lewy body disease. The APOE4 allele frequency was 39.6% in pure Alzheimer disease, 29% in the Lewy body variant of Alzheimer disease, and only 6.25% in the 8 patients with diffuse Lewy body disease. Galasko et al. (1994) argued that this further supported their conclusion that dementia in the Lewy body variant is caused by the Alzheimer disease lesions, whereas the cause of the dementia in diffuse Lewy body disease is distinct.
Saitoh et al. (1995) analyzed the allele frequency of debrisoquine 4-hydroxylase (CYP2D6; 124030.0001) in an autopsy series consisting of all Caucasian samples. Forty-four of these had Lewy body dementia, which they defined as meeting neuropathologic criteria for Alzheimer disease, having at least 1 Lewy body, and having a primary clinical manifestation of dementia rather than Parkinson disease. In addition, there were 83 controls who had pure Alzheimer disease and 37 controls who had dementia without Alzheimer disease. The CYP2D6B allele frequency in Lewy body dementia was 0.307, considerably higher than the 0.163 allele frequency in pure Alzheimer disease and the 0.122 frequency in non-Alzheimer disease dementia. Saitoh et al. (1995) suggested that the CYP2D6B allele is a risk factor for Lewy body disease, and that this may have therapeutic implications.
Beyer et al. (2008) found different disease-specific expression of isoforms of the SNCA, PARK2, and synphilin-1 (SNCAIP; 603779) genes in frontal lobe cortices from patients with 4 diseases: pure Lewy body dementia, so-called 'common' Lewy body disease, in which amyloid plaques can also be seen, Parkinson disease, and Alzheimer disease. The data indicated that each disease can be characterized by its own molecular mechanisms and that different molecular mechanisms can lead to the development of similar neuropathologic changes.
Goker-Alpan et al. (2006) identified heterozygous mutations in the glucocerebrosidase gene (GBA; 606463) in 8 (23%) of 35 patients with dementia with Lewy bodies. The authors postulated that a mutant GBA enzyme may take on a different and unexpected role that may contribute to the development of synucleinopathies. In 2 (3.5%) of 57 European patients with Lewy body dementia, Mata et al. (2008) identified heterozygous mutations in the GBA gene: 1 patient had the L444P mutation (606463.0001), and the other had the N370S mutation (606463.0003). The authors estimated that the population-attributable risk for GBA mutations in Lewy body disorders was only about 3% in patients of European ancestry.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Parkinsonism \- Visual hallucinations \- Delusions \- Progressive dementia \- Fluctuations in consciousness \- Sensitivity to neuroleptic medication \- Diffuse Lewy bodies throughout the brain (cortical and subcortical regions) MISCELLANEOUS \- Onset in the sixth or seventh decades \- Phenotypic overlap with Parkinson disease \- Allelic disorder to Parkinson disease-1 (PARK1, 168601 ) MOLECULAR BASIS \- Caused by mutation in the alpha-synuclein gene (SNCA, 163890.0004 ) \- Caused by mutation in the beta-synuclein gene (SNCB, 602569.0001 ) ▲ 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
|
DEMENTIA, LEWY BODY
|
c1851957
| 25,893 |
omim
|
https://www.omim.org/entry/127750
| 2019-09-22T16:42:03 |
{"doid": ["12217"], "mesh": ["C565077"], "omim": ["127750"], "icd-9": ["331.82"], "icd-10": ["G31.83"], "synonyms": ["Alternative titles", "LEWY BODY DEMENTIA", "DIFFUSE LEWY BODY DISEASE"]}
|
A number sign (#) is used with this entry because of evidence that multiple synostoses syndrome-3 (SYNS3) is caused by heterozygous mutation in the FGF9 gene (600921) on chromosome 13q12.
For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).
Clinical Features
Wu et al. (2009) described 12 affected individuals from a 5-generation Chinese family segregating autosomal dominant multiple synostoses syndrome, with fusions of proximal interphalangeal, carpal-tarsal, and humeroradial joints. Hearing, stature, and intelligence were normal in all affected individuals. Only mild semidislocation or cubital valgus at elbow joints or limitation of finger joint flexion was found in 4 patients aged 11 years or below, suggesting that the phenotype is age dependent.
Rodriguez-Zabala et al. (2017) reported an affected Spanish father and son. The son was noted to have premature closure of the sagittal suture at age 2 months, and examination showed dolichocephaly, mild proptosis, and normal palate. At age 5 he exhibited broad thumbs and halluces, but did not show any clinically relevant joint limitations or osseous fusions. His father had been investigated in childhood for premature closure of cranial sutures, likely sagittal based on cranial shape, and also had broad thumbs and cleft palate. Examination revealed normal stature, dolichocephaly, proptosis, radially deviated broad thumbs with congenital fixed contractures of the interphalangeal joints, cutaneous syndactyly of toes, and broad medially deviated halluces. He also had joint movement limitation of the carpal, tarsal, and interphalangeal joints of the toes as well as vertebral lumbar joints, which he stated was progressively worsening. X-rays revealed osseous fusion of the affected joints.
Mapping
Wu et al. (2009) performed linkage analysis in a 5-generation Chinese family segregating autosomal dominant multiple synostoses syndrome, but found no linkage to known loci on chromosomes 17q22 and 20q11.2. A genomewide screen identified a single locus on chromosome 13q11-q12 that cosegregated with the disease (maximum 2-point lod score of 3.7 at D12S1236). Fine mapping and haplotype analysis narrowed the critical interval to 8.6 Mb between D13S175 and D13S221, a region containing 22 candidate genes.
Molecular Genetics
In a 5-generation Chinese family with autosomal dominant multiple synostoses syndrome mapping to chromosome 13q11-q12, Wu et al. (2009) identified a heterozygous missense mutation in the candidate FGF9 gene (S99N; 600921.0001) that segregated with disease and was not found in 250 unrelated ethnically matched controls.
In a Spanish father and son with multiple synostoses syndrome, Rodriguez-Zabala et al. (2017) analyzed a skeletal dysplasia-targeted gene panel and identified heterozygosity for a missense mutation in the FGF9 gene (R62G; 600921.0002) that segregated with disease in the family and was not found in 150 Spanish controls or in the gnomAD database. The mutation appeared to have arisen de novo in the father, as it was not detected in the biologically confirmed unaffected paternal grandparents.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Dolichocephaly (in some patients) Eyes \- Proptosis (in some patients) Mouth \- Cleft palate (in 1 patient) SKELETAL Skull \- Sagittal suture fusion (in some patients) Spine \- Fusion of lumbar joints (L2-3 and L4-5, in some patients) Limbs \- Humeroradial synostoses \- Semidislocation of elbow joint \- Cubitus valgus Hands \- Fusion of the interphalangeal joints \- Fusion of the first metacarpal and trapezium \- Limitation of finger joint flexion \- Limitation of carpal and interphalangeal joint movement, progressive \- Broad thumbs (in some patients) \- Radially deviated thumbs (in some patients) Feet \- Fusion of the first metatarsal, cuneiform, and navicular \- Fusion of interphalangeal joints \- Limitation of tarsal and interphalangeal joint movement, progressive \- Broad halluces (in some patients) \- Medially deviated halluces (in some patients) \- Cutaneous syndactyly of toes (in some patients) MOLECULAR BASIS \- Caused by mutation in the fibroblast growth factor 9 gene (FGF9, 600921.0001 ) ▲ 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
|
MULTIPLE SYNOSTOSES SYNDROME 3
|
c0175700
| 25,894 |
omim
|
https://www.omim.org/entry/612961
| 2019-09-22T16:00:10 |
{"doid": ["0050794"], "omim": ["612961"], "orphanet": ["3237"]}
|
Birdshot chorioretinopathy (HLA-A29 Uveitis)
Other namesMultiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk, Vitiliginous choroiditis
Characteristic hypo-pigmentation in Birdshot Chorioretinopathy
SpecialtyOphthalmology
Birdshot chorioretinopathy now commonly named "birdshot uveitis" or "HLA-A29 uveitis"[1] is a rare form of bilateral posterior uveitis affecting both eyes. It causes severe, progressive inflammation of both the choroid and retina.[2][3][4]
Affected individuals are almost exclusively Caucasian and usually diagnosed in the fourth to sixth decade of their lives.[5]
## Contents
* 1 Symptoms and signs
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Symptoms and signs[edit]
Symptoms of this disorder include floaters, blurred vision, photopsia (flashing lights in eyes), loss of color vision and nyctalopia. In an eye examination, light-colored spots on the retina are seen. Complete loss of visual acuity may happen[citation needed]The name of the condition comes from the small light-colored fundus spots on the retina, scattered in a pattern like birdshot from a shotgun, but these spots might not be present in early stages.[citation needed]
## Pathophysiology[edit]
Birdshot chorioretinopathy is a rare form of posterior uveitis and accounts for 1-3% of uveitis cases in general. Birdshot chorioretinopathy is thought to be an autoimmune disease. The disease has strong association with the Human leukocyte antigen haplotype (HLA)-A29, which is the strongest association between a disease and HLA class I documented (>99% of patients are HLA-A29 positive by molecular testing and HLA-A29-negative cases are controversial[1]). This indicates a role for T-lymphocytes in the pathogenesis. Birdshot chorioretinopathy is associated with IL-17, a hallmark cytokine of TH17 cells that play an important role in autoimmunity.[6][7] The disease affects typically middle-aged or elderly caucasians. HLA-A29 is less prevalent in Asia and no birdshot chorioretinopathy cases have been reported in Asia. When birdshot chorioretinopathy is suspected, a person is usually tested to determine if they are HLA-A29 positive. Although previously HLA-A29 testing was not considered necessary for definitive diagnosis, because HLA-A29 is also common in the general healthy population (7%). An increasing number of specialists consider the presence of HLA-A29 critical for diagnosis.[1] Additional (genetic or environmental) or unknown factors may be associated with HLA-A29 in the pathogenesis.
In 2014, Kuiper et al. conducted a genome-wide association study in birdshot chorioretinopathy and studied the entire genome of Dutch, Spanish and English patients. This large genetic study ascertained HLA-A29:02 as the primary risk factor and identified the endoplasmic reticulum aminopeptidase (ERAP) 2 gene strongly associated with birdshot chorioretinopathy.[8] Genetic variants near ERAP2 on chromosome 5 resulted in high mRNA and protein expression of this aminopeptidase in BSCR patients. ERAP2 is an aminopeptidase that, together with the closely related ERAP1, trims peptides in the endoplasmic reticulum and loads these peptides on HLA molecules for presentation to T cells of the immune system. ERAP-HLA associations have also been reported in Ankylosing spondylitis and Behcet's disease, suggesting shared pathogenic pathways among these diseases. The combined Birdshot risk polymorphisms at 5q15 linked to ERAP1 and ERAP2 genes (T-rs10044354-C-rs2287987) are only observed in HLA-A29-positive individuals in populations in which BU is “endemic”, explaining why BU is reported merely in populations of Western European Ancestry (Spain, France, The Netherlands, Great Britain, but also non-european countries such as Puerto Rico). [9]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (July 2017)
## Treatment[edit]
Birdshot chorioretinopathy may show resistance to treatment. Immunosuppressant therapy along with oral corticosteroid has been somewhat effective in slowing down the progressive inflammation associated with the disorder, preserving visual integrity as much as possible. Long-term use of such medications must be closely monitored, however, due to the discomforting and potentially debilitating and life-threatening side-effects.[10][11]
Immunosuppressive drugs such as the therapeutic monoclonal antibody daclizumab, ciclosporin, methotrexate and Adalimumab, sold under the trade name Humira, have proven to be effective treatment options for birdshot chorioretinopathy. Substantial reduction and even stabilization of both vitreous inflammation and retinal vasculitis have been evident via electroretinography, during daclizumab (IL-2 receptor blocker) therapy. This is also supported by the observation of elevated levels of IL-2 in the eyes of patients.[6] Loss of visual acuity unrelated to the inflammation caused by the disorder, however, often remains unchanged despite usage of the drug. This is reflected by the lack of difference in visual acuity and the vision-related quality of life among various treatment categories in birdshot patients.[12] Contraindications and adverse side-effects are always a factor, as well.[13]
A corticosteroid implant surgically placed within the eye can be used for patients who are not able to achieve remission on or tolerate immunodulatory therapy, or in cases where this option presents less of a burden on life than long-term medical therapy.
## References[edit]
1. ^ a b c Herbort CP et al. (2017). "Why birdshot retinochoroiditis should rather be called 'HLA-A29 uveitis'?". Br J Ophthalmol. 0 (7): 2016–309764. doi:10.1136/bjophthalmol-2016-309764. PMC 5530806. PMID 28314830.
2. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Birdshot chorioretinopathy". www.orpha.net. Retrieved 2017-07-02.
3. ^ "Birdshot chorioretinopathy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-02.
4. ^ "Birdshot Retinopathy: Background, Pathophysiology, Epidemiology". 2017-05-02. Cite journal requires `|journal=` (help)
5. ^ Cassoux N, Lehoan GP (2000). "Birdshot retinochoroidopathy". Ann Med Interne. 151 (Suppl. 1): 1s45–1s47. PMID 10896989.
6. ^ a b Kuiper JJW, Mutis T, de Jager W, de Groot-Mijnes JD, Rothova A (2011). "Intraocular interleukin-17 and proinflammatory cytokines in HLA-A29-associated birdshot chorioretinopathy". Am J Ophthalmol. 152 (2): 177–182. doi:10.1016/j.ajo.2011.01.031. PMID 21570674.
7. ^ Kuiper JJW, Emmelot ME, Rothova A, Mutis T (2013). "Interleukin-17 production and T helper 17 cells in peripheral blood mononuclear cells in response to ocular lysate in patients with birdshot chorioretinopathy". Mol Vis. 19: 2606–14. PMC 3874049. PMID 24379648.
8. ^ Kuiper JJW, van Setten J, Ripke S, Van't Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, de Kovel CG, Ten Dam-van Loon N, den Hollander AI, Huis In Het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, de Bakker PI, Mutis T, Koeleman BP (2014). "A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy". Hum Mol Genet. 23 (22): 6081–6087. doi:10.1093/hmg/ddu307. PMC 4204766. PMID 24957906.
9. ^ Kuiper JJW, Venema WJ (2020). "HLA-A29 and Birdshot Uveitis: Further Down the Rabbit Hole". Front. Immunol. 11: 599558. doi:10.3389/fimmu.2020.599558. PMC 7687429. PMID 33262772.
10. ^ Kiss S, Ahmed M, Letko E, Foster CS (2005). "Long-term follow-up of patients with birdshot retinochoroidopathy treated with corticosteroid-sparing systemic immunomodulatory therapy". Ophthalmology. 112 (6): 1066–1071. doi:10.1016/j.ophtha.2004.12.036. PMID 15936442.
11. ^ Becker MD, Wertheim MS, Smith JR, Rosenbaum JT (2005). "Long-term follow-up of patients with birdshot retinochoroidopathy treated with systemic immunosuppressants". Ocul Immuno Inflamm. 13 (4): 289–293. doi:10.1080/09273940490912407. PMID 16159719. S2CID 1554209.
12. ^ Kuiper JJW, Missotten T, Baarsma SG, Rothova A (2013). "Vision-related quality of life in patients with birdshot chorioretinopathy". Acta Ophthalmol. 91 (1): 177–182. doi:10.1111/aos.12054. PMID 23289541. S2CID 6475153.
13. ^ Sobrin L, Huang JJ, Christen W, Kafkala C, Choopong P, Foster CS (2008). "Daclizumab for treatment of birdshot chorioretinopathy". Arch Ophthalmol. 126 (2): 186–191. doi:10.1001/archophthalmol.2007.49. PMID 18268208.
## External links[edit]
Classification
D
* ICD-10: H30.9
* ICD-9-CM: 363.20
* OMIM: 605808
* MeSH: C537630 C537630, C537630
* DiseasesDB: 32404
External resources
* Orphanet: 179
* v
* t
* e
* Diseases of the human eye
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Birdshot chorioretinopathy
|
c1853959
| 25,895 |
wikipedia
|
https://en.wikipedia.org/wiki/Birdshot_chorioretinopathy
| 2021-01-18T19:06:11 |
{"gard": ["5926"], "mesh": ["C537630"], "umls": ["C1853959"], "icd-9": ["363.20"], "orphanet": ["179"], "wikidata": ["Q4916140"]}
|
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
## Epidemiology
The total birth prevalence in Europe has been estimated at 1/500,000. Over 150 cases have been described to date.
## Clinical description
Newborns often have a low birth weight with a small head and body size. Facial appearance is characteristic with narrow or triangular shaped head and high or sloping forehead, flat supraorbital ridge, scanty lateral eyebrows, short palpebral fissures, blepharophimosis, ptosis, abnormally modeled ears, broad and flat nasal bridge, micrognathia and unusual configuration of the mouth. Sumucous cleft palate is common. Other findings include cutaneous ezema, high-pitched or hoarse voice, hypospadias and cryptorchidism. Skeletal abnormalities in DS include sacral dimple, and clinodactyly (5th fingers), with cutaneous syndactyly of toes or fingers. Intellectual deficit is mostly mild to moderate. Furthermore a variety of ocular and dental abnormalities, such as hyperopia, cataracts, tapetoretinal degeneration, strabismus and taurodontia, anodontia/hypodontia or hyperdontia have been reported. Behavioral characteristics may include hyperactivity with short attention span, impulsivity and shyness. The spectrum of manifestations of Dubowitz syndrome may also comprise: hematological (aplastic anemia) and congenital heart defects, frequent infections, chromosomal instability and developement of malignancies (acute lymphoblastic leukemia or neuroblastoma; see these terms).
## Etiology
The etiology of Dubowitz syndrome has not been evidently elucidated. Two causal genes have been put forward in separate isolated cases and include NSUN2 and LIG4. However due to the large phenotypic overlap of Dubowitz syndrome with other clinical entities, there remains uncertainty on the etiology.
## Diagnostic methods
Diagnosis is based on the multiple clinical manifestations and is commonly made in early childhood.
## Differential diagnosis
Differential diagnosis includes fetal alcohol syndrome, Bloom syndrome, LIG4 syndrome and Fanconi anemia (see these terms).
## Antenatal diagnosis
Prenatal growth retardation may be observed on ultrasound but does not lead to a reliable prenatal diagnosis.
## Genetic counseling
In some families, Dubowitz syndrome appears to have an autosomal recessive transmission. However, it has been suggested recently that Dubowitz syndrome is a microdeletion/microduplication syndrome rather than an autosomal disorder.
## Management and treatment
Growth, dental speech, behavioral and intellectual development and a general health status check should be monitored regularly and treated appropriately. Eczema and recurrent infections require conservative treatment. Surgical intervention might be necessary for certain cardiovascular, urogenital, craniofacial or limb anomalies. Surveillance of hematological and malignant disorders is recommended.
## Prognosis
The prognosis is very variable depending on the severity and types of congenital anomalies present and the long-term outcome still remains elusive, as no data is available after puberty.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Dubowitz syndrome
|
c0175691
| 25,896 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=235
| 2021-01-23T17:49:25 |
{"gard": ["6290"], "mesh": ["C535718"], "omim": ["223370"], "umls": ["C0175691"], "icd-10": ["Q87.1"]}
|
Wieacker syndrome
Other namesIntellectual disability-developmental delay-contractures syndrome
This condition is inherited in an X-linked recessive manner.
Wieacker Syndrome or Wieacker-Wolff syndrome is a rare, severely disabling, genetic disorder. It is an X-linked recessive disorder and thus affects mostly males.
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Presentation[edit]
The condition is characterized by contracture of the lower joints, muscle atrophy, impaired facial muscles, mental retardation, and syndromic facies.[1][2] Heterozygous females may show mild signs of the disease.
## Genetics[edit]
Wieacker syndrome is caused by a mutation in ZC4H2 on the X chromosome (Xq13-q21).[2]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (December 2017)
## Treatment[edit]
Treatment is supportive in nature. There are no effective disease-modifying therapies.[2]
## Epidemiology[edit]
Fewer than 30 cases have been identified.[3]
## References[edit]
1. ^ "OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". www.omim.org.
2. ^ a b c "Wieacker Syndrome - NORD (National Organization for Rare Disorders)".
3. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Intellectual disability developmental delay contractures syndrome". www.orpha.net.
## External links[edit]
Classification
D
* OMIM: 314580
* MeSH: C536703
External resources
* Orphanet: 3454
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Wieacker syndrome
|
c0796200
| 25,897 |
wikipedia
|
https://en.wikipedia.org/wiki/Wieacker_syndrome
| 2021-01-18T18:41:05 |
{"mesh": ["C536703"], "umls": ["C0796200"], "orphanet": ["3454"], "wikidata": ["Q48989140"]}
|
A number sign (#) is used with this entry because of evidence that ovarian dysgenesis-2 (ODG2) is caused by mutation in the BMP15 gene (300247) on chromosome Xp11.
Mutation in the BMP15 gene can also cause premature ovarian failure-4 (POF4).
For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
For a phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Description
Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).
Clinical Features
Di Pasquale et al. (2004) reported 2 sisters with hypergonadotropic ovarian failure due to ovarian dysgenesis. The proband presented at age 23 with primary amenorrhea and modest hirsutism. She had received a diagnosis of pubertal delay at 15 years; at age 17 years she underwent appendectomy, and laparoscopic investigation allowed the visualization of streak ovaries with a small terminal crest and underdevelopment of the uterus. Her younger sister was affected with a similar menstrual defect, reporting a single episode of spotting at age 13 years. Both patients had hypoplastic gonads at ultrasound and a 46,XX karyotype. The parents were nonconsanguineous, and family history was negative for reproductive, endocrine, or mental disorders in 2 previous generations.
Molecular Genetics
In 2 sisters with hypergonadotropic ovarian failure due to ovarian dysgenesis, Di Pasquale et al. (2004) identified a heterozygous transition in exon 2 of the BMP15 gene resulting in a tyr235-to-cys amino acid substitution (300247.0001). The father was a hemizygous carrier of the mutation, whereas the mother carried only wildtype BMP15.
The phenotype of the patients studied by Di Pasquale et al. (2004) resembled that observed in patients with complete resistance to follicle-stimulating hormone (see 233300). Di Pasquale et al. (2004) excluded mutations in the FSHR gene (136435) in the proband. The mutation in the BMP15 gene found in the patients (300247.0001) was associated with prepubertal onset of hypergonadotropic ovarian failure characterized by primary amenorrhea and ovarian hypoplasia. These manifestations reflect the phenotype of sheep with homozygous mutations, rather than that of heterozygous ewes (Galloway et al., 2000). The possibility that the affected sisters carried mutations in other genes involved in ovarian function may explain such a discrepancy. Nevertheless, mutations in the GDF9 (601918) and FSHR genes were not detected, possibly suggesting that the different modes of inheritance in humans and sheep may be a result of species diversity or the peculiar nature and location of the human mutation.
Dixit et al. (2006) sequenced the BMP15 gene in 133 Indian women with gonadotropin-confirmed premature ovarian failure (POF), 60 with primary amenorrhea, 9 with secondary amenorrhea, and 197 controls and identified 11 missense mutations (see, e.g., 300247.0002-300247.0004) in 19 patients with POF or primary amenorrhea but not in controls. Three frequent variants were chosen for haplotyping, and the so-called GGC haplotype was found to be significantly associated with ovarian failure (p = 0.0075). Dixit et al. (2006) concluded that the BMP15 gene is highly associated with the etiology of ovarian failure.
Rossetti et al. (2009) screened 300 unrelated Caucasian women with idiopathic overt primary ovarian insufficiency (POI), including 45 women with primary amenorrhea and 255 with secondary amenorrhea. The authors identified 5 heterozygous BMP15 missense variants (see, e.g., 300247.0005 and 300247.0006) in 29 women that were not found in 216 controls. They observed no clear-cut genotype/phenotype correlations with the BMP15 mutations, noting that the most deleterious mutation they studied was found in women with onset of POI at 20 and 30 years of age, whereas POI occurred before 20 years of age in carriers of 2 less deleterious mutations. Rossetti et al. (2009) suggested that BMP15 variations may predispose to POI and contribute in association with other alterations to generate the ovarian defect.
Di Pasquale et al. (2006) sequenced the BMP15 gene in 166 unrelated Caucasian women with idiopathic POF and identified 2 novel missense mutations in 6 patients, all of whom had secondary amenorrhea: an R68W substitution (300247.0005) was detected in 1 patient, and an A180T substitution (300247.0006) in 5 patients. Neither variant was found in 211 controls. The authors stated that analysis of 14 African American, 6 Asian, and 4 Hispanic women with POF revealed 2 additional missense variants. Including their previously reported proband (Di Pasquale et al., 2004), Di Pasquale et al. (2006) calculated a significant association between heterozygous BMP15 variants and the POF phenotype (7/166 patients: 4.2%; p less than 0.003 vs controls).
INHERITANCE \- X-linked GENITOURINARY Internal Genitalia (Female) \- Delayed puberty \- Primary amenorrhea \- Secondary amenorrhea \- Small or streak ovaries \- Ovarian failure, premature \- Absent follicles \- Hypoplastic uterus SKIN, NAILS, & HAIR Hair \- Mild hirsutism \- Absent pubic and axillary hair ENDOCRINE FEATURES \- Delayed puberty \- Premature ovarian failure \- Low estradiol (E2) levels \- Elevated follicle-stimulating hormone (FSH) levels \- Elevated luteinizing hormone (LH) levels MOLECULAR BASIS \- Caused by mutation in the bone morphogenetic protein 15 gene (BMP15, 300247.0001 ) ▲ 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
|
OVARIAN DYSGENESIS 2
|
c0685837
| 25,898 |
omim
|
https://www.omim.org/entry/300510
| 2019-09-22T16:20:09 |
{"doid": ["0080494"], "mesh": ["D023961"], "omim": ["300510"], "orphanet": ["243"], "synonyms": ["Alternative titles", "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED", "OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS"]}
|
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.
After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved.
Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature.
People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair.
Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.
## Frequency
Netherton syndrome is estimated to affect 1 in 200,000 newborns.
## Causes
Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function.
Mutations in the SPINK5 gene result in a LEKT1 protein that is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active and break down too many proteins in the stratum corneum. As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction that leads to allergies, asthma, and eczema.
### Learn more about the gene associated with Netherton syndrome
* SPINK5
## 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
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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
|
Netherton syndrome
|
c0265962
| 25,899 |
medlineplus
|
https://medlineplus.gov/genetics/condition/netherton-syndrome/
| 2021-01-27T08:25:49 |
{"gard": ["7182"], "mesh": ["D056770"], "omim": ["256500"], "synonyms": []}
|
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