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Lajarrige et al. (1989) described a family in which the grandfather died in the course of surgical intervention for perforated Meckel diverticulum. The father of the proband was operated on at the age of 14 years for perforation of a Meckel diverticulum that contained heterotrophic gastric mucosa. The proband, born in 1980, complained of recurrent abdominal pain that was incompletely relieved by aluminum hydroxide and magnesium hydroxide. Although scans using technetium 99 were negative, surgery was undertaken because of the family history. A Meckel diverticulum containing mucosa resembling that of the gastric fundus was found.
GI \- Meckel diverticulum \- Heterotopic gastric mucosa Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MECKEL DIVERTICULUM
|
c0025037
| 25,200 |
omim
|
https://www.omim.org/entry/155140
| 2019-09-22T16:38:31 |
{"doid": ["9487"], "mesh": ["D008467"], "omim": ["155140"], "icd-9": ["751.0"], "icd-10": ["Q43.0"]}
|
Spinal intradural arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and are caused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spinal intradural arachnoid cysts
|
c0344485
| 25,201 |
gard
|
https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts
| 2021-01-18T17:57:37 |
{"mesh": ["C536878"], "omim": ["182990"], "umls": ["C0344485"], "synonyms": ["Arachnoid cysts, spinal intradural"]}
|
Plantar fascial rupture
Other namesPlantar fascial tear
Dissection of the plantar aponeurosis:
LP, lateral part; CP, central part; MP, medial part; L, length; W, width.
A plantar fascial rupture, is a painful tear in the plantar fascia. The plantar fascia is a connective tissue that spans across the bottom of the foot.[1] The condition plantar fasciitis may increase the likelihood of rupture.[2] A plantar fascial rupture may be mistaken for plantar fasciitis or even a calcaneal fracture. To allow for proper diagnosis, an MRI is often needed.
## Contents
* 1 Types
* 1.1 Complete
* 1.2 Partial
* 2 Treatment
* 2.1 Immobilization
* 2.2 Physical therapy
* 2.3 Other treatments
* 3 References
## Types[edit]
### Complete[edit]
Complete tears of the plantar fascia are often due to sudden trauma or injury.[2] Often, the rupture will be accompanied by a popping sound and painful snapping sensation. The bottom of the foot often bruises and swells. Former NFL athlete Peyton Manning suffered a complete rupture in 2015.[3]
The surgical procedure known as a plantar fascia release actually involves the purposeful infliction of a complete tear of the plantar fascia. This is intended to relieve plantar fasciitis symptoms when the tissue recovers by building more tissue, elongating the previously tight plantar fascia.[4]
### Partial[edit]
Partial tears are seemingly even less common than complete tears. They are more likely to arise from overuse from activities like daily running. The bottom of the foot may be swollen or bruised.
## Treatment[edit]
Full recovery from both complete and partial tears typically takes 12 weeks or more. However, activities may gradually resume after 6-8 weeks when the plantar fascia will be mostly recovered.[5] Surgery is typically a last resort. At home, it might be advisable to follow the RICE method to reduce inflammation and ease pain.
### Immobilization[edit]
For the first 2-4 weeks after diagnosis, patients are often instructed to use a walking boot to immobilize and protect the foot.
### Physical therapy[edit]
During the immobilization period, it is important to keep the foot flexible by lightly stretching the foot and calf regularly.
As the plantar fascia recovers, physical therapy exercises help stabilize the ankle and correct gait patterns that may have contributed to the tear. Stretching and strengthening exercises decrease the chance of reinjury.
### Other treatments[edit]
Platelet-Rich Plasma injections may be used to help accelerate recovery and decrease the chance of reinjury.
Cortisone injections may ease pain.
## References[edit]
1. ^ "Plantar Fascial Tears". American Foot & Leg Specialists. 2016-10-17. Retrieved 2018-04-23.
2. ^ a b "Plantar Fascia: Complete Guide on the Plantar Fascia Ligament | Heel That Pain". Heel That Pain. Retrieved 2018-04-23.
3. ^ "Sources: Peyton has partial tear of plantar fascia". ESPN.com. Retrieved 2018-04-23.
4. ^ "Plantar Fasciitis Surgery and Recovery | Heel That Pain". Heel That Pain. Retrieved 2018-04-23.
5. ^ "The Best Recovery for Partial Plantar Tear". Runner's World. 2014-06-10. Retrieved 2018-04-23.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Plantar fascial rupture
|
None
| 25,202 |
wikipedia
|
https://en.wikipedia.org/wiki/Plantar_fascial_rupture
| 2021-01-18T18:46:41 |
{"wikidata": ["Q55630099"]}
|
Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.
## Epidemiology
It has been described in two large families.
## Etiology
Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Progressive bifocal chorioretinal atrophy
|
c1833321
| 25,203 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75373
| 2021-01-23T17:22:39 |
{"gard": ["10123"], "mesh": ["C535356"], "omim": ["600790"], "umls": ["C1833321"], "synonyms": ["CRAPB", "PBCRA"]}
|
Perichondritis
Perichondritis of the pinna
SpecialtyOtorhinolaryngology
Differential diagnosisOtitis externa[1]
Perichondritis is inflammation of the perichondrium, a layer of connective tissue which surrounds cartilage.[2] A common form, auricular perichondritis (perichondritis auriculae) involves infection of the pinna due to infection of traumatic or surgical wound or the spread of inflammation into depth (eg. Infected transcartilaginous ear piercings).[3][4] It may lead to severe deformation of the pinna if not treated vigorously with IV antibiotics. The causative organism is usually Pseudomonas aeruginosa. A rare form is laryngeal perichondritis (perichondritis laryngis). It develops suddenly due to an injury, virulent organisms or compromised immune status of the host, and also affects cartilage of the larynx. This may result in deformations and stenoses.
## Contents
* 1 Signs and symptoms
* 2 See also
* 3 References
* 4 External links
## Signs and symptoms[edit]
Signs of perichondritis or chondritis in patients with an embedded earring are similar (these include pain, swelling and erythema of the overlying skin) and fluctuant swelling indicate an abscess that we should drain (typically associated with chondritis).[4] Clinically, perichondritis can be differentiated from cellulitis of the pinna, in that the first usually does not involve the earlobe.[4]
In serious cases pus appears between the perichondrium and cartilage. Purulent melting of auricular cartilage takes place. Dead tissue tears away, as a result, auricle deforms strongly and becomes shrunken.[citation needed]
## See also[edit]
* Chondritis
## References[edit]
1. ^ Wolfson, Allan B.; Hendey, Gregory W.; Ling, Louis J.; Rosen, Carlo L. (2009). Harwood-Nuss' Clinical Practice of Emergency Medicine. Lippincott Williams & Wilkins. p. PT428. ISBN 978-0-7817-8943-1.
2. ^ "Perichondritis" at Dorland's Medical Dictionary
3. ^ Medline Plus description of Perichondritis of the outer ear
4. ^ a b c Rodríguez, Javier Ignacio; Thöne, Natalie; Duque, Josefina; Brañes, Rocío (2019-05-31). "Infected transcartilaginous ear piercings. A case report and review of the literature". ARS MEDICA Revista de Ciencias Médicas. 44 (2): 23–25. doi:10.11565/arsmed.v44i2.1550. ISSN 0719-1855.
## External links[edit]
Classification
D
* SNOMED CT: 37600001
External resources
* MedlinePlus: 001253
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Perichondritis
|
c0155389
| 25,204 |
wikipedia
|
https://en.wikipedia.org/wiki/Perichondritis
| 2021-01-18T18:40:39 |
{"umls": ["C0155389"], "wikidata": ["Q2070842"]}
|
Molluscum dermatitis
SpecialtyDermatology
Molluscum dermatitis represents a unique form of id reaction, in which patients may present with localized or widespread eczema surrounding scattered lesions of molluscum contagiosum.[1]:81
## See also[edit]
* Skin lesion
## 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.
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Molluscum dermatitis
|
None
| 25,205 |
wikipedia
|
https://en.wikipedia.org/wiki/Molluscum_dermatitis
| 2021-01-18T18:53:15 |
{"wikidata": ["Q6896494"]}
|
Type of neurofibromatosis disease
Neurofibromatosis type II
Other namesmultiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome))
Micrograph of a schwannoma, a tumor seen in neurofibromatosis type II. HPS stain.
SpecialtyMedical genetics, neurology
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Besides, other benign brain and spinal tumors occur. Symptoms depend on the presence, localisation and growth of the tumor(s). Many people with this condition also experience visual problems. Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the "Merlin" gene,[1] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation.
## Contents
* 1 Classification
* 2 Cause
* 3 Pathogenesis
* 3.1 Pathology
* 3.2 Genotype-phenotype-correlation
* 4 Diagnosis
* 4.1 Prenatal
* 4.2 Postnatal
* 5 Treatment
* 5.1 Surgery
* 5.2 Medications
* 5.3 Hearing loss
* 6 Prevalence
* 7 References
* 8 Further reading
* 9 External links
## Classification[edit]
NF2 is an inheritable disorder with an autosomal dominant mode of transmission.[medical citation needed]
There are two forms of the NF2:[2]
* The Wishart-Phenotype is characterized by multiple cerebral and spinal lesions in people younger than 20 years and with rapid progression of the tumours.
* People with NF2 who develop single central tumours with slow progression after age of 20 are thought to have the Feiling-Gardner-Phenotype.
## Cause[edit]
NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.
NF2 is caused by inactivating mutations in the NF2 gene located at 22q12.2 of chromosome 22, type of mutations vary and include protein-truncating alterations (frameshift deletions/insertions and nonsense mutations), splice-site mutations, missense mutations and others. Deletions, too, in the NH2-terminal domain of merlin proteins have been associated with early tumor onset and poor prognosis in people with NF2.[3] Protein truncating mutations correlate with more severe phenotype.[4] There is a broad clinical spectrum known, but all people with the condition who have been checked have been found to have some mutation of the same gene on chromosome 22. Through statistics, it is suspected that one-half of cases are inherited, and one-half are the result of new, de novo mutations.
## Pathogenesis[edit]
NF2 is caused by a defect in the gene that normally gives rise to a product called Merlin or Schwannomin, located on chromosome 22 band q11-13.1. Merlin was first discovered as a structural protein functioning as an actin cytoskeleton regulator. Later merlin's tumour suppressant role was described. Merlin regulates multiple proliferative signalling cascades such as receptor tyrosine kinase signalling, p21-activated kinase signalling, Ras signalling, MEK-ERK cascade, MST-YAP cascade.[5] In a normal cell, the concentrations of active (dephosphorylated) merlin are controlled by processes such as cell adhesion (which would indicate the need to restrain cell division). It has been shown that Merlin inhibits Rac1 which is crucial for cell motility and tumour invasion.[6] Also, merlin's interaction with cyclin D was described.[7] It is known that Merlin's deficiency can result in unmediated progression through the cell cycle due to the lack of contact-mediated tumour suppression, mainly because of the cell:cell junction disruption, sufficient to result in the tumors characteristic of Neurofibromatosis type II. Recent studies showed that besides its cytoskeletal and cytoplasmic functions Merlin also translocates to the nucleus and suppresses proliferation by inhibiting E3 ubiquitin ligase CRL4(DCAF1).[8] Finally, most recent studies indicated that Merlin also plays important role in energy metabolism regulation.[9][10] Mutations of NF2 is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that lacks the normal tumor-suppressive effect. The Schwannomin-peptide consists of 595 amino acids. Comparison of Schwannomin with other proteins shows similarities to proteins that connect the cytoskeleton to the cell membrane. Mutations in the Schwannomin-gene are thought to alter the movement and shape of affected cells with loss of contact inhibition. Ependymomas are tumors arising from the ependyma, an epithelium-like tissue of the central nervous system. In people with NF2 and ependymomas, the tumor suppressant function of Merlin may be compromised. Loss of function mutations occurring in chromosome 22q, where Merlin proteins are coded, can promote tumorigenesis, or the creation of new tumorous cells.[3] Deletions, too, in the NH2-terminal domain of merlin proteins have been associated with early tumor onset and poor prognosis in affected people.[3]
### Pathology[edit]
Schwannoma of the N. Vestibularis
Meningiomas in a person with NFII
The so-called acoustic neuroma of NF2 is in fact a schwannoma of the nervus vestibularis, or vestibular schwannoma. The misnomer of acoustic neuroma is still often used. The vestibular schwannomas grow slowly at the inner entrance of the internal auditory meatus (meatus acousticus internus). They derive from the nerve sheaths of the upper part of the nervus vestibularis in the region between the central and peripheral myelin (Obersteiner-Redlich-Zone) within the area of the porus acousticus, 1 cm from the brainstem.
### Genotype-phenotype-correlation[edit]
Many people with NF2 were included in studies that were designed to compare disease type and progression with exact determination of the associated mutation. The goal of such comparisons of genotype and phenotype is to determine whether specific mutations cause respective combinations of symptoms. This would be extremely valuable for the prediction of disease progression and the planning of therapy starting at a young age. The results of such studies are the following:
* In most cases the mutation in the NF2 gene causes shortened peptides.
* There are no mutational hot-spots.
* People with frameshift mutations or nonsense mutations have poor prognosis.
* People with missense mutations have a better prognosis.
* In cases with mutations in the splice-acceptor-region, there is no good correlation to determine.
* Point mutations may have only minor effects.
* Cases are published[citation needed] in which exactly the same mutation is associated with clearly different outcome.
These results suggest that other factors (environment, other mutations) will probably determine the clinical outcome.
## Diagnosis[edit]
NF-2 Locus
### Prenatal[edit]
Bilateral vestibular schwannomas are diagnostic of NF2.[11]
### Postnatal[edit]
Ferner et al.[12] give three sets of diagnostic criteria for NF2:
1. Bilateral vestibular schwannoma (VS) or family history of NF2 plus Unilateral VS or any two of: meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
2. Unilateral VS plus any two of meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
3. Two or more meningioma plus unilateral VS or any two of glioma, schwannoma and cataract.
Another set of diagnostic criteria is the following:
* Detection of bilateral acoustic neuroma by imaging-procedures
* First degree relative with NF2 and the occurrence of neurofibroma, meningiomas, glioma, or Schwannoma
* First degree relative with NF2 and the occurrence of juvenile posterior subcapsular cataract.
The criteria have varied over time.[13] The last revision of the NF2 criteria was done by M.J. Smith in 2017. This included the consideration of a LZTR1 mutation (schwannomatosis) instead of NF2 and excluded bilateral vestibular schwannomas that occur after 70 years of age.[14]
## Treatment[edit]
### Surgery[edit]
There are several different surgical techniques for the removal of acoustic neuroma.[15] The choice of approach is determined by size of the tumour, hearing capability, and general clinical condition of the person.
* The retrosigmoid approach offers some opportunity for the retention of hearing.
* The translabyrinthine approach will sacrifice hearing on that side, but will usually spare the facial nerve. Post-operative cerebrospinal fluid leaks are more common.
* The middle fossa approach is preferred for small tumours, and offers the highest probability of retention of hearing and vestibular function.
* Less invasive endoscopic techniques have been done outside of the United States for some time. Recovery times are reported to be faster. However, this technique is not yet mainstream among surgeons in the US.
Larger tumors can be treated by either the translabyrinthine approach or the retrosigmoid approach, depending upon the experience of the surgical team. With large tumors, the chance of hearing preservation is small with any approach. When hearing is already poor, the translabyrinthine approach may be used for even small tumors. Small, lateralized tumours in people with NF2 with good hearing should have the middle fossa approach. When the location of the tumour is more medial a retrosigmoid approach may be better.
Auditory canal decompression is another surgical technique that can prolong usable hearing when a vestibular schwannoma has grown too large to remove without damage to the cochlear nerve. In the IAC (internal auditory canal) decompression, a middle fossa approach is employed to expose the bony roof of the IAC without any attempt to remove the tumor. The bone overlying the acoustic nerve is removed, allowing the tumour to expand upward into the middle cranial fossa. In this way, pressure on the cochlear nerve is relieved, reducing the risk of further hearing loss from direct compression or obstruction of vascular supply to the nerve.
Radiosurgery is a conservative alternative to cranial base or other intracranial surgery. With conformal radiosurgical techniques, therapeutic radiation focused on the tumour, sparing exposure to surrounding normal tissues. Although radiosurgery can seldom completely destroy a tumor, it can often arrest its growth or reduce its size. While radiation is less immediately damaging than conventional surgery, it incurs a higher risk of subsequent malignant change in the irradiated tissues, and this risk is higher in NF2 than in sporadic (non-NF2) lesions.
### Medications[edit]
There are no prescription medicines currently indicated for reduction in tumor burden for NF2 patients, although in patient studies Bevacizumab has resulted in reduction in tumor growth rates and hearing improvements in some patients.[16][17]
### Hearing loss[edit]
Because hearing loss in those with NF2 almost always occurs after acquisition of verbal language skills, people with NF2 do not always integrate well into Deaf culture and are more likely to resort to auditory assistive technology.[citation needed] One of these devices is the cochlear implant, which can sometimes restore a high level of auditory function even when natural hearing is totally lost. However, the amount of destruction to the cochlear nerve caused by the typical NF2 schwannoma often precludes the use of such an implant. In these cases, an auditory brainstem implant (ABI) can restore some level of hearing, supplemented by lip reading.
## Prevalence[edit]
Incidence of the condition is about 1 in 60,000.[18]
## References[edit]
1. ^ Striedinger K, VandenBerg SR, Baia GS, McDermott MW, Gutmann DH, Lal A (November 2008). "The neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP". Neoplasia. 10 (11): 1204–12. doi:10.1593/neo.08642. PMC 2570596. PMID 18953429.
2. ^ Walter J, Kuhn SA, Brodhun M, Reichart R, Kalff R (June 2009). "Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2". Clin Neurol Neurosurg. 111 (5): 454–9. doi:10.1016/j.clineuro.2008.11.018. PMID 19249154. S2CID 22696343.
3. ^ a b c Stamenkovic, I; Yu, Q (2010). "Merlin, a "magic" linker between extracellular cues and intracellular signaling pathways that regulate cell motility, proliferation, and survival". Current Protein & Peptide Science. 11 (6): 471–84. doi:10.2174/138920310791824011. PMC 2946555. PMID 20491622.
4. ^ Cooper, Jonathan; Giancotti, Filippo G. (2014-04-12). "Molecular insights into NF2/Merlin tumor suppressor function". FEBS Letters. 588 (16): 2743–2752. doi:10.1016/j.febslet.2014.04.001. PMC 4111995. PMID 24726726.
5. ^ Okada, Tomoyo; You, Liru; Giancotti, Filippo G. (May 2007). "Shedding light on Merlin's wizardry". Trends in Cell Biology. 17 (5): 222–229. doi:10.1016/j.tcb.2007.03.006. ISSN 1879-3088. PMID 17442573.
6. ^ Sherman, Larry; Gutmann, David (1 November 2001). "Merlin: hanging tumor suppression on the Rac" (PDF). Trends in Cell Biology. 11 (11): 442–444. doi:10.1016/S0962-8924(01)02128-6. ISSN 0962-8924. PMID 11684412.
7. ^ Xiao, Guang-Hui; Gallagher, Ryan; Shetler, Justin; Skele, Kristine; Altomare, Deborah; Pestell, Richard; Jhanwar, Suresh; Testa, Joseph (March 2005). "The NF2 tumor suppressor gene product, merlin, inhibits cell proliferation and cell cycle progression by repressing cyclin D1 expression". Molecular and Cellular Biology. 25 (6): 2384–2394. doi:10.1128/MCB.25.6.2384-2394.2005. ISSN 0270-7306. PMC 1061616. PMID 15743831.
8. ^ Cooper, Jonathan; Li, Wei; You, Liru; Schiavon, Gaia; Pepe-Caprio, Angela; Zhou, Lu; Ishii, Ryohei; Giovannini, Marco; Hanemann, C. Oliver (2011-08-23). "Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression". Science Signaling. 4 (188): pt6. doi:10.1126/scisignal.2002314. ISSN 1937-9145. PMID 21878678. S2CID 9582719.
9. ^ Stepanova, Dina; Braun, Lanita; Chernoff, Jonathan (May 2018). "A new concept in NF2 pharmacotherapy: targeting fatty acid synthesis". Oncoscience. 5 (5–6): 126–127. doi:10.18632/oncoscience.417. ISSN 2331-4737. PMC 6049319. PMID 30035161.
10. ^ Stepanova, Dina; Semenova, Galina; Kuo, Yin-Ming; Andrews, Andrew J.; Ammoun, Sylwia; Hanemann, C. Oliver; Chernoff, Jonathan (15 September 2017). "An Essential Role for the Tumor-Suppressor Merlin in Regulating Fatty Acid Synthesis". Cancer Research. 77 (18): 5026–5038. doi:10.1158/0008-5472.CAN-16-2834. ISSN 1538-7445. PMC 5600854. PMID 28729415.
11. ^ Christopher Gillberg (16 October 2003). Clinical Child Neuropsychiatry. Cambridge University Press. pp. 231–. ISBN 978-0-521-54335-4. Retrieved 20 December 2010.
12. ^ Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.
13. ^ "Neurofibromatosis Type 2: eMedicine Radiology". 2016-09-26. Retrieved 2010-12-20. Cite journal requires `|journal=` (help)
14. ^ Smith, M. J; Bowers, N. L; Bulman, M; Gokhale, C; Wallace, A. J; King, A. T; Lloyd, S. K; Rutherford, S. A; Hammerbeck-Ward, C. L; Freeman, S. R; Evans, D. G (2017). "Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis". Neurology. 88 (1): 87–92. doi:10.1212/WNL.0000000000003418. PMC 5200853. PMID 27856782.
15. ^ Jean Régis; Pierre-Hugues Roche (2008). Modern Management of Acoustic Neuroma. Karger Publishers. pp. 191–. ISBN 978-3-8055-8370-1. Retrieved 20 December 2010.
16. ^ "Neurofibromatosis Information Page". National Institute of Neurological Disorders and Stroke. Retrieved June 16, 2019.
17. ^ Katrina A. Morris; John F. Golding; Patrick R. Axon; et al. (2016). "Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation". Neurooncol Pract. 3 (4): 281–289. doi:10.1093/nop/npv065. PMC 5909937. PMID 29692918.
18. ^ Evans DG (2009). "Neurofibromatosis type 2 (NF2): a clinical and molecular review". Orphanet J Rare Dis. 4: 16. doi:10.1186/1750-1172-4-16. PMC 2708144. PMID 19545378.
## Further reading[edit]
* Evans, D. Gareth (1993). "Neurofibromatosis 2". GeneReviews. University of Washington, Seattle. Retrieved 30 May 2017.
## External links[edit]
Classification
D
* ICD-10: D33, Q85.0 (ILDS Q85.020)
* ICD-9-CM: 237.72
* OMIM: 101000
* MeSH: D016518
* DiseasesDB: 8960
External resources
* MedlinePlus: 000795
* eMedicine: neuro/496 radio/475
* GeneReviews: Neurofibromatosis 2
* v
* t
* e
Phakomatosis
Angiomatosis
* Sturge–Weber syndrome
* Von Hippel–Lindau disease
Hamartoma
* Tuberous sclerosis
* Hypothalamic hamartoma (Pallister–Hall syndrome)
* Multiple hamartoma syndrome
* Proteus syndrome
* Cowden syndrome
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
Neurofibromatosis
* Type I
* Type II
Other
* Abdallat–Davis–Farrage syndrome
* Ataxia telangiectasia
* Incontinentia pigmenti
* Peutz–Jeghers syndrome
* Encephalocraniocutaneous lipomatosis
* v
* t
* e
Tumours of the nervous system
Endocrine
Sellar:
* Craniopharyngioma
* Pituicytoma
Other:
* Pinealoma
CNS
Neuroepithelial
(brain tumors,
spinal tumors)
Glioma
Astrocyte
* Astrocytoma
* Pilocytic astrocytoma
* Pleomorphic xanthoastrocytoma
* Subependymal giant cell astrocytoma
* Fibrillary astrocytoma
* Anaplastic astrocytoma
* Glioblastoma multiforme
Oligodendrocyte
* Oligodendroglioma
* Anaplastic oligodendroglioma
Ependyma
* Ependymoma
* Subependymoma
Choroid plexus
* Choroid plexus tumor
* Choroid plexus papilloma
* Choroid plexus carcinoma
Multiple/unknown
* Oligoastrocytoma
* Gliomatosis cerebri
* Gliosarcoma
Mature
neuron
* Ganglioneuroma: Ganglioglioma
* Retinoblastoma
* Neurocytoma
* Dysembryoplastic neuroepithelial tumour
* Lhermitte–Duclos disease
PNET
* Neuroblastoma
* Esthesioneuroblastoma
* Ganglioneuroblastoma
* Medulloblastoma
* Atypical teratoid rhabdoid tumor
Primitive
* Medulloepithelioma
Meninges
* Meningioma
* Hemangiopericytoma
Hematopoietic
* Primary central nervous system lymphoma
PNS:
* Nerve sheath tumor
* Cranial and paraspinal nerves
* Neurofibroma
* Neurofibromatosis
* Neurilemmoma/Schwannoma
* Acoustic neuroma
* Malignant peripheral nerve sheath tumor
Other
* WHO classification of the tumors of the central nervous system
Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis).
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and 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
|
Neurofibromatosis type II
|
c0027832
| 25,206 |
wikipedia
|
https://en.wikipedia.org/wiki/Neurofibromatosis_type_II
| 2021-01-18T18:28:13 |
{"gard": ["7193"], "mesh": ["D016518"], "umls": ["C0027832"], "icd-9": ["237.72"], "icd-10": ["D33", "Q85.0"], "orphanet": ["637"], "wikidata": ["Q1935832"]}
|
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
## Epidemiology
About 80 cases have been identified to date and most involved patients are of northern European descent. Some cases have been reported in patients from Asia and the Mediterranean area.
## Clinical description
ATMDS occurs predominantly in males during the 7th decade of life (male-to-female ratio greater than 6:1). The main clinical features include anemia and other signs associated with MDS such as shortness of breath, weakness, tendency to bruise or bleed and an increased susceptibility to infections. It has occasionally been associated with MPD and in these cases, splenomegaly frequently co-occurs. MDS progresses to leukemia in about 25% of cases and HbH is usually no longer detectable at this time.
## Etiology
ATMDS is due to acquired somatic mutations in the ATRX gene (Xq21.1). There is also evidence that acquired deletions of chromosome 16p may be causative. These defects result in significant down-regulation of alpha-globin gene expression.
## Diagnostic methods
Typical hematological findings show hypochromic microcytic red blood cells and striking anisopoikilocytosis, and the presence of HbH inclusions in a proportion of red blood cells that varies depending on the patients. Cytological and cytogenetic analysis of bone marrow cells is required to confirm the diagnosis and to classify the underlying MDS. Direct sequencing of the ATRX gene in DNA samples from blood or bone marrow usually indicates a mosaicism, identified by a single nucleotide mutation.
## Differential diagnosis
Differential diagnoses include other causes of anemia, cytopenia or microcytosis. It is especially important to exclude an inherited form of alpha-thalassemia by molecular analysis of the HBA locus.
## Management and treatment
Treatment depends on the underlying MDS. Stem cell transplantation is the only curative treatment but it is rarely feasible. Other treatment options may include hypomethylant (azacitabine) therapy and lenalinomide. Supportive care includes blood transfusions, erythropoietin stimulating agents, growth factors, antibiotics (if infections are present), and iron chelation therapy in those undergoing long term transfusion therapy.
## Prognosis
Prognosis depends on the sub-type of MDS according to the International scoring system (ISS). The scoring system takes into account the percentage of marrow blasts, the severity of cytopenia, and cytogenetic analysis of bone marrow cells. Death is usually due to leukemic transformation, infections due to neutropenia, bleeding related to thrombocytopenia and, in some cases, to other co-morbidities such as cardiovascular disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Alpha-thalassemia-myelodysplastic syndrome
|
c0585216
| 25,207 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231401
| 2021-01-23T18:49:34 |
{"mesh": ["C563023"], "omim": ["300448"], "umls": ["C0585216"], "icd-10": ["D46.7", "D56.0"], "synonyms": ["ATMDS", "Acquired HbH disease", "Acquired hemoglobin H disease"]}
|
Incurable, fatal disease that affects cats
Feline infectious peritonitis
FIP-infected kidney showing inflammatory response
SpecialtyInfectious disease
SymptomsInitial phase: common cold-like symptoms.
Later on: ataxia, muscle weakness, dysphagia.
End phase: shortness of breath, urinary incontinence, paralysis.
Usual onsetCan take up to a year for symptoms to appear after exposure to virus
Duration1-month or less average life expectancy after diagnosis, especially in kittens
CausesMutation of feline coronavirus
PreventionKeeping cats indoor to prevent the spread of feline coronavirus
TreatmentNone approved, some treatments show promise in early trials[1]
PrognosisFatal
FrequencyCommon
Feline infectious peritonitis (FIP) is the name given to a common and aberrant immune response to infection with feline coronavirus (FCoV).[2]
## Contents
* 1 The virus and pathogenesis of FIP
* 2 Virus transmission
* 3 Clinical signs
* 3.1 Effusive (wet) FIP
* 3.2 Non-effusive (dry) FIP
* 4 Diagnosis
* 4.1 Diagnosing effusive FIP
* 4.2 Diagnosing non-effusive FIP
* 5 Treatment
* 5.1 Antiviral drugs
* 5.2 Modulation of the immune response
* 6 Prevention
* 6.1 Vaccination
* 6.2 Prevention
* 7 In film
* 8 See also
* 9 References
* 10 External links
## The virus and pathogenesis of FIP[edit]
FCoV is a virus of the gastrointestinal tract. Most infections are either asymptomatic or cause diarrhea, especially in kittens, as maternally derived antibody wanes at between 5 and 7 weeks of age. The virus is a mutation of feline enteric coronavirus (FECV). From the gut, the virus very briefly undergoes a systemic phase,[3] before returning to the gut where it is shed in the feces.
The pathogenesis of FIP is complex. There is a general consensus that FIPVs arise from mutations enabling them to enter or replicate more successfully in monocytes (a type of white blood cell). However, many aspects of virus–host interactions affecting the disease remain uncertain, such as the factors that influence disease form (wet or dry), outcome (death or resistance), and host susceptibility.[4]
## Virus transmission[edit]
FCoV is common in places where large groups of cats are housed together indoors (e.g. breeding catteries, animal shelters, etc.). The virus is shed in feces and cats become infected by ingesting or inhaling the virus, usually by sharing cat litter trays, or by the use of contaminated litter scoops or brushes transmitting infected microscopic cat litter particles to uninfected kittens and cats.[5] FCoV can also be transmitted through different bodily fluids. The virus is easily spread through direct contact between cats. The most common form of spreading is through saliva, as most multiple cat homes share food and water dishes.[6] Another major form of spreading is grooming or fighting. When an infected cat grooms a healthy cat, they leave their contaminated saliva on the fur. Later, when the healthy cat goes to groom themselves, they ingest the contaminated saliva and then become infected.[7]
## Clinical signs[edit]
FIP effusive fluid
There are two main forms of FIP: effusive (wet) and non-effusive (dry). While both types are fatal, the effusive form is more common (60–70% of all cases) and progresses more rapidly than the non-effusive form.
### Effusive (wet) FIP[edit]
The hallmark clinical sign of effusive FIP is the accumulation of fluid within the abdomen or chest, which can cause breathing difficulties. Other symptoms include lack of appetite, fever, weight loss, jaundice, and diarrhea.
### Non-effusive (dry) FIP[edit]
Dry FIP will also present with lack of appetite, fever, jaundice, diarrhea, and weight loss, but there will not be an accumulation of fluid. Typically a cat with dry FIP will show ocular or neurological signs. For example, the cat may develop difficulty in standing up or walking, becoming functionally paralyzed over time. Loss of vision is another possible outcome of the disease.
## Diagnosis[edit]
Cytology of FIP-induced fluid showing neutrophils, macrophages and lymphocytes
### Diagnosing effusive FIP[edit]
Diagnosis of the effusive form of the disease has become more straightforward in recent years. Detection of viral RNA in a sample of the effusion (liquid drained from body), such as by reverse transcription polymerase chain reaction (RT-PCR) is diagnostic of effusive FIP.[8][9][10] However, that does require that a sample be sent to an external veterinary laboratory. Within the veterinary hospital there are a number of tests which can rule out a diagnosis of effusive FIP within minutes:
1. Measure the total protein in the effusion: if it is less than 35g/L, FIP is extremely unlikely.
2. Measure the albumin to globulin ratio in the effusion: if it is over 0.8, FIP is ruled out; if it is less than 0.4, FIP is a possible—but not certain—diagnosis.[11]
3. Examine the cells in the effusion: if they are predominantly lymphocytes (a type of white blood cell), then FIP is excluded as a diagnosis.
### Diagnosing non-effusive FIP[edit]
Non-effusive FIP is more difficult to diagnose than effusive FIP because the clinical signs tend to be more vague and varied: the list of differential diagnoses is therefore much longer. Non-effusive FIP diagnosis should be considered when the following criteria are met:[11]
1. History: the cat is young (under 2 years old) and purebred: over 70% of cases of FIP are in pedigree kittens.
2. History: the cat experienced stress such as recent neutering or vaccination[12]
3. History: the cat had an opportunity to become infected with FCoV, such as originating in a breeding or rescue cattery, or the recent introduction of a purebred kitten or cat into the household.
4. Clinical signs: the cat has become anorexic or is eating less than usual; has lost weight or failed to gain weight; has a fever of unknown origin; intra-ocular signs; jaundice.[13]
5. Biochemistry: hypergammaglobulinaemia; raised bilirubin without liver enzymes being raised.
6. Hematology: lymphopenia; non-regenerative—usually mild—anaemia.
7. Serology: the cat has a high antibody titre to FCoV: this parameter should be used with caution, because of the high prevalence of FCoV in breeding and rescue catteries.
Non-effusive FIP can be ruled out as a diagnosis if the cat is seronegative, provided the antibody test has excellent sensitivity. In a study which compared various commercially available in-house FCoV antibody tests,[14] the FCoV Immunocomb (Biogal) was 100% sensitive; the Speed F-Corona rapid immunochromatographic (RIM) test (Virbac) was 92.4% sensitive and the FASTest feline infectious peritonitis (MegaCor Diagnostik) RIM test was 84.6% sensitive.
## Treatment[edit]
Eight-month-old kitten in end stage "dry" FIP, who had signs of anemia, lethargy, and weight loss. She exhibited eye changes (widening and paralysis of pupils) during seizures.
Because FIP is an immune-mediated disease, treatment falls into two categories: direct action against the virus itself and modulation of the immune response.
### Antiviral drugs[edit]
The most commonly available antiviral drugs for treating FIP are either feline recombinant interferon omega (Virbagen Omega, Virbac) or human interferon. Since the action of interferon is species-specific, feline interferon is more effective than human interferon.
An experimental drug called GS-441524 was used in a field experiment of 31 cats. After 25 days, five cats had died, eight had been cured and subsequently relapsed, and 18 had been cured without any subsequent relapses. The eight who relapsed were treated again, some with higher doses. Of these eight, one died and seven were cured, meaning that 25 of the 31 cats were ultimately cured of FIP. Although the drug is not yet (as of 2019) commercially available in the United States, this study is considered very promising and may lead to commercially available medication for the treatment of FIP.[15] GS-441524 is available at >99% purity commercially from research chemical suppliers such as Selleckchem,[16] MedKoo[17] and MedChemExpress.[18]
An experimental antiviral drug called GC376 was used in a field trial of 20 cats: 7 cats went into remission, and 13 cats responded initially but relapsed and were euthanized. This drug is not yet (as of 2017) commercially available.[19]
### Modulation of the immune response[edit]
The go-to immunosuppressive drug in FIP is prednisolone.
An experimental polyprenyl immunostimulant (PI) is manufactured by Sass and Sass and tested by Dr. Al Legendre, who described survival over 1 year in three cats diagnosed with FIP and treated with the medicine.[20] In a subsequent field study of 60 cats with non-effusive FIP treated with PI, 52 cats (87%) died before 200 days, but eight cats survived over 200 days from the start of PI treatment for and four of those survived beyond 300 days.[21]
## Prevention[edit]
### Vaccination[edit]
There is no effective vaccine against FIPV. DNA vaccination with plasmids encoding FIPV proteins failed to produce immunity.[22] Rather, it was observed that antibodies to the FIPV spike protein exacerbate the disease.
### Prevention[edit]
Kittens are protected from infection by maternally derived antibody until weaning, usually around 5–7 weeks of age; therefore, it is possible to prevent infection of kittens by removing them from sources of infection.[23] However, FCoV is a very contagious virus and such prevention does require rigorous hygiene.
## In film[edit]
A 2018 film titled Aeris, by Paul Castro Jr. and Aly Miller, and starring Frank Deal, Arabella Oz and Betsy Aidem, is about a kitten born with FIP that is purchased from a pet store and the owners' twelve days with it.[24][25] The film received an award at the 2018 Garden State Film Festival in the Narrative Short category[26] and was a Gold Kahuna winner at the 2018 Honolulu Film Awards.[27]
## See also[edit]
* Feline vaccination
* Feline leukemia virus
## References[edit]
1. ^ "FIP drugs continue to show promise, while being sold on black market".
2. ^ Addie, D.; Belák, S.; Boucraut-Baralon, C.; Egberink, H.; Frymus, T.; Gruffydd-Jones, T.; Hartmann, K.; Hosie, M. J.; Lloret, A.; et al. (2009-07-11). "Feline infectious peritonitis. ABCD guidelines on prevention and management". Journal of Feline Medicine and Surgery. 11 (7): 594–604. doi:10.1016/j.jfms.2009.05.008. PMC 7129471. PMID 19481039.
3. ^ Porter, E.; Tasker, S.; Day, M. J.; Harley, R.; Kipar, A.; Siddell, S. G.; Helps, C. R. (2014-04-25). "Amino acid changes in the spike protein of feline coronavirus correlate with systemic spread of virus from the intestine and not with feline infectious peritonitis". Veterinary Research. BiomedCentral. 45 (1): 49. doi:10.1186/1297-9716-45-49. PMC 4006447. PMID 24767677.
4. ^ Pedersen, N. C. (August 2014). "An update on feline infectious peritonitis: virology and immunopathogenesis". The Veterinary Journal. 201 (2): 123–132. doi:10.1016/j.tvjl.2014.04.017. PMC 7110662. PMID 24837550.
5. ^ "How cats become infected with feline coronavirus: animation".
6. ^ "Feline Infectious Peritonitis (FIP) Transmission - Feline Infectious Peritonitis (FIP)". HealthCommunities. Retrieved 2018-11-02.
7. ^ "FIP | The Cat Community". The Cat Community. Retrieved 2018-11-02.
8. ^ Felten, S.; Leutenegger, C. M.; Balzer, H-J; Pantchev, N.; Matiasek, K.; Wess, G.; Egberink, H.; Hartmann, K. (2017-08-02). "Sensitivity and specificity of a real-time reverse transcriptase polymerase chain reaction detecting feline coronavirus mutations in effusion and serum/plasma of cats to diagnose feline infectious peritonitis". Veterinary Research. BiomedCentral. 13 (1): 228. doi:10.1186/s12917-017-1147-8. PMC 5541694. PMID 28768514.
9. ^ Doenges, S. J.; Weber, K.; Dorsch, R.; Fux, R.; Hartmann, K. (2017-04-01). "Comparison of real-time reverse transcriptase polymerase chain reaction of peripheral blood mononuclear cells, serum and cell-free body cavity effusion for the diagnosis of feline infectious peritonitis" (PDF). Journal of Feline Medicine and Surgery. 19 (4): 344–350. doi:10.1177/1098612X15625354. PMID 26787293. S2CID 7136727.
10. ^ Longstaff, L.; Porter, E.; Crossley, V. J.; Hayhow, S. E.; Helps, C. R.; Tasker, S. (2015-10-16). "Feline coronavirus quantitative reverse transcriptase polymerase chain reaction on effusion samples in cats with and without feline infectious peritonitis". Journal of Feline Medicine and Surgery. 19 (2): 240–245. doi:10.1177/1098612X15606957. PMID 26474594. S2CID 206692877.
11. ^ a b "Dr. Addie - What is FIP?". www.catvirus.com.
12. ^ Riemer, F.; Kuehner, K. A.; Ritz, S.; Sauter-Louis, C.; Hartmann, K. (2015-07-16). "Clinical and laboratory features of cats with feline infectious peritonitis – a retrospective study of 231 confirmed cases (2000–2010)". Journal of Feline Medicine and Surgery. 18 (4): 348–356. doi:10.1177/1098612X15586209. PMID 26185109. S2CID 206692653.
13. ^ Diane D. Addie (2013-04-19). Feline Infectious Peritonitis and Coronavirus: Everything a cat lover needs to know. ISBN 978-1480208971.
14. ^ Addie, D. D.; le Poder, S.; Burr, P.; Decaro, N.; Graham, E.; Hofmann-Lehmann, R.; Jarrett, O.; McDonald, M.; Meli, M. L. (2015-02-01). "Utility of feline coronavirus antibody tests". Journal of Feline Medicine and Surgery. 17 (2): 152–162. doi:10.1177/1098612X14538873. PMID 24966245. S2CID 21831168.
15. ^ Pedersen, N. C.; Perron, M.; Bannasch, M.; Montgomery, E.; Murakami, E.; Liepnieks, M.; Liu, H. (2019-02-13). "Efficacy and safety of the nucleoside analog GS-441524 for treatment of cats with naturally occurring feline infectious peritonitis". Journal of Feline Medicine and Surgery. 21 (4): 271–281. doi:10.1177/1098612X19825701. PMC 6435921. PMID 30755068.
16. ^ https://www.selleckchem.com/products/gs-441524.html
17. ^ https://medkoo.com/products/27317
18. ^ https://www.medchemexpress.com/GS-441524.html
19. ^ Pedersen, N. C.; Kim, Y.; Liu, H.; Galasiti Kankanamalage, A. C.; Eckstrand, C.; Groutas, W. C.; Bannasch, M.; Meadows, J. M.; Chang, K. O. (2017-09-13). "Efficacy of a 3C-like protease inhibitor in treating various forms of acquired feline infectious peritonitis". Journal of Feline Medicine and Surgery. 20 (4): 378–392. doi:10.1177/1098612X17729626. PMC 5871025. PMID 28901812. S2CID 4595813.
20. ^ Legendre, A. M.; Bartges, J. W. (2009-08-01). "Effect of Polyprenyl Immunostimulant on the survival times of three cats with the dry form of feline infectious peritonitis". Journal of Feline Medicine and Surgery. 11 (8): 624–626. doi:10.1016/j.jfms.2008.12.002. PMC 7130077. PMID 19482534.
21. ^ Legendre, A. M.; Kuritz, T.; Galyon, G.; Baylor, V. M.; Heidel, R. E. (2017-02-14). "Polyprenyl Immunostimulant Treatment of Cats with Presumptive Non-Effusive Feline Infectious Peritonitis In a Field Study". Frontiers in Veterinary Science. 4: 7. doi:10.3389/fvets.2017.00007. PMC 5306384. PMID 28261584. S2CID 4835088.
22. ^ Glansbeek, H. L.; Haagmans, B. L.; Te Lintelo, E. G.; Egberink, H. F.; Duquesne, V.; Aubert, A.; Horzinek, M. C.; Rottier PJM (2002). "Adverse effects of feline IL-12 during DNA vaccination against feline infectious peritonitis virus". J Gen Virol. 83 (Pt 1): 1–10. doi:10.1099/0022-1317-83-1-1. PMID 11752695.
23. ^ Addie, D. D.; Jarrett, O. (1992-02-15). "A study of naturally occurring feline coronavirus infection in kittens". Veterinary Record. 130 (7): 133–137. doi:10.1136/vr.130.7.133. PMID 1313617. S2CID 10155484.
24. ^ "Aeris (2018)". Rotten Tomatoes.
25. ^ "The Story of Aeris: A Legacy Inspired by Love". The Purrington Post. Nov 30, 2016.
26. ^ "Garden State Film Festival 2018 Winners". New Jersey Stage. 2018-04-10.
27. ^ "2018 Winners, 2018 Gold Kahuna Winners". Honolulu Film Awards.
## External links[edit]
* Feline Infectious Peritonitis and Coronavirus Website
* Why Do Cats Purr? Is It Good Or Bad? \- Two Cat Freaks Blog
* Feline Infectious Peritonitis from vetinfo.com
* Research on Feline Infectious Peritonitis from University of Tennessee, College of Veterinary Medicine
* FIP: A 2012 Update
* FIP Informational Brochure from the Cornell Feline Health Center
* UC Davis Center for Companion Animal Health
* Animal Health Channel
* Feline Advisory Bureau
* FIP (Felipedia.org)
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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
|
Feline infectious peritonitis
|
c0085306
| 25,208 |
wikipedia
|
https://en.wikipedia.org/wiki/Feline_infectious_peritonitis
| 2021-01-18T18:52:42 |
{"mesh": ["D016766"], "wikidata": ["Q9692"]}
|
Age-related hearing loss (also known as presbycusis) is a decrease in hearing ability that happens with age. In most cases, the hearing loss affects both ears. It can begin as early as a person's thirties or forties and worsens gradually over time.
Age-related hearing loss first affects the ability to hear high-frequency sounds, such as speech. Affected people find it increasingly difficult to understand what others are saying, particularly when there is background noise (such as at a party). However, because the hearing loss is gradual, many people do not realize they cannot hear as well as they used to. They may turn up the television volume or start speaking louder without being aware of it.
As the hearing loss worsens, it affects more frequencies of sound, making it difficult to hear more than just speech. Determining where a sound is coming from (localization) and identifying its source become more challenging. Some affected individuals also experience a ringing sensation in the ears (tinnitus) or dizziness and problems with balance (presbystasis).
Age-related hearing loss often impacts a person's quality of life. Because affected individuals have trouble understanding speech, the condition affects their ability to communicate. It can contribute to social isolation, depression, and loss of self-esteem. Age-related hearing loss also causes safety issues if individuals become unable to hear smoke alarms, car horns, and other sounds that alert people to dangerous situations.
## Frequency
Age-related hearing loss is one of the most common health conditions affecting older adults. Tens of millions of people worldwide are affected. In the United States, an estimated one-third of people over age 65, and half of those over 85, have some hearing loss.
## Causes
The causes of age-related hearing loss are complex. This condition results from a combination of genetic, environmental, and lifestyle factors, many of which have not been identified. Age-related hearing loss is most commonly associated with changes in the inner ear, where sound waves are converted to nerve impulses that are sent to the brain. However, it can also be associated with nerve pathways that carry sound information in the brain or changes in the eardrum or in the small bones in the middle ear. In most cases, the exact cause of these changes is unknown.
Inherited variations in multiple genes likely influence whether age-related hearing loss occurs, the age at which it begins, and its severity. Some of these genes are important for the normal structure or function of the inner ear. Mutations in a subset of these genes also cause forms of nonsyndromic hearing loss that begin earlier in life. Other genes that have been studied in people with age-related hearing loss play roles in aging and other age-related diseases. It is unclear how variations in these genes contribute to age-related hearing loss.
Among the best-studied genetic factors associated with age-related hearing loss are changes in mitochondrial DNA (mtDNA). Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. As people age, mtDNA accumulates damaging mutations, including deletions and other changes. This damage results from a buildup of harmful molecules called reactive oxygen species, which are byproducts of energy production in mitochondria. Damage to mtDNA causes cells to malfunction and ultimately to die. Cells that have high energy demands, such as those in the inner ear that are critical for hearing, are particularly sensitive to the effects of mtDNA damage. This damage can irreversibly alter the function of the inner ear, leading to hearing loss.
Environmental and lifestyle factors also contribute to age-related hearing loss. These factors include long-term exposure to loud noise (particularly through earphones at high volume), smoking, and exposure to heavy metals such as mercury or lead. In addition, certain medications (such as some antibiotics and chemotherapy drugs) can damage cells in the inner ear that are necessary for hearing. For reasons that are not fully understood, some health conditions that are common in older people, including heart disease and diabetes, also influence age-related hearing loss. Nutritional factors (for example, a shortage of certain vitamins or minerals) may also play a role, although the exact relationship between diet and hearing is unclear.
### Learn more about the genes and chromosome associated with Age-related hearing loss
* APOE
* CDH23
* KCNQ4
* MTHFR
* MYO7A
* SLC26A4
* mitochondrial dna
Additional Information from NCBI Gene:
* EDN1
* ESRRG
* GIPC3
* GRHL2
* GRM7
* GRM8
* MYO6
* NAT2
* UCP2
## Inheritance Pattern
Age-related hearing loss typically does not have a clear pattern of inheritance, although many affected individuals report a family history of the condition. Studies suggest that people who have close relatives with severe age-related hearing loss have an increased risk of developing severe hearing loss themselves as they age. However, it can be difficult to tell whether age-related hearing loss is inherited in a family because the condition is so common in the general population.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Age-related hearing loss
|
c2676230
| 25,209 |
medlineplus
|
https://medlineplus.gov/genetics/condition/age-related-hearing-loss/
| 2021-01-27T08:25:37 |
{"mesh": ["C567305"], "omim": ["612448", "612976"], "synonyms": []}
|
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, and rapid heartbeat upon standing. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.
About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Signs of cirrhosis include a swollen abdomen, swollen feet or legs, and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma.
In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.
## Frequency
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma.
## Causes
Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.
Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ.
Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency.
### Learn more about the gene associated with Alpha-1 antitrypsin deficiency
* SERPINA1
## Inheritance Pattern
This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait.
The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. Most people in the general population have two copies of the M allele (MM) in each cell. Other versions of the SERPINA1 gene lead to reduced levels of alpha-1 antitrypsin. For example, the S allele produces moderately low levels of this protein, and the Z allele produces very little alpha-1 antitrypsin. Individuals with two copies of the Z allele (ZZ) in each cell are likely to have alpha-1 antitrypsin deficiency. Those with the SZ combination have an increased risk of developing lung diseases (such as emphysema), particularly if they smoke.
Worldwide, it is estimated that 161 million people have one copy of the S or Z allele and one copy of the M allele in each cell (MS or MZ). Individuals with an MS (or SS) combination usually produce enough alpha-1 antitrypsin to protect the lungs. People with MZ alleles, however, have a slightly increased risk of impaired lung or liver function.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Alpha-1 antitrypsin deficiency
|
c0221757
| 25,210 |
medlineplus
|
https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/
| 2021-01-27T08:25:43 |
{"gard": ["5784"], "mesh": ["D019896"], "omim": ["613490"], "synonyms": []}
|
A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
## Epidemiology
Congenital TTP is much less common than the immune-mediated form of the disease (immune-mediated TTP), accounting for up to only 5% of all TTP cases. Up until 2017, 123 cases had been reported by the International Hereditary Thrombotic Thrombocytopenic Purpura Registry. The annual incidence is estimated at less than 1/1,000,000.
## Clinical description
The majority of patients present during the neonatal period or during childhood but the clinical manifestations are highly variable with mild manifestations of isolated thrombocytopenia throughout childhood in some, and severe neonatal hyperbilirubinemia with episodes of thrombocytopenia and MAHA developing soon after birth in others. In addition, onset may also occur during adulthood, particularly in women when the initial episode of overt TTP is triggered by the first pregnancy. Infections and vaccinations are also precipitating factors. The clinical course in congenital TTP is characterized typically by more long term relapses than in the immune-mediated form (iTTP), with around 50% of congenital TTP patients developing chronic, frequently relapsing disease. As in immune-mediated TTP, patients may also develop neurological anomalies, renal manifestations, cardiac dysfunction and gastrointestinal symptoms due to widespread microvascular thrombosis.
## Etiology
Congenital TTP is caused by a mutation in the ADAMTS13 gene (9q34), encoding ADAMTS13, a metalloprotease involved in the cleavage of ultra-large von Willebrand factor multimers with a penetrance of over 90%. Mutations are mainly compound heterozygous and less commonly homozygous, which explains the varied age of onset and severity/frequency of episodes seen in patients with congenital TTP.
## Diagnostic methods
A diagnosis of TTP should be considered in all patients with thrombocytopenia and microangiopathic hemolytic anemia. A positive familial history, laboratory studies (revealing schistocytes on peripheral blood smears, high serum lactate dehydrogenase levels, low platelet counts and reticulocytosis) and a severe ADAMTS13 deficiency (< 10% of normal values), in the absence of anti-ADAMTS13 antibodies, suggests a diagnosis of congenital TTP. Diagnosis is confirmed by molecular analysis revealing a double heterozygous or homozygous mutation in the ADAMTS13 gene.
## Differential diagnosis
In pregnant patients, congenital TTP needs to be distinguished from iTTP, atypical hemolytic-uremic syndrome and HELLP syndrome.
## Genetic counseling
Congenital TTP is transmitted in an autosomal recessive manner. Genetic counseling should be provided to affected families. Women diagnosed with congenital TTP should also receive pregnancy counseling in order to inform them of the major risk of TTP exacerbations and to allow for the timely planning of a management strategy (from conception to post-partum period), which mainly includes a prophylactic plasmatherapy. Screening of siblings for ADAMTS13 activity is also recommended.
## Management and treatment
Acute episodes in congenital TTP can be treated by plasma infusion (10-15 ml/kg/day until remission) but exchange transfusion is usually required in newborns. Patients with a chronic relapsing disease course may be considered for prophylactic plasma therapy. Regular plasma infusions to maintain ADAMTS13 activity level around 15% are required during pregnancy, in addition to close clinical and biological monitoring by a reference center. During the third trimester, therapeutic plasma exchanges may be required to prevent fluid overload.
## Prognosis
In the absence of treatment, TTP is a rapidly fatal disease (mortality rate > 90%). The introduction of therapeutic plasma exchange and plasma infusion has led to a decrease in the mortality rate to around 15%. Plasmatherapy also prevents long term organ complications due to chronic relapses.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 thrombotic thrombocytopenic purpura
|
c1268935
| 25,211 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93583
| 2021-01-23T18:39:44 |
{"gard": ["9430"], "mesh": ["D011697"], "omim": ["274150"], "umls": ["C1268935"], "icd-10": ["M31.1"], "synonyms": ["Congenital ADAMTS-13 deficiency", "Congenital TTP", "Familial TTP", "Upshaw-Schulman syndrome"]}
|
A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
## Epidemiology
Behçet disease (BD) is most often reported in populations along the Silk Road, with highest prevalence reported in Turkey at >1/1,000, versus 1/10,000 in Japan. European cases are more often described in Mediterranean countries.
## Clinical description
Onset most commonly occurs in adults (mean 30 years of age), but pediatric cases have been reported. Relapsing episodes of round oral aphthae with sharp erythematous and elevated borders (1-3 cm diameter) may be accompanied by genital aphthae (>50% of cases); cutaneous features may include pseudo-folliculitis and erythema nodosum. Ocular disorders (posterior uveitis, retinal vasculitis) occur in over 50% of BD patients. Arthralgia and/or non-erosive, asymmetric, arthritis affecting mainly large articulation (knees, ankles ect.) are frequent (45%) and can occur as an initial symptom. Vasculitis in BD is more frequent in the venous system where thromboses in femoro-iliac, superior and inferior vena cava and cerebral territories may occur. Rarer arterial thromboses and aneurysms primarily affect the pulmonary and aorta vessels. Neurological manifestations (neuro-BD) are frequent (>20%), and may include headache, fever, pyramidal signs with hemiparesis, cranial nerve damage, meningitis, behavioral changes and sphincter dysfunction. Aphthoid and/or ulcerative lesions may affect the whole digestive tract but mainly the ileo-caecum and ascending colon, potentially leading to hemorrhages and perforations.
## Etiology
Of unknown origin, genetic predisposition in BD may allow certain infectious (in particular Streptococcus sanguis) and/or environmental insults to trigger symptoms involving sporadic inflammatory attacks reminiscent of auto-inflammatory disorders due to cross reactions with oral mucosa antigens. HLAB5101 antigen is associated to BD in 50-60% of patients. NF-kB activation and aberrant cytokine levels (eg- IL-6, TNF-a, IL-8, IL-12, IL-17 and IL-21) have been implicated in the pathogenesis of BD. A familial, autosomal dominant form of BD, A20 haploinsufficiency, is linked to mutations in TNFAIP3(6q23.3).
## Diagnostic methods
The diagnosis of BD is essentially clinical and is based on the international classification criteria, which are sensitive and specific. The presence of recurrent oral ulceration (at least 3 times over 12 months; 2 points), genital ulceration (2 points), uveitis (2 points), skin lesions (1 point), cardiovascular (1 point), neurologic (1 point) and/or pathergy reaction (1 point). Behçet disease is retained with 4 or more points. Other elements may contribute to the diagnosis. Isolated severe visceral involvement (e.g. vena cava, cerebral and/or subhepatic vein thrombosis, pulmonary aneurysms, neurological involvement and/or retinal vasculitis) can be inaugural and should evoke BD; therefore, systematic request of an expert opinion is recommended. A family history of BD also increases the probability of diagnosis. Searching for the HLA-B51 haplotype is not a strong diagnostic element, but can be useful in situations of diagnostic uncertainty.
## Differential diagnosis
Differential diagnosis depends on upon the manifestations, herpes ulcerations, spondylo-arthropathies, infectious uveitis, relapsing polychondritis, sarcoidosis, antiphospholipid syndrome, Takayasu arteritis, Crohn's disease, infectious meningo-encephalitis or multiple sclerosis may be considered.
## Management and treatment
Anti-inflammatory steroids are the basis of treatment; however, corticodependance and relapses may occur upon discontinuation. Concurrent administration of immunosuppresive drugs (e.g. azathioprine, cyclophosphamide, methotrexate or mycophenolate mofetil), are also prescribed but their action is delayed. Anti-TNF and alpha-interferon (2a or 2b) are efficient, particularly in severe uveitis, and antiplatelet or anticoagulation treatments are discussed in case of vascular thrombosis. Colchicine relieves mucocutaneous symptoms. Apremilast has been recently approved in refractory oral ulceration of BD. Efficacy is dependent upon rapid initiation and patient compliance.
## Prognosis
In the absence of treatment, the prognosis is severe due to ocular involvement leading potentially to blindness, the risk of lethal arterial rupture, large vessel thrombosis and neurological symptoms potentially causing encephalopathy or cerebral hypertension that may lead to a loss of autonomy. Intensive care coupled with close multidisciplinary follow-up, and adapted immunosuppressive treatment has been shown to reduce morbidity and mortality.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Behçet disease
|
c0004943
| 25,212 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=117
| 2021-01-23T19:05:32 |
{"gard": ["848"], "mesh": ["D001528"], "omim": ["109650"], "umls": ["C0004943"], "icd-10": ["M35.2"]}
|
Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Odontomicronychial dysplasia
|
c1832473
| 25,213 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1811
| 2021-01-23T18:17:35 |
{"gard": ["4053"], "mesh": ["C537741"], "omim": ["601319"], "umls": ["C1832473"]}
|
A genetic neurodegenerative disease with brain iron accumulation
Pantothenate kinase-associated neurodegeneration
Other namesNeurodegeneration with brain iron accumulation 1
Pantetheine
SpecialtyNeurology
SymptomsDystonia, parkinsonism, dementia
Usual onsetUnder 10 years (classical), Over 10 years (atypical)
TypesClassical, atypical
CausesPANK2 mutation
Frequency1–3 per 1 million people
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome,[1] is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 3.1 Neuropathology
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
* 9 External links
## Signs and symptoms[edit]
Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood. Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Symptoms include:[citation needed]
* dystonia (repetitive uncontrollable muscle contractions that may cause jerking or twisting of certain muscle groups)
* dysphagia & dysarthria due to muscle groups involved in speech being involved
* rigidity/stiffness of limbs
* tremor
* writhing movements
* dementia
* spasticity
* weakness
* seizures (rare)
* toe walking
* retinitis pigmentosa, another degenerative disease that affects the individual's retina, often causing alteration of retinal color and progressive deterioration of the retina at first causing night blindness and later resulting in a complete loss of vision.
25% of individuals experience an uncharacteristic form of PKAN that develops post-10 years of age and follows a slower, more gradual pace of deterioration than those pre-10 years of age. These individuals face significant speech deficits as well as psychiatric and behavioral disturbances.[citation needed]
Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Death occurs prematurely due to infections such as pneumonia, and the disease in itself is technically not life limiting.[citation needed]
## Genetics[edit]
PKAN is an autosomal recessive disorder. Both the parents of an afflicted child must be heterozygous carriers for the disease and therefore must carry one mutant allele. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous individuals do develop the classic form of the disease.[2][3]
The disorder is caused by a mutant PANK2 gene located at the chromosomal locus: 20p13-p12.3. PANK2 is responsible for coding the protein Pantothenate kinase 2\. PANK2 encodes the enzyme pantothenate kinase, and mutations in the gene lead to an inborn error of vitamin B5 (pantothenate) metabolism. Vitamin B5 is required for the production of coenzyme A in cells. Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in the brain, including iron.[citation needed]
PANK2 encodes a 1.85Kb transcript which is derived from seven exons covering a total distance of approximately 3.5Mb of genomic DNA. The PANK2 gene also encodes a 50.5-kDaprotein that is a functional pantothenate kinase, an essential regulatory enzyme in coenzyme A (CoA) biosynthesis, and catalyzing the phosphorylation of pantothenate (vitamin B5), N-pantothenoyl-cysteine, and pantetheine (OMIM).
Mutant PANK2 gene coded proteins are often caused by null or missense mutations most notably a 7bp deletion in the PANK2 gene coding sequence.[citation needed]
This disorder has been reported in specific communities based on intra-community marriages where both parents of the child are carrying the same mutation. One of the communities reported is Agrawal (Agarwal) Community mainly based in Northern Part of India. The known mutation in Agarwal community is pathogenic mutation 1c.215_216insA in PANK2 gene. This is also coded as chr20:3870292-3870293insA by some labs. It results in a frameshift and premature truncation of the protein 47 amino acids downstream to codon 183 (p.Arg183GlufsTer47; ENST00000316562).[4][5]
## Diagnosis[edit]
MRI image shows iron deposits in the basal ganglia, the so-called eye-of-the-tiger sign (T2w GRASE sequence).
A neurological examination would show evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. If other family members are also affected, this may help determine the diagnosis. Genetic tests can confirm an abnormal gene causing the disease. However, this test is not yet widely available. Other movement disorders and diseases must be ruled out. Individuals exhibiting any of the above listed symptoms are often tested using MRI (Magnetic Resonance Imaging) for a number of neuro-related disorders. An MRI usually shows iron deposits in the basal ganglia. Development of diagnostic criteria continues in the hope of further separating PKAN from other forms of neurodegenerative diseases featuring NBIA.[citation needed]
### Neuropathology[edit]
Microscopic features of PKAN include high levels of iron in the globus pallidus and the pars reticulata of substantia nigra, evident as a characteristic rust-brown discoloration[6] in a pattern called the eye-of-the-tiger sign;[7] lipofuscin and neuromelanin concentrated in the iron-accumulating areas; oval, nonnucleated structures representing swollen axons whose cytoplasm swells with vacuoles, referred to as spheroids, axon schollen, or neuroaxonal dystrophy; and Lewy bodies.[6]
## Treatment[edit]
Phosphopantothenate has been shown to treat PKAN in a human, and also in a mouse model of the disease. Pantethine (a precursor of pantetheine) has been studied and shown to be effective in a mouse and in a fruit fly model of the disease.[8][9][10][11]
## Prognosis[edit]
Survival rates for those diagnosed with typical PKAN, and left untreated is 11.18 years with a standard deviation of 7.8 years. A study reporting good outcomes in a single patient with late onset PKAN has been performed.[10]
## Epidemiology[edit]
Prevalence data regarding this disorder remains incomplete, however it is estimated that anywhere between 1 in 1,000,000 to 3 in 1,000,000 individuals will be afflicted with this disorder (based upon observed cases in a population), but once again this is only an estimate as the disease is so rare it is difficult to statistically and accurately ascertain.[citation needed]
## History[edit]
PKAN was first described by Hallervorden and Spatz (1922). Their discovery was brought about by a diagnosis of a family of 12 in which five sisters exhibited progressively increasing dementia and dysarthria. Autopsies revealed brown discolorations in different areas of the brain (particularly of interest were the globus pallidus and substantia nigra regions). Further investigation and description was brought about by Meyer (1958) who diagnosed 30 separate cases of PKAN. Meyer(1958) was followed by Elejalde et al. (1978) who described 5 affected family members and hypothesized that the disorder originated in central Europe, backing up his hypothesis with clinical and genetic analysis. Further investigation and insights were provided by Malmstrom-Groth and Kristensson (1982)[12] and Jankovic et al. (1985).[13]
Diagnosis of PKAN hit a milestone with the availability of MRIs, as well as the in-depth descriptions of those MRIs provided by Littrup and Gebarski (1985),[14] Tanfani et al. (1987),[15] Sethi et al. (1988),[16] Angelini et al. (1992),[17] Casteels et al. (1994),[18] and Malandrini et al. (1995).[19] The gene was localized to chromosome 20p by Taylor et al. (1996) [20] who suggested that this disorder should be referred to as neurodegeneration with brain iron accumulation (NBIA1) to avoid the objectionable eponym[21] of Hallervorden-Spatz. The disease was renamed 'pantothenate kinase-associated neurodegeneration' or PKAN by Zhou et al. (2001)[2] who suggested the name to avoid misinterpretation and to better reflect the true nature of the disorder. Most recently Pellecchia et al. (2005) published a report of 16 patients afflicted with PKAN, confirmed by genetic analysis.[22]
## References[edit]
1. ^ Harper, Peter S (1996). "Naming of syndromes and unethical activities: the case of Hallervorden and Spatz". The Lancet. 348 (9036): 1224–1225. doi:10.1016/S0140-6736(96)05222-1. ISSN 0140-6736.
2. ^ a b Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594.
3. ^ Bei-sha, Tang; et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
4. ^ "PANK2_Agarwal".
5. ^ http://www.britannica.com/bps/additionalcontent/18/27764296/Founder-mutation-in-the-PANK-gene-of-Agrawal-children-with-Neurodegeneration-with-Brain-Iron-accumulation-NBIA
6. ^ a b Hanna, Philip A. "Pantothenate Kinase-Associated Neurodegeneration (PKAN)". Medscape. Retrieved 6 March 2020.
7. ^ "Pantothenate kinase-associated neurodegeneration". Genetics Home Reference. National Institutes of Health National Library of Medicine. Retrieved 6 March 2020.
8. ^ Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V (2014). "Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model". Brain. 137 (Pt 1): 57–68. doi:10.1093/brain/awt325. PMC 3891449. PMID 24316510.
9. ^ Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, van der Want JJ, Hayflick S, Reijngoud DJ, Kayser O, Sibon OC (2010). "Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration". Proc Natl Acad Sci U S A. 107 (15): 6988–93. Bibcode:2010PNAS..107.6988R. doi:10.1073/pnas.0912105107. PMC 2872433. PMID 20351285.
10. ^ a b Christou YP, Tanteles GA, Kkolou E, Ormiston A, Konstantopoulos K, Beconi M, Marshall RD, Plotkin H, Kleopa KA (2017). "Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN". Case Rep Neurol Med. 2017: 3247034. doi:10.1155/2017/3247034. PMC 5439260. PMID 28567317.
11. ^ Zano SP, Pate C, Frank M, Rock CO, Jackowski S (2015). "Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy". Mol Genet Metab. 116 (4): 281–8. doi:10.1016/j.ymgme.2015.10.011. PMC 4764103. PMID 26549575.
12. ^ Malmström-Groth AG, Kristensson K (1982). "Neuroaxonal dystrophy in childhood. Report of two second cousins with PKAN, and a case of Seitelberger's disease". Acta Paediatrica Scandinavica. 71 (6): 1045–9. doi:10.1111/j.1651-2227.1982.tb09574.x. PMID 7158329.
13. ^ Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (February 1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
14. ^ Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
15. ^ Tanfani G, Mascalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C (1987). "MR imaging in a case of Hallervorden-Spatz disease". Journal of Computer Assisted Tomography. 11 (6): 1057–8. doi:10.1097/00004728-198711000-00027. PMID 3680689.
16. ^ Sethi KD, Adams RJ, Loring DW, el Gammal T (1988). "Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations". Ann. Neurol. 24 (5): 692–4. doi:10.1002/ana.410240519. PMID 3202617.
17. ^ Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M (1992). "Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life". J. Neurol. 239 (8): 417–25. doi:10.1007/BF00856805. PMID 1447570.
18. ^ Casteels I, Spileers W, Swinnen T, et al. (1994). "Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome". Neuropediatrics. 25 (5): 265–7. doi:10.1055/s-2008-1073034. PMID 7885538.
19. ^ Malandrini A, Bonuccelli U, Parrotta E, Ceravolo R, Berti G, Guazzi GC (1995). "Myopathic involvement in two cases of Hallervorden-Spatz disease". Brain Dev. 17 (4): 286–90. doi:10.1016/0387-7604(95)00039-E. PMID 7503394.
20. ^ Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (1996). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat. Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032.
21. ^ Julius Hallervorden and Hugo Spatz were members of the Nazi party and had used executed political prisoners in medical research
22. ^ Pellecchia MT, Valente EM, Cif L, et al. (2005). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822.
## External links[edit]
Classification
D
* ICD-10: G23.0
* ICD-9-CM: 333.0
* OMIM: 234200
* MeSH: D006211
* DiseasesDB: 29462
External resources
* MedlinePlus: 001225
* eMedicine: neuro/151
* GeneReviews: Pantothenate Kinase-Associated Neurodegeneration
* 02041 at CHORUS
* synd/1082 at Who Named It?
* nbia at NINDS
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic
Brain and spinal cord
* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis
Brain/
encephalopathy
Degenerative
Extrapyramidal and
movement disorders
* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA
* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia
* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person
Dementia
* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS
Episodic/
paroxysmal
Seizures and epilepsy
* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache
Cerebrovascular
* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases
Other
* Sleep disorders
* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension
Other
* Brain herniation
* Reye syndrome
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* Toxic encephalopathy
* Hashimoto's encephalopathy
Both/either
Degenerative
SA
* Friedreich's ataxia
* Ataxia–telangiectasia
MND
* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia
* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
* v
* t
* e
Metabolic disorders of vitamins, coenzymes, and cofactors
B7 Biotin/MCD
* Biotinidase deficiency
* Holocarboxylase synthetase deficiency
Other B
* B5 (Pantothenate kinase-associated neurodegeneration)
* B12 (Methylmalonic acidemia)
Other vitamin
* Familial isolated vitamin E deficiency
Nonvitamin cofactor
* Tetrahydrobiopterin deficiency
* Molybdenum cofactor deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pantothenate kinase-associated neurodegeneration
|
c0018523
| 25,214 |
wikipedia
|
https://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration
| 2021-01-18T18:53:27 |
{"gard": ["6564"], "mesh": ["D006211"], "umls": ["C0018523"], "icd-9": ["333.0"], "orphanet": ["157850"], "wikidata": ["Q1436162"]}
|
In 4 of 5 brothers, Agosti et al. (1974) observed chronic respiratory distress in early infancy and showed in one that it was due to bronchial flaccidity. Because of the bronchomalacia, first and second generation bronchi almost collapsed during expiration. Air trapping and respiratory distress simulated bronchial asthma. The parents were not known to be related but had the same surname and originated from the same small village in Italy. Wayne and Taussig (1976) described 2 sibs with respiratory symptoms dating from birth and subsequently demonstrated bronchiectasis. They postulated absence of bronchial cartilage.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
BRONCHOMALACIA
|
c0264353
| 25,215 |
omim
|
https://www.omim.org/entry/211450
| 2019-09-22T16:30:19 |
{"mesh": ["D055091"], "omim": ["211450"], "synonyms": ["Alternative titles", "WILLIAMS-CAMPBELL SYNDROME"]}
|
Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought 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
|
Zellweger-like syndrome without peroxisomal anomalies
|
None
| 25,216 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50812
| 2021-01-23T18:05:05 |
{"icd-10": ["Q87.8"], "synonyms": ["Ahn-Lerman-Sagie syndrome"]}
|
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: "Lower motor neuron lesion" – news · newspapers · books · scholar · JSTOR (October 2019) (Learn how and when to remove this template message)
Lower motor neuron lesion
Lower motor neuron in red
A lower motor neuron lesion is a lesion which affects nerve fibers traveling from the lower motor neuron(s) in the anterior horn/anterior grey column of the spinal cord, or in the motor nuclei of the cranial nerves, to the relevant muscle(s).[1]
One major characteristic used to identify a lower motor neuron lesion is flaccid paralysis – paralysis accompanied by loss of muscle tone. This is in contrast to an upper motor neuron lesion, which often presents with spastic paralysis – paralysis accompanied by severe hypertonia.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 See also
* 5 References
* 6 External links
## Signs and symptoms[edit]
* Muscle paresis or paralysis
* Fibrillations
* Fasciculations – caused by increased receptor concentration on muscles to compensate for lack of innervation.
* Hypotonia or atonia – Tone is not velocity dependent.
* Hyporeflexia \- Along with deep reflexes even cutaneous reflexes are also decreased or absent.
* Strength – weakness is limited to segmental or focal pattern, Root innervated pattern[clarification needed]
The extensor plantar reflex is usually absent. Muscle paresis/paralysis, hypotonia/atonia, and hyporeflexia/areflexia are usually seen immediately following an insult. Muscle wasting, fasciculations and fibrillations are typically signs of end-stage muscle denervation and are seen over a longer time period. Another feature is the segmentation of symptoms – only muscles innervated by the damaged nerves will be symptomatic.
## Causes[edit]
The most common causes of lower motor neuron injuries are trauma to peripheral nerves that serve the axons, and viruses that selectively attack ventral horn cells. Disuse atrophy of the muscle occurs i.e., shrinkage of muscle fibre finally replaced by fibrous tissue (fibrous muscle) Other causes include Guillain–Barré syndrome, C. botulism, polio, and cauda equina syndrome; another common cause of lower motor neuron degeneration is amyotrophic lateral sclerosis.
## Diagnosis[edit]
### Differential diagnosis[edit]
* Myasthenia gravis – synaptic transmission at motor end-plate is impaired
* Amyotrophic lateral sclerosis – causes death of motor neurons, although exact cause is unknown it has been suggested that abnormal build-up of proteins proves toxic for the neurons.
## See also[edit]
* Lower motor neuron
* Upper motor neuron
* Upper motor neuron lesion
## References[edit]
1. ^ James D. Fix (1 October 2007). Neuroanatomy. Lippincott Williams & Wilkins. pp. 120–. ISBN 978-0-7817-7245-7. Retrieved 17 November 2010.
## External links[edit]
Classification
D
* DiseasesDB: 22143
* http://library.med.utah.edu/neurologicexam/html/motor_anatomy.html#06
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lower motor neuron lesion
|
None
| 25,217 |
wikipedia
|
https://en.wikipedia.org/wiki/Lower_motor_neuron_lesion
| 2021-01-18T19:06:55 |
{"wikidata": ["Q4919379"]}
|
Kabuki syndrome
Other namesNiikawa–Kuroki syndrome
A child with kabuki syndrome displaying the “scrunchy face”
SpecialtyMedical genetics
SymptomsVary widely among patients but may include: Long eyelashes, depressed nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias or horseshoe kidney), gi anomalies (e.g. anal atresia or intestinal malformation), hearing loss, immune deficiencies (e.g. hypogammaglobinemia), feeding difficulty (infants), obesity (adulthood), short stature, poor sleep, hyperinsulinemia (hypoglycemia), epilepsy, cardiac defects (e.g. coarctation of the aorta), vertebral anamolies (e.g. butterfly vertebrae), sparse lateral eyelash, finger anomaly (e.g. short 5th finger), cleft palate, dental issues, precocious puberty, scoliosis, hip dysplasia
Usual onsetConception
TypesType 1 (KMT2D), type 2 (KDM6A); other rare mutations unrecognized for now
CausesLoss-of-function mutations in KMT2D or KDM6A genes
Diagnostic methodClinical findings; genetic testing
Frequency1 in 32,000 births
Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin.[1][2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.[3]
It is quite rare, affecting roughly one in 32,000 births.[4] It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki.[5] It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.[4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Screening
* 6 Management
* 7 Prognosis
* 8 Epidemiology
* 9 Research
* 10 History
* 11 Gallery
* 12 References
* 13 External links
## Signs and symptoms[edit]
Child displaying typical facial phenotype of Kabuki syndrome
Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals.[3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.[3][4]
Child displaying elongated eyelids typical of Kabuki syndrome
Child displaying distinctive facial features of Kabuki syndrome
Other common symptoms are skeletal abnormalities, short stature, heart defects, feeding difficulties and a failure to thrive, vision and hearing difficulties, weak muscle tone (hypotonia), small head size (microcephaly), and frequent infections.[3]
Mild to moderate intellectual disability and mild to severe developmental delay are often associated with Kabuki syndrome.[3][4][6] Infants and young children often experience difficulties relating to hypotonia, feeding issues/failure to thrive, infections, surgical repair of heart and palate defects and developmental delays.[citation needed]
Young children with Kabuki syndrome benefit from early intervention services. School age children tend to have fewer medical issues requiring hospitalization, though frequent infections, hearing loss and feeding issues occur. In addition, intellectual impairment, difficulty with visuospatial tasks and maintaining attention usually require an IEP (individualized education plan) if the child attends public school. Older children and adults report difficulties with anxiety. Endocrine abnormalities and immune system abnormalities such as ITP (idiopathic thrombocytopenia) and CVID (common variable immune deficiency) are medical issues that tend to present in older children, adolescents and adults.[7]
## Causes[edit]
Kabuki syndrome is one of the Mendelian disorders of epigenetic machinery.[8] Most cases of Kabuki syndrome occur de novo, that is, the parents are unaffected and the gene was mutated early in embryological development. It is classified as a Mendelian disorder because individuals who have a de novo mutation in a specific gene pass the mutation to offspring according to the laws of Mendelian inheritance. There are two known genes that cause Kabuki syndrome: KMT2D and KDM6A.[9] However, about 30% of cases have no identifiable causative mutation.[4]
It is estimated that between 55-80% of cases of Kabuki syndrome are caused by mutations in the KMT2D gene, formerly known as the MLL2 gene.[4] This gene is located on chromosome 12.[4][9] A mutation in the KMT2D gene results in a non functional lysine (K)-specific methyltransferase 2D enzyme[4] and demonstrates an autosomal dominant pattern of inheritance. Another 2-6% of cases are related to mutations in the KDM6A gene, located on the X chromosome.[4] This mutation produces a nonfunctional lysine (K)-specific demethylase 6A enzyme and demonstrates an X-linked dominant pattern of inheritance.[citation needed]
## Pathophysiology[edit]
The KMT2D and KDM6A genes belong to a family of genes called chromatin-modifying enzymes. Specifically, these genes code for a histone methyltransferase (KMT2D) and a histone demethylase (KDM6A), and play a part in the regulation of gene expression.[10] Under normal circumstances, these enzymes transfer methyl groups on and off histones to regulate genes via epigenetic pathways. When the genes that encode these enzymes are mutated, epigenetic activation of certain developmental genes is impaired and developmental abnormalities occur, leading to the characteristics of Kabuki syndrome patients.[10] The specific developmental genes that are affected by the impaired epigenetic mechanisms in Kabuki syndrome are not yet fully known.[10]
There are hundreds of different mutations that have been identified in Kabuki syndrome patients. Most of these mutations are in the KMT2D gene and involve a change in amino acid sequence that creates a shortened and nonfunctional chromatin-modifying enzyme.[11]
## Diagnosis[edit]
A consensus on clinical diagnostic criteria for Kabuki syndrome (KS) was defined in December 2018 by an international group of experts.[12] The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, were included in the publication.[12]
The original description of Kabuki syndrome by Niikawa et al.[13] defined five cardinal manifestations, although some of these “cardinal manifestations” may or may not be present in a patient with Kabuki syndrome.
1. Typical facial features: Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying sparseness or notching; short columella with depressed nasal tip; large, prominent, or cupped ears[13][14][15][16][17]
2. Skeletal anomalies: Spinal column abnormalities, including sagittal cleft vertebrae, butterfly vertebrae, narrow intervertebral disc space, and/or scoliosis, Brachydactyly V Brachymesophalangy Clinodactyly of fifth digits
3. Dermatoglyphic abnormalities: persistence of fetal fingertip pads
4. Mild to moderate intellectual disability
5. Postnatal growth deficiency
Kabuki syndrome is diagnosed clinically (through identifying symptoms, physical exams, and lab results), most commonly by a geneticist. Alternatively, it may be discovered using genetic testing (whole exome or whole genome sequencing).[3]
Diagnosis can be difficult given the large spectrum of disease. The fact that some patients do not carry one of the two known mutations or can carry multiple mutations complicates the diagnosis further.[citation needed]
## Screening[edit]
Due to its rarity, Kabuki syndrome is not screened for in routine prenatal testing including blood tests, chorionic villus sampling (CVS), or amniocentesis. Although not routine for the general population, if Kabuki syndrome is a specific concern (i.e. expectant mother who has been diagnosed with Kabuki syndrome or sibling with KS), it is possible to test for one of the specific mutations.[4] This prenatal testing does require a CVS or amniocentesis. However Kabuki syndrome is usually not inherited and therefore most cases do not have a positive family history.[3][4] Kabuki syndrome can have positive screening tests, such as cystic hygroma seen on nuchal translucency ultrasound screening, although these findings are non-specific and have a wide differential diagnosis.[18][19]
## Management[edit]
Newly diagnosed patients with Kabuki syndrome will often undergo tests that are aimed at detecting common abnormalities associated with the syndrome. They include an echocardiogram (ultrasound of the heart) for detection of structural heart defects, kidney ultrasound for detection of structural renal abnormalities, immunoglobulin levels, pneumococcal titers and a hearing screening test.Further evaluation and testing by specialists may be indicated in addition to cardiology, nephrology, allergy/immunology, audiology-mentioned above. This may include orthopedics (such as hip dysplasia), pulmonary (sleep study to rule out obstructive sleep apnea due to hypotonia), ophthalmology evaluation (vision screen), ENT evaluation (hearing evaluation), Neurology evaluation (i.e. if seizures present), Hematology evaluation (if bleeding disorder), GI evaluation (if gi abnormalities), or others as needed.
There is no specific treatment for Kabuki syndrome. Treatment plans are customized to address the symptoms the individual is experiencing.[10] For example, someone experiencing seizures will be treated with the standard anti-epilepsy therapies.[10] Additionally, patients with Kabuki syndrome are routinely evaluated and monitored to address problems that may develop, such as vision or hearing problems, or cognitive difficulties.[10] If congenital heart disease is present, prophylactic antibiotics may be recommended before any procedures such as dental work that might cause infection.[10]
## Prognosis[edit]
The life expectancy of individuals with Kabuki syndrome is not shortened by the syndrome in most cases. Some patients have coexisting conditions which may shorten life expectancy, such as hypoplastic left heart syndrome or kidney dysfunction. It is important that patients with cardiac, renal, or immunologic issues are identified and well-managed.[3]
## Epidemiology[edit]
Kabuki syndrome occurs about once in every 32,000 births.[4][13] The disease appears to affect all population groups equally, with no differences based on sex, race, or environment.[20]
## Research[edit]
Research on Kabuki syndrome is extremely limited due to its low incidence.[4] Despite this, several groups around the world are studying Kabuki syndrome. In the United States, these include the Epigenetics and Chromatin Clinic at Johns Hopkins University (led by Dr. Hans Bjornsson), The Roya Kabuki Program at Boston Children's Hospital, Dr. Mark Hannibal at the University of Michigan, groups at University of Colorado, University of Utah, University of South Florida and others.[21][22]
## History[edit]
In 1969, Norio Niikawa MD, a geneticist in Japan was treating a child patient presenting with unique facial characteristics and various health problems. Never having seen this constellation of symptoms before, Dr Niikawa wondered if he was faced with an undiagnosed condition, a disorder with a genetic basis. Over the next several years, this physician treated several other patients with the same symptoms in his outpatient genetics clinic, furthering support for a disorder never before diagnosed.[23]
In 1979, Dr Niikawa presented his findings and hypothesis at the first Japan Dysmorphology Conference. A fellow physician at this conference, Yoshikazu Kuroki, recognised the symptoms, and realised that he had also seen several paediatric patients with this presentation; he presented two of his own cases at the second annual conference the following year. In 1981, the two doctors separately submitted articles on this new diagnosis to the Journal of Pediatrics.[5][23][24]
Dr Niikawa coined the term ‘Kabuki syndrome’ (also known as Kabuki make-up syndrome or Niikawa–Kuroki syndrome) as a reference to traditional Japanese theatre which he respected greatly. Many of the children presenting with this diagnosis had unusual, elongated lower eyelids, and this feature was reminiscent of the theatrical make-up worn by actors in Kabuki theatre.[25][26]
As reported by Dr. Niikawa "The name, “Kabuki make-up”, of the syndrome was given by myself, because the facial appearance of patients, especially eversion of their lower eyelids, is reminiscent of the makeup of actors in Kabuki, the traditional form of Japanese theater. Kabuki was founded early in the 17th century in Japan and over the next 300 years developed into a sophisticated form of theater. Kabuki actors usually apply traditional makeup to strengthen their eyes, especially in a hero play, and they are very proud of their performing art."[27]
The individual kanji, from left to right, mean sing (歌), dance (舞), and skill (伎). Kabuki is therefore sometimes translated as "the art of singing and dancing".
## Gallery[edit]
Individuals with Kabuki syndrome
## References[edit]
1. ^ "Kabuki Syndrome Gene Identified". National Institutes of Health (NIH). 2015-05-20. Retrieved 2017-10-26.
2. ^ Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
3. ^ a b c d e f g h "Kabuki syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2018-04-01.
4. ^ a b c d e f g h i j k l m "Kabuki syndrome". Genetics Home Reference, U.S. National Library of Medicine. Retrieved 15 April 2018.
5. ^ a b Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (October 1981). "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation". The Journal of Pediatrics. 99 (4): 570–3. doi:10.1016/S0022-3476(81)80256-9. PMID 7277097.
6. ^ Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L (January 2005). "Developmental outcome in Kabuki syndrome". American Journal of Medical Genetics. Part A. 132A (3): 263–4. doi:10.1002/ajmg.a.30338. PMID 15523636. S2CID 32831210.
7. ^ Adam, Margaret P.; Hudgins, Louanne; Hannibal, Mark (2019-10-21). Kabuki Syndrome. University of Washington, Seattle. PMID 21882399.
8. ^ Bjornsson HT (October 2015). "The Mendelian disorders of the epigenetic machinery". Genome Research. 25 (10): 1473–81. doi:10.1101/gr.190629.115. PMC 4579332. PMID 26430157.
9. ^ a b Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY (June 2014). "Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome". Journal of Human Genetics. 59 (6): 321–5. doi:10.1038/jhg.2014.25. PMID 24739679. S2CID 24533876.
10. ^ a b c d e f g Adam MP, Hudgins L, Hannibal M (16 May 2013). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Kabuki Syndrome". GeneReviews [Internet]. PMID 21882399.
11. ^ Bögershausen N, Wollnik B (March 2013). "Unmasking Kabuki syndrome". Clinical Genetics. 83 (3): 201–11. doi:10.1111/cge.12051. PMID 23131014. S2CID 204999137.
12. ^ a b Adam, Margaret P.; Banka, Siddharth; Bjornsson, Hans T.; Bodamer, Olaf; Chudley, Albert E.; Harris, Jaqueline; Kawame, Hiroshi; Lanpher, Brendan C.; Lindsley, Andrew W. (2018-12-04). "Kabuki syndrome: international consensus diagnostic criteria". Journal of Medical Genetics. 56 (2): 89–95. doi:10.1136/jmedgenet-2018-105625. ISSN 1468-6244. PMID 30514738. S2CID 54484060.
13. ^ a b c Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (October 1981). "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of Pediatrics. 99 (4): 565–9. doi:10.1016/S0022-3476(81)80255-7. PMID 7277096.
14. ^ Wilson GN (September 1998). "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management". American Journal of Medical Genetics. 79 (2): 112–20. doi:10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S. PMID 9741469.
15. ^ Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, et al. (July 2011). "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome". American Journal of Medical Genetics. Part A. 155A (7): 1511–6. doi:10.1002/ajmg.a.34074. PMC 3121928. PMID 21671394.
16. ^ Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ (January 2005). "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management". American Journal of Medical Genetics. Part A. 132A (3): 234–43. doi:10.1002/ajmg.a.30331. PMID 15690368. S2CID 42186309.
17. ^ Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. (January 2005). "Further delineation of Kabuki syndrome in 48 well-defined new individuals". American Journal of Medical Genetics. Part A. 132A (3): 265–72. doi:10.1002/ajmg.a.30340. PMID 15690370. S2CID 27626946.
18. ^ Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA (December 2016). "Kabuki syndrome as a cause of non-immune fetal hydrops/ascites". American Journal of Medical Genetics. Part A. 170 (12): 3333–3337. doi:10.1002/ajmg.a.37956. PMID 27568880. S2CID 26914645.
19. ^ Lajeunesse C, Stadler A, Trombert B, Varlet MN, Patural H, Prieur F, Chêne G (June 2014). "[First-trimester cystic hygroma: prenatal diagnosis and fetal outcome]". Journal de Gynécologie, Obstétrique et Biologie de la Reproduction. 43 (6): 455–62. doi:10.1016/j.jgyn.2013.04.005. PMID 23747217.
20. ^ "Kabuki Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-04-20.
21. ^ "Kabuki Syndrome | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2018-04-24.
22. ^ Johns Hopkins Medicine (2015-10-07), #TomorrowsDiscoveries: Intellectual Disability Treatments — Dr. Hans Bjornsson, retrieved 2018-04-24
23. ^ a b Matsumoto, Naomichi; Niikawa, Norio (2003-01-30). "Kabuki make-up syndrome: A review". American Journal of Medical Genetics. 117C (1): 57–65. doi:10.1002/ajmg.c.10020. ISSN 0148-7299. PMID 12561059. S2CID 39599820.
24. ^ Niikawa, Norio; Matsuura, Nobuo; Fukushima, Yoshimitsu; Ohsawa, Tadashi; Kajii, Tadashi (October 1981). "Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of Pediatrics. 99 (4): 565–569. doi:10.1016/s0022-3476(81)80255-7. ISSN 0022-3476. PMID 7277096.
25. ^ Schrander-Stumpel, Constance Th.R.M.; Spruyt, Liesbeth; Curfs, Leopold M.G.; Defloor, Truus; Schrander, Jaap J.P. (2004-12-03). "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management". American Journal of Medical Genetics Part A. 132A (3): 234–243. doi:10.1002/ajmg.a.30331. ISSN 1552-4825. PMID 15690368. S2CID 42186309.
26. ^ Kasdon, Bethany D; Fox, Judith E (September 2012). "Kabuki syndrome: diagnostic and treatment considerations". Mental Health in Family Medicine. 9 (3): 171–179. ISSN 1756-834X. PMC 3622909. PMID 23997823.
27. ^ "Niikawa Presentation" (PDF).
## External links[edit]
Classification
D
* ICD-10: Q87.0
* ICD-9-CM: 759.89
* OMIM: 147920
* MeSH: C537705
* DiseasesDB: 32161
External resources
* GeneReviews: Kabuki Syndrome
* GARD: kabuki-syndrome
* Orphanet: 2322
Wikimedia Commons has media related to Kabuki syndrome.
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis
2.2
* Barakat syndrome
* Tricho–rhino–phalangeal syndrome
2.3
* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2
2.5
* Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains
3.1
* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome
3.2
* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3
3.3
* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Kabuki syndrome
|
c0796004
| 25,218 |
wikipedia
|
https://en.wikipedia.org/wiki/Kabuki_syndrome
| 2021-01-18T18:45:51 |
{"gard": ["6810"], "mesh": ["C537705"], "umls": ["C0796004"], "icd-9": ["759.89"], "orphanet": ["2322"], "wikidata": ["Q1538227"]}
|
Low sodium concentration in the blood
Hyponatremia
Other namesHyponatraemia, low blood sodium, hyponatræmia
Sodium
SpecialtyInternal medicine
SymptomsDecreased ability to think, headaches, nausea, poor balance, confusion, seizures, coma[1][2][3]
TypesLow volume, normal volume, high volume[4]
Diagnostic methodSerum sodium < 135 mmol/L[3]
Differential diagnosisHigh protein levels, high blood fat levels, high blood sugar[5][6]
TreatmentBased on underlying cause[4]
FrequencyRelatively common[6][7]
Hyponatremia is a low sodium concentration in the blood.[4] It is generally defined as a sodium concentration of less than 135 mmol/L (135 mEq/L), with severe hyponatremia being below 120 mEq/L.[3][8] Symptoms can be absent, mild or severe.[2][9] Mild symptoms include a decreased ability to think, headaches, nausea, and poor balance.[1][3] Severe symptoms include confusion, seizures, and coma.[1][2][9]
The causes of hyponatremia are typically classified by a person's body fluid status into low volume, normal volume, or high volume.[4] Low volume hyponatremia can occur from diarrhea, vomiting, diuretics, and sweating.[4] Normal volume hyponatremia is divided into cases with dilute urine and concentrated urine.[4] Cases in which the urine is dilute include adrenal insufficiency, hypothyroidism, and drinking too much water or too much beer.[4] Cases in which the urine is concentrated include syndrome of inappropriate antidiuretic hormone secretion (SIADH).[4] High volume hyponatremia can occur from heart failure, liver failure, and kidney failure.[4] Conditions that can lead to falsely low sodium measurements include high blood protein levels such as in multiple myeloma, high blood fat levels, and high blood sugar.[5][6]
Treatment is based on the underlying cause.[4] Correcting hyponatremia too quickly can lead to complications.[5] Rapid partial correction with 3% normal saline is only recommended in those with significant symptoms and occasionally those in whom the condition was of rapid onset.[4][6] Low volume hyponatremia is typically treated with intravenous normal saline.[4] SIADH is typically treated by correcting the underlying cause and with fluid restriction while high volume hyponatremia is typically treated with both fluid restriction and a diet low in salt.[1][4] Correction should generally be gradual in those in whom the low levels have been present for more than two days.[4]
Hyponatremia is the most common type of electrolyte imbalance.[10] It occurs in about 20% of those admitted to hospital and 10% of people during or after an endurance sporting event.[3][5] Among those in hospital, hyponatremia is associated with an increased risk of death.[5] The economic costs of hyponatremia are estimated at $2.6 billion in the United States.[11]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 High volume
* 2.2 Normal volume
* 2.3 Low volume
* 2.4 Other causes
* 3 Pathophysiology
* 3.1 Normal homeostasis
* 3.2 Hyponatremia
* 4 Diagnosis
* 4.1 False hyponatremia
* 4.2 True hyponatremia
* 4.3 Acute versus chronic
* 5 Treatment
* 5.1 Fluids
* 5.2 Electrolyte abnormalities
* 5.3 Medications
* 5.4 Precautions
* 6 Epidemiology
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
Signs and symptoms of hyponatremia include nausea and vomiting, headache, short-term memory loss, confusion, lethargy, fatigue, loss of appetite, irritability, muscle weakness, spasms or cramps, seizures, and decreased consciousness or coma.[1] Lower levels of plasma sodium are associated with more severe symptoms. However, mild hyponatremia (plasma sodium levels at 131–135 mmol/L) may be associated with complications and subtle symptoms[12] (for example, increased falls, altered posture and gait, reduced attention, impaired cognition, and possibly higher rates of death).[13][14]
Neurological symptoms typically occur with very low levels of plasma sodium (usually <115 mmol/L).[1] When sodium levels in the blood become very low, water enters the brain cells and causes them to swell (cerebral edema). This results in increased pressure in the skull and causes hyponatremic encephalopathy. As pressure increases in the skull, herniation of the brain can occur, which is a squeezing of the brain across the internal structures of the skull. This can lead to headache, nausea, vomiting, confusion, seizures, brain stem compression and respiratory arrest, and non-cardiogenic accumulation of fluid in the lungs.[15] This is usually fatal if not immediately treated.
Symptom severity depends on how fast and how severe the drop in blood sodium level. A gradual drop, even to very low levels, may be tolerated well if it occurs over several days or weeks, because of neuronal adaptation. The presence of underlying neurological disease such as a seizure disorder or non-neurological metabolic abnormalities, also affects the severity of neurologic symptoms.
Chronic hyponatremia can lead to such complications as neurological impairments. These neurological impairments most often affect gait (walking) and attention, and can lead to increased reaction time and falls.[citation needed] Hyponatremia, by interfering with bone metabolism, has been linked with a doubled risk of osteoporosis and an increased risk of bone fracture.[16]
## Causes[edit]
The specific causes of hyponatremia are generally divided into those with low tonicity (lower than normal concentration of solutes), without low tonicity, and falsely low sodiums.[10] Those with low tonicity are then grouped by whether the person has high fluid volume, normal fluid volume, or low fluid volume.[10] Too little sodium in the diet alone is very rarely the cause of hyponatremia.
### High volume[edit]
Both sodium and water content increase: Increase in sodium content leads to hypervolemia and water content to hyponatremia.
* cirrhosis of the liver[10]
* congestive heart failure[10]
* nephrotic syndrome in the kidneys[10]
* Excessive drinking of fluids[10]
### Normal volume[edit]
There is volume expansion in the body, no edema, but hyponatremia occurs[17]
* SIADH (and its many causes)[10]
* Hypothyroidism[10]
* Not enough ACTH[10]
* Beer potomania
* Normal physiologic change of pregnancy[18][19]
* Reset osmostat
### Low volume[edit]
Hypovolemia (extracellular volume loss) is due to total body sodium loss. Hyponatremia is caused by a relatively smaller loss in total body water.[17]
* any cause of hypovolemia such as prolonged vomiting, decreased oral intake, severe diarrhea[10]
* diuretic use (due to the diuretic causing a volume depleted state and thence ADH release, and not a direct result of diuretic-induced urine sodium loss)[10]
* Addison's disease and congenital adrenal hyperplasia in which the adrenal glands do not produce enough steroid hormones (combined glucocorticoid and mineralocorticoid deficiency)[10]
* pancreatitis[10]
* Prolonged exercise and sweating, combined with drinking water without electrolytes is the cause of exercise-associated hyponatremia (EAH).[5][20] It is common in marathon runners and participants of other endurance events.[21]
* The use of MDMA (ecstasy) can result in hyponatremia.[22]
### Other causes[edit]
Miscellaneous causes that are not included under the above classification scheme include the following:
* False hyponatremia (due to massive increases in blood triglyceride levels or extreme elevation of immunoglobulins as may occur in multiple myeloma)[10]
* Hyponatremia with elevated tonicity can occur with high blood sugar.[10]
## Pathophysiology[edit]
The causes of and treatments for hyponatremia can only be understood by having a grasp of the size of the body fluid compartments and subcompartments and their regulation; how under normal circumstances the body is able to maintain the sodium concentration within a narrow range (homeostasis of body fluid osmolality); conditions can cause that feedback system to malfunction (pathophysiology); and the consequences of the malfunction of that system on the size and solute concentration of the fluid compartments.[23]
### Normal homeostasis[edit]
There is a hypothalamic-kidney feedback system which normally maintains the concentration of the serum sodium within a narrow range. This system operates as follows: in some of the cells of the hypothalamus, there are osmoreceptors which respond to an elevated serum sodium in body fluids by signalling the posterior pituitary gland to secrete antidiuretic hormone (ADH) (vasopressin).[24] ADH then enters the bloodstream and signals the kidney to bring back sufficient solute-free water from the fluid in the kidney tubules to dilute the serum sodium back to normal, and this turns off the osmoreceptors in the hypothalamus. Also, thirst is stimulated.[25] Normally, when mild hyponatremia begins to occur, that is, the serum sodium begins to fall below 135 mEq/L, there is no secretion of ADH, and the kidney stops returning water to the body from the kidney tubule. Also, no thirst is experienced. These two act in concert to raise the serum sodium to the normal range.[26][27][28]
### Hyponatremia[edit]
Hyponatremia occurs 1) when the hypothalamic-kidney feedback loop is overwhelmed by increased fluid intake, 2) the feedback loop malfunctions such that ADH is always "turned on", 3) the receptors in the kidney are always "open" regardless of there being no signal from ADH to be open; or 4) there is an increased ADH even though there is no normal stimulus (elevated serum sodium) for ADH to be increased.
Hyponatremia occurs in one of two ways: either the osmoreceptor-aquaporin feedback loop is overwhelmed, or it is interrupted. If it is interrupted, it is either related or not related to ADH.[27] If the feedback system is overwhelmed, this is water intoxication with maximally dilute urine and is caused by 1) pathological water drinking (psychogenic polydipsia), 2) beer potomania, 3) overzealous intravenous solute free water infusion, or 4) infantile water intoxication. "Impairment of urine diluting ability related to ADH" occurs in nine situations: 1) arterial volume depletion 2) hemodynamically-mediated, 3) congestive heart failure, 4) cirrhosis, 5) nephrosis, 6) spinal cord disease, 7) Addison's disease, 8) cerebral salt wasting, and 9) syndrome of inappropriate antidiuretic hormone secretion (SIADH). If the feed-back system is normal, but an impairment of urine diluting ability unrelated to ADH occurs, this is 1) oliguric kidney failure, 2) tubular interstitial kidney disease, 3) diuretics, or 4) nephrogenic syndrome of antidiuresis.[27]
Sodium is the primary positively charged ion outside of the cell and cannot cross from the interstitial space into the cell. This is because charged sodium ions attract around them up to 25 water molecules, thereby creating a large polar structure too large to pass through the cell membrane: "channels" or "pumps" are required. Cell swelling also produces activation of volume-regulated anion channels which is related to the release of taurine and glutamate from astrocytes.[29]
## Diagnosis[edit]
The history, physical exam, and laboratory testing are required to determine the underlying cause of hyponatremia. A blood test demonstrating a serum sodium less than 135 mmol/L is diagnostic for hyponatremia.[30] The history and physical exam are necessary to help determine if the person is hypovolemic, euvolemic, or hypervolemic, which has important implications in determining the underlying cause. An assessment is also made to determine if the person is experiencing symptoms from their hyponatremia. These include assessments of alertness, concentration, and orientation.
### False hyponatremia[edit]
False hyponatremia, also known as spurious, pseudo, hypertonic, or artifactual hyponatremia is when the lab tests read low sodium levels but there is no hypotonicity. In hypertonic hyponatremia, resorption of water by molecules such as glucose (hyperglycemia or diabetes) or mannitol (hypertonic infusion) occurs. In isotonic hyponatremia a measurement error due to high blood triglyceride level (most common) or paraproteinemia occurs. It occurs when using techniques that measure the amount of sodium in a specified volume of serum/plasma, or that dilute the sample before analysis.[31]
### True hyponatremia[edit]
True hyponatremia, also known as hypotonic hyponatremia, is the most common type. It is often simply referred to as "hyponatremia." Hypotonic hyponatremia is categorized in 3 ways based on the person's blood volume status. Each category represents a different underlying reason for the increase in ADH that led to the water retention and thence hyponatremia:
* High volume hyponatremia, wherein there is decreased effective circulating volume (less blood flowing in the body) even though total body volume is increased (by the presence of edema or swelling, especially in the ankles). The decreased effective circulating volume stimulates the release of anti-diuretic hormone (ADH), which in turn leads to water retention. Hypervolemic hyponatremia is most commonly the result of congestive heart failure, liver failure, or kidney disease.
* Normal volume hyponatremia, wherein the increase in ADH is secondary to either physiologic but excessive ADH release (as occurs with nausea or severe pain) or inappropriate and non-physiologic secretion of ADH, that is, syndrome of inappropriate antidiuretic hormone hypersecretion (SIADH). Often categorized under euvolemic is hyponatremia due to inadequate urine solute (not enough chemicals or electrolytes to produce urine) as occurs in beer potomania or "tea and toast" hyponatremia, hyponatremia due to hypothyroidism or central adrenal insufficiency, and those rare instances of hyponatremia that are truly secondary to excess water intake.
* Low volume hyponatremia, wherein ADH secretion is stimulated by or associated with volume depletion (not enough water in the body) due to decreased effective circulating volume.
### Acute versus chronic[edit]
Chronic hyponatremia is when sodium levels drop gradually over several days or weeks and symptoms and complications are typically moderate. Chronic hyponatremia is often called asymptomatic hyponatremia in clinical settings because it is thought to have no symptoms; however, emerging data suggests that "asymptomatic" hyponatremia is not actually asymptomatic.[12]
Acute hyponatremia is when sodium levels drop rapidly, resulting in potentially dangerous effects, such as rapid brain swelling, which can result in coma and death.
## Treatment[edit]
The treatment of hyponatremia depends on the underlying cause.[10] How quickly treatment is required depends on a person's symptoms.[10] Fluids are typically the cornerstone of initial management.[10] In those with severe disease an increase in sodium of about 5 mmol/L over one to four hours is recommended.[10] A rapid rise in serum sodium is anticipated in certain groups when the cause of the hyponatremia is addressed thus warranting closer monitoring in order to avoid overly rapid correction of the blood sodium concentration. These groups include persons who have hypovolemic hyponatremia and receive intravenous fluids (thus correcting their hypovolemia), persons with adrenal insufficiency who receive hydrocortisone, persons in whom a medication causing increased ADH release has been stopped, and persons who have hyponatremia due to decreased salt and/or solute intake in their diet who are treated with a higher solute diet.[14] If large volumes of dilute urine are seen, this can be a warning sign that overcorrection is imminent in these individuals.[14]
Sodium deficit = (140 – serum sodium) x total body water[5]
Total body water = kilograms of body weight x 0.6
### Fluids[edit]
[citation needed]
Options include:
* Mild and asymptomatic hyponatremia is treated with adequate solute intake (including salt and protein) and fluid restriction starting at 500 ml per day of water with adjustments based on serum sodium levels. Long-term fluid restriction of 1,200–1,800 mL/day may maintain the person in a symptom free state.[32]
* Moderate and/or symptomatic hyponatremia is treated by raising the serum sodium level by 0.5 to 1 mmol per liter per hour for a total of 8 mmol per liter during the first day with the use of furosemide and replacing sodium and potassium losses with 0.9% saline.
* Severe hyponatremia or severe symptoms (confusion, convulsions, or coma): consider hypertonic saline (3%) 1–2 ml/kg IV in 3–4 h. Hypertonic saline may lead to a rapid dilute diuresis and fall in the serum sodium. It should not be used in those with an expanded extracellular fluid volume.
### Electrolyte abnormalities[edit]
In persons with hyponatremia due to low blood volume (hypovolemia) from diuretics with simultaneous low blood potassium levels, correction of the low potassium level can assist with correction of hyponatremia.[14]
### Medications[edit]
American and European guidelines come to different conclusions regarding the use of medications.[33] In the United States they are recommended in those with SIADH, cirrhosis, or heart failure who fail limiting fluid intake.[33] In Europe they are not generally recommended.[33]
There is tentative evidence that vasopressin receptor antagonists (vaptans), such as conivaptan, may be slightly more effective than fluid restriction in those with high volume or normal volume hyponatremia.[4] They should not be used in people with low volume.[10] They may also be used in people with chronic hyponatremia due to SIADH that is insufficiently responsive to fluid restriction and/or sodium tablets.[14]
Demeclocycline, while sometimes used for SIADH, has significant side effects including potential kidney problems and sun sensitivity.[10][34] In many people it has no benefit while in others it can result in overcorrection and high blood sodium levels.[10]
Daily use of urea by mouth, while not commonly used due to the taste, has tentative evidence in SIADH.[10][34] It, however, is not available in many areas of the world.[10]
### Precautions[edit]
Raising the serum sodium concentration too rapidly may cause osmotic demyelination syndrome.[35][36][37] It is recommended not to raise the serum sodium by more than 10 mEq/L/day.[38]
## Epidemiology[edit]
Hyponatremia is the most commonly seen water–electrolyte imbalance.[10] The disorder is more frequent in females, the elderly, and in people who are hospitalized. The number of cases of hyponatremia depends largely on the population. In hospital it affects about 15–20% of people, however, only 3–5% of people who are hospitalized have a sodium level less than 130 mmol/L. Hyponatremia has been reported in up to 30% of the elderly in nursing homes and is also present in approximately 30% of people who are depressed on selective serotonin reuptake inhibitors.[12]
People who have hyponatremia who require hospitalisation have a longer length of stay (with associated increased costs) and also have a higher likelihood of requiring readmission. This is particularly the case in men and in the elderly.[39]
## References[edit]
1. ^ a b c d e f Babar, S. (October 2013). "SIADH Associated With Ciprofloxacin" (PDF). The Annals of Pharmacotherapy. 47 (10): 1359–63. doi:10.1177/1060028013502457. ISSN 1060-0280. PMID 24259701. S2CID 36759747. Archived from the original (PDF) on May 1, 2015. Retrieved November 18, 2013.
2. ^ a b c Williams, DM; Gallagher, M; Handley, J; Stephens, JW (July 2016). "The clinical management of hyponatraemia". Postgraduate Medical Journal. 92 (1089): 407–11. doi:10.1136/postgradmedj-2015-133740. PMID 27044859.
3. ^ a b c d e Henry, DA (4 August 2015). "In The Clinic: Hyponatremia". Annals of Internal Medicine. 163 (3): ITC1–19. doi:10.7326/aitc201508040. PMID 26237763. S2CID 12434550.
4. ^ a b c d e f g h i j k l m n o Lee, JJ; Kilonzo, K; Nistico, A; Yeates, K (13 May 2014). "Management of hyponatremia". CMAJ : Canadian Medical Association Journal. 186 (8): E281–86. doi:10.1503/cmaj.120887. PMC 4016091. PMID 24344146.
5. ^ a b c d e f g Filippatos, TD; Liamis, G; Christopoulou, F; Elisaf, MS (April 2016). "Ten common pitfalls in the evaluation of patients with hyponatremia". European Journal of Internal Medicine. 29: 22–25. doi:10.1016/j.ejim.2015.11.022. PMID 26706473.
6. ^ a b c d Marx, John; Walls, Ron; Hockberger, Robert (2013). Rosen's Emergency Medicine – Concepts and Clinical Practice (8 ed.). Elsevier Health Sciences. pp. 1639–42. ISBN 978-1455749874. Archived from the original on 2016-08-15.
7. ^ Ball, SG; Iqbal, Z (March 2016). "Diagnosis and treatment of hyponatraemia". Best Practice & Research. Clinical Endocrinology & Metabolism. 30 (2): 161–73. doi:10.1016/j.beem.2015.12.001. PMID 27156756.
8. ^ Chatterjee, Kanu; Anderson, Mark; Heistad, Donald; Kerber, Richard E. (2014). Manual of Heart Failure. JP Medical Ltd. p. 142. ISBN 978-9350906309 – via Google Books.
9. ^ a b Ball, S; De Groot, LJ; Beck-Peccoz, P; Chrousos, G; Dungan, K; Grossman, A; Hershman, JM; Koch, C; McLachlan, R; New, M; Rebar, R; Singer, F; Vinik, A; Weickert, MO (2000). "Hyponatremia". PMID 25905359. Accessed 1 August 2016. Cite journal requires `|journal=` (help)
10. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z Dineen, R; Thompson, CJ; Sherlock, M (June 2017). "Hyponatraemia – presentations and management". Clinical Medicine. 17 (3): 263–69. doi:10.7861/clinmedicine.17-3-263. PMC 6297575. PMID 28572229.
11. ^ Simon, Eric E. (2014). Hyponatremia: Evaluation and Treatment. Springer Science & Business Media. p. 205. ISBN 978-1461466451. Archived from the original on 2016-08-15.
12. ^ a b c Schrier, Robert W. (2010). "Does 'asymptomatic hyponatremia' exist?". Nature Reviews Nephrology. 6 (4): 185. doi:10.1038/nrneph.2010.21. PMID 20348927.
13. ^ Decaux, Guy (2006). "Is Asymptomatic Hyponatremia Really Asymptomatic?". The American Journal of Medicine. 119 (7): S79–82. doi:10.1016/j.amjmed.2006.05.013. PMID 16843090.
14. ^ a b c d e Filippatos, TD; Liamis, G; Elisaf, MS (June 2016). "Ten pitfalls in the proper management of patients with hyponatremia". Postgraduate Medicine. 128 (5): 516–22. doi:10.1080/00325481.2016.1186488. PMID 27153450. S2CID 6237667.
15. ^ Moritz, M. L.; Ayus, J. C. (2003). "The pathophysiology and treatment of hyponatraemic encephalopathy: An update". Nephrology Dialysis Transplantation. 18 (12): 2486–91. doi:10.1093/ndt/gfg394. PMID 14605269.
16. ^ Upala, Sikarin; Sanguankeo, Anawin (25 February 2016). "Association Between Hyponatremia, Osteoporosis and Fracture: a Systematic Review and Meta-analysis". The Journal of Clinical Endocrinology & Metabolism. 101 (4): 1880–86. doi:10.1210/jc.2015-4228. PMID 26913635.
17. ^ a b Mange, Kevin; Matsuura, D; Cizman, B; Soto, H; Ziyadeh, FN; Goldfarb, S; Neilson, EG (1997). "Language Guiding Therapy: The Case of Dehydration versus Volume Depletion". Annals of Internal Medicine. 127 (9): 848–53. doi:10.7326/0003-4819-127-9-199711010-00020. PMID 9382413. S2CID 29854540.
18. ^ Plant, Tony M.; Zeleznik, Anthony J. (2014). Knobil and Neill's Physiology of Reproduction. Academic Press. p. 1962. ISBN 978-0123977694.
19. ^ Ronco, Claudio; Bellomo, Rinaldo; Kellum, John A. (2009). Critical Care Nephrology. Elsevier Health Sciences. p. 517. ISBN 978-1416042525.
20. ^ Bennett, BL; Hew-Butler, T; Hoffman, MD; Rogers, IR; Rosner, MH (Sep 2013). "Wilderness Medical Society practice guidelines for treatment of exercise-associated hyponatremia". Wilderness & Environmental Medicine. 24 (3): 228–40. doi:10.1016/j.wem.2013.01.011. PMID 23590928.
21. ^ Rosner, M.H.; Kirven, J. (2006). "Exercise-Associated Hyponatremia". Clinical Journal of the American Society of Nephrology. 2 (1): 151–61. doi:10.2215/CJN.02730806. PMID 17699400.
22. ^ Van Dijken, G. D.; Blom, R. E.; Hene, R. J.; Boer, W. H. (2013). "High incidence of mild hyponatraemia in females using ecstasy at a rave party". Nephrology Dialysis Transplantation. 28 (9): 2277–83. doi:10.1093/ndt/gft023. PMID 23476039. Archived from the original on 2014-04-18.
23. ^ Sterns (2013). ”Chapter 44. Antinatriureic peptides”, in Seldin and Giebisch’s The Kidney, Fifth Edition. pp. 1511–13. doi:10.1016/B978-0-12-381462-3.00037-9. Elsevier Inc.
24. ^ Antunes-Rodrigues, J; de Castro, M; Elias, LL; Valença, MM; McCann, SM (January 2004). "Neuroendocrine control of body fluid metabolism". Physiological Reviews. 84 (1): 169–208. doi:10.1152/physrev.00017.2003. PMID 14715914. [needs update]
25. ^ Baylis, PH; Thompson, CJ (November 1988). "Osmoregulation of vasopressin secretion and thirst in health and disease". Clinical Endocrinology. 29 (5): 549–76. doi:10.1111/j.1365-2265.1988.tb03704.x. PMID 3075528. S2CID 10897593. [needs update]
26. ^ Ball SG, Iqbal Z (2016). "Diagnosis and treatment of hyponatraemia". Best Practice & Research. Clinical Endocrinology & Metabolism. 30 (2): 161–73. doi:10.1016/j.beem.2015.12.001. PMID 27156756.
27. ^ a b c Sterns, RH; Silver, SM; Hicks, JK (2013). "44: Hyponatremia". In Alpern, Robert J.; Moe, Orson W.; Caplan, Michael (eds.). Seldin and Giebisch's The Kidney Physiology & Pathophysiology (5th ed.). Burlington: Elsevier Science. ISBN 978-0123814630.
28. ^ Kwon, TH; Hager, H; Nejsum, LN; Andersen, ML; Frøkiaer, J; Nielsen, S (May 2001). "Physiology and pathophysiology of renal aquaporins". Seminars in Nephrology. 21 (3): 231–38. doi:10.1053/snep.2001.21647. PMID 11320486.
29. ^ Diringer, M. (2017). "Neurologic manifestations of major electrolyte abnormalities". Critical Care Neurology Part II. Handbook of Clinical Neurology. 141. pp. 705–13. doi:10.1016/B978-0-444-63599-0.00038-7. ISBN 978-0444635990. ISSN 0072-9752. PMID 28190443.
30. ^ Sabatine, [edited by] Marc S. (2014). Pocket medicine (Fifth ed.). [S.l.]: Aspen Publishers, Inc. ISBN 978-1451193787.CS1 maint: extra text: authors list (link)
31. ^ "Ask the Expert: May 2016 Investigating Hyponatremia". American Association for Clinical Chemistry. Archived from the original on 8 June 2016. Retrieved 16 September 2013.
32. ^ Schürer, Ludwig; Wolf, Stefan; Lumenta, Christianto B. (2010). "Water and Electrolyte Regulation". In Lumenta, Christianto B.; Di Rocco, Concezio; Haase, Jens; et al. (eds.). Neurosurgery. European Manual of Medicine. pp. 611–15. doi:10.1007/978-3-540-79565-0_40. ISBN 978-3-540-79565-0.
33. ^ a b c Rondon-Berrios, Helbert; Berl, Tomas (2017). "Vasopressin Receptor Antagonists in Hyponatremia: Uses and Misuses". Frontiers in Medicine. 4: 141. doi:10.3389/fmed.2017.00141. ISSN 2296-858X. PMC 5573438. PMID 28879182. This article incorporates text available under the CC BY 4.0 license.
34. ^ a b Zietse, R.; van der Lubbe, N.; Hoorn, E. J. (2009). "Current and future treatment options in SIADH". Clinical Kidney Journal. 2 (Suppl_3): iii12–iii19. doi:10.1093/ndtplus/sfp154. PMC 2762827. PMID 19881932.
35. ^ Bernsen, HJ; Prick, MJ (September 1999). "Improvement of central pontine myelinolysis as demonstrated by repeated magnetic resonance imaging in a patient without evidence of hyponatremia". Acta Neurologica Belgica. 99 (3): 189–93. PMID 10544728.
36. ^ Ashrafian, H.; Davey, P. (2001). "A review of the causes of central pontine myelinosis: yet another apoptotic illness?". European Journal of Neurology. 8 (2): 103–09. doi:10.1046/j.1468-1331.2001.00176.x. PMID 11430268. S2CID 37760332.
37. ^ Abbott, R; Silber, E; Felber, J; Ekpo, E (8 October 2005). "Osmotic demyelination syndrome". BMJ (Clinical Research Ed.). 331 (7520): 829–30. doi:10.1136/bmj.331.7520.829. PMC 1246086. PMID 16210283.
38. ^ Patrick C. Auth (2012). Physician Assistant Review. Lippincott Williams & Wilkins. pp. 245–. ISBN 978-1-4511-7129-7 – via Google Books.
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## Further reading[edit]
* Sandy Craig; Erik D Schraga; Francisco Talavera; Howard A Bessen; John D Halamka (2010-04-13). "Hyponatremia in Emergency Medicine". Medscape.
* Kugler JP, Hustead T (June 2000). "Hyponatremia and hypernatremia in the elderly". Am Fam Physician. 61 (12): 3623–30. PMID 10892634.
* James L. Lewis, III, MD (May 2009). "Hyponatremia". Merck Manual of Diagnosis and Therapy.CS1 maint: multiple names: authors list (link)
* Elizabeth Quinn (2011-03-07). "What Is Hyponatremia: Hyponatremia or water intoxication – Can Athletes Drink Too Much Water?". About.com.
## External links[edit]
* Hyponatremia at the Mayo Clinic
* Sodium at Lab Tests Online
Classification
D
* ICD-10: E87.1
* ICD-9-CM: 276.1
* MeSH: D007010
* DiseasesDB: 6483
External resources
* MedlinePlus: 000394
* eMedicine: emerg/275 med/1130 ped/1124
* Patient UK: Hyponatremia
* v
* t
* e
Electrolyte imbalances
Sodium
* High
* Salt poisoning
* Low
* Hypotonic
* Isotonic
* Cerebral salt-wasting syndrome
Potassium
* High
* Low
Chloride
* High
* Low
Calcium
* High
* Low
* Symptoms and signs
* Chvostek sign
* Trousseau sign
* Milk-alkali syndrome
* Disorders of calcium metabolism
* Calcinosis (Calciphylaxis, Calcinosis cutis)
* Calcification (Metastatic calcification, Dystrophic calcification)
* Familial hypocalciuric hypercalcemia
Phosphate
* High
* Low
Magnesium
* High
* Low
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hyponatremia
|
c0020625
| 25,219 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyponatremia
| 2021-01-18T18:32:20 |
{"mesh": ["D007010"], "umls": ["C0020625"], "icd-9": ["276.1"], "icd-10": ["E87.1"], "wikidata": ["Q824292"]}
|
A rare, genetic retinal disease characterized by characteristic "dried-out soil" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Martinique crinkled retinal pigment epitheliopathy
|
c4310713
| 25,220 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466718
| 2021-01-23T18:02:09 |
{"omim": ["617111"], "icd-10": ["H35.5"], "synonyms": ["MCRPE"]}
|
A number sign (#) is used with this entry because of evidence that premature ovarian failure-14 (POF14) is caused by homozygous mutation in the GDF9 gene (601918) on chromosome 5q31. One such patient has been reported.
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Clinical Features
Franca et al. (2018) studied a 19-year-old Brazilian 46,XX woman with primary amenorrhea. Examination revealed breast development and pubic hair at Tanner stages II and III, respectively. Basal serum gonadotropin levels were elevated, with follicle-stimulating hormone (FSH; see 136530) of 87 U/L, and luteinizing hormone (LH; see 152780) of 51 U/L, whereas serum estradiol was low (less than 13 pg/mL). Treatment with conjugated estrogens followed by progesterone replacement in the first 12 days of the month resulted in complete breast development and normal menstrual cycle.
Molecular Genetics
By array CGH analysis in a cohort of 54 patients with primary ovarian insufficiency, Norling et al. (2014) identified a 15-year-old girl (patient 20) with secondary amenorrhea who was heterozygous for a 475-bp tandem duplication (chr5:132,228,266-132,228,740, NCBI36) involving part of the promoter region of the GDF9 gene, including 3 NOBOX-binding elements and an E-box sequence. No further clinical information or segregation or functional analysis was reported. The authors stated that this was the first mutation identified affecting the regulatory region of the GDF9 gene.
In a cohort of 100 female patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) analyzed 19 POF-associated or candidate genes and identified heterozygosity for missense mutations in the GDF9 gene in 2 sisters with primary amenorrhea and an unrelated patient with secondary amenorrhea. In both families, the affected individuals were also heterozygous for a missense mutation in another gene from the panel, REC8 (608193) in the 2 sisters, and FIGLA (608697; see POF6, 612310) in the other patient. The sisters' unaffected parents were each heterozygous for 1 of the mutations; segregation information was not reported for the other patient, and functional analysis was not performed. The authors suggested that POF is not always a monogenic mendelian disorder, and that digenicity and possibly oligogenicity may contribute to the disorder.
In a cohort of 48 Brazilian woman with primary ovarian insufficiency, Franca et al. (2018) performed targeted gene sequencing and identified homozygosity for a 1-bp deletion in the GDF9 gene (601918.0001) in 1 patient. The mutation was present in heterozygosity in the patient's unaffected mother and fertile sister, but was not found in 200 fertile Brazilian women, 609 elderly Brazilian exomes, or in public variant databases. Franca et al. (2018) stated that heterozygous mutations in GDF9 previously had been reported in some POF cohorts, in patients with secondary amenorrhea. However, noting that their proband's mother had normal ovarian function and 4 children, the authors concluded that some heterozygous GDF9 variants do not induce POF.
INHERITANCE \- Autosomal recessive GENITOURINARY Internal Genitalia (Female) \- Primary amenorrhea \- Absent breast development \- Delayed pubic hair development ENDOCRINE FEATURES \- Elevated follicle-stimulating hormone (FSH, see 136530 ) \- Elevated luteinizing hormone (LH, see 152780 ) \- Low serum estradiol MISCELLANEOUS \- Based on report of 1 patient (last curated June 2018) MOLECULAR BASIS \- Caused by mutation in the growth/differentiation factor-9 gene (GDF9, 601918.0001 ) ▲ 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
|
PREMATURE OVARIAN FAILURE 14
|
c4693941
| 25,221 |
omim
|
https://www.omim.org/entry/618014
| 2019-09-22T15:43:55 |
{"omim": ["618014"]}
|
This article is about the disease. For the organism, see Trichuris trichiura.
Not to be confused with Trichinosis or Trichomoniasis.
Infection by the parasitic worm Trichuris trichiura (whipworm)
Trichuriasis
Other namesWhipworm infection
Life cycle of Trichuris trichiura
SpecialtyInfectious disease
SymptomsAbdominal pain, tiredness, diarrhea[1]
ComplicationsAnemia, poor intellectual and physical development[1][2]
CausesEat food containing Trichuris trichiura eggs[2]
Diagnostic methodStool microscopy[3]
PreventionImproved sanitation, handwashing, mass treatment[4][5]
MedicationAlbendazole, mebendazole, ivermectin[6]
Frequency464 million (2015)[7]
Trichuriasis, also known as whipworm infection, is an infection by the parasitic worm Trichuris trichiura (whipworm).[2] If infection is only with a few worms, there are often no symptoms.[1] In those who are infected with many worms, there may be abdominal pain, tiredness and diarrhea.[1] The diarrhea sometimes contains blood.[1] Infections in children may cause poor intellectual and physical development.[1] Low red blood cell levels may occur due to loss of blood.[2]
The disease is usually spread when people eat food or drink water that contains the eggs of these worms.[1] This may occur when contaminated vegetables are not fully cleaned or cooked.[1] Often these eggs are in the soil in areas where people defecate outside and where untreated human feces is used as fertilizer.[2] These eggs originate from the feces of infected people.[1] Young children playing in such soil and putting their hands in their mouths also become infected easily.[1] The worms live in the large bowel and are about four centimetres in length.[2] Whipworm is diagnosed by seeing the eggs when examining the stool with a microscope.[3] Eggs are barrel-shaped.[8] Trichuriasis belongs to the group of soil-transmitted helminthiases.[9]
Prevention is by properly cooking food and hand washing before cooking.[5] Other measures include improving access to sanitation such as ensuring use of functional and clean toilets[5] and access to clean water.[10] In areas of the world where the infections are common, often entire groups of people will be treated all at once and on a regular basis.[4] Treatment is with three days of the medication: albendazole, mebendazole or ivermectin.[6] People often become infected again after treatment.[11]
Whipworm infection affected about 464 million in 2015.[7] It is most common in tropical countries.[4] In the developing world, those infected with whipworm often also have hookworms and ascariasis infections.[4] They have a large effect on the economy of many countries.[12] Work is ongoing to develop a vaccine against the disease.[4] Trichuriasis is classified as a neglected tropical disease.[9]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Reservoir
* 2.2 Vector
* 2.3 Transmission
* 2.4 Life cycle
* 2.5 Incubation period
* 2.6 Morphology
* 3 Diagnosis
* 4 Prevention
* 4.1 Deworming
* 4.2 Sanitation
* 5 Treatment
* 6 Epidemiology
* 6.1 Regions
* 6.2 Infection estimates
* 7 History
* 8 Synonyms
* 9 Research
* 10 References
* 11 External links
## Signs and symptoms[edit]
Light infestations (<100 worms) frequently have no symptoms. Heavier infestations, especially in small children, can present gastrointestinal problems including abdominal pain and distension, bloody or mucus-filled diarrhea, and tenesmus (feeling of incomplete defecation, generally accompanied by involuntary straining). Mechanical damage to the intestinal mucosa may occur, as well as toxic or inflammatory damage to the intestines of the host. While appendicitis may be brought on by damage and edema of the adjacent tissue, if there are large numbers of worms or larvae present, it has been suggested that the embedding of the worms into the ileocecal region may also make the host susceptible to bacterial infection. A severe infection with high numbers of embedded worms in the rectum leads to edema, which can cause rectal prolapse, although this is typically only seen in small children. The prolapsed, inflamed and edematous rectal tissue may even show visible worms.[citation needed]
Physical growth delay, weight loss, nutritional deficiencies, and anemia (due to long-standing blood loss) are also characteristic of infection, and these symptoms are more prevalent and severe in children. It does not commonly cause eosinophilia.
Coinfection of T. trichiura with other parasites is common and with larger worm burdens can cause both exacerbation of dangerous trichuriasis symptoms such as massive gastrointestinal bleeding (shown to be especially dramatic with coinfection with Salmonella typhi) and exacerbation of symptoms and pathogenesis of the other parasitic infection (as is typical with coinfection with Schistosoma mansoni, in which higher worm burden and liver egg burden is common). Parasitic coinfection with HIV/AIDS, tuberculosis, and malaria is also common, especially in Sub-saharan Africa, and helminth coinfection adversely affects the natural history and progression of HIV/AIDS, tuberculosis, and malaria and can increase clinical malaria severity. In a study performed in Senegal, infections of soil-transmitted helminths like T. trichiura (as well as schistosome infections independently) showed enhanced risk and increased the incidence of malaria.
Heavy infestations may have bloody diarrhea. Long-standing blood loss may lead to iron-deficiency anemia.[13] Vitamin A deficiency may also result due to infection.[14]
## Cause[edit]
Trichuriasis is caused by a parasitic worm also known as a helminth called Trichuris trichiura. It belongs to the genus Trichuris, formerly known as Trichocephalus, meaning hair head, which would be a more accurate name; however the generic name is now Trichuris, which means hair tail (implying that the posterior end of the worm is the attenuated section). Infections by parasitic worms are known as helminthiasis.
### Reservoir[edit]
Humans are the main, but not the only reservoir for T. trichiura. Recent research verified by the application of molecular techniques (PCR) that dogs are a reservoir for T. trichiura, as well as T. vulpis.[15]
### Vector[edit]
Non-biting cyclorrhaphan flies (Musca domestica, M. sorbens, Chrysomya rufifacies, C. bezziana, Lucina cuprina, Calliphora vicina and Wohlfarthia magnifica) have been found to carry Trichuris trichiura. A study in two localized areas in Ethiopia found cockroaches were carriers for several human intestinal parasites, including T. trichiura.
### Transmission[edit]
Humans can become infected with the parasite due to ingestion of infective eggs by mouth contact with hands or food contaminated with egg-carrying soil. However, there have also been rare reported cases of transmission of T. trichiura by sexual contact. Some major outbreaks have been traced to contaminated vegetables (due to presumed soil contamination).
### Life cycle[edit]
Unembryonated eggs (unsegmented) are passed in the feces of a previous host to the soil. In the soil, these eggs develop into a 2-cell stage (segmented egg) and then into an advanced cleavage stage. Once at this stage, the eggs embryonate and then become infective, a process that occurs in about 15 to 30 days). Next, the infective eggs are ingested by way of soil-contaminated hands or food and hatch inside the small intestine, releasing larvae into the gastrointestinal tract. These larvae burrow into a villus and develop into adults (over 2–3 days). They then migrate into the cecum and ascending colon where they thread their anterior portion (whip-like end) into the tissue mucosa and reside permanently for their year-long lifespan. About 60 to 70 days after infection, female adults begin to release unembryonated eggs (oviposit) into the cecum at a rate of 3,000 to 20,000 eggs per day, linking the life cycle to the start.
### Incubation period[edit]
* The exact incubation period of T. trichiura is unknown, however, immature eggs in soil under favorable conditions take about three weeks to mature: 15–30 days, 10 days minimum to mature before ideal ingestion by the human host. Favorable conditions for maturation of eggs is warm to temperate climates with adequate humidity or precipitation, as ova are resistant to cold, but not resistant to drying.
* Once ingested, the larva will remain dug into a villus in the small intestine for about 2–3 days until it is fully developed for migration to the ileocecal section of the gastrointestinal tract.
* The average total life span of T. trichiura is one year, although there have been longer cases reported, lasting as long as five years (Note: inadequate treatment and re-infection are likely to play a role in this).
### Morphology[edit]
Trichuris trichiura egg
Adult worms are usually 3–5 centimetres (1.2–2.0 in) long, with females being larger than males as is typical of nematodes. The thin, clear majority of the body (the anterior, whip-like end) is the esophagus, and it is the end that the worm threads into the mucosa of the colon. The widened, pinkish gray region of the body is the posterior, and it is the end that contains the parasite's intestines and reproductive organs. T. trichiura eggs are prolate spheroids, the shape of the balls used in Rugby and Gridiron football. They are about 50–54 μm (0.0020–0.0021 in) long and have polar plugs (also known as refractile prominences) at each end.
## Diagnosis[edit]
A stool ova and parasites exam reveals the presence of typical whipworm eggs. Typically, the Kato-Katz thick-smear technique is used for identification of the Trichuris trichiura eggs in the stool sample.
Although colonoscopy is not typically used for diagnosis, as the adult worms can be overlooked, especially with imperfect colon, there have been reported cases in which colonoscopy has revealed adult worms. Colonoscopy can directly diagnose trichuriasis by identification of the threadlike form of worms with an attenuated, whip-like end. Colonoscopy has been shown to be a useful diagnostic tool, especially in patients infected with only a few male worms and with no eggs presenting in the stool sample.
Trichuriasis can be diagnosed when T. trichiura eggs are detected in stool examination. Eggs will appear barrel-shaped and unembryonated, having bipolar plugs and a smooth shell.[16] Rectal prolapse can be diagnosed easily using defecating proctogram and is one of many methods for imaging the parasitic infection. Sigmoidoscopys show characteristic white bodies of adult worms hanging from inflamed mucosa ("coconut cake rectum").
## Prevention[edit]
### Deworming[edit]
Limited access to essential medicine poses a challenge to the eradication of trichuriasis worldwide. Also, it is a public health concern that rates of post-treatment re-infection need to be determined and addressed to diminish the incidence of untreated re-infection. Lastly, with mass drug administration strategies and improved diagnosis and prompt treatment, detection of an emergence of antihelminthic drug resistance should be examined.
Mass Drug Administration (preventative chemotherapy) has had a positive effect on the disease burden of trichuriasis in East and West Africa, especially among children, who are at highest risk for infection.
### Sanitation[edit]
Infection can be avoided by proper disposal of human feces, avoiding fecal contamination of food, not eating dirt, and avoiding crops fertilized with untreated human feces. Simple and effective proper hygiene such as washing hands and food is recommended for control.
Improved facilities for feces disposal have decreased the incidence of whipworm. Handwashing before food handling, and avoiding ingestion of soil by thorough washing of food that may have been contaminated with egg-containing soil are other preventive measures. Improvement of sanitation systems, as well as improved facilities for feces disposal, have helped to limit defecation onto soil and contain potentially infectious feces from bodily contact.
A study in a Brazilian urban centre demonstrated a significant reduction in prevalence and incidence of soil-transmitted helminthiasis, including trichuriasis, following implementation of a citywide sanitation program. A 33% reduction in the prevalence of trichuriasis and a 26% reduction in the incidence of trichuriasis was found in a study performed on 890 children ages 7–14 years old within 24 different sentinel areas chosen to represent the varied environmental conditions throughout the city of Salvador, Bahia, Brazil. Control of soil fertilizers has helped eliminate the potential for contact of human fecal matter and fertilizer in the soil.
## Treatment[edit]
The highest clearance rates are obtained by combining mebendazole or albendazole with ivermectin.[17] Ivermectin's safety in children under 15 kg (33 lb) and pregnant women has not yet been established.
People with diarrhea may be treated with loperamide to increase the amount of drug contact with the parasites.
Mebendazole is 90% effective in the first dose, and albendazole may also be offered as an anti-parasitic agent. Adding iron to the bloodstream helps solve the iron deficiency and rectal prolapse. Difetarsone is also an effective treatment.
## Epidemiology[edit]
Disability-adjusted life year for trichuriasis per 100,000 inhabitants in 2004.
no data
less than 5
5-10
10-15
15-20
20-25
25-30
30-35
35-40
40-45
45-50
50-60
more than 60
### Regions[edit]
Infection of T. trichiura is most frequent in areas with tropical weather and poor sanitation practices. Trichuriasis occurs frequently in areas in which untreated human feces is used as fertilizer or where open defecation takes place. Trichuriasis infection prevalence is 50 to 80 percent in some regions of Asia (noted especially in China and Korea) and also occurs in rural areas of the southeastern United States.
### Infection estimates[edit]
T. trichiura is the third most common nematode (roundworm) infecting humans. Infection is most prevalent among children, and in North America, infection occurs frequently in immigrants from tropical or sub-tropical regions. It is estimated that 600-800 million people are infected worldwide with 3.2 billion individuals at risk because they live in regions where this intestinal worm is common.
## History[edit]
The first written record of T. trichiura was made by the Italian anatomist Giovanni Battista Morgagni, who identified the presence of the parasite in a case of worms residing in the colon in 1740.[citation needed] An exact morphological description and accurate drawings were first recorded in 1761 by Johann Georg Roederer, a German physician.[citation needed] Soon after, the name Trichuris trichiura was given to this species.
## Synonyms[edit]
Human whipworm, trichocephaliasis, and tricuriasis are all synonyms for trichuriasis, human infection of the T. trichiura intestinal nematode. In Spanish, trichuriasis is called tricuriasis, while in it is known as trichuriose in French and Peitschenwurmbefall in German.
## Research[edit]
Development of subunit vaccines requires the identification of protective antigens and their formulation in a suitable adjuvant. Trichuris muris is an antigenically similar laboratory model for T. trichiura. Subcutaneous vaccination with adult excretory–secretory products (ES) protects susceptible mouse strains from T. muris. Larval stages may contain novel and more relevant antigens which when incorporated in a vaccine induce worm expulsion earlier in infection than the adult worm products. Nematode vaccines marketed to date have been of the irradiated larval type and used exclusively for the treatment of animals. These vaccines are not stable and require annual production, involving the yearly production and sacrifice of donor animals for passage. There has been much interest in the production of subunit vaccines against human and agricultural parasites since the early 1980s. Development of subunit vaccines requires the identification of protective antigens and their formulation with a suitable adjuvant to stimulate the immune response appropriately.[citation needed]
## References[edit]
1. ^ a b c d e f g h i j "Soil-transmitted helminth infections Fact sheet N°366". World Health Organization. June 2013. Archived from the original on 21 February 2014. Retrieved 5 March 2014.
2. ^ a b c d e f "Parasites - Trichuriasis (also known as Whipworm Infection)". CDC. January 10, 2013. Archived from the original on 1 March 2014. Retrieved 5 March 2014.
3. ^ a b "Parasites - Trichuriasis (also known as Whipworm Infection) Diagnosis". CDC. January 10, 2013. Archived from the original on 20 March 2014. Retrieved 20 March 2014.
4. ^ a b c d e Bethony, J; Brooker, S; Albonico, M; Geiger, SM; Loukas, A; Diemert, D; Hotez, PJ (May 6, 2006). "Soil-transmitted helminth infections: ascariasis, trichuriasis, and hookworm". Lancet. 367 (9521): 1521–32. doi:10.1016/S0140-6736(06)68653-4. PMID 16679166. S2CID 8425278.
5. ^ a b c "Parasites - Trichuriasis (also known as Whipworm Infection) Prevention & Control". CDC. January 10, 2013. Archived from the original on 20 March 2014. Retrieved 20 March 2014.
6. ^ a b "Parasites - Trichuriasis (also known as Whipworm Infection): Resources for Health Professionals". CDC. January 10, 2013. Archived from the original on 20 October 2014. Retrieved 5 March 2014.
7. ^ a b GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
8. ^ Duben-Engelkirk, Paul G. Engelkirk, Janet (2008). Laboratory diagnosis of infectious diseases : essentials of diagnostic microbiology. Baltimore: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 604. ISBN 9780781797016. Archived from the original on 2017-09-08.
9. ^ a b "Neglected Tropical Diseases". cdc.gov. June 6, 2011. Archived from the original on 4 December 2014. Retrieved 28 November 2014.
10. ^ Ziegelbauer, K; Speich, B; Mäusezahl, D; Bos, R; Keiser, J; Utzinger, J (Jan 2012). "Effect of sanitation on soil-transmitted helminth infection: systematic review and meta-analysis". PLOS Medicine. 9 (1): e1001162. doi:10.1371/journal.pmed.1001162. PMC 3265535. PMID 22291577.
11. ^ Jia, TW; Melville, S; Utzinger, J; King, CH; Zhou, XN (2012). "Soil-transmitted helminth reinfection after drug treatment: a systematic review and meta-analysis". PLOS Neglected Tropical Diseases. 6 (5): e1621. doi:10.1371/journal.pntd.0001621. PMC 3348161. PMID 22590656.
12. ^ Jamison, Dean (2006). "Helminth Infections: Soil-transmitted Helminth Infections and Schistosomiasis". Disease control priorities in developing countries (2nd ed.). New York: Oxford University Press. p. Chapter 24. ISBN 9780821361801. Archived from the original on 2016-10-10.
13. ^ Gyorkos TW; Gilbert NL; Larocque R; Casapía M (2011). "Trichuris and hookworm infections associated with anaemia during pregnancy". Trop Med Int Health. 16 (4): 531–7. doi:10.1111/j.1365-3156.2011.02727.x. PMID 21281406. S2CID 205391965.
14. ^ "Trichuris trichiura definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms". Medterms.com. 2000-04-15. Archived from the original on 2011-06-06. Retrieved 2009-05-19.
15. ^ Areekul, Pannatat; Jongwutiwes (February 2010). "Trichuris vulpis and T. trichiura infections among schoolchildren of a rural community in northwestern Thailand: the possible role of dogs in disease transmission". Asian Biomedicine. 4 (1): 49–60. doi:10.2478/abm-2010-0006.
16. ^ "Trichuris trichiura". WrongDiagnosis.com. 2009-05-06. Archived from the original on 2004-06-19. Retrieved 2009-05-19.
17. ^ Knopp S, Mohammed KA, Speich B, et al. (2010). "Albendazole and mebendazole administered alone or in combination with ivermectin against Trichuris trichiura: a randomized controlled trial". Clin Infect Dis. 51 (12): 1420–8. doi:10.1086/657310. PMID 21062129. (Knopp S, Mohammed KA, Speich B, Hattendorf J, Khamis IS, Khamis AN, Stothard JR, Rollinson D, Marti H, Utzinger J ).
## External links[edit]
Classification
D
* ICD-10: B79
* ICD-9-CM: 127.3
* MeSH: D014257
* DiseasesDB: 31146
External resources
* MedlinePlus: 001364
* Patient UK: Trichuriasis
* v
* t
* e
Parasitic disease caused by helminthiases
Flatworm/
platyhelminth
infection
Fluke/trematode
(Trematode infection)
Blood fluke
* Schistosoma mansoni / S. japonicum / S. mekongi / S. haematobium / S. intercalatum
* Schistosomiasis
* Trichobilharzia regenti
* Swimmer's itch
Liver fluke
* Clonorchis sinensis
* Clonorchiasis
* Dicrocoelium dendriticum / D. hospes
* Dicrocoeliasis
* Fasciola hepatica / F. gigantica
* Fasciolosis
* Opisthorchis viverrini / O. felineus
* Opisthorchiasis
Lung fluke
* Paragonimus westermani / P. kellicotti
* Paragonimiasis
Intestinal fluke
* Fasciolopsis buski
* Fasciolopsiasis
* Metagonimus yokogawai
* Metagonimiasis
* Heterophyes heterophyes
* Heterophyiasis
Cestoda
(Tapeworm infection)
Cyclophyllidea
* Echinococcus granulosus / E. multilocularis
* Echinococcosis
* Taenia saginata / T. asiatica / T. solium (pork)
* Taeniasis / Cysticercosis
* Hymenolepis nana / H. diminuta
* Hymenolepiasis
Pseudophyllidea
* Diphyllobothrium latum
* Diphyllobothriasis
* Spirometra erinaceieuropaei
* Sparganosis
* Diphyllobothrium mansonoides
* Sparganosis
Roundworm/
Nematode
infection
Secernentea
Spiruria
Camallanida
* Dracunculus medinensis
* Dracunculiasis
Spirurida
Filarioidea
(Filariasis)
* Onchocerca volvulus
* Onchocerciasis
* Loa loa
* Loa loa filariasis
* Mansonella
* Mansonelliasis
* Dirofilaria repens
* D. immitis
* Dirofilariasis
* Wuchereria bancrofti / Brugia malayi / |B. timori
* Lymphatic filariasis
Thelazioidea
* Gnathostoma spinigerum / G. hispidum
* Gnathostomiasis
* Thelazia
* Thelaziasis
Spiruroidea
* Gongylonema
Strongylida
(hookworm)
* Hookworm infection
* Ancylostoma duodenale / A. braziliense
* Ancylostomiasis / Cutaneous larva migrans
* Necator americanus
* Necatoriasis
* Angiostrongylus cantonensis
* Angiostrongyliasis
* Metastrongylus
* Metastrongylosis
Ascaridida
* Ascaris lumbricoides
* Ascariasis
* Anisakis
* Anisakiasis
* Toxocara canis / T. cati
* Visceral larva migrans / Toxocariasis
* Baylisascaris
* Dioctophyme renale
* Dioctophymosis
* Parascaris equorum
Rhabditida
* Strongyloides stercoralis
* Strongyloidiasis
* Trichostrongylus spp.
* Trichostrongyliasis
* Halicephalobus gingivalis
Oxyurida
* Enterobius vermicularis
* Enterobiasis
Adenophorea
* Trichinella spiralis
* Trichinosis
* Trichuris trichiura (Trichuriasis / Whipworm)
* Capillaria philippinensis
* Intestinal capillariasis
* C. hepatica
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Trichuriasis
|
c0040954
| 25,222 |
wikipedia
|
https://en.wikipedia.org/wiki/Trichuriasis
| 2021-01-18T18:51:25 |
{"gard": ["10720"], "mesh": ["D014257"], "umls": ["C0040954"], "wikidata": ["Q2264130"]}
|
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Adult familial nephronophthisis-spastic quadriparesia syndrome
|
None
| 25,223 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2666
| 2021-01-23T18:16:41 |
{}
|
Human disease
Patellar tendinitis
Other namesQuadriceps tendinopathy, patellar tendinopathy, jumper's knee, patellar tendinosis, patellar tendinitis
Location of the pain in patellar tendinitis
SpecialtyOrthopedics, sports medicine
SymptomsPain at the front of the knee[1]
ComplicationsPatellar tendon rupture[2]
Risk factorsJumping sports, being overweight[1]
Diagnostic methodBased on symptoms and examination[2]
Differential diagnosisChondromalacia patella, Osgood-Schlatter disease, patellofemoral syndrome, infrapatellar bursitis[1][2]
TreatmentRest, physical therapy[2]
PrognosisRecovery can be slow[2]
Frequency14% of athletes[1]
Patellar tendinitis, also known as jumper's knee, is an overuse injury of the tendon that straightens the knee.[1] Symptoms include pain in the front of the knee.[1] Typically the pain and tenderness is at the lower part of the kneecap, though the upper part may also be affected.[2] Generally there is not pain when the person is at rest.[2] Complications may include patellar tendon rupture.[2]
Risk factors include being involved in athletics and being overweight.[1] It is particularly common in athletes who are involved in jumping sports such as basketball and volleyball.[1][2] The underlying mechanism involves small tears in the tendon connecting the kneecap with the shinbone.[2] Diagnosis is generally based on symptoms and examination.[2] Other conditions that can appear similar include infrapatellar bursitis, chondromalacia patella and patellofemoral syndrome.[1][2]
Treatment often involves resting the knee and physical therapy.[2] Evidence for treatments, including rest, however is poor.[3][4] Recovery can take a year.[2] It is relatively common with about 14% of athletes currently affected.[1] Males are more commonly affected than females.[2] The term "jumper's knee" was coined in 1973.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 Procedures
* 4.2 Surgery
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
People report anterior knee pain, often with an aching quality. The symptom onset is insidious. Rarely is a discrete injury described. Usually, the problem is below the kneecap but it may also be above. Jumper's knee can be classified into 1 of 4 stages, as follows:[2]
Stage 1 – Pain only after activity, without functional impairment
Stage 2 – Pain during and after activity, although the person is still able to perform satisfactorily in his or her sport
Stage 3 – Prolonged pain during and after activity, with increasing difficulty in performing at a satisfactory level
Stage 4 – Complete tendon tear requiring surgical repair
It begins as inflammation in the patellar tendon where it attaches to the patella and may progress by tearing or degenerating the tendon. People present with an ache over the patella tendon. Most people are between 10 and 16 years old. Magnetic resonance imaging can reveal edema (increased T2 signal intensity) in the proximal aspect of the patellar tendon.[citation needed]
## Causes[edit]
It is an overuse injury from repetitive overloading of the extensor mechanism of the knee. The microtears exceed the body's healing mechanism unless the activity is stopped.
Among the risk factors for patellar tendonitis are low ankle dorsiflexion, weak gluteal muscles, and muscle tightness, particularly in the calves, quadriceps muscle, and hamstrings.[5]
It may be associated with stiff ankle movement and ankle sprains.[6][7]
## Diagnosis[edit]
Diagnosis is generally based on symptoms and a physical examination.[2] Ultrasound or magnetic resonance imaging may help clarify how severe the problem is.[2]
## Treatment[edit]
Evidence for treatment is poor.[3] In the early stages rest, ice, compression, and elevation may be tried. Tentative evidence supports exercises involving eccentric muscle contractions of the quadriceps on a decline board.[8] Specific exercises and stretches to strengthen the muscles and tendons may be recommended, eg. cycling or swimming. Use of a strap for jumper's knee and suspension inlays for shoes may also reduce the problems. Corticosteroid injections and NSAIDs are generally recommended.[2]
### Procedures[edit]
Dry needling, sclerosing injections, platelet-rich plasma, extracorporeal shock wave treatment, and heat therapy have been tried.[2]
### Surgery[edit]
Surgery may be tried if other measures fail.[2] This may involve removal of myxoid degeneration in the tendon. This is reserved for people with severe pain for 6–12 months despite conservative measures. Novel treatment modalities targeting the abnormal blood vessel growth which occurs in the condition are currently being investigated.[citation needed] Knee operations in most cases have no better effects than exercise programs.[citation needed]
## Epidemiology[edit]
It is relatively common with about 14% of athletes currently affected.[1] Males are more commonly affected than females.[2]
## References[edit]
1. ^ a b c d e f g h i j k King, D; Yakubek, G; Chughtai, M; Khlopas, A; Saluan, P; Mont, MA; Genin, J (February 2019). "Quadriceps tendinopathy: a review-part 1: epidemiology and diagnosis". Annals of Translational Medicine. 7 (4): 71. doi:10.21037/atm.2019.01.58. PMC 6409230. PMID 30963066.
2. ^ a b c d e f g h i j k l m n o p q r s t u v w Santana, JA; Sherman, Al (January 2019). "Jumpers Knee". PMID 30422564. Cite journal requires `|journal=` (help)
3. ^ a b Mendonça, LM; Leite, HR; Zwerver, J; Henschke, N; Branco, G; Oliveira, VC (6 June 2019). "How strong is the evidence that conservative treatment reduces pain and improves function in individuals with patellar tendinopathy? A systematic review of randomised controlled trials including GRADE recommendations". British Journal of Sports Medicine. 54 (2): bjsports–2018–099747. doi:10.1136/bjsports-2018-099747. PMID 31171514.
4. ^ Saithna, Adnan; Gogna, Rajiv; Baraza, Njalalle; Modi, Chetan; Spencer, Simon (30 November 2012). "Eccentric Exercise Protocols for Patella Tendinopathy: Should we Really be Withdrawing Athletes from Sport? A Systematic Review". The Open Orthopaedics Journal. 6 (1): 553–557. doi:10.2174/1874325001206010553. ISSN 1874-3250. PMC 3522085. PMID 23248727.
5. ^ Koban M (2013). Beating Patellar Tendonitis. pp. 20–25. ISBN 978-1491049730.
6. ^ Marcus A (7 October 2011). "Stiff ankles tied to young athletes' painful knees". Reuters.
7. ^ Backman LJ, Danielson P (December 2011). "Low range of ankle dorsiflexion predisposes for patellar tendinopathy in junior elite basketball players: a 1-year prospective study". The American Journal of Sports Medicine. 39 (12): 2626–33. doi:10.1177/0363546511420552. PMID 21917610.
8. ^ Visnes H, Bahr R (April 2007). "The evolution of eccentric training as treatment for patellar tendinopathy (jumper's knee): a critical review of exercise programmes". British Journal of Sports Medicine. 41 (4): 217–23. doi:10.1136/bjsm.2006.032417. PMC 2658948. PMID 17261559.
## External links[edit]
Classification
D
* ICD-10: M76.5
* ICD-9-CM: 726.64
* DiseasesDB: 9704
External resources
* eMedicine: sports/56
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Patellar tendinitis
|
c0158317
| 25,224 |
wikipedia
|
https://en.wikipedia.org/wiki/Patellar_tendinitis
| 2021-01-18T18:37:52 |
{"umls": ["C0158317"], "wikidata": ["Q1755457"]}
|
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 disorders of glycosylation
|
c0282577
| 25,225 |
gard
|
https://rarediseases.info.nih.gov/diseases/10307/congenital-disorders-of-glycosylation
| 2021-01-18T18:01:10 |
{"mesh": ["D018981"], "orphanet": ["137"], "synonyms": ["CDG", "Carbohydrate-deficient glycoprotein syndromes", "Congenital disorder of glycosylation"]}
|
Ionasescu et al. (1984) described mother and daughter, aged 28 and 5 years, respectively, who showed mild to moderate weakness and atrophy of facial and shoulder muscles with congenital onset and minimal progression. Serum creatine kinase was elevated in the child. Muscle biopsy showed normal light-microscopic and histochemical findings, but scattered sarcoplasmic vacuoles with storage of granular material on electron microscopy. Granular material was identified also in fibroblasts. Cultured fibroblasts were shown to have excessive storage of glycosaminoglycans and glycoproteins. Cultured fibroblasts also showed a 1.7-3.4 times increased uptake of labeled glucosamine as compared with controls; the rate of turnover of the radioisotope was normal. The clinical picture was that of mild facioscapulohumeral muscular dystrophy with congenital onset and minimal progression. The authors cited 3 other reports, but all were sporadic cases which showed clinical features different from those in this mother and daughter (Karpati et al., 1969; Radu et al., 1974).
Muscle \- Mild facioscapulohumeral muscular dystrophy Misc \- Congenital onset and minimal progression Lab \- Elevated serum creatine kinase \- Muscle biopsy shows normal light-microscopic and histochemical findings \- Scattered sarcoplasmic vacuoles with storage of granular material on EM \- Excessive storage of glycosaminoglycans and glycoproteins in cultured fibroblasts Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
|
c1834532
| 25,226 |
omim
|
https://www.omim.org/entry/160570
| 2019-09-22T16:37:41 |
{"mesh": ["C563542"], "omim": ["160570"]}
|
## Summary
### Clinical characteristics.
Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms.
Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings.
Juvenile MLD. Onset is between age 30 months and 16 years. Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form.
Adult MLD. Onset occurs after age 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures initially predominate. Peripheral neuropathy is common. Disease course is variable – with periods of stability interspersed with periods of decline – and may extend over two to three decades. The final stage is similar to earlier-onset forms.
### Diagnosis/testing.
The diagnosis of MLD is established in a proband with progressive neurologic dysfunction, MRI evidence of leukodystrophy, or ARSA enzyme deficiency and identification of biallelic ARSA pathogenic variants on molecular genetic testing, or identification of elevated urinary excretion of sulfatides, or less commonly, identification of metachromatic lipid deposits in nervous system tissue.
### Management.
Treatment of manifestations: Physical therapy and an enriched environment to maximize intellect, neuromuscular function, and mobility; family support to enable parents and/or caregivers to anticipate decisions on walking aids, wheelchairs, feeding tubes, and other changing care needs; treatment of seizures using antiepileptic drugs in standard protocols; treatment of contractures with muscle relaxants. Standard treatments for gastroesophageal reflux, constipation, drooling, dental care, pulmonary function, and impaired vison.
Prevention of primary manifestations: Hematopoietic stem cell transplantation (HSCT) is the only therapy for primary central nervous system manifestations. Outcomes depend on the clinical stage and the presence of neurologic symptoms. The best results are observed when HSCT is performed in pre- and very early symptomatic individuals with the juvenile or adult form of the disease. HSCT is not recommended for individuals with symptomatic, late-infantile MLD.
Prevention of secondary complications: Therapies designed to prevent decline in mobility, cognitive ability, communication, or food intake; safety measures for movement limitations and seizure precautions.
Surveillance: Regular monitoring by a neurologist or metabolic geneticist including evaluation for changes in motor function, development of seizures, contractions, feeding difficulties, and disease progression following anesthesia or fever; periodic brain MRI examination.
### Genetic counseling.
MLD 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 of at-risk family members and prenatal testing for a pregnancy at increased risk are possible if both ARSA pathogenic variants have been identified in an affected family member.
## Diagnosis
### Suggestive Findings
Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) should be suspected in individuals with the following:
* Progressive neurologic dysfunction. Presenting signs may be behavioral or motor. Symptoms can occur at any age beyond one year and follow a period of normal development.
* MRI evidence of a leukodystrophy. Diffuse symmetric abnormalities of periventricular myelin with hyperintensities on T2-weighted images. Initial parieto-occipital preponderance is observed in most individuals with late-infantile MLD, with subcortical U-fibers and cerebellar white matter spared. The abnormal white matter is often described as having a tigroid pattern or radial stripes. As the disease progresses, MRI abnormalities become more pronounced in a rostral-to-caudal progression and cerebral atrophy develops [Groeschel et al 2011]. Anterior lesions may be more common initially in individuals with later onset. Not all persons with MLD show white matter lesions initially. Isolated cranial nerve enhancement preceding intraparenchymal white matter involvement has been reported [Morana et al 2009, Singh et al 2009].
* Arylsulfatase A (ARSA) enzyme deficiency. ARSA activity in leukocytes that is less than 10% of normal controls using the usual synthetic-substrate-based assay. Decreased ARSA activity is not sufficient for the diagnosis of MLD, as it may reflect ARSA pseudodeficiency.
Note: (1) The use of low-temperature assays can minimize interference by other arylsulfatases and lower the baseline level [Rip & Gordon 1998]. (2) Cultured skin fibroblasts have often been used to confirm deficiency of ARSA enzyme activity and to evaluate the capacity of intact cells for sulfatide breakdown (sulfatide loading test). Such testing is usually not necessary for establishing the diagnosis but can be useful when the diagnosis is ambiguous (pseudodeficiency vs late-onset MLD) or is being made presymptomatically. (3) Enzyme activity and sulfatide loading can be performed in cultured amniocytes or CVS cells for prenatal diagnoses; see Genetic Counseling, Prenatal Testing and Preimplantation Genetic Testing.
ARSA enzyme pseudodeficiency. Pseudodeficiency is suggested by ARSA enzyme activity in leukocytes that is 5% to 20% of normal controls. Pseudodeficiency is difficult to distinguish from true ARSA enzyme deficiency by biochemical testing alone.
Note: For MLD the term "pseudodeficiency" refers to very low levels of ARSA enzyme activity in an otherwise healthy individual. The term has been applied to other enzyme deficiency disorders, such as hexosaminidase A deficiency, where specific variants are associated with reduced enzymatic activity when measured using synthetic substrate but have normal enzymatic activity when measured using a natural substrate.
Newborn screening for MLD based on enzyme activity has been difficult due to the high occurrence of ARSA enzyme pseudodeficiency and the inability to distinguish MLD from pseudodeficiency. A mass spectrometry-based method to quantify sulfatides in dried blood and urine spots has been developed [Spacil et al 2016] and a large-scale pilot study for newborn screening to evaluate this method for sulfatide analysis in dried blood spots has begun at the University of Washington, Seattle.
### Establishing the Diagnosis
The diagnosis of arylsulfatase A deficiency (metachromatic leukodystrophy, MLD) is established in a proband by the presence of suggestive findings (e.g., progressive neurologic dysfunction, MRI evidence of leukodystrophy, or ARSA enzyme deficiency) and ANY of the following:
* Identification of biallelic ARSA pathogenic variants on molecular genetic testing (see Table 1)
* Identification of increased urinary excretion of sulfatides
* Identification of metachromatic lipid deposits in a nerve or brain biopsy
#### Molecular Genetic Testing
Three classes of ARSA alleles resulting in low ARSA enzyme activity need to be distinguished (see Genotype-Phenotype Correlations):
* ARSA pathogenic variants that cause MLD (ARSA-MLD alleles) in the homozygous or compound heterozygous state
* ARSA alleles with sequence variants resulting in pseudodeficiency (ARSA-PD)
* Alleles with two ARSA sequence variants on the same chromosome (cis configuration). For example, individuals can have ARSA-MLD and ARSA-PD alleles in cis.
Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing. Parental testing may be necessary to determine the phase of the identified variants in the proband:
* Single-gene testing. Sequence analysis of ARSA is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
* Use of a multigene panel that includes ARSA and other genes of interest (see Differential Diagnosis) can be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. 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 Arylsulfatase A Deficiency
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
ARSASequence analysis 390%-95% 4, 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\.
Four pathogenic variants (c.465+1G>A, c.1210+1G>A, p.Pro428Leu, and p.Ile181Ser) account for 25%-50% of the ARSA pathogenic variants in individuals of central and western European ancestry (see Table 4).
5\.
Using scanning for pathogenic variants, Gort et al [1999] identified all of the ARSA pathogenic variants in 18 unrelated affected persons of Spanish heritage.
6\.
This test method also detects the ARSA pseudodeficiency alleles (termed ARSA-PD), common variants that result in lower-than-average ARSA enzyme activity but do not cause MLD either in the homozygous state or in the compound heterozygous state with an ARSA-MLD allele.
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\.
Complete deletion of ARSA associated with MLD has been reported [Coulter-Mackie et al 1995, Eng et al 2004, Bisgaard et al 2009]. No instances of whole-gene duplication are known. Dispermic chimeris, in which two copies of ARSA were transmitted by the father, has been reported [Coulter-Mackie et al 2001].
#### Urinary Sulfatides
All types of MLD excrete abnormally high sulfatides in urine. These can be quantified by high-performance liquid chromatography (HPLC), mass spectrometry, and thin-layer chromatography (TLC). TLC is a semi-quantitative method. For HPCL and mass spectrometry, reference and pathologic values vary by laboratory. Because urine production is highly variable, sulfatide excretion is measured in a 24-hour urine sample or normalized to the urinary excretion of creatinine. ARSA-PD/ARSA-MLD compound heterozygotes can excrete higher-than-normal amounts of sulfatides but urinary sulfatide excretion is not as elevated as in individuals with MLD (usually >10x normal).
Note: Elevated urine sulfatides and ARSA enzyme deficiency in the presence of dysmorphic features, dysostosis multiplex, or ichthyosis should prompt evaluation for multiple sulfatase deficiency (see Differential Diagnosis).
#### Metachromatic Lipid Deposits in a Nerve or Brain Biopsy
Sulfatides interact strongly with certain positively charged dyes used to stain tissues, resulting in a shift in the color of the stained tissue termed metachromasia. When frozen tissue sections are treated with acidified cresyl violet (Hirsch-Peiffer stain), sulfatide-rich storage deposits stain a golden brown. The finding of metachromatic lipid deposits in nervous system tissue is pathognomonic for MLD.
Note: (1) Fixing the tissue with alcohol before staining extracts the sulfatides such that the metachromasia is no longer observed. (2) Although still considered by some to be the diagnostic "gold standard" for MLD, this highly invasive approach is now used only in exceptional circumstances (e.g., confirmation of a prenatal diagnosis of MLD following pregnancy termination).
## Clinical Characteristics
### Clinical Description
The clinical presentation of arylsulfatase A deficiency (metachromatic leukodystrophy, MLD) is heterogeneous with respect to the age of onset, the rate of progression, and the initial symptoms. Three clinical subtypes of MLD are primarily distinguished by age of onset:
* Late-infantile MLD, comprising 50%-60% of affected individuals
* Juvenile MLD, approximately 20%-30%
* Adult MLD, approximately 15%-20%
The age of onset within a family is usually similar, but exceptions occur [Arbour et al 2000]. Although the presenting symptoms and age of onset vary, all individuals eventually develop complete loss of motor, sensory, and intellectual functions. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms [Von Figura et al 2001]. Death most commonly results from pneumonia or other infection. Life span correlates roughly with the age of onset but can be quite variable, particularly in the later-onset forms.
Late-infantile MLD. Age of onset is before age 30 months, following a period of apparently normal development. In the initial stage, weakness, hypotonia, and depressed deep tendon reflexes are observed. Clumsiness, frequent falls, toe walking, and dysarthria are other typical presenting signs. Symptoms may first be noted following anesthesia or a febrile illness and may subside for weeks before continuing to progress. Less commonly, seizures are the first neurologic sign. Out of 38 individuals reported with late-infantile MLD, 61% presented with motor or gait abnormalities and 39% of individuals presented with seizures [Mahmood et al 2010]. Seventy-five percent of individuals show first motor symptoms before age 18 months [Kehrer et al 2011a]. Peripheral neuropathy with slow nerve conduction velocities (NCVs) is common. Brain auditory and visual evoked response testing demonstrate impairment in hearing and vision.
As the disease progresses, language, cognitive development, and gross- and fine-motor skills regress. Peripheral neuropathy can lead to pain in the arms and legs. In one study, individuals with the late-infantile form had lost the ability to sit without support and to move by age three years, and all had lost both trunk and head control by age three years four months [Kehrer et al 2011a]. Eventually spasticity becomes prominent and bulbar involvement can result in airway obstruction and feeding difficulties requiring gastrostomy tube placement. Generalized or partial seizures can occur and vision and hearing become progressively compromised. Eventually, the child becomes bedridden with tonic spasms, decerebrate posturing, and general unawareness. Most children die within five years after the onset of symptoms, although survival can extend into the second decade of life with current levels of care.
Juvenile MLD. Age of onset is between ages 30 months and 16 years with a median age of six years two months [Kehrer et al 2011a]. Symptoms start insidiously with a decline in school performance, abnormal behaviors, or psychiatric symptoms. In published reports of individuals with juvenile MLD, 66% presented with inattention and difficulties at school, 26% with gait difficulties, 18% with tremor or ataxia, 13% with neuropathy, and 5% with seizures [Mahmood et al 2010]. Early- and late-juvenile subvariants are sometimes differentiated, neuromuscular difficulties developing first in individuals with earlier-onset MLD and behavioral issues developing first in individuals with later-onset MLD.
Progression is similar to but slower than in the late-infantile form. The rate of motor deterioration can be quite variable [Kehrer et al 2011a]. The majority of individuals die before age 20 years, but survival is quite variable.
Adult MLD. Symptoms are first noted after sexual maturity (age ~16 years) but may not occur until the fourth or fifth decade. As with juvenile MLD, presenting symptoms vary. Initial signs are often emerging problems in school or job performance. Alcohol or drug use, poor money management, emotional lability, inappropriate affect, and frank psychosis often lead to psychiatric evaluation and an initial diagnosis of dementia, schizophrenia, or depression. In others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) predominate initially, leading to diagnosis of multiple sclerosis or other neurodegenerative diseases. Among published cases of adult MLD, 72% presented with dementia and behavioral difficulties, 16% with psychosis and schizophrenia, 28% with neuropathy, and 12% with seizures [Mahmood et al 2010]. Peripheral neuropathy, though a frequent aspect of adult-onset MLD, is not present in all individuals.
The course is variable. Periods of relative stability may be interspersed with periods of decline. Inappropriate behaviors and poor decision making become problems for the family or other caregivers. Dressing and other self-help skills deteriorate. Eventually, bowel and bladder control is lost. As the disease advances, dystonic movements, spastic quadriparesis, or decorticate posturing occurs. Severe contractures and generalized seizures may occur. The duration of the disease ranges from several years to decades.
Other findings in MLD
* In the past, findings of increased concentration of cerebrospinal fluid protein, decreased NCVs, and abnormal auditory and visual evoked potential studies were used in diagnosis. While such tests are no longer necessary for diagnosis, they may be used in protocols for monitoring disease progression or therapeutic trials. Notably, nerve conduction abnormalities, which are almost universal in individuals with MLD, can be present before clinical symptoms appear.
* Outside the central nervous system, sulfatide accumulation has been found in other organs. In the gallbladder, hyperplastic polyps are common and hemobilia as well as gallbladder carcinoma have been reported as complications [Garavelli et al 2009, van Rappard et al 2016b]. Polypoid masses in stomach and duodenum complicated by intestinal intussusception have also been reported [Yavuz & Yuksekkaya 2011].
Pathogenesis. Arylsulfatase A deficiency is a disorder of impaired breakdown of sulfatides (cerebroside sulfate or 3-0-sulfo-galactosylceramide), sulfate-containing lipids that occur throughout the body and are found in greatest abundance in nervous tissue, kidneys, and testes. Sulfatides are critical constituents in the nervous system, where they comprise approximately 5% of the myelin lipids. Sulfatide accumulation in the nervous system eventually leads to myelin breakdown (leukodystrophy) and a progressive neurologic disorder [Von Figura et al 2001].
### Genotype-Phenotype Correlations
ARSA enzyme activity
* The genotypes ARSA-MLD/ARSA-MLD, ARSA-PD-MLD/ARSA-MLD, and ARSA-PD-MLD/ARSA-PD-MLD result in ARSA enzyme activity that is 0%-10% of control values in synthetic-substrate-based assays.
* The genotype ARSA-PD/ARSA-MLD usually results in ARSA enzyme activity that is approximately 10% of control values, while the genotype ARSA-PD/ARSA-PD results in ARSA enzyme activity that is approximately 10%-20% of control values.
Age of onset of MLD
* Early-onset (late-infantile) MLD. Affected individuals are usually homozygous or compound heterozygous for ARSA-MLD alleles that make no detectable functional arylsulfatase A enzyme (I-type or null alleles) [Cesani et al 2009]. The most common I-type alleles are c.465+1G>A, c.1210+1G>A, and p.Asp257His.
* Later-onset MLDs. Affected individuals have one or two ARSA-MLD alleles that encode for an arylsulfatase A enzyme with some residual functional activity (≤1% when assayed with physiologic substrates) known as R-type alleles. The most common R-type ARSA-MLD alleles are p.Ile181Ser and p.Pro428Leu [Fluharty et al 1991]:
* Juvenile-onset MLD. Often these individuals are compound heterozygous for an I-type and an R-type allele.
* Adult-onset MLD. Both alleles provide some residual enzyme activity (R-type ARSA-MLD alleles).
Adult MLD subtypes
* Neurologic type. Affected individuals are usually homozygous for the p.Pro428Leu R-type ARSA-MLD allele [Rauschka et al 2006].
* Psychiatric type. Affected individuals are usually compound heterozygous for the p.Ile181Ser allele and any other R-type ARSA-MLD allele [Rauschka et al 2006].
There are substantial limitations to the use of these genotype-phenotype correlations in predicting the clinical presentation and natural history of an affected individual. The predictive value is best for individuals homozygous for two I-type alleles, but individuals with one or two R-type alleles show considerable phenotypic variability, implicating other genetic and/or environmental factors [Wang et al 2011]. Notably, additional variants in the same allele can further affect enzyme function and disease severity [Regis et al 2002].
Arylsulfatase A (ARSA) pseudodeficiency
* ARSA-MLD/ARSA-PD genotype. Associated ARSA enzyme activity is 5% to 10% of normal controls:
* The polyadenylation site variant, c.*96A>G, appears to contribute most strongly to the low ARSA enzyme activity characteristic of clinical pseudodeficiency [Harvey et al 1998].
* p.Asn352Ser, the glycosylation site alteration, is associated with an increased excretion of the newly synthesized enzyme from cells and a possible decrease in the ARSA enzyme within the lysosome [Harvey et al 1998].
* The most common ARSA-PD allele in the European and American populations has these two sequence variants in cis configuration (i.e., on the same chromosome), designated as c.[1055A>G; *96A>G].
* ARSA-PD/ARSA-PD genotype
* Homozygosity for the c.*96A>G pathogenic variant (almost always in conjunction with p.Asn352Ser) is associated with ARSA enzyme activity that is approximately 10% of normal controls and could result in diagnostic uncertainty.
* Homozygosity for the p.Asn352Ser pathogenic variant alone results in 50% or more of the mean control ARSA enzyme activity in leukocytes.
### Nomenclature
The term metachromatic leukodystrophy (metachromatischen Leukodystrophien) was first used by Peiffer [1959] to describe what had previously been known as "diffuse brain sclerosis."
The term "metachromatic leukoencephalopathy" has also been used.
MLD has also been referred to as "Greenfield's disease" after the first report of the late-infantile form of MLD.
### Prevalence
Arylsulfatase A deficiency. The overall prevalence of arylsulfatase A deficiency has been reported at between 1:40,000 and 1:160,000 in different populations [Von Figura et al 2001]. Assuming the prevalence stated, the overall carrier frequency is between 1:100 and 1:200. The disorder is pan ethnic; however, most data come from European and North American populations. Males and females are affected equally and there is no difference in survival.
Based on their determination of carrier status for the most common ARSA pathogenic variants in two large (>~3000-person) samples of the Polish population, Ługowska et al [2011] estimated the birth incidence at 4.1:100,000 live births. Comparing this to the incidence calculated from the number of individuals with MLD diagnosed from 1975 to 2004 (0.38:100,000), they suggest that metachromatic leukodystrophy may be substantially underdiagnosed in the Polish population.
In the following consanguineous populations, the disease prevalence can be much higher (figures are approximate):
* 1:75 in Habbanite Jews in Israel
* 1:8,000 in Israeli Arabs
* 1:2,500 in Eskimos
* 1: 6,400 for the western portion of the Navajo Nation in the US
ARSA-PD alleles. The homozygous ARSA-PD genotype occurs in as many as 0.5%-2% of the European/Euro-American population and may be even more common in Asian and African populations. Thus, an ARSA-PD homozygous genotype is more than 400-fold more common than the ARSA-MLD homozygous genotype, and an ARSA-PD/ARSA-MLD compound heterozygous genotype is 30- to 50-fold more common than the ARSA-MLD homozygous genotype.
An ARSA-MLD variant is as likely to be found on an ARSA-PD allele as on a wild type allele, implying that 0.5%-1% of ARSA-PD alleles are associated with a cis ARSA-MLD variant (so-called ARSA-MLD-PD alleles).
## Differential Diagnosis
Arylsulfatase A deficiency. The two phenotypes that show notable overlap with arylsulfatase A deficiency are multiple sulfatase deficiency and saposin B deficiency (Table 2).
### Table 2.
Disorders to Consider in the Differential Diagnosis of Arylsulfatase A Deficiency
View in own window
DisorderAge at OnsetMain Clinical ManifestationsUrinary ExcretionEnzyme Activity
Multiple sulfatase deficiency1-4 yrs, probably variableMLD-like clinical picture w/↑ CSF protein & slowed NCVs; MPS-like features, & ichthyosis↑ sulfatide & mucopolysaccharidesVery low ARSA enzyme activity; deficiency of most sulfatases in leukocytes or cultured cells 1
Saposin B deficiency
(OMIM 249900)VariableMLD-like clinical picture↑ sulfatide & other glycolipidsARSA enzyme activity in normal range
CSF = cerebrospinal fluid; MPS = mucopolysaccharidosis; NCV = nerve conduction velocity
1\.
Including arylsulfatase B, arylsulfatase C, galactose-6 sulfatase, glucuronate-2 sulfatase, iduronate sulfatase, heparan-N-sulfamidase, and N-acetylglucosamine-6 sulfatase.
Other ARSA deficiency conditions. ARSA enzyme activity is also deficient in many tissues in defects of the phosphomannosyl lysosomal recognition pathway, such as I-cell disease (mucolipidosis II). The phenotype in I-cell disease is severe in infancy and is not likely to be confused with arylsulfatase A deficiency.
Other leukodystrophies and lysosomal storage diseases. MLD is difficult to differentiate from other progressive degenerative disorders that manifest after a period of normal development. Delayed development in late infancy, coupled with loss of acquired abilities, should prompt MRI evaluation. If a generalized leukodystrophy is evident, other conditions to consider include: Krabbe disease, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, fucosidosis (OMIM 230000), Canavan disease, and gangliosidoses such as hexosaminidase A deficiency (including Tay-Sachs disease).
Although some mucopolysaccharidoses can have a similar presentation to arylsulfatase A deficiency, the characteristic physical features seen in most mucopolysaccharidoses (i.e., short stature, dysostosis multiplex, coarse facial appearance, corneal clouding, hepatosplenomegaly, pulmonary congestion, and heart problems) are not found in individuals with MLD. The evaluation of appropriate lysosomal enzymes can distinguish the disorders.
Arylsulfatase A pseudodeficiency. Because of the high prevalence of the ARSA-PD alleles, low ARSA enzyme activity caused by arylsulfatase pseudodeficiency can be found in association with many disorders and can be erroneously implicated in individuals diagnosed with common psychiatric or neurologic disorders.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with arylsulfatase A deficiency (metachromatic leukodystrophy, MLD), the following evaluations are recommended:
* If the diagnosis is made presymptomatically, baseline measures of ARSA enzyme activity, urinary sulfatide excretion, and myelin integrity by MRI to monitor disease progression and evaluate the need for possible intervention
* For those identified presymptomatically or predicted to have late-onset MLD, referral for HSCT evaluation, preferably at an institution with expertise in allogenic HSCT in individuals with metabolic disorders
* Baseline assessment of development/cognitive abilities and behavior to monitor disease progression or changes with attempted therapy
* Peripheral nervous system evaluation
* Hearing assessment
* Visual assessment
* Consultation with a clinical or biochemical geneticist and/or genetic counselor
Guidelines. See Wang et al [2011] for clinical follow-up recommendations. Click here for full text.
### Treatment of Manifestations
Whether the intent is to prolong life or to let the disease run its natural course, an extended period of nursing care with changing needs can be anticipated. Supportive therapies to maximize the retention of physical and neuromuscular functions help avoid many end-stage care problems.
Every effort should be made to maintain intellectual abilities, neuromuscular function, and mobility as long as possible. Provision of an enriched environment and an aggressive physical therapy program provides an optimized quality of life at all stages of the disease. The parents and/or caregivers should be aware of the likely progression of the disorder to anticipate decisions concerning walking aids, car seats, wheelchairs, suction equipment, swallowing aids, feeding tubes, and other supportive measures.
Seizures and contractures should be treated with antiepileptic drugs and muscle relaxants, respectively. Gastroesophageal reflux, constipation, and drooling are common problems that may be helped by specific medical or surgical interventions.
The Evanosky Foundation has a very helpful document, Suggestions for Caring for a Child with MLD (pdf), based on their family’s experience.
Because MLD affects the whole family, management should include a team of professionals to provide genetic counseling and family support through what is often a long disease process. Even children with late-infantile MLD may survive for five to ten years with progressive loss of function and continually changing care needs.
Affected individuals remain susceptible to the full range of childhood and adult diseases. A pediatrician or family physician should be involved in developing comprehensive care plans –including the usual regime of age-appropriate vaccinations, flu shots, nutritional support, and other typical medical care. Dental care is important and is often difficult to obtain. Pulmonary function and vision may also need attention.
It is important for most families to develop a network of support services and establish contact with other families who have faced similar situations.
### Prevention of Primary Manifestations
Hematopoietic stem cell transplantation (HSCT) is an available therapy that attempts to treat the primary central nervous system (CNS) manifestations of MLD. Despite significant improvement in allogeneic transplantation, this therapy remains controversial because:
* Systematic outcome data are limited and difficult to generalize due the use of different eligibility criteria and transplantation protocols;
* Outcome data from older cohorts do not predict current outcomes given constantly improving transplant-related morbidity and mortality due to advances in donor-recipient HLA typing and matching, conditioning, infectious disease detection and management, and the use of non-carrier donors; and
* Different types of MLD have shown different responses.
However, in the absence of alternative approaches, HSCT needs to be discussed with families, particularly with those with slower progressing, late-onset forms of MLD. At-risk relatives can be diagnosed by biochemical or molecular genetic testing before symptoms occur and could benefit most from this intervention. Despite mounting evidence of utility, HSCT is not expected to fully abrogate the manifestations of the disease.
Late-infantile MLD. Allogenic HSCT even at a presymptomatic stage has been shown to be ineffective and is not recommended [Bredius et al 2007, van Rappard et al 2016a]. Disease progression in late-infantile MLD is faster than the pace of engraftment and subsequent CNS migration of bone marrow-derived monocyte/macrophages, even in clinically asymptomatic individuals.
Juvenile and adult MLD. Taken together the data support that HSCT is a relatively safe procedure for individuals with pre- and early symptomatic MLD with the juvenile or adult form of the disease [Görg et al 2007, Pierson et al 2008, Cable et al 2011, Krägeloh-Mann et al 2013, Martin et al 2013, Solders et al 2014, Boucher et al 2015, Chen et al 2016, Groeschel et al 2016, van Rappard et al 2016a]. In these clinical types, HSCT can result in disease stabilization and high disease-burden-free survival. Compared with nontransplanted individuals, the transplanted individuals are less likely to lose their gross motor or language function and demonstrate significantly lower MRI severity scores. Motor and cognitive function at the time of HSCT evaluation are good predictors of outcome: Van Rappard et al [2016a] propose that patients with affected motor (inability to walk without support) and cognitive (IQ <75) function receive no benefit from HSCT. Brain stem auditory evoked responses, visual evoked potentials, electroencephalogram, and/or peripheral nerve conduction velocities have been shown to stabilize or improve in individuals with juvenile MLD [Martin et al 2013]. Long-term neuroimaging after HSCT suggest that remyelination occurs [Ding et al 2012].
Regardless of clinical type, HSCT should not be offered to individuals with significant neurologic involvement at the time of evaluation. Engraftment has been shown to require myeloablative conditioning most commonly utilizing full-dose busulfan, which crosses the blood-brain barrier [Boelens & van Hasselt 2016]. This can result in further neurologic decline.
### Prevention of Secondary Complications
Therapies designed to prevent decline in mobility, cognitive ability, communication, or food intake are considered to be most beneficial by caregivers and physicians [Eichler et al 2016].
Implement safety measures for gait or movement limitations as well as seizure precautions.
Affected individuals remain susceptible to the full range of childhood and adult diseases. The pediatrician or general care physician should be involved in developing comprehensive care plans.
For further information on the specific nursing care requirements for those with MLD who undergo HCST or in late stages of the disease, see Barrell [2007].
Anesthesia (if required) should be administered by an experienced anesthesiologist: exacerbation of symptoms has been noted following anesthesia, as affected individuals may have altered responses to sedatives and anesthetics [Mattioli et al 2007, Birkholz et al 2009, Cappuccio et al 2013].
### Surveillance
Individuals with MLD should be followed at regular intervals by a neurologist and a metabolic geneticist.
Periodic brain MRI examination to monitor the status of CNS demyelination should be performed. The MLD MR severity scoring method can be used to provide a measure of brain involvement in these individuals [Eichler et al 2009] to allow for monitoring disease evolution and response to therapy.
Monitor for changes in motor function that could indicate a need to alter care and support systems (e.g., introduction of walking aids and/or a wheelchair). A classification system for gross motor function for children with MLD (GMFC-MLD) has been developed and tested by Kehrer et al [2011b]; it can be used to monitor the course of the disease and should prove useful in evaluating and comparing therapeutic trials.
Monitor for onset of seizures and/or contractures, which could indicate a need to change medical management and physical therapy.
Monitor for difficulties with feeding or swallowing. Monitor nutritional needs and need for gastrostomy tube placement.
Special attention is indicated following general anesthesia or an infection with a high fever as these may trigger exacerbation of disease progression.
### Agents/Circumstances to Avoid
While environmental factors are thought to influence the onset and severity of MLD symptoms, no specific exacerbating agents are known. Initial symptoms are often noted following a febrile illness or other stress, but it is unclear if a high fever actually accelerates progression.
Excessive alcohol and drug use are often associated with later-onset MLD, but it is unclear if this is caused by the disease or is simply an attempt at self-medication in the face of increasing cognitive difficulties [Alvarez-Leal et al 2001].
### Evaluation of Relatives at Risk
It is appropriate to consider evaluation of apparently asymptomatic sibs of a proband to identify those who could potentially benefit from hematopoietic stem cell transplantation (HSCT) and other experimental treatment options. Although substantial risk is involved and long-term effects are unclear, the best clinical outcomes are obtained when HSCT occurs before clinical symptoms have appeared; see Prevention of Primary Manifestations.
Evaluations can include the following:
* Perform molecular genetic testing if the pathogenic variants in the family are known.
* If the pathogenic variants in the family are not known, work up should begin with measurement of urinary excretion of sulfatides.
* Measurement of ARSA in peripheral blood leukocytes or cultured fibroblasts can support the diagnosis but is not sufficient by itself. See Suggestive Findings, ARSA enzyme pseudodeficiency.
* Presymptomatically identified individuals should be followed regularly by a neurologist and a metabolic geneticist.
* Those predicted to have juvenile and late-onset MLD based on family history or genotype should be referred for HSCT evaluation.
* Periodic brain MRI examination to monitor the status of CNS demyelination to allow for scoring and monitoring of response to therapy.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Attempts at improving the effectiveness of HSCT include genetic modification of autologous hematopoietic stem and progenitor cells using gene therapy, combination with intrathecal enzyme replacement, or intrathecal cell transplantation.
Ex vivo gene therapy. Gene therapy is the delivery of genetic material using viral vectors to an individual’s cells or tissue for therapeutic purposes; it can be accomplished using ex vivo or in vivo approaches. Ex vivo modification of autologous hematopoietic stem and progenitor cells using a lentivirus expressing functional ARSA enzyme is currently being tested in Phase I/II clinical trials with promising results. An ad hoc analysis of the "TIGET-MLD" trial (ClinicalTrials.gov) was published [Sessa et al 2016]. It describes nine children with a diagnosis of early-onset disease (6 had late-infantile disease, 2 had early-juvenile disease, and 1 had early-onset disease that could not be definitively classified). At the time of analysis, all children had survived, with a median follow up of 36 months (range 18-54 months). The studies showed reconstitution of ARSA activity in hematopoietic cells and in the cerebrospinal fluid. Compared to historical untreated controls, eight individuals, seven of whom received treatment when presymptomatic, had prevention of disease onset or halted disease progression. The Gross Motor Function Measurement (GMFM) scores for six individuals was like that of normally developing children. Electroneurographic studies of peripheral nerves documented improvement in three individuals.
In vivo gene therapy. Allogeneic HSCT and autologous HSCT with gene-corrected cells is showing great benefit, primarily in presymptomatic individuals. These are promising therapies for individuals identified at presymptomatic stages with a family history of MLD or perhaps individuals identified on future newborn screening. Unfortunately, most individuals diagnosed with MLD have no family history of MLD. Hence, most children with severe forms of MLD would not be diagnosed at the presymptomatic phase of the disease, making it unlikely for this therapeutic option to be offered or effective for many individuals with MLD. Accordingly, there is a need for therapies that can get to the brain quickly. One way to achieve this is with in vivo gene therapy via intrathecal or intracerebral delivery of viral vectors. TG-MLD (ClinicalTrials.gov) is testing the delivery of an adeno-associated virus serotype rh.10 (AAVrh.10) vector to transfer the cDNA coding for ARSA enzyme in children affected with early onset forms of MLD.
Enzyme replacement therapy (ERT). An alternative to in vivo gene therapy is ERT. For the most part ERT has been considered impractical because of the difficulty of bypassing the blood-brain barrier. Clinical testing of intravenous recombinant human enzyme was discontinued in 2010 after a Phase I/II study failed to show substantial improvement (see Shire HGT MLD Update 2010). However, different forms of human ARSA enzyme are now available, and animal studies suggest that it may be a useful supplement for HSCT [Martino et al 2005, Matzner et al 2005]. Intrathecal delivery of the enzyme is being tested in individuals with late infantile form (ClinicalTrials.gov). The efficacy and safety of intravenous ERT is being tested in an individual with late infantile MLD who had received HSCT at a presymptomatic stage of the disease (ClinicalTrials.gov).
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.
Other: therapies under preclinical investigation
* Intracerebral delivery of AAV5 vector encoding human ARSA in non-human primates [Colle et al 2010]
* Enzyme replacement using a single intracerebroventricular injection of self-complementary AAV1 vector in the CSF in a mouse model of MLD [Hironaka et al 2015]
* Neonatal systemic injection of an AAV serotype 9 vector in an MLD mouse model [Miyake et al 2014]
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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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Arylsulfatase A Deficiency
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c2713319
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gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK1130/
| 2021-01-18T21:42:40 |
{"mesh": ["D007966"], "synonyms": ["ARSA Deficiency", "Metachromatic Leukodystrophy"]}
|
Infectious disease caused by Brazilian mammarenavirus
Brazilian hemorrhagic fever
SpecialtyInfectious disease
Brazilian mammarenavirus
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Negarnaviricota
Class: Ellioviricetes
Order: Bunyavirales
Family: Arenaviridae
Genus: Mammarenavirus
Species:
Brazilian mammarenavirus
Synonyms
* Sabiá mammarenavirus[1]
* Sabiá virus[2]
* SPH 114202 virus[3]
Brazilian hemorrhagic fever (BzHF) is an infectious disease caused by Brazilian mammarenavirus, an arenavirus.[4] Brazilian mammarenavirus is one of the arenaviruses from South America to cause hemorrhagic fever.[5] It shares a common progenitor with Argentinian mammarenavirus, Machupo mammarenavirus, Tacaribe mammarenavirus, and Guanarito mammarenavirus.[5] It is an enveloped RNA virus and is highly infectious and lethal.[6] Very little is known about this disease, but it is thought to be transmitted by the excreta of rodents.[4][6] This virus has also been implicated as a means for bioterrorism, as it can be spread through aerosols.[7]
As of 2019, there had only been four documented infections of Brazilian mammarenavirus: two occurred naturally, and the other two cases occurred in the clinical setting.[8] The first naturally occurring case was in 1990, when a female agricultural engineer who was staying in the neighborhood of Jardim Sabiá in the municipality of Cotia, a suburb of São Paulo, Brazil contracted the disease(The virus is also known as "Sabiá Virus").[9] She presented with hemorrhagic fever and died.[4] Her autopsy showed liver necrosis.[4] A virologist who was studying the woman's disease contracted the virus but survived.[4] Ribavirin was not given in these first two cases.[4] Four years later, in 1994, a researcher was exposed to the virus in a level 3 biohazard facility at Yale University when a centrifuge bottle cracked, leaked, and released aerosolized virus particles.[4][10] He was successfully treated with ribavirin.[4][11]
A fifth case, also naturally acquired in upstate São Paulo, was reported in January 2020.[12] The patient died 12 days after the onset of symptoms.[13]
## Treatment[edit]
Ribavirin is thought to be effective in treating the illness, similar to other arenaviruses.[4][11] Compared to the patients who did not receive ribavirin, the patient who was treated with it had a shorter and less severe clinical course.[4] Symptomatic control such as fluids to address dehydration and bleeding may also be required.[11]
Brazilian mammarenavirus is a biosafety Level 4 pathogen.[6]
## References[edit]
1. ^ Siddell, Stuart (April 2017). "Change the names of 43 virus species to accord with ICVCN Code, Section 3-II, Rule 3.13 regarding the use of ligatures, diacritical marks, punctuation marks (excluding hyphens), subscripts, superscripts, oblique bars and non-Latin letters in taxon names" (ZIP). International Committee on Taxonomy of Viruses (ICTV). Retrieved 29 April 2019.
2. ^ Buchmeier, Michael J.; et al. (2 July 2014). "Rename one (1) genus and twenty-five (25) species in the family Arenaviridae" (PDF). International Committee on Taxonomy of Viruses (ICTV). Retrieved 29 April 2019. "Sabiá virus Sabiá mammarenavirus Sabiá virus"
3. ^ ICTV 7th Report van Regenmortel, M.H.V., Fauquet, C.M., Bishop, D.H.L., Carstens, E.B., Estes, M.K., Lemon, S.M., Maniloff, J., Mayo, M.A., McGeoch, D.J., Pringle, C.R. and Wickner, R.B. (2000). Virus taxonomy. Seventh report of the International Committee on Taxonomy of Viruses. Academic Press, San Diego. p638 https://talk.ictvonline.org/ictv/proposals/ICTV%207th%20Report.pdf
4. ^ a b c d e f g h i j Barry, M.; Russi, M.; Armstrong, L.; Geller, D.; Tesh, R.; Dembry, L.; Gonzalez, J. P.; Khan, A. S.; Peters, C. J. (1995). "Treatment of a Laboratory-Acquired Sabiá Virus Infection". N Engl J Med. 333 (5): 317–318. doi:10.1056/NEJM199508033330505. PMID 7596373.
5. ^ a b GONZALEZ, JEAN PAUL J. (1996). "Genetic Characterization and Phylogeny of Sabiá Virus, an Emergent Pathogen in Brazil". Virology. 221 (2): 318–324. doi:10.1006/viro.1996.0381. PMID 8661442.
6. ^ a b c "NRT Quick Reference Guide: Brazilian Hemorrhagic Fever (BzHF)" (PDF). Archived from the original (PDF) on 2012-02-26. Retrieved 2009-08-16.
7. ^ "Viral Hemorrhagic Fevers and Bioterrorism" (PDF).
8. ^ Ellwanger JH, Chies JA (2017). "Keeping track of hidden dangers - The short history of the Sabiá virus". Rev. Soc. Bras. Med. Trop. 50 (1): 3–8. doi:10.1590/0037-8682-0330-2016. PMID 28327796.
9. ^ "Vírus que causa febre hemorrágica foi registrada pela primeira vez em Cotia nos anos 90". Cotia e Cia | Aqui a notícia chega primeiro. Retrieved 2020-09-05.
10. ^ Gandsman, E. J.; Aaslestad, H. G.; Ouimet, T. C.; Rupp, W. D. (1997). "Sabia virus incident at Yale University". American Industrial Hygiene Association Journal. 58 (1): 51–3. doi:10.1080/15428119791013080. PMID 9018837.
11. ^ a b c "Sabia Virus".
12. ^ "Arenavírus: caso confirmado de febre hemorrágica no estado de São Paulo". Ministério da Saúde. Retrieved 2020-01-20.
13. ^ [No authors listed]. "Identificação de um caso de febre hemorrágica brasileira no estado de São Paulo, janeiro de 2020" (PDF). Boletim Epidemiológico. 51 (3): 1–8. Retrieved 2020-01-20.
## External links[edit]
Classification
D
* ICD-10: A96.8
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Taxon identifiers
Brazilian mammarenavirus
* Wikidata: Q51929772
* NCBI: 2169992
Sabiá virus
* Wikidata: Q18966455
* IRMNG: 11460711
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Brazilian hemorrhagic fever
|
c0343633
| 25,228 |
wikipedia
|
https://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever
| 2021-01-18T18:42:54 |
{"umls": ["C0343633"], "orphanet": ["319239"], "wikidata": ["Q4958833"]}
|
A number sign (#) is used with this entry because of evidence that familial avascular necrosis of the femoral head-1 (ANFH1) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.
Description
Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995).
### Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head
ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24.
Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children.
Clinical Features
Chen et al. (2004) reported 2 large Taiwanese families segregating autosomal dominant idiopathic avascular necrosis of the femoral head over 4 generations (family A) and 5 generations (family B). In family A, 16 members were affected, including 11 females and 5 males, with an average age at onset of 26 years (range, 15-48 years). All presented with symptoms of pain in the groin. Examination revealed average stature and unremarkable musculoskeletal findings, with no evidence of chondrodysplasia. Using the Ficat system, 5 patients were classified as stage II and 7 were classified as stage IV (advanced lesions). In family B, 8 females and 8 males were affected, with an age at onset ranging from 12 to 37 years.
Liu et al. (2005) restudied the 2 families with ANFH previously reported by Chen et al. (2004) as well as another 3-generation Taiwanese family with 6 affected members (family C). Radiographs at age 21 years of a female twin from family A, who presented at age 16 years with groin pain, revealed stage II disease with cystic and sclerotic changes in both femoral heads. Examination of a core decompression specimen from the right femoral head showed several dead bony fragments mixed with necrotic marrow tissue and fat cells in the marrow space. Radiographs of a 34-year-old man from family A showed stage IV disease with joint space narrowing and involvement of the acetabula.
Kannu et al. (2011) reported a 40-year-old man who was diagnosed with ANFH at age 18 years and underwent bilateral hip replacement at age 33. He had generalized osteoporosis by DEXA scan and a normal skeletal survey, other than bilateral hip degeneration. He had no facial dysmorphism, and ophthalmologic and audiologic examinations were normal. The proband's 2 sisters, who were of average stature, had normal skeletal radiographs.
Inheritance
The transmission pattern of ANFH in the families reported by Chen et al. (2004) and Liu et al. (2005) was consistent with autosomal dominant inheritance.
Mapping
In Taiwan, Chen et al. (2004) identified 2 families with ANFH showing autosomal dominant inheritance. By linkage analysis in a 4-generation family, they excluded linkage with PROC, PROS1, and PAI, which had been implicated in thrombophilia or hypofibrinolysis. Furthermore, by a genomewide scan, a significant 2-point lod score of 3.45 (theta = 0.0) was obtained between ANFH and marker D12S85 on chromosome 12. High-resolution mapping was conducted in a second family with ANFH, with replication of the linkage to D12S368. When an age-dependent penetrance model was applied, the combined multipoint lod score was 6.43 between D12S1663 and D12S85, a 15-cM region on 12q13.
Pathogenesis
It has been suggested that a common pathway of pathogenesis of ANFH involves the interruption of blood circulation to the anterior-superior-lateral part of the femoral head, leading to ischemic insult and bone collapse (Atsumi and Kuroki, 1992). The disease is aggravated by mechanical disruption, e.g., hip fracture (Bachiller et al., 2002); by external pressure on or damage to a vessel wall, e.g., vasculitis (Wang et al., 1988), radiation therapy (Massin and Duparc, 1995), and systemic lupus erythematosus (Abu-Shakra et al., 2003); arterial thrombosis or embolism, e.g., sickle cell disease (Milner et al., 1991); corticosteroid use (Fisher, 1978); and alcohol abuse (Wang et al., 2003).
Although a major proportion of individuals with ANFH have underlying risk factors and are classified as having secondary ANFH, 15 to 30% of patients showing no apparent risk factors are classified as having primary or idiopathic ANFH (Assouline-Dayan et al., 2002). Some ANFH previously considered idiopathic may actually represent a feature of hereditary thrombophilia (an increased tendency for intravascular thrombosis) or hypofibrinolysis (a reduced ability to lyse thrombi). Deficiency of activated protein C (PROC; 612283) or protein S (PROS1; 176880), resulting in thrombophilia (176860; 612336), has been reported to be associated with osteonecrosis of the hip in adults and with LCP in children. Hypofibrinolysis, mediated by high levels of plasminogen activator inhibitor (PAI; 173360), has been cited as a major cause of idiopathic osteonecrosis.
Molecular Genetics
Liu et al. (2005) identified 3 families in which there was autosomal dominant inheritance of ANFH, with mapping of the phenotype to 12q13. They carried out haplotype analysis in the families, selected candidate genes in the critical interval for ANFH on 12q13, and sequenced the promoter and exonic regions of the type II collagen gene (COL2A1; 120140) from patients with inherited and sporadic forms of ANFH. The same gly1170-to-ser (120140.0043) mutation was found in 2 separate families, with the mutant allele occurring on different haplotype backgrounds. In the third family, a gly717-to-ser (120140.0044) mutation was detected. No mutation was found in the COL2A1 coding region in sporadic cases of ANFH. The authors pointed out that in families with ANFH, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease.
In a 40-year-old man with avascular necrosis of the femoral head who was negative for mutation in the COMP (600310), COL9A1 (120210), COL9A2 (120260), COL9A3 (120270), DTDST (606718), and MATN3 (602109) genes, Kannu et al. (2011) identified a heterozygous missense mutation in the COL2A1 gene (120140.0054) that was not found in unaffected family members or in 150 age-, sex-, and ethnicity-matched controls. One of the proband's 2 unaffected sisters had a daughter diagnosed radiographically with multiple epiphyseal dysplasia at 10 years of age who was negative for mutation in COL2A1 and 6 other candidate genes. Because most COL2A1 mutations are private, Kannu et al. (2011) suggested that complete COL2A1 analysis should be considered in individuals presenting with early-onset degenerative hip disease.
INHERITANCE \- Autosomal dominant SKELETAL \- Generalized osteoporosis (in some patients) Spine \- Mild scoliosis (in some patients) Pelvis \- Degeneration of hip joint \- Narrowing of joint space Limbs \- Avascular necrosis of the femoral head \- Cystic changes of femoral head \- Sclerosis of femoral head \- Necrosis of bone and marrow tissue on histopathology MISCELLANEOUS \- Patients present with groin pain \- Onset of symptoms in second to fifth decades of life MOLECULAR BASIS \- Caused by mutation in the collagen type II alpha-1 gene (COL2A1, 120140.0043 ) ▲ 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
|
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
|
c4479260
| 25,229 |
omim
|
https://www.omim.org/entry/608805
| 2019-09-22T16:07:08 |
{"omim": ["617383", "608805"], "orphanet": ["86820"], "synonyms": ["ISCHEMIC NECROSIS OF FEMORAL HEAD", "Alternative titles", "Familial osteonecrosis of the femoral head", "FEMORAL HEAD, AVASCULAR NECROSIS OF", "OSTEONECROSIS OF FEMORAL HEAD", "FEMORAL HEAD, ASEPTIC NECROSIS OF"], "genereviews": ["NBK540447"]}
|
Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
## Epidemiology
To date, it has been reported in 6 patients in 3 families.
## Clinical description
The disease is characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. In addition, patients present at birth with congenital myopathy (see this term), characterized by non-progressive generalized muscular dysplasia. This presents as poor head control after birth, delayed ambulation and a positive Gower's sign. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta (see this term) and leads to the loss of soft dental enamel. Patients also have anhydrosis, which is characterized by inability to sweat and recurrent fever episodes associated with impaired thermoregulation.
## Etiology
The disease is caused by mutations in the ORAI1 gene (12q24.31) which codes for calcium release-activated calcium channel protein 1.
## Genetic counseling
Transmission is 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
|
Combined immunodeficiency due to ORAI1 deficiency
|
c2748568
| 25,230 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317428
| 2021-01-23T17:44:05 |
{"mesh": ["C557826"], "omim": ["612782"], "icd-10": ["D81.8"], "synonyms": ["CID due to ORAI1 deficiency"]}
|
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding neurodegeneration with brain iron accumulation (NBIA) disorders and their genetic causes and management.
The following are the goals of this overview.
### Goal 1.
Describe the clinical characteristics of neurodegeneration with brain iron accumulation.
### Goal 2.
Review the genetic causes of neurodegeneration with brain iron accumulation.
### Goal 3.
Provide an evaluation strategy to identify the genetic cause of neurodegeneration with brain iron accumulation in a proband (when possible).
### Goal 4.
Inform genetic counseling of family members of an individual with neurodegeneration with brain iron accumulation.
### Goal 5.
Review high-level management of neurodegeneration with brain iron accumulation.
## Diagnosis
## Clinical Characteristics
## Differential Diagnosis
## Management
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Neurodegeneration with Brain Iron Accumulation Disorders Overview
|
None
| 25,231 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK121988/
| 2021-01-18T21:08:48 |
{"synonyms": []}
|
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-12 (MRX12) is caused by mutation in the THOC2 gene (300395) on Xq25.
Clinical Features
Kumar et al. (2015) reported 4 unrelated families with X-linked mental retardation. Two of the families had previously been reported by Kerr et al. (1992) as 'MRX12' and by Gu et al. (1996) as 'MRX35.' All 20 males in the study of Kumar et al. (2015) had intellectual disability that ranged from borderline to severe. Common additional features included speech delay, short stature, elevated body mass index (BMI), and a truncal obesity pattern in older males. There were variable neurologic features, including hypotonia, tremor, gait disturbances, and behavioral problems. Five patients had seizure disorders. Neuroradiologic findings performed in only a few patients showed mild ventriculomegaly, gliosis, inferior cerebellar vermis dysplasia, and cervical cord compression. Less common clinical features included microcephaly and microorchidism and/or microphallus. Although some patients had dysmorphic facial features, there was no common pattern. One carrier female had borderline-mild intellectual disability.
Inheritance
The transmission pattern of mental retardation in the families reported by Kumar et al. (2015) was consistent with X-linked recessive inheritance.
Molecular Genetics
In affected members of 4 unrelated families with X-linked mental retardation, Kumar et al. (2015) identified 4 different hemizygous missense mutations in the THOC2 gene (300395.0001-300395.0004). The mutations, which were found by X-chromosome exome sequencing, segregated with the disorder in the respective families. Studies of patient-derived cells showed that 2 of the variants resulted in decreased stability of THOC2 and its TREX-complex partners; however, no changes were observed in cells derived from the other 2 variants. Kumar et al. (2015) concluded that all the variants resulted in a partial loss of function and alterations in mRNA export, which likely impaired protein synthesis. The findings suggested that THOC2 and nuclear mRNA-export are crucial factors for proper neuronal development.
INHERITANCE \- X-linked recessive GROWTH Height \- Short stature (in some patients) Weight \- Truncal obesity (in some patients) \- Increased body mass index (BMI) (in some patients) HEAD & NECK Head \- Microcephaly (in some patients) GENITOURINARY External Genitalia (Male) \- Microphallus (in some patients) \- Microorchidism (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Intellectual disability, mild to severe \- Mental retardation, variable \- Tremor (in some patients) \- Gait disturbances (in some patients) \- Seizures (in some patients) Ventriculomegaly, mild (in some patients) \- Gliosis (in soma patients) \- Cerebellar hypoplasia (in some patients) Behavioral Psychiatric Manifestations \- Behavioral abnormalities (in some patients) MISCELLANEOUS \- Four unrelated families have been reported (last curated August 2015) MOLECULAR BASIS \- Caused by mutation in the THO complex, subunit 2 gene (THOC2, 300395.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MENTAL RETARDATION, X-LINKED 12
|
c0796242
| 25,232 |
omim
|
https://www.omim.org/entry/300957
| 2019-09-22T16:19:05 |
{"omim": ["300957"], "orphanet": ["457240"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 35"]}
|
A number sign (#) is used with this entry because hypertrophic cardiomyopathy-1 (CMH1) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q12.
Description
Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse.
### Genetic Heterogeneity of Hypertrophic Cardiomyopathy
Additional forms of hypertrophic cardiomyopathy include CMH2 (115195), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; CMH3 (115196), caused by mutation in the TPM1 gene (191010) on chromosome 15q22; CMH4 (115197), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11; CMH6 (600858), caused by mutation in the PRKAG2 gene (602743) on chromosome 7q36; CMH7 (613690), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13; CMH8 (608751), caused by mutation in the MYL3 gene (160790) on chromosome 3p21; CMH9 (613765), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMH10 (608758), caused by mutation in the MYL2 gene (160781) on chromosome 12q24; CMH11 (612098), caused by mutation in the ACTC1 gene (102540) on chromosome 15q14; CMH12 (612124), caused by mutation in the CSRP3 gene (600824) on chromosome 11p15; CMH13 (613243), caused by mutation in the TNNC1 gene (191040) on chromosome 3p21; CMH14 (613251), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMH15 (613255), caused by mutation in the VCL gene (193065) on chromosome 10q22; CMH16 (613838), caused by mutation in the MYOZ2 gene (605602) on chromosome 4q26; CMH17 (613873), caused by mutation in the JPH2 gene (605267) on chromosome 20q12; CMH18 (613874), caused by mutation in the PLN gene (172405) on chromosome 6q22; CMH20 (613876), caused by mutation in the NEXN gene (613121) on chromosome 1p31; CMH21 (614676), mapped to chromosome 7p12.1-q21; CMH22 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; CMH23 (see 612158), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMH24 (see 601493), caused by mutation in the LDB3 gene (605906) on chromosome 10q23; CMH25 (607487), caused by mutation in the TCAP gene (604488) on chromosome 17q12; CMH26 (617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and CMH27 (618052), caused by mutation in the ALPK3 gene (617608) on chromosome 15q25.
The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.
Mutations in the CALR3 gene (611414), previously suggested to cause a form of CMH (Chiu et al., 2007) designated CMH19, were convincingly shown not to be a mongenic cause of cardiomyopathy by Verhagen et al. (2018); see 611414.0001.
Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see 606566.0001), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see 601253.0013), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; 590035) and mitochondrial tRNA-isoleucine (MTTI; 590045).
Clinical Features
In the first demonstration of asymmetric hypertrophy of the heart in young adults, Teare (1958) reported the autopsy findings in 9 cases of sudden death in young subjects distributed in 6 families. This condition has been called muscular subaortic stenosis but more generalized ventricular hypertrophy is often an earlier and more impressive feature, and obstruction to outflow from the right ventricle can also occur. Study of the families of probands with the full-blown condition shows that an atrial heart sound ('presystolic gallop') and EKG changes of ventricular hypertrophy are the earliest signs. Sudden death occurs in some cases. Braunwald et al. (1964) reported in detail on 64 patients; multiple cases were observed in 11 families, which contained in all at least 41 definite or probable cases. As pointed out by Nasser et al. (1967), outflow obstruction may be absent in some affected members of families in which others do have outflow obstruction. Maron et al. (1974) studied 4 infants that died with ASH in the first 5 months of life, including 1 stillborn. ASH was demonstrated in one first-degree relative of each infant. Maron et al. (1976) analyzed the clinical picture of 46 children with ASH. On the basis of a study of an outpatient population, Spirito et al. (1989) suggested that the prognosis in hypertrophic cardiomyopathy may be less grave than has usually been considered on the basis of hospital-study patients.
On morphologic grounds, 4 types of hypertrophic cardiomyopathy have been described: type 1 with hypertrophy confined to the anterior segment of the ventricular septum; type 2 with hypertrophy of both the anterior and the posterior segments of the ventricular septum; type 3 with involvement of both the ventricular septum and the free wall of the left ventricle and type 4 with involvement of the posterior segment of the septum, the anterolateral free wall, or the apical half of the septum (Maron et al., 1982; Ciro et al., 1983). Apical hypertrophic cardiomyopathy is, therefore, one form of type IV. It was first described by Yamaguchi et al. (1979) in Japan (where it appears to be more frequent than elsewhere) and later by Maron et al. (1982). The cases of apical hypertrophic cardiomyopathy described by Maron et al. (1982) belonged to families with different forms of hypertrophic cardiomyopathy. Malouf et al. (1985) reported apical hypertrophic cardiomyopathy in father and daughter of a Lebanese Christian family. The parents were not related; an only sib was normal on examination and echocardiogram as were 2 sisters of the father and their 6 children.
In a metaanalysis of sudden death from cardiac causes in children and young adults, Liberthson (1996) found that hypertrophic cardiomyopathy was the most frequent cause of sudden death in young persons in association with strenuous physical exertion or sports.
Other Features
Maron et al. (1996) collected information on 158 sudden deaths that had occurred in trained athletes throughout the United States from 1985 through 1995. In 24 athletes (15%), noncardiovascular causes were found. Among the 134 athletes who had cardiovascular causes of sudden death, the median age was 17 years. The most common competitive sports involved were basketball (47 cases) and football (45 cases), together accounting for 68% of sudden deaths. The most common structural cardiovascular diseases identified at autopsy as the primary cause of death were hypertrophic cardiomyopathy (48 athletes, 36%), which was disproportionately prevalent in black athletes compared with white athletes (48% vs 26% of deaths; P = 0.01), and malformations involving anomalous coronary artery origin (17 athletes, 13%). Of 115 athletes who had a standard preparticipation medical evaluation, only 4 (3%) were suspected of having cardiovascular disease, and the cardiovascular anomaly responsible for sudden death was correctly identified in only 1 athlete (0.9%).
In a series of 387 young athletes who died suddenly, Maron (2003) found that hypertrophic cardiomyopathy was the cause in 102 (26.4%). Coronary artery anomalies had accounted for 53 (13.7%) and ruptured aortic aneurysm of Marfan syndrome for 12 (3.1%). Arrhythmogenic right ventricular cardiomyopathy was found in 11 (2.8%) and long QT syndrome in 3 (0.8%).
Cannon (2003) tabulated the features of hypertrophic cardiomyopathy that increase the risk of cardiovascular events. These included family history of sudden death, recurrent syncope, ventricular tachycardia on monitoring, extreme left ventricular hypertrophy (more than 3 cm), left ventricular outflow pressure gradient of more than 30 mm Hg, and fall in blood pressure during exercise.
Inheritance
In the family reported by Horlick et al. (1966), 10 persons in 4 generations were thought to have been affected. Pare et al. (1961) described this disorder in 30 out of 87 members of a French Canadian kindred. The genealogic survey was carried back to the original emigrant from France in the 1600s. The pattern of occurrence over 5 generations and 160 years since the death of the man believed to be the first instance of the heart disease indicated autosomal dominant inheritance. Elevated paternal age of sporadic (possible fresh mutation) cases was observed by Jorgensen (1968). The family study of Clark et al. (1973), using echocardiography, indicated that 28 of 30 probands (93%) had an affected parent. This agrees well with estimates of the extent to which this disorder, on the average, reduces reproductive fitness.
Greaves et al. (1987) performed echocardiographic studies of 193 first-degree relatives of 50 patients with hypertrophic cardiomyopathy. More males than females were affected. In 28 of 50 families, familial occurrence was observed. In 15 families the pattern of inheritance was consistent with autosomal dominant inheritance; in the other 13 the affected members were in a single generation and the pattern of inheritance could not be determined.
The family reported by Yamaguchi et al. (1979) suggested X-linked recessive inheritance. Burn (1985) felt that the existence of a recessive form of hypertrophic cardiomyopathy (Emanuel et al., 1971; Branzi et al., 1985) could neither be established nor disproved at the time of his writing. Branzi et al. (1985) claimed the existence of an autosomal recessive form because of a family they found with 2 affected sisters and both parents normal by careful study. Formal segregation analysis supported the existence of 2 classes: one with a segregation ratio close to 50% and one with a value close to 25%.
Mapping
Darsee et al. (1979) found a lod score of 7.7 for linkage between ASH and HLA. They concluded that, in addition to the hereditary form linked to HLA, a sporadic unlinked form is associated with severe systemic hypertension. White patients with ASH were B12; black patients were B5. This presumably strong evidence placing a gene for hypertrophic subaortic stenosis on 6p by linkage to HLA was invalidated when the infamous John R. Darsee confessed fabrication of the data. Nutter also published a retraction. Motulsky (1979) wrote a laudatory editorial to accompany the original article.
In his retraction letter, Darsee stated: 'The lod scores were calculated, in part, by one of the journal referees who felt they should be included, and partly by my own calculations. The biometrist I consulted at Emory regarding these calculations was not familiar with lod scores and unable to provide assistance.' Before Darsee confessed, Darsee and Heymsfield (1981) wrote: 'It is the pinhole through which we are forced to view this disease or these diseases that has helped confer a degree of homogeneity. The pinhole is the limited collection of tools we have to study hypertrophic cardiomyopathy--the angiogram, the echocardiogram, and the autopsy table. It is a common practice of even the most perspicacious and critical investigators to conclude that diseases that look the same on canvas were painted with the same brush.' Although these words are true in general terms and are a fine statement of the principle of genetic heterogeneity, the falsified data do not support them, of course.
Jarcho et al. (1989) did studies with DNA markers in the Canadian family originally reported by Pare et al. (1961). At the time of the study, hypertrophic cardiomyopathy had occurred in 20 surviving and 24 deceased family members. With a polymorphic DNA probe with the trivial name CRI-L436, which identified a DNA segment designated D14S26, they found no recombination (lod score = 9.37 at theta = 0). This probe had been assigned to chromosome 14 on the basis of somatic cell hybrid analysis (Donis-Keller et al., 1987). The gene encoding the alpha chain of the T-cell receptor (see 186880) was located approximately 20 cM from D14S26 (Mitchell et al., 1989). Solomon et al. (1990) mapped the probe CRI-L436 to 14q11-q12 by in situ hybridization. Because the cardiac myosin heavy chain genes (MYH6, 160710; MYH7) map to the same chromosomal band, they determined the genetic distance between the gene for the beta heavy chain of cardiac myosin, D14S26, and the CMH1 locus. They presented data indicating that these 3 loci are linked within 5 cM of each other. The data were consistent with the possibility that the CMH1 mutation is in either the alpha or the beta gene.
Hejtmancik et al. (1991) found that the gene for familial hypertrophic cardiomyopathy was located at 14q1 in 8 unrelated families of varied ethnic origins. Of 5 families with hypertrophic cardiomyopathy, Epstein et al. (1992) found linkage to chromosome 14 markers in one and suggestive linkage in a second. However, linkage to chromosome 14 markers was excluded in the other 3 kindreds. Ko et al. (1992) excluded linkage to D14S26 in a Chinese family, likewise indicating genetic heterogeneity.
Molecular Genetics
In affected members of the large French Canadian kindred originally reported by Pare et al. (1961) and shown to have linkage to markers on the proximal portion of 14q, Geisterfer-Lowrance et al. (1990) identified heterozygosity for a missense mutation in the MYH7 gene (R403Q; 160760.0001). Ross and Knowlton (1992) reviewed this discovery beginning with the patients first seen by Pare in the 1950s.
Using a ribonuclease protection assay, Watkins et al. (1992) screened the beta cardiac myosin heavy-chain genes of probands from 25 unrelated families with familial hypertrophic cardiomyopathy and identified 7 different missense mutations in 12 of the 25 families (see, e.g., 160760.0003-160760.0007).
Atiga et al. (2000) studied 36 patients with CMH1 using beat-to-beat QT variability analysis. This technique quantifies the beat-to-beat fluctuations in ventricular repolarization reflected in the QT interval. Seven mutations were found in this group: 9 patients had the 'severe' arg403-to-gln mutation (160760.0001) and 8 had the more benign leu908-to-val mutation (160760.0010). Atiga et al. (2000) found higher QT variability indices in patients with CMH1 compared with controls, and the greatest abnormality was observed in patients with the arg403-to-gln mutation. CMH1 patients therefore exhibited labile ventricular repolarization and were considered to be at higher risk of sudden death from ventricular arrhythmias, particularly those with a 'severe' mutation.
Blair et al. (2001) studied a family with familial hypertrophic cardiomyopathy in which 2 individuals suffered early sudden death and a third individual died suddenly at the age of 60 years with autopsy evidence of familial hypertrophic cardiomyopathy. A val606-to-met (V606M) mutation was observed in the MYH7 gene (160760.0005). This mutation had previously been proposed to give rise to a benign phenotype (see Abchee and Marian, 1997). A second ala728-to-val (A728V) mutation (160760.0025) was found in cis with the V606M mutation. Blair et al. (2001) suggested that this second mutation in cis explained the more severe phenotype seen in this family.
Arad et al. (2005) identified 2 different MYH7 missense mutations in 2 probands with apical hypertrophy from families in which the mutations also caused other CMH morphologies (see 160760.0038 and 160760.0039, respectively). Another MYH7 mutation (R243H; 160760.0040) was identified in a sporadic patient with apical hypertrophy; the same R243H mutation was later found by Klaassen et al. (2008) in a family segregating isolated left ventricular noncompaction (LVNC5; see 613426).
In a Japanese proband with CMH (CMH17; 613873), Matsushita et al. (2007) identified heterozygosity for a missense mutation in the JPH2 gene (605267.0004); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 mutations in MYH7 (see, e.g., 160760.0016). The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband.
In a 32-year-old African American woman with severe hypertrophic cardiomyopathy (see CMH7, 613690) and a family history of CMH and sudden cardiac death, Frazier et al. (2008) identified a heterozygous mutation in the TNNI3 gene (P82S; 191044.0003) and a heterozygous mutation in the MYH7 gene (R453S; 160760.0043). Frazier et al. (2008) suggested that the P82S variant, which they found in 3% of healthy African Americans, is a disease-modifying mutation in severely affected individuals, and that carriers of the variant might be at increased risk of late-onset cardiac hypertrophy.
### Skeletal Muscle Involvement
Fananapazir et al. (1993) demonstrated by biopsy of the soleus muscle the presence of central core disease of skeletal muscle (117000) in association with hypertrophic cardiomyopathy due to any of 4 different mutations in the MYH7 gene. Soleus muscle samples from patients in 4 kindreds in which hypertrophic cardiomyopathy was not linked to the MYH7 locus showed no myopathy or central core disease. In 1 family with the leu908-to-val mutation of the MYH7 gene (160760.0010), central core disease was demonstrated on soleus muscle biopsy, although cardiac hypertrophy was absent on echocardiogram in 2 adults and 3 children. Almost all patients had no significant muscle weakness, despite the histologic changes. The histologic hallmark of CCD was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. McKenna (1993), who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings.
In a mother with myosin storage myopathy, who later developed CMH, and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; see 613426), Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7 (160760.0037). The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, CMH was diagnosed; echocardiography revealed no atrial or ventricular dilatation, and no abnormal appearance of the ventricular walls. Skeletal muscle biopsy at 53 years of age showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking.
Genotype/Phenotype Correlations
In a cohort of 239 patients with hypertrophic cardiomyopathy who were negative for mutation in the 8 most common CMH-associated myofilament genes, Theis et al. (2006) analyzed 5 candidate Z-disc genes and identified 14 mutations in 13 patients. The authors observed that 11 (85%) of the 13 patients with Z-disc-associated CMH had a sigmoidal septal contour, in contrast to the reverse septal curvature seen with myofilament-associated CMH.
Heterogeneity
In affected members of an Italian family, Ferraro et al. (1990) found that 7 affected members and none of 3 unaffected members showed a fragile site on 16q (FRA16B).
Hengstenberg et al. (1993, 1994) studied a family with familial hypertrophic cardiomyopathy in which preliminary haplotype analyses excluded linkage to chromosomes 14q1, 1q3, 11p13-q13, and 15q2, suggesting the existence of another locus, designated CMH5, for this disorder. Further studies in this family by Richard et al. (1999) demonstrated that of 8 affected family members, 4 had a mutation in the MYH7 gene (160760.0033), 2 had a mutation in the MYBPC3 gene (600958.0014), and 2 were doubly heterozygous for the 2 mutations. The doubly heterozygous patients exhibited marked left ventricular hypertrophy, which was significantly greater than that in the other affected individuals.
Seidman and Seidman (2001) reviewed the genetic and clinical heterogeneity of hypertrophic cardiomyopathy.
Arad et al. (2002) reviewed the clinical spectrum of hypertrophic cardiomyopathy in the context of genetic heterogeneity, as well as animal models of hypertrophic cardiomyopathy.
In 108 consecutive patients with hypertrophic cardiomyopathy diagnosed by echocardiography, angiography, or findings after myectomy, Erdmann et al. (2003) screened for mutations in 6 sarcomeric genes. They identified 34 different mutations: 18 in the MYBPC3 gene in 20 patients, with 2 mutations identified twice; 13 missense mutations in the MYH7 gene in 14 patients, with 1 mutation identified twice; and 1 amino acid change each in the TPM1, TNNT2, and TNNI3 genes. No disease-causing mutation was identified in TNNC1 (191040). In only 8 of the 37 mutation carriers was the mutation sporadic. Thus, systematic mutation screening in a large sample of patients with hypertrophic cardiomyopathy led to a genetic diagnosis in approximately 30% of unrelated index patients and in approximately 57% of patients with a positive family history.
In 197 unrelated probands with familial or sporadic hypertrophic cardiomyopathy, Richard et al. (2003) screened for mutations in 9 genes and identified mutations in 124 (63%) of 197 probands. The MYBPC3 and MYH7 genes accounted for 82% of families with identified mutations (42% and 40%, respectively). A mutation was identified in 15 (60%) of 25 sporadic patients.
In 80 unrelated Australian probands with CMH, Chiu et al. (2007) screened 7 CMH genes, including MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, MYL2, and MYL3. Twenty-four different mutations were identified in 23 (29%) of 80 families, with 19 probands having a single mutation (11 in MYH7, 4 in MYPBC3, 3 in TNNI3, and 1 in TNNT2). Multiple gene mutations were identified in 4 probands: 1 was doubly heterozygous, with 1 mutation in MYH7 and 1 in MYBPC3, whereas the other 3 were compound heterozygous for mutations in MYBPC3 (see, e.g., 600958.0021 and 600958.0022). Six (43%) of 14 affected individuals from multiple mutation families experienced sudden cardiac death, compared with 10 (18%) of 55 affected members from single mutation families (p = 0.05). Septal wall thickness was increased in patients with multiple mutations (mean thickness, 30.7 mm vs 24.4 mm; p less than 0.05). Ingles et al. (2005) concluded that multiple gene mutations occurring in CMH families may result in a more severe clinical phenotype because of a 'double-dose' effect, and emphasized the importance of screening the entire panel of CMH genes even after a single mutation has been identified.
Van Driest et al. (2004) analyzed the MYBPC3 gene in a cohort of 389 CMH probands who had previously been genotyped for mutation in genes encoding the sarcomeric proteins comprising the thick filament (MYH7 and the regulatory and essential light chains, MYL2 and MYL3) and the thin filament (TNNT2, TNNI3, TPM1, and ACTC). Overall, 63 (16.2%) of the patients had a single mutation in the MYBPC3 gene, 54 (13.8%) in MYH7, 7 (1.8%) in MYL2, 6 (1.5%) in TNNT2, 4 (1.0%) in TNNI3, 2 (0.5%) in TPM1, and 1 (0.3%) in ACTC. The 10 patients with multiple mutations (2.6%) had the most severe disease presentation: they were significantly younger at diagnosis than any other subgroup, had the most hypertrophy, and had the highest incidence of myectomy and placement of implantable cardioverter-defibrillators.
From 2000 to 2012, Das et al. (2014) studied a total of 136 unrelated hypertrophic cardiomyopathy probands, of which 63 (46%) carried at least 1 pathogenic mutation. MYBPC3 (600958) accounted for 34 patients, or 47%, and MYH7 (160760) accounted for 23 patients, or 32%. Together, these gene variants accounted for 79%. In this study, 5 variants in 6 probands (10%) were reclassified: 2 variants of uncertain significance were upgraded to pathogenic, 1 variant of uncertain significance and 1 pathogenic variant were downgraded to benign, and 1 pathogenic variant (found in 2 families) was downgraded to a variant of uncertain significance. Das et al. (2014) concluded that given the rapid growth of genetic information available, periodic reassessment of single-nucleotide variant data is essential in hypertrophic cardiomyopathy.
Diagnosis
To screen for mutations that cause familial hypertrophic cardiomyopathy, Rosenzweig et al. (1991) capitalized on the fact that 'ectopic' or 'illegitimate' transcription of beta cardiac myosin heavy chain gene can be detected in blood lymphocytes. Preclinical or prenatal screening will make it possible to study the disorder longitudinally and to develop preventive interventions. The findings again illustrate the important application of PCR. Clarke and Harper (1992) suggested that 'the parallels between this cardiomyopathy and Huntington's disease are sufficiently striking that we would be very cautious about testing for it in childhood. The emotional consequences of being brought up under a cloud of doom may be damaging, and the lack of any uncertainty in identifying gene carriers by mutation analysis might paradoxically make this worse.' Watkins et al. (1992) countered this view, saying that children with the condition face a 4 to 6% risk of sudden death each year. Genetic diagnosis will allow evaluation of prophylactic use of antiarrhythmic agents or implantable defibrillator devices. It will also provide parents and physicians an appropriate basis on which to make decisions regarding the participation of children in competitive sports. They suggested that in their experience '...any perception of a cloud of doom comes as much from a lack of knowledge of and research into this inherited cardiomyopathy as from anything else.'
To provide a method of genetic diagnosis of cardiomyopathy, Mogensen et al. (2001) developed a method of linkage analysis using multiplex PCR of markers covering 9 loci associated with familial hypertrophic cardiomyopathy. They evaluated this method in 3 families. In all 3 families the locus showing the highest lod score was subsequently found by mutation analysis to be the locus at which the disease-causing gene was found. Mogensen et al. (2001) emphasized the importance of stringent phenotypic definitions in the diagnostic process.
Ingles et al. (2013) studied the clinical predictors of genetic testing outcomes for hypertrophic cardiomyopathy. The authors studied 265 unrelated individuals with hypertrophic cardiomyopathy over a 10-year period in specialized cardiac genetic clinics across Australia. Of the 265 individuals studied, 138 (52%) had at least 1 mutation identified. The mutation detection rate was significantly higher in probands with hypertrophic cardiomyopathy with an established family history of disease (72% vs 29%, p less than 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89% vs 59%, p less than 0.0001). Multivariate analysis identified female gender, increased left ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31% vs 7%, p = 0.012). Ingles et al. (2013) concluded that family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting.
Pathogenesis
Wagner et al. (1989) investigated a possible role of adrenergic innervation or of cellular calcium regulation in pathogenesis, as suggested by the presence of hyperdynamic left ventricular function and by the clinical and symptomatic improvement seen in patients treated with beta-receptor antagonists or calcium antagonists. They found that calcium-antagonist binding sites, measured as the amount of dihydropyridine bound to atrial tissue, were increased by 33% in patients with hypertrophic cardiomyopathy. The densities of saxitoxin-binding sites on voltage-sensitive sodium channels and beta-adrenoceptors did not differ from controls. Wagner et al. (1989) interpreted the findings as suggesting that abnormal calcium fluxes through voltage-sensitive calcium channels may play a pathophysiologic role in the disease.
There is evidence that 'myocardial bridging' with compression of an epicardial coronary artery, such as the left anterior descending coronary artery, can cause myocardial ischemia and sudden death. Yetman et al. (1998) performed angiographic studies of 36 children with hypertrophic cardiomyopathy to determine whether myocardial bridging was present and, if so, to assess the characteristics of systolic narrowing of the left anterior descending coronary artery caused by myocardial bridging and the duration of residual diastolic compression. Myocardial bridging was present in 10 (28%) of the patients. As compared with patients without bridging, patients with bridging had a greater incidence of chest pain, cardiac arrest with subsequent resuscitation, and ventricular tachycardia. On average, the patients with bridging had a reduction in systolic blood pressure with exercise, as compared with an elevation in those without bridging. Patients with bridging also had greater ST segment depression with exercise and a shorter duration of exercise. Kaplan-Meier estimates of the proportions of patients who had not died or had cardiac arrest with subsequent resuscitation 5 years after the diagnosis of hypertrophic cardiomyopathy were 67% among patients with bridging and 94% among those without bridging. No statement concerning the family history or other information relevant to an etiology in these patients was provided.
Using pharmacologic models of cardiac hypertrophy in mice, Friddle et al. (2000) performed expression profiling with fragments of more than 4,000 genes to characterize and contrast expression changes during induction and regression of hypertrophy. Administration of angiotensin II and isoproterenol by osmotic minipump produced increases in cardiac weight (15% and 45%, respectively) that returned to preinduction size after drug withdrawal. From multiple expression analyses of left ventricular RNA isolated at daily time points during cardiac hypertrophy and regression, Friddle et al. (2000) identified sets of genes whose expression was altered at specific stages of this process. While confirming the participation of 25 genes or pathways previously shown to be altered by hypertrophy, a larger set of 30 genes was identified whose expression had not previously been associated with cardiac hypertrophy or regression. Of the 55 genes that showed reproducible changes during the time course of induction and regression, 32 were altered only during induction, and 8 were altered only during regression. Thus, cardiac remodeling during regression uses a set of genes that are distinct from those used during induction of hypertrophy.
Tsybouleva et al. (2004) observed that myocardial aldosterone and aldosterone synthase (CYP11B2; 124080) mRNA levels were elevated by 4- to 6-fold in patients with hypertrophic cardiomyopathy compared to controls. In studies in rat cardiomyocytes, they found that aldosterone increased expression of several hypertrophic markers via protein kinase D (PRKCM; 605435) and increased collagens and TGFB1 (190180) via PI3K-delta (PIK3CD; 602839). Inhibition of PRKCM and PIK3CD abrogated the hypertrophic and profibrotic effects, respectively, as did the mineralocorticoid receptor antagonist spironolactone. In a mouse model of hypertrophic cardiomyopathy, spironolactone reversed interstitial fibrosis, decreased myocyte disarray, and improved diastolic function. Tsybouleva et al. (2004) concluded that aldosterone is a major link between sarcomeric mutations and cardiac phenotype in CMH.
Clinical Management
Wilson et al. (1983) observed marked improvement in the manifestations of familial hypertrophic cardiomyopathy when affected persons with hyperthyroidism were treated for the latter condition. This prompted them to suggest that antithyroid therapy 'should be considered in this form of cardiomyopathy.'
In discussing the management of hypertrophic cardiomyopathy, Spirito et al. (1997) reviewed heterogeneity of clinical and genetic features and stated that 'the diverse clinical and genetic features of hypertrophic cardiomyopathy make it impossible to define precise guidelines for management.' The treatment of symptoms to improve quality of life and the identification of patients who are at high risk for sudden death and require aggressive therapy are 2 distinct issues that must be addressed by largely independent strategies. The stratification of risk and the prevention of sudden death were discussed.
Ventricular tachycardia or fibrillation is thought to be the principal mechanism of sudden death in patients with hypertrophic cardiomyopathy. Maron et al. (2000) conducted a retrospective study, the results of which indicated that in high-risk patients with hypertrophic cardiomyopathy, implantable defibrillators are highly effective in terminating such arrhythmias, indicating that these devices have a role in the prevention of sudden death. In comments on the study of Maron et al. (2000), Watkins (2000) stated that for most patients with hypertrophic cardiomyopathy, the risk is not high enough to offset the adverse effects of an implantable defibrillator. He suggested the creation of an international registry to document discharge rates after implantation for each of the indicators of risk. Ideally, the data should include molecular genetic information, since the underlying mutation will itself be predictive. He cited the cohort studies of McKenna et al. (1985) in which patients with hypertrophic cardiomyopathy who were treated with low-dose amiodarone compared with untreated historical controls suggested that long-term treatment was partially protective; and the work of Ostman-Smith et al. (1999), indicating that high doses of beta-blockers may also confer protection. Since there has been an excess rate of sudden death during or shortly after exercise, most physicians recommend that patients with hypertrophic cardiomyopathy avoid competitive sports or intensive exertion.
In a study of 480 consecutive patients with hypertrophic cardiomyopathy, Spirito et al. (2000) found that the magnitude of hypertrophy is directly related to the risk of sudden death and then is a strong and independent predictor of prognosis. Young patients with extreme hypertrophy, even those with few or no symptoms, appeared to be at substantial long-term risk and thus were considered for interventions to prevent sudden death. Most patients with mild hypertrophy were at low risk and were reassured regarding their prognosis.
Ho et al. (2002) studied confirmed MYH7 mutation heterozygotes using echocardiography, including Doppler tissue imaging. Left ventricular ejection fraction was significantly higher in mutation carriers than in normal controls. Mean early diastolic myocardial velocities were significantly lower in mutation carriers, irrespective of whether hypertrophy was already present. Overall the authors concluded that abnormalities of diastolic function were detectable before the onset of myocardial hypertrophy in mutation carriers, providing a mechanism for predicting affected individuals.
Population Genetics
In a discussion of hypertrophic cardiomyopathy, Maron et al. (1987) stated that approximately 45% of cases are sporadic. New mutations cannot be the explanation for all of the sporadic cases; hence, there may be other etiologically distinct disorders represented in the group of hypertrophic cardiomyopathies. Systematic echocardiographic surveys of families of patients with hypertrophic cardiomyopathy have identified relatives older than 50 years of age with mild and localized left ventricular hypertrophy. Thus, the true proportion of sporadic cases may not be as high as 45%.
INHERITANCE \- Autosomal dominant \- Digenic (see MISCELLANEOUS) CARDIOVASCULAR Heart \- Asymmetric septal hypertrophy \- Apical hypertrophy (in some patients) \- Subaortic stenosis \- Hypertrophic cardiomyopathy \- Presystolic gallop \- Palpitation \- Arrhythmia \- Congestive heart failure \- Sudden death MISCELLANEOUS \- Digenic form caused by heterozygous mutations in the MYLK2 ( 606566.0001 and 606566.0002 ) and MYH7 ( 160760.0007 ) genes MOLECULAR BASIS \- Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0001 ) ▲ Close
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
|
c0205700
| 25,233 |
omim
|
https://www.omim.org/entry/192600
| 2019-09-22T16:32:02 |
{"omim": ["192600"], "synonyms": ["Alternative titles", "CMH", "VENTRICULAR HYPERTROPHY, HEREDITARY", "ASYMMETRIC SEPTAL HYPERTROPHY", "HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC"], "genereviews": ["NBK1385"]}
|
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is caused by homozygous mutation in the PLAA gene (603873) on chromosome 9p21.
Description
NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).
Clinical Features
Falik Zaccai et al. (2017) reported a large consanguineous Israeli family in which 6 individuals had a severe neurodevelopmental disorder characterized by infantile onset of progressive microcephaly, spastic quadriparesis, and global developmental delay. A similarly affected patient from an unrelated consanguineous family from the same geographic region was also identified. The patients presented between 2 and 4 months of age with rapidly progressive spasticity and extrapyramidal signs, including dystonic posturing, rigidity, and hypomimia. All had severe mental and language delay and impaired motor function. Six patients had an abnormally exaggerated startle response, and 3 developed seizures. Most patients showed failure to thrive. Other features included progressive chest deformities with pectus carinatum, kyphosis, contractures of the large joints and hyperextensibility of the small joints, rocker-bottom feet, hypertrichosis, and hyperhidrosis of the palms and feet. Brain imaging showed progressive leukoencephalopathy, white matter atrophy, delayed myelination, thin corpus callosum, and enlarged ventricles or cortical atrophy.
Hall et al. (2017) reported 10 patients from 4 consanguineous families of Pakistani or Saudi Arabian origin with a severe neurodevelopmental disorder resulting in death from central apnea or pneumonia between 12 days and 6 years in all patients. The patients presented at birth with truncal hypotonia, little spontaneous movement, increased limb tone, feeding difficulties, hirsutism, and mild dysmorphic features. They had bulbar symptoms manifest as poor sucking and respiratory insufficiency. Eight patients developed seizures between ages 1 week and 2 years, and EEG often showed hypsarrhythmia. The patients exhibited progressive microcephaly and spasticity, and had essentially no developmental progress, with lack of gross and fine motor skills, absent language, and profound mental retardation. Dysmorphic features included short nose, long or flat philtrum, cupid bow lip, high-arched palate, low-set and posteriorly rotated ears, micrognathia, single palmar crease, and postaxial polydactyly. Brain imaging showed delayed myelination, thin corpus callosum, simple immature gyral pattern, and progressive cerebral and cerebellar atrophy. More variable features included optic atrophy (in 3 of 5 patients old enough to be examined), nystagmus (4 patients), dorsal edema of the hands and/or feet (4 patients), and roving eye movements.
Inheritance
The transmission pattern of NDMSBA in the families reported by Falik Zaccai et al. (2017) and Hall et al. (2017) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 7 patients from 2 unrelated consanguineous Israeli families with NDMSBA, Falik Zaccai et al. (2017) identified a homozygous missense mutation in the PLAA gene (L752F; 603873.0001). The mutation, which was found by homozygosity mapping and candidate gene sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. It was found in heterozygous state in 3 of 92 residents from the local village (prevalence of 3.3%); haplotype analysis indicated a common ancestral haplotype in the 2 families. Functional studies showed that patient cells had decreased levels of prostaglandin-E2 (PGE2) compared to controls, in both the unstimulated and stimulated state, suggesting that the mutation abrogated normal phospholipase-A2 (PLA2) activation and the ability of PLAA to induce prostaglandin biogenesis; this defect could be rescued with wildtype PLAA. Although patient cells also showed abrogation of LPS-induced expression of certain cytokines, the NFKB and Wnt signaling pathways did not appear to be affected. Patient cells did not show ubiquitin depletion or accumulation of misfolded proteins compared to control cells. The findings implicated a role for the PLAA/PLA2/PGE2 axis in proper brain development.
In 7 infants from 3 consanguineous Pakistani families with a lethal form of NDMSBA, Hall et al. (2017) identified a homozygous missense mutation in the PLAA gene (G23V; 603873.0002). The mutation was found by homozygosity mapping, candidate gene sequencing, and exome sequencing; it was confirmed by Sanger sequencing and segregated with the disorder in all of the families. Haplotype analysis indicated a common founder rather than a recurrent mutation. Expression of this mutation into mice (see ANIMAL MODEL) showed that it caused a 70% reduction in protein levels, confirming that it destabilizes protein structure. Studies of cells derived from the mutant mice showed disruption of ubiquitin-mediated trafficking of membrane proteins through the endolysosomal pathway, which resulted in impaired synaptic vesicle recycling and function at both central and peripheral synapses. However, PLA2 activity was normal in mutant mouse brain, suggesting that impaired phospholipid signaling was not the primary cause of neurodysfunction in these patients.
Animal Model
Falik Zaccai et al. (2017) found that Plaa-null mice exhibited perinatal lethality. Mutant embryos were smaller than wildtype and had abnormal or underdeveloped spleens, underdeveloped and immature lungs, and less mature and differentiated cortical neurons compared to wildtype. These changes were associated with decreased levels of PGE2 in certain tissues.
Hall et al. (2017) found that homozygous loss of Plaa was embryonic lethal in mice. There were no changes in ubiquitin expression or proteasomal activity in the absence of Plaa. However, Plaa-null cells showed disrupted trafficking of recycled membrane proteins from early to late endosomes. The findings suggested that loss of mammalian Plaa disrupted ESCRT (Endosomal Sorting Complexes Required for Transport) localization and ubiquitin-dependent internalization of receptors and their ligands into late endosomes for lysosomal degradation. Homozygous mice bearing the hypomorphic human PLAA mutation G23V (603873.0002), generated by CRISPR/Cas9 editing, were viable, but showed early-onset progressive neurologic dysfunction with smaller brains and reductions in corpus callosum and cerebellar volumes compared to controls. Mutant mice also showed tremor and motor disorders, including altered gait, neuromuscular weakness and wasting, hypomotility, reduced grip strength, and kyphosis. These features were consistent with a disturbance in cerebellar motor circuits; cerebellar Purkinje cells from mutant mice showed abnormal migration patterns and dendritic branching. Proteome analysis showed abnormal expression of proteins involved in vesicular transport. Examination of the neuromuscular junction in mutant mice showed decreases in synaptic vesicle numbers with enlarged endosomal and vacuolar structures, consistent with impaired vesicle fusion and recycling, resulting in defective synaptic function. Mutant brains showed specific accumulation of K63-polyUb species, also consistent with a defect in post-endocytic degradation of ubiquitylated membrane proteins.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly, progressive Face \- Long philtrum \- Flat philtrum \- Micrognathia Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Nystagmus \- Optic atrophy (in some patients) \- Roving eye movements Nose \- Short nose Mouth \- High-arched palate \- Tented upper lip RESPIRATORY \- Respiratory insufficiency \- Apnea CHEST External Features \- Chest deformities (in some patients) Ribs Sternum Clavicles & Scapulae \- Pectus carinatum (in some patients) ABDOMEN Gastrointestinal \- Feeding difficulties \- Poor sucking \- Poor swallowing SKELETAL \- Contractures of the large joints \- Distal contractures \- Hyperextensibility of the small joints Spine \- Kyphosis Hands \- Single palmar creases \- Postaxial polydactyly \- Long fingers Feet \- Rocker bottom feet \- Postaxial polydactyly SKIN, NAILS, & HAIR Skin \- Hyperhidrosis of the palms and feet \- Edema of the hands and feet Hair \- Hirsutism MUSCLE, SOFT TISSUES \- Central hypotonia \- Bulbar weakness \- Peripheral hypertonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Mental retardation \- Absent or delayed speech \- Spastic quadriparesis, progressive \- Extrapyramidal signs \- Dystonic posturing \- Rigidity \- Hypomimia \- Exaggerated startle response \- Seizures (in some patients) \- Leukoencephalopathy, progressive \- White matter atrophy \- Delayed myelination \- Thin corpus callosum \- Enlarged ventricles \- Cortical atrophy \- Gyral abnormalities MISCELLANEOUS \- Onset at birth \- Variable severity \- Some patients die in early childhood MOLECULAR BASIS \- Caused by mutation in the phospholipase A2-activating protein gene (PLAA, 603873.0001 ) ▲ 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
|
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
|
c4479631
| 25,234 |
omim
|
https://www.omim.org/entry/617527
| 2019-09-22T15:45:38 |
{"omim": ["617527"], "orphanet": ["521426"], "synonyms": ["PLAAND"]}
|
Enamel infractions are microcracks seen within the dental enamel of a tooth. They are commonly the result of dental trauma to the brittle enamel, which remains adherent to the underlying dentine. They can be seen more clearly when transillumination is used.
Enamel infractions are found more often in older teeth, as the accumulated trauma is greatest. Enamel infractions can also be found as a result of iatrogenic damage inadvertently caused by instrumentation during dental treatments.
## Treatment[edit]
Minor infraction may not require any treatment, however major infraction may require treatment including smoothing, fluoride treatment and crown restoration.[1]
## References[edit]
1. ^ "Infraction – Dental Trauma Guide". dentaltraumaguide.org. Retrieved 2018-02-07.
This dentistry article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Enamel infraction
|
c4325573
| 25,235 |
wikipedia
|
https://en.wikipedia.org/wiki/Enamel_infraction
| 2021-01-18T18:33:12 |
{"wikidata": ["Q5375192"]}
|
## Clinical Features
Vergara et al. (2006) reported a 10-day-old male infant in whom echocardiography showed anomalous origin of the right pulmonary artery (ARPA) from the ascending aorta, patent foramen ovale, a small subaortic ventricular septal defect, and patent ductus arteriosus. The left pulmonary artery originated from the pulmonary trunk but was stenotic at the origin. The patient's father had undergone cardiac catheterization at 7 months of age, which showed a large aortopulmonary window, patent foramen ovale, ventricular septal defect, and small patent ductus arteriosus. Vergara et al. (2006) also reported a second family that had a newborn male with echocardiographic diagnosis of ARPA without associated congenital heart disease and a newborn girl from another branch of the family with ARPA, patent ductus arteriosus, atrial septal defect, and aortic coarctation by echocardiography. None of the patients had any dysmorphic features, and neuropsychologic development was normal. No associated malformations were detected by cerebral and renal ultrasonography in the 3 infants.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Right pulmonary artery, anomalous origin of \- Patent foramen ovale \- Atrial septal defect \- Ventricular septal defect Vascular \- Patent ductus arteriosus \- Aortic coarctation ▲ 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
|
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
|
c1835910
| 25,236 |
omim
|
https://www.omim.org/entry/610338
| 2019-09-22T16:04:42 |
{"mesh": ["C535681"], "omim": ["610338"], "synonyms": ["Alternative titles", "RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS", "ARPA, FAMILIAL"]}
|
A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Gallbladder neuroendocrine tumor
|
c3273116
| 25,237 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100086
| 2021-01-23T19:04:16 |
{"icd-10": ["C23"]}
|
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
## Epidemiology
Resistance to TSH occurs in about 5% of cases of permanent congenital hypothyroidism.
## Clinical description
Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.
## Etiology
Mutations in the TSH receptor gene (TSHR; 14q31) result in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia (see this term).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypothyroidism due to TSH receptor mutations
|
c3493776
| 25,238 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90673
| 2021-01-23T17:12:30 |
{"mesh": ["C576976"], "omim": ["275200"], "icd-10": ["E03.1"]}
|
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Ameboma" – news · newspapers · books · scholar · JSTOR (May 2015)
An ameboma, also known as an amebic granuloma, is a rare complication of Entamoeba histolytica infection, where in response to the infecting amoeba there is formation of annular colonic granulation, which results in a large local lesion of the bowel.[1]
## Presentation[edit]
The ameboma may manifest as a right lower quadrant abdominal mass, which may be mistaken for carcinoma, tuberculosis, Crohn's disease, actinomycosis, or lymphoma.
## Diagnosis[edit]
Biopsy is necessary for definitive diagnosis.
## References[edit]
1. ^ Amebiasis at eMedicine
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ameboma
|
c0002445
| 25,239 |
wikipedia
|
https://en.wikipedia.org/wiki/Ameboma
| 2021-01-18T18:42:53 |
{"mesh": ["D000562"], "umls": ["C0002445"], "wikidata": ["Q4742079"]}
|
Klebsiella is a type of bacteria commonly found in nature. In humans, the bacteria are often present in parts of the digestive tract where they do not generally cause problems. In the United States, Klebsiella pneumoniae and Klebsiella oxytoca are the two strains responsible for most human illnesses. Many Klebsiella infections are acquired in the hospital setting or in long-term care facilities. In fact, Klebsiellae account for up to 8% of all hospital-acquired infections. People with a compromised immune system and/or people who have an implanted medical device (such as a urinary catheter or airway tube) are more at risk for Klebsiella infections. Extensive use of antibiotics has resulted in the development of antibiotic-resistant strains of Klebsiella. These infections can be more aggressive and difficult to treat.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Klebsiella infection
|
c0022729
| 25,240 |
gard
|
https://rarediseases.info.nih.gov/diseases/10085/klebsiella-infection
| 2021-01-18T17:59:35 |
{"mesh": ["D007710"], "synonyms": ["Klebsiella"]}
|
Tuberculous pericarditis
SpecialtyInfectious disease
Tuberculous pericarditis is a form of pericarditis.
Pericarditis caused by tuberculosis is difficult to diagnose, because definitive diagnosis requires culturing Mycobacterium tuberculosis from aspirated pericardial fluid or pericardial biopsy, which requires high technical skill and is often not diagnostic (the yield from culture is low even with optimum specimens). The Tygerberg scoring system helps the clinician to decide whether pericarditis is due to tuberculosis or whether it is due to another cause: night sweats (1 point), weight loss (1 point), fever (2 point), serum globulin > 40g/l (3 points), blood total leucocyte count <10 x 109/l (3 points); a total score of 6 or more is highly suggestive of tuberculous pericarditis.[1] Pericardial fluid with an interferon-γ level greater than 50pg/ml is highly specific for tuberculous pericarditis.
There are no randomized trials which evaluate the length of anti-tuberculosis treatment required for tuberculous pericarditis.[2] There is a small but not conclusive benefit for treatment with a schedule of steroids with anti-tuberculosis drugs. Open surgical drainage of fluid though effective in preventing cardiac tamponade was associated with more deaths.[3][needs update]
## References[edit]
1. ^ Reuter H, Burgess L, van Vuuren W, Doubell A (2006). "Diagnosing tuberculous pericarditis". Q J Med. 99 (12): 827–39. doi:10.1093/qjmed/hcl123. PMID 17121764.
2. ^ Wiysonge, Charles S.; Ntsekhe, Mpiko; Thabane, Lehana; Volmink, Jimmy; Majombozi, Dumisani; Gumedze, Freedom; Pandie, Shaheen; Mayosi, Bongani M. (13 September 2017). "Interventions for treating tuberculous pericarditis". The Cochrane Database of Systematic Reviews. 9: CD000526. doi:10.1002/14651858.CD000526.pub2. ISSN 1469-493X. PMC 5618454. PMID 28902412.
3. ^ Mayosi BM. (2002). Mayosi, Bongani M (ed.). "Interventions for treating tuberculous pericarditis". Cochrane Database of Systematic Reviews (4): CD000526. doi:10.1002/14651858.CD000526. PMC 5618454. PMID 12519546.
## External links[edit]
Classification
D
* MeSH: D010495
* v
* t
* e
Gram-positive bacterial infection: Actinobacteria
Actinomycineae
Actinomycetaceae
* Actinomyces israelii
* Actinomycosis
* Cutaneous actinomycosis
* Tropheryma whipplei
* Whipple's disease
* Arcanobacterium haemolyticum
* Arcanobacterium haemolyticum infection
* Actinomyces gerencseriae
Propionibacteriaceae
* Propionibacterium acnes
Corynebacterineae
Mycobacteriaceae
M. tuberculosis/
M. bovis
* Tuberculosis: Ghon focus/Ghon's complex
* Pott disease
* brain
* Meningitis
* Rich focus
* Tuberculous lymphadenitis
* Tuberculous cervical lymphadenitis
* cutaneous
* Scrofuloderma
* Erythema induratum
* Lupus vulgaris
* Prosector's wart
* Tuberculosis cutis orificialis
* Tuberculous cellulitis
* Tuberculous gumma
* Lichen scrofulosorum
* Tuberculid
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Miliary
* Tuberculous pericarditis
* Urogenital tuberculosis
* Multi-drug-resistant tuberculosis
* Extensively drug-resistant tuberculosis
M. leprae
* Leprosy: Tuberculoid leprosy
* Borderline tuberculoid leprosy
* Borderline leprosy
* Borderline lepromatous leprosy
* Lepromatous leprosy
* Histoid leprosy
Nontuberculous
R1:
* M. kansasii
* M. marinum
* Aquarium granuloma
R2:
* M. gordonae
R3:
* M. avium complex/Mycobacterium avium/Mycobacterium intracellulare/MAP
* MAI infection
* M. ulcerans
* Buruli ulcer
* M. haemophilum
R4/RG:
* M. fortuitum
* M. chelonae
* M. abscessus
Nocardiaceae
* Nocardia asteroides/Nocardia brasiliensis/Nocardia farcinica
* Nocardiosis
* Rhodococcus equi
Corynebacteriaceae
* Corynebacterium diphtheriae
* Diphtheria
* Corynebacterium minutissimum
* Erythrasma
* Corynebacterium jeikeium
* Group JK corynebacterium sepsis
Bifidobacteriaceae
* Gardnerella vaginalis
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tuberculous pericarditis
|
c0031049
| 25,241 |
wikipedia
|
https://en.wikipedia.org/wiki/Tuberculous_pericarditis
| 2021-01-18T19:11:00 |
{"mesh": ["D010495"], "umls": ["C0031049"], "wikidata": ["Q7850856"]}
|
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-74 (RP74) is caused by homozygous or compound heterozygous mutation in the BBS2 gene (606151) on chromosome 16q13.
Clinical Features
Shevach et al. (2015) reported a Moroccan Jewish family in which 3 sibs had nonsyndromic retinitis pigmentosa. The proband received a diagnosis of RP at age 20 years following complaints of impaired night vision and constricted visual fields. At age 32, her electroretinographic responses were undetectable. At age 49, her visual acuity was at the level of hand motions, and posterior polar cataract and posterior subcapsular opacity were evident. Fundus findings were compatible with advanced RP, including moderate pallor of the optic disc, widespread atrophy, and pigmentary changes. Optical coherence tomography revealed severe thinning of the outer nuclear layer and the epiretinal membranes. By age 53, her visual acuity decreased to the level of light perception with partial projection in both eyes. Two of her brothers had a similar course of retinal degeneration. None of the sibs manifested characteristic systemic features of Bardet-Biedl syndrome (see BBS2, 615981).
Inheritance
Shevach et al. (2015) determined that nonsyndromic retinitis pigmentosa-74 is inherited in an autosomal recessive manner.
Molecular Genetics
In a Moroccan Jewish family in which 3 sibs with nonsyndromic retinitis pigmentosa were found to be negative for mutations in previously reported RP-associated genes, Shevach et al. (2015) performed exome sequencing of the BBS2 gene and identified compound heterozygous missense mutations (A33D, 606151.0019 and P134R, 606151.0020) that segregated with the disorder. In further studies of 4 Ashkenazi Jewish families, Shevach et al. (2015) identified additional homozygous and compound heterozygous mutations in the BBS2 gene (see, e.g., 606151.0009-606151.0010).
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Impaired night vision \- Constricted visual fields \- Undetectable ERG responses \- Posterior polar cataract \- Posterior subcapsular opacity \- Optic disc pallor, moderate \- Pigmentary retinopathy \- Thinning of the outer nuclear layer of the epiretinal membranes seen on optical coherence tomography MISCELLANEOUS \- Moroccan Jewish and Ashkenazi Jewish families have been described \- No extraocular findings MOLECULAR BASIS \- Caused by mutation in the BBS2 gene (BBS2, 606151.0018 ) ▲ 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
|
RETINITIS PIGMENTOSA 74
|
c0035334
| 25,242 |
omim
|
https://www.omim.org/entry/616562
| 2019-09-22T15:48:35 |
{"doid": ["0110401"], "mesh": ["D012174"], "omim": ["616562"], "orphanet": ["791"]}
|
A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Common cystic lymphatic malformation
|
None
| 25,243 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458833
| 2021-01-23T17:14:21 |
{}
|
Endocrine gland cancer located in the pancreas
Pancreatic cancer
Diagram showing the position of the pancreas, behind the stomach (which is transparent in this schematic).
SpecialtyGastroenterology Hepatology Oncology
SymptomsYellow skin, abdominal or back pain, unexplained weight loss, light-colored stools, dark urine, loss of appetite[1]
Usual onsetAfter 40 years old[2]
Risk factorsTobacco smoking, heavy alcohol intake, obesity, diabetes, certain rare genetic conditions[2]
Diagnostic methodMedical imaging, blood tests, tissue biopsy[3][4]
PreventionNot smoking, low alcohol intake, maintaining a healthy weight, low red meat diet[5]
TreatmentSurgery, radiotherapy, chemotherapy, palliative care[1]
PrognosisFive year survival rate 6%[6]
Frequency393,800 (2015)[7]
Deaths411,600 (2015)[8]
Pancreatic cancer arises when cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a mass. These cancerous cells have the ability to invade other parts of the body.[9] A number of types of pancreatic cancer are known.[10]
The most common, pancreatic adenocarcinoma, accounts for about 90% of cases,[11] and the term "pancreatic cancer" is sometimes used to refer only to that type.[10] These adenocarcinomas start within the part of the pancreas that makes digestive enzymes.[10] Several other types of cancer, which collectively represent the majority of the nonadenocarcinomas, can also arise from these cells.[10] About 1–2% of cases of pancreatic cancer are neuroendocrine tumors, which arise from the hormone-producing cells of the pancreas.[10] These are generally less aggressive than pancreatic adenocarcinoma.[10]
Signs and symptoms of the most-common form of pancreatic cancer may include yellow skin, abdominal or back pain, unexplained weight loss, light-colored stools, dark urine, and loss of appetite.[1] Usually, no symptoms are seen in the disease's early stages, and symptoms that are specific enough to suggest pancreatic cancer typically do not develop until the disease has reached an advanced stage.[1][2] By the time of diagnosis, pancreatic cancer has often spread to other parts of the body.[10][12]
Pancreatic cancer rarely occurs before the age of 40, and more than half of cases of pancreatic adenocarcinoma occur in those over 70.[2] Risk factors for pancreatic cancer include tobacco smoking, obesity, diabetes, and certain rare genetic conditions.[2] About 25% of cases are linked to smoking,[3] and 5–10% are linked to inherited genes.[2] Pancreatic cancer is usually diagnosed by a combination of medical imaging techniques such as ultrasound or computed tomography, blood tests, and examination of tissue samples (biopsy).[3][4] The disease is divided into stages, from early (stage I) to late (stage IV).[12] Screening the general population has not been found to be effective.[13]
The risk of developing pancreatic cancer is lower among nonsmokers, and people who maintain a healthy weight and limit their consumption of red or processed meat.[5] Smokers' chances of developing the disease decrease if they stop smoking and almost return to that of the rest of the population after 20 years.[10] Pancreatic cancer can be treated with surgery, radiotherapy, chemotherapy, palliative care, or a combination of these.[1] Treatment options are partly based on the cancer stage.[1] Surgery is the only treatment that can cure pancreatic adenocarcinoma,[12] and may also be done to improve quality of life without the potential for cure.[1][12] Pain management and medications to improve digestion are sometimes needed.[12] Early palliative care is recommended even for those receiving treatment that aims for a cure.[14]
In 2015, pancreatic cancers of all types resulted in 411,600 deaths globally.[8] Pancreatic cancer is the fifth most-common cause of death from cancer in the United Kingdom,[15] and the third most-common in the United States.[16] The disease occurs most often in the developed world, where about 70% of the new cases in 2012 originated.[10] Pancreatic adenocarcinoma typically has a very poor prognosis; after diagnosis, 25% of people survive one year and 5% live for five years.[6][10] For cancers diagnosed early, the five-year survival rate rises to about 20%.[17] Neuroendocrine cancers have better outcomes; at five years from diagnosis, 65% of those diagnosed are living, though survival varies considerably depending on the type of tumor.[10]
## Contents
* 1 Types
* 1.1 Exocrine cancers
* 1.2 Neuroendocrine
* 2 Signs and symptoms
* 2.1 Other findings
* 2.2 Symptoms of spread
* 3 Risk factors
* 3.1 Alcohol
* 4 Pathophysiology
* 4.1 Precancer
* 4.2 Invasive cancer
* 4.3 PanNETs
* 5 Diagnosis
* 5.1 Histopathology
* 5.2 Staging
* 5.2.1 Exocrine cancers
* 5.2.2 PanNETs
* 6 Prevention and screening
* 7 Management
* 7.1 Exocrine cancer
* 7.1.1 Surgery
* 7.1.2 Chemotherapy
* 7.1.3 Radiotherapy
* 7.2 PanNETs
* 7.3 Palliative care
* 8 Outcomes
* 9 Distribution
* 9.1 PanNETs
* 10 History
* 10.1 Recognition and diagnosis
* 10.2 Surgery
* 11 Research directions
* 12 See also
* 13 References
* 14 External links
## Types[edit]
The pancreas has many functions, served by the endocrine cells in the islets of Langerhans and the exocrine acinar cells. Pancreatic cancer may arise from any of these and disrupt any of their functions.
The many types of pancreatic cancer can be divided into two general groups. The vast majority of cases (about 95%) occur in the part of the pancreas that produces digestive enzymes, known as the exocrine component. Several subtypes of exocrine pancreatic cancers are described, but their diagnosis and treatment have much in common. The small minority of cancers that arise in the hormone-producing (endocrine) tissue of the pancreas have different clinical characteristics and are called pancreatic neuroendocrine tumors, sometimes abbreviated as "PanNETs". Both groups occur mainly (but not exclusively) in people over 40, and are slightly more common in men, but some rare subtypes mainly occur in women or children.[18][19]
### Exocrine cancers[edit]
The exocrine group is dominated by pancreatic adenocarcinoma (variations of this name may add "invasive" and "ductal"), which is by far the most common type, representing about 85% of all pancreatic cancers.[2] Nearly all these start in the ducts of the pancreas, as pancreatic ductal adenocarcinoma (PDAC).[20] This is despite the fact that the tissue from which it arises – the pancreatic ductal epithelium – represents less than 10% of the pancreas by cell volume, because it constitutes only the ducts (an extensive but capillary-like duct-system fanning out) within the pancreas.[21] This cancer originates in the ducts that carry secretions (such as enzymes and bicarbonate) away from the pancreas. About 60–70% of adenocarcinomas occur in the head of the pancreas.[2]
The next-most common type, acinar cell carcinoma of the pancreas, arises in the clusters of cells that produce these enzymes, and represents 5% of exocrine pancreas cancers.[22] Like the 'functioning' endocrine cancers described below, acinar cell carcinomas may cause over-production of certain molecules, in this case digestive enzymes, which may cause symptoms such as skin rashes and joint pain.
Cystadenocarcinomas account for 1% of pancreatic cancers, and they have a better prognosis than the other exocrine types.[22]
Pancreatoblastoma is a rare form, mostly occurring in childhood, and with a relatively good prognosis. Other exocrine cancers include adenosquamous carcinomas, signet ring cell carcinomas, hepatoid carcinomas, colloid carcinomas, undifferentiated carcinomas, and undifferentiated carcinomas with osteoclast-like giant cells. Solid pseudopapillary tumor is a rare low-grade neoplasm that mainly affects younger women, and generally has a very good prognosis.[2][23]
Pancreatic mucinous cystic neoplasms are a broad group of pancreas tumors that have varying malignant potential. They are being detected at a greatly increased rate as CT scans become more powerful and common, and discussion continues as how best to assess and treat them, given that many are benign.[24]
### Neuroendocrine[edit]
Main article: Pancreatic neuroendocrine tumor
The small minority of tumors that arise elsewhere in the pancreas are mainly pancreatic neuroendocrine tumors (PanNETs).[25] Neuroendocrine tumors (NETs) are a diverse group of benign or malignant tumors that arise from the body's neuroendocrine cells, which are responsible for integrating the nervous and endocrine systems. NETs can start in most organs of the body, including the pancreas, where the various malignant types are all considered to be rare. PanNETs are grouped into 'functioning' and 'nonfunctioning' types, depending on the degree to which they produce hormones. The functioning types secrete hormones such as insulin, gastrin, and glucagon into the bloodstream, often in large quantities, giving rise to serious symptoms such as low blood sugar, but also favoring relatively early detection. The most common functioning PanNETs are insulinomas and gastrinomas, named after the hormones they secrete. The nonfunctioning types do not secrete hormones in a sufficient quantity to give rise to overt clinical symptoms, so nonfunctioning PanNETs are often diagnosed only after the cancer has spread to other parts of the body.[26]
As with other neuroendocrine tumors, the history of the terminology and classification of PanNETs is complex.[25] PanNETs are sometimes called "islet cell cancers",[27] though they are now known to not actually arise from islet cells as previously thought.[26]
## Signs and symptoms[edit]
Jaundice can be a symptom, due to biliary obstruction from a pancreatic tumor.
Since pancreatic cancer usually does not cause recognizable symptoms in its early stages, the disease is typically not diagnosed until it has spread beyond the pancreas itself.[4] This is one of the main reasons for the generally poor survival rates. Exceptions to this are the functioning PanNETs, where over-production of various active hormones can give rise to symptoms (which depend on the type of hormone).[28]
Bearing in mind that the disease is rarely diagnosed before the age of 40, common symptoms of pancreatic adenocarcinoma occurring before diagnosis include:
* Pain in the upper abdomen or back, often spreading from around the stomach to the back. The location of the pain can indicate the part of the pancreas where a tumor is located. The pain may be worse at night and may increase over time to become severe and unremitting.[22] It may be slightly relieved by bending forward. In the UK, about half of new cases of pancreatic cancer are diagnosed following a visit to a hospital emergency department for pain or jaundice. In up to two-thirds of people, abdominal pain is the main symptom, for 46% of the total accompanied by jaundice, with 13% having jaundice without pain.[12]
* Jaundice, a yellow tint to the whites of the eyes or skin, with or without pain, and possibly in combination with darkened urine, results when a cancer in the head of the pancreas obstructs the common bile duct as it runs through the pancreas.[29]
* Unexplained weight loss, either from loss of appetite, or loss of exocrine function resulting in poor digestion.[12]
* The tumor may compress neighboring organs, disrupting digestive processes and making it difficult for the stomach to empty, which may cause nausea and a feeling of fullness. The undigested fat leads to foul-smelling, fatty feces that are difficult to flush away.[12] Constipation is also common.[30]
* At least 50% of people with pancreatic adenocarcinoma have diabetes at the time of diagnosis.[2] While long-standing diabetes is a known risk factor for pancreatic cancer (see Risk factors), the cancer can itself cause diabetes, in which case recent onset of diabetes could be considered an early sign of the disease.[31] People over 50 who develop diabetes have eight times the usual risk of developing pancreatic adenocarcinoma within three years, after which the relative risk declines.[12]
### Other findings[edit]
* Trousseau's syndrome, in which blood clots form spontaneously in the portal blood vessels, the deep veins of the extremities, or the superficial veins anywhere on the body, may be associated with pancreatic cancer, and is found in about 10% of cases.[3]
* Clinical depression has been reported in association with pancreatic cancer in some 10–20% of cases, and can be a hindrance to optimal management. The depression sometimes appears before the diagnosis of cancer, suggesting that it may be brought on by the biology of the disease.[3]
Other common manifestations of the disease include weakness and tiring easily, dry mouth, sleep problems, and a palpable abdominal mass.[30]
### Symptoms of spread[edit]
Cross-section of a human liver, at autopsy, showing many large pale tumor deposits, that are secondary tumors derived from pancreatic cancer
The spread of pancreatic cancer to other organs (metastasis) may also cause symptoms. Typically, pancreatic adenocarcinoma first spreads to nearby lymph nodes, and later to the liver or to the peritoneal cavity, large intestine, or lungs.[3] Uncommonly, it spreads to the bones or brain.[32]
Cancers in the pancreas may also be secondary cancers that have spread from other parts of the body. This is uncommon, found in only about 2% of cases of pancreatic cancer. Kidney cancer is by far the most common cancer to spread to the pancreas, followed by colorectal cancer, and then cancers of the skin, breast, and lung. Surgery may be performed on the pancreas in such cases, whether in hope of a cure or to alleviate symptoms.[33]
## Risk factors[edit]
Risk factors for pancreatic adenocarcinoma include:[2][10][12][34][35]
* Age, sex, and ethnicity – the risk of developing pancreatic cancer increases with age. Most cases occur after age 65,[10] while cases before age 40 are uncommon. The disease is slightly more common in men than in women.[10] In the United States, it is over 1.5 times more common in African Americans, though incidence in Africa is low.[10]
* Cigarette smoking is the best-established avoidable risk factor for pancreatic cancer, approximately doubling risk among long-term smokers, the risk increasing with the number of cigarettes smoked and the years of smoking. The risk declines slowly after smoking cessation, taking some 20 years to return to almost that of nonsmokers.[36]
* Obesity \- a body mass index greater than 35 increases relative risk by about half.[12] [37]
* Family history – 5–10% of pancreatic cancer cases have an inherited component, where people have a family history of pancreatic cancer.[2][38] The risk escalates greatly if more than one first-degree relative had the disease, and more modestly if they developed it before the age of 50.[4] Most of the genes involved have not been identified.[2][39] Hereditary pancreatitis gives a greatly increased lifetime risk of pancreatic cancer of 30–40% to the age of 70.[3] Screening for early pancreatic cancer may be offered to individuals with hereditary pancreatitis on a research basis.[40] Some people may choose to have their pancreas surgically removed to prevent cancer from developing in the future.[3]
Pancreatic cancer has been associated with these other rare hereditary syndromes: Peutz–Jeghers syndrome due to mutations in the STK11 tumor suppressor gene (very rare, but a very strong risk factor); dysplastic nevus syndrome (or familial atypical multiple mole and melanoma syndrome, FAMMM-PC) due to mutations in the CDKN2A tumor suppressor gene; autosomal recessive ataxia-telangiectasia and autosomal dominantly inherited mutations in the BRCA2 and PALB2 genes; hereditary non-polyposis colon cancer (Lynch syndrome); and familial adenomatous polyposis. PanNETs have been associated with multiple endocrine neoplasia type 1 (MEN1) and von Hippel Lindau syndromes.[2][3][4]
* Chronic pancreatitis appears to almost triple risk, and as with diabetes, new-onset pancreatitis may be a symptom of a tumor.[3] The risk of pancreatic cancer in individuals with familial pancreatitis is particularly high.[3][39]
* Diabetes mellitus is a risk factor for pancreatic cancer and (as noted in the Signs and symptoms section) new-onset diabetes may also be an early sign of the disease. People who have been diagnosed with type 2 diabetes for longer than 10 years may have a 50% increased risk, as compared with individuals without diabetes.[3]
* Specific types of food (as distinct from obesity) have not been clearly shown to increase the risk of pancreatic cancer.[2][41] Dietary factors for which some evidence shows slightly increased risk include processed meat, red meat, and meat cooked at very high temperatures (e.g. by frying, broiling, or grilling).[41][42]
### Alcohol[edit]
Drinking alcohol excessively is a major cause of chronic pancreatitis, which in turn predisposes to pancreatic cancer, but considerable research has failed to firmly establish alcohol consumption as a direct risk factor for pancreatic cancer. Overall, the association is consistently weak and the majority of studies have found no association, with smoking a strong confounding factor. The evidence is stronger for a link with heavy drinking, of at least six drinks per day.[3][43]
## Pathophysiology[edit]
Micrograph of pancreatic ductal adenocarcinoma (the most common type of pancreatic cancer), H&E stain
### Precancer[edit]
Micrographs of normal pancreas, pancreatic intraepithelial neoplasia (precursors to pancreatic carcinoma) and pancreatic carcinoma. H&E stain
Exocrine cancers are thought to arise from several types of precancerous lesions within the pancreas, but these lesions do not always progress to cancer, and the increased numbers detected as a byproduct of the increasing use of CT scans for other reasons are not all treated.[3] Apart from pancreatic serous cystadenomas, which are almost always benign, four types of precancerous lesion are recognized.
The first is pancreatic intraepithelial neoplasia. These lesions are microscopic abnormalities in the pancreas and are often found in autopsies of people with no diagnosed cancer. These lesions may progress from low to high grade and then to a tumor. More than 90% of cases at all grades carry a faulty KRAS gene, while in grades 2 and 3, damage to three further genes – CDKN2A (p16), p53, and SMAD4 – are increasingly often found.[2]
A second type is the intraductal papillary mucinous neoplasm (IPMN). These are macroscopic lesions, which are found in about 2% of all adults. This rate rises to about 10% by age 70. These lesions have about a 25% risk of developing into invasive cancer. They may have KRAS gene mutations (40–65% of cases) and in the GNAS Gs alpha subunit and RNF43, affecting the Wnt signaling pathway.[2] Even if removed surgically, a considerably increased risk remains of pancreatic cancer developing subsequently.[3]
The third type, pancreatic mucinous cystic neoplasm (MCN), mainly occurs in women, and may remain benign or progress to cancer.[44] If these lesions become large, cause symptoms, or have suspicious features, they can usually be successfully removed by surgery.[3]
A fourth type of cancer that arises in the pancreas is the intraductal tubulopapillary neoplasm. This type was recognised by the WHO in 2010 and constitutes about 1–3% of all pancreatic neoplasms. Mean age at diagnosis is 61 years (range 35–78 years). About 50% of these lesions become invasive. Diagnosis depends on histology, as these lesions are very difficult to differentiate from other lesions on either clinical or radiological grounds.[45]
### Invasive cancer[edit]
The genetic events found in ductal adenocarcinoma have been well characterized, and complete exome sequencing has been done for the common types of tumor. Four genes have each been found to be mutated in the majority of adenocarcinomas: KRAS (in 95% of cases), CDKN2A (also in 95%), TP53 (75%), and SMAD4 (55%). The last of these is especially associated with a poor prognosis.[3] SWI/SNF mutations/deletions occur in about 10–15% of the adenocarcinomas.[2] The genetic alterations in several other types of pancreatic cancer and precancerous lesions have also been researched.[3] Transcriptomics analyses and mRNA sequencing for the common forms of pancreatic cancer have found that 75% of human genes are expressed in the tumors, with some 200 genes more specifically expressed in pancreatic cancer as compared to other tumor types.[46][47]
### PanNETs[edit]
The genes often found mutated in PanNETs are different from those in exocrine pancreatic cancer.[48] For example, KRAS mutation is normally absent. Instead, hereditary MEN1 gene mutations give rise to MEN1 syndrome, in which primary tumors occur in two or more endocrine glands. About 40–70% of people born with a MEN1 mutation eventually develop a PanNet.[49] Other genes that are frequently mutated include DAXX, mTOR, and ATRX.[26]
## Diagnosis[edit]
The head, body, and tail of the pancreas: The stomach is faded out in this image to show the entire pancreas, of which the body and tail lie behind the stomach, and the neck partially behind.
Axial CT image with IV contrast and added color: Cross lines towards top left surround a macrocystic adenocarcinoma of the pancreatic head.
Abdominal ultrasonography of pancreatic cancer (presumably adenocarcinoma), with a dilated pancreatic duct to the right.
The symptoms of pancreatic adenocarcinoma do not usually appear in the disease's early stages, and they are not individually distinctive to the disease.[3][12][29] The symptoms at diagnosis vary according to the location of the cancer in the pancreas, which anatomists divide (from left to right on most diagrams) into the thick head, the neck, and the tapering body, ending in the tail.
Regardless of a tumor's location, the most common symptom is unexplained weight loss, which may be considerable. A large minority (between 35% and 47%) of people diagnosed with the disease will have had nausea, vomiting, or a feeling of weakness. Tumors in the head of the pancreas typically also cause jaundice, pain, loss of appetite, dark urine, and light-colored stools. Tumors in the body and tail typically also cause pain.[29]
People sometimes have recent onset of atypical type 2 diabetes that is difficult to control, a history of recent but unexplained blood vessel inflammation caused by blood clots (thrombophlebitis) known as Trousseau sign, or a previous attack of pancreatitis.[29] A doctor may suspect pancreatic cancer when the onset of diabetes in someone over 50 years old is accompanied by typical symptoms such as unexplained weight loss, persistent abdominal or back pain, indigestion, vomiting, or fatty feces.[12] Jaundice accompanied by a painlessly swollen gallbladder (known as Courvoisier's sign) may also raise suspicion, and can help differentiate pancreatic cancer from gallstones.[50]
Medical imaging techniques, such as computed tomography (CT scan) and endoscopic ultrasound (EUS) are used both to confirm the diagnosis and to help decide whether the tumor can be surgically removed (its "resectability").[12] On contrast CT scan, pancreatic cancer typically shows a gradually increasing radiocontrast uptake, rather than a fast washout as seen in a normal pancreas or a delayed washout as seen in chronic pancreatitis.[51] Magnetic resonance imaging and positron emission tomography may also be used,[2] and magnetic resonance cholangiopancreatography may be useful in some cases.[29] Abdominal ultrasound is less sensitive and will miss small tumors, but can identify cancers that have spread to the liver and build-up of fluid in the peritoneal cavity (ascites).[12] It may be used for a quick and cheap first examination before other techniques.[52]
Fine needle aspiration of well-differentiated pancreatic adenocarcinoma, showing a flat sheet with prominent honeycombing. The disorganization, nuclear overlapping, and lack of uniform nuclear spacing provides a clue that is this adenocarcinoma (as opposed to non-neoplastic duct epithelium).
A biopsy by fine needle aspiration, often guided by endoscopic ultrasound, may be used where there is uncertainty over the diagnosis, but a histologic diagnosis is not usually required for removal of the tumor by surgery to go ahead.[12]
Liver function tests can show a combination of results indicative of bile duct obstruction (raised conjugated bilirubin, γ-glutamyl transpeptidase and alkaline phosphatase levels). CA19-9 (carbohydrate antigen 19.9) is a tumor marker that is frequently elevated in pancreatic cancer. However, it lacks sensitivity and specificity, not least because 5% of people lack the Lewis (a) antigen and cannot produce CA19-9. It has a sensitivity of 80% and specificity of 73% in detecting pancreatic adenocarcinoma, and is used for following known cases rather than diagnosis.[2][12]
### Histopathology[edit]
The most common form of pancreatic cancer (adenocarcinoma) is typically characterized by moderately to poorly differentiated glandular structures on microscopic examination. There is typically considerable desmoplasia or formation of a dense fibrous stroma or structural tissue consisting of a range of cell types (including myofibroblasts, macrophages, lymphocytes and mast cells) and deposited material (such as type I collagen and hyaluronic acid). This creates a tumor microenvironment that is short of blood vessels (hypovascular) and so of oxygen (tumor hypoxia).[2] It is thought that this prevents many chemotherapy drugs from reaching the tumor, as one factor making the cancer especially hard to treat.[2][3]
Cancer type Relative incidence[11] Microscopy findings[11] Micrograph Immunohistochemistry markers[11] Genetic alterations[11]
Pancreatic ductal adenocarcinoma (PDAC) 90% Glands and desmoplasia
* Aberrant p53
* SMAD4 loss
* MUC1
* MSLN
* CA19-9
* p53
* SMAD4
* KRAS
* p16
Pancreatic acinar cell carcinoma (ACC) 1% to 2% Granular appearance
* Trypsin
* Chymotrypsin
* Lipase
* p53
* SMAD4
* APC
* ARID1A
* GNAS
Adenosquamous carcinoma 1% to 4%[53] Combination of gland-like cells and squamous epithelial cells. Positive for:
* CK5/6
* CK7
* p63
Negative for:
* CK20
* p16
* p53
* KRAS
* p53
Pancreatic neuroendocrine tumor 5% Multiple nests of tumor cells
Gastrinoma
* Chromogranin
* Synaptophysin
* MEN1
* DAXX/ATRX
Pre-cancer below for comparison:
Precancer:
Intraductal papillary mucinous neoplasm (IPMN) 3% Mucinous epithelial cells.[54] Growth within the pancreatic ducts.[55]
* Mucin 5AC
* KRAS
* GNAS
### Staging[edit]
#### Exocrine cancers[edit]
Pancreatic cancer is usually staged following a CT scan.[29] The most widely used cancer staging system for pancreatic cancer is the one formulated by the American Joint Committee on Cancer (AJCC) together with the Union for International Cancer Control (UICC). The AJCC-UICC staging system designates four main overall stages, ranging from early to advanced disease, based on TNM classification of Tumor size, spread to lymph Nodes, and Metastasis.[56]
To help decide treatment, the tumors are also divided into three broader categories based on whether surgical removal seems possible: in this way, tumors are judged to be "resectable", "borderline resectable", or "unresectable".[57] When the disease is still in an early stage (AJCC-UICC stages I and II), without spread to large blood vessels or distant organs such as the liver or lungs, surgical resection of the tumor can normally be performed, if the patient is willing to undergo this major operation and is thought to be sufficiently fit.[12]
The AJCC-UICC staging system allows distinction between stage III tumors that are judged to be "borderline resectable" (where surgery is technically feasible because the celiac axis and superior mesenteric artery are still free) and those that are "unresectable" (due to more locally advanced disease); in terms of the more detailed TNM classification, these two groups correspond to T3 and T4 respectively.[3]
* Pancreatic cancer staging (TNM classification)
* Stage T1 pancreatic cancer
* Stage T2 pancreatic cancer
* Stage T3 pancreatic cancer
* Stage T4 pancreatic cancer
* Pancreatic cancer in nearby lymph nodes – Stage N1
Pancreatic cancer metastasized – stage M1
Locally advanced adenocarcinomas have spread into neighboring organs, which may be any of the following (in roughly decreasing order of frequency): the duodenum, stomach, transverse colon, spleen, adrenal gland, or kidney. Very often they also spread to the important blood or lymphatic vessels and nerves that run close to the pancreas, making surgery far more difficult. Typical sites for metastatic spread (stage IV disease) are the liver, peritoneal cavity and lungs, all of which occur in 50% or more of fully advanced cases.[58]
#### PanNETs[edit]
The 2010 WHO classification of tumors of the digestive system grades all the pancreatic neuroendocrine tumors (PanNETs) into three categories, based on their degree of cellular differentiation (from "NET G1" through to the poorly differentiated "NET G3").[19] The U.S. National Comprehensive Cancer Network recommends use of the same AJCC-UICC staging system as pancreatic adenocarcinoma.[59]:52 Using this scheme, the stage-by-stage outcomes for PanNETs are dissimilar to those of the exocrine cancers.[60] A different TNM system for PanNETs has been proposed by the European Neuroendocrine Tumor Society.[19]
## Prevention and screening[edit]
Apart from not smoking, the American Cancer Society recommends keeping a healthy weight, and increasing consumption of fruits, vegetables, and whole grains, while decreasing consumption of red and processed meat, although there is no consistent evidence this will prevent or reduce pancreatic cancer specifically.[61] A 2014 review of research concluded that there was evidence that consumption of citrus fruits and curcumin reduced risk of pancreatic cancer, while there was possibly a beneficial effect from whole grains, folate, selenium, and non-fried fish.[43]
In the general population, screening of large groups is not considered effective and may be harmful as of 2019,[62] although newer techniques, and the screening of tightly targeted groups, are being evaluated.[63][64] Nevertheless, regular screening with endoscopic ultrasound and MRI/CT imaging is recommended for those at high risk from inherited genetics.[4][52][64][65]
## Management[edit]
### Exocrine cancer[edit]
A key assessment that is made after diagnosis is whether surgical removal of the tumor is possible (see Staging), as this is the only cure for this cancer. Whether or not surgical resection can be offered depends on how much the cancer has spread. The exact location of the tumor is also a significant factor, and CT can show how it relates to the major blood vessels passing close to the pancreas. The general health of the person must also be assessed, though age in itself is not an obstacle to surgery.[3]
Chemotherapy and, to a lesser extent, radiotherapy are likely to be offered to most people, whether or not surgery is possible. Specialists advise that the management of pancreatic cancer should be in the hands of a multidisciplinary team including specialists in several aspects of oncology, and is, therefore, best conducted in larger centers.[2][3]
#### Surgery[edit]
Parts of the body removed in Whipple's operation
Surgery with the intention of a cure is only possible in around one-fifth (20%) of new cases.[12] Although CT scans help, in practice it can be difficult to determine whether the tumor can be fully removed (its "resectability"), and it may only become apparent during surgery that it is not possible to successfully remove the tumor without damaging other vital tissues. Whether or not surgical resection can be offered depends on various factors, including the precise extent of local anatomical adjacency to, or involvement of, the venous or arterial blood vessels,[2] as well as surgical expertise and a careful consideration of projected post-operative recovery.[66][67] The age of the person is not in itself a reason not to operate, but their general performance status needs to be adequate for a major operation.[12]
One particular feature that is evaluated is the encouraging presence, or discouraging absence, of a clear layer or plane of fat creating a barrier between the tumor and the vessels.[3] Traditionally, an assessment is made of the tumor's proximity to major venous or arterial vessels, in terms of "abutment" (defined as the tumor touching no more than half a blood vessel's circumference without any fat to separate it), "encasement" (when the tumor encloses most of the vessel's circumference), or full vessel involvement.[68]:22 A resection that includes encased sections of blood vessels may be possible in some cases,[69][70] particularly if preliminary neoadjuvant therapy is feasible,[71][72][73] using chemotherapy[67][68]:36[74] and/or radiotherapy.[68]:29–30
Even when the operation appears to have been successful, cancerous cells are often found around the edges ("margins") of the removed tissue, when a pathologist examines them microscopically (this will always be done), indicating the cancer has not been entirely removed.[2] Furthermore, cancer stem cells are usually not evident microscopically, and if they are present they may continue to develop and spread.[75][76] An exploratory laparoscopy (a small, camera-guided surgical procedure) may therefore be performed to gain a clearer idea of the outcome of a full operation.[77]
How the pancreas and bowel are joined back together after a Whipple's operation
For cancers involving the head of the pancreas, the Whipple procedure is the most commonly attempted curative surgical treatment. This is a major operation which involves removing the pancreatic head and the curve of the duodenum together ("pancreato-duodenectomy"), making a bypass for food from the stomach to the jejunum ("gastro-jejunostomy") and attaching a loop of jejunum to the cystic duct to drain bile ("cholecysto-jejunostomy"). It can be performed only if the person is likely to survive major surgery and if the cancer is localized without invading local structures or metastasizing. It can, therefore, be performed only in a minority of cases. Cancers of the tail of the pancreas can be resected using a procedure known as a distal pancreatectomy, which often also entails removal of the spleen.[2][3] Nowadays, this can often be done using minimally invasive surgery.[2][3]
Although curative surgery no longer entails the very high death rates that occurred until the 1980s, a high proportion of people (about 30–45%) still have to be treated for a post-operative sickness that is not caused by the cancer itself. The most common complication of surgery is difficulty in emptying the stomach.[3] Certain more limited surgical procedures may also be used to ease symptoms (see Palliative care): for instance, if the cancer is invading or compressing the duodenum or colon. In such cases, bypass surgery might overcome the obstruction and improve quality of life but is not intended as a cure.[12]
#### Chemotherapy[edit]
After surgery, adjuvant chemotherapy with gemcitabine or 5-FU can be offered if the person is sufficiently fit, after a recovery period of one to two months.[4][52] In people not suitable for curative surgery, chemotherapy may be used to extend life or improve its quality.[3] Before surgery, neoadjuvant chemotherapy or chemoradiotherapy may be used in cases that are considered to be "borderline resectable" (see Staging) in order to reduce the cancer to a level where surgery could be beneficial. In other cases neoadjuvant therapy remains controversial, because it delays surgery.[3][4][78]
Gemcitabine was approved by the United States Food and Drug Administration (FDA) in 1997, after a clinical trial reported improvements in quality of life and a 5-week improvement in median survival duration in people with advanced pancreatic cancer.[79] This was the first chemotherapy drug approved by the FDA primarily for a nonsurvival clinical trial endpoint.[80] Chemotherapy using gemcitabine alone was the standard for about a decade, as a number of trials testing it in combination with other drugs failed to demonstrate significantly better outcomes. However, the combination of gemcitabine with erlotinib was found to increase survival modestly, and erlotinib was licensed by the FDA for use in pancreatic cancer in 2005.[81]
The FOLFIRINOX chemotherapy regimen using four drugs was found more effective than gemcitabine, but with substantial side effects, and is thus only suitable for people with good performance status. This is also true of protein-bound paclitaxel (nab-paclitaxel), which was licensed by the FDA in 2013 for use with gemcitabine in pancreas cancer.[82] By the end of 2013, both FOLFIRINOX and nab-paclitaxel with gemcitabine were regarded as good choices for those able to tolerate the side-effects, and gemcitabine remained an effective option for those who were not. A head-to-head trial between the two new options is awaited, and trials investigating other variations continue. However, the changes of the last few years have only increased survival times by a few months.[79] Clinical trials are often conducted for novel adjuvant therapies.[4]
#### Radiotherapy[edit]
The role of radiotherapy as an auxiliary (adjuvant) treatment after potentially curative surgery has been controversial since the 1980s.[3] The European Society for Medical Oncology recommends that adjuvant radiotherapy should only be used for people enrolled in clinical trials.[52] However, there is a continuing tendency for clinicians in the US to be more ready to use adjuvant radiotherapy than those in Europe. Many clinical trials have tested a variety of treatment combinations since the 1980s, but have failed to settle the matter conclusively.[3][4]
Radiotherapy may form part of treatment to attempt to shrink a tumor to a resectable state, but its use on unresectable tumors remains controversial as there are conflicting results from clinical trials. The preliminary results of one trial, presented in 2013, "markedly reduced enthusiasm" for its use on locally advanced tumors.[2]
### PanNETs[edit]
Main articles: Neuroendocrine tumor and Pancreatic neuroendocrine tumor
Treatment of PanNETs, including the less common malignant types, may include a number of approaches.[59][83][84][85] Some small tumors of less than 1 cm. that are identified incidentally, for example on a CT scan performed for other purposes, may be followed by watchful waiting.[59] This depends on the assessed risk of surgery which is influenced by the site of the tumor and the presence of other medical problems.[59] Tumors within the pancreas only (localized tumors), or with limited metastases, for example to the liver, may be removed by surgery. The type of surgery depends on the tumor location, and the degree of spread to lymph nodes.[19]
For localized tumors, the surgical procedure may be much less extensive than the types of surgery used to treat pancreatic adenocarcinoma described above, but otherwise surgical procedures are similar to those for exocrine tumors. The range of possible outcomes varies greatly; some types have a very high survival rate after surgery while others have a poor outlook. As all this group are rare, guidelines emphasize that treatment should be undertaken in a specialized center.[19][26] Use of liver transplantation may be considered in certain cases of liver metastasis.[86]
For functioning tumors, the somatostatin analog class of medications, such as octreotide, can reduce the excessive production of hormones.[19] Lanreotide can slow tumor growth.[87] If the tumor is not amenable to surgical removal and is causing symptoms, targeted therapy with everolimus or sunitinib can reduce symptoms and slow progression of the disease.[26][88][89] Standard cytotoxic chemotherapy is generally not very effective for PanNETs, but may be used when other drug treatments fail to prevent the disease from progressing,[26] or in poorly differentiated PanNET cancers.[90]
Radiation therapy is occasionally used if there is pain due to anatomic extension, such as metastasis to bone. Some PanNETs absorb specific peptides or hormones, and these PanNETs may respond to nuclear medicine therapy with radiolabeled peptides or hormones such as iobenguane (iodine-131-MIBG).[91][92][93][94] Radiofrequency ablation (RFA), cryoablation, and hepatic artery embolization may also be used.[95][96]
### Palliative care[edit]
Palliative care is medical care which focuses on treatment of symptoms from serious illness, such as cancer, and improving quality of life.[97] Because pancreatic adenocarcinoma is usually diagnosed after it has progressed to an advanced stage, palliative care as a treatment of symptoms is often the only treatment possible.[98]
Palliative care focuses not on treating the underlying cancer, but on treating symptoms such as pain or nausea, and can assist in decision-making, including when or if hospice care will be beneficial.[99] Pain can be managed with medications such as opioids or through procedural intervention, by a nerve block on the celiac plexus (CPB). This alters or, depending on the technique used, destroys the nerves that transmit pain from the abdomen. CPB is a safe and effective way to reduce the pain, which generally reduces the need to use opioid painkillers, which have significant negative side effects.[3][100]
Other symptoms or complications that can be treated with palliative surgery are obstruction by the tumor of the intestines or bile ducts. For the latter, which occurs in well over half of cases, a small metal tube called a stent may be inserted by endoscope to keep the ducts draining.[29] Palliative care can also help treat depression that often comes with the diagnosis of pancreatic cancer.[3]
Both surgery and advanced inoperable tumors often lead to digestive system disorders from a lack of the exocrine products of the pancreas (exocrine insufficiency). These can be treated by taking pancreatin which contains manufactured pancreatic enzymes, and is best taken with food.[12] Difficulty in emptying the stomach (delayed gastric emptying) is common and can be a serious problem, involving hospitalization. Treatment may involve a variety of approaches, including draining the stomach by nasogastric aspiration and drugs called proton-pump inhibitors or H2 antagonists, which both reduce production of gastric acid.[12] Medications like metoclopramide can also be used to clear stomach contents.
## Outcomes[edit]
Outcomes in pancreatic cancers according to clinical stage[57] Clinical stage U.S. five-year survival (%)
for 1992–1998 diagnoses
Exocrine pancreatic cancer Neuroendocrine treated with surgery
IA / I 14 61
IB 12
IIA / II 7 52
IIB 5
III 3 41
IV 1 16
Pancreatic adenocarcinoma and the other less common exocrine cancers have a very poor prognosis, as they are normally diagnosed at a late stage when the cancer is already locally advanced or has spread to other parts of the body.[2] Outcomes are much better for PanNETs: Many are benign and completely without clinical symptoms, and even those cases not treatable with surgery have an average five-year survival rate of 16%,[57] although the outlook varies considerably according to the type.[28]
For locally advanced and metastatic pancreatic adenocarcinomas, which together represent over 80% of cases, numerous trials comparing chemotherapy regimes have shown increased survival times, but not to more than one year.[2][79] Overall five-year survival for pancreatic cancer in the US has improved from 2% in cases diagnosed in 1975–1977, and 4% in 1987–1989 diagnoses, to 6% in 2003–2009.[101] In the less than 20% of cases of pancreatic adenocarcinoma with a diagnosis of a localized and small cancerous growth (less than 2 cm in Stage T1), about 20% of Americans survive to five years.[17]
About 1500 genes are linked to outcomes in pancreatic adenocarcinoma. These include both unfavorable genes, where high expression is related to poor outcome, for example C-Met and MUC-1, and favorable genes where high expression is associated with better survival, for example the transcription factor PELP1.[46][47]
## Distribution[edit]
Deaths from pancreatic cancer per million persons in 2012
0–4
5–6
7–9
10–15
16–25
26–33
34–70
71–121
122–162
163–235
In 2015, pancreatic cancers of all types resulted in 411,600 deaths globally.[8] In 2014, an estimated 46,000 people in the US are expected to be diagnosed with pancreatic cancer and 40,000 to die of it.[2] Although it accounts for only 2.5% of new cases, pancreatic cancer is responsible for 6% of cancer deaths each year.[102] It is the seventh highest cause of death from cancer worldwide.[10] Pancreatic cancer is the fifth most common cause of death from cancer in the United Kingdom,[15] and the third most common in the United States.[16]
Globally pancreatic cancer is the 11th most common cancer in women and the 12th most common in men.[10] The majority of recorded cases occur in developed countries.[10] People from the United States have an average lifetime risk of about 1 in 67 (or 1.5%) of developing the disease,[103] slightly higher than the figure for the UK.[104] The disease is more common in men than women,[2][10] though the difference in rates has narrowed over recent decades, probably reflecting earlier increases in female smoking. In the United States the risk for African Americans is over 50% greater than for whites, but the rates in Africa and East Asia are much lower than those in North America or Europe. The United States, Central, and eastern Europe, and Argentina and Uruguay all have high rates.[10]
### PanNETs[edit]
The annual incidence of clinically recognized PanNETs is low (about 5 per one million person-years) and is dominated by the non-functioning types.[23] Somewhere between 45% and 90% of PanNETs are thought to be of the non-functioning types.[19][26] Studies of autopsies have uncovered small PanNETs rather frequently, suggesting that the prevalence of tumors that remain inert and asymptomatic may be relatively high.[26] Overall PanNETs are thought to account for about 1 to 2% of all pancreatic tumors.[23] The definition and classification of PanNETs has changed over time, affecting what is known about their epidemiology and clinical relevance.[48]
## History[edit]
See also: Timeline of pancreatic cancer
### Recognition and diagnosis[edit]
The earliest recognition of pancreatic cancer has been attributed to the 18th-century Italian scientist Giovanni Battista Morgagni, the historical father of modern-day anatomic pathology, who claimed to have traced several cases of cancer in the pancreas. Many 18th and 19th-century physicians were skeptical about the existence of the disease, given the similar appearance of pancreatitis. Some case reports were published in the 1820s and 1830s, and a genuine histopathologic diagnosis was eventually recorded by the American clinician Jacob Mendes Da Costa, who also doubted the reliability of Morgagni's interpretations. By the start of the 20th century, cancer of the head of the pancreas had become a well-established diagnosis.[105]
Regarding the recognition of PanNETs, the possibility of cancer of the islet cells was initially suggested in 1888. The first case of hyperinsulinism due to a tumor of this type was reported in 1927. Recognition of a non-insulin-secreting type of PanNET is generally ascribed to the American surgeons, R. M. Zollinger and E. H. Ellison, who gave their names to Zollinger–Ellison syndrome, after postulating the existence of a gastrin-secreting pancreatic tumor in a report of two cases of unusually severe peptic ulcers published in 1955.[105] In 2010, the WHO recommended that PanNETs be referred to as "neuroendocrine" rather than "endocrine" tumors.[25]
Small precancerous neoplasms for many pancreatic cancers are being detected at greatly increased rates by modern medical imaging. One type, the intraductal papillary mucinous neoplasm (IPMN) was first described by Japanese researchers in 1982. It was noted in 2010 that: "For the next decade, little attention was paid to this report; however, over the subsequent 15 years, there has been a virtual explosion in the recognition of this tumor."[58]
### Surgery[edit]
The first reported partial pancreaticoduodenectomy was performed by the Italian surgeon Alessandro Codivilla in 1898, but the patient only survived 18 days before succumbing to complications. Early operations were compromised partly because of mistaken beliefs that people would die if their duodenum were removed, and also, at first, if the flow of pancreatic juices stopped. Later it was thought, also mistakenly, that the pancreatic duct could simply be tied up without serious adverse effects; in fact, it will very often leak later on. In 1907–1908, after some more unsuccessful operations by other surgeons, experimental procedures were tried on corpses by French surgeons.[106]
In 1912 the German surgeon Walther Kausch was the first to remove large parts of the duodenum and pancreas together (en bloc). This was in Breslau, now Wrocław in Poland. In 1918 it was demonstrated, in operations on dogs, that it is possible to survive even after complete removal of the duodenum, but no such result was reported in human surgery until 1935, when the American surgeon Allen Oldfather Whipple published the results of a series of three operations at Columbia Presbyterian Hospital in New York. Only one of the patients had the duodenum entirely removed, but he survived for two years before dying of metastasis to the liver.
The first operation was unplanned, as cancer was only discovered in the operating theater. Whipple's success showed the way for the future, but the operation remained a difficult and dangerous one until recent decades. He published several refinements to his procedure, including the first total removal of the duodenum in 1940, but he only performed a total of 37 operations.[106]
The discovery in the late 1930s that vitamin K prevented bleeding with jaundice, and the development of blood transfusion as an everyday process, both improved post-operative survival,[106] but about 25% of people never left hospital alive as late as the 1970s.[107] In the 1970s a group of American surgeons wrote urging that the procedure was too dangerous and should be abandoned. Since then outcomes in larger centers have improved considerably, and mortality from the operation is often less than 4%.[21]
In 2006 a report was published of a series of 1,000 consecutive pancreatico-duodenectomies performed by a single surgeon from Johns Hopkins Hospital between 1969 and 2003. The rate of these operations had increased steadily over this period, with only three of them before 1980, and the median operating time reduced from 8.8 hours in the 1970s to 5.5 hours in the 2000s, and mortality within 30 days or in hospital was only 1%.[106][107] Another series of 2,050 operations at the Massachusetts General Hospital between 1941 and 2011 showed a similar picture of improvement.[108]
## Research directions[edit]
Early-stage research on pancreatic cancer includes studies of genetics and early detection, treatment at different cancer stages, surgical strategies, and targeted therapies, such as inhibition of growth factors, immune therapies, and vaccines.[39][109][110][111][112]
A key question is the timing of events as the disease develops and progresses – particularly the role of diabetes,[109][31] and how and when the disease spreads.[113] The knowledge that new onset of diabetes can be an early sign of the disease could facilitate timely diagnosis and prevention if a workable screening strategy can be developed.[109][31][114][115] The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) trial is aiming to determine whether regular screening is appropriate for people with a family history of the disease.[116]
Keyhole surgery (laparoscopy) rather than Whipple's procedure, particularly in terms of recovery time, is being evaluated.[117] Irreversible electroporation is a relatively novel ablation technique with potential for downstaging and prolonging survival in persons with locally advanced disease, especially for tumors in proximity to peri-pancreatic vessels without risk of vascular trauma.[118][119]
Efforts are underway to develop new drugs, including those targeting molecular mechanisms for cancer onset,[120][121] stem cells,[76] and cell proliferation.[121][122] A further approach involves the use of immunotherapy, such as oncolytic viruses.[123] Galectin-specific mechanisms of the tumor microenvironment are under study.[124]
## See also[edit]
* Gastrointestinal cancer
* Pancreatic Cancer Action Network (organization in the US)
* Pancreatic Cancer Action (organization in the UK)
* Lustgarten Foundation for Pancreatic Cancer Research (organization in the US)
* List of people diagnosed with pancreatic cancer
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74. ^ Tsvetkova EV, Asmis TR (August 2014). "Role of neoadjuvant therapy in the management of pancreatic cancer: is the era of biomarker-directed therapy here?". Current Oncology. 21 (4): e650–7. doi:10.3747/co.21.2006. PMC 4117630. PMID 25089113.
75. ^ Zhan HX, Xu JW, Wu D, Zhang TP, Hu SY (February 2015). "Pancreatic cancer stem cells: new insight into a stubborn disease". Cancer Letters. 357 (2): 429–37. doi:10.1016/j.canlet.2014.12.004. PMID 25499079.
76. ^ a b Tanase CP, Neagu AI, Necula LG, Mambet C, Enciu AM, Calenic B, et al. (August 2014). "Cancer stem cells: involvement in pancreatic cancer pathogenesis and perspectives on cancer therapeutics". World Journal of Gastroenterology. 20 (31): 10790–801. doi:10.3748/wjg.v20.i31.10790. PMC 4138459. PMID 25152582.
77. ^ Allen VB, Gurusamy KS, Takwoingi Y, Kalia A, Davidson BR (July 2016). "Diagnostic accuracy of laparoscopy following computed tomography (CT) scanning for assessing the resectability with curative intent in pancreatic and periampullary cancer". The Cochrane Database of Systematic Reviews. 7: CD009323. doi:10.1002/14651858.CD009323.pub3. PMC 6458011. PMID 27383694.
78. ^ Heinemann V, Haas M, Boeck S (October 2013). "Neoadjuvant treatment of borderline resectable and non-resectable pancreatic cancer". Annals of Oncology. 24 (10): 2484–92. doi:10.1093/annonc/mdt239. PMID 23852311.
79. ^ a b c Thota R, Pauff JM, Berlin JD (January 2014). "Treatment of metastatic pancreatic adenocarcinoma: a review". Oncology. 28 (1): 70–74. PMID 24683721.
80. ^ Ryan DP (8 July 2014). "Chemotherapy for advanced exocrine pancreatic cancer: Topic 2475, Version 46.0" (subscription required). UpToDate. Wolters Kluwer Health. Archived from the original on 8 December 2014. Retrieved 18 November 2014.
81. ^ "Cancer Drug Information: FDA Approval for Erlotinib Hydrochloride". National Cancer Institute. National Institutes of Health. 3 July 2013. Archived from the original on 29 November 2014. Retrieved 5 December 2014.
82. ^ Borazanci E, Von Hoff DD (September 2014). "Nab-paclitaxel and gemcitabine for the treatment of patients with metastatic pancreatic cancer". Expert Review of Gastroenterology & Hepatology. 8 (7): 739–47. doi:10.1586/17474124.2014.925799. PMID 24882381. S2CID 31633898.
83. ^ Falconi M, Bartsch DK, Eriksson B, Klöppel G, Lopes JM, O'Connor JM, et al. (2012). "ENETS Consensus Guidelines for the management of patients with digestive neuroendocrine neoplasms of the digestive system: well-differentiated pancreatic non-functioning tumors". Neuroendocrinology. 95 (2): 120–34. doi:10.1159/000335587. PMID 22261872. S2CID 6985904.
84. ^ Jensen RT, Cadiot G, Brandi ML, de Herder WW, Kaltsas G, Komminoth P, et al. (2012). "ENETS Consensus Guidelines for the management of patients with digestive neuroendocrine neoplasms: functional pancreatic endocrine tumor syndromes". Neuroendocrinology. 95 (2): 98–119. doi:10.1159/000335591. PMC 3701449. PMID 22261919.
85. ^ Pavel M, Baudin E, Couvelard A, Krenning E, Öberg K, Steinmüller T, et al. (2012). "ENETS Consensus Guidelines for the management of patients with liver and other distant metastases from neuroendocrine neoplasms of foregut, midgut, hindgut, and unknown primary". Neuroendocrinology. 95 (2): 157–76. doi:10.1159/000335597. PMID 22262022. S2CID 2097604.
86. ^ Rossi RE, Massironi S, Conte D, Peracchi M (January 2014). "Therapy for metastatic pancreatic neuroendocrine tumors". Annals of Translational Medicine. 2 (1): 8. doi:10.3978/j.issn.2305-5839.2013.03.01. PMC 4200651. PMID 25332984.
87. ^ Nick Mulcahy (17 December 2014). "FDA Approves Lanreotide for Neuroendocrine Tumors". Medscape Medical News. WebMD LLC. Archived from the original on 18 January 2015. Retrieved 25 December 2014.
88. ^ Everolimus Approved for Pancreatic Neuroendocrine Tumors Archived 16 July 2016 at the Wayback Machine The ASCO Post. 15 May 2011, Volume 2, Issue 8
89. ^ National Cancer Institute. Cancer Drug Information. FDA Approval for Sunitinib Malate Archived 5 January 2015 at the Wayback Machine. Pancreatic Neuroendocrine Tumors
90. ^ Text is available electronically (but may require free registration) See: Benson AB, Myerson RJ, Sasson AR (2010). Pancreatic, neuroendocrine GI, and adrenal cancers. Cancer Management: A Multidisciplinary Approach (13th ed.). ISBN 978-0-615-41824-7. Archived from the original on 15 May 2011.
91. ^ Gulenchyn KY, Yao X, Asa SL, Singh S, Law C (May 2012). "Radionuclide therapy in neuroendocrine tumours: a systematic review". Clinical Oncology. 24 (4): 294–308. doi:10.1016/j.clon.2011.12.003. PMID 22221516.
92. ^ Vinik AI (November 2014). "Advances in diagnosis and treatment of pancreatic neuroendocrine tumors". Endocrine Practice. 20 (11): 1222–30. doi:10.4158/EP14373.RA. PMID 25297671.
93. ^ Kwekkeboom DJ, de Herder WW, van Eijck CH, Kam BL, van Essen M, Teunissen JJ, Krenning EP (March 2010). "Peptide receptor radionuclide therapy in patients with gastroenteropancreatic neuroendocrine tumors". Seminars in Nuclear Medicine. 40 (2): 78–88. doi:10.1053/j.semnuclmed.2009.10.004. PMID 20113677.
94. ^ Bodei L, Cremonesi M, Kidd M, Grana CM, Severi S, Modlin IM, Paganelli G (August 2014). "Peptide receptor radionuclide therapy for advanced neuroendocrine tumors". Thoracic Surgery Clinics. 24 (3): 333–49. doi:10.1016/j.thorsurg.2014.04.005. hdl:11392/2378236. PMID 25065935.
95. ^ Castellano D, Grande E, Valle J, Capdevila J, Reidy-Lagunes D, O'Connor JM, Raymond E (June 2015). "Expert consensus for the management of advanced or metastatic pancreatic neuroendocrine and carcinoid tumors". Cancer Chemotherapy and Pharmacology. 75 (6): 1099–114. doi:10.1007/s00280-014-2642-2. PMID 25480314. S2CID 39434924.
96. ^ Singh S, Dey C, Kennecke H, Kocha W, Maroun J, Metrakos P, et al. (August 2015). "Consensus Recommendations for the Diagnosis and Management of Pancreatic Neuroendocrine Tumors: Guidelines from a Canadian National Expert Group". Annals of Surgical Oncology. 22 (8): 2685–99. doi:10.1245/s10434-014-4145-0. PMID 25366583. S2CID 8129133.
97. ^ "Palliative or Supportive Care". American Cancer Society. 2014. Archived from the original on 21 August 2014. Retrieved 20 August 2014.
98. ^ Buanes TA (August 2014). "Pancreatic cancer-improved care achievable". World Journal of Gastroenterology. 20 (30): 10405–18. doi:10.3748/wjg.v20.i30.10405. PMC 4130847. PMID 25132756.
99. ^ "If treatment for pancreatic cancer stops working". American Cancer Society. 11 June 2014. Archived from the original on 22 October 2014. Retrieved 20 August 2014.
100. ^ Arcidiacono PG, Calori G, Carrara S, McNicol ED, Testoni PA (March 2011). Arcidiacono PG (ed.). "Celiac plexus block for pancreatic cancer pain in adults". The Cochrane Database of Systematic Reviews (3): CD007519. doi:10.1002/14651858.CD007519.pub2. PMC 6464722. PMID 21412903.
101. ^ "Cancer Facts and Figures 2014" (PDF). American Cancer Society. Archived (PDF) from the original on 18 December 2014. Retrieved 5 January 2015., Table, p. 18, rates adjusted for normal life expectancy
102. ^ Jemal A, Siegel R, Ward E, Murray T, Xu J, Thun MJ (2007). "Cancer statistics, 2007". Ca. 57 (1): 43–66. doi:10.3322/canjclin.57.1.43. PMID 17237035. S2CID 22305510.
103. ^ "What are the key statistics about pancreatic cancer?". American Cancer Society. 11 June 2014. Archived from the original on 11 November 2014. Retrieved 11 November 2014.
104. ^ "Pancreatic cancer statistics". Cancer Research UK. Archived from the original on 18 December 2014. Retrieved 18 December 2014.; "In 2010, in the UK, the lifetime risk of developing pancreatic cancer is 1 in 73 for men and 1 in 74 for women", noting "The lifetime risk ... has been calculated ... using the 'Current Probability' method; this is a different method used from most other cancer sites since the possibility of having more than one diagnosis of pancreatic cancer over the course of their lifetime is very low"
105. ^ a b Busnardo AC, DiDio LJ, Tidrick RT, Thomford NR (November 1983). "History of the pancreas". American Journal of Surgery. 146 (5): 539–50. doi:10.1016/0002-9610(83)90286-6. PMID 6356946.
106. ^ a b c d Are C, Dhir M, Ravipati L (June 2011). "History of pancreaticoduodenectomy: early misconceptions, initial milestones and the pioneers". HPB. 13 (6): 377–84. doi:10.1111/j.1477-2574.2011.00305.x. PMC 3103093. PMID 21609369.
107. ^ a b Cameron JL, Riall TS, Coleman J, Belcher KA (July 2006). "One thousand consecutive pancreaticoduodenectomies". Annals of Surgery. 244 (1): 10–5. doi:10.1097/01.sla.0000217673.04165.ea. PMC 1570590. PMID 16794383.
108. ^ Fernández-del Castillo C, Morales-Oyarvide V, McGrath D, Wargo JA, Ferrone CR, Thayer SP, et al. (September 2012). "Evolution of the Whipple procedure at the Massachusetts General Hospital". Surgery. 152 (3 Suppl 1): S56-63. doi:10.1016/j.surg.2012.05.022. PMC 3806095. PMID 22770961.
109. ^ a b c "What's new in pancreatic cancer research and treatment?". American Cancer Society. 2019. Retrieved 2 May 2019.
110. ^ "Pancreatic cancer research". Cancer Research UK. Archived from the original on 18 February 2014. Retrieved 17 July 2014.
111. ^ "Australian Pancreatic Genome Initiative". Garvan Institute. Archived from the original on 26 July 2014. Retrieved 17 July 2014.
112. ^ Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, et al. (November 2012). "Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes". Nature. 491 (7424): 399–405. Bibcode:2012Natur.491..399.. doi:10.1038/nature11547. PMC 3530898. PMID 23103869.
113. ^ Graham JS, Jamieson NB, Rulach R, Grimmond SM, Chang DK, Biankin AV (September 2015). "Pancreatic cancer genomics: where can the science take us?". Clinical Genetics. 88 (3): 213–9. doi:10.1111/cge.12536. PMID 25388820. S2CID 26414866.
114. ^ Zhang C, Yang G, Ling Y, Chen G, Zhou T (December 2014). "The early diagnosis of pancreatic cancer and diabetes: what's the relationship?". Journal of Gastrointestinal Oncology. 5 (6): 481–8. doi:10.3978/j.issn.2078-6891.2014.055. PMC 4226830. PMID 25436129.
115. ^ Bruenderman EH, Martin RC (March 2015). "High-risk population in sporadic pancreatic adenocarcinoma: guidelines for screening". The Journal of Surgical Research. 194 (1): 212–9. doi:10.1016/j.jss.2014.06.046. PMC 4559279. PMID 25479908.
116. ^ "About EUROPAC". European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC). University of Liverpool. Archived from the original on 26 July 2014. Retrieved 17 July 2014.
117. ^ Subar D, Gobardhan PD, Gayet B (February 2014). "Laparoscopic pancreatic surgery: An overview of the literature and experiences of a single center". Best Practice & Research. Clinical Gastroenterology. 28 (1): 123–32. doi:10.1016/j.bpg.2013.11.011. PMID 24485260.
118. ^ Weiss MJ, Wolfgang CL (2013). "Irreversible electroporation: a novel pancreatic cancer therapy". Current Problems in Cancer. 37 (5): 262–5. doi:10.1016/j.currproblcancer.2013.10.002. PMID 24331180.
119. ^ Moir J, White SA, French JJ, Littler P, Manas DM (December 2014). "Systematic review of irreversible electroporation in the treatment of advanced pancreatic cancer". European Journal of Surgical Oncology. 40 (12): 1598–604. doi:10.1016/j.ejso.2014.08.480. PMID 25307210.
120. ^ Kleger A, Perkhofer L, Seufferlein T (July 2014). "Smarter drugs emerging in pancreatic cancer therapy". Annals of Oncology. 25 (7): 1260–1270. doi:10.1093/annonc/mdu013. PMID 24631947.
121. ^ a b Tang SC, Chen YC (August 2014). "Novel therapeutic targets for pancreatic cancer". World Journal of Gastroenterology. 20 (31): 10825–44. doi:10.3748/wjg.v20.i31.10825. PMC 4138462. PMID 25152585.
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## External links[edit]
Classification
D
* ICD-10: C25
* ICD-9-CM: 157
* OMIM: 260350
* MeSH: D010190
* DiseasesDB: 9510
External resources
* MedlinePlus: 000236
* eMedicine: med/1712
Wikimedia Commons has media related to Pancreatic cancer.
* Pancreatic cancer at Curlie
* v
* t
* e
Digestive system neoplasia
GI tract
Upper
Esophagus
* Squamous cell carcinoma
* Adenocarcinoma
Stomach
* Gastric carcinoma
* Signet ring cell carcinoma
* Gastric lymphoma
* MALT lymphoma
* Linitis plastica
Lower
Small intestine
* Duodenal cancer
* Adenocarcinoma
Appendix
* Carcinoid
* Pseudomyxoma peritonei
Colon/rectum
* Colorectal polyp: adenoma, hyperplastic, juvenile, sessile serrated adenoma, traditional serrated adenoma, Peutz–Jeghers
Cronkhite–Canada
* Polyposis syndromes: Juvenile
* MUTYH-associated
* Familial adenomatous/Gardner's
* Polymerase proofreading-associated
* Serrated polyposis
* Neoplasm: Adenocarcinoma
* Familial adenomatous polyposis
* Hereditary nonpolyposis colorectal cancer
Anus
* Squamous cell carcinoma
Upper and/or lower
* Gastrointestinal stromal tumor
* Krukenberg tumor (metastatic)
Accessory
Liver
* malignant: Hepatocellular carcinoma
* Fibrolamellar
* Hepatoblastoma
* benign: Hepatocellular adenoma
* Cavernous hemangioma
* hyperplasia: Focal nodular hyperplasia
* Nodular regenerative hyperplasia
Biliary tract
* bile duct: Cholangiocarcinoma
* Klatskin tumor
* gallbladder: Gallbladder cancer
Pancreas
* exocrine pancreas: Adenocarcinoma
* Pancreatic ductal carcinoma
* cystic neoplasms: Serous microcystic adenoma
* Intraductal papillary mucinous neoplasm
* Mucinous cystic neoplasm
* Solid pseudopapillary neoplasm
* Pancreatoblastoma
Peritoneum
* Primary peritoneal carcinoma
* Peritoneal mesothelioma
* Desmoplastic small round cell tumor
* v
* t
* e
Tumours of endocrine glands
Pancreas
* Pancreatic cancer
* Pancreatic neuroendocrine tumor
* α: Glucagonoma
* β: Insulinoma
* δ: Somatostatinoma
* G: Gastrinoma
* VIPoma
Pituitary
* Pituitary adenoma: Prolactinoma
* ACTH-secreting pituitary adenoma
* GH-secreting pituitary adenoma
* Craniopharyngioma
* Pituicytoma
Thyroid
* Thyroid cancer (malignant): epithelial-cell carcinoma
* Papillary
* Follicular/Hurthle cell
* Parafollicular cell
* Medullary
* Anaplastic
* Lymphoma
* Squamous-cell carcinoma
* Benign
* Thyroid adenoma
* Struma ovarii
Adrenal tumor
* Cortex
* Adrenocortical adenoma
* Adrenocortical carcinoma
* Medulla
* Pheochromocytoma
* Neuroblastoma
* Paraganglioma
Parathyroid
* Parathyroid neoplasm
* Adenoma
* Carcinoma
Pineal gland
* Pinealoma
* Pinealoblastoma
* Pineocytoma
MEN
* 1
* 2A
* 2B
Authority control
* GND: 4004728-3
* LCCN: sh2010009939
* NDL: 00571649
* NKC: ph323359
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pancreatic cancer
|
c0346647
| 25,244 |
wikipedia
|
https://en.wikipedia.org/wiki/Pancreatic_cancer
| 2021-01-18T18:32:45 |
{"gard": ["9364"], "mesh": ["D010190"], "umls": ["C1842408", "C0153460", "C0153458", "C0030297", "C0346647", "C0153463", "C0153459"], "orphanet": ["1333", "217074"], "wikidata": ["Q212961"]}
|
Histidinemia is an inherited metabolic condition characterized by elevated levels of the amino acid histidine in blood, urine, and cerebrospinal fluid. In most cases, people with this condition have no health problems and may not even know that they are affected. Individuals with histidinemia who also experience a medical complication during or shortly after birth (such as a temporary lack of oxygen), may be at an increased risk of developing intellectual disability, behavioral problems, or learning disabilities.
Histidinemia is caused by changes (mutations) in the HAL gene. This gene provides instructions for making an enzyme called histidase, which breaks down histidine into a molecule called urocanic acid. If histidase doesn't do its job properly, histidine levels become elevated. Histidinemia is inherited in an autosomal recessive pattern. Because there are no symptoms associated with this condition, treatment is not necessary.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Histidinemia
|
c0220992
| 25,245 |
gard
|
https://rarediseases.info.nih.gov/diseases/6661/histidinemia
| 2021-01-18T17:59:59 |
{"mesh": ["C538320"], "omim": ["235800"], "umls": ["C0220992"], "orphanet": ["2157"], "synonyms": ["Histidase deficiency", "HIS deficiency", "HAL deficiency", "Histidine ammonia-lyase deficiency"]}
|
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
To identify genetic variants influencing adult human height, Weedon et al. (2008) used genomewide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. They found the strongest association with an intronic SNP of the ZBTB38 gene (612218), rs6440003 (combined P = 1.8 x 10(-24)). The ZBTB38 gene encodes a transcription factor and maps to chromosome 3q23. Overall, Weedon et al. (2008) identified 20 variants associated with adult height (P less than 5 x 10(-7), with 10 reaching P less than 1 x 10(-10)). The 20 SNPs together explain approximately 3% of height variation, with an approximately 5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. Each of the robustly associated variants altered height by between approximately 0.2 and 0.6 centimeters per allele.
Lettre et al. (2008) carried out a metaanalysis of genomewide association study data of height for 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in greater than 10,000 subjects. Ten newly identified and 2 previously reported loci were strongly associated with variation in height (P values from 4 x 10(-7) to 8 x 10(-22)). Lettre et al. (2008) found the strongest association with an intronic SNP in the ZBTB38 gene, rs724016 (combined P = 8.3 x 10(-22)). Together, the 12 loci identified by them account for approximately 2% of the population variation in height. Individuals with 8 or fewer height-increasing alleles and 16 or more height-increasing alleles differed in height by approximately 3.5 cm. The combined effect size of the rs724016 G allele was 0.365 cm.
Gudbjartsson et al. (2008) searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans, and 1,148 African Americans. The authors then combined their data with previously published results from the Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research (2007) on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. Gudbjartsson et al. (2008) identified 27 regions of the genome with 1 or more sequence variants showing significant association with height. The SNP rs6763931 in the ZBTB38 gene achieved the strongest association (P = 1.4 x 10(-27)). This SNP also had the most significant correlation with expression of ZBTB38 in blood and adipose tissue.
Soranzo et al. (2009) performed a genomewide scan in 12,611 participants followed by replication in an additional 7,187 individuals. All participants were of British or Dutch descent. They identified SNP rs6763931 as having strong association with stature as a quantitative trait (combined P = 3.1 x 10(-12)).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
STATURE QUANTITATIVE TRAIT LOCUS 10
|
c2677152
| 25,246 |
omim
|
https://www.omim.org/entry/612221
| 2019-09-22T16:02:12 |
{"omim": ["612221"]}
|
Lethal congenital contracture syndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, partially or completely restricting the movement of the affected joint. The condition has only being described in few people. Symptoms include flexion and extension contractures of the upper and lower limbs, very small lungs (pulmonary hypoplasia), a small and recessed lower jaw (retrognathia), bent toes and fingers (camptodactyly), and bilateral clubfoot. The disease is very severe and most affected infants die soon after birth due to respiratory complications. Ultrasound examination done during the prenatal period may show a fetus that does not move.
Lethal congenital contracture arthrogryposis 11 is caused by mutations in the GLDN gene. Inheritance is autosomal recessive. Treatment is supportive and may include tracheostomy due to the respiratory problems and a feeding tube for nutrition.
Lethal congenital contracture syndrome 11 is a subtype of the lethal congenital contracture syndromes, which are classified under the arthrogryposis syndromes. The term arthrogryposis is used to describe multiple congenital contractures that affect two or more different areas of the body.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lethal congenital contracture syndrome 11
|
c4310670
| 25,247 |
gard
|
https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11
| 2021-01-18T17:59:27 |
{"omim": ["617194"], "synonyms": ["Lethal congenital contracture arthrogryposis-11", "LCCS11"]}
|
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 recessive infantile hypercalcemia
|
c0268080
| 25,248 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300547
| 2021-01-23T18:52:10 |
{"mesh": ["C562581"], "omim": ["143880", "616963"], "icd-10": ["E83.5"], "synonyms": ["Familial infantile hypercalcemia with suppressed intact parathyroid hormone"]}
|
Butcher's wart
SpecialtyDermatology
Butcher's wart is a cutaneous (skin) condition with a prevalence of 8.5% to 23.8% among butchers and other meat-handling professions[1] caused by a small group of viruses that infect the skin.[2]
An association with Human Papillomavirus 7 has been suggested.[3][4][5]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ De Peuter M, De Clercq B, Minette A, Lachapelle JM (1977). "An epidemiological survey of virus warts of the hands among butchers". Br J Dermatol. 96 (4): 427–31. doi:10.1159/000278232. PMID 861180.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ de Villiers EM, Neumann C, Oltersdorf T, Fierlbeck G, zur Hausen H (August 1986). "Butcher's wart virus (HPV 7) infections in non-butchers". J. Invest. Dermatol. 87 (2): 236–8. doi:10.1111/1523-1747.ep12696619. PMID 3016103.
4. ^ Majewski S, Jablonska S, Favre M, Orth G (December 2001). "Human papillomavirus type 7 and butcher's warts". Arch Dermatol. 137 (12): 1655–6. PMID 11735725.[permanent dead link]
5. ^ Porro AM, Alchorne MM, Mota GR, Michalany N, Pignatari AC, Souza IE (December 2003). "Detection and typing of human papillomavirus in cutaneous warts of patients infected with human immunodeficiency virus type 1". Br. J. Dermatol. 149 (6): 1192–9. doi:10.1111/j.1365-2133.2003.05650.x. PMID 14674896.
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
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
|
Butcher's wart
|
c0343648
| 25,249 |
wikipedia
|
https://en.wikipedia.org/wiki/Butcher%27s_wart
| 2021-01-18T18:28:06 |
{"umls": ["C0343648"], "wikidata": ["Q5002444"]}
|
A number sign (#) is used with this entry because of evidence that global developmental delay with or without impaired intellectual development (GDDI) is caused by heterozygous mutation in the CUX1 gene (116896) on chromosome 7q22.
Clinical Features
Platzer et al. (2018) reported 9 individuals, including a mother and 2 children, from 7 families with global developmental delay. All 9 had speech delay and 7 had motor delay. Clinical information provided for 8 individuals showed that 2 had moderate intellectual disability (ID) at ages 3 years and 5 years, and 3 had mild ID at ages 12 years, 12 years, and 32 years. Three had intelligence at normal ranges at ages 4, 6, and 8 years, with IQ testing available for 2 (IQ values of 82 and 95). No individuals showed signs of regression. Average age of unassisted walking was around 24 months, with a range of 16 to 42 months. Hypotonia was present in 3 individuals, with 1 using a wheelchair for distances over 100 meters at age 4 years. Two individuals had borderline short stature. Two individuals had patent ductus arteriosus and 2 had hypospadias. Four individuals had brain MRI, which showed no major abnormalities or malformations.
Molecular Genetics
Using trio exome sequencing and array CNV analysis, Platzer et al. (2018) identified heterozygous mutations in the CUX1 gene (see, e.g., 116896.0001-116896.0006) in individuals with GDDI. The mutations included nonsense and frameshift mutations and large intragenic deletions. Six mutations were confirmed to be de novo; the other mutation was found in a mother and her 2 sons.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Short stature (in some patients) NEUROLOGIC Central Nervous System \- Global developmental delay \- Intellectual disability, mild to moderate (in some patients) \- Hypotonia (in some patients) MISCELLANEOUS \- De novo mutation (in some patients) \- Two sibs who inherited CUX1 mutation from mildly affected mother have been described (last curated February 2019) MOLECULAR BASIS \- Caused by mutation in the cut-like homeobox 1 gene (CUX1, 116896.0001 ) ▲ 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
|
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
|
None
| 25,250 |
omim
|
https://www.omim.org/entry/618330
| 2019-09-22T15:42:28 |
{"omim": ["618330"], "orphanet": ["178469"], "synonyms": []}
|
A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
ALK-positive large B-cell lymphoma
|
c1333294
| 25,251 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364043
| 2021-01-23T17:56:01 |
{"icd-10": ["C83.3"], "synonyms": ["ALK+ LBCL", "ALK+ large B-cell lymphoma"]}
|
Periosteal reaction
Periosteal reaction on a healing supracondylar fracture
SpecialtyOrthopedics
A periosteal reaction is the formation of new bone in response to injury or other stimuli of the periosteum surrounding the bone.[1] It is most often identified on X-ray films of the bones.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Cause[edit]
Examples of periosteal reactive bone in selected specimens of Triceratops
A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. It may also occur as part of thyroid acropachy, a severe sign of the autoimmune thyroid disorder Graves' disease.
Other causes include Menkes kinky hair syndrome and hypervitaminosis A.[2]
It can take about three weeks to appear.[3]
## Diagnosis[edit]
The morphological appearance can be helpful in determining the cause of a periosteal reaction (for example, if other features of periostitis are present), but is usually not enough to be definitive. Diagnosis can be helped by establishing if bone formation is localized to a specific point or generalized to a broad area. The appearance of the adjacent bone will give clues as to which of these is the most likely cause.
Appearances include solid, laminated, spiculated, and the Codman triangle.[4]
## See also[edit]
* Hypertrophic pulmonary osteoarthropathy
## References[edit]
1. ^ Ved N, Haller JO (November 2002). "Periosteal reaction with normal-appearing underlying bone: a child abuse mimicker". Emerg Radiol. 9 (5): 278–82. doi:10.1007/s10140-002-0252-5. PMID 15290554.
2. ^ Wood W. Lovell; Robert B. Winter; Raymond T. Morrissy; Stuart L. Weinstein (2006). Lovell and Winter's pediatric orthopaedics. Lippincott Williams & Wilkins. pp. 196–. ISBN 978-0-7817-5358-6. Retrieved 15 April 2010.
3. ^ Francis A. Burgener; Martti Kormano; Tomi Pudas (23 November 2005). Bone and Joint Disorders. Thieme. pp. 41–. ISBN 978-1-58890-445-4. Retrieved 15 April 2010.
4. ^ Richard H. Daffner (1 February 2007). Clinical radiology: the essentials. Lippincott Williams & Wilkins. pp. 405–. ISBN 978-0-7817-9968-3. Retrieved 15 April 2010.
## External links[edit]
Classification
D
* DiseasesDB: 31520
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner disease
* v
* t
* e
Physiology of bone and cartilage
Bone
* Bone density
* Bone remodeling
* Bone healing
* Bone resorption
* Osseointegration
* Ossification
* Osteolysis
* Bone age
* Periosteal reaction
Cartilage
* Chondrogenesis
Joint
* Range of motion
Teeth
* Chewing
* Cementogenesis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Periosteal reaction
|
c2674853
| 25,252 |
wikipedia
|
https://en.wikipedia.org/wiki/Periosteal_reaction
| 2021-01-18T18:50:24 |
{"wikidata": ["Q7168683"]}
|
An autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
Oliver–McFarlane syndrome
Other namesTrichomegaly-retina pigmentary degeneration-dwarfism syndrome
Oliver–McFarlane syndrome is a condition characterized by hypertrichosis of the eyebrows and eyelashes.[1]
## See also[edit]
* Ollier disease
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* OMIM: 275400
* MeSH: C536554
External resources
* Orphanet: 3363
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
|
Oliver–McFarlane syndrome
|
c1848745
| 25,253 |
wikipedia
|
https://en.wikipedia.org/wiki/Oliver%E2%80%93McFarlane_syndrome
| 2021-01-18T18:53:54 |
{"gard": ["5266"], "mesh": ["C536554"], "umls": ["C1848745"], "orphanet": ["3363"], "wikidata": ["Q7087988"]}
|
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures).
## Frequency
COG5-CDG is a very rare disorder; fewer than 10 cases have been described in the medical literature.
## Causes
COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions.
The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.
### Learn more about the gene associated with COG5-congenital disorder of glycosylation
* COG5
## 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
|
COG5-congenital disorder of glycosylation
|
c3150876
| 25,254 |
medlineplus
|
https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/
| 2021-01-27T08:25:10 |
{"gard": ["12348"], "omim": ["613612"], "synonyms": []}
|
For a general phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.
Clinical Features
A clinical subtype of schizophrenia, termed periodic catatonia, is characterized by derangements of facial expression and gestures, so-called psychomotor disturbances (Leonhard, 1999). Catatonia can exhibit 2 psychotic poles: psychomotor excitement and inhibition. Features include grimacing or mask-like facies, iterations, and posture stereotypes, distorted stiff movements, or parakinesis, and akinetic negativism. Acute psychotic episodes may be accompanied by hallucinations and delusions, but, in remission, there remains a distinct mild to severe catatonic residual state with psychomotor weakness of facial expression and diminished incentive.
Inheritance
Stober et al. (1995) and Beckmann et al. (1996) predicted a major gene effect in periodic catatonia because of a morbidity risk of 26.9% in first-degree relatives.
Mapping
In a genomewide linkage study, Stober et al. (2000) found evidence for a major susceptibility locus on chromosome 15q15 in most of the pedigrees analyzed (maximum nonparametric lod score of 3.57), and a further potential locus on 22q13 (see 600850), pointing to genetic heterogeneity in periodic catatonia.
Stober et al. (2002) performed a genome scan in 4 multiplex families with periodic catatonia and confirmed mapping of a major gene locus on 15q15. Analysis of individual families revealed that 1 large family showed linkage, whereas 2 others could be clearly excluded, which confirmed genetic heterogeneity. Haplotype analysis of chromosome 15 in this and previously linked families placed the susceptibility region in an 11-cM interval between markers D15S1042 and D15S659.
Xu et al. (2012) sequenced a total of 795 exomes from 231 parent-proband trios enriched for sporadic schizophrenia cases from Afrikaner and U.S cohorts, as well as 34 unaffected trios, and observed in cases an excess of de novo nonsynonymous single-nucleotide variants as well as a higher prevalence of gene-disruptive de novo mutations relative to controls. Xu et al. (2012) found 4 genes, LAMA2 (156225), DPYD, (612779), TRRAP (603015), and VPS39 (612188), affected by recurrent de novo events within or across the 2 populations, which is unlikely to have occurred by chance. Xu et al. (2012) identified a missense and splice site mutation in VPS39 occurring as a de novo event in 2 individuals with schizophrenia, 1 from a U.S. population and 1 from an Afrikaner population. VPS39 is within the SCZD10 critical interval. Xu et al. (2012) showed that de novo mutations affect genes with diverse functions and developmental profiles, but they also found a substantial contribution of mutations in genes with higher expression in early fetal life.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Masklike facies \- Grimacing \- Derangements of facial expression NEUROLOGIC Behavioral Psychiatric Manifestations \- Schizophrenia, atypical \- Psychotic episodes \- Hallucinations \- Delusions \- Stuporous catatonia \- Excited catatonia \- Iterations \- Parakinesis \- Diminished incentive \- Psychomotor disturbances during acute psychotic outbursts ▲ 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
|
SCHIZOPHRENIA 10
|
c0543918
| 25,255 |
omim
|
https://www.omim.org/entry/605419
| 2019-09-22T16:11:19 |
{"omim": ["605419"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED", "CATATONIA, PERIODIC"]}
|
Preherpetic neuralgia is a form of nerve pain (neuralgia) specifically associated with a Shingles (herpes zoster) viral infection. This nerve pain often precedes visible indications of a Shingles infection and consequently can be a key early indicator of a need to begin preventative anti-viral drug therapy. Pain associated with Shingles can be extremely difficult to treat whereas the source is related to the virus attacking the nervous system itself. Pain symptoms can last months or years beyond any outward sign of viral infection and can be quite severe. The combination of extreme pain severity and longevity can contribute to chronic depression and even suicide.[1][2]
## See also[edit]
* Ramsay Hunt syndrome type 2
* Postherpetic neuralgia
## References[edit]
1. ^ Gilden, D. H; Dueland, A. N; Cohrs, R; Martin, J. R; Kleinschmidt-Demasters, B. K; Mahalingam, R (1991). "Preherpetic neuralgia". Neurology. 41 (8): 1215–8. doi:10.1212/WNL.41.8.1215. PMID 1866008.
2. ^ Saguil, A; Kane, S; Mercado, M; Lauters, R (2017). "Herpes Zoster and Postherpetic Neuralgia: Prevention and Management". American Family Physician. 96 (10): 656–663. PMID 29431387.
## Further reading[edit]
* Nagane, Y; Utsugisawa, K; Yonezawa, H; Tohgi, H (2001). "A case with trigeminal herpes zoster manifesting a long lesion of the spinal trigeminal nucleus and tract on MR T2-weighted image". Rinsho Shinkeigaku (Clinical Neurology). 41 (1): 56–9. PMID 11433769.
* Wasner, G; Kleinert, A; Binder, A; Schattschneider, J; Baron, R (2005). "Postherpetic neuralgia: Topical lidocaine is effective in nociceptor–deprived skin". Journal of Neurology. 252 (6): 677–86. doi:10.1007/s00415-005-0717-z. PMID 15778907.
* Holland, N Julian; Weiner, Graeme M (2004). "Recent developments in Bell's palsy". BMJ. 329 (7465): 553–7. doi:10.1136/bmj.329.7465.553. PMC 516110. PMID 15345630.
* Trescot, Andrea M. (2006). "Shingles and interventional pain treatment". ASIPP News: 22–3.
* Sarraf, S; Singh, S; Pandey, S. S (1996). "Preherpetic neuralgia masquerading as angina". Indian Journal of Dermatology, Venereology and Leprology. 62 (1): 63. PMID 20947984.
* Sandipan, Dhar; Amrinder, Kanwar (1993). "Pre-herpetic neuralgia masquerading as migraine". Indian Journal of Dermatology. 59 (3): 155.
* Segal, Alan Z. (2005). "A Vaccine to Prevent Shingles—treating Post-herpetic Neuralgia in a Pre-herpetic State". Neurology Alert. 23 (12): 92–3.
*[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
|
Preherpetic neuralgia
|
None
| 25,256 |
wikipedia
|
https://en.wikipedia.org/wiki/Preherpetic_neuralgia
| 2021-01-18T18:46:22 |
{"wikidata": ["Q55630394"]}
|
Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.
## Epidemiology
Prevalence ranges from 0.03 to 0.056 per 1,000 live births. In Europe, the average recorded prevalence is 1/10,000 births (including livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis). No striking difference in frequency is observed between the sexes, although most series contain more males than females.
## Clinical description
Neonates with TA present with clinical features of congestive heart failure depending on the extent of the increase in volume of pulmonary blood flow and the presence or absence of truncal valve insufficiency. Symptoms of failure manifest as falls in pulmonary resistance and increases in pulmonary overcirculation occur. Tachypnea, tachycardia, excessive sweating, poor feeding may be the first signs to appear.
## Etiology
The etiology of TA remains unknown. In experimental animal models, TA has been linked to abnormal development of cells from the neural crest that are normally located in the outflow region of the developing heart; this is also thought to be an important etiologic factor in some cases of human TA.
## Antenatal diagnosis
Prenatal detection of truncus arteriosus by ultrasound is documented.
## Management and treatment
In the last 10 to 15 years there have been clinically significant improvements in treatment with early repair. It is now recommended that TA is repaired in the neonatal period and morbidity and mortality are as low as 5% in selected series. Currently, surgical management consists of complete repair with closure of the VSD.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Truncus arteriosus
|
c0041207
| 25,257 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3384
| 2021-01-23T17:54:52 |
{"mesh": ["D014339"], "omim": ["217095"], "umls": ["C0041207"], "icd-10": ["Q20.0"], "synonyms": ["Common aorticopulmonary trunk", "Common arterial trunk", "TAC"]}
|
Eales disease
SpecialtyOphthalmology
Eales disease is a type of obliterative vasculopathy, also known as angiopathia retinae juvenilis, periphlebitis retinae, primary perivasculitis of the retina. It was first described by the British ophthalmologist Henry Eales (1852–1913) in 1880[1] and is a rare ocular disease characterized by inflammation and possible blockage of retinal blood vessels, abnormal growth of new blood vessels (neovascularization), and recurrent retinal and vitreal hemorrhages.[2] This disease is identified by its three characteristic steps: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. Eales Disease with a characteristic clinical picture, fluorescein angiographic finding, and natural course is considered a specific disease entity. The exact cause of this disease is unknown but it appears to affect individuals that are from Asian subcontinents. This disease tends to begin between the ages of 20-30 years and begins with unilateral peripheral retinal perivasculitis and peripheral retinal capillary non-perfusion. These are not normally recognized until the inflammation results in vitreous hemorrhage.[3] This disease has been found to affect the second eye 50-90% of the time so there is a large chance that both eyes will begin to show signs of the disease.[4]
## Contents
* 1 Presentation
* 2 Aetiology
* 3 Pathology
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Presentation[edit]
Patients are often asymptomatic in the initial stages of retinal perivasculitis. Some may develop symptoms such as floaters, blurring vision, or even gross diminution of vision due to massive vitreous hemorrhage. Vision in these patients can be normal to hand movements or light perception only. Bilaterality is quite common (50–90%) in patients.
Signs of Eales disease include: visible inflammation in the blood vessels in the eyes (vasculitis) and the rupturing of blood vessels (vitreous hemorrhages). There may also be other signs that are identified via eye examination that can show retinal tears and retinal detachment that can lead to disruption of vision and blindness (though this is rare). Epiretinal membranes (ERM) can also be found on patients where the disease has progressed along to retinal detachment, Rubeosis iridis, neovascular glaucoma, cataracts, and optic atrophy.[4]
Symptoms of Eales disease include: mild reduction in vision due to vitreous hemorrhages, headaches, dyspepsia, constipation, and epistaxis. Eye floaters may develop indicating the possibility of the progression of the disease to a point where retinal detachment is a concern.[4]
The only variation in the signs and symptoms seems to come from the varying severity of vasculitis and damage done to the eyes from vitreous hemorrhages causing different levels of vision deficiencies.
## Aetiology[edit]
The cause of this condition is not known. However, in a significant number of patients, DNA of the bacterium Mycobacterium tuberculosis has been detected by PCR.[5] Eales disease exact causes are not known. There have been some studies that implicate T-cells in the onset of the vasculitis, indicating that there may be an autoimmune factor to this disease. The exact event that causes the symptoms to begin are not known though Eales has been found to be associated with the tuberculosis bacteria (Mycobacterium tuberculosis). Through examination of samples taken from epiretinal membrane (ERM), genetic similarities with the bacteria have been found. Samples were taken into culture and the bacteria was not able to be cultured or isolated indicating that the bacteria is most likely not present, but this does not rule out the presence of genetic similarities. In result, the exact causes are unknown and further research is needed to determine the exact events and causes that lead to the development of the disease.[4]
## Pathology[edit]
It is characterized by three overlapping stages of venous inflammation (vasculitis), occlusion, and retinal neovascularization. The exact mechanism is not known but it has been preposed that T-cells play a role in the inflammation that begins in the eye. Vascular endothelial growth factor (VEGF) is found in an increased amount in patients with ED and explains the increase in vascularization within the eye. Neovascularization is stimulated by hypoxia or ischemia.[6]
## Diagnosis[edit]
Diagnosis of Eales Disease is mainly clinical with exclusion. Diagnosis of this disease can be complete through several different diagnostic tests. These tests include fundus fluorescein angiography (FFA) and ocular coherence tomography (OCT). FFA is used to identify Retinal periphlebitis (inflammation of the peripheral blood vessels in the eye) or peripheral non-perfusion. OCT is a noninvasive way to view the retina and identify macular edema, neovascularization, and hemorrhage.[4]
The diagnosis of Eales disease can be broken down into several stages due to the regular progression of the disease.[6]
Stage Description
I Periphlebitis of small (Ia) and large (Ib) caliber vessels with superficial retinal hemorrhages
IIa Capillary non-perfusion
IIb Revascularization elsewhere/of the disc
IIIa Fibrovascular proliferation
IIIb Vitreous hemorrhage
IVa Traction/combined rhegmatogenous retinal detachment
IVb Rubeosis iridis, neovascular glaucoma, complicated cataract, and optic atrophy
### Differential diagnosis[edit]
There are many other ailments that show similar symptoms to ED. Differential diagnosis are as follows; retinopathy of prematurity (ROP) sequelae, familial exudative vitreoretinopathy, sarcoidosis, Behçet disease, sickle cell anemia, Terson syndrome, post traumatic vitreous hemorrhage, juvenile diabetes and primary branch retinal vein occlusion.[4]
## Treatment[edit]
Treatment of Eales Disease comprises:
1\. Medical treatment: A course of oral corticosteroids for extended periods is the mainstay of treatment during active inflammation. A course of antitubercular therapy has also been recommended in selective cases.
2\. Laser photocoagulation of the retina is indicated in stage of neovascularizion.
3\. Vitreoretinal surgery is required for nonresolving vitreous haemorrhage and tractional retinal detachment.[7]
•If active TB is present - treat with ATT
•otherwise manage the vitreous hemorrhage -
Partial h’ge - postural management with propped up position
Total h’ge - Pars Plana Vitrectomy[6]
## Epidemiology[edit]
Eales Disease most commonly affects healthy young adults. Male predominance (up to 97.6%) has been reported in a majority of the series, however one study reported that men and women are affected equally.[8] The predominant age of onset of symptoms is between 20 and 30 years. The disease is now seen most commonly in the Indian subcontinent and its global incidence appears to be declining, probably largely due to improved public health and nutrition.[9]
## References[edit]
1. ^ Biswas, Jyotirmay; Ravi, Reesha Karingattil; Naryanasamy, Angayarkanni; Kulandai, Lily Therese; Madhavan, Hajib Naraharirao (2013-01-14). "Eales' disease - current concepts in diagnosis and management". Journal of Ophthalmic Inflammation and Infection. 3 (1): 11. doi:10.1186/1869-5760-3-11. ISSN 1869-5760. PMC 3605068. PMID 23514227.
2. ^ Cassin, B.; Solomon, S. (1990). Dictionary of Eye Terminology. Gainesville, Florida: Triad Publishing Company.[full citation needed]
3. ^ Deobhakta, Avnish; Chang, Louis K. (2013). "Inflammation in Retinal Vein Occlusion". International Journal of Inflammation. 2013: 438412. doi:10.1155/2013/438412. ISSN 2090-8040. PMC 3638676. PMID 23653882.
4. ^ a b c d e f RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Eales disease". www.orpha.net. Retrieved 2019-12-16.
5. ^ Madhavan, HN; Therese, KL; Doraiswamy, K (March 2002). "Further investigations on the association of Mycobacterium tuberculosis with Eales' disease". Indian J Ophthalmol. 50 (1): 35–9. PMID 12090085.
6. ^ a b c Biswas, Jyotirmay; Ravi, Reesha Karingattil; Naryanasamy, Angayarkanni; Kulandai, Lily Therese; Madhavan, Hajib Naraharirao (2013-01-14). "Eales' disease - current concepts in diagnosis and management". Journal of Ophthalmic Inflammation and Infection. 3: 11. doi:10.1186/1869-5760-3-11. ISSN 1869-5760. PMC 3605068. PMID 23514227.
7. ^ Comprehensive Ophthalmology, (4th Ed) 2007 by A K Khurana, Professor, Regional Institute of Ophthalmology, Postgraduate Institute of Medical Sciences, Rohtak- 124001, India
8. ^ Eales disease at eMedicine
9. ^ "Eales Disease - an overview | ScienceDirect Topics". www.sciencedirect.com. Retrieved 2019-09-08.
## External links[edit]
Classification
D
* ICD-10: H35.0
* ICD-9-CM: 362.18
* MeSH: C538011
* DiseasesDB: 4028
External resources
* eMedicine: article/1225636
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Eales disease
|
c0271073
| 25,258 |
wikipedia
|
https://en.wikipedia.org/wiki/Eales_disease
| 2021-01-18T18:44:32 |
{"gard": ["6309"], "mesh": ["C538011"], "umls": ["C0271073"], "icd-9": ["362.18"], "icd-10": ["H35.0"], "orphanet": ["40923"], "wikidata": ["Q3772316"]}
|
Fear or discomfort with advanced technology
Computers, among many other technologies, are feared by technophobes.
Technophobia (from Greek τέχνη technē, "art, skill, craft"[1] and φόβος phobos, "fear"[2]) is the fear or dislike of advanced technology or complex devices, especially computers.[3] Although there are numerous interpretations of technophobia, they become more complex as technology continues to evolve. The term is generally used in the sense of an irrational fear, but others contend fears are justified. It is the opposite of technophilia. It is also known as technofear.
Larry Rosen, a research psychologist, computer educator, and professor at California State University, Dominguez Hills, suggests that there are three dominant subcategories of technophobes – the "uncomfortable users", the "cognitive computerphobes", and "anxious computerphobes".[4] First receiving widespread notice during the Industrial Revolution, technophobia has been observed to affect various societies and communities throughout the world. This has caused some groups to take stances against some modern technological developments in order to preserve their ideologies. In some of these cases, the new technologies conflict with established beliefs, such as the personal values of simplicity and modest lifestyles.
Examples of technophobic ideas can be found in multiple forms of art, ranging from literary works such as Frankenstein to films like Metropolis. Many of these works portray a darker side to technology, as perceived by those who are technophobic. As technologies become increasingly complex and difficult to understand, people are more likely to harbor anxieties relating to their use of modern technologies.
## Contents
* 1 Prevalence
* 2 History
* 3 Luddites
* 4 Selective use of modern technologies among Old Order Anabaptists
* 5 Technophobia in arts
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Prevalence[edit]
A study published in the journal Computers in Human Behavior was conducted between 1992 and 1994 surveying first-year college students across various countries.[5] The overall percentage of the 3,392[6] students who responded with high-level technophobic fears was 29%.[6] In comparison, Japan had 58% high-level technophobes and Mexico had 53%.[6]
A published report in 2000 stated that roughly 85-90% of new employees at an organization may be uncomfortable with new technology, and are technophobic to some degree.[7]
## History[edit]
This section needs expansion with: This section ends abruptly after the 1980s. It would be helpful if somebody added some info regarding the 1990s and the 21st century. You can help by adding to it. Relevant discussion may be found on Talk:Technophobia. (May 2018)
Technophobia began to gain attention as a movement in England with the dawn of the Industrial Revolution. With the development of new machines able to do the work of skilled craftsmen using unskilled, underpaid men, women, and children, those who worked a trade began to fear for their livelihoods. In 1675, a group of weavers destroyed machines that replaced their jobs. By 1727, the destruction had become so prevalent that Parliament made the demolition of machines a capital offense. This action, however, did not stop the tide of violence. The Luddites, a group of anti-technology workers, united under the name "Ludd" in March 1811, removing key components from knitting frames, raiding houses for supplies, and petitioning for trade rights while threatening greater violence. Poor harvests and food riots lent aid to their cause by creating a restless and agitated population for them to draw supporters from.[8]
The 19th century was also the beginning of modern science, with the work of Louis Pasteur, Charles Darwin, Gregor Mendel, Michael Faraday, Henri Becquerel, and Marie Curie, and inventors such as Nikola Tesla, Thomas Edison and Alexander Graham Bell. The world was changing rapidly, too rapidly for many, who feared the changes taking place and longed for a simpler time. The Romantic movement exemplified these feelings. Romantics tended to believe in imagination over reason, the "organic" over the mechanical, and a longing for a simpler, more pastoral time. Poets like William Wordsworth and William Blake believed that the technological changes that were taking place as a part of the industrial revolution were polluting their cherished view of nature as being perfect and pure.[9]
After World War II, a fear of technology continued to grow, catalyzed by the bombings of Hiroshima and Nagasaki. With nuclear proliferation and the Cold War, people began to wonder what would become of the world now that humanity had the power to manipulate it to the point of destruction. Corporate production of war technologies such as napalm, explosives, and gases during the Vietnam War further undermined public confidence in technology's worth and purpose.[10] In the post-WWII era, environmentalism also took off as a movement. The first international air pollution conference was held in 1955, and in the 1960s, investigations into the lead content of gasoline sparked outrage among environmentalists. In the 1980s, the depletion of the ozone layer and the threat of global warming began to be taken more seriously.[11]
## Luddites[edit]
The Leader of the Luddites, engraving of 1812
Several societal groups are considered technophobic, the most recognisable of which are the Luddites. Many technophobic groups revolt against modern technology because of their beliefs that these technologies are threatening their ways of life and livelihoods.[12] The Luddites were a social movement of British artisans in the 19th century who organized in opposition to technological advances in the textile industry.[8] These advances replaced many skilled textile artisans with comparatively unskilled machine operators. The 19th century British Luddites rejected new technologies that impacted the structure of their established trades, or the general nature of the work itself.
Resistance to new technologies did not occur when the newly adopted technology aided the work process without making significant changes to it. The British Luddites protested the application of the machines, rather than the invention of the machine itself. They argued that their labor was a crucial part of the economy, and considered the skills they possessed to complete their labor as property that needed protection from the destruction caused by the autonomy of machines.[13]
## Selective use of modern technologies among Old Order Anabaptists[edit]
Groups considered by some people to be technophobic are the Amish and other Old Order Anabaptists. The Amish follow a set of moral codes outlined in the Ordnung, which rejects the use of certain forms of technology for personal use. Donald B. Kraybill, Karen M. Johnson-Weiner and Steven M. Nolt state in their book The Amish:
> More significantly the Amish modify and adapt technology in creative ways to fit their cultural values and social goals. Amish technologies are diverse, complicated and ever-changing.[14]
What the Amish do, is selective use of modern technologies in order to maintain their belief and culture.[15]
## Technophobia in arts[edit]
Frankenstein is often considered to be an early example of technophobic ideas in art.
An early example of technophobia in fiction and popular culture is Mary Shelley's Frankenstein.[16] It has been a staple of science fiction ever since, exemplified by movies like Fritz Lang's Metropolis, which offer examples of how technophobia can occur, and Charlie Chaplin's Modern Times, in which people are reduced to nothing but cogs in the machinery, a product of new industrial techniques like the assembly line. This persisted through the 1960s, with the fears of nuclear weapons and radiation leading to giant insects in monster movies, cautionary tales like The Day the Earth Stood Still, and The Hulk. This was joined by fears of superintelligent machines, and rebellion amongst them, which was a recurring theme of Star Trek, from the original series to Star Trek: The Next Generation to Star Trek: Voyager in the 1990s.
A 1960 episode of The Twilight Zone called "A Thing About Machines", deals with a man's hatred for modern things such as electric razors, televisions, electric typewriters and clocks.
The 1971 film The Omega Man (loosely based on the Richard Matheson novel I am Legend) showed a world scarred by biological warfare and only a handful of humans and a cult of mutants remain alive. Charlton Heston's character is a scientist who is being targeted by the mutants who wish to destroy all science and machinery due to their technophobic beliefs. Technophobia is also thematic in Walter M. Miller's novel A Canticle for Leibowitz, in which nuclear war produces an attempt to stamp out science itself, which is held to be responsible.
In the 1970s, films such as Colossus: The Forbin Project and Demon Seed offered samples of domination by computers. The film Westworld, released in 1973, revolves around world of entertainment humanoids going completely wrong when they turn against humans. Also in the 1970s, Rich Buckler created Deathlok, a cyborg revivified by a madman as a slave killing machine, a dark twist on Frankenstein.
Technophobia achieved commercial success in the 1980s with the movie The Terminator, in which a computer becomes self-aware, and decides to kill all humans.[16] Blade Runner shows us how human replicas were able to live on Earth, portraying technology gone wrong in "replicants" unhappy with their man-made limitations which demand they be "modified". Star Trek: Voyager introduced another twist, when "surplus" EMHs, such sophisticated expert systems as to be almost indistinguishable from human, being effectively reduced to slavery, while other, similar systems were turned into sentient prey.
More recently there have been movies like I, Robot, The Matrix Trilogy, WALL-E, and the Terminator sequels. Shows such as Doctor Who—most specifically in the episode "Robots of Death"—have also tackled the issue of technophobia, with a character in "Robots of Death" displaying a great fear of robots due to their lack of body language, described by the Fourth Doctor as giving them the appearance of "dead men walking". Series consultant Kit Pedler also used this fear as a basis for the inspiration of classic Doctor Who monsters the Cybermen, with the creatures being inspired by his own fear of artificial limbs becoming so common that it would become impossible to know when someone had stopped being a man and become simply a machine. Virtuosity speaks of a virtual serial killer who manages to escape to the real world. He goes on a rampage before he is inevitably stopped. This is a true technophobic movie in that its main plot is about technology gone wrong. It introduces a killer who blatantly destroys people.[17]
Avatar is exemplary of technology's hold on humans who are empowered by it and visually demonstrates the amount of terror it instills upon those native to the concept. It enforces the notion that foreign creatures from Pandora are not only frightened by technology, but it is something they loathe; its potential to cause destruction could exceed their very existence. In contrast, the film itself used advanced technology such as the stereoscope in order to give viewers the illusion of physically taking part in an experience that would introduce them to a civilization struggling with technophobia.[18]
The 2009 animated film 9 opens with the line, "We had such potential, such promise; but we squandered our gifts, our intelligence. Our blind pursuit of technology only sped us quicker to our doom. Our world is ending."
Godfrey Reggio's Qatsi trilogy also deals heavily with issues of technophobia. The idea of keeping the "thinkers" and "workers" separate shows us that even the people who embraced technology feared the potential of it in some way.
In the PC game Wing Commander: Privateer, a fanatical quasi-religious group, called the Retros, wishes to overthrow all forms of technology, even if doing so, they themselves have to use it in order to fulfill their goal. They play a central role in the Righteous Fire expansion game, wherein a new mysterious leader leads the group in an attempt to destroy all non-adherents of their religion.
## See also[edit]
* Anarcho-primitivism
* Anti-consumerism
* Antiscience
* Chemophobia
* Cyberphobia
* "Darwin among the Machines"
* Dystopia
* Digital phobic
* Erewhon
* List of phobias
* Minimalism in philosophy
* Neo-Luddism
* NIMBY
* Radical environmentalism
* Reactionary
* Technophilia
* Technostress
* Uncanny valley
## References[edit]
1. ^ τέχνη, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
2. ^ φόβος, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
3. ^ "Definition of "Technophobia"". Dictionary.reference.com. Retrieved 2008-07-29. "
(1) tech·no·pho·bi·a (těk'nə-fō'bē-ə) n. Fear of or aversion to technology, especially computers and high technology. -Related forms: tech'no·phobe' n., tech'no·pho'bic (-fō'bĭk) adj."— (American Heritage Dictionary)
(2) "tech·no·pho·bi·a /ˌtɛknəˈfoʊbiə/ \- Show Spelled Pronunciation [tek-nuh-foh-bee-uh] –noun abnormal fear of or anxiety about the effects of advanced technology. [Origin: 1960–65; techno- + -phobia] —Related forms: tech·no·phobe, noun —(Dictionary.com unabridged (v1.1) based on the Random House unabridged Dictionary, © Random House, Inc. 2006.)"
4. ^ Gilbert, David, Liz Lee-Kelley, and Maya Barton. "Technophobia, gender influences and consumer decision-making for technology-related products." European Journal of Innovation Management 6.4 (2003): pp. 253-263. Print.
5. ^ Weil, Michelle M.; Rosen, Larry D. (1995). "A Study of Technological Sophistication and Technophobia in University Students From 23 Countries". Computers in Human Behavior. 11 (1): 95–133. doi:10.1016/0747-5632(94)00026-E. "Over a two-year period, from 1992 - 1994, data were collected from 3,392 first year university students in 38 universities from 23 countries on their level of technological sophistication and level of technophobia."
6. ^ a b c Weil, Michelle M.; Rosen, Larry D. (1995). "A Study of Technological Sophistication and Technophobia in University Students From 23 Countries". Computers in Human Behavior. 11 (1): 95–133. doi:10.1016/0747-5632(94)00026-E. "Table 2. Percentage of Students in each country who possessed high levels of technophobia"; several points are worth noting from Table 2. First, a group of countries including Indonesia, Poland, India, Kenya, Saudi Arabia, Japan, Mexico and Thailand show large percentages (over 50%) of technophobic students. In contrast, there are five countries which show under 30% technophobes (USA, Yugoslavia - Croatia, Singapore, Israel and Hungary). The remaining countries were in between these two groupings.
7. ^ "Index - Learning Circuits - ASTD". Learning Circuits. Archived from the original on 2008-05-11. Retrieved 2010-06-02.
8. ^ a b Kevin Binfield. "Luddite History - Kevin Binfield - Murray State University". Campus.murraystate.edu. Archived from the original on 2010-06-10. Retrieved 2010-06-02.
9. ^ "Romanticism". Wsu.edu. Archived from the original on 2010-05-28. Retrieved 2010-06-02.
10. ^ Goodyear, Anne Collins (2008). "From Technophilia to Technophobia: The Impact of the Vietnam". Leonardo. 41 (2): 169–173. doi:10.1162/leon.2008.41.2.169. S2CID 57570414.
11. ^ "Environmental History Timeline". Runet.edu. 1969-06-22. Retrieved 2010-06-02.
12. ^ "The Luddites". Regent.edu. Archived from the original on 2010-05-29. Retrieved 2010-06-02.
13. ^ Randall, Adrien (1997). "Reinterpreting 'Luddism': Resistance to New Technology in the British Industrial Revolution" Resistance to New Technology: Nuclear Power, Information Technology and Biotechnology. Cambridge University Press. pp. 57–80.
14. ^ Donald B. Kraybill, Karen M. Johnson-Weiner and Steven M. Nolt: The Amish, Baltimore 2013, page 313.
15. ^ Look Who's Talking \- an article about the selective use of technologies among the Amish.
16. ^ a b "Critical Essay—Old Games, Same Concerns: Examining First Generation Video Games Through Popular Press Coverage from 1972-1985 | Technoculture". tcjournal.org. Retrieved 2019-11-08.
17. ^ Technophobia: Science Fiction Visions of Posthuman Technology
18. ^ Dana Goodyear "Man of Extremes" "The New Yorker"http://www.newyorker.com/reporting/2009/10/26/091026fa_fact_goodyear
## Further reading[edit]
* Brosnan, M. (1998) Technophobia: The psychological impact of information technology. Routledge.
* Dan Dinello Technophobia: Science Fiction Visions of Posthuman Technology
* "Environmental History Timeline." 20 July 2008.
## External links[edit]
* The dictionary definition of technophobia at Wiktionary
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
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*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
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*[TCAs]: Tricyclic antidepressants
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*[CREB]: cAMP response element binding protein
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*[DDD]: degenerative disc disease
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
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*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
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*[a.k.a.]: also known as
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*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
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*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
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*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Technophobia
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None
| 25,259 |
wikipedia
|
https://en.wikipedia.org/wiki/Technophobia
| 2021-01-18T19:09:57 |
{"wikidata": ["Q1042900"]}
|
Geschwind syndrome, also known as Gastaut-Geschwind, is a group of behavioral phenomena evident in some people with temporal lobe epilepsy. It is named for one of the first individuals to categorize the symptoms, Norman Geschwind, who published prolifically on the topic from 1973 to 1984.[1] There is controversy surrounding whether it is a true neuropsychiatric disorder.[2] Temporal lobe epilepsy causes chronic, mild, interictal (i.e. between seizures) changes in personality, which slowly intensify over time.[1] Geschwind syndrome includes five primary changes; hypergraphia, hyperreligiosity, atypical (usually reduced) sexuality, circumstantiality, and intensified mental life.[3] Not all symptoms must be present for a diagnosis.[2] Only some people with epilepsy or temporal lobe epilepsy show features of Geschwind syndrome.[4]
## Contents
* 1 Features
* 1.1 Hypergraphia
* 1.2 Hyperreligiosity
* 1.3 Atypical sexuality
* 1.4 Circumstantiality
* 1.5 Intensified mental life
* 2 See also
* 3 References
## Features[edit]
### Hypergraphia[edit]
Hypergraphia is the tendency for extensive and compulsive writing or drawing, and has been observed in persons with temporal lobe epilepsy who have experienced multiple seizures.[5] Those with hypergraphia display extreme attention to detail in their writing. Some such patients keep diaries recording meticulous details about their everyday lives. In certain cases, these writings demonstrate extreme interest in religious topics. These individuals also tend to have poor penmanship. The great Russian novelist Fyodor Dostoyevsky, known to suffer from epilepsy, showed signs of Geschwind syndrome, including hypergraphia.[6] In some cases hypergraphia can manifest with compulsive drawing.[7] Drawings by patients with hypergraphia exhibit repetition and a high level of detail, sometimes morphing writing with drawing.[8]
### Hyperreligiosity[edit]
Some individuals may exhibit hyperreligiosity, characterized by increased, usually intense, religious feelings and philosophical interests,[9] and partial (temporal lobe) epilepsy patients experiencing frequent auras, perceived as numinous in character, exhibit greater ictal and interictal spirituality.[10] Some auras include ecstatic experiences.[11] It has been reported that many religious leaders exhibit this form of epilepsy.[12][13] These religious feelings can motivate beliefs within any religion, including voodoun,[14] Christianity, Islam,[15] and others. Furthermore, "in someone from a strongly religious background hyperreligiosity might appear as deeply felt atheism".[16][17] There are reports of patients converting between religions.[18] A few patients internalize their religious feelings: when asked if they are religious they say they are not.[19] One reviewer concluded that the evidence for a link between temporal lobe epilepsy and hyperreligiosity "isn't terribly compelling".[20]
### Atypical sexuality[edit]
People with Geschwind syndrome reported higher rates of atypical or altered sexuality.[21] In approximately half of affected individuals hyposexuality is reported.[22][23] Less commonly, cases of hypersexuality have been reported.[24]
### Circumstantiality[edit]
Individuals that demonstrate circumstantiality (or viscosity) tend to continue conversations for a long time and talk repetitively.[25]
### Intensified mental life[edit]
Individuals may demonstrate an intensified mental life, including deepened cognitive and emotional responses. This tendency may pair with hypergraphia, leading to prolific creative output and a tendency toward intense, solitary pursuits.
## See also[edit]
* Temporal lobe epilepsy
* Fyodor Dostoevsky
* Pope Pius IX
* Saint Teresa of Ávila
* Vincent van Gogh
## References[edit]
1. ^ a b Devinsky, J.; Schachter, S. (2009). "Norman Geschwind's contribution to the understanding of behavioral changes in temporal lobe epilepsy: The February 1974 lecture". Epilepsy & Behavior. 15 (4): 417–24. doi:10.1016/j.yebeh.2009.06.006. PMID 19640791. S2CID 22179745.
2. ^ a b Benson, D. F. (1991). "The Geschwind syndrome". Advances in Neurology. 55: 411–21. PMID 2003418.
3. ^ Tebartz Van Elst, L.; Krishnamoorthy, E. S.; Bäumer, D.; Selai, C.; von Gunten, A.; Gene-Cos, N.; Ebert, D.; Trimble, M. R. (2003). "Psychopathological profile in patients with severe bilateral hippocampal atrophy and temporal lobe epilepsy: Evidence in support of the Geschwind syndrome?". Epilepsy & Behavior. 4 (3): 291–297. doi:10.1016/S1525-5050(03)00084-2. PMID 12791331. S2CID 34974937.
4. ^ Benson, D.F. & Hermann, B.P. (1998) Personality disorders. In J. Engel Jr. & T.A. Pedley (Eds.) Epilepsy: A comprehensive textbook. Vol. II (pp.2065–2070). Philadelphia: Lippincott–Raven.
5. ^ Tremont, Geoffrey; Smith, Megan M; Bauer, Lyndsey; Alosco, Michael L; Davis, Jennifer D; Blum, Andrew S; LaFrance, W Curt (2012). "Comparison of personality characteristics on the Bear-Fedio Inventory between patients with epilepsy and those with non-epileptic seizures". The Journal of Neuropsychiatry and Clinical Neurosciences. 24 (1): 47–52. doi:10.1176/appi.neuropsych.11020039. PMID 22450613.
6. ^ Hughes, John R (2005). "The idiosyncratic aspects of the epilepsy of Fyodor Dostoevsky". Epilepsy & Behavior. 7 (3): 531–8. doi:10.1016/j.yebeh.2005.07.021. PMID 16194626. S2CID 2492211.
7. ^ Roberts, JK; Robertson, MM; Trimble, MR (February 1982). "The lateralising significance of hypergraphia in temporal lobe epilepsy". Journal of Neurology, Neurosurgery, and Psychiatry. 45 (2): 131–8. doi:10.1136/jnnp.45.2.131. PMC 1083040. PMID 7069424.
8. ^ Michael, Michael Jeffrey Aminoff. Neurology and General Medicine. p. 597.
9. ^ Devinsky, Julie; Schachter, Steven (2009). "Norman Geschwind's contribution to the understanding of behavioral changes in temporal lobe epilepsy: the February 1974 lecture". Epilepsy & Behavior. 15 (4): 417–24. doi:10.1016/j.yebeh.2009.06.006. PMID 19640791. S2CID 22179745.
10. ^ Dolgoff-Kaspar, R; et al. (2011). "Numinous-like auras and spirituality in persons with partial seizures". Epilepsia. 52 (3): 640–6. doi:10.1111/j.1528-1167.2010.02957.x. PMID 21395568. S2CID 27734180. "Epilepsy patients with frequent numinous-like auras have greater ictal and interictal spirituality of an experiential, personalized, and atypical form, which may be distinct from traditional, culturally based religiosity."
11. ^ Picard, Fabienne; Kurth, Florian (2014). "Ictal alterations of consciousness during ecstatic seizures". Epilepsy & Behavior. 30: 58–61. doi:10.1016/j.yebeh.2013.09.036. PMID 24436968. S2CID 45743175. Lay summary. "Patients with ecstatic epileptic seizures report an altered consciousness, which they describe as a sense of heightened perception of themselves - they "feel very present"- and an increased vividness of sensory perceptions"
12. ^ Muhammed, Louwai (2013). "A retrospective diagnosis of epilepsy in three historical figures: St Paul, Joan of Arc and Socrates". Journal of Medical Biography. 21 (4): 208–11. doi:10.1177/0967772013479757. PMID 24585826. S2CID 28465979.
13. ^ Nakken, Karl O; Brodtkorb, Eylert (2011). "[Epilepsy and religion]". Tidsskrift for den Norske Lægeforening. 131 (13–14): 1294–7. doi:10.4045/tidsskr.10.1049. PMID 21725389.
14. ^ Carrazana E.; et al. (1999). "Epilepsy and Religious Experiences: Voodoo Possession". Epilepsia. 40 (2): 239–241. doi:10.1111/j.1528-1157.1999.tb02081.x. PMID 9952273. S2CID 45078166.
15. ^ Stephen, M.D. Salloway (1997). "The Neural Substrates of Religious Experience". The Neuropsychiatry of Limbic and Subcortical Disorders. American Psychiatric Publications. ISBN 978-0880489423.
16. ^ Heilman, Kenneth M.; Valenstein, Edward (13 October 2011). Clinical Neuropsychology. Oxford University Press. p. 488. ISBN 9780195384871. "Studies that claim to show no difference in emotional makeup between temporal lobe and other epileptic patients (Guerrant et. al., 1962; Stevens, 1966) have been reinterpreted (Blumer, 1975) to indicate that there is, in fact, a difference: those with temporal lobe epilepsy are more likely to have more serious forms of emotional disturbance. This "typical personality" of temporal lobe epileptic patient has been described in roughly similar terms over many years (Blumer & Benson, 1975; Geschwind, 1975, 1977; Blumer, 1999; Devinsky & Schachter, 2009). These patients are said to have a deepening of emotions; they ascribe great significance to commonplace events. This can be manifested as a tendency to take a cosmic view; hyperreligiosity (or intensely professed atheism) is said to be common."
17. ^ LaPlante, Eve (22 March 2016). Seized: Temporal Lobe Epilepsy as a Medical, Historical, and Artistic Phenomenon. Open Road Distribution. p. 181. ISBN 9781504032773.
18. ^ Dewhurst, K; Beard, A W (1970). "Sudden religious conversions in temporal lobe epilepsy". The British Journal of Psychiatry. 117 (540): 497–507. doi:10.1192/bjp.117.540.497. PMID 5480697.
19. ^ Waxman, Stephen G, MD; Geschwind, Norman, MD (1972). "The Interictal Behavior Syndrome of Temporal Lobe Epilepsy". Archives of General Psychiatry. 32 (12): 1580–1586. doi:10.1001/archpsyc.1975.01760300118011. PMID 1200777. Lay summary – Although the patient denied being religious, his writings contained numerous religious references, and some pages were adorned with religious symbols.
20. ^ Craig Aaen-Stockdale (2012). "Neuroscience for the Soul". The Psychologist. 25 (7): 520–523.
21. ^ Gerhard J. Luef (2008). "Epilepsy and sexuality". Seizure. 17 (2): 127–130. doi:10.1016/j.seizure.2007.11.009. PMID 18180175. S2CID 15147140.
22. ^ Harden, Cynthia L (2006). "Sexuality in men and women with epilepsy". CNS Spectrums. 11 (8 Suppl 9): 13–8. doi:10.1017/S1092852900026717. PMID 16871133.
23. ^ L Tebartz van Elsta; et al. (2003). "Psychopathological profile in patients with severe bilateral hippocampal atrophy and temporal lobe epilepsy: evidence in support of the Geschwind syndrome?". Epilepsy & Behavior. 4 (3): 291–297. doi:10.1016/s1525-5050(03)00084-2. PMID 12791331. S2CID 34974937. Lay summary – specific symptoms that characterize the Geschwind syndrome like hypergraphia and hyposexuality might be pathogenically related to hippocampal atrophy.
24. ^ Rees, Peter M; Fowler, Clare J; Maas, Cornelis (2007). "Sexual function in men and women with neurological disorders". Lancet. 369 (9560): 512–25. doi:10.1016/s0140-6736(07)60238-4. PMID 17292771. S2CID 31719010.
25. ^ Devinsky, Orrin; Vorkas, Charles; Barr, William (2006). "Personality disorders in epilepsy". Psychiatric Issues in Epilepsy: A Practical Guide to Diagnosis and Treatment. Lippincott Williams & Wilkins. ISBN 978-0781785914.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
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*[DDD]: degenerative disc disease
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*[GHB]: γ-hydroxybutyric acid
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*[a.k.a.]: also known as
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*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
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*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Geschwind syndrome
|
None
| 25,260 |
wikipedia
|
https://en.wikipedia.org/wiki/Geschwind_syndrome
| 2021-01-18T18:43:17 |
{"icd-9": [], "icd-10": [], "wikidata": ["Q4420119"]}
|
## Description
Primary shunt hyperbilirubinemia (PSHB) is a rare form of clinical jaundice characterized by increased serum levels of unconjugated bilirubin associated with ineffective erythropoiesis and a hyperplastic bone marrow. Peripheral red blood cell survival is normal (summary by Wang et al., 2006). Although primary shunt hyperbilirubinemia is clinically similar to Gilbert syndrome (143500), affected individuals do not have impaired activity of UDP-glucuronosyltransferase (UGT1A1; 191740). The term 'shunt' refers to a 'shortcut' in bilirubin production, from the bone marrow or from very young red blood cells as opposed to being derived from the hemoglobin of mature circulating erythrocytes (Israels et al., 1959).
Clinical Features
Israels et al. (1959) reported a Mennonite family from southern Canada in which 3 sibs had onset of jaundice in the second decade of life, near the time of puberty. The patients were examined at ages 23, 16, and 26 years, respectively. All had jaundice, marked splenomegaly, spherocytes on peripheral blood smear, and increased reticulocytes; 2 had mild anemia. All had normal circulating red blood cell survival times. Bone marrow biopsies were hypercellular, with normoblastic hyperplasia. The 2 patients with mild anemia underwent splenectomy, which resulted in increased hemoglobin levels and a slight decrease in bilirubin levels, but the bilirubin levels remained above normal. A bilirubin tolerance test showed complete clearance within 3 hours in 1 sib, and 24 to 25% retention at 3 hours in the other 2 sibs. Glucuronide formation with hydroxyacetanilide was normal in 2 patients, indicating that they did not have a defect in UDP-glucuronosyltransferase. An unrelated woman from a neighboring village had a similar phenotype. At age 18 years, she presented with jaundice, anemia, spherocytes, and splenomegaly. She underwent splenectomy but continued to have anemia with increased reticulocytes and a hypercellular marrow. All patients had increased levels of urinary and fecal urobilinogen, also reflecting excess bilirubin accumulation. Liver biopsy of 2 patients showed iron accumulation. Israels et al. (1959) stated that the hyperbilirubinemia in all patients was far in excess of that expected from the hemoglobin level, reticulocyte count, and absence of peripheral erythrocyte destruction, suggesting another source of the bilirubin. Israels et al. (1959) provided a schematic diagram differentiating the condition in these patients from that of hemolytic jaundice and nonhemolytic jaundice due to a conjugation defect. The excess bilirubin in these patients was thought to derive from the bone marrow, directly from heme synthesis or from erythrocyte precursors. The condition should be suspected whenever fecal urobilinogen is markedly increased in the absence of signs of hemolysis. The parents of the sibs were unaffected, although the father reportedly had an episode of jaundice at age 12 years and had a mildly increased reticulocyte count. Israels et al. (1959) suggested that their patients might be related to those described by Kalk (1955) at Kassel, which is not far from Krefeld, formerly a German Mennonite center.
Hamer and Fitzgerald (1973) reported a 17-year-old boy who had mild icterus, splenomegaly, and mild reticulocytosis without anemia, suggesting compensated spherocytosis. Laboratory studies showed erythroid hyperplasia without morphologic abnormalities in the bone marrow and increased unconjugated bilirubin. Extensive cytogenetic and cell proliferation studies of marrow erythroid and myeloid cells showed that about 20% of cells were arrested at metaphase. Some of the chromosomes were highly condensed and degenerate, whereas some were threadlike with separated chromatids. The erythroid series showed a profound disturbance of the cell cycle, with increased numbers of cells in the G2 phase relative to those in S phase, but there was also accumulation of cells in the S phase. The findings suggested that DNA synthesis was interrupted before chromosome replication was completed. In contrast, late normoblasts were unaffected. Hamer and Fitzgerald (1973) hypothesized that intramedullary death of abnormal precursor erythroid cells led to compensatory increased hematopoiesis and a hyperplastic marrow. The destruction of a proportion of these cells results in increased early bilirubin production that characterizes primary shunt hyperbilirubinemia. The authors noted some similarities to congenital dyserythropoiesis (see, e.g., CDAN1, 224120).
Frank et al. (1979) reported a 21-year-old woman who had jaundice and anemia since birth. She had had numerous transfusions. At age 13, she had cholecystotomy due to gallstones and a splenectomy, which did not change the anemia or jaundice. She also had persistent amenorrhea. Physical examination showed hepatomegaly, and biopsy showed severe periportal fibrosis with iron deposition. Bone marrow aspirate showed erythroid hyperplasia and increased iron stores. Laboratory studies showed increased unconjugated bilirubin, fecal urobilinogen, and reticulocytosis. She was diagnosed with primary shunt hyperbilirubinemia with secondary hemochromatosis. Family history revealed a high frequency of jaundice, liver disease, cholecystectomy, and splenomegaly on the paternal side of the family. Her father and sister died with complications of hepatic failure and iron overload. All 3 patients also had severe arthritis, Frank et al. (1979) noted that secondary shunt hyperbilirubinemia is often associated with ineffective erythropoiesis in more common clinical disorders, such as thalassemia (see 613985) and pernicious anemia (261000).
Wang et al. (2006) reported a 4-generation Chinese family in which 9 individuals had primary shunt hyperbilirubinemia. At age 23 years, the proband developed fluctuating jaundice, anemia, and splenomegaly associated with increased serum unconjugated bilirubin levels and reticulocytes. Peripheral blood smear showed irregularly shaped erythrocytes, and bone marrow biopsy showed an erythroid hyperplasia. Family members showed a similar disorder, although 5 also had decreased white blood cell counts. Wang et al. (2006) hypothesized that the disorder results from abnormal development of the erythrocyte and intramedullary ineffective erythropoiesis.
Biochemical Features
Israels et al. (1963) provided evidence for the origin of shunt bilirubin, or bilirubin derived from the early breakdown of heme or its precursors. Their studies indicated that there are 2 components of early bilirubin production distinct from that derived from the normal turnover of peripheral red blood cells. Administration of radiolabeled glycine and delta-aminolevulinic acid, both precursors of heme, to dogs and humans resulted in early appearance of labeled shunt bilirubin at about 1 day and at about 3 to 4 days, respectively. The first peak was not dependent on marrow erythropoietic heme synthesis and may have been formed directly from heme precursors, whereas the second peak was dependent on heme synthesis in the marrow and may be derived from newly-formed erythroblasts.
Inheritance
The transmission pattern of shunt hyperbilirubinemia in the family reported by Wang et al. (2006) was consistent with autosomal dominant inheritance.
INHERITANCE \- Autosomal dominant ABDOMEN Liver \- Increased iron deposition seen on liver biopsy \- Hepatomegaly (less common) Spleen \- Splenomegaly SKIN, NAILS, & HAIR Skin \- Jaundice HEMATOLOGY \- Anemia, mild (in some patients) \- Increased reticulocytes \- Hypercellular bone marrow with erythroid hyperplasia \- Ineffective erythropoiesis \- Normal peripheral red blood cell survival time LABORATORY ABNORMALITIES \- Hyperbilirubinemia, unconjugated \- Increased excretion of urobilinogen MISCELLANEOUS \- Onset in childhood or adolescence ▲ 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
|
HYPERBILIRUBINEMIA, SHUNT, PRIMARY
|
c3550398
| 25,261 |
omim
|
https://www.omim.org/entry/237800
| 2019-09-22T16:26:52 |
{"omim": ["237800"]}
|
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs.
Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.
## Frequency
Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.
## Causes
Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals.
About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.
### Learn more about the gene associated with Incontinentia pigmenti
* IKBKG
## Inheritance Pattern
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti.
In males (who have only one X chromosome), most IKBKG mutations result in a total loss of the IKBKG protein. A lack of this protein appears to be lethal early in development, so few males are born with incontinentia pigmenti. Affected males who survive may have an IKBKG mutation with relatively mild effects, an IKBKG mutation in only some of the body's cells (mosaicism), or an extra copy of the X chromosome in each cell.
Some people with incontinentia pigmenti inherit an IKBKG mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Incontinentia pigmenti
|
c0021171
| 25,262 |
medlineplus
|
https://medlineplus.gov/genetics/condition/incontinentia-pigmenti/
| 2021-01-27T08:25:18 |
{"gard": ["6778"], "mesh": ["D007184"], "omim": ["308300"], "synonyms": []}
|
Part of series on
Anti-consumerism
Theories and ideas
* Affluenza
* Alternative culture
* Anti-capitalism
* Autonomous building
* Billboard hacking
* Bioeconomics
* Buddhist economics
* Buy Nothing Day
* Collaborative consumption
* Collapsology
* Commodification
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* Commons
* Commune
* Compulsive buying disorder
* Conspicuous consumption
* Consumer capitalism
* Consumerism
* Criticism of advertising
* Culture jamming
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* Do it yourself
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* Sustainable consumption
Notable works
* Walden
* The Theory of the Leisure Class
* Brave New World
* The Affluent Society
* One-Dimensional Man
* The Society of the Spectacle (book · film)
* The Consumer Society: Myths and Structures [fr]
* Steal This Book
* Small Is Beautiful
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* Future Primitive and Other Essays
* Fight Club (novel · film)
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* No Logo
* Profit over People: Neoliberalism
and Global Order
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See also
* Works about consumerism
* Advanced capitalism
* Advertising
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* Consumer behaviour
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* Consumption (sociology)
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* Cultural hegemony
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* Productivism
* Shopping
* Social movements
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* Sustainability
* Sweatshops
* Veblen good
* Workaholic
* v
* t
* e
Compulsive buying disorder (CBD), or oniomania (from Greek ὤνιος ṓnios "for sale" and μανία manía "insanity"[1]), is characterized by an obsession with shopping and buying behavior that causes adverse consequences. According to Kellett and Bolton,[2] compulsive buying "is experienced as an irresistible–uncontrollable urge, resulting in excessive, expensive and time-consuming retail activity [that is] typically prompted by negative affectivity" and results in "gross social, personal and/or financial difficulties".[2] Most people with CBD meet the criteria for a personality disorder. Compulsive shopping is classified by ICD-10 (F63.8) as an "impulse control disorder, not otherwise classified." Several authors consider compulsive shopping rather as a variety of dependence disorder.[3]
## Contents
* 1 History
* 2 Characteristics
* 3 Distinctions
* 4 Causes
* 5 Materialism and image seeking
* 6 Symptoms and course
* 7 Consequences
* 8 Treatment
* 9 Historical examples
* 10 Gear Acquisition Syndrome (G.A.S.)
* 11 See also
* 12 References
* 13 Further reading
* 14 External links
## History[edit]
According to German physician Max Nordau, French psychiatrist Valentin Magnan coined the term "oniomania" in the 1892 German translation of his Psychiatric Lectures (Psychiatrische Vorlesungen).[4] Magnan describes compulsive buying as a symptom of degeneration.[5] In his book Degeneration (1892), Nordau calls oniomania or "buying craze" a "stigma of degeneration".[6] Emil Kraepelin described oniomania as of 1909,[7] and he and Bleuler both included the syndrome in their influential early psychiatric textbooks.[8] However, little interest was taken in CBD until the 1990s,[9] and, even in the 21st century, compulsive shopping can be considered a barely recognised mental illness.[10]
## Characteristics[edit]
CBD is frequently comorbid with mood, anxiety, substance abuse and eating disorders. People who score highly on compulsive buying scales tend to understand their feelings poorly and have low tolerance for unpleasant psychological states such as negative moods.[11] Onset of CBD occurs in the late teens and early twenties and is generally chronic. Compulsive buying disorder usually mainly affected young people as several reports put in that most interviewees reported to be in the range of 17.5-19 years. The phenomenon of compulsive buying tends to affect women rather than men. The aforementioned reports on this matter indicated that the dominance of the majority group is so great that it accounts for about more than 90% of the affected demographic.[12] Zadka and Olajossy, suggest the presence of several similar tendencies between consumer type mannerism and pathologic consumption of psychoactive elements. These tendencies include a constant need to consume, personal dependence, and an affinity to lack of sense of control over self-behavior.[13] Additionally, Zadka and Olajossy stated that one could conclude that individuals ailing from this disorder are often in the second decade to fourth decade of their lives and exhibit mannerisms akin to neurotic personality and impulse control disorders.[14]
CBD is similar to, but distinguished from, OCD hoarding and mania. Compulsive buying is not limited to people who spend beyond their means; it also includes people who spend an inordinate amount of time shopping or who chronically think about buying things but never purchase them. Promising treatments for CBD include medication such as selective serotonin reuptake inhibitors (SSRIs), and support groups such as Debtors Anonymous.[15] [16][17][18]
Research revealed that 1.8 to 8.1 percent of the general adult population have CBD and that while the usual onset is late adolescence or early adulthood, it is often recognized as a problem later in life.[19]
## Distinctions[edit]
Compulsive Buying Disorder is tightly associated with excessive or poorly managed urges related to the purchase of the items and spending of currency in any form; digital, mobile, credit or cash.[20]
Four phases have been identified in compulsive buying: anticipation, preparation, shopping, and spending. The first phase involves a preoccupation with purchasing a specific item or with shopping in general. The second phase the individual plans the shopping excursion. The third phase is the actual shopping event; while the fourth phase is completed by the feelings of excitement connected to spending money on their desired items. [21]
The terms compulsive shopping, compulsive buying, and compulsive spending are often used interchangeably, but the behaviors they represent are in fact distinct. [22] One may buy without shopping, and certainly shop without buying: of compulsive shoppers, some 30 percent described the act of buying itself as providing a buzz, irrespective of the goods purchased.[23]
## Causes[edit]
CBD often has roots in early experience. Perfectionism, general impulsiveness and compulsiveness, dishonesty, insecurity, and the need to gain control have also been linked to the disorder.[24][25] From a medical perspective, it can be concluded that impulsive control disorder is attributed to the yearning of positive stimulus.[14] The normal method of operation in a healthy brain is that the frontal cortex regulation handles the activity of rewarding. However, in individual with behavior disorders, this particular system malfunctions. Scientists reported compulsive buyers have significant changeable activity in this area of the brain.[14]
Compulsive buying seems to represent a search for self in people whose identity is neither firmly felt nor dependable, as indicated by the way purchases often provide social or personal identity-markers. [26] Those with associated disorders such as anxiety, depression and poor impulse control are particularly likely to be attempting to treat symptoms of low self-esteem through compulsive shopping.[27]
Others, however, object that such psychological explanations for compulsive buying do not apply to all people with CBD.[28]
Social conditions also play an important role in CBD, the rise of consumer culture contributing to the view of compulsive buying as a specifically postmodern addiction, particularly with regard to internet buying platforms.[29]
Readily available credit cards enable casual spending beyond one's means, and some would suggest that the compulsive buyer should lock up or destroy credit cards altogether.[30] Online shopping also facilitates CBD, with online auction addiction, used to escape feelings of depression or guilt, becoming a recognizable problem.[31]
What differentiates CBD from healthy shopping is the compulsive, destructive and chronic nature of the buying. Where shopping can be a positive route to self-expression, in excess it represents a dangerous threat.[32]
## Materialism and image seeking[edit]
A social psychological perspective suggests that compulsive buying may be seen as an exaggerated form of a more normal search for validation through purchasing.[33] Also, pressures from the spread of materialist values and consumer culture over the recent decades can drive people into compulsive shopping.[34]
Companies have adopted aggressive neuromarketing by associating the identification of a high social status with the purchasing of items. They strive to bring out such an individual as a sort of folk hero for having the ability to buy several items. As a result, according to Zadka and Olajossy, the act of shopping is then associated with the feeling of being of a higher social status or that of one climbing the social ranks. Zadka holds that these companies are taking advantage the frailties of peoples’ egos in an attempt to get them to spend their money.[14]
## Symptoms and course[edit]
Diagnostic criteria for compulsive buying have been proposed:
1\. Over-preoccupation with buying.
2\. Distress or impairment as a result of the activity.
3\. Compulsive buying is not limited to hypomanic or manic episodes.[35]
4\. Constant obsessing with buying as well as being dissatisfied all the time.
While initially triggered by a perhaps mild need to feel special, the failure of compulsive shopping to actually meet such needs may lead to a vicious cycle of escalation,[36] with sufferers experiencing the highs and lows associated with other addictions.[37] The 'high' of the purchasing may be followed by a sense of disappointment, and of guilt,[38] precipitating a further cycle of impulse buying.[39][40] With the now addicted person increasingly feeling negative emotions like anger and stress, they may attempt to self-medicate through further purchases,[41] followed again by regret or depression once they return home,[42] leading to an urge for buying more. The aforementioned symptoms are aggravated further by the availability of money through access to credit cards and easy bank loans.[43]
As debt grows, the compulsive shopping may become a more secretive act.[37] At the point where bought goods are hidden or destroyed, because the person concerned feels so ashamed of their addiction, the price of the addiction in mental, financial and emotional terms becomes even higher.[44]
Individuals who can be considered addicted to shopping are observed to exhibit repetitive and obsessive urges to go buy items especially when in the vicinity of an environment that supports this venture such as a mall. In this locations, they mostly purchase things that are cheap and of low value mainly just to satisfy the urge to spend. Normally, these items end up being returned to the shop they were brought from or just disposed of entirely after a while. However, according to Zadka and Olajossy, this rarely works as these individuals are known to have low self-esteem.[14]
## Consequences[edit]
The consequences of compulsive buying, which may persist long after a spree, can be devastating, with marriages, long-term relationships, and jobs all feeling the strain.[45] Further problems can include ruined credit history, theft or defalcation of money, defaulted loans, general financial trouble and in some cases bankruptcy or extreme debt, as well as anxiety and a sense of life spiraling out of control.[46] The resulting stress can lead to physical health problems and ruined relationships, or even suicide.[47]
Additionally, the ingestion of medication to combat this disorder may lead to more problems. Further issues can come up, for instance; one may take in substances that they are allergic to thereby leading to unwanted developments. Also, Zadka and Olajossy state that it is quite easy for one to develop a tolerance toward these medication which will force the unfortunate individual to take a larger dosage which is detrimental to their health overall. They believe that 60% of patients who have been taking antiviral medication have experienced an occurrence of neuropsychiatric disorders.[14]
## Treatment[edit]
Treatment involves becoming conscious of the addiction through studying, therapy and group work. Research done by Michel Lejoyeux and Aviv Weinstein suggests that the best possible treatment for CBD is through cognitive behavioral therapy. They suggest that a patient first be "evaluated for psychiatric comorbidity, especially with depression, so that appropriate pharmacological treatment can be instituted." Their research indicates that patients who received cognitive behavioral therapy over 10 weeks had reduced episodes of compulsive buying and spent less time shopping as opposed to patients who did not receive this treatment (251).
Lejoyeux and Weinstein also write about pharmacological treatment and studies that question the use of drugs on CB. They declare "few controlled studies have assessed the effects of pharmacological treatment on compulsive buying, and none have shown any medication to be effective." (252) The most effective treatment is to attend therapy and group work in order to prevent continuation of this addiction.[48][49]
Hague et al. reports that group therapy rendered the highest results as far as treatment of compulsive buying disorder is concerned. He states that group therapy contributed to about 72.8% in positive change in the reduction of urges of compulsive spending. Additionally, he notes that psychotherapy may not be the treatment of choice for all compulsive buying disorder patients since the suitability of the treatment method to the patient is also an important consideration. He holds that the treatments of the disorder are required to provide a certain reflection of the context in which this phenomenon manifests. [50]
Selective serotonin reuptake inhibitors such as fluvoxamine and citalopram may be useful in the treatment of CBD, although current evidence is mixed.[51][52] Opioid antagonists such as naltrexone and nalmefene are promising potential treatments for CBD.[51] A review concluded that evidence is limited and insufficient to support their use at present, however.[53] Naltrexone and nalmefene have also shown effectiveness in the treatment of gambling addiction, an associated disorder.[53][54]
## Historical examples[edit]
* Mary Todd Lincoln was addicted to shopping, running up (and concealing) large bills on credit, feeling manic glee at spending sprees, followed by depressive reactions in the face of the results.[55]
* Alexandre De Richaud was part of the very first cases of online shopping addiction. This particular case has been studied by Professor Bratec in its PhD about BEP parties [56]
## Gear Acquisition Syndrome (G.A.S.)[edit]
Since the 1990s, the acronym G.A.S. ("Gear Acquisition Syndrome") is used in internet forums and magazines for musicians, audio engineers and photographers to denote compulsive accumulation of technical equipment. The acronym was coined by Steely Dan guitarist Walter Becker in a 1994 satirical Guitar Player magazine column titled "The Dreaded G.A.S.".[57] Describing a fellow guitarist's family room covered entirely with guitars, Becker speaks of "Guitar Acquisition Syndrome":
> You undoubtedly know someone who has it. Reading this rag, you probably have it yourself. Or will have it someday soon or would like to have it. You may think it's cool. But it's not cool. Not anymore. How many Strats do you need to be happy? How many Strat copies, each extensively modified to be able to produce the variations in tone that once would have required maybe four different guitars? How many knobs and switches does that Strat need?[58]
The acronym "G.A.S." was used on internet forums subsequently, replacing "guitar" with "gear".[59][60] A musicological study published in 2017 conducted an online survey among 418 electric guitar players inquiring their affliction with "G.A.S.". The study finds the main reason for compulsive gear acquisition among musicians to be the quest for stylistic flexibility.[61] "Gear acquisition syndrome" has been called an example of commodity fetishism.[62]
## See also[edit]
* Money disorders
* Underearners Anonymous
* Shopaholic (novels)
* Confessions of a Shopaholic (film)
## References[edit]
1. ^ OMD. (2000, March 5). Retrieved January 16, 2008, from http://cancerweb.ncl.ac.uk/cgi-bin/omd?oniomania
2. ^ a b Kellett S., Bolton J. V. (2009). "Compulsive buying : A cognitive-behavioural model". Clinical Psychology and Psychotherapy. 16 (2): 83–99. doi:10.1002/cpp.585. PMID 19229837.
3. ^ Croissant B, Croissant D (2007). "[Compulsive shopping--current considerations on classification and therapy]". Nervenarzt. 78 (5): 575–9. doi:10.1007/s00115-006-2214-8. PMID 17123121.
4. ^ Max Nordau [1892]: Entartung, Herausgegeben, kommentiert und mit einem Nachwort versehen von Karin Tebben, Berlin u.a.: De Gruyter 2013, p. 38.
5. ^ Valentin Magnan: Psychiatrische Vorlesungen, Bd. 2/3: Über die Geistesstörungen von Entarteten, transl. Otto Möbius, Leipzig: Thieme, p. 12 f.
6. ^ Nordau, Max Simon: Degeneration, 1895, p. 27, Internet Archive.
7. ^ Emil Kraepelin: Psychiatrie. Ein Lehrbuch für Studierende und Ärzte, Leipzig: Barth, S. 408 f.
8. ^ R. J. Frances et al., Clinical Textbook of Addictive Disorders (2005) p. 315
9. ^ BLACK, DONALD W (1 February 2007). "A review of compulsive buying disorder". World Psychiatry. 6 (1): 14–18. PMC 1805733. PMID 17342214.
10. ^ Jon E. Grant/S. W. Kim, Stop Me Because I Can't Stop Myself (2004) p. 16
11. ^ Rose, Paul; Segrist, Daniel J (June 2012). "Difficulty Identifying Feelings, Distress Tolerance and Compulsive Buying: Analyzing the Associations to Inform Therapeutic Strategies". International Journal of Mental Health and Addiction. 11 (1): 65–68. doi:10.1007/s11469-012-9389-y. ISSN 1557-1874. S2CID 8232261.
12. ^ "PsycNET". psycnet.apa.org. Retrieved 2019-06-22.
13. ^ "PsycNET". psycnet.apa.org. Retrieved 2019-06-22.
14. ^ a b c d e f Zadka, Łukasz; Olajossy, Marcin (2016). "Compulsive buying in outline". Psychiatria Polska. 50 (1): 153–164. doi:10.12740/PP/44010. ISSN 0033-2674. PMID 27086335.
15. ^ Hartston, Heidi J.; Koran, Lorrin M (June 2002). "Impulsive behavior in a consumer culture". International Journal of Psychiatry in Clinical Practice. 6 (2): 65–68. doi:10.1080/136515002753724045. ISSN 1471-1788. PMID 24931930. S2CID 21247136.
16. ^ Black, Donald W. (2001). "Compulsive Buying Disorder: Definition, Assessment, Epidemiology, and Clinical Management". CNS Drugs. 15 (1): 17–27. doi:10.2165/00023210-200115010-00003. ISSN 1172-7047. OCLC 30488303. PMID 11465011. S2CID 21073559.
17. ^ Black, Donald W. (February 2007). "A review of compulsive buying disorder". World Psychiatry. 6 (1): 14–18. ISSN 1723-8617. OCLC 55586799. PMC 1805733. PMID 17342214.
18. ^ Vyse, Stuart (2008). Going broke: why Americans can't hold on to their money. Oxford; New York: Oxford University Press. p. 28. ISBN 978-0-19-530699-6. OCLC 153773333.
19. ^ Abramowitz, Jonathan S.; Houts, Arthur C. (2006). Concepts and Controversies in Obsessive-Compulsive Disorder. New York: Springer Science+Business Media. p. 185. ISBN 038723280X.
20. ^ Hague B., Hall J., Kellett S. (2016). "Treatments for compulsive buying: A systematic review of the quality, effectiveness and progression of the outcome evidence". Journal of Behavioral Addictions. 5 (3): 379–394. doi:10.1556/2006.5.2016.064. PMC 5264404. PMID 27640529.CS1 maint: multiple names: authors list (link)
21. ^ Herron, Abigail J., Brennan, Tim K. eds. ASAM Essentials of Addiction Medicine, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; 2020.
22. ^ Nataraajan and Goff 1992)[page needed]
23. ^ Helga Dittmar, "Understanding and Diagnosing Compulsive Buying", in Robert H. Coombs, Handbook of Addictive Disorders (2004) p. 438
24. ^ April Lane Benson, I Shop Therefore I Am (2000)
25. ^ Donald Black, "A review of compulsive buying disorder" (2007).
26. ^ Aboujaourde/Koran, p. 8
27. ^ April Lane Benson/Marie Gengler, "Treating Compulsive Buying" in Coombs, p. 451
28. ^ Aboujaourde/Koran, p. 9
29. ^ Dittmar, p. 417
30. ^ Dennis Hayes, Beyond the Silicon Curtain (1989) p. 145
31. ^ Elen Lewis, The eBay Phenomenon (2008) p. 95
32. ^ April Lane Benson and Marie Gengler, "Treating Compulsive Buying", in Coombs, p. 452
33. ^ Helga Dittmar/Emma Halliwell, Consumer Culture, Identity and Well-being (2008) pp. 95-97
34. ^ Dittmar/Halliwell, p. 97
35. ^ Frances, p. 315
36. ^ Pamela Klaffke, Spree (2004) p. 185
37. ^ a b Klaffke, p. 185
38. ^ Lucy Costigan, Women and Healing (2006) p. 208
39. ^ Helga Dittmar, "Understanding and Diagnosing Compulsive Buying", in Robert H. Coombs, Handbook of Addictive Disorders (2004) p. 442
40. ^ Oliver James, Britain on the Couch (London 1998) p. 301
41. ^ Dittmar, p. 426
42. ^ Dittmar, p. 424
43. ^ Chakraborty, S.K.; Chakraborty, D. (2006). Culture, Society, And Leadership. ICFAI University Press. p. 196. ISBN 9788131401170.
44. ^ Catalano and Sonenberg, in Costigan, p. 208
45. ^ Klaffke, p. 430
46. ^ Bruno Zumo, Advances in quality of life research, 2001 (2002) p. 164
47. ^ Grant/Kim, p. 36
48. ^ Lejoyeux, Michel; Weinstein, Aviv (1 September 2010). "Compulsive Buying". The American Journal of Drug and Alcohol Abuse. 36 (5): 248–253. doi:10.3109/00952990.2010.493590. PMID 20560822. S2CID 207428225.
49. ^ Wood, Heather (2003). "In the News: Retail therapy". Nature Reviews Neuroscience. 4 (9): 700. doi:10.1038/nrn1211. S2CID 41985547.
50. ^ Hague, B; Hall, J; Kellett, S (2016). "Treatments for compulsive buying: A systematic review of the quality, effectiveness and progression of the outcome evidence". Journal of Behavioral Addictions. 5 (3): 379–394. doi:10.1556/2006.5.2016.064. PMC 5264404. PMID 27640529.
51. ^ a b Aboujaoude, Elias (2014). "Compulsive Buying Disorder: A Review and Update". Current Pharmaceutical Design. 20 (25): 4021–4025. doi:10.2174/13816128113199990618. ISSN 1381-6128. PMID 24001296.
52. ^ Black DW (2007). "A review of compulsive buying disorder". World Psychiatry. 6 (1): 14–8. PMC 1805733. PMID 17342214.
53. ^ a b Piquet-Pessôa, Marcelo; Fontenelle, Leonardo F. (2016). "Opioid Antagonists In Broadly Defined Behavioral Addictions: A Narrative Review". Expert Opinion on Pharmacotherapy. 17 (6): 1–10. doi:10.1517/14656566.2016.1145660. ISSN 1465-6566. PMID 26798982. S2CID 20831064.
54. ^ Yip, Sarah W.; Potenza, Marc N. (2014). "Treatment of Gambling Disorders". Current Treatment Options in Psychiatry. 1 (2): 189–203. doi:10.1007/s40501-014-0014-5. ISSN 2196-3061. PMC 4041397. PMID 24904757.
55. ^ D. K. Goodwin, Team of Rivals (2013) p. 305, 401-2 and 681-2
56. ^ The new web hypnosis (2019) p. 98-115
57. ^ Walter Becker: "The Dreaded G.A.S.", in: Guitar Player, April 1994, p. 15.
58. ^ "G.A.S. Attack".
59. ^ "Google Groups".
60. ^ Power, Rob; April 2015, Matt Parker 01. "7 stages of Gear Acquisition Syndrome". MusicRadar. Retrieved 2020-07-14.
61. ^ Jan-Peter Herbst: "'Gear Acquisition Syndrome': A Survey of Electric Guitar Players", in: Julia Merill (ed.): Popular Music Studies Today. Proceedings of the International Association for the Study of Popular Music 2017, Wiesbaden: Springer 2017, pp. 139–148.
62. ^ Annetts, Alex (2015) Masculinity and gear fetishism in audio technology community discourse. Doctoral thesis, Anglia Ruskin University, p. 5.
## Further reading[edit]
* Benson, A. To Buy or Not to Buy: Why We Overshop and How to Stop Boston: Trumpeter Books, 2008.
* Black D.W. (2007). "A review of compulsive buying disorder". World Psychiatry. 6 (1): 14–18. PMC 1805733. PMID 17342214.
* Bleuler, E. Textbook of Psychiatry. New York: Macmillan, 1924.
* Catalano E. and Sonenberg, N. Consuming Passions: Help for Compulsive Shoppers. Oakland: New Harbinger Publications, 1993.
* DeSarbo WS, Edwards EA (1996). "Typologies of Compulsive Buying Behavior: A Constrained Cluster-Wise Regression Approach". Journal of Consumer Psychology. 5 (3): 231–252. doi:10.1207/s15327663jcp0503_02. S2CID 144637994.CS1 maint: uses authors parameter (link)
* Elliott R (1994). "Addictive Consumption: Function and Fragmentation in Postmodernity". Journal of Consumer Policy. 17 (2): 159–179. doi:10.1007/bf01016361. S2CID 143240695.
* Faber R. J.; O'Guinn T. C.; Krych R. (1987). "Compulsive Consumption". Advances in Consumer Research. 14: 132–135.
* Kraepelin, E. Psychiatrie (8th ed.). Leipzig: Verlag von Johann Ambrosius Barth, 1915.
* McElroy, SL, Phillips KA, Keck PE, Jr. 1994 "Obsessive Compulsive Spectrum Disorder." Journal of Clinical Psychiatry 55(10, suppl): 33-51
* Nataraajan R., Goff B. (1992). "Manifestations of Compulsiveness in the Consumer-Marketplace Domain". Psychology and Marketing. 9 (1): 31–44. doi:10.1002/mar.4220090105.
* Ridgway NM, Kukar-Kinney M, Monroe K (2008). "An expanded conceptualization and a new measure of compulsive buying". Journal of Consumer Research. 35 (4): 350–406. doi:10.1086/591108. S2CID 3048670.CS1 maint: uses authors parameter (link)
* Lam, Simon Ching; Chan, Zoe Sze-Long; Chong, Andy Chun-Yin; Wong, Wendy Wing-Chi; Ye, Jiawen (September 2018). "Adaptation and validation of Richmond Compulsive Buying Scale in Chinese population" (PDF). Journal of Behavioral Addictions. 7 (3): 760–769. doi:10.1556/2006.7.2018.94. PMC 6426376. PMID 30264602.
## External links[edit]
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*[c.]: circa
*[AA]: Adrenergic agonist
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|
Compulsive buying disorder
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c0520949
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wikipedia
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https://en.wikipedia.org/wiki/Compulsive_buying_disorder
| 2021-01-18T18:55:11 |
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|
Li–Fraumeni syndrome
Other namesSarcoma family syndrome of Li and Fraumeni
Li–Fraumeni syndrome is inherited via an autosomal dominant manner
SpecialtyOncology, medical genetics, neurology
Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder[1] that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients.[2] This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.
The syndrome is linked to germline mutations of the p53 tumor suppressor gene,[3] which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from mutations early in embryogenesis, or in one of the parent's germ cells.
## Contents
* 1 Presentation
* 2 Pathology
* 2.1 Clinical
* 3 Diagnosis
* 4 Management
* 4.1 Chompret criteria
* 4.2 Recommendations
* 4.3 Suggestions
* 5 Epidemiology
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Presentation[edit]
Li–Fraumeni syndrome is characterized by early onset of cancer, a wide variety of types of cancers, and development of multiple cancers throughout one's life.[4]
## Pathology[edit]
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LFS1: Mutations in TP53
* Normal conditions:[citation needed] TP53 is a tumor suppressor gene on chromosome 17 that normally assists in the control of cell division and growth through action on the normal cell cycle. TP53 typically become expressed due to cellular stressors, such as DNA damage, and can halt the cell cycle to assist with either the repair of repairable DNA damage, or can induce apoptosis of a cell with irreparable damage. The repair of "bad" DNA, or the apoptosis of a cell, prevents the proliferation of damaged cells.[citation needed]
* Mutant conditions: Mutations of TP53 can inhibit its normal function, and allow cells with damaged DNA to continue to divide. If these DNA mutations are left unchecked, some cells can divide uncontrollably, forming tumors (cancers). Further mutations in the DNA could lead to malignant cells that can travel to, and develop cancer in, different areas of the body. Many individuals with Li–Fraumeni syndrome have been shown to be heterozygous for a TP53 mutation. Recent studies have shown that 60% to 80% of classic LFS families harbor detectable germ-line TP53 mutations, the majority of which are missense mutations in the DNA-binding domain.[5] These missense mutations cause a decrease in the ability of p53 to bind to DNA, thus inhibiting the normal TP53 mechanism.
* Unique Brazilian mutation: Although other mutations leading to Li–Fraumeni syndrome have been found outside the DNA-binding domain, a mutation at codon 337 of the tetramerization domain of TP53 has shown a particularly high frequency. The tetramerization domain plays a major role in the oligomerization of the p53 protein, which exists as a tetramer.[6] This mutation has only been found in Brazilian families, and is located in exon 10 of the TP53 gene. The mutation causes an amino acid change from arginine to histidine at codon 337. With pH in the low to normal physiological range (up to 7.5), the mutant protein forms normal oligomers and retains its suppressor function.[5] However, at a high physiological pH, p53 is unable to assemble into a tetramer.[5] This unique feature may contribute to why families with this particular mutation often show incomplete penetrance.[citation needed]
* Dominant negative mutations: Most individuals with Li–Fraumeni syndrome are heterozygous for a mutant TP53 gene, and some p53 mutants can inhibit the function of the wild-type p53 in a dominant negative manner. Mutated p53 proteins are typically more stable than wild-type, and can inhibit the activity of the wild-type protein in suppressing cell proliferation and in inducing cell cycle arrest.[7] Due to the mutant p53 being able to inhibit some wild-type p53, damaged cells are at an even greater susceptibility to proliferate and become transformed, resulting in cancer.
LFS2: mutations in CHEK2
Another variant of Li–Fraumeni that remains somewhat controversial, is a mutation of the CHEK2 (or CHK2) gene.[5] CHK2 is also a tumor suppressor gene; it regulates the action of p53 and is activated by ATM, which detects DNA damage, and in this way, DNA damage information can be conveyed to p53 to indirectly arrest the cell cycle at that point for DNA repair to be able to take place or to cause apoptosis (programmed cell death).
LFS-L:
Families who do not conform to the criteria of classical Li–Fraumeni syndrome have been termed "LFS-like".[5] LFS-like individuals generally do not have any detectable p53 mutations, and tend to be diagnosed on either the Birch or Eeles criteria.
A third locus has been mapped to the long arm of chromosome 1 (1q23), but no gene has yet been identified.[citation needed]
Another locus that has been linked to this syndrome is CDKN2A-CDKN2B.[8]
### Clinical[edit]
The classical LFS malignancies - sarcoma, cancers of the breast, brain, and adrenal glands - comprise about 80% of all cancers that occur in this syndrome.
The risk of developing any invasive cancer (excluding skin cancer) is about 50% by age 30 (1% in the general population) and is 90% by age 70. Early-onset breast cancer accounts for 25% of all the cancers in this syndrome. This is followed by soft-tissue sarcomas (20%), bone sarcoma (15%), and brain tumors - especially glioblastomas \- (13%). Other tumours seen in this syndrome include leukemia, lymphoma, and adrenocortical carcinoma.
About 90% of females with LFS develop breast cancer by age 60 years; the majority of these occur before age 45 years. Females with this syndrome have almost a 100% lifetime risk of developing cancer. This compares with 73% for affected males. The difference may be due to much smaller breast tissue in males and increased estrogen levels in females.
The risks of sarcoma, female breast cancer, and haematopoietic malignancies in mutation carriers are more than 100 times greater than those seen in the general population.
Other tumours reported in this syndrome, but not yet proved to be linked with it, include melanoma, Wilms' and other kidney tumors, hepatocellular carcinoma, gonadal germ cell, pancreatic, gastric, choroid plexus, colorectal, and prostate cancers.
Around 80% of children with adrenocortical carcinoma and 2–10% of childhood brain tumors have p53 mutations. About 2-3% of osteosarcomas, 9% of rhabdomyosarcomas, and 7-20% of patients with multiple primary tumours have p53 mutations.
Although most cases of this syndrome have early onset of cancer, cases have also been reported later in life.[9]
## Diagnosis[edit]
Li–Fraumeni syndrome is diagnosed if these three criteria are met:
* The patient has been diagnosed with a sarcoma at a young age (below 45).
* A first-degree relative has been diagnosed with any cancer at a young age (below 45).
* Another first- or a second-degree relative has been diagnosed with any cancer at a young age (below 45) or with a sarcoma at any age.[citation needed]
Other criteria have also been proposed:[10]
* A proband with any childhood cancer or sarcoma, brain tumor or adrenal cortical carcinoma diagnosed before age 45
* A first- or second-degree relative with a typical LFS malignancy (sarcoma, leukaemia, or cancers of the breast, brain or adrenal cortex) regardless of age at diagnosis
* A first- or second-degree relative with any cancer diagnosed before age 60
A third criterion has been proposed:[11]
* Two first- or second-degree relatives with LFS-related malignancies at any age.[verification needed]
## Management[edit]
Genetic counseling and genetic testing are used to confirm that somebody has this gene mutation.[citation needed] Once such a person is identified, early and regular screenings for cancer are recommended for him or her as people with Li–Fraumeni are likely to develop another primary malignancy at a future time (57% within 30 years of diagnosis).[citation needed]
### Chompret criteria[edit]
A 2015 revision of the traditional Chompret criteria for screening has been proposed - a proband who has:[12]
* A tumor belonging to LFS tumor spectrum (e.g., premenopausal breast cancer, soft tissue sarcoma, osteosarcoma, CNS tumor, adrenocortical carcinoma) before age 46 years, and at least one first- or second-degree relative with LFS tumor (except breast cancer if the proband has breast cancer) before age 56 years or with multiple tumors at any age
* Multiple tumors (except multiple breast tumors), two of which belong to LFS spectrum with the initial cancer occurring before the age of 46 years
* An adrenocortical carcinoma, choroid plexus tumor, or rhabdomyosarcoma of embryonal anaplastic subtype, at any age of onset, irrespective of family history
* Breast cancer before age 31
### Recommendations[edit]
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Recommendations for individuals from families affected by the syndrome include:[citation needed]
* Avoidance of radiation therapy to reduce risk of secondary radiation-induced malignancies
* Children and adults undergo comprehensive annual physical examination
* Women undergo age-specific breast cancer monitoring beginning at age 25 years
* All patients consult a physician promptly for evaluation of lingering symptoms and illnesses
### Suggestions[edit]
* Adults should undergo routine screening for colorectal cancer beginning no later than age 25 years.
* Individuals should undergo organ-targeted surveillance based on the pattern of cancer observed in their families.
* Prophylactic mastectomy to reduce the risk of breast cancer is an option.
## Epidemiology[edit]
Li–Fraumeni syndrome (LFS) is relatively rare;[clarification needed] as of 2011, cases had been reported in more than 500 families.[5] The syndrome was discovered using an epidemiological approach. Li and Fraumeni identified four families in which siblings or cousins of rhabdomyosarcoma patients had a childhood sarcoma, which suggested a familial cancer syndrome.[13][14] Identification of TP53s the gene affected by mutation was suggested by the same approach. Over half of the cancers in LFS families had been previously associated with inactivating mutations of the p53 gene and in one primary research study, DNA sequencing in samples taken from five Li–Fraumeni syndrome families showed autosomal dominant inheritance of a mutated TP53 gene.[13][14][non-primary source needed]
## See also[edit]
* OSLAM syndrome
## References[edit]
1. ^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors". J. Clin. Oncol. 31 (20): 2619–26. doi:10.1200/JCO.2012.46.3711. PMC 3808236. PMID 23733769.
2. ^ Li F.P.; Fraumeni J.F. (October 1969). "Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?". Ann. Intern. Med. 71 (4): 747–52. doi:10.7326/0003-4819-71-4-747. PMID 5360287. S2CID 7540982.
3. ^ Varley J.M. (March 2003). "Germline TP53 mutations and Li-Fraumeni syndrome". Hum. Mutat. 21 (3): 313–20. doi:10.1002/humu.10185. PMID 12619118.
4. ^ Hisada, M.; Garber, J. E.; Li, F. P.; Fung, C. Y.; Fraumeni, J. F. (1998). "Multiple Primary Cancers in Families With Li-Fraumeni Syndrome". Journal of the National Cancer Institute. 90 (8): 606–611. doi:10.1093/jnci/90.8.606. PMID 9554443.
5. ^ a b c d e f Malkin, D. (2011). "Li-Fraumeni Syndrome". In Levine, Arnold J. (ed.). Genes and Cancer. Genes & Cancer. 2. pp. 475–484. doi:10.1177/1947601911413466. PMC 3135649. PMID 21779515.
6. ^ Chène, P. (2001). "The Role of Tetramerization in p53 function". Oncogene. 20 (21): 2611–2617. doi:10.1038/sj.onc.1204373. PMID 11420672.
7. ^ Willis, Amy; Jung, Eun Joo; Wakefield, Therese; Chen, Xinbin (2004). "Mutant p53 Exerts a Dominant Negative Effect by Preventing Wild-Type p53 from Binding to the Promoter of its Target Genes". Oncogene. 23 (13): 2330–2338. doi:10.1038/sj.onc.1207396. PMID 14743206.[non-primary source needed]
8. ^ Chan SH, Lim WK, Michalski ST, Lim JQ, Ishak NDB, Met-Domestici M, Young CNC, Vikstrom K, Esplin ED, Fulbright J, Ang MK, Wee J, Sittampalam K, Farid M, Lincoln SE, Itahana K, Abdullah S, Teh BT, Ngeow J (2016) Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome. NPJ Genom Med 1:16015. doi: 10.1038/npjgenmed.2016.15.
9. ^ Cho, Yonggeun; Kim, Juwon; Kim, Yoonjung; Jeong, Joon; Lee, Kyung-A (2013). "A Case of Late-Onset Li-Fraumeni-like Syndrome with Unilateral Breast Cancer". Annals of Laboratory Medicine. 33 (3): 212–6. doi:10.3343/alm.2013.33.3.212. PMC 3646199. PMID 23667851.[non-primary source needed]
10. ^ Birch JM, Hartley AL, Tricker K, Prosser J, Condie A, Kelsey A, Harries M, Jones P, Binchy A, Crowther D, Craft A, Eden O, Evans D, Thompson E, Mann J, Martin J, Mitchell E, Santibanez-Koref M (1994). "Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families". Cancer Research. 54 (5): 1298–304. PMID 8118819.[non-primary source needed]
11. ^ Eeles, R. (1995). "Germline mutations in the TP53 gene". Cancer Surveys. 25: 101–124. PMID 8718514.
12. ^ Bougeard, G., Renaux-Petel, M., Flaman, J. M., Charbonnier, C., Fermey, P., Belotti, M., … Frebourg, T. (2015). Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. Journal of Clinical Oncology, 33(21), 2345–2352. https://doi.org/10.1200/JCO.2014.59.5728
13. ^ a b Malkin, D.; Li, F.P.; Strong, L.C.; Fraumeni Jr, J.F.; Nelson, C.E.; Kim, D.H.; Kassel, J.; Gryka, M.A.; Bischoff, F.Z. Tainsky, M.A.; et al. (1990). "Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms". Science. 250 (4985): 1233–1238. Bibcode:1990Sci...250.1233M. doi:10.1126/science.1978757. PMID 1978757.CS1 maint: multiple names: authors list (link)[non-primary source needed]
14. ^ a b Malkin D. & Friend, S.H. (1993). "Correction: a Li-Fraumeni syndrome p53 mutation. Erratum for "Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms"". Science. 259 (5097): 878. doi:10.1126/science.8438145. PMID 8438145.
## Further reading[edit]
* Li-Fraumeni Syndrome Association (LFS Association / LFSA) is a non-profit, patient advocacy organization that provides patient and research support, and education, globally. Reference https://www.lfsassociation.org/ for more information and resources.
* The George Pantziarka TP53 Trust is the UK Li Fraumeni Syndrome patient support and advocacy organisation.
* Li–Fraumeni syndrome, in the National Library of Medicine Genetics Home Reference (an introduction to the disease)
* Li–Fraumeni Syndrome by Katherine A Schneider and Frederick Li, in GeneReviews, a section of GeneTests, published online by the University of Washington with funds from the National Institutes of Health
* Li–Fraumeni syndrome; LFS1, entry in Online Mendelian Inheritance in Man (OMIM), published by Johns Hopkins University and the National Institutes of Health
## External links[edit]
Classification
D
* ICD-9-CM: 758.3
* OMIM: 151623
* MeSH: D016864
* DiseasesDB: 7450
External resources
* eMedicine: ped/1305
* Orphanet: 524
* v
* t
* e
Metabolic disease: DNA replication and DNA repair-deficiency disorder
DNA replication
* Separation/initiation: RNASEH2A
* Aicardi–Goutières syndrome 4
* Termination/telomerase: DKC1
* Dyskeratosis congenita
DNA repair
Nucleotide excision repair
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MSI/DNA mismatch repair
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Other
* RecQ helicase
* Bloom syndrome
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* Rothmund–Thomson syndrome/Rapadilino syndrome
* Fanconi anemia
* Li-Fraumeni syndrome
* Severe combined immunodeficiency
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
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* Kennedy's disease
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2.2
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2.3
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2.5
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(3) Helix-turn-helix domains
3.1
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3.2
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3.3
* FOXC1
* Axenfeld syndrome 3
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* FOXC2
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* FOXE1
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* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
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* FOXL2
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* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and 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
|
Li–Fraumeni syndrome
|
c0085390
| 25,264 |
wikipedia
|
https://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome
| 2021-01-18T19:02:19 |
{"gard": ["6902"], "mesh": ["D016864"], "umls": ["C0085390"], "orphanet": ["524"], "wikidata": ["Q187542"]}
|
A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.
## Epidemiology
Approximately 200 cases have been reported in the literature to date. It comprises up to a third of bilateral acute onset acute uveitis in patients younger than 20 years old. Females are predominantly affected with a female:male ratio of 2.5-5:1.
## Clinical description
Presentation is typically in children and adolescents (median age of onset of 15 years old) with either uveitis or tubulointerstitial nephritis. Symptoms of renal involvement are non-specific and can include polyuria/polydipsia, fever, general malaise, abdominal and flank pain, fatigue, arthralgia, myalgia or a non-specific rash. Ocular signs are eye pain and redness, loss of visual acuity and photophobia, though almost 60% of patients with confirmed uveitis present no symptoms. Uveitis is typically bilateral and anterior, but intermediate or posterior uveitis may occur. Of note, uveitis and TIN may occur synchronously or metachronously.
## Etiology
The pathogenesis is unclear, but likely autoimmune in origin. The role of the cellular and humoral immunity is highlighted by studies demonstrating loss of T cell-tolerance and the presence in kidney and ocular tissue of antibodies against modified C-reactive protein. Certain HLA haplotypes are associated with a higher risk of the disease.
## Diagnostic methods
There are no specific non-invasive tests to establish the diagnosis. Diagnosis should be suspected in patients with polyuria/polydipsia, rise in serum creatinine, elevated markers of tubular damage (such as low-molecular weight proteins), elevated urinary eosinophils, anemia and elevated erythrocyte sedimentation rate. A definitive diagnosis can be established by renal biopsy.
## Differential diagnosis
Differential diagnoses should include secondary causes of tubulointerstitial nephritis and uveitis, such as infections (ex. TBC, viral infections as EBV or HIV, bacterial infections as chlamydia or mycoplasma; toxoplasmosis, brucellosis, histoplasmosis), granulomatous diseases as sarcoidosis, Sjögren syndrome, ELS, Wegener's granulomatosis and other as Behcet's disease, ankylosing spondylitis and inflammatory bowel diseases. The renal phenotype can be similar to nephronophthisis, which can also be associated with eye manifestations, albeit not in the form of uveitis.
## Management and treatment
Treatment is typically with immunosuppression. Oral corticosteroids are the first line therapy and improvement in symptoms is typically seen within days to weeks of commencement. Use of other immunosuppressive therapies, such as cyclophosphamide, cyclosporine, methotrexate or mycophenolate mofetil has been reported. Topical corticosteroids are useful for TINU-associated uveitis. A careful ophthalmological follow-up is required to monitor possible long-term complications.
## Prognosis
Prognosis is favorable as the disease resolves in most of patients. However, some cases progress to end-stage renal disease. There is a low risk of visual loss; however, ocular complications (such as posterior synechiae, cystoid macular edema, disc edema, elevated intraocular pressure and cataract) have been described in 20% of patients.
* 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
|
Tubulointerstitial nephritis and uveitis syndrome
|
c1843273
| 25,265 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91500
| 2021-01-23T18:32:24 |
{"gard": ["9252"], "mesh": ["C536922"], "omim": ["607665"], "umls": ["C1639520", "C1843273", "C2609298"], "icd-10": ["N10"], "synonyms": ["Acute tubulointerstitial nephritis and uveitis syndrome", "Dobrin syndrome", "TINU syndrome"]}
|
## Clinical Features
Sorge et al. (1997) observed 4 members of a family coming from Palagonia, a small Sicilian village, with an apparently unreported form of acrofacial dysostosis. They compared the disorder with another acrofacial dysostosis (AFD) described in Sicily and referred to as the Catania type (101805). In contradistinction to Catania AFD, the 4 patients with the Palagonia form were of normal intelligence, and instead of extensive caries had oligodontia (in all 4), short stature (in 3), frizzy hair (pili torti) with aplasia cutis verticis (in 1), mild cutaneous syndactyly of digits 2-5 (in all 4), attenuation of the fourth metacarpal (in 3 of 3 with metacarpophalangeal profiles), unilateral cleft lip (in 1) and some vertebral anomalies such as a large atlas (in 1), mild scoliosis (in 1), small odontoid process, and spina bifida occulta at S1 (in 1). They suggested this may be an 'iceberg' dominant disorder, by which they meant that the severely affected proposita had brought the condition to attention.
Inheritance
Although X-linked dominant inheritance was possible for this form of acrofacial dysostosis, Sorge et al. (1997) favored autosomal dominant inheritance.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Face \- Prominent forehead Eyes \- Sparse eyebrows Mouth \- Malar hypoplasia \- Cleft lip, unilateral (in some patients) Teeth \- Oligodontia SKELETAL Spine \- Large atlas (in some patients) \- Scoliosis, mild (in some patients) \- Small odontoid process (in some patients) \- Spina bifida occulta (in some patients) Hands \- Cutaneous syndactyly (digits 2-5) \- Attenuation of fourth metacarpal SKIN, NAILS, & HAIR Hair \- Pili torti (in some patients) \- Aplasia cutis verticis (in some patients) MISCELLANEOUS \- One family has been reported, a mother and 3 children ▲ 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
|
ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
|
c1866168
| 25,266 |
omim
|
https://www.omim.org/entry/601829
| 2019-09-22T16:14:12 |
{"doid": ["0060385"], "mesh": ["C538185"], "omim": ["601829"], "orphanet": ["1787"]}
|
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: "Diffuse intrinsic pontine glioma" – news · newspapers · books · scholar · JSTOR (May 2017)
Magnetic resonance imaging of a diffuse intrinsic pontine glioma.
Biopsy sample from a diffuse intrinsic pontine glioma.
Magnetic resonance spectroscopy of a diffuse intrinsic pontine glioma showing elevated choline and creatine peaks with a decreased NAA peak.
A diffuse intrinsic pontine glioma (DIPG) is a tumour located in the pons (middle) of the brain stem. Glioma is a general name for any tumour that arises from the supportive tissue called glia, which help keep the neurons in place and functioning well. DIPG is a brainstem glioma. The brain stem is the bottommost portion of the brain, connecting the cerebrum with the spinal cord. The majority of brain stem tumours occur in the pons and are diffusely infiltrating (they grow amidst the nerves), and therefore cannot be surgically removed. The brain stem contains all of the incoming neurons within the spinal cord, as well as important structures involved in eye movements and in face and throat muscle control and sensation.[1][2]
## Contents
* 1 Diagnosis
* 2 Treatment
* 2.1 Neurosurgery
* 2.2 Radiotherapy
* 2.3 Chemotherapy and other drug therapies
* 3 Prognosis
* 4 Research
* 5 Prominent patients
* 6 References
## Diagnosis[edit]
Like for most brainstem tumors, diagnosing diffuse intrinsic pontine glioma usually involves non-invasive brain imaging like MRI, in addition to neurologic physical exam. Biopsies and other procedures are very uncommon. Similar to DIPG, diffuse midline gliomas (DMG) often fall into similar categories for both diagnosis and treatment as DIPG and are often categorized together.[3] More recently, biopsies are performed so that the best option for clinical trials can be chosen.
In studies resulting from the DIPG/DMG Registry and in connection with the DIPG/DMG Collaborative, statistics reveal that approximately 150–300 patients are diagnosed with DIPG in the USA per year, the median age of patients with DIPG is approximately 6–7 years old and the male/female ratio of DIPG patients is 1:1.[4]
## Treatment[edit]
The standard treatment for DIPG is 6 weeks of radiation therapy, which often dramatically improves symptoms. However, symptoms usually recur after 6 to 9 months and progress rapidly.[5]
### Neurosurgery[edit]
Surgery to attempt tumour removal is usually not possible or advisable for DIPG. By nature, these tumors invade diffusely throughout the brain stem, growing between normal nerve cells. Aggressive surgery would cause severe damage to neural structures vital for arm and leg movement, eye movement, swallowing, breathing, and even consciousness.
A neurosurgically performed brain-stem biopsy for immunotyping of diffuse intrinsic pontine glioma has served a limited recent role in experimental clinical studies and treatment trials. This, however, is not the current standard of care, as it presents considerable risk given the biopsy location, and thus is appropriately performed only in the context of participation in an ongoing clinical treatment trial.
Pontine biopsy is in no way a therapeutic or curative surgery, and the risks (potentially catastrophic and fatal) are only outweighed when the diagnosis is uncertain (extremely unusual) or the patient is enrolled in an approved clinical trial.
### Radiotherapy[edit]
Radiotherapy for a young adult patient with a diffuse intrinsic pontine glioma. Color indicates radiation dose.
Conventional radiotherapy, limited to the involved area of tumour, is the mainstay of treatment for DIPG. A total radiation dosage ranging from 5400 to 6000 cGy, administered in daily fractions of 150 to 200 cGy over 6 weeks, is standard. Hyperfractionated (twice-daily) radiotherapy was used previously to deliver higher radiation dosages, but did not lead to improved survival. Radiosurgery (e.g., gamma knife or cyberknife) has a role in the treatment of DIPG and may be considered in selected cases.
### Chemotherapy and other drug therapies[edit]
The role of chemotherapy in DIPG remains unclear. Studies have shown little improvement in survival, although efforts (see below) through the Children's Oncology Group (COG), Paediatric Brain Tumour Consortium (PBTC), and others are underway to explore further the use of chemotherapy and other drugs. Drugs that increase the effect of radiotherapy (radiosensitizers) have shown no added benefit, but promising new agents are under investigation. Immunotherapy with beta-interferon and other drugs has also had little effect in trials. Intensive or high-dose chemotherapy with autologous bone marrow transplantation or peripheral blood stem cell rescue has not demonstrated any effectiveness in brain stem gliomas. Future clinical trials may involve medicines designed to interfere with cellular pathways (signal transfer inhibitors), or other approaches that alter the tumor or its environment.[6][7][8]
## Prognosis[edit]
Summary of a meta analysis of over 1,000 cases of DIPG and high-grade pediatric gliomas, highlighting the mutations involved as well as generic outcome information.
DIPG has a 5-year survival rate of <1%. The median overall survival of children diagnosed with DIPG is approximately 9 months. The 1- and 2-year survival rates are approximately 30% and less than 10%, respectively. These statistics make DIPG one of the most devastating pediatric cancers.[9] Although 75–85% of patients show some improvement in their symptoms after radiation therapy, DIPGs almost always begin to grow again (called recurrence, relapse, or progression). Clinical trials have reported that the median time between radiation therapy and progression is 5–8.8 months.[10] Patients whose tumors begin to grow again may be eligible for experimental treatment through clinical trials to try to slow or stop the growth of the tumor. However, clinical trials have not shown any significant benefit from experimental DIPG therapies so far.[10]
DIPGs that progress usually grow quickly and affect important parts of the brain. The median time from tumor progression to death is usually very short, between 1 and 4.5 months. During this time, doctors focus on palliative care: controlling symptoms and making the patient as comfortable as possible.[10]
## Research[edit]
Mutations in diffuse intrinsic pontine glioma samples from several anatomical locations.
Schematic of a currently experimental approach to DIPG drug delivery involving nanoparticles and stem cells.
As is the case with most brain tumors, a major difficulty in treating DIPG is overcoming the blood–brain barrier.[11][12]
In the brain – unlike in other areas of the body, where substances can pass freely from the blood into the tissue – there is very little space between the cells lining the blood vessels. Thus, the movement of substances into the brain is significantly limited. This barrier is formed by the lining cells of the vessels as well as by projections from nearby astrocytes. These two types of cells are knitted together by proteins to form what are called "tight junctions". The entire structure is called the blood–brain barrier (BBB). It prevents chemicals, toxins, bacteria, and other substances from getting into the brain, and thus serves a continuous protective function. However, with diseases such as brain tumors, the BBB can also prevent diagnostic and therapeutic agents from reaching their target.
Researchers and clinicians have tried several methods to overcome the blood–brain barrier:
* Intrathecal/intraventricular administration: Chemotherapy is injected directly into the cerebrospinal fluid, either through a lumbar puncture or a surgically implanted catheter.
* Intracerebral implants: A neurosurgeon creates a cavity within a tumor to allow the placement of dime-sized chemotherapy wafers, such as Gliadel wafers. Several of these wafers can be placed at the time of surgery and will release the chemotherapy agent carmustine slowly over time. This provides a much higher concentration of chemotherapy in the brain than can be obtained with intravenous administration, and it causes fewer systemic side effects. However, it is an option only for patients with surgically resectable tumours; it cannot be used to treat DIPG.[13]
* Osmotic blood–brain barrier disruption (BBBD): The cells of the blood–brain barrier are shrunk by a concentrated sugar solution (mannitol). This opens the barrier and allows 10 to 100 times more chemotherapy to enter the brain. A catheter is placed into a large artery (usually the one in the groin called the femoral artery) and threaded up to the carotid or vertebral artery. The hypertonic mannitol is injected, followed by a chemotherapeutic agent. Patients spend a few days in the hospital for each administration. This has been attempted with DIPG tumours.[14]
* Convection-enhanced delivery: Chemotherapy is delivered to the tumour by a surgically implanted catheter under a pressure gradient to achieve more distribution than with diffusion alone. Limited experiments have been conducted with brain tumors, including one with a DIPG.[15]
* Drug carriers: Carriers such as "Trojan horse" molecules, liposomes, and nanoparticles might theoretically allow a therapeutic drug to enter the brain. Such tactics are mostly in the investigatory stages and are not yet clinically relevant to brain tumour treatment.[12]
Development of Research Databases and Registries:
Starting in 2011 at the DIPG Symposium, under the cooperation of the DIPG Collaborative www.dipgcollaborative.org, The Cure Starts Now Foundation www.thecurestartsnow.org and 114 hospitals from 15 countries around the world, the International DIPG/DMG Registry was established creating the first linked platform of data collection for this disease. As of March, 2020, over 1100 patients [16][4] and families have contributed to this database making it the largest genomic, tissue, demographic and radiological database for DIPG and DMG in the world.
In 2019, The Cure Starts Now Foundation and the DIPG Collaborative partnered with the International DIPG Registry to develop www.dipg.org as a source of all current DIPG and DMG data, developed from current studies and expert articles by leading professionals.[17]
## Prominent patients[edit]
Lauren Hill, a DIPG patient from Lawrenceburg, Indiana, made national news headlines in the United States for her performance in high school basketball, followed by college basketball at Mount St. Joseph University near Cincinnati. Shortly before she was incapacitated by the tumour, MSJ and Hiram College held a sold-out game for her at Xavier University's Cintas Center (see 2014 Hiram vs. Mount St. Joseph women's basketball game). NBA star LeBron James posted words of encouragement on Instagram, and Pat Summitt and the Indiana Pacers gave $5,000 to Hill's charity.[18] Doctors said she could become the "face" of DIPG, much in the same way that Lou Gehrig was the public face of Amyotrophic lateral sclerosis. Hill said she "didn't want to be another local story that disappeared and just became another statistic on a paper", and that she would "do anything she could to be the voice for little kids".[19] She died on April 10, 2015.[19][20][21] Ultimately her efforts raised nearly $2.5 million for new research and formed The Cure Starts Now chapter in her honor.[22]
Elena Desserich, from the Cincinnati suburb of Wyoming, Ohio, United States, was the subject of the book Notes Left Behind, originally self-published in 2009. It soon received national attention and was later re-published in 2009 by HarperCollins Publishers. It was listed as a New York Times Best Seller shortly thereafter.[23] It was later reprinted in 22 different languages worldwide.[24] Diagnosed with DIPG in 2006, her parents were told she had just 275 days to live. Her parents vowed to make what remained of Elena's life as special as possible. She lived for ten months after her diagnosis, eventually being paralysed and left unable to speak by the cancer. She died in August 2007. Shortly after, her parents and younger sister began finding notes all over the house.[25][26] Her parents didn't tell Elena her prognosis, but retrospectively believe that she knew it.[26] The book also contains entries from Elena's parents' diary as well as several of Elena's drawings.[25] The Cure Starts Now Foundation was founded after her passing and from the proceeds of the book. As of 2020, The Cure Starts Now Foundation had over 40 chapter locations in three countries [27] and was a leading funder of over $14 million in DIPG/DMG research in 15 countries and over 90 trials.[28]
Nathaniel "Kayne" Finley, an 18 year old from Florida, was diagnosed with DIPG in November 2016. After a year long battle and striving to live life to its fullest, Kayne passed away in November 2017. His legacy, "Cannonballs for Kayne" the non profit organization that he founded is now run by his family who cherish his memory and continue raising awareness for DIPG in his stead.
Emma Mertens, an eight-year-old from Hartland, Wisconsin, was diagnosed with DIPG in January 2019 and died in November.[29] Mertens, a dog lover, received over 80,000 emails and letters of dog photos after her case went viral.[30] A foundation launched by her and her parents donated more than 3,000 stuffed animals and 1,000 books.[31]
In June 1961, Karen Armstrong, daughter of Neil Armstrong and Janet Elizabeth Shearon, was diagnosed with a diffuse intrinsic pontine glioma.[30] X-ray treatment slowed its growth, but her health deteriorated to the point where she could no longer walk or talk. She died of pneumonia, related to her weakened health, on January 28, 1962, aged two.[32]
Wikimedia Commons has media related to Diffuse intrinsic pontine glioma.
## References[edit]
1. ^ American Brain Tumour Foundation http://www.abta.org/siteFiles/SitePages/1DA98D1B9B8D924603E99AA4C241B3A5.pdf Archived 2012-04-16 at the Wayback Machine
2. ^ "Diffuse Intrinsic Pontine Glioma (DIPG)". Archived from the original on 13 April 2015. Retrieved 20 December 2018.
3. ^ "Diffuse Midline Gliomas". National Cancer Institute. n.d. Archived from the original on 8 October 2019. Retrieved 24 November 2019.
4. ^ a b "DIPG Statistics".
5. ^ St Jude Children's Research Hospital http://www.stjude.org/stjude/v/index.jsp?vgnextoid=b86c061585f70110VgnVCM1000001e0215acRCRD&vgnextchannel=bc4fbfe82e118010VgnVCM1000000e2015acRCRD
6. ^ childhood brain tumor http://www.childhoodbraintumor.org/medical-information/brain-tumor-types-and-imaging/item/81-brain-stem-gliomas-in-childhood.
7. ^ Fisher PG, Breiter SN, Carson BS, Wharam MD, Williams JA, Weingart JD, Foer DR, Goldthwaite PT, Burger PC. A clinicopathologic reappraisal of brainstem tumour classification: identification of pilocytic astrocytoma and fibrillary astrocytoma as distinct entities. Cancer 89:1569–1576, 2000.
8. ^ Donaldson SS, Laningham F, Fisher PG. Advances toward an understanding of brain stem gliomas. J Clin Oncol 24:1266–1272, 2006.
9. ^ Treatment of newly diagnosed diffuse brain stem gliomas in children – David N. Korones. http://www.expert-reviews.com/doi/abs/10.1586/14737140.7.5.663
10. ^ a b c "Recurrence/Relapse – DIPG Registry". Archived from the original on 9 April 2015. Retrieved 20 December 2018.
11. ^ Just One More Day
12. ^ a b Getting into the Brain: Approaches to enhance brain drug delivery CNS Drugs 2009;23(1):35–58.
13. ^ "Archived copy". Archived from the original on 2010-05-05. Retrieved 2015-04-13.CS1 maint: archived copy as title (link)
14. ^ Osmotic blood-brain barrier – disruption chemotherapy for diffuse pontine gliomas|J Neurooncol. 2006 May;77(3):279-84. Epub 2005 Nov 29
15. ^ Real-time image-guided direct convection perfusion of intrinsic brainstem lesions.|J Neurosurg. 2007 Jul;107(1):190-7.
16. ^ "International DIPG Registry Update: August 2018 | DIPG Registry".
17. ^ "DIPG: The Diffuse Intrinsic Pontine Glioma Resource Network".
18. ^ "Player with brain tumor fulfills hoops dream". ESPN.com. 2 November 2014. Retrieved 20 December 2018.
19. ^ a b WKRC (10 April 2015). "Lauren Hill (1995–2015)". WKRC. Retrieved 20 December 2018.
20. ^ Apr 10, foxsports; ET, 2015 at 7:22a (10 April 2015). "Hundreds gather to honor memory of Lauren Hill". FOX Sports. Retrieved 20 December 2018.
21. ^ "Lauren Hill dies at 19 after battle with brain cancer". USA TODAY. Retrieved 20 December 2018.
22. ^ "Indiana (Southeastern)".
23. ^ "Best Sellers, Hardcover Nonfiction". The New York Times. The New York Times Company. November 6, 2009.
24. ^ "International Sales".
25. ^ a b "Notes left by cancer victim, six, for family turned into book". The Daily Telegraph. London: Telegraph Media Group. 6 November 2009. Retrieved 9 July 2010.
26. ^ a b Gordon, Andrea (5 November 2009). "Dying 6-year-old girl leaves love notes behind". Toronto Star. Star Media Group. Retrieved 9 July 2010.
27. ^ "Chapters".
28. ^ "Research and Grants".
29. ^ Frank, Evan (18 November 2019). "A memorial service is planned for the Hartland girl who became known for her love of dogs". Milwaukee Journal Sentinel. Retrieved 24 November 2019.
30. ^ a b Chillag, Amy; Higgins, Cole (1 March 2019). "Girl, 7, Fighting Rare Cancer Gets Pics of Dogs from Well-Wishers". CNN. Retrieved 24 November 2019.
31. ^ Jewell, Hannah (23 November 2019). "Emma Loves Dogs: Memorial held for Hartland 8-year-old". Fox 6. Retrieved 24 November 2019.
32. ^ Hansen, James R. (2005). First Man: The Life of Neil A. Armstrong. New York: Simon & Schuster. pp. 161–164. ISBN 978-0-7432-5631-5. OCLC 937302502.CS1 maint: ref=harv (link)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Diffuse intrinsic pontine glioma
|
c2986658
| 25,267 |
wikipedia
|
https://en.wikipedia.org/wiki/Diffuse_intrinsic_pontine_glioma
| 2021-01-18T18:46:25 |
{"gard": ["13075"], "umls": ["C2986658"], "orphanet": ["497188"], "wikidata": ["Q25339127"]}
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
|
c3810023
| 25,268 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508498
| 2021-01-23T17:41:36 |
{"omim": ["615583"]}
|
Surfer's knots are a cutaneous condition caused by chronic pressure over bony prominences leading to thick fibrotic nodules on knees, knuckles, dorsal feet, often seen with those who perform surfing, boxing, football, and marbles.[1]
## See also[edit]
* Turf toe
* Tennis toe
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1371. ISBN 1-4160-2999-0.
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
|
Surfer's knots
|
None
| 25,269 |
wikipedia
|
https://en.wikipedia.org/wiki/Surfer%27s_knots
| 2021-01-18T18:49:41 |
{"wikidata": ["Q7646084"]}
|
Abortion in Russia is legal as an elective procedure up to the 12th week of pregnancy, and in special circumstances at later stages.[1] In 1920, the Russian Soviet Republic became the first country in the world in the modern era to allow abortion in all circumstances, but over the course of the 20th century, the legality of abortion changed more than once, with a ban being enacted again from 1936 to 1955. Russia had the highest number of abortions per woman of child-bearing age in the world according to UN data as of 2010.[2] In terms of the total number, in 2009 China reported that it had over 13 million abortions,[3] out of a population of 1.3 billion, compared to the 1.2 million abortions in Russia,[4] out of a population of 143 million people.
## Contents
* 1 Abortion in the Russian Empire
* 2 Abortion in the Union of Soviet Socialist Republics
* 2.1 1920-1936
* 2.2 1936-1955
* 2.3 1955 onward
* 2.4 Abortion in the Early Years of the Russian Federation
* 3 Current law
* 3.1 Political debate
* 4 Statistics
* 5 See also
* 6 References
* 7 External links
## Abortion in the Russian Empire[edit]
Abortion was illegal in the Russian Empire. The practice is not directly referenced in the Domostroi, though child rearing is a common topic. During Tsar Alexis Romanov's reign the punishment for abortion was death, only later removed by Peter the Great. Abortion continued to be a serious crime until 1917. Through articles 1462 and 1463 of the Russian Penal Code individuals "guilty of the crime could be deprived of civil rights and exiled or sentenced to hard labor."[5] Despite its illegality, "black market" abortions existed. Underground obstetric personnel known as povival’nye babki and sel’skie povival’nye babki, usually translated as midwives and rural midwives, respectively and commonly referred to as simply babki, literally "old women" and povitukhi (midwives) performed abortions. Not merely abortionists, babki were trained health care professionals—they served as nurses and midwives in especially rural areas where proper medical service was unavailable.[6] The number of abortions increased in Moscow two-and-a-half times between 1909 and 1914; the increased frequency of abortions in St. Petersburg was many times higher over the turn of the century, 1897-1912.[7] Statistical data from the beginning of the 20th century suggest that the strict laws were rarely enforced. For instance, figures for sentences pronounced during the years before the First World War include: 20 (1910), 28 (1911), 31 (1912), and 60 (1914).[5]
In the late Russian Empire, doctors and jurists began to advocate for relaxed abortion laws and increased contraception. The motivation was to make abortions less dangerous.[8] According to historians, the movement to legalize abortion and encourage contraception arose differently than it did in Western Europe. Rather than among the political scene (as in France, for example), proponents came from medical fields.[5] In 1889 the Third Congress of the Pirogov Society, a medical scientific society whose works had a resounding influence in Russia, started the discussion on decriminalization of abortion. Others followed: in 1911 the Fourth Congress of the Society of Russian Midwives,[8] in 1913 the Pirogov Society's Twelfth Congress, and in 1914 the Russian group of the International Society of Criminologists came forward supporting decriminalization.[5]
## Abortion in the Union of Soviet Socialist Republics[edit]
### 1920-1936[edit]
The Soviet government was the first government in Europe to legalize abortion. In October 1920 the Bolsheviks made abortion legal within the Russian Soviet Federative Socialist Republic with their “Decree on Women’s Healthcare.” After the RSFSR the law was introduced in Ukraine (5 July 1921) and then the remainder of the Soviet Union.[9] The government saw legalization as a temporary necessity, as after the economic crisis and nearly a decade of unrest, war, revolution, and civil war, many women would be seeking abortions due to not being able to take care of their child. Restrictions were placed on the criteria for abortions and by 1924 it was only permitted where pregnancy risked the life of the woman or the unborn child.[10] The Soviet Union encouraged pronatal policies; however, Soviet officials argued that women would be getting abortions regardless of legality, and the state would be able to regulate and control abortion only if it was legalized. In particular, the Soviet government hoped to provide access to abortion in a safe environment performed by a trained doctor instead of babki.[11] While this campaign was extremely effective in the urban areas (as much as 75% of abortions in Moscow were performed in hospitals by 1925), it had much less on rural regions where there was neither access to doctors, transportation, or both and where women relied on traditional medicine.[12] In the countryside in particular, women continued to see babki, midwives, hairdressers, nurses, and others for the procedure after abortion was legalized in the Soviet Union.[13]
The Soviet Union became the first country to have abortion available, on request, often for no cost.[14] There was intense debate among government and medical officials surrounding its legalization. The main arguments used in opposition to legalizing abortion were that it would have a harmful effect on population growth or on the grounds that it was too medically harmful to the woman. By the mid-1920s, hospitals were so severely congested by abortion procedures that special clinics had to be opened to free up beds. The enormous rate of abortions being performed also caused many doctors to become concerned and restrictions started being passed to limit abortion after the third month of pregnancy and to ensure that priority was given only to women deemed too poor, single, or who already had several children. Only six months between a first abortion and a second abortion was permitted.[10] In addition, renewed efforts were made to prosecute babki. This had first started with the legalization of abortion in 1920 and a fair number of babki were caught and punished as legal abortion gave them no excuse to continue operating. During the collectivization drives in the early 1930s, this was temporarily put on the back burner, but in 1934 new, stricter laws were passed on performing illegal abortions, including a circular of the RSFSR Procuracy and extensive stories on them in the major newspapers. The circular requested that regional prosecutors step up efforts to combat unsanctioned abortion, citing a letter submitted to the Procuracy by an anonymous private citizen decrying the harm done to women by babki in one rural district. A month later, Izvestiia ran a piece condemning "the plight of young women who ended up at the abortionist's doorstep after being unable to find employment."[15]
### 1936-1955[edit]
On June 27, 1936, the Soviet Union made abortion illegal again, stemming largely from concerns about population growth. The law that outlawed abortion did not only do just that, but rather contained several different decrees. The official title of the law was, “Decree on the Prohibition of Abortions, the Improvement of Material Aid to Women in Childbirth, the Establishment of State Assistance to Parents of Large Families, and the Extension of the Network of Lying-in Homes, Nursery schools and Kindergartens, the Tightening-up of Criminal Punishment for the Non-payment of Alimony, and on Certain Modifications in Divorce Legislation.” This law allowed abortion only in the case of a threat to woman's health. All of this was part of the Soviet initiative to encourage population growth, as well as place a stronger emphasis on the importance of the family unit to communism.[16]
The law coincided with a state-sponsored promotion of Circus (premiered on May 25, 1936, was postponed) with an American Catholic career woman protagonist, giving birth to a child from her racism-forbidden relationships with Afro-American lover.[citation needed] At his meeting with the workers from the Stakhanovite movement, Stalin, who was closely following the cinema as a mighty source of propaganda, said: “We must finally understand that, of all the valuable capitals available in the world, the most valuable and decisive capital is the people”.[17] Just after that, America and Americans have disappeared from the Soviet cinema.[18]
This decree provoked resentment and opposition among urban women arguing that it was often impossible to have a child when they were trying to further their careers (as the Soviet state actively promoted female education and work placement) and because of inadequate housing and supplies needed to care for children. The anti-abortion laws in practice were only marginally more enforceable than in tsarist times and babki continued to ply their trade, knowing that there was little risk of being caught. Although there were numerous cases of women checking into hospitals after undergoing botched abortions, it was usually impossible to tell if they had had a miscarriage, a self-performed one, or one performed by a babka. The unwritten code of female solidarity also held strong and women seldom ratted out babki to the authorities.
In practice, the abortion rate was affected little by the 1936 decrees, although it was observed that the rate of infant mortality rose between 1935 and 1940 due to apparently women injuring themselves in illegal abortions that then prevented them from producing healthy children.[19] Babki abortion services remained as they had always been, unsafe, expensive, and forcing women to lie to authorities.
The law provided allowances to women for their seventh and subsequent children up until their third birthday. In 1944 the benefits were expanded to offer allowances for the third children until their fourth birthday and for fourth and subsequent children until their seventh birthday. However, all of this aid was cut in 1948, after the largest source of population depletions, World War II, was over. Despite abortion being outlawed and these fertility policies, abortion rates remained high during this time. Illegal abortions caused an estimated 4,000 deaths per year from complications from underground abortions. Women continued to get illegal abortions during this time due to policies encouraging married women to be employed and economic policies favoring heavy industry and national defense over housing and consumer goods.[20]
During the postwar era, millions of men were dead and the government was forced to legitimize single-mother families. The New Family Law of 1944 sanctioned single motherhood as a site of reproduction by providing financial support for single mothers. The prevalence of single mothers in this time was a reality; by 1957, 3.2 million women were claiming government aid as single mothers.[21]
The relaxation of government policy on women's reproductive rights began in the 1950s. The beginning was the expansion of the list of medical indications for termination of pregnancy in 1951, and in 1954 - the criminal liability for illegal abortion was finally canceled.[22]
### 1955 onward[edit]
After Stalin's death in 1953, the Soviet government revoked the 1936 laws[23] and issued a new law on abortion.[24] The decree stated that “measures carried out by the Soviet state to encourage motherhood and protect infancy, as well as the uninterrupted growth of the consciousness and culturedness of women,” allowed for the change in policy. The language of the decree implied that most women would choose motherhood over abortion and that preventing abortion remained a goal of the government, as it was still encouraging population growth.[24]
During the late 1950s and 1960s, it is estimated that the Soviet Union had some of the highest abortion rates in the world. The abortion rate during this period is not known for sure, because the Soviet Union did not start releasing abortion statistics until perestroika. The best estimates, which are based on surveys of medical professionals during this time, say that about 6 to 7 million abortions were performed per year.[25]
One of the few insights we have regarding abortion during the late 1950s is a survey, conducted between 1958 and 1959, of 26,000 women seeking abortions, 20,000 from urban areas and 6,000 from rural areas. Several facts can be gathered from this survey regarding what kind of women sought abortions and their reasons for doing so. First of all, an "overwhelming majority" of the women were married, though the survey results do not give an exact percentage. Second, we can learn how many children the women had. Of the urban women, 10.2% were childless, 41.2% had one child, 32.1% had two children, and 16.5% had three or more children, making the median number of children 1.47. Of the rural women, 6.2% were childless, 26.9% had one child, 30% had two children, and 36.9% had three or more children, the median number of children being 2.06. Of women seeking abortions, urban women were more likely to have fewer or no children.[26] This may have been an effect of the lack of space faced by urban women.
The survey also examined women's reasons for seeking abortions. It divided the reasons into four categories. The first was "unconditionally removable", things that could be remedied by government action, such as material need, lack of space, no one at home, or no institution to put the child in. The second category was "conditionally removable", things that might possibly be remedied by government action, such as the absence of a husband, family troubles, or illness of one or both parents. The third category was "unremovable", things that were not caused by social conditions, such as a baby in the family or many children already. The fourth category was "unclear causes", such as one or both parents unwilling to have a child and multiple other reasons.
The results for this question were: of the reasons given by urban women, 35% were unconditionally removable, 16.5%, were conditionally removable, 10% were unremovable, and 37.9% were unclear. Of the reasons given by rural women, 26.3% were unconditionally removable, 18% were conditionally removable, 10% were unremovable, and 45.2% were unclear. The most marked different was that more urban women cited lack of space as a reason. The survey results found that abortion rates were much higher among women who work, unsurprisingly, with a rate of 105.5 abortions per thousand pregnancies, as against 41.5 per thousand in women who did not work.
If the abortion rates of this survey are taken to be representative, then during this period the number of annual abortions was higher than the number of live births. This would also mean that the abortion rates in the Soviet Union were the highest of any in the world at that time. By the end of the Brezhnev era in 1982, Soviet birthrates hovered just at or below replacement level except in the Muslim-majority Central Asian republics.[26]
### Abortion in the Early Years of the Russian Federation[edit]
The early years of the Russian Federation were marked by declining rates of fertility and abortion and increased access to and use of preventative birth control. The official policy of the Soviet Union at the time of its collapse was pro-family planning, although contraceptives were generally unavailable to the public, leaving most women with abortion as the only way to regulate family size.[27] The declining rate of abortion indicates that fewer and fewer Russian pregnancies were intended. Most common in the 1990s were ‘miniabortions,’ abortions by vacuum aspiration performed during the first seven weeks of pregnancy. The legalization of miniabortions in 1988 made the previously required three-day hospital stay unnecessary. Unreliable quality and availability of contraceptive options may have partially slowed the decline in abortion rates in Russia in the 1990s. In Russia at the beginning of the 1990s no more than 75% of sexually active women used preventative birth control of any kind. While such resources became more available with the fall of the Soviet Union, by 1993 still less than half of Russian women felt they had adequate access to them.[28] In the first decade of the Russian Federation alone both of Russia's condom factories and the only Russian IUD factory shut down for periods of time because of concerns about latex prices and quality control. With the start of democracy in Russia still 41% of sexually active women relied on unreliable ‘traditional methods’ of birth control. Many women who used those methods cited the availability of abortions as a factor in their reasoning. Many women who used no method of birth control at all also cited the option of abortion as a reason that they did not concern themselves with modern or even traditional family planning strategies. Between 1990 and 2000 the number of annual abortions in Russia declined by half, but the ratio of abortions to live births (2.04 in 1990 to 1.92 in 1996) declined similarly. This means not only that fewer abortions were performed, but that fewer women became pregnant overall. This overall declining rate of fertility was a partial cause of one of the two main structural factors in Russia that promote abortion over preventative birth control. Other factors lowering the rate of abortion include measures taken by President Vladimir Putin to increase family size in Russia. In the early 2000s he called for federal financial support for children in the first 18 months of life as a way to encourage women to have a second or third child.[29] When he first proposed this the Russian population was declining by 700,000 people every year. In the first ten years of the Russian Federation, the population of Russia declined by 3 million. Concerns about population decline in Russia are widespread and very important to the dialogue on abortion. Attempts to mitigate population decline started with increased financial support for young children in Russia and eventually lead to restricted access to abortion.
Other factors in the decline of abortion in Russia include the legalization of sterilization. Regulations of contraceptive sterilization had been in place since the 1930s but were lifted in 1993. In the first seven years that the practice was legal, almost 100,000 women sought and obtained sterilizations.[30] This is a factor in the declining rates of unintended pregnancy in Russia. 2003 was the first time in fifty years that laws regarding access to abortion were made stricter; every other piece of legislation on the topic in both the Soviet Union and the Russian Federation was to grant women easier access.[25] In 1991, the year of the fall of the Soviet Union a record of about 3,608,000 abortions were performed in Russia. This number declined steadily over the years and by 2002 Russian doctors were performing 1,802,000 abortions annually. This is a significant decline, but leaves Russia with still the second-highest rate of abortions per capita.[25] (While abortions in Russia overall were declining, in the Asian part of the country the rate was actually increasing.[25]) While abortion rates in these Asian republics were not as high as those in Western Russia at the time of the collapse of the Soviet Union, and are still not the highest in the country, they did rise. The decrease in overall rates of abortion is mostly due to the very steep drop in abortions per year in the two biggest cities in Russia, Moscow and St. Petersburg. National concern about declining population was a continuing trend since the 1980s, and caused the new regime to adopt anti-family planning policies. The use of contraceptives slowly rose over the 1990s but still in 1997 one in ten Russian pregnancies ended in abortion, and so it could be assumed that at least one in ten Russian pregnancies was unintended. Legally in Russia, the abortion procedure must take place in a hospital and as a result abortions provide an important source of income for healthcare providers. As abortions became slightly less common they hardly got safer. By 1998 still two in three abortions had some kind of health complication. Among the most common of these complications is unintentional secondary sterilization, which happens to one in ten Russian women who seeks an abortion in her lifetime. Among minors getting abortions, this rate is twice as high. Illegal abortions, performed without license by doctors or babki, have higher rates of mortality and sterilization even than legal abortions, but remain relatively popular because of their confidentiality.
## Current law[edit]
During the 2000s, Russia's steadily falling population (due to both negative birthrates and low life expectancy) became a major source of concern, even forcing the military to curtail conscription due to shortages of young males. On 21 October 2011, the Russian Parliament passed a law restricting abortion to the first 12 weeks of pregnancy, with an exception up to 22 weeks if the pregnancy was the result of rape, and for medical necessity it can be performed at any point during pregnancy.[1] The new law also made mandatory a waiting period of two to seven days before an abortion can be performed, to allow the woman to "reconsider her decision".[1] Abortion can only be performed in licensed institutions (typically hospitals or women's clinics) and by physicians who have specialized training. The physician can refuse to perform the abortion, except the abortions for medical necessity.[1] The new law is stricter than the previous one, in that under the former law abortions after 12 weeks were allowed on broader socioeconomic grounds,[31] whereas under the current law such abortions are only allowed if there are serious medical problems with the mother or fetus, or in case of rape.
According to the Criminal Code of Russia (article 123), the performance of an abortion by a person who does not have a medical degree and specialized training is punishable by fine of up to 800,000 RUB; by a fine worth up to 8 months of the convicted's income; by community service from 100 to 240 hours; or by a jail term of 1 to 2 years. In cases when the illegal abortion resulted in the death of the pregnant woman, or caused significant harm to her health, the convicted faces a jail term of up to 5 years.
### Political debate[edit]
The abortion issue gained renewed attention in 2011 in a debate that The New York Times says "has begun to sound like the debate in the United States".[32] Parliament passed and President Dmitri Medvedev signed several restrictions on abortion into law to combat "a falling birthrate" and "plunging population".[32] The restrictions include requiring abortion providers to devote 10% of advertising costs to describing the dangers of abortion to a woman's health and make it illegal to describe abortion as a safe medical procedure. Medvedev's wife Svetlana Medvedeva has taken up the pro-life cause in Russia in a weeklong national campaign against abortion called "Give Me Life!" and a "Day of Family, Love and Faithfulness" by her Foundation for Social and Cultural Initiatives in conjunction with the Russian Orthodox Church.[32]
## Statistics[edit]
Despite a significant reduction in the abortion to birth ratio since the mid-1990s, the countries of the former Soviet Union maintain the highest rate of abortions in the world. In 2001, 1.31 million children were born in Russia, while 2.11 million abortions were performed.[33] In 2005, 1.6 million abortions were registered in Russia;[4] 20% of these involved girls under the age of 18.[34] Official statistics put the number at 737,948 in 2016.[4]
As of 2010[update], the abortion rate was 37.4 abortions per 1000 women aged 15–44 years, the highest of any country reported in UN data.[2]
Abortion statistics were considered state secrets in the Soviet Union until the end of the 1980s.[35] During this period, the USSR had one of the highest abortion rates in the world. The abortion rate in the USSR peaked in 1965, when 5.5 million abortions were performed, the highest number in Russia's history. Nevertheless, the legalization of abortion did not fully eliminate criminal abortions. [E.A. Sadvokasova]
## See also[edit]
* Tax on childlessness
* Russian cross
## References[edit]
1. ^ a b c d (in Russian) Федеральный закон Российской Федерации от 21 ноября 2011 г. N 323-ФЗ
2. ^ a b "World Abortion Policies 2013". United Nations. 2013. Retrieved 3 March 2014.
3. ^ China has more than 13 million abortions a year
4. ^ a b c (in Russian) Единая межведомственная информационно-статистическая система. Число прерываний беременности Archived 2015-09-24 at the Wayback Machine
5. ^ a b c d Alexandre Avdeev, Alain Blum, and Irina Troitskaya. "The History of Abortion Statistics in Russia and the USSR from 1900 to 1991." Population (English Edition) 7, (1995), 39-66.
6. ^ Janet, Hyer, "Fertility Control in Soviet Russia, 1920--1936: A Case Study of Gender Regulation and Professionalization. Thesis (Ph.D.)" (University of Toronto, 2007), 33n.
7. ^ Stites, Richard. The Women's Liberation Movement in Russia: Feminism, Nihilism, and Bolshevism, 1860-1930 (Princeton, N.J.: Princeton University Press, 1978), 181.
8. ^ a b I.S. Kon, The Sexual Revolution in Russia: From the Age of the Czars to Today (New York: The Free Press, 1995), 41.
9. ^ Alexandre Avdeev, Alain Blum, and Irina Troitskaya. "The History of Abortion Statistics in Russia and the USSR from 1900 to 1991." Population (English Edition) 7, (1995), 42.
10. ^ a b Khwaja, Barbara (26 May 2017). "Health Reform in Revolutionary Russia". Socialist Health Association. Retrieved 26 May 2017.
11. ^ I.S. Kon, The Sexual Revolution in Russia: From the Age of the Czars to Today (New York: The Free Press, 1995), 61.
12. ^ Michaels, Paula (2001). "Motherhood, Patriotism, and Ethnicity: Soviet Kazakhstan and the 1936 Abortion Ban". Feminist Studies. 27 (2): 309–11. doi:10.2307/3178760. JSTOR 3178760. PMID 17985490.
13. ^ Barbara Evans Clements, Barbara Alpern Engel, and Christine Worobec. Russia's Women: Accommodation, Resistance, Transformation (Berkeley: University of California Press, 1991), 260.
14. ^ Heer, David (1965). "Abortion, Contraception, and Population Policy in the Soviet Union". Demography. 2: 531–39. doi:10.2307/2060137. JSTOR 2060137. S2CID 46960030.
15. ^ Solomon, Susan Gross (1992). "The Demographic Argument in Soviet Debates over the Legalization of Abortion in the 1920s". Cahiers du Monde Russe et Soviétique. 33: 59–81. doi:10.3406/cmr.1992.2306. PMID 7691465.
16. ^ Randall, Amy (2011). "'Abortion Will Deprive You of Happiness!': Soviet Reproductive Politics in the Post-Stalin Era". Journal of Women's History. 23 (3): 13–38. doi:10.1353/jowh.2011.0027. PMID 22145180. S2CID 1203163.
17. ^ "Circus (1936)". culture.ru (in Russian). Ministry of Culture (Russia). Retrieved 19 August 2020.
18. ^ Abramov, Vladimir (14 July 2013). "Soviet Hollywood". svoboda.org (in Russian). Radio Liberty. Retrieved 21 August 2020.
19. ^ Sakevich, Viktoria Ivanovna (November 2005). "Что было после запрета аборта в 1936 году" [What happened after the ban of abortions in 1936?]. Demoscope Weekly: 221–222. ISSN 1726-2887. Archived from the original on 23 September 2015. Retrieved 19 September 2015.
20. ^ Heer, David; Bryden, Judith G. (1966). "Family Allowances and Fertility in the Soviet Union". Soviet Studies. 18: 161–63. doi:10.1080/09668136608410524.
21. ^ Randall, "Abortion Will Deprive You of Happiness!" 15-24.
22. ^ Shapovalova, Yanina. "State policy on abortion in the post-war period (1945-1950) (In Russian)". Theory and Practice of Social Development.
23. ^ Указ Президиума ВС СССР от 5.08.1954 об отмене уголовной ответственности беременных женщин за производство аборта [Decree of the Presidium of the USSR Supreme Council of 05.08.1954 on the decriminalization of abortion for pregnant women] (in Russian). 5 August 1954 – via Wikisource.
24. ^ a b Указ Президиума ВС СССР от 23.11.1955 об отмене запрещения абортов [Decree of the Presidium of the USSR Supreme Council of 11.23.1955 on the abolition of the prohibition of abortion] (in Russian). 23 November 1955 – via Wikisource.
25. ^ a b c d Wites, Tomasz (2004). "Abortions in Russia Before and After the Fall of the Soviet Union". Miscellanea Geographica. 11: 217–28. doi:10.2478/mgrsd-2004-0025.
26. ^ a b Heer, "Abortion, Contraception, and Population Policy in the Soviet Union" 532–36.
27. ^ Gadasina, A. (1997). "Struggling to survive in Russia". Planned Parenthood Challenges / International Planned Parenthood Federation (1–2): 40–42. PMID 12293463.
28. ^ Popov, A. A. (1990). "Family planning in the USSR. Sky-high abortion rates reflect dire lack of choice". Entre Nous (Copenhagen, Denmark) (16): 5–7. PMID 12222340.
29. ^ Putin, Vladimir. "Vladimir Putin on Raising Russia's Birth Rate".
30. ^ DaVanzo, Julie; Clifford Grammich. "Population Trends in the Russian Federation" (PDF). Dire Demographics. Retrieved 1 May 2013.
31. ^ http://www.un.org/esa/population/publications/abortion/doc/russia.doc.
32. ^ a b c Russia Enacts Law Opposing Abortion
33. ^ Заявление главного акушера и гинеколога России, директора Научного центра акушерства и гинекологии Владимира Кулакова [Statement by Chief of Obstetricians and Gynaecologists of Russia, Director of the Scientific Center for Obstetrics and Gynecology, Vladimir Kulakov] (in Russian).
34. ^ Marusina, Yevgeniya (23 August 2005). "Россияне вымирают из-за бесплодия и абортов" [Russians are dying out due to infertility and abortions]. utro.ru (in Russian). Retrieved 19 September 2015.
35. ^ (in Russian) Рассекреченная статистика числа абортов на 100 живорождений, 1960-2003 СССР-СНГ
## External links[edit]
* Tishchenko P., Yudin B. Moral Status of Fetuses in Russia
* Denisov, BP; Sakevich, VI; Jasilioniene, A (2012). "Divergent Trends in Abortion and Birth Control Practices in Belarus, Russia and Ukraine". PLOS ONE. 7 (11): e49986. doi:10.1371/journal.pone.0049986. PMC 3542819. PMID 23349656.
* Women Fault Soviet System For Abortion New York Times, published February 28, 1989
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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
|
Abortion in Russia
|
None
| 25,270 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Russia
| 2021-01-18T18:35:54 |
{"wikidata": ["Q4054854"]}
|
Triosephosphate isomerase deficiency
Other namesTriose phosphate-isomerase deficiency [1]
Triosephosphate isomerase deficiency has an autosomal recessive pattern of inheritance.
SpecialtyHematology
Triosephosphate isomerase deficiency is a rare autosomal recessive[2] metabolic disorder which was initially described in 1965.[3]
It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood.[4] The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Genetics[edit]
Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous housekeeping enzyme triosephosphate isomerase (TPI), have been discovered so far.[4] TPI is a crucial enzyme of glycolysis and catalyzes the interconversion of dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. A marked decrease in TPI activity and an accumulation of dihydroxyacetone phosphate have been detected in erythrocyte extracts of homozygous (two identical mutant alleles) and compound heterozygous (two different mutant alleles) TPI deficiency patients. Heterozygous individuals are clinically unaffected, even if their residual TPI activity is reduced. Recent work suggests that not a direct inactivation, but an alteration in TPI dimerization might underlie the pathology.[2] This might explain why the disease is rare, but inactive TPI alleles have been detected at higher frequency implicating a heterozygote advantage of inactive TPI alleles.[citation needed]
The most common mutation causing TPI deficiency is TPI Glu104Asp. All carriers of the mutation are descendants of a common ancestor, a person that lived in what is today France or England more than 1000 years ago.[5]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (August 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (August 2017)
## See also[edit]
* List of hematologic conditions
## References[edit]
1. ^ "Triosephosphate isomerase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 11 April 2019.
2. ^ a b Ralser, Markus; Gino Heeren; Michael Breitenbach; Hans Lehrach; Sylvia Krobitsch (December 20, 2006). Janbon, Guilhem (ed.). "Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes". PLOS ONE. 1 (1): e30. Bibcode:2006PLoSO...1...30R. doi:10.1371/journal.pone.0000030. PMC 1762313. PMID 17183658.
3. ^ Schneider, Arthur S.; William N. Valentine; Hattori M; H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency". New England Journal of Medicine. 272 (5): 229–235. doi:10.1056/NEJM196502042720503. PMID 14242501.
4. ^ a b Schneider, Arthur S. (Mar 2000). "Triosephosphate isomerase deficiency: historical perspectives and molecular aspects". Best Practice & Research Clinical Haematology. 13 (1): 119–140. doi:10.1053/beha.2000.0061. PMID 10916682.
5. ^ Schneider A, Westwood B, Yim C, et al. (1996). "The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families". Blood Cells Mol. Dis. 22 (2): 115–25. doi:10.1006/bcmd.1996.0019. PMID 8931952.
## External links[edit]
Classification
D
* ICD-10: D55.2
* ICD-9-CM: 282.3
* OMIM: 190450
* MeSH: C566029
* DiseasesDB: 30116
External resources
* Orphanet: 868
* v
* t
* e
Diseases of red blood cells
↑
Polycythemia
* Polycythemia vera
↓
Anemia
Nutritional
* Micro-: Iron-deficiency anemia
* Plummer–Vinson syndrome
* Macro-: Megaloblastic anemia
* Pernicious anemia
Hemolytic
(mostly normo-)
Hereditary
* enzymopathy: Glucose-6-phosphate dehydrogenase deficiency
* glycolysis
* pyruvate kinase deficiency
* triosephosphate isomerase deficiency
* hexokinase deficiency
* hemoglobinopathy: Thalassemia
* alpha
* beta
* delta
* Sickle cell disease/trait
* Hereditary persistence of fetal hemoglobin
* membrane: Hereditary spherocytosis
* Minkowski–Chauffard syndrome
* Hereditary elliptocytosis
* Southeast Asian ovalocytosis
* Hereditary stomatocytosis
Acquired
AIHA
* Warm antibody autoimmune hemolytic anemia
* Cold agglutinin disease
* Donath–Landsteiner hemolytic anemia
* Paroxysmal cold hemoglobinuria
* Mixed autoimmune hemolytic anemia
* membrane
* paroxysmal nocturnal hemoglobinuria
* Microangiopathic hemolytic anemia
* Thrombotic microangiopathy
* Hemolytic–uremic syndrome
* Drug-induced autoimmune
* Drug-induced nonautoimmune
* Hemolytic disease of the newborn
Aplastic
(mostly normo-)
* Hereditary: Fanconi anemia
* Diamond–Blackfan anemia
* Acquired: Pure red cell aplasia
* Sideroblastic anemia
* Myelophthisic
Blood tests
* Mean corpuscular volume
* normocytic
* microcytic
* macrocytic
* Mean corpuscular hemoglobin concentration
* normochromic
* hypochromic
Other
* Methemoglobinemia
* Sulfhemoglobinemia
* Reticulocytopenia
* v
* t
* e
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Disaccharide catabolism
* Congenital alactasia
* Sucrose intolerance
Monosaccharide transport
* Glucose-galactose malabsorption
* Inborn errors of renal tubular transport (Renal glycosuria)
* Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism
Fructose:
* Essential fructosuria
* Fructose intolerance
Galactose / galactosemia:
* GALK deficiency
* GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis
* GSD type 0 (glycogen synthase deficiency)
* GSD type IV (Andersen's disease, branching enzyme deficiency)
* Adult polyglucosan body disease (APBD)
Glycogenolysis
Extralysosomal:
* GSD type III (Cori's disease, debranching enzyme deficiency)
* GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
* GSD type V (McArdle's disease, myophosphorylase deficiency)
* GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
* GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
* MODY 2/HHF3
* GSD type VII (Tarui's disease, phosphofructokinase deficiency)
* Triosephosphate isomerase deficiency
* Pyruvate kinase deficiency
Gluconeogenesis
* PCD
* Fructose bisphosphatase deficiency
* GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)
Pentose phosphate pathway
* Glucose-6-phosphate dehydrogenase deficiency
* Transaldolase deficiency
* 6-phosphogluconate dehydrogenase deficiency
Other
* Hyperoxaluria
* Primary hyperoxaluria
* Pentosuria
* Aldolase A deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Triosephosphate isomerase deficiency
|
c0398562
| 25,271 |
wikipedia
|
https://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
| 2021-01-18T18:34:56 |
{"gard": ["5287"], "mesh": ["C566029"], "umls": ["C0398562", "C1860808"], "icd-9": ["282.3"], "icd-10": ["D55.2"], "orphanet": ["868"], "wikidata": ["Q458099"]}
|
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
## Epidemiology
It is the most common presentation of glycogen storage disease due to PhK deficiency (see this term) with an incidence estimated at less than 1/100,000 births.
## Clinical description
Patients usually present in early childhood with hepatomegaly, growth retardation, and mild delay in motor development. Fast-induced hypoglycemia and hyperlipidemia are variable and, if present, are generally mild. Adults are generally asymptomatic. Full-cheeked round face and osteopenia have been reported on exceptional occasions in cases with an X-linked inheritance. An increased risk of cirrhosis due to liver fibrosis is observed in cases with autosomal recessive inheritance.
## Etiology
Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. The most frequent type of GSD due to liver PhK deficiency is the X-linked recessive (XLG) type that is due to mutations in the PHKA2 gene (Xp22.2-p22.1) encoding the liver isoform of the alpha-subunit. When the enzymatic deficiency is found both in erythrocytes and liver cells, the disorder is classified as XLG1, whereas when the deficiency can only be demonstrated in liver cells, it is classified as XLG2, although studies have shown that, in both cases, mutations occur within the same subunit. The autosomal recessive type is due to mutations in the PHKG2 gene (16p12.1-p11.2) encoding the liver isoform of the gamma-subunit. PhK deficiency due to all these mutations leads to glycogen accumulation in the liver.
## Diagnostic methods
Biochemical diagnosis is made by measuring phosphorylase kinase activity in blood cells or in a liver biopsy. Some patients may have normal activity in red blood cells (XLG2 variant). Serum transaminase levels may be elevated. Genetic testing is useful to confirm or establish the diagnosis.
## Differential diagnosis
Differential diagnoses include other glycogen storage diseases such as GSD due to liver phosphorylase deficiency (GSD type VI), GSD due to glycogen debranching enzyme deficiency (GSD type III), and GSD due to glucose-6-phosphatase deficiency (GSD type I) (see these terms).
## Management and treatment
Most patients require no specific treatment. Hypoglycemia can be controlled by adequate dietary treatment (frequent meals rich in carbohydrates, and supplements of uncooked starch).
## Prognosis
The clinical course is benign with patients reaching their full height and weight during adulthood. Life expectancy 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
|
Glycogen storage disease due to liver phosphorylase kinase deficiency
|
c2751643
| 25,272 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=264580
| 2021-01-23T18:31:45 |
{"mesh": ["C567809"], "omim": ["306000", "613027"], "umls": ["C2751643"], "icd-10": ["E74.0"], "synonyms": ["GSD due to liver phosphorylase kinase deficiency", "GSD type 9A", "GSD type 9C", "GSD type IXa", "GSD type IXc", "Glycogen storage disease type 9A", "Glycogen storage disease type 9C", "Glycogen storage disease type IXa", "Glycogen storage disease type IXc", "Glycogenosis due to liver phosphorylase kinase deficiency", "Glycogenosis type 9A", "Glycogenosis type 9C", "Glycogenosis type IXa", "Glycogenosis type IXc", "XLG"]}
|
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mitochondrial DNA-associated Leigh syndrome
|
c2931092
| 25,273 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=255210
| 2021-01-23T18:02:00 |
{"gard": ["3671"], "mesh": ["C536035"], "omim": ["256000"], "umls": ["C2931092"], "icd-10": ["E88.8"], "synonyms": ["MILS", "Maternally-inherited Leigh disease", "Maternally-inherited infantile subacute necrotizing encephalopathy", "mtDNA-associated Leigh syndrome"]}
|
A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Sarcocystosis
|
c0036231
| 25,274 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54368
| 2021-01-23T17:31:56 |
{"mesh": ["D012523"], "umls": ["C0036231"], "icd-10": ["A07.8"], "synonyms": ["Sarcosporidiosis"]}
|
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Charcot-Marie-Tooth disease type 4H
|
c1836336
| 25,275 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99954
| 2021-01-23T18:07:29 |
{"gard": ["12442"], "mesh": ["C563740"], "omim": ["609311"], "umls": ["C1836336"], "icd-10": ["G60.0"], "synonyms": ["CMT4H"]}
|
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Osteopetrosis autosomal recessive 4
|
c1969106
| 25,276 |
gard
|
https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4
| 2021-01-18T17:58:31 |
{"mesh": ["C566933"], "omim": ["611490"], "umls": ["C1969106"], "orphanet": ["667"], "synonyms": ["OPTB4", "Autosomal recessive osteopetrosis type 4", "Osteopetrosis infantile malignant 2"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to fulminant viral hepatitis (FVH) is conferred by homozygous mutation in the IL18BP gene (604113) on chromosome 11q13. One such patient has been reported.
Clinical Features
Belkaya et al. (2019) reported an 11-year-old girl, born of consanguineous Algerian parents, who developed fatal fulminant hepatitis upon acute infection with hepatitis A. The patient presented with fatigue, nausea, hepatomegaly, jaundice, decreased appetite, incoherent speech, and gingival bleeding, which rapidly progressed to coma, icterus, and liver failure. Liver enzymes were significantly increased, and she underwent liver transplantation, but died a day later of multiorgan failure. She had no previous chronic or acute liver disease, and her 2 brothers experienced benign hepatitis A infections. However, she had a history of autoimmune disease, including insulin-dependent diabetes mellitus with anti-islet cell and anti-insulin antibodies, Hashimoto thyroiditis with antithyroperoxidase antibodies, and antithyroglobulin antibodies. She was also seropositive for CMV and EBV. She had no other features of an immunodeficiency.
Inheritance
The transmission pattern of FVH in the family reported by Belkaya et al. (2019) was consistent with autosomal recessive inheritance.
Molecular Genetics
In an 11-year-old girl, born of consanguineous Algerian parents, with FVH, Belkaya et al. (2019) identified a homozygous 40-bp deletion in the IL18BP gene (604113.0001), resulting in splicing abnormalities and complete IL18BP deficiency. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In vitro functional expression studies showed that the abnormal transcripts resulting from the mutation were unable to block any IL18 activity compared to wildtype or missense variants. Patient liver tissue showed high IL18 levels, barely detectable IL18BP, and high levels of inflammatory cells. Additional in vitro cellular studies showed that in the wildtype state, IL18-activated NK cells killed both infected and uninfected hepatocytes, and that this cytotoxicity was reversed by the addition of IL18BP. The findings indicated that absence of IL18BP in the patient with fulminant viral hepatitis due to hepatitis A led to uncontrolled IL18-mediated cytotoxic activity and an activated host response against hepatocytes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO
|
None
| 25,277 |
omim
|
https://www.omim.org/entry/618549
| 2019-09-22T15:41:25 |
{"omim": ["618549"]}
|
Part of a series on
Human body weight
General concepts
* Obesity (Epidemiology)
* Overweight
* Underweight
* Body shape
* Weight gain
* Weight loss
* Gestational weight gain
* Diet (nutrition)
* Weight management
* Overnutrition
* Childhood obesity (Epidemiology)
Medical concepts
* Adipose tissue
* Classification of obesity
* Genetics of obesity
* Metabolic syndrome (Epidemiology of metabolic syndrome)
* Metabolically healthy obesity
* Obesity paradox
Measurements
* Body adiposity index
* Body mass index
* Body fat percentage
* Body Shape Index
* Corpulence index
* Lean body mass
* Relative Fat Mass
* Waist–hip ratio
* Waist-to-height ratio
Related conditions
* Diabetes (Type 1)
* Eating disorder (Anorexia • Bulimia • Binge eating disorder)
* Food addiction
* Hyperthyroidism
* Malnutrition
* RED-S
* Starvation (Starvation response)
* PCOS
Obesity-associated morbidity
* Arteriosclerosis
* Atherosclerosis
* Fatty liver disease
* GERD
* Heart disease
* Hypertension
* Obesity and cancer
* Osteoarthritis
* Prediabetes
* Sleep apnea
* Type 2 diabetes
Management of obesity
* Anti-obesity medication
* Bariatrics
* Bariatric surgery
* Dieting (List of diets)
* Caloric deficit
* Exercise (outline)
* Liposuction
* Obesity medicine
* Weight loss camp
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* Yo-yo effect
Social aspects
* Comfort food
* Fast food (Criticism)
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* Social determinants of obesity
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* v
* t
* e
A 1680 painting by Juan Carreño de Miranda of a girl presumed to have Prader-Willi syndrome[1]
Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors.[2][3] Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity.[4][5]
Polymorphisms in various genes controlling appetite and metabolism predispose to obesity under certain dietary conditions. The percentage of obesity that can be attributed to genetics varies widely, depending on the population examined, from 6% to 85%.[6] As of 2006, more than 41 sites on the human genome have been linked to the development of obesity when a favorable environment is present.[7] The involvement of genetic factors in the development of obesity is estimated to be 40–70%. Some of these obesogenic or leptogenic genes may influence the obese individual's response to weight loss or weight management.[8]
## Contents
* 1 Genes
* 2 Genetic syndromes
* 3 See also
* 4 References
## Genes[edit]
Although genetic deficiencies are currently considered rare, variations in these genes may predispose to common obesity.[9][10][11] Many candidate genes are highly expressed in the central nervous system.[12]
Several additional loci have been identified.[13] Also, several quantitative trait loci for BMI have been identified.
Confirmed and hypothesized associations include:
Condition OMIM Locus Notes
leptin deficiency 164160 7q31.3
leptin receptor deficiency 601007 1p31
prohormone convertase-1 deficiency 600955 5q15-q21
proopiomelanocortin deficiency 609734 2p23.3
melanocortin-4 receptor polymorphism (MC4R[14]) 155541 18q22
BMIQ1 7q32.3 near D7S1804[15]
BMIQ2 13q14 near D13S257[15]
BMIQ3 6q23-q25 near D6S1009, GATA184A08, D6S2436, and D6S305[16]
BMIQ4 11q24 near D11S1998, D11S4464, and D11S912[16]
BMIQ5 16p13 near ATA41E04[17]
BMIQ6 20pter-p11.2 near D20S482[17]
INSIG2[14] 2q14.1
FTO[14] 16q12.2 Adults who were homozygous for a particular FTO allele weighed about 3 kilograms more and had a 1.6-fold greater rate of obesity than those who had not inherited this trait.[18] This association disappeared, though, when those with FTO polymorphisms participated in moderately intensive physical activity equivalent to three to four hours of brisk walking.[19]
TMEM18[14] 2p25.3
GNPDA2[14] 4p13
NEGR1[14] 1p31.1
BDNF[14] 11p13
KCTD15[14] 19q13.12 KCTD15 plays a role in transcriptional repression of AP-2α, which in turn, inhibits the activity of C/EBPα, an early inducer of adipogenesis.[20]
KLF14[21] ? Although it does not play a role in the formation of fat itself, it does determine the location on the body where this fat is stored.
SH2B1[22] 16p11.2
MTCH2[22] 11p11.2
PCSK1[22] 5q15-q21
NPC1[23] 18q11-q12
LYPLAL1[24] 616548 1q41 Disputed metabolic function of being either a lipase[25] or a short-chain carboxylesterase.[26]
Some studies have focused upon inheritance patterns without focusing upon specific genes. One study found that 80% of the offspring of two obese parents were obese, in contrast to less than 10% of the offspring of two parents who were of normal weight.[27]
The thrifty gene hypothesis postulates that due to dietary scarcity during human evolution people are prone to obesity. Their ability to take advantage of rare periods of abundance by storing energy as fat would be advantageous during times of varying food availability, and individuals with greater adipose reserves would more likely survive famine. This tendency to store fat, however, would be maladaptive in societies with stable food supplies.[28] This is the presumed reason that Pima Native Americans, who evolved in a desert ecosystem, developed some of the highest rates of obesity when exposed to a Western lifestyle.[29]
Numerous studies of laboratory rodents provide strong evidence that genetics play an important role in obesity.[30][31]
The risk of obesity is determined by not only specific genotypes but also gene-gene interactions. However, there are still challenges associated with detecting gene-gene interactions for obesity.[32]
## Genetic syndromes[edit]
The term "non-syndromic obesity" is sometimes used to exclude these conditions.[33] In people with early-onset severe obesity (defined by an onset before 10 years of age and body mass index over three standard deviations above normal), 7% harbor a single locus mutation.[34]
## See also[edit]
* New World Syndrome
* Nutritional genomics
Related:
* Human genetic variation
## References[edit]
1. ^ Mary Jones. "Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of Narcolepsy in a Five Year Old?". European Society of Sleep Technologists. Retrieved April 6, 2009.
2. ^ Albuquerque D, Stice E, et al. (Mar 2015). "Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective". Mol. Genet. Genomics. 290 (4): 1191–221. doi:10.1007/s00438-015-1015-9. hdl:10316/45814. PMID 25749980.
3. ^ Albuquerque, David; Nóbrega, Clévio; Manco, Licínio; Padez, Cristina (7 July 2017). "The contribution of genetics and environment to obesity". British Medical Bulletin. Advance articles (1): 159–173. doi:10.1093/bmb/ldx022. PMID 28910990.
4. ^ Kushner, Robert (2007). Treatment of the Obese Patient (Contemporary Endocrinology). Totowa, NJ: Humana Press. p. 158. ISBN 978-1-59745-400-1. Retrieved April 5, 2009.
5. ^ Adams JP, Murphy PG (July 2000). "Obesity in anaesthesia and intensive care". Br J Anaesth. 85 (1): 91–108. doi:10.1093/bja/85.1.91. PMID 10927998.
6. ^ Yang W, Kelly T, He J (2007). "Genetic epidemiology of obesity". Epidemiol Rev. 29: 49–61. doi:10.1093/epirev/mxm004. PMID 17566051.
7. ^ Poirier P, Giles TD, Bray GA, et al. (May 2006). "Obesity and cardiovascular disease: pathophysiology, evaluation, and effect of weight loss". Arterioscler. Thromb. Vasc. Biol. 26 (5): 968–76. CiteSeerX 10.1.1.508.7066. doi:10.1161/01.ATV.0000216787.85457.f3. PMID 16627822.
8. ^ Hainer, Vojtĕch; Hermann Toplak; Asimina Mitrakou (February 2008). "Treatment Modalities of Obesity: What fits whom?". Diabetes Care. 31: 269–277. doi:10.2337/dc08-s265. PMID 18227496.
9. ^ Lee YS (January 2009). "The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature" (PDF). Ann. Acad. Med. Singap. 38 (1): 34–44. PMID 19221669. Archived from the original (PDF) on 2011-07-21. Retrieved 2009-06-08.
10. ^ "Researchers discover DNA variants significantly influence body fat distribution". medicalxpress.com. Retrieved 2019-03-12.
11. ^ Lindgren, Cecilia M.; North, Kari E.; Loos, Ruth J. F.; Cupples, L. Adrienne; Hirschhorn, Joel N.; Kutalik, Zoltán; Rotter, Jerome I.; Mohlke, Karen L.; Lettre, Guillaume (18 February 2019). "Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution". Nature Genetics. 51 (3): 452–469. doi:10.1038/s41588-018-0334-2. ISSN 1546-1718. PMC 6560635. PMID 30778226.
12. ^ Willer CJ, Speliotes EK, Loos RJ, et al. (January 2009). "Six new loci associated with body mass index highlight a neuronal influence on body weight regulation". Nat. Genet. 41 (1): 25–34. doi:10.1038/ng.287. PMC 2695662. PMID 19079261.
13. ^ "OMIM - OBESITY". Retrieved 2009-06-08.
14. ^ a b c d e f g h Zhao J, Bradfield JP, Li M, et al. (May 2009). "The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI". Obesity (Silver Spring). 17 (12): 2254–7. doi:10.1038/oby.2009.159. PMC 2860782. PMID 19478790.
15. ^ a b Feitosa MF, Borecki IB, Rich SS, et al. (January 2002). "Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study". Am. J. Hum. Genet. 70 (1): 72–82. doi:10.1086/338144. PMC 384905. PMID 11713718.
16. ^ a b Atwood LD, Heard-Costa NL, Cupples LA, Jaquish CE, Wilson PW, D'Agostino RB (November 2002). "Genomewide Linkage Analysis of Body Mass Index across 28 Years of the Framingham Heart Study". Am. J. Hum. Genet. 71 (5): 1044–50. doi:10.1086/343822. PMC 385083. PMID 12355400.
17. ^ a b Gorlova OY, Amos CI, Wang NW, Shete S, Turner ST, Boerwinkle E (June 2003). "Genetic linkage and imprinting effects on body mass index in children and young adults". Eur. J. Hum. Genet. 11 (6): 425–32. doi:10.1038/sj.ejhg.5200979. PMID 12774034.
18. ^ Frayling TM, Timpson NJ, Weedon MN, et al. (2007). "A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity". Science. 316 (5826): 889–94. doi:10.1126/science.1141634. PMC 2646098. PMID 17434869.
19. ^ Rampersaud E, Mitchell BD, Pollin TI, et al. (2008). "Physical activity and the association of common FTO gene variants with body mass index and obesity". Arch Intern Med. 168 (16): 1791–97. doi:10.1001/archinte.168.16.1791. PMC 3635949. PMID 18779467.
20. ^ Skoblov, Mikhail; Andrey Marakhonov; Ekaterina Marakasova; Anna Guskova; Vikas Chandhoke; Aybike Birerdinc; Ancha Baranova (2013). "Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development". BioEssays. 35 (7): 586–596. doi:10.1002/bies.201300002. PMID 23592240.
21. ^ Small KS, Hedman AK, Grundberg E, et al. (June 2011). "Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes". Nat. Genet. 43 (6): 561–4. doi:10.1038/ng.833. PMC 3192952. PMID 21572415.
22. ^ a b c Renström F, Payne F, Nordström A, et al. (April 2009). "Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden". Hum. Mol. Genet. 18 (8): 1489–96. doi:10.1093/hmg/ddp041. PMC 2664142. PMID 19164386.
23. ^ Meyre, David; Delplanque, Jérôme; Chèvre, Jean-Claude; Lecoeur, CéCile; Lobbens, StéPhane; Gallina, Sophie; Durand, Emmanuelle; Vatin, Vincent; et al. (18 January 2009). "Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations". Nature Genetics. 41 (2): 157–9. doi:10.1038/ng.301. PMID 19151714.
24. ^ Heid, Iris M.; Jackson, Anne U.; Randall, Joshua C.; Winkler, Thomas W.; Qi, Lu; Steinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Zillikens, M. Carola; Speliotes, Elizabeth K. (November 2010). "Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution". Nature Genetics. 42 (11): 949–960. doi:10.1038/ng.685. ISSN 1546-1718. PMC 3000924. PMID 20935629.
25. ^ Steinberg, Gregory R.; Kemp, Bruce E.; Watt, Matthew J. (October 2007). "Adipocyte triglyceride lipase expression in human obesity". American Journal of Physiology. Endocrinology and Metabolism. 293 (4): E958–964. doi:10.1152/ajpendo.00235.2007. ISSN 0193-1849. PMID 17609260.
26. ^ Bürger, Marco; Zimmermann, Tobias J.; Kondoh, Yasumitsu; Stege, Patricia; Watanabe, Nobumoto; Osada, Hiroyuki; Waldmann, Herbert; Vetter, Ingrid R. (January 2012). "Crystal structure of the predicted phospholipase LYPLAL1 reveals unexpected functional plasticity despite close relationship to acyl protein thioesterases". Journal of Lipid Research. 53 (1): 43–50. doi:10.1194/jlr.M019851. ISSN 1539-7262. PMC 3243480. PMID 22052940.
27. ^ Kolata, Gina (2007). Rethinking thin: The new science of weight loss - and the myths and realities of dieting. Picador. p. 122. ISBN 978-0-312-42785-6.
28. ^ Chakravarthy MV, Booth FW (2004). "Eating, exercise, and "thrifty" genotypes: Connecting the dots toward an evolutionary understanding of modern chronic diseases". J. Appl. Physiol. 96 (1): 3–10. doi:10.1152/japplphysiol.00757.2003. PMID 14660491.
29. ^ Wells JC (February 2009). "Ethnic variability in adiposity and cardiovascular risk: the variable disease selection hypothesis". Int J Epidemiol. 38 (1): 63–71. doi:10.1093/ije/dyn183. PMID 18820320.
30. ^ Garland Jr, Theodore; Schutz, Heidi; Chappell, Mark A.; Keeney, Brooke K.; Meek, Thomas H.; Copes, Lynn E.; Acosta, Wendy; Drenowatz, Clemens; Maciel, Robert C.; van Dijk, Gertjan; Kotz, Catherine M.; Eisenmann, Joey C. (2011). "The biological control of voluntary exercise, spontaneous physical activity and daily energy expenditure in relation to obesity: human and rodent perspectives". J. Exp. Biol. 214 (2): 206–29. doi:10.1242/jeb.048397. PMC 3008631. PMID 21177942.
31. ^ Parks BW, Nam E, Org E, Kostem E, Norheim F, Hui ST, Pan C, Civelek M, Rau CD, Bennett BJ, Mehrabian M, Ursell LK, He A, Castellani LW, Zinker B, Kirby M, Drake TA, Drevon CA, Knight R, Gargalovic P, Kirchgessner T, Eskin E, Lusis AJ (2013). "Genetic control of obesity and gut microbiota composition in response to high-fat, high-sucrose diet in mice". Cell Metab. 17 (1): 141–52. doi:10.1016/j.cmet.2012.12.007. PMC 3545283. PMID 23312289.
32. ^ Yang, Wenjie; Tanika Kelly; Jiang He (June 12, 2007). "Genetic Epidemiology of Obesity". Epidemiologic Reviews. 29: 49–61. doi:10.1093/epirev/mxm004. PMID 17566051.
33. ^ Walley AJ, Asher JE, Froguel P (June 2009). "The genetic contribution to non-syndromic human obesity". Nat. Rev. Genet. 10 (7): 431–42. doi:10.1038/nrg2594. PMID 19506576.
34. ^ Farooqi, I. Sadaf; O’Rahilly, Stephen (2006). "Genetics of Obesity in Humans". Endocrine Reviews. 27 (7): 710–718. doi:10.1210/er.2006-0040. PMID 17122358.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Genetics of obesity
|
None
| 25,278 |
wikipedia
|
https://en.wikipedia.org/wiki/Genetics_of_obesity
| 2021-01-18T19:06:34 |
{"orphanet": ["77828"], "synonyms": [], "wikidata": ["Q5532952"]}
|
A number sign (#) is used with this entry because spinocerebellar ataxia 23 (SCA23) is caused by heterozygous mutation in the PDYN gene (131340).
Description
Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Clinical Features
Verbeek et al. (2004) reported a Dutch family with autosomal dominant late-onset spinocerebellar ataxia affecting at least 13 members spanning 3 generations. In the 5 affected family members who were examined, age at onset ranged from 43 to 56 years, and the disorder was slowly progressive. Clinical features included gait and limb ataxia, with variable dysarthria, slow saccades, ocular dysmetria, and decreased vibratory sense below the knees. Four affected individuals showed hyperreflexia, 2 of whom also had extensor plantar responses. Only 1 patient, with a disease duration of 23 years, was wheelchair-bound. MRI of that patient showed severe cerebellar atrophy. Postmortem examination of 1 patient showed frontotemporal atrophy, atrophy of the cerebellar vermis, pons, and spinal cord. There was neuronal loss in the cerebellar vermis, dentate nuclei, and inferior olives, but not in the pons. There was also thinning of the cerebellopontine tracts and demyelination of the posterior and lateral columns of the spinal cord.
Bakalkin et al. (2010) reported 2 Dutch sibs with SCA23. The sister was initially diagnosed with essential tremor of head and postural arms in mid-adulthood and showed memory deficits beginning around age 50. Neurologic exam at age 53 showed slowed mental processes, slight dysarthria, mild ataxia of upper and lower limbs, postural arm and head tremor, proximal paresis of the legs with mild signs of sensory neuropathy, and bilateral pes cavus. Her 54-year-old brother, who had always been clumsy, showed gait impairment and slowing, head tremor, gaze fixation instability, very mild dysarthria, action tremor of the hands, and a subtle ataxia of the hands and arms. The mother, who was not examined, had mild late-onset ataxia and tremor, and probably had dementia. Two additional unrelated affected individuals had slowly progressive gait and upper limb ataxia and distal sensory neuropathy. One had oculomotor abnormalities, pyramidal signs of the legs, and parkinsonian features; brain MRI of the other patient showed generalized cerebral cortical and subcortical atrophy, agenesis of the corpus callosum, and prominent atrophy of the cerebellar vermis, the pons, and the inferior olivary nucleus.
Mapping
By genomewide linkage analysis of a large Dutch family, Verbeek et al. (2004) identified a candidate disease locus, termed SCA23, on chromosome 20p13-p12.3 (maximum 2-point lod score of 3.46 at marker D20S199). Haplotype analysis identified a 18.2-cM region between the tip of the short arm of chromosome 20 and D20S194. Molecular analysis excluded mutations in the SKIP3 (607898), PRNP (176640), and PRND (604263) genes.
Molecular Genetics
In affected members of the family with SCA23 reported by Verbeek et al. (2004), Bakalkin et al. (2010) identified a heterozygous mutation in the PDYN gene (R138S; 131340.0001). Screening of 1,100 additional Dutch ataxia patients revealed 3 more PDYN mutations: 1 in 2 sibs (R215C; 131340.0002) and 1 each in 2 additional unrelated patients with no family history of the disorder (L211S, 131340.0003 and R212W, 131340.0004, respectively). These findings indicated that SCA23 is an uncommon cause of SCA (0.5%) in the Dutch population. Cellular studies and studies on patient cerebellar tissue implicated 2 possible pathogenic mechanisms: upregulation of dynorphin A, which may have neurodegenerative effects or cause changes in opioid activity, or accumulation of mutant PDYN that cannot be properly processed and is toxic to Purkinje cells.
Population Genetics
Schicks et al. (2011) did not identify mutations in the PDYN gene in 104 German families with autosomal dominant SCA who were negative for common SCA-causing repeat expansions and SCA-associated mutations in other genes, suggesting that SCA23 is rare in central European populations.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Slow saccades \- Ocular dysmetria NEUROLOGIC Central Nervous System \- Gait ataxia \- Limb ataxia \- Dysarthria \- Hyperreflexia \- Tremor (1 patient) \- Mild cognitive decline (1 patient) \- Extensor plantar responses \- Cortical and subcortical atrophy (1 patient) \- Agenesis of the corpus callosum (1 patient) \- Cerebellar atrophy \- Neuronal loss in the Purkinje cell layer of the cerebellar vermis \- Neuronal loss in the dentate nuclei \- Neuronal loss in the inferior olives \- Thinning of the cerebellopontine tracts \- Demyelination of the posterior and lateral columns of the spinal cord Peripheral Nervous System \- Decreased vibratory sense in the lower limbs \- Mixed axonal polyneuropathy MISCELLANEOUS \- Onset after age 40 years \- Slowly progressive MOLECULAR BASIS \- Caused by mutation in the prodynorphin gene (PDYN, 131340.0001 ) ▲ 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
|
SPINOCEREBELLAR ATAXIA 23
|
c1853250
| 25,279 |
omim
|
https://www.omim.org/entry/610245
| 2019-09-22T16:04:51 |
{"doid": ["0050973"], "mesh": ["C537201"], "omim": ["610245"], "orphanet": ["101108"]}
|
A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chandler syndrome
|
c0544008
| 25,280 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98979
| 2021-01-23T18:12:23 |
{"gard": ["6033"], "mesh": ["D057129"], "umls": ["C0544008", "C1096100"], "icd-10": ["H21.2"]}
|
Carcinoma that derives from squamous epithelial cells
Squamous cell carcinomas (SCCs), also known as epidermoid carcinomas, comprise a number of different types of cancer that result from squamous cells.[1] These cells form on the surface of the skin, on the lining of hollow organs in the body, and on the lining of the respiratory and digestive tracts.[1]
Common types include:
* Squamous cell skin cancer: A type of skin cancer
* Squamous-cell carcinoma of the lung: A type of lung cancer
* Squamous cell thyroid carcinoma: A type of thyroid cancer
* Esophageal squamous cell carcinoma: A type of esophageal cancer
* Squamous-cell carcinoma of the vagina: A type of vaginal cancer
Despite sharing the name "squamous cell carcinoma", the SCCs of different body sites can show differences in their presented symptoms, natural history, prognosis, and response to treatment.
## Contents
* 1 By body location
* 1.1 Head and neck cancer
* 1.2 Thyroid
* 1.3 Esophagus
* 1.4 Lung
* 1.5 Penis
* 1.6 Prostate
* 1.7 Vagina and cervix
* 1.8 Bladder
* 2 Diagnosis
* 2.1 Classification
* 2.1.1 Tissue of origin
* 2.1.2 Other histopathologic subtypes
* 3 Prevention
* 4 References
## By body location[edit]
Human papillomavirus infection has been associated with SCCs of the oropharynx, lung,[2] fingers,[3] and anogenital region.
### Head and neck cancer[edit]
A large head and neck squamous cell carcinoma of the tongue as seen on CT imaging
Main article: Head and neck cancer
About 90%[4] of cases of head and neck cancer (cancer of the mouth, nasal cavity, nasopharynx, throat and associated structures) are due to SCC.
### Thyroid[edit]
Main article: Squamous cell thyroid carcinoma
Primary squamous cell thyroid carcinoma shows an aggressive biological phenotype resulting in poor prognosis for patients.[5]
### Esophagus[edit]
Esophageal cancer may be due to either esophageal squamous cell carcinoma (ESCC) or adenocarcinoma (EAC). SCCs tend to occur closer to the mouth, while adenocarcinomas occur closer to the stomach. Dysphagia (difficulty swallowing, solids worse than liquids) and painful swallowing are common initial symptoms. If the disease is localized, surgical removal of the affected esophagus may offer the possibility of a cure. If the disease has spread, chemotherapy and radiotherapy are commonly used.
### Lung[edit]
Main article: Squamous cell carcinoma of the lung
Photograph of a squamous cell carcinoma: Tumour is on the left, obstructing the bronchus (lung), beyond the tumour, the bronchus is inflamed and contains mucus.
When associated with the lung, it is typically a centrally located large-cell cancer (nonsmall-cell lung cancer). It often has a paraneoplastic syndrome causing ectopic production of parathyroid hormone-related protein, resulting in hypercalcemia, but paraneoplastic syndrome is more commonly associated with small-cell lung cancer. It is primarily due to smoking.[6]
### Penis[edit]
Human papillomavirus (HPV), primarily HPV 16 and 18, are strongly implicated in the development of SCC of the penis. Three carcinomas in situ are associated with SCCs of the penis:
1. Bowen's disease presents as leukoplakia on the shaft. Around a third of cases progress to SCC.
2. Erythroplasia of Queyrat, a variation of Bowen's disease, presents as erythroplakia on the glans.
3. Bowenoid papulosis, which histologically resembles Bowen disease, presents as reddish papules.[7]
### Prostate[edit]
When associated with the prostate, squamous cell carcinoma is very aggressive in nature. It is difficult to detect as no increase in prostate-specific antigen levels is seen, meaning that the cancer is often diagnosed at an advanced stage.
### Vagina and cervix[edit]
Vaginal SCC spreads slowly and usually stays near the vagina, but may spread to the lungs and liver. This is the most common type of vaginal cancer.
### Bladder[edit]
Most bladder cancer is transitional cell, but bladder cancer associated with schistosomiasis is often SCC.
## Diagnosis[edit]
Biopsy of a highly differentiated squamous cell carcinoma of the mouth. Typical squamous-cell carcinoma cells are large with abundant eosinophilic cytoplasm and large, often vesicular, nuclei.[8] Haematoxylin & eosin stain
Medical history, physical examination and medical imaging may suggest a squamous cell carcinoma, but a biopsy for histopathology generally establishes the diagnosis. TP63 staining is the main histological marker for Squamous cell carcinoma. In addition, TP63 is an essential transcription factor to establish squamous cell identity.[9]
### Classification[edit]
Cancer can be considered a very large and exceptionally heterogeneous family of malignant diseases, with squamous cell carcinomas comprising one of the largest subsets.[10][11][12] All SCC lesions are thought to begin via the repeated, uncontrolled division of cancer stem cells of epithelial lineage or characteristics.[citation needed] SCCs arise from squamous cells, which are flat cells that line many areas of the body. Accumulation of these cancer cells causes a microscopic focus of abnormal cells that are, at least initially, locally confined within the specific tissue in which the progenitor cell resided. This condition is called squamous cell carcinoma in situ, and it is diagnosed when the tumor has not yet penetrated the basement membrane or other delimiting structure to invade adjacent tissues. Once the lesion has grown and progressed to the point where it has breached, penetrated, and infiltrated adjacent structures, it is referred to as "invasive" squamous cell carcinoma. Once a carcinoma becomes invasive, it is able to spread to other organs and cause the formation of a metastasis, or "secondary tumor".
#### Tissue of origin[edit]
The International Classification of Diseases for Oncology (ICD-O) system lists a number of morphological subtypes and variants of malignant squamous cell neoplasms, including:[13]
* Papillary thyroid carcinoma (code 8050/3)
* Verrucous squamous cell carcinoma (code 8051/3)
* Papillary squamous cell carcinoma (code 8052/3)
* Squamous cell carcinoma (code 8070/3)
* Large-cell keratinizing squamous cell carcinoma (code 8071/3)
* Large-cell nonkeratinizing squamous cell carcinoma (code 8072/3)
* Small-cell keratinizing squamous cell carcinoma (code 8073/3)
* Spindle-cell squamous cell carcinoma (code 8074/3) It is also known as spindle-cell carcinoma,[14]) and is a subtype characterized by spindle-shaped atypical cells.[15]
* Adenoid/pseudoglandular squamous cell carcinoma (code 8075/3)
* Intraepidermal squamous cell carcinoma (code 8081/3)
* Lymphoepithelial carcinoma (code 8082/3)
Other variants of SCCs are recognized under other systems, such as keratoacanthoma.
#### Other histopathologic subtypes[edit]
* Erythroplasia of Queyrat
* Marjolin's ulcer is a type of SCC that arises from a nonhealing ulcer or burn wound. More recent evidence, however, suggests that genetic differences exist between SCC and Marjolin's ulcer, which were previously underappreciated.[16]
One method of classifying squamous cell carcinomas is by their appearance under microscope. Subtypes may include:
* Adenoid squamous cell carcinoma (also known as pseudoglandular squamous cell carcinoma) is characterized by a tubular microscopic pattern and keratinocyte acantholysis.[15]
* Basaloid squamous cell carcinoma is characterized by a predilection for the tongue base.[15]
* Clear-cell squamous cell carcinoma (also known as clear-cell carcinoma of the skin) is characterized by keratinocytes that appear clear as a result of hydropic swelling.[15]
* Signet ring-cell squamous cell carcinoma (occasionally rendered as signet ring-cell squamous cell carcinoma) is a histological variant characterized by concentric rings composed of keratin and large vacuoles corresponding to markedly dilated endoplasmic reticulum.[15] These vacuoles grow to such an extent that they radically displace the cell nucleus toward the cell membrane, giving the cell a distinctive superficial resemblance to a "signet ring" when viewed under a microscope.
* Adenoid squamous cell carcinoma
* Basaloid squamous cell carcinoma
* Clear-cell squamous cell carcinoma
* Spindle-cell squamous cell carcinoma
## Prevention[edit]
Studies have found evidences for an association between diet and skin cancers, including SCC. The consumption of high-fat dairy foods increases SCC tumor risk in people with previous skin cancer. Green leafy vegetables may help prevent development of subsequent SCC and multiple studies found that raw vegetables and fruits are significantly protective against SCC risk.[17][18] On the other hand, consumption of whole milk, yogurt, and cheese may increase SCC risk in susceptible people. [19] In addition, meat and fat dietary pattern can increase the risk of SCC in people without a history of SCC, but the association is again more prominent in people with a history of skin cancer.[20] Tobacco smoking and a dietary pattern characterized by high beer and liquor intake also increase the risk of SCC significantly.[21][17]
## References[edit]
1. ^ a b "NCI Dictionary of Cancer Terms". National Cancer Institute. 2011-02-02. Retrieved 9 November 2016.
2. ^ Yu Y, Yang A, Hu S, Yan H (June 2009). "Correlation of HPV-16/18 infection of human papillomavirus with lung squamous cell carcinomas in Western China". Oncology Reports. 21 (6): 1627–32. doi:10.3892/or_00000397. PMID 19424646.
3. ^ "Recurrent Squamous Cell Carcinoma In Situ of the Finger". Retrieved 2010-09-22.
4. ^ "Types of head and neck cancer - Understanding - Macmillan Cancer Support". Retrieved 15 March 2017.
5. ^ Syed MI, Stewart M, Syed S, Dahill S, Adams C, McLellan DR, Clark LJ (January 2011). "Squamous cell carcinoma of the thyroid gland: primary or secondary disease?". The Journal of Laryngology and Otology. 125 (1): 3–9. doi:10.1017/S0022215110002070. PMID 20950510.
6. ^ Pooler C, Hannon RA, Porth C, Matfin G (2010). Porth pathophysiology: concepts of altered health states (1st Canadian ed.). Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 660. ISBN 978-1-60547-781-7.
7. ^ Robbins S, Kumar V, Abbas A, Fausto N (2007). Robbins Basic Pathology (8th ed.). Philadelphia: Saunders/Elsevier. p. 688. ISBN 978-1-4160-2973-1.
8. ^ Dr Nicholas Turnbull, A/Prof Patrick Emanual (2014-05-03). "Squamous cell carcinoma pathology". DermNetz.
9. ^ Prieto-Garcia C, Hartmann O, Reissland M, Braun F, Fischer T, Walz S, et al. (April 2020). "Maintaining protein stability of ∆Np63 via USP28 is required by squamous cancer cells". EMBO Molecular Medicine. 12 (4): e11101. doi:10.15252/emmm.201911101. PMID 32128997.
10. ^ Berman JJ (November 2004). "Tumor taxonomy for the developmental lineage classification of neoplasms". BMC Cancer. 4 (1): 88. doi:10.1186/1471-2407-4-88. PMC 535937. PMID 15571625.
11. ^ Berman JJ (March 2004). "Tumor classification: molecular analysis meets Aristotle". BMC Cancer. 4 (1): 10. doi:10.1186/1471-2407-4-10. PMC 415552. PMID 15113444.
12. ^ Travis WD, Brambilla E, Muller-Hermelink HK, Harris CC, eds. (2004). Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart (PDF). World Health Organization Classification of Tumours. Lyon: IARC Press. ISBN 978-92-832-2418-1. Retrieved 27 March 2010.
13. ^ World Health Organization. International Classification of Diseases for Oncology, Second Edition. Geneva, Switzerland: World Health Organization, 1990.
14. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
15. ^ a b c d e Fitzpatrick TB, Freedberg IM, eds. (2003). Fitzpatrick's dermatology in general medicine (6th ed.). New York, NY: McGraw-Hill. p. 743. ISBN 978-0-07-138076-8.
16. ^ Sinha S, Su S, Workentine M, Agabalyan N, Cheng M, Gabriel V, Biernaskie J (January 2017). "Transcriptional Analysis Reveals Evidence of Chronically Impeded ECM Turnover and Epithelium-to-Mesenchyme Transition in Scar Tissue Giving Rise to Marjolin's Ulcer". Journal of Burn Care & Research. 38 (1): e14–e22. doi:10.1097/BCR.0000000000000432. PMID 27679957.
17. ^ a b De Stefani E, Deneo-Pellegrini H, Ronco AL, Boffetta P, Brennan P, Muñoz N, Castellsagué X, Correa P, Mendilaharsu M (October 2003). "Food groups and risk of squamous cell carcinoma of the oesophagus: a case-control study in Uruguay". British Journal of Cancer. 89 (7): 1209–14. doi:10.1038/sj.bjc.6601239. PMC 2394307. PMID 14520448.
18. ^ Chen YK, Lee CH, Wu IC, Liu JS, Wu DC, Lee JM, Goan YG, Chou SH, Huang CT, Lee CY, Hung HC, Yang JF, Wu MT (July 2009). "Food intake and the occurrence of squamous cell carcinoma in different sections of the esophagus in Taiwanese men". Nutrition. 25 (7–8): 753–61. doi:10.1016/j.nut.2009.02.002. PMID 19394796.
19. ^ Hughes MC, van der Pols JC, Marks GC, Green AC (October 2006). "Food intake and risk of squamous cell carcinoma of the skin in a community: the Nambour skin cancer cohort study". International Journal of Cancer. 119 (8): 1953–60. doi:10.1002/ijc.22061. PMID 16721782.
20. ^ Ibiebele TI, van der Pols JC, Hughes MC, Marks GC, Williams GM, Green AC (May 2007). "Dietary pattern in association with squamous cell carcinoma of the skin: a prospective study". The American Journal of Clinical Nutrition. 85 (5): 1401–8. doi:10.1093/ajcn/85.5.1401. PMID 17490979.
21. ^ Bahmanyar S, Ye W (2006). "Dietary patterns and risk of squamous-cell carcinoma and adenocarcinoma of the esophagus and adenocarcinoma of the gastric cardia: a population-based case-control study in Sweden". Nutrition and Cancer. 54 (2): 171–8. doi:10.1207/s15327914nc5402_3. PMID 16898861.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Squamous cell carcinoma
|
c0007137
| 25,281 |
wikipedia
|
https://en.wikipedia.org/wiki/Squamous_cell_carcinoma
| 2021-01-18T18:32:47 |
{"gard": ["1091"], "mesh": ["D002294"], "umls": ["C0007137", "C0751688"], "wikidata": ["Q681817"]}
|
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
|
c1849401
| 25,282 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3085
| 2021-01-23T17:13:25 |
{"gard": ["4683"], "mesh": ["C564841"], "omim": ["268020"], "umls": ["C1849401"], "icd-10": ["Q87.8"], "synonyms": ["Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome", "Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"]}
|
Glossitis [1]
Glossitis in a person with scarlet fever ("red strawberry tongue").
SpecialtyGastroenterology
Glossitis can mean soreness of the tongue, or more usually inflammation with depapillation of the dorsal surface of the tongue (loss of the lingual papillae), leaving a smooth and erythematous (reddened) surface,[2][3] (sometimes specifically termed atrophic glossitis). In a wider sense, glossitis can mean inflammation of the tongue generally.[4] Glossitis is often caused by nutritional deficiencies and may be painless or cause discomfort. Glossitis usually responds well to treatment if the cause is identified and corrected. Tongue soreness caused by glossitis is differentiated from burning mouth syndrome, where there is no identifiable change in the appearance of the tongue, and there are no identifiable causes.[5]
## Contents
* 1 Symptoms
* 2 Causes
* 2.1 Anemias
* 2.2 Vitamin B deficiencies
* 2.3 Infections
* 2.4 Other causes
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Atrophic glossitis
* 3.1.2 Median rhomboid glossitis
* 3.1.3 Benign migratory glossitis
* 3.1.4 Geometric glossitis
* 3.1.5 Strawberry tongue
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Symptoms[edit]
Patchy depapillation of filiform papillae with prominence of the fungiform papillae.
Depending upon what exact meaning of the word glossitis is implied, signs and symptoms might include:
* Smooth, shiny appearance of the tongue, caused by loss of lingual papillae.
* Tongue color changes, usually to a darker red color than the normal white-pink color of a healthy tongue.
* Tongue swelling.
* Difficulty with chewing, swallowing, or speaking (either because of tongue soreness or tongue swelling).
* Burning sensation.[2] Some use the term secondary burning mouth syndrome in cases where a detectable cause, such as glossitis, for an oral burning sensation.[5]
Depending upon the underlying cause, there may be additional signs and symptoms such as pallor, oral ulceration and angular cheilitis.[2]
## Causes[edit]
### Anemias[edit]
Iron-deficiency anemia is mainly caused by blood loss, such as may occur during menses or gastrointestinal hemorrhage. This often results in a depapilled, atrophic glossitis, giving the tongue a bald and shiny appearance, along with pallor (paleness) of the lips and other mucous membranes a tendency towards recurrent oral ulceration,[6] and cheilosis (swelling of the lips).[7] The appearance of the tongue in iron deficiency anemia has been described as diffuse or patchy atrophy with tenderness or burning.[8] One cause of iron deficiency anemia is sideropenic dysphagia (Plummer–Vinson or Paterson–Brown–Kelly syndrome) which is also characterized by esophageal webbing and dysphagia.[6]
Pernicious anemia is usually caused by autoimmune destruction of gastric parietal cells. Parietal cells secrete intrinsic factor which is required for the absorption of vitamin B12. Vitamin B12 deficiency results in megaloblastic anemia and may present as glossitis. The appearance of the tongue in vitamin B12 deficiency is described as "beefy" or "fiery red and sore".[6] There may be linear or patchy red lesions.[2]
### Vitamin B deficiencies[edit]
Vitamin B1 deficiency (thiamin deficiency) can cause glossitis.[7] Vitamin B2 deficiency (ariboflavinosis) can cause glossitis, along with angular cheilitis, cheilosis, peripheral neuropathy and other signs and symptoms.[7] The glossitis in vitamin B2 deficiency is described as magenta.[9] Vitamin B3 deficiency (pellagra) can cause glossitis.[7] Vitamin B6 deficiency (pyridoxine deficiency) can cause glossitis, along with angular cheilitis, cheilosis, peripheral neuropathy and seborrheic dermatitis.[7] Folate deficiency (vitamin B9 deficiency) can cause glossitis, along with macrocytic anemia, thrombocytopenia, leukopenia, diarrhea, fatigue and possibly neurological signs.[7] Apart from pernicious anemia discussed above, any other cause of vitamin B12 deficiency can cause glossitis, which tends to be painful, smooth and shiny.[7]
### Infections[edit]
Bacterial, viral or fungal infections can cause glossitis. Chronic Candida infections of the tongue can cause an atrophic glossitis known as median rhomboid glossitis.[10]
Syphilis is now relatively rare, but the tertiary stage can cause diffuse glossitis and atrophy of lingual papillae, termed "syphilitic glossitis",[2] "luetic glossitis" or "atrophic glossitis of tertiary syphilis".[8] It is caused by Treponema pallidum and is a sexually transmitted infection.
### Other causes[edit]
Many conditions can cause glossitis via malnutrition or malabsorption,[7] which creates the nutritional deficiencies described above, although other mechanisms may be involved in some of those conditions listed.
* Alcoholism[7]
* Sprue (celiac disease,[11] or tropical sprue), secondary to nutritional deficiencies[7]
* Crohn’s disease[7]
* Whipple disease[7]
* Glucagonoma syndrome[7]
* Cowden disease[7]
* Acquired immunodeficiency syndrome (AIDS)[7]
* Carcinoid syndrome[7]
* Kwashiorkor amyloidosis[7]
* Veganism and other specialized diets,[2]
* Poor hydration and low saliva in the mouth, which allows bacteria to grow more readily
* Mechanical irritation or injury from burns, rough edges of teeth or dental appliances, or other trauma
* Tongue piercing[12] Glossitis can be caused by the constant irritation by the ornament and by colonization of Candida albicans in site and on the ornament[13]
* Exposure to irritants such as tobacco, alcohol, hot foods, or spices
* Allergic reaction to toothpaste, mouthwash, breath fresheners, dyes in confectionery, plastic in dentures or retainers, or certain blood-pressure medications (ACE inhibitors)
* Administration of ganglion blockers (e.g., Tubocurarine, Mecamylamine).
* Oral lichen planus, erythema multiforme, aphthous ulcer, pemphigus vulgaris
* Heredity
* Albuterol (bronchodilator medicine)
A painful tongue may be an indication of an underlying serious medical condition and nearly always merits assessment by a physician or dental surgeon.
## Diagnosis[edit]
### Classification[edit]
Median rhomboid glossitis
Geographic tongue (benign migratory glossitis)
Glossitis could be classified as a group of tongue diseases or gastrointestinal diseases.[4] It may be primary, where there is no underlying cause, or secondary where it is a sign or symptom of another condition.[3] It can be acute or chronic.[4] Generally speaking, there are several clinical patterns of glossitis, some more common than others.
#### Atrophic glossitis[edit]
Atrophic glossitis, also known as bald tongue,[3] smooth tongue, Hunter glossitis, Moeller glossitis, or Möller-Hunter glossitis,[14] is a condition characterized by a smooth glossy tongue that is often tender/painful,[15] caused by complete atrophy of the lingual papillae (depapillation).[3] The dorsal tongue surface may be affected totally, or in patches, and may be associated with a burning sensation, pain and/or erythema.[16] Atrophic glossitis is a non-specific finding,[16] and has a great many causes, usually related to iron-deficiency anemia, pernicious anemia, B vitamin complex deficiencies,[16] unrecognized and untreated celiac disease (which often presents without gastrointestinal symptoms),[17][18][19] or other factors such as xerostomia (dry mouth). Although the terms Möller and Hunter glossitis were originally used to refer to specifically the glossitis that occurs in vitamin B12 deficiency secondary to pernicious anemia, they are now used as synonyms for atrophic glossitis generally.[14] In this article, the term glossitis, unless otherwise specified, refers to atrophic glossitis.
Candidiasis may be a concurrent finding or an alternative cause of erythema, burning, and atrophy.
#### Median rhomboid glossitis[edit]
Main article: Median rhomboid glossitis
This condition is characterized by a persistent erythematous, rhomboidal depapillated lesion in the central area of the dorsum of the tongue, just in front of the circumvallate papillae.[2][15] Median rhomboid glossitis is a type of oral candidiasis, and rarely causes any symptoms. It is treated with antifungal medication. Predisposing factors include use of corticosteroid sprays or inhalers or immunosuppression.
#### Benign migratory glossitis[edit]
Main article: Geographic tongue
Geographic tongue, also termed benign migratory glossitis, is a common condition which usually affects the dorsal surface of the tongue. It is characterized by patches of depapillation and erythema bordered by a whitish peripheral zone. These patches give the tongue the appearance of a map, hence the name. Unlike glossitis due to nutritional deficiencies and anemia, the lesions of geographic tongue move around the tongue over time.[20] This is because in geographic tongue, new areas of the tongue become involved with the condition whilst previously affected areas heal, giving the appearance of a moving lesion.[3] The cause is unknown,[21] and there is no curative treatment. Rarely are there any symptoms associated with the lesions, but occasionally a burning sensation may be present, which is exacerbated by eating hot, spicy or acidic foodstuffs. Some consider geographic tongue to be an early stage of fissured tongue, since the two conditions often occur in combination.[22]
#### Geometric glossitis[edit]
Geometric glossitis, also termed herpetic geometric glossitis,[4] is a term used by some to refer to a chronic lesion associated with herpes simplex virus (HSV) type I infection,[23] in which there is a deep fissure in the midline of the tongue, which gives off multiple branches.[8] The lesion is usually very painful, and there may be erosions present in the depths of the fissures. Similar fissured lesions which are not associated with HSV, as may occur in fissured tongue, do not tend to be painful.[23] The name comes from the geometric pattern of the fissures which are longitudinal, crossed or branched.[24] It is described as occurring in immunocompromized persons, e.g. who have leukemia. However, the association between herpes simplex and geometric glossitis is disputed by some due to a lack of gold standard techniques for diagnosis of intraoral herpetic lesions, and the high prevalence of asymptomatic viral shedding in immunocompromized individuals.[8] Treatment is with systemic aciclovir.[23]
#### Strawberry tongue[edit]
Distinct strawberry tongue with "parched" lips as seen in a young child with Kawasaki disease.
Strawberry tongue, or raspberry tongue,[25] is glossitis which manifests with hyperplastic (enlarged) fungiform papillae, giving the appearance of a strawberry. White strawberry tongue is where there is a white coating on the tongue through which the hyperplastic fungiform papillae protrude. Red strawberry tongue is where the white coating is lost and a dark red, erythematous surface is revealed, interspaced with the hyperplastic fungiform papillae. White strawberry tongue is seen in early scarlet fever (a systemic infection of group A β- hemolytic streptococci),[26] and red strawberry tongue occurs later, after 4–5 days.[8] Strawberry tongue is also seen in Kawasaki disease (a vasculitic disorder primarily occurring in children under 5),[27][28] and toxic shock syndrome.[29] It may mimic other types of glossitis or Vitamin B12 deficiency.[30]
## Treatment[edit]
The goal of treatment is to reduce inflammation. Treatment usually does not require hospitalization unless tongue swelling is severe. Good oral hygiene is necessary, including thorough tooth brushing at least twice a day, and flossing at least daily. Corticosteroids such as prednisone may be given to reduce the inflammation of glossitis. For mild cases, topical applications (such as a prednisone mouth rinse that is not swallowed) may be recommended to avoid the side effects of swallowed or injected corticosteroids. Antibiotics, antifungal medications, or other antimicrobials may be prescribed if the cause of glossitis is an infection. Anemia and nutritional deficiencies (such as a deficiency in niacin, riboflavin, iron, or Vitamin E) must be treated, often by dietary changes or other supplements. Avoid irritants (such as hot or spicy foods, alcohol, and tobacco) to minimize the discomfort. In some cases, tongue swelling may threaten the airway, a medical emergency that needs immediate attention.
## Epidemiology[edit]
One review reported overall prevalence ranges of 0.1–14.3% for geographic tongue, 1.3–9.0% for "atrophy tongue" (atrophic glossitis), and 0.0–3.35% for median rhomboid glossitis.[31]
## References[edit]
1. ^ "Glossitis: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 26 April 2019.
2. ^ a b c d e f g Scully, Crispian (2008). Oral and maxillofacial medicine : the basis of diagnosis and treatment (2nd ed.). Edinburgh: Churchill Livingstone. p. 356. ISBN 978-0443068188.
3. ^ a b c d e Rogers, K, eds. (2010). The digestive system (1st ed.). New York, NY: Britannica Educational Pub., in association with Rosen Educational Services. p. 146. ISBN 978-1615301317.
4. ^ a b c d Frank J. Domino (editor-in-chief), Robert A. Baldor, associate editors, eds. (2012-03-07). The 5-minute clinical consult 2012 (20th ed.). Philadelphia, Pa.: Wolters Kluwer Health/Lippincott Williams & Wilkins. pp. 532–33. ISBN 978-1451103038.
5. ^ a b McMillan, Roddy; Forssell, Heli; Buchanan, John Ag; Glenny, Anne-Marie; Weldon, Jo C.; Zakrzewska, Joanna M. (2016). "Interventions for treating burning mouth syndrome". The Cochrane Database of Systematic Reviews. 11: CD002779. doi:10.1002/14651858.CD002779.pub3. ISSN 1469-493X. PMC 6464255. PMID 27855478.
6. ^ a b c Treister NS, Bruch JM (2010). Clinical oral medicine and pathology. New York: Humana Press. pp. 149. ISBN 978-1-60327-519-4.
7. ^ a b c d e f g h i j k l m n o p q Tadataka Yamada, David H. Alpers, et al., eds. (2009). Textbook of gastroenterology (5th ed.). Chichester, West Sussex: Blackwell Pub. pp. 1717–1744. ISBN 978-1-4051-6911-0.
8. ^ a b c d e Neville BW, Damm DD, Allen CA, Bouquot JE (2002). Oral & maxillofacial pathology (2nd ed.). Philadelphia: W.B. Saunders. pp. 169, 170. ISBN 0721690033.
9. ^ Park, KK; Brodell RT; Helms SE. (July 2011). "Angular cheilitis, part 2: nutritional, systemic, and drug-related causes and treatment" (PDF). Cutis. 88 (1): 27–32. PMID 21877503. Archived from the original (PDF) on 2014-04-19.
10. ^ Patil, S; Rao, RS; Majumdar, B; Anil, S (2015). "Clinical Appearance of Oral Candida Infection and Therapeutic Strategies". Front Microbiol. 6: 1391. doi:10.3389/fmicb.2015.01391. PMC 4681845. PMID 26733948.
11. ^ Pastore L, Carroccio A, Compilato D, Panzarella V, Serpico R, Lo Muzio L (March 2008). "Oral manifestations of celiac disease". J. Clin. Gastroenterol. 42 (3): 224–32. doi:10.1097/MCG.0b013e318074dd98. hdl:10447/1671. PMID 18223505. S2CID 205776755.
12. ^ Levin L, Zadik Y (October 2007). "Oral piercing: complications and side effects". Am J Dent. 20 (5): 340–4. PMID 17993034.
13. ^ Zadik Y, Burnstein S, Derazne E, Sandler V, Ianculovici C, Halperin T (March 2010). "Colonization of Candida: prevalence among tongue-pierced and non-pierced immunocompetent adults". Oral Dis. 16 (2): 172–5. doi:10.1111/j.1601-0825.2009.01618.x. PMID 19732353.
14. ^ a b O. Braun-Falco (2000). Dermatology (2nd ed.). Berlin [u.a.]: Springer. p. 1173. ISBN 3540594523.
15. ^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology (14th ed.). Saunders Elsevier. p. 803. ISBN 0721629210.
16. ^ a b c Chi AC, Neville BW, Krayer JW, Gonsalves WC (December 2010). "Oral manifestations of systemic disease". Am Fam Physician (review). 82 (11): 1381–8. PMID 21121523.
17. ^ Rashid M, Zarkadas M, Anca A, Limeback H (2011). "Oral manifestations of celiac disease: a clinical guide for dentists". J Can Dent Assoc (Review). 77: b39. PMID 21507289.
18. ^ "Dental Enamel Defects and Celiac Disease" (PDF). National Institute of Health (NIH). Archived from the original (PDF) on March 5, 2016. Retrieved Mar 7, 2016. "Tooth defects that result from celiac disease may resemble those caused by too much fluoride or a maternal or early childhood illness. Dentists mostly say it’s from fluoride, that the mother took tetracycline, or that there was an illness early on"
19. ^ Giuca MR, Cei G, Gigli F, Gandini P (2010). "Oral signs in the diagnosis of celiac disease: review of the literature". Minerva Stomatol (Review). 59 (1–2): 33–43. PMID 20212408. "There are enough evidence making the correlation between CD and oral defects scientifically sustainable. This recognition should lead dentists to play more significant roles in screening for CD, as otherwise, if not properly diagnosed and not treated with a gluten-free diet, may eventually cause some malignancies."
20. ^ Adeyemo, TA; Adeyemo, WL; Adediran, A; Akinbami, AJ; Akanmu, AS (May–Jun 2011). "Orofacial manifestations of hematological disorders: anemia and hemostatic disorders". Indian Journal of Dental Research. 22 (3): 454–61. doi:10.4103/0970-9290.87070. PMID 22048588.
21. ^ Reamy, BV; Derby, R; Bunt, CW (Mar 1, 2010). "Common tongue conditions in primary care". American Family Physician. 81 (5): 627–34. PMID 20187599.
22. ^ Greenberg, MS; Glick, M; Ship, JA (2008). Burket's oral medicine (11th ed.). Hamilton, Ont.: BC Decker. ISBN 978-1550093452.
23. ^ a b c Cohen, PR; Kazi, S; Grossman, ME (December 1995). "Herpetic geometric glossitis: a distinctive pattern of lingual herpes simplex virus infection". Southern Medical Journal. 88 (12): 1231–35. doi:10.1097/00007611-199512000-00009. PMID 7502116.
24. ^ Grossman, ME; Stevens, AW; Cohen, PR (Dec 16, 1993). "Brief report: herpetic geometric glossitis". The New England Journal of Medicine. 329 (25): 1859–60. doi:10.1056/NEJM199312163292506. PMID 8247038.
25. ^ Scott Stocking, associate editor, Jyothimai Gubili, eds. (2004). Mosby's dental dictionary. St. Louis, Mo.: Mosby. ISBN 978-0323025102.
26. ^ Yang SG, Dong HJ, Li FR, et al. (November 2007). "Report and analysis of a scarlet fever outbreak among adults through food-borne transmission in China". J. Infect. 55 (5): 419–24. doi:10.1016/j.jinf.2007.07.011. PMID 17719644.
27. ^ Singh, S; Kansra, S (Jan–Feb 2005). "Kawasaki disease". The National Medical Journal of India. 18 (1): 20–24. PMID 15835487.
28. ^ Park AH, Batchra N, Rowley A, Hotaling A (May 1997). "Patterns of Kawasaki syndrome presentation". Int. J. Pediatr. Otorhinolaryngol. 40 (1): 41–50. doi:10.1016/S0165-5876(97)01494-8. PMID 9184977.
29. ^ Baehler EA, Dillon WP, Cumbo TJ, Lee RV (August 1982). "Prolonged use of a diaphragm and toxic shock syndrome". Fertil. Steril. 38 (2): 248–50. doi:10.1016/s0015-0282(16)46467-8. PMID 7106318.
30. ^ Gary Williams; Murray Katcher. "Skin Lesions: Strawberry Tongue". Primary Care Dermatology Module (University of Wisconsin Madison). Retrieved 2007-08-14.
31. ^ Dombi C, Czeglédy A (November 1992). "[Incidence of tongue diseases based on epidemiologic studies (review of the literature)]". Fogorv Sz (in Hungarian). 85 (11): 335–41. PMID 1291323.
## External links[edit]
Classification
D
* ICD-10: K14.0
* ICD-9-CM: 529.0
* MeSH: D005928
* DiseasesDB: 5252
External resources
* MedlinePlus: 001053
* 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
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*[v]: View this template
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|
Glossitis
|
c0017675
| 25,283 |
wikipedia
|
https://en.wikipedia.org/wiki/Glossitis
| 2021-01-18T18:39:22 |
{"mesh": ["D005928"], "umls": ["C0017675"], "wikidata": ["Q1324237"]}
|
Choroideremia
Other namesCHM, Tapetochoroidal dystrophy
An example pedigree chart, showing the inheritance of a sex-linked disorder like choroideremia.
SpecialtyOphthalmology
SymptomsProgressive vision loss
Usual onsetChildhood
DurationChronic
CausesGenetic
Diagnostic methodGenetic testing, family history, fundus examination
Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.[1]
Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid.[2][3]
As of 2019, there is no treatment for choroideremia; however, retinal gene therapy clinical trials have demonstrated a possible treatment.[4]
## Contents
* 1 Presentation
* 2 Diagnosis
* 3 Management
* 3.1 Gene therapy
* 3.2 Preimplantation genetic diagnosis
* 3.3 Other potential therapies
* 4 Research
* 4.1 History
* 4.2 Basic research
* 5 Culture
* 6 References
* 7 Further reading
* 8 External links
## Presentation[edit]
Since the CHM gene is located on the X chromosome, symptoms are seen almost exclusively in men. While there are a few exceptions, female carriers have a noticeable lack of pigmentation in the RPE but do not experience any symptoms.[5] Female carriers have a 50% chance of having either an affected son or a carrier daughter, while a male with choroideremia will have all carrier daughters and unaffected sons.
Even though the disease progression can vary significantly,[1][6] there are general trends. The first symptom many individuals with choroideremia notice is a significant loss of night vision, which begins in youth.[7] Peripheral vision loss occurs gradually, starting as a ring of vision loss, and continuing on to "tunnel vision" in adulthood.[8] Individuals with choroideremia tend to maintain good visual acuity into their 40s, but eventually lose all sight at some point in the 50–70 age range.[8] A study of 115 individuals with choroideremia found that 84% of patients under the age of 60 had a visual acuity of 20/40 or better, while 33% of patients over 60 years old had a visual acuity of 20/200 or worse. The most severe visual acuity impairment (only being able to count fingers or worse) did not occur until the seventh decade of life. The same study found the mean rate of visual acuity loss to be about 0.09 logMAR per 5 years, which is roughly 1 row on a Snellen chart.[2]
## Diagnosis[edit]
A diagnosis of choroideremia can be made based on family history, symptoms and the characteristic appearance of the fundus.[9] However, choroideremia shares several clinical features with retinitis pigmentosa, a similar but broader group of retinal degenerative diseases, making a specific diagnosis difficult without genetic testing. Because of this choroideremia is often initially misdiagnosed as retinitis pigmentosa.[10] A variety of different genetic testing techniques can be used to make a differential diagnosis.[11][12]
## Management[edit]
While nothing currently can be done to stop or reverse the retinal degeneration, there are steps that can be taken to slow the rate of vision loss. UV-blocking sunglasses for outdoors, appropriate dietary intake of fresh fruit and leafy green vegetables, antioxidant vitamin supplements, and regular intake of dietary omega-3 very-long-chain fatty acids are all recommended.[8] One study found that a dietary supplement of lutein increases macular pigment levels in patients with choroideremia. Over a long period of time, these elevated levels of pigmentation "could" slow retinal degeneration.[13] Additional interventions that may be needed include surgical correction of retinal detachment and cataracts, low vision services, and counseling to help cope with depression, loss of independence, and anxiety over job loss.[8]
### Gene therapy[edit]
See also: Gene therapy of the human retina
Gene therapy is currently not a treatment option, however human clinical trials for both choroideremia and Leber's congenital amaurosis (LCA) have produced somewhat promising results.[14]
Clinical trials of gene therapy for patients with LCA began in 2008 at three different sites.[15][16][17][18] In general, these studies found the therapy to be safe, somewhat effective, and promising as a future treatment for similar retinal diseases.
In 2011, the first gene therapy treatment for choroideremia was administered.[19] The surgery was performed by Robert MacLaren, Professor of Ophthalmology at the University of Oxford and leader of the Clinical Ophthalmology Research Group at the Nuffield Laboratory of Ophthalmology (NLO).[14][20][21] In the study, 2 doses of the AAV.REP1 vector were injected subretinally in 12 patients with choroideremia. There study had 2 objectives:
* to assess the safety and tolerability of the AAV.REP1 vector
* to observe the therapeutic benefit, or slowing of the retinal degeneration, of the gene therapy during the study and at a 24-month post-treatment time point[22]
Despite retinal detachment caused by the injection, the study observed initial improved rod and cone function, warranting further study.
In 2016, researchers were optimistic that the positive results of 32 choroideremia patients treated over four and a half years with gene therapy in four countries could be long-lasting.[23]
### Preimplantation genetic diagnosis[edit]
For women who carry a mutation in the CHM gene, preimplantation genetic diagnosis can be used during the in-vitro fertilization process to select unaffected embryos to implant.[24] This process call be applied to any monogenic disease.
### Other potential therapies[edit]
While choroideremia is an ideal candidate for gene therapy[2] there are other potential therapies that could restore vision after it has been lost later in life. Foremost of these is stem cell therapy. A clinical trial published in 2014 found that a subretinal injection of human embryonic stem cells in patients with age-related macular degeneration and Stargardt disease was safe and improved vision in most patients. Out of 18 patients, vision improved in 10, improved or remained the same in 7, and decreased in 1 patient, while no improvement was seen in the untreated eyes. The study found "no evidence of adverse proliferation, rejection, or serious ocular or systemic safety issues related to the transplanted tissue."[25][26] A 2015 study used CRISPR/Cas9 to repair mutations in patient-derived induced pluripotent stem cells that cause X-linked retinitis pigmentosa.[27] This study suggests that a patient's own repaired cells could be used for therapy, reducing the risk of immune rejection and ethical issues that come with the use of embryonic stem cells.
## Research[edit]
### History[edit]
Choroideremia was first described in 1872 by an Austrian ophthalmologist, Ludwig Mauthner.[9] Initially, the condition was thought to be a developmental disorder which caused the absence of a majority of the choroid (hence the probable use of the ancient Greek suffix “eremia,” meaning barren land or desert).[9] After several decades, the non-progressive nature of the disease was called into doubt, eventually being rejected by Paymerer et al. in 1960.[9][28] The CHM gene was identified and cloned in 1990 by Frans P.M. Cremers.[29]
### Basic research[edit]
In many inherited retinal diseases the protein affected by the mutation is directly involved in the light sensing function of the eye, however this is not the case in choroideremia.[9] REP1 assists the prenylation of Rab G-proteins by binding and presenting them to the Rab geranylgeranyltransferase subunit.[30] REP1 also escorts prenylated Rabs through the cytoplasm by binding the hydrophobic prenyl groups and carrying them to a specific destination membrane.[30]
In healthy individuals, REP1 is found throughout all of the cells of the body, however patients with choroideremia only experience vision loss, and not broader, systemic symptoms (with the exception of a study that found crystals and fatty acid abnormalities in leukocytes).[31] REP2, a protein that is 75% identical and 90% similar to REP1, is able to significantly compensate for the loss of REP1 outside the eye.[9][32] It is thought that REP2 is not able to fully compensate for the loss of REP1 in the retina.[9] RAB27A, a Rab that has essential functions in the retina,[33] has been shown to be preferentially prenylated by REP1.[34] Additionally, the Rab27a-REP1 and Rab27a-REP2 complexes have different affinities for the Rab geranylgeranyltransferase enzyme, possibly explaining REP2's inability to fully compensate for REP1 in the retina.[34]
## Culture[edit]
A number of individuals in public roles are living with choroidermia, and some have been involved in fundraising efforts for the disease. The former UK Labour Member of Parliament Siôn Simon is a known to have the condition.[35] Comic and activist E.J. Scott, partner of Daredevil actress Deborah Ann Woll, also has choroideremia, and is involved in regular fundraising efforts.[36][37]
## References[edit]
1. ^ a b Kärnä, J (1986). "Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers". Acta Ophthalmologica Supplement. 176: 1–68. PMID 3014804.
2. ^ a b c Roberts, MF; Fishman, GA; Roberts, DK; Heckenlively, JR; Weleber, RG; Anderson, RJ; Grover, S (June 2002). "Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia". The British Journal of Ophthalmology. 86 (6): 658–62. doi:10.1136/bjo.86.6.658. PMC 1771148. PMID 12034689.
3. ^ Aleman, TS; Han, G; Serrano, LW; Fuerst, NM; Charlson, ES; Pearson, DJ; Chung, DC; Traband, A; Pan, W; Ying, GS; Bennett, J; Maguire, AM; Morgan, JI (13 December 2016). "Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study". Ophthalmology. 124 (3): 359–373. doi:10.1016/j.ophtha.2016.10.022. PMC 5319901. PMID 27986385.
4. ^ Abigail Beall, 2014, "Gene therapy restores sight in people with eye disease," New Scientist (online), January 16, 2014, see [1], accessed 21 January 2017.
5. ^ Dugel, Pravin U.; Zimmer, Cheryl N.; Shahidi, Ayda M. (July 2016). "A case study of choroideremia carrier – Use of multi-spectral imaging in highlighting clinical features". American Journal of Ophthalmology Case Reports. 2: 18–22. doi:10.1016/j.ajoc.2016.04.003. PMC 5757363. PMID 29503891.
6. ^ Strunnikova, N; Zein, WM; Silvin, C; MacDonald, IM (2012). Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia. Advances in Experimental Medicine and Biology. 723. pp. 381–7. doi:10.1007/978-1-4614-0631-0_49. ISBN 978-1-4614-0630-3. PMID 22183356.
7. ^ Khan, Kamron N.; Islam, Farrah; Moore, Anthony T.; Michaelides, Michel (October 2016). "Clinical and Genetic Features of Choroideremia in Childhood". Ophthalmology (Submitted manuscript). 123 (10): 2158–2165. doi:10.1016/j.ophtha.2016.06.051. PMID 27506488.
8. ^ a b c d MacDonald, Ian M.; Hume, Stacey; Chan, Stephanie; Seabra, Miguel C. (February 26, 2015). "Choroideremia". GeneReviews. University of Washington, Seattle.
9. ^ a b c d e f g Barnard, A. R.; Groppe, M.; MacLaren, R. E. (30 October 2014). "Gene Therapy for Choroideremia Using an Adeno-Associated Viral (AAV) Vector". Cold Spring Harbor Perspectives in Medicine. 5 (3): a017293. doi:10.1101/cshperspect.a017293. PMC 4355255. PMID 25359548.
10. ^ Guo, Hui; Li, Jisheng; Gao, Fei; Li, Jiangxia; Wu, Xinyi; Liu, Qiji (28 July 2015). "Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa". BMC Ophthalmology. 15 (1): 85. doi:10.1186/s12886-015-0081-4. PMC 4517409. PMID 26216097.
11. ^ Sanchez-Alcudia, Rocio; Garcia-Hoyos, Maria; Lopez-Martinez, Miguel Angel; Sanchez-Bolivar, Noelia; Zurita, Olga; Gimenez, Ascension; Villaverde, Cristina; Rodrigues-Jacy da Silva, Luciana; Corton, Marta; Perez-Carro, Raquel; Torriano, Simona; Kalatzis, Vasiliki; Rivolta, Carlo; Avila-Fernandez, Almudena; Lorda, Isabel; Trujillo-Tiebas, Maria J.; Garcia-Sandoval, Blanca; Lopez-Molina, Maria Isabel; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Ayuso, Carmen; Janecke, Andreas R. (12 April 2016). "A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice". PLOS ONE. 11 (4): e0151943. Bibcode:2016PLoSO..1151943S. doi:10.1371/journal.pone.0151943. PMC 4829155. PMID 27070432.
12. ^ Furgoch, MJ; Mewes-Arès, J; Radziwon, A; Macdonald, IM (25 April 2014). "Molecular genetic diagnostic techniques in choroideremia". Molecular Vision. 20: 535–44. PMC 4000712. PMID 24791138.
13. ^ Duncan, JL; Aleman, TS; Gardner, LM; De Castro, E; Marks, DA; Emmons, JM; Bieber, ML; Steinberg, JD; Bennett, J; Stone, EM; MacDonald, IM; Cideciyan, AV; Maguire, MG; Jacobson, SG (March 2002). "Macular pigment and lutein supplementation in choroideremia". Experimental Eye Research. 74 (3): 371–81. doi:10.1006/exer.2001.1126. PMID 12014918.
14. ^ a b Pallab Ghosh, 2011, "Health: Gene therapy used in a bid to save a man's sight," at BBC News (online), October 27, 2011, see [2], accessed 23 April 2015.
15. ^ Cideciyan A. V.; Hauswirth W. W.; Aleman T. S.; Kaushal S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year". Human Gene Therapy. 20 (9): 999–1004. doi:10.1089/hum.2009.086. PMC 2829287. PMID 19583479.
16. ^ Simonelli F.; Maguire A. M.; Testa F.; Pierce E. A.; Mingozzi F.; Bennicelli J. L.; Rossi S.; et al. (2010). "Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration". Molecular Therapy. 18 (3): 643–650. doi:10.1038/mt.2009.277. PMC 2839440. PMID 19953081.
17. ^ Maguire A. M.; High K. A.; Auricchio A.; Wright J. F.; Pierce E. A.; Testa F.; Mingozzi F.; et al. (2009). "Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial". Lancet. 374 (9701): 1597–1605. doi:10.1016/S0140-6736(09)61836-5. PMC 4492302. PMID 19854499.
18. ^ Bainbridge J. W. B.; Smith A. J.; Barker S. S.; Robbie S.; Henderson R.; Balaggan K.; Viswanathan A.; et al. (2008). "Effect of gene therapy on visual function in Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2231–2239. CiteSeerX 10.1.1.574.4003. doi:10.1056/NEJMoa0802268. PMID 18441371.
19. ^ MacLaren, RE; Groppe, M; Barnard, AR; Cottriall, CL; Tolmachova, T; Seymour, L; Clark, KR; During, MJ; Cremers, FP; Black, GC; Lotery, AJ; Downes, SM; Webster, AR; Seabra, MC (29 March 2014). "Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial". Lancet. 383 (9923): 1129–37. doi:10.1016/s0140-6736(13)62117-0. PMC 4171740. PMID 24439297.
20. ^ Abigail Beall, 2014, "Gene therapy restores sight in people with eye disease," New Scientist (online), January 16, 2014, see [3], accessed 23 April 2015.
21. ^ Ewen Callaway, 2008, "Gene therapy success 'reverses' blindness," New Scientist (online), April 28, 2008, see [4] and [5] and [6], accessed 23 April 2015.
22. ^ CT.gov, 2014, "Gene Therapy for Blindness Caused by Choroideremia (Sponsor:University of Oxford): NCT01461213," at ClinicalTrials.gov, see [7], accessed 23 April 2015.
23. ^ Ghosh, Pallab (28 April 2016). "Gene therapy reverses sight loss and is long-lasting". BBC News, Science & Environment. Retrieved 29 April 2016.
24. ^ "Preimplantation Genetic Diagnosis: (PGD)". www.americanpregnancy.org. 2012-04-24. Retrieved 23 June 2018.
25. ^ Schwartz, SD; Regillo, CD; Lam, BL; Eliott, D; Rosenfeld, PJ; Gregori, NZ; Hubschman, JP; Davis, JL; Heilwell, G; Spirn, M; Maguire, J; Gay, R; Bateman, J; Ostrick, RM; Morris, D; Vincent, M; Anglade, E; Del Priore, LV; Lanza, R (7 February 2015). "Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies". Lancet. 385 (9967): 509–16. doi:10.1016/s0140-6736(14)61376-3. PMID 25458728. S2CID 85799.
26. ^ Duffy, Maureen. "Updated Stem Cell Clinical Trial Results for Stargardt Disease and Dry Macular Degeneration - VisionAware Blog - VisionAware". www.visionaware.org. Retrieved 23 January 2017.
27. ^ Bassuk, Alexander G.; Zheng, Andrew; Li, Yao; Tsang, Stephen H.; Mahajan, Vinit B. (27 January 2016). "Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells". Scientific Reports. 6: 19969. Bibcode:2016NatSR...619969B. doi:10.1038/srep19969. PMC 4728485. PMID 26814166.
28. ^ Pameyer, J. K.; Waardenburg, P. J.; Henkes, H. E. (1 December 1960). "CHOROIDEREMIA". The British Journal of Ophthalmology. 44 (12): 724–738. doi:10.1136/bjo.44.12.724. ISSN 0007-1161. PMC 510030. PMID 13732369.
29. ^ Cremers, Frans P. M.; van de Pol, Dorien J. R.; van Kerkhoff, Liesbeth P. M.; Wieringa, Berend; Ropers, Hans-Hilger (18 October 1990). "Cloning of a gene that is rearranged in patients with choroideraemia". Nature. 347 (6294): 674–677. Bibcode:1990Natur.347..674C. doi:10.1038/347674a0. PMID 2215697. S2CID 4347627.
30. ^ a b Pylypenko, O; Rak, A; Reents, R; Niculae, A; Sidorovitch, V; Cioaca, MD; Bessolitsyna, E; Thomä, NH; Waldmann, H; Schlichting, I; Goody, RS; Alexandrov, K (February 2003). "Structure of Rab escort protein-1 in complex with Rab geranylgeranyltransferase". Molecular Cell. 11 (2): 483–94. doi:10.1016/s1097-2765(03)00044-3. PMID 12620235.
31. ^ Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK (2015). "Choroideremia is a systemic disease With lymphocyte crystals and plasma lipid and RBC membrane abnormalities". Invest Ophthalmol Vis Sci. 56 (13): 8158–8165. doi:10.1167/iovs.14-15751. PMC 4699407. PMID 26720468.
32. ^ Cremers, FP; Armstrong, SA; Seabra, MC; Brown, MS; Goldstein, JL (21 January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. PMID 8294464.
33. ^ Tolmachova, T; Ramalho, JS; Anant, JS; Schultz, RA; Huxley, CM; Seabra, MC (18 October 1999). "Cloning, mapping and characterization of the human RAB27A gene". Gene. 239 (1): 109–16. doi:10.1016/s0378-1119(99)00371-6. PMID 10571040.
34. ^ a b Larijani, B; Hume, AN; Tarafder, AK; Seabra, MC (21 November 2003). "Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseases". The Journal of Biological Chemistry. 278 (47): 46798–804. doi:10.1074/jbc.m307799200. PMID 12941939.
35. ^ "BBC NEWS | UK | Politics | Sion Simon". news.bbc.co.uk. 2002-10-21. Retrieved 2017-01-20.
36. ^ Bill Dwyre, 2013, "Though going blind, E.J. Scott keeps looking ahead, moving forward," L.A. Times (online), January 11, 2013, see [8], accessed 23 April 2015.
37. ^ E.J. Scott, 2015, "This is my 40: Running 7 continents in 1 year, blindfolded," at Crowdrise (online crowdsourcing), undated, see [9], accessed 23 April 2015.
## Further reading[edit]
* Danny Boren, 2015, "First U.S. Gene Therapy Clinical Trial to treat Choroideremia initiated in Philadelphia," Choroideremia Research Foundation (online), Press Release Summary, January 20, 2015, see [10], accessed 23 April 2015.
* Cory MacDonald, 2015, "Nightstar Receives U.S. and European Orphan Drug Designation for Gene Therapy to Treat Choroideremia," Choroideremia Research Foundation (online), Press Release Summary, March 24, 2015 (release date, January 11), see [11], accessed 23 April 2015.
* FFB, 2015, "U.S. Human Study for Choroideremia Gene Therapy Launched by Spark Therapeutics," Foundation Fighting Blindness (online), January 27, 2015, see [12], accessed 23 April 2015.
* NLO, 2014, "First Results of Choroideremia Gene Therapy Trial (2014)," Nuffield Laboratory of Ophthalmology (online), Press Release, undated, see [13], accessed 23 April 2015.
## External links[edit]
Classification
D
* ICD-10: H31.2
* ICD-9-CM: 363.55
* OMIM: 303100
* MeSH: D015794
* DiseasesDB: 2619
* Genetic testing for Choroideremia.
* Choroideremia Research Foundation is an international not-for-profit organization dedicated to supporting the Choroideremia community
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Inherited disorders of trafficking / vesicular transport proteins
Vesicle formation
Lysosome/Melanosome:
* HPS1–HPS7
* Hermansky–Pudlak syndrome
* LYST
* Chédiak–Higashi syndrome
COPII:
* SEC23A
* Cranio-lenticulo-sutural dysplasia
* COG7
* CDOG IIE
APC:
* AP1S2
* X-linked intellectual disability
* AP3B1
* Hermansky–Pudlak syndrome 2
* AP4M1
* CPSQ3
Rab
* ARL6
* BBS3
* RAB27A
* Griscelli syndrome 2
* CHM
* Choroideremia
* MLPH
* Griscelli syndrome 3
Cytoskeleton
Myosin:
* MYO5A
* Griscelli syndrome 1
Microtubule:
* SPG4
* Hereditary spastic paraplegia 4
Kinesin:
* KIF5A
* Hereditary spastic paraplegia 10
Spectrin:
* SPTBN2
* Spinocerebellar ataxia 5
Vesicle fusion
Synaptic vesicle:
* SNAP29
* CEDNIK syndrome
* STX11
* Hemophagocytic lymphohistiocytosis 4
Caveolae:
* CAV1
* Congenital generalized lipodystrophy 3
* CAV3
* Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
Vacuolar protein sorting:
* VPS33B
* ARC syndrome
* VPS13B
* Cohen syndrome
* DYSF
* Distal muscular dystrophy
See also vesicular transport 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
|
Choroideremia
|
c0008525
| 25,284 |
wikipedia
|
https://en.wikipedia.org/wiki/Choroideremia
| 2021-01-18T18:43:37 |
{"gard": ["6061"], "mesh": ["D015794"], "umls": ["C0008525"], "orphanet": ["180"], "wikidata": ["Q2397009"]}
|
Phakomatosis pigmentokeratotica
Other namesOrganoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies [1]
SpecialtyDermatology
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus.[2]:634–5[3]:776 It is an unusual variant of epidermal naevus syndrome.[4] It was first described by Happle et al.[5] It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.[6]
## See also[edit]
* Skin lesion
* List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
## References[edit]
1. ^ "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 June 2019.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
4. ^ Hill, Virginia A; Felix, R H; Mortimer, P S; Harper, J I (2002). "Phacomatosis pigmentokeratotica". Journal of the Royal Society of Medicine. 96 (1): 30–31. doi:10.1177/014107680309600109. ISSN 0141-0768. PMC 539370. PMID 12519801.
5. ^ Happle, R; Hoffmann, R; Restano, L; Caputo, R; Tadini, G (11 November 1996). "Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome". American Journal of Medical Genetics. 65 (4): 363–5. doi:10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R. PMID 8923953.
6. ^ Tadini, G; Restano, L; Gonzáles-Pérez, R; Gonzáles-Enseñat, A; Vincente-Villa, MA; Cambiaghi, S; Marchettini, P; Mastrangelo, M; Happle, R (March 1998). "Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome". Archives of Dermatology. 134 (3): 333–7. doi:10.1001/archderm.134.3.333. PMID 9580120.
## External links[edit]
Classification
D
* ICD-10: Q85.8
* MeSH: C537893
External resources
* Orphanet: 2874
This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This Epidermal nevi, neoplasms, cysts 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
|
Phakomatosis pigmentokeratotica
|
c2931658
| 25,285 |
wikipedia
|
https://en.wikipedia.org/wiki/Phakomatosis_pigmentokeratotica
| 2021-01-18T18:57:59 |
{"mesh": ["C537893"], "umls": ["C2931658"], "orphanet": ["2874"], "wikidata": ["Q7180212"]}
|
A number sign (#) is used with this entry because of evidence that X-linked recessive Charcot-Marie-Tooth disease-3 (CMTX3) is caused by a genomic rearrangement between chromosomes 8q24.3 and Xq27.1.
For a phenotypic description and discussion of genetic heterogeneity of X-linked CMT, see CMTX1 (302800).
Clinical Features
Ionasescu et al. (1991, 1992) studied 3 families with X-linked recessive Charcot-Marie-Tooth neuropathy of the type reported by Erwin (1944). In 2 of the families, affected males had distal muscle atrophy and weakness and distal sensory loss with onset at age 10 to 14 years; in 1 of these families affected members also showed pes cavus and areflexia, and in the other family they also showed spastic paraparesis. Electrophysiologic studies were consistent with both demyelination and axonal involvement. Carrier females were unaffected. One of the families (US-PED2) reported by Ionasescu et al. (1991) was found by Chaudhry et al. (2013) to carry a heterozygous mutation in the BSCL2 gene (N88S; 606158.0013), consistent with a diagnosis of SPG17 (270685). Affected members of this family showed spastic paraparesis.
Huttner et al. (2006) reported a large Australian family (CMT623) with X-linked CMT. Male patients presented in the first decade with lower limb weakness and atrophy followed by upper limb involvement in most about 10 years later. Most patients (80%) reported pain and paresthesia as the initial sensory symptom before the onset of sensory loss. EMG studies showed variable nerve conduction velocities that were both above and below 38 m/s. There was no central nervous system involvement. The phenotype appeared to be milder than that described for CMTX1. Obligate female carriers were clinically unaffected.
Brewer et al. (2008) reported a second large Australian family (CMT193-ext) with X-linked CMT with similar clinical features to those reported by Huttner et al. (2006). Kanhangad et al. (2018) reviewed the clinical and neurophysiologic findings in family CMT193-ext, which included 10 affected boys and 1 symptomatic girl. Compared to other forms of CMT, CMTX3 was characterized by earlier onset, severe hand weakness, and more rapidly progressive disability. Age at most recent examination ranged from 2 to 19 years. Age of onset ranged from birth to 5 years in the boys, and nearly all had findings before age 2 years; age of onset in the girl was 12 years. Six boys presented with a foot deformity, and 4 presented with a gait abnormality. Equinovarus foot deformity was evident before 1 year of age in 5 children, while the other child had a mild hindfoot valgus deformity at 2 years of age. Abnormalities in hand function, identified between age 4 months and 12 years, were seen in 7 children. Scoliosis was seen in 2 children. Two children had hip dysplasia, leading the authors to recommend that children with CMTX3 have at least biennial x-ray surveillance for hip dysplasia. Nerve conduction studies showed a demyelinating sensorimotor neuropathy, with decreased nerve conduction velocity. Because of the early onset and rapid progression, many children with CMTX3 are expected to have severe disability within the first 2 decades of life. Kanhangad et al. (2018) recommended early institution of rehabilitative or surgical interventions for children with this condition.
Mapping
In 2 of the families reported by Ionasescu et al. (1991, 1992), linkage analysis showed tight linkage to Xq26 markers. The third family showed linkage to Xp22.2 (302801).
By linkage analysis of a large Australian family with X-linked CMT, Huttner et al. (2006) mapped the disorder to Xq26.3-Xq27.1 (maximum lod score of 6.58 at DXS1192) within the CMTX3 locus. Haplotype analysis delineated a 5.7-Mb region between DXS1041 and DXS8106.
Brewer et al. (2008) reported a second large Australian family with X-linked CMT mapping to the CMTX3 locus. Significant linkage was found with marker DXS984 (lod score of 4.75), and the disease haplotype was identical to that of the family reported by Huttner et al. (2006), suggesting a common founder. This shared haplotype was identified in 3 of 152 control chromosomes. The results refined the disease locus to a 2.5-Mb region between DXS984 and DXS8106. Molecular analysis excluded mutations in 10 genes within the interval. (One of the American families (US-PED2) reported by Ionasescu et al. (1991) was found to share the distal portion of the haplotype, but the disorder in that family was later found by Chaudhry et al. (2013) to be caused by a mutation in the BSCL2 gene.)
Molecular Genetics
Using whole-genome sequencing in the 2 distantly related Australian families with CMT (CMT623 and CMT193-ext) reported by Huttner et al. (2006) and Brewer et al. (2008), Brewer et al. (2016) identified a large interchromosomal insertion from chromosome 8q24.3 into the CMTX3 locus [der(X)dir ins(X;8)(q27.1;q24.3)]. Both families had previously tested negative for all known protein-coding sequence variants. The inserted region from 8q24.3 was 77,856 bp and contained a partial transcript of exons 1-7 of the ARHGAP39 gene (615880) encoded on the negative strand. The duplicated 8q24.3 sequence was inserted into an intergenic region of Xq27.1 with the nearest flanking genes being LOC389895 (located 329 kb downstream proximal to the 78 kb insertion) and SOX3 (313430) (located 84 kb distal to the insertion). The insertion segregated with the phenotype in the family, was absent in 627 control X chromosomes from 252 neurologically normal females and 123 neurologically normal males, and was confirmed by Sanger sequencing. Studies of mRNA expression levels of candidate genes showed no difference in ARHGAP39 expression, suggesting that transcriptional dysregulation of one or more genes mapping within the CMT3 locus is likely to be the mechanism of disease. This was the first report of an interchromosomal insertion causing CMT.
INHERITANCE \- X-linked recessive SKELETAL Spine \- Scoliosis Pelvis \- Hip dysplasia Feet \- Pes cavus \- Equinovarus foot deformity NEUROLOGIC Peripheral Nervous System \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- 'Steppage' gait \- Gait abnormality \- Foot drop \- Areflexia \- Distal sensory impairment, mild to moderate \- Spastic paraparesis has been reported \- Decreased nerve conduction velocities (NCV), suggesting demyelination \- Axonal involvement seen on EMG MISCELLANEOUS \- Variable age on onset, from birth to 14 years \- Usually begins in feet and legs (peroneal distribution) \- Upper limb involvement may occur later \- Both demyelinating and axonal features ▲ 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
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3
|
c1844865
| 25,286 |
omim
|
https://www.omim.org/entry/302802
| 2019-09-22T16:18:38 |
{"doid": ["0110211"], "mesh": ["C535303"], "omim": ["302802"], "orphanet": ["101077"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3"], "genereviews": ["NBK1358"]}
|
A number sign (#) is used with this entry because of evidence that hypocalcified amelogenesis imperfecta type IIIC (AI3C) is caused by homozygous mutation in the RELT gene (611211) on chromosome 11q13.
Description
Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019).
Clinical Features
Kim et al. (2019) described 3 consanguineous Turkish families with hypocalicified amelogenesis imperfecta. The proband from family 1 presented at age 7 years with advanced enamel loss of primary dentition, particularly on the occlusal surfaces of the posterior teeth. Partially erupted secondary incisors were amber-brown and showed marked surface roughness. The roughness and staining were more evident when he was examined at age 10. His anterior open bite had spared his secondary incisors from excessive wear. Both of his parents had subtle findings of enamel roughness and vertical lamellae in the maxillary central incisors, whereas his 2 brothers had normal enamel. The 14-year-old proband from family 2 presented with severe generalized enamel attrition. The enamel was hypocalcified and missing on her maxillary posterior lingual cusps. The enamel on her incisors was thin to nonexistent; however, her occlusion was normal. In family 3, a brother and sister had amelogenesis imperfecta characterized by hypocalcified, rough enamel that was worn away on the occlusal surfaces of their posterior teeth.
Molecular Genetics
By whole-exome sequencing of 3 consanguineous Turkish families segregating AI3C, Kim et al. (2019) identified 3 homozygous, presumed loss-of-function variants in the RELT gene (611211.0001-611211.0003). The parents in each family were heterozygous for the mutation.
Animal Model
Using CRISP/Cas9, Kim et al. (2019) introduced a pro396-to-ter (P396X) into a codon of the Relt gene that was homologous to the codon mutated in a patient with AI3C (see 611211.0001). The surface of the incisor enamel of Relt-null mice was rough compared to wildtype and heterozygous Relt mice. Backscattered scanning electron microscopy showed that Relt-null incisor enamel had normal thickness but was rough and generally hypomineralized.
INHERITANCE \- Autosomal recessive HEAD & NECK Teeth \- Rough enamel surface \- Yellow-brown enamel \- Hypocalcified enamel \- Loss of enamel on occlusal surface \- Anterior openbite (in 1 patient) MISCELLANEOUS \- Based on a report of 3 consanguineous Turkish families (last curated April 2019) MOLECULAR BASIS \- Caused by mutation in the receptor expressed in lymphoid tissues gene (RELT, 611211.0001 ) ▲ 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
|
AMELOGENESIS IMPERFECTA, TYPE IIIC
|
None
| 25,287 |
omim
|
https://www.omim.org/entry/618386
| 2019-09-22T15:42:12 |
{"omim": ["618386"], "synonyms": ["Alternative titles", "AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to the exfoliation syndrome (XFS) is conferred by variation in the LOXL1 gene (153456) on chromosome 15q24.
Description
Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).
Clinical Features
Forsius (1981) considered the exfoliation syndrome to be a disorder of the suspensory ligament. Secondary glaucoma results from effects of exfoliated lens material ('capsular glaucoma'). The disorder was first described by Lindberg (1917), Forsius's teacher. Forsius himself had the disorder.
Yuksel et al. (2001) described the ocular hemodynamics in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. They found that the hemodynamic parameters in the retrobulbar vessels were altered in patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma and that these alterations were more prominent in the glaucoma patients. Specifically, they found decreases in the mean peak systolic velocity of the central retinal artery as well as in the end diastolic velocities of the central retinal artery and the short posterior temporal ciliary arteries. However, the resistive indices were increased in the ophthalmic artery.
Gasch et al. (2003) concluded that XFS caused abnormalities in the zonules, ciliary body, iris, trabecular meshwork, and corneal endothelium, which could lead to significant clinical problems, including cataract surgery complications and glaucoma.
Konstas et al. (2004) performed a retrospective analysis of 167 patients with exfoliation glaucoma in Greece, Spain, Russia, and Hungary. They found that intraocular pressure reduction helped to prevent glaucoma progression in patients with exfoliation glaucoma, although it did not guarantee the prevention or worsening of the disease.
Grodum et al. (2005) found that pseudoexfoliation was a strong independent risk factor for glaucoma in patients with ocular hypertension.
Schlotzer-Schrehardt and Naumann (2006) reviewed the ocular and systemic manifestations and pathophysiology of pseudoexfoliation syndrome.
Population Genetics
In light of its peculiar population distribution, this disorder seems to have an important genetic basis (Forsius, 1981). In Finland and elsewhere in Scandinavia, it may have a frequency as high as 20% in persons over age 80 years. It is frequent in Lapps and northern-living Russians, but Forsius (1981) found it totally lacking in Eskimos. It has been found in Canada, but in persons of Scandinavian extraction. It is rare in Germany and in the United Kingdom, but frequent in Amerindians, in Greece, and in the African Bantu.
Gasch et al. (2003) reported the high prevalence of exfoliation syndrome in Azerbaijan; patients were designated as having XFS if exfoliation material was apparent on the anterior lens capsule and/or at the pupillary border during routine postdilation biomicroscopy. The youngest patient with XFS was 46 years old. XFS was present in 32% of those over 60 years of age. The prevalence increased with age. XFS was bilateral in 48% of those affected. The reported prevalence among individuals older than 60 years ranged from 0% among Eskimos to 38% among the Navajo of New Mexico.
Krishnadas et al. (2003) determined the prevalence and risk factors for pseudoexfoliation in a rural population of southern India. The prevalence was 6.0%, increased with age, and was greater in males. Prevalence of glaucoma among patients with pseudoexfoliation was 7.5%; exfoliation was present in 26.7% of patients with primary open-angle glaucoma. Pseudoexfoliation also increased the risks of operative complications during cataract surgery.
Rotchford et al. (2003) determined the prevalence and clinical features of XFS among black South Africans. They examined 1,840 individuals, 40 years of age or older, from Hlabisa and Temba. Prevalence of XFS was 7.7% in Hlabisa and 6.0% in Temba. Prevalence increased with age, with 18.9% (Hlabisa) and 16.5% (Temba) of those aged 70 years or older affected. Clinical appearance was similar to that reported in other ethnic groups. Exfoliative glaucoma accounted for approximately one-fourth of open-angle glaucoma (OAG) cases. Among patients with XFS and OAG, 16 of 18 were blind in one or both eyes. Rotchford et al. (2003) concluded that open-angle glaucoma associated with XFS appeared to be associated with a poor prognosis.
Pasquale et al. (2014) detailed lifetime solar exposure in individuals with XFS in the United States (118 cases and 106 controls) and in Israel (67 cases and 72 controls). In multivariable analyses, each degree of weighted lifetime average residential latitude away from the equator was associated with 11% increased odds of XFS.
Pathogenesis
There is evidence (Streeten et al., 1986) that pseudoexfoliation syndrome is a type of elastosis associated with the excess synthesis of elastic microfibrillar components such as fibrillin-1 (FBN1; 134797). Because TGF-beta is a major modulator of extracellular matrix formation (see TGFB1, 190180), Schlotzer-Schrehardt et al. (2001) analyzed the expression of various forms of TGF-beta and the TGFB1 latent form binding proteins LTBP1 (150390) and LTBP2 (602091) in anterior segment tissues, aqueous humor, serum, and Tenon's capsule biopsy tissue from patients with PEXS and controls. Significantly increased concentrations of both total and active TGFB1 were found in the aqueous humor of PEXS eyes with and without glaucoma compared to controls, and the expression of TGFB1, LTBP1, and LTBP2 was markedly increased in anterior segment tissues of PEXS eyes, particularly in the nonpigmented epithelium of the ciliary body. Latent TGFB1 staining was consistently associated with PEXS material deposits, and double immunolabeling revealed clear colocalization of LTBP1 and LTBP2 with latent TGFB1 and FBN1 on PEXS fibrils. FBN1 mRNA expression was upregulated in vitro by TGFB1. Schlotzer-Schrehardt et al. (2001) concluded that TGFB1, LTBP1, and LTBP2 play a significant role in PEX syndrome.
Adenosine is increasingly released in metabolic stress conditions, such as hypoxia or ischemia, and regulates many physiologic processes, such as aqueous humor secretion and intraocular pressure, via activation of the adenosine receptors. Schlotzer-Schrehardt et al. (2005) reported that, while all 4 adenosine receptor subtypes (ADORA1, 102775; ADORA2A, 102776; ADORA2B, 600446; and ADORA3, 600445) were coexpressed in the ciliary body of control eyes, a selective, approximately 10-fold upregulation of ADORA3 mRNA and protein was consistently found in the nonpigmented ciliary epithelium of all eyes from patients with pseudoexfoliation of the lens, with or without glaucoma. All all 4 adenosine receptor subtypes were differently distributed in the ciliary epithelium of control eyes, with the A3 receptor being localized to the basolateral membrane infoldings of the nonpigmented epithelial cells.
Zenkel et al. (2006) investigated the role of the extracellular chaperone clusterin in the pathophysiology of pseudoexfoliation syndrome/glaucoma, which is characterized by the stable deposition of abnormal extracellular fibrillar material in anterior segment tissues. Clusterin mRNA was ubiquitously expressed in most ocular cells and tissues, particularly in the epithelium of ciliary processes, whereas the protein usually localized in extracellular structures, such as ocular basement membranes and stromal fibers. However, in XFS eyes, significant downregulation of clusterin mRNA was seen in all anterior segment tissues, irrespective of the presence of or type of glaucoma, compared with normal and glaucomatous control eyes. Posterior segment tissues did not show any differential expression. Clusterin levels in aqueous humor were significantly reduced in eyes with XFS. The expression of clusterin mRNA and protein in nonpigmented ciliary epithelial cells was significantly downregulated by TGF-beta-1 (TGFB1; 190180) in vitro. Considering the known role of clusterin as a highly efficient extracellular chaperone, Zenkel et al. (2006) concluded that its deficiency in the anterior segment of XFS eyes might promote the stress-induced aggregation and stable deposition of the pathologic extracellular matrix product characteristic of XFS syndrome.
Using a proteomic approach, Ovodenko et al. (2007) identified novel components of the lenticular exfoliation material, including cell adhesion molecules, extracellular matrix proteins, prostaglandins, complement proteins, matrix metalloproteases, and specific inhibitors.
Ye et al. (2015) noted that there is a high prevalence of PEXS in the Uighur population. They studied lens capsule specimens from 10 PEXS Kashi Uighur patients and 10 age-related cataract patients from the same population. Hypermethylation in 6 CpG islands of the LOXL1 gene promoter was higher in the PEXS patients compared with the cataract only patients. In addition, LOXL1 mRNA and protein expression levels were lower in the PEXS patients. Ye et al. (2015) suggested that epigenetic regulation might play a role in the pathogenesis of PEXS.
Inheritance
Orr et al. (2001) developed a clinical grading scheme for exfoliation syndrome and examined a total of 782 patients and relatives in Maritime Canada, ascertaining 467 'definitely affected' individuals. Approximately 30 multiplex families were discovered, including a family with 23 affected individuals among 137 examined members. Orr et al. (2001) observed well-documented paternal transmission, and noted that the clustering of cases in families provided evidence for the involvement of genetic factors. The possibility of homozygosity was suggested in a few patients by the earlier or more frequent presentation of the disorder in the offspring of 2 affected parents or consanguineous pairings. Although a multifactorial mode of inheritance could not be excluded, Orr et al. (2001) stated that exfoliation syndrome appears to be inherited as an autosomal dominant trait with late onset and incomplete penetrance, which pose significant obstacles to pedigree construction. The authors also noted that only 30 (4.1%) of the 731 gradable participants in this study, mostly younger relatives, were found to have no evidence of the disorder, making it difficult to define an exfoliative 'control' state with certainty on the basis of clinical examination.
Mapping
Thorleifsson et al. (2007) performed a genomewide search which yielded multiple SNPs in the chromosome 15q24.1 region associated with glaucoma. Further investigation revealed that the association was confined to exfoliation glaucoma (XFG).
### Associations Pending Confirmation
Krumbiegel et al. (2011) performed a genomewide association study using a DNA-pooling approach involving 80 German patients with PEX syndrome, 80 with PEX glaucoma (PEXG), and 80 controls, with replication in independent German and Italian cohorts of PEXS/PEXG patients and controls. They identified 2 SNPs, located in intron 11 of the CNTNAP2 gene (604569) on chromosome 7q35-q36, that were associated with PEXS/PEXG in both the discovery and replication German cohorts (rs2107856 and rs2141388, combined corrected p = 0.0108 and 0.0072, respectively); the association was not confirmed in the Italian cohort.
Molecular Genetics
Thorleifsson et al. (2007) performed a genomewide search which yielded multiple SNPs in the chromosome 15q24.1 region associated with glaucoma. Further investigation revealed that the association was confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the LOXL1 gene, rs1048661 (153456.0001) and rs3825942 (153456.0002), explained the association, and the data suggested that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low risk haplotypes. The population-attributable risk of the 2 higher risk haplotypes is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
In a Caucasian Australian population-based cohort of 2,508 individuals, 86 (3.4%) of whom were diagnosed with pseudoexfoliation syndrome, Hewitt et al. (2008) confirmed that 2 previously identified nonsynonymous variants in exon 1 of LOXL1, R141L (rs1048661) and G153D (rs3825942), were strongly associated with pseudoexfoliation: 2 copies of the high-risk haplotype at these SNPs conferred a risk of 7.20 (95% CI, 3.04 to 20.75) compared to no copies of the high-risk haplotype. Hewitt et al. (2008) noted that their Caucasian population had a 9-fold lower lifetime incidence of pseudoexfoliation syndrome compared to the Nordic populations studied by Thorleifsson et al. (2007) despite having similar allelic architecture at the LOXL1 locus, and suggested that genetic or environmental factors independent of LOXL1 strongly influence the phenotypic expression of the syndrome.
In a case-control study of 59 Finnish patients with XFS, 82 with XFG, 71 patients with primary open-angle glaucoma (see POAG, 137760), and 26 unaffected individuals, and in a family study of 28 patients with XFS or XFG and 92 unaffected relatives from an extended Finnish family, Lemmela et al. (2009) analyzed 3 SNPs in the LOXL1 gene, the 2 previously studied exonic SNPs rs1048661 and rs3825942, and a SNP in intron 1, rs2165241 (153456.0003). In both studies, the strongest association was with the intronic SNP rs2165241 (p = 2.62 x 10(-13) and p less than 0.0001, respectively); however, no linkage was observed for LOXL1 risk alleles. The corresponding 3-locus haplotype GGT increased the risk of XFS/XFG nearly 15-fold relative to the low-risk GAC haplotype (p = 1.6 x 10(-16)).
In an analysis of 50 black South African patients with XFS and 50 age- and gender-matched controls, Hauser et al. (2015) identified a peak XFS-associated region at the LOXL1 exon 1/intron 1 boundary, which lies in a potential regulatory region for the long noncoding RNA LOXL1AS1 (616800). They replicated the association in populations of European and Asian ancestry. DNase I hypersensitivity sites were found within the region of interest, and in vitro luciferase assays demonstrated that this associated region contains promoter activity and that XFS-associated genetic variants alter this promoter. However, the region did not enhance LOXL1 promoter activity. In addition, Hauser et al. (2015) identified an LOXL1AS1 isoform that is broadly expressed in tissues known to be affected in XFS and demonstrated that the expression of LOXL1AS1 is significantly altered in response to oxidative stress and cyclic mechanical stress in ocular cells. Hauser et al. (2015) suggested that LOXL1AS1 dysregulation contributes to XFS pathogenesis.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Abnormal fibrillar extracellular material in anterior segment tissues \- Lens pseudoexfoliation \- Cataract, nuclear \- Abnormal lens suspensory ligament \- Lens subluxation \- Phacodonesis \- Poor mydriasis \- Asymmetric pupil sizes \- Pigment deposition in the trabecular meshwork \- Open-angle glaucoma due to pupillary and ciliary block \- Asymmetry of intraocular pressure \- Atypical cornea guttata \- Iris rigidity \- Melanin dispersion in iris \- 'Moth-eaten' pattern of peripupillary atrophy \- Iris hypoperfusion resulting from degenerated stromal vessels \- Pseudouveitis due to breakdown of blood-aqueous barrier \- Retinal vein occlusion MISCELLANEOUS \- Prevalence rates average 10-20% of the general population over age 60 \- Regional, racial, and ethnic clustering has been noted MOLECULAR BASIS \- Susceptibility conferred by mutation in the lysyl oxidase-like 1 gene (LOXL1, 153456.0001 ) ▲ 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
|
EXFOLIATION SYNDROME
|
c0206368
| 25,288 |
omim
|
https://www.omim.org/entry/177650
| 2019-09-22T16:35:35 |
{"doid": ["13641"], "mesh": ["D017889"], "omim": ["177650"], "icd-9": ["365.52"], "synonyms": ["Alternative titles", "EXFOLIATION GLAUCOMA", "PSEUDOEXFOLIATION GLAUCOMA", "PSEUDOEXFOLIATION OF THE LENS", "PSEUDOEXFOLIATION SYNDROME"]}
|
Guanidinoacetate methyltransferase deficiency
Other namesGAMT deficiency
SpecialtyMedical genetics
Causesdeficiency of guanidinoacetate methyltransferase
Treatmentdietary adjustment and creatine supplementation
Guanidinoacetate methyltransferase deficiency (GAMT deficiency), is an autosomal recessive[1] cerebral creatine deficiency that primarily affects the nervous system and muscles. It is the first described disorder of creatine metabolism, and results from deficient activity of guanidinoacetate methyltransferase, an enzyme involved in the synthesis of creatine.[2] Clinically, affected individuals often present with hypotonia, seizures and developmental delay. Diagnosis can be suspected on clinical findings, and confirmed by specific biochemical tests, brain magnetic resonance spectroscopy, or genetic testing. Biallelic pathogenic variants in GAMT are the underlying cause of the disorder. After GAMT deficiency is diagnosed, it can be treated by dietary adjustments, including supplementation with creatine. Treatment is highly effective if started early in life. If treatment is started late, it cannot reverse brain damage which has already taken place.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 Further reading
* 7 External links
## Signs and symptoms[edit]
Individuals with GAMT deficiency appear normal at birth. Shortly after birth, infants may start to show signs, as the consequences of decreased creatine levels in their body become more apparent. These clinical findings are relatively non-specific, and do not immediately suggest a disorder of creatine metabolism. Common clinical findings, as with other cerebral creatine deficiencies, include developmental delay (both intellectual and motor), seizures and hypotonia.[3][4] Speech delay, autism, and self-injurious behaviour have also been described.[5]
## Genetics[edit]
GAMT (EC 2.1.1.2) catalyzes the second step in the creatine biosynthetic pathway
Biallelic pathogenic variants in GAMT are associated with guanidinoacetate methyltransferase deficiency. This gene codes for the enzyme guanidinoacetate methyltransferase (GAMT), which participates in the two-step synthesis of the compound creatine from amino acids glycine, arginine and methionine. Specifically, GAMT controls the second step of the sequence, in which creatine is produced from another compound called guanidinoacetate.[6] The effects of GAMT deficiency are most severe in organs and tissues that require large amounts of energy, such as the brain and muscles.[citation needed]
This disorder is inherited in an autosomal recessive manner, which means the causative gene is located on an autosome, and two defective copies of the gene - one from each parent - are required to inherit the disorder. The parents both carry one pathogenic variant, however they are not affected by the disorder. As carriers, the residual activity of approximately 50% is enough to avoid clinical complications.[3] Unaffected siblings of an affected individual have a 2/3 chance of being carriers.[3]
## Diagnosis[edit]
GAMT deficiency can be suspected from clinical findings, although clinical findings are not suggestive of a specific diagnosis. Laboratory testing of plasma and urine will show decreased levels of creatine and increased levels of guanidinoacetate. Non-specific elevations of metabolites on urine testing, such as organic acid analysis, that are normalized to creatinine may be observed. For these tests, the excretion of urine metabolites is not elevated, but appears elevated due to unusually low creatinine values.[4] Specific diagnostic testing for GAMT deficiency relies on the measurement of guanidinoacetate and creatine in urine and plasma. Increased levels of guanidinoacetate and decreased levels of creatine can suggest a diagnosis.[4] Confirmatory testing can include enzyme assays to directly measure guanidinoacetate methyltransferase activity or molecular testing of GAMT. Brain magnetic resonance spectroscopy will show decreased levels of creatine, in affected individuals, however this finding is seen in all three cerebral creatine deficiencies, and needs to be followed up to identify the specific defect.[4]
Treatment is most effective for GAMT deficiency with early diagnosis, however the non-specific clinical findings mean there is often a delay in diagnosis. Due to the efficacy of treatment and the delay in diagnosis, GAMT deficiency has been a candidate for newborn screening programs.[7][8] Newborn screening assays measure the amount of guanidinoacetate in a dried blood spot using tandem mass spectrometry. Abnormal results from a newborn screening test still need to be confirmed by testing in plasma or urine.[7] GAMT deficiency was nominated to be included in the list of disorders recommended for screening in the United States in 2016. It was not recommended for inclusion, as studies completed at the time could not demonstrate that a case could be reliably identified in a newborn screening setting.[9] Utah started screening for GAMT deficiency in all newborns in 2015. New York started screening newborns in late 2018, and Michigan planned to start in 2019.[10]
## Treatment[edit]
Treatment of GAMT deficiency focuses on restoration of depleted brain creatine with creatine supplementation in pharmacologic doses, and removal of toxic intermediates via ornithine supplementation.[9] All patients are reported to benefit by this treatment, with improvements in muscular hypotonia, dyskinesia, social contact, alertness and behavior. Seizures appear to reduce more with dietary arginine restriction and ornithine supplementation. Despite treatment, none of the patients have been reported to return to completely normal developmental level, if significant damage had taken place before treatment. Prior to the addition of GAMT deficiency to newborn screening panels, younger siblings of affected individuals may have been tested at birth and treated early. This early treatment can result in outcomes that are very close to normal.[9]
## References[edit]
1. ^ Schulze, Andreas (2003). "Creatine deficiency syndromes". Molecular and Cellular Biochemistry. 244 (1/2): 143–150. doi:10.1023/A:1022443503883. ISSN 0300-8177. PMID 12701824. S2CID 25056424.
2. ^ Stöckler, S; Isbrandt, D; Hanefeld, F; Schmidt, B; Von Figura, K (1 May 1996). "Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man" (Free full text). American Journal of Human Genetics. 58 (5): 914–22. ISSN 0002-9297. PMC 1914613. PMID 8651275.
3. ^ a b c "612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2". Johns Hopkins University. Retrieved 2019-01-05.
4. ^ a b c d Schulze, Andreas (2009). "Creatine Deficiency Syndromes". In Sarafoglou, Kiriakie; Hoffmann, Georg F.; Roth, Karl S. (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153–161. ISBN 978-0-07-143915-2.
5. ^ Braissant, Olivier; Henry, Hugues; Béard, Elidie; Uldry, Joséphine (2011). "Creatine deficiency syndromes and the importance of creatine synthesis in the brain" (PDF). Amino Acids. 40 (5): 1315–1324. doi:10.1007/s00726-011-0852-z. ISSN 0939-4451. PMID 21390529. S2CID 13755292.
6. ^ Clark, Joseph F.; Cecil, Kim M. (2014). "Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes". Pediatric Research. 77 (3): 398–405. doi:10.1038/pr.2014.203. ISSN 0031-3998. PMID 25521922. S2CID 6720075.
7. ^ a b Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G (2016). "Expanded newborn screening by mass spectrometry: New tests, future perspectives" (PDF). Mass Spectrom Rev. 35 (1): 71–84. Bibcode:2016MSRv...35...71O. doi:10.1002/mas.21463. hdl:2158/1010572. PMID 25952022.
8. ^ "Creatine deficiency among disorders underdiagnosed, researchers say". ABC 7; WLS-TV. 2014-06-07. Retrieved 2019-02-18.
9. ^ a b c Chen, Daphne (2016-11-02). "Utah mom, doctors push to add rare disorder to national newborn screening panel". Deseret News, Utah. Retrieved 2019-02-18.
10. ^ "Newborn Screening Program". Association for Creatine Deficiencies. Retrieved 2019-05-05.
## Further reading[edit]
* National Library of Medicine. Genetics Home Reference - Guanidinoacetate methyltransferase deficiency
* GeneReview/NIH/UW entry on Cerebral Creatine Deficiency syndromes
## External links[edit]
Classification
D
* ICD-10: E72.8
* OMIM: 601240
* MeSH: C537622
* DiseasesDB: 5461
External resources
* GeneReviews: Creatine Deficiency Syndromes
* Orphanet: 382
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Guanidinoacetate methyltransferase deficiency
|
c0574080
| 25,289 |
wikipedia
|
https://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency
| 2021-01-18T18:53:50 |
{"gard": ["2578"], "mesh": ["C537622"], "umls": ["C0574080"], "icd-10": ["E72.8"], "orphanet": ["382"], "wikidata": ["Q5613758"]}
|
See also: Hypertensive emergency and Hypertensive urgency
Severely elevated blood pressure (equal to or greater than a systolic 180 or diastolic of 110—sometimes termed malignant or accelerated hypertension) is referred to as a hypertensive crisis, as blood pressure at this level confers a high risk of complications. People with blood pressures in this range may have no symptoms, but are more likely to report headaches (22% of cases)[1] and dizziness than the general population.[2] Other symptoms accompanying a hypertensive crisis may include visual deterioration due to retinopathy, breathlessness due to heart failure, or a general feeling of malaise due to kidney failure.[3] Most people with a hypertensive crisis are known to have elevated blood pressure, but additional triggers may have led to a sudden rise.[4]
A "hypertensive emergency" is diagnosed when there is evidence of direct damage to one or more organs as a result of severely elevated blood pressure greater than 180 systolic or 120 diastolic.[5] This may include hypertensive encephalopathy, caused by brain swelling and dysfunction, and characterized by headaches and an altered level of consciousness (confusion or drowsiness). Retinal papilledema and/or fundal bleeds and exudates are another sign of target organ damage. Chest pain may indicate heart muscle damage (which may progress to myocardial infarction) or sometimes aortic dissection, the tearing of the inner wall of the aorta. Breathlessness, cough, and the coughing up of blood-stained sputum are characteristic signs of pulmonary edema, the swelling of lung tissue due to left ventricular failure an inability of the left ventricle of the heart to adequately pump blood from the lungs into the arterial system.[4] Rapid deterioration of kidney function (acute kidney injury) and microangiopathic hemolytic anemia (destruction of blood cells) may also occur.[4] In these situations, rapid reduction of the blood pressure is mandated to stop ongoing organ damage.[4] In contrast there is no evidence that blood pressure needs to be lowered rapidly in hypertensive urgencies where there is no evidence of target organ damage and over aggressive reduction of blood pressure is not without risks.[3] Use of oral medications to lower the BP gradually over 24 to 48h is advocated in hypertensive urgencies.[4]
There are several etiologies of a hypertensive crisis, including a tumor. A rare, neuroendocrine tumor called a pheochromocytoma can cause a hypertensive crisis due to elevated levels of catecholamines.
## References[edit]
1. ^ Papadopoulos DP, Mourouzis I, Thomopoulos C, Makris T, Papademetriou V (December 2010). "Hypertension crisis". Blood Press. 19 (6): 328–36. doi:10.3109/08037051.2010.488052. PMID 20504242. S2CID 207471870.
2. ^ Fisher ND, Williams GH (2005). "Hypertensive vascular disease". In Kasper DL, Braunwald E, Fauci AS, et al. (eds.). Harrison's Principles of Internal Medicine (16th ed.). New York, NY: McGraw-Hill. pp. 1463–81. ISBN 978-0-07-139140-5.
3. ^ a b O'Brien, Eoin; Beevers, D. G.; Lip, Gregory Y. H. (2007). ABC of hypertension. London: BMJ Books. ISBN 978-1-4051-3061-5.
4. ^ a b c d e Marik PE, Varon J (June 2007). "Hypertensive crises: challenges and management". Chest. 131 (6): 1949–62. doi:10.1378/chest.06-2490. PMID 17565029.
5. ^ Chobanian, AV; Bakris, GL; Black, HR; Cushman, WC; Green, LA; Izzo JL, Jr; Jones, DW; Materson, BJ; Oparil, S; Wright JT, Jr; Roccella, EJ; National High Blood Pressure Education Program Coordinating Committee (Dec 2003). "Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure". Hypertension. 42 (6): 1206–52. doi:10.1161/01.hyp.0000107251.49515.c2. PMID 14656957.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypertensive crisis
|
c0020546
| 25,290 |
wikipedia
|
https://en.wikipedia.org/wiki/Hypertensive_crisis
| 2021-01-18T18:46:53 |
{"wikidata": ["Q25303605"]}
|
Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
## Epidemiology
It has been described in four generations of one family and in two additional sporadic cases.
## Clinical description
The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.
## Etiology
The etiology remains unknown.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Rombo syndrome
|
c1867147
| 25,291 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3110
| 2021-01-23T17:07:46 |
{"gard": ["4738"], "mesh": ["C535870"], "omim": ["180730"], "umls": ["C1867147"], "icd-10": ["L98.8"]}
|
Failure of eruption of teeth happens when a single or multiple teeth fail to erupt in the mouth. This can happen due to many reasons which may include obstruction from primary teeth, bone surrounding the unerupted tooth or other mechanical factors. The two types of failure of eruption are primary failure of eruption and mechanical failure of eruption. Primary failure of eruption has been known to be associated with Parathyroid hormone 1 receptor mutation.[1]
## Contents
* 1 Primary failure of eruption
* 1.1 Management
* 2 Mechanical failure of eruption
* 3 Eruption failure related to syndrome
* 4 References
## Primary failure of eruption[edit]
The term primary failure of eruption was named by William Proffit and Katherine Vig in 1981.[2][3] This type of failure of eruption has a genetic or familial background precursor as a cause. The prevalence is of PFE is about 0.06% in population. In this type of failure, teeth that are non-ankylosed fail to erupt in the mouth. These teeth do not have a precursor tooth that is blocking their path. These teeth tend to erupt partially but then fail to erupt as the time goes on. Profitt stated that only the posterior teeth are the ones to be affected and all the teeth which are distal to the affected tooth are also affected. Both permanent and primary teeth may equally be affected. This often results in posterior open bite in patients mouth who have primary failure of eruption. This phenomenon can occur in any quadrant of the mouth.
There are two types of primary failure of eruption. Type I involves failure of eruption of teeth distal to the most mesial affected tooth to be all same. Type II involves a greater eruption pattern, not complete, among the teeth distal to the most mesial affected tooth. It is difficult to diagnose between these two types of failure of eruption because 2nd molar does not erupt until a patient is 15 years of age. Plenty of times, patient's receive orthodontic care much before they turn 15 years old. Therefore, to properly diagnose between two types, a patient needs to be over 15 and a definitive proof of uneruption of 2nd molar is required.
### Management[edit]
Management of teeth with PFE can include extractions of affected teeth, followed by orthodontic space closure or placement of a prosthetic implant with a bone graft. This option can only be applied to a single tooth that is affected. If multiple teeth are affected then, a segmental osteotomy may be performed to bring the entire segment into occlusion.[4] However, minimal success has been shown following this procedure.[5] These teeth usually are "non-responsive" to the orthodontic force and studies have shown that ankylosis of these teeth can occur if force applied.
## Mechanical failure of eruption[edit]
This type of failure of eruption takes place when the affected tooth is ankylosed to the bone around it. This is different from primary failure of eruption where the affected tooth/teeth were not ankylosed. In mechanical failure of eruption, affected tooth has partial or complete loss of PDL in a panoramic radiograph and teeth distal to affected tooth do not have this condition.[6][7] On a percussion test, a tooth with mechanical failure of eruption will have a dull metallic sound.
## Eruption failure related to syndrome[edit]
There have been many syndromes which have been identified to be related to failure of eruption of teeth. These syndromes are Cleidocranial dyspalsia, Osteoporosis, Rutherford syndrome, GAPO syndrome and Osteoglophonic dysplasia.
## References[edit]
1. ^ Decker, Eva; Stellzig-Eisenhauer, Angelika; Fiebig, Britta S.; Rau, Christiane; Kress, Wolfram; Saar, Kathrin; Rüschendorf, Franz; Hubner, Norbert; Grimm, Tiemo (2008-12-01). "PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption". American Journal of Human Genetics. 83 (6): 781–786. doi:10.1016/j.ajhg.2008.11.006. ISSN 1537-6605. PMC 2668057. PMID 19061984.
2. ^ Frazier-Bowers, Sylvia A.; Koehler, Karen E.; Ackerman, James L.; Proffit, William R. (2007-05-01). "Primary failure of eruption: further characterization of a rare eruption disorder". American Journal of Orthodontics and Dentofacial Orthopedics. 131 (5): 578.e1–11. doi:10.1016/j.ajodo.2006.09.038. ISSN 1097-6752. PMID 17482073.
3. ^ Proffit, William R.; Vig, Katherine W. L. (1981-08-01). "Primary failure of eruption: A possible cause of posterior open-bite". American Journal of Orthodontics. 80 (2): 173–190. doi:10.1016/0002-9416(81)90217-7.
4. ^ Ahmad, Sofia; Bister, Dirk; Cobourne, Martyn T. (2006-12-01). "The clinical features and aetiological basis of primary eruption failure". The European Journal of Orthodontics. 28 (6): 535–540. doi:10.1093/ejo/cjl033. ISSN 0141-5387. PMID 17041084.
5. ^ Susami, Takafumi; Matsuzaki, Masako; Ogihara, Yuji; Sakiyama, Miyuki; Takato, Tsuyoshi; Sugawara, Yasushi; Matsumoto, Shigeyuki (2006-09-01). "Segmental alveolar distraction for the correction of unilateral open-bite caused by multiple ankylosed teeth: a case report". Journal of Orthodontics. 33 (3): 153–159. doi:10.1179/146531205225021572. ISSN 1465-3125. PMID 16926308.
6. ^ Rasmussen, P.; Kotsaki, A. (2017-02-01). "Inherited primary failure of eruption in the primary dentition: report of five cases". ASDC Journal of Dentistry for Children. 64 (1): 43–47. ISSN 1945-1954. PMID 9096818.
7. ^ "Primary failure of eruption of primary molars: A review and case report". www.quintpub.com. Retrieved 2016-11-29.
* v
* t
* e
Orthodontics
Diagnosis
* Bolton analysis
* Cephalometric analysis
* Cephalometry
* Dentition analysis
* Failure of eruption of teeth
* Little's Irregularity Index
* Malocclusion
* Scissor bite
* Standard anatomical position
* Tooth ankylosis
* Tongue thrust
Conditions
* Overbite
* Open bite
* Crossbite
* Prognathism
* Retrognathism
* Maxillary hypoplasia
* Condylar hyperplasia
* Overeruption
* Mouth breathing
Appliances
* ACCO appliance
* Archwire
* Activator appliance
* Braces
* Damon system
* Elastics
* Frankel appliance
* Invisalign
* Lingual arch
* Lip bumper
* List of orthodontic functional appliances
* List of palatal expanders
* Lingual braces
* Headgear
* Orthodontic technology
* Orthodontic spacer
* Palatal lift prosthesis
* Palatal expander
* Quad helix
* Retainer
* SureSmile
* Self-ligating braces
* Splint activator
* Twin Block Appliance
Procedures
* Anchorage (orthodontics)
* Cantilever mechanics
* Fiberotomy
* Interproximal reduction
* Intrusion (orthodontics)
* Molar distalization
* SARPE
* Serial extraction
Materials
* Beta-titanium
* Nickel titanium
* Stainless steel
* TiMolium
* Elgiloy
* Ceramic
* Composite
Notable contributors
* Edward Angle
* Spencer Atkinson
* Clifford Ballard
* Raymond Begg
* Hans Peter Bimler
* Samir Bishara
* Arne Björk
* Charles B. Bolton
* Holly Broadbent Sr.
* Allan G. Brodie
* Charles J. Burstone
* Peter Buschang
* Calvin Case
* Harold Chapman (Orthodontist)
* David Di Biase
* Jean Delaire
* Terry Dischinger
* William B. Downs
* John Nutting Farrar
* Rolf Frankel
* Sheldon Friel
* Thomas M. Graber
* Charles A. Hawley
* Reed Holdaway
* John Hooper (Orthodontist)
* Joseph Jarabak
* Harold Kesling
* Albert Ketcham
* Juri Kurol
* Craven Kurz
* Benno Lischer
* James A. McNamara
* Birte Melsen
* Robert Moyers
* Hayes Nance
* Ravindra Nanda
* George Northcroft
* Dean Harold Noyes
* Frederick Bogue Noyes
* Albin Oppenheim
* Herbert A. Pullen
* Earl W. Renfroe
* Robert M. Ricketts
* Alfred Paul Rogers
* Ronald Roth
* Everett Shapiro
* Frederick Lester Stanton
* Earl Emanuel Shepard
* Cecil C. Steiner
* David L. Turpin
* Charles H. Tweed
* Katherine Vig
* Edmund H. Wuerpel
* Won-Sik Yang
Organizations
* American Association of Orthodontists
* American Board of Orthodontics
* British Orthodontic Society
* Canadian Association of Orthodontists
* Indian Orthodontic Society
* Italian Academy of Orthodontic Technology
* Society for Orthodontic Dental Technology (Germany)
Journals
* American Journal of Orthodontics and Dentofacial Orthopedics
* The Angle Orthodontist
* Journal of Orthodontics
Institution
* Angle School of Orthodontia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Failure of eruption of teeth
|
c1852222
| 25,292 |
wikipedia
|
https://en.wikipedia.org/wiki/Failure_of_eruption_of_teeth
| 2021-01-18T19:06:22 |
{"mesh": ["C565114"], "umls": ["C1852222"], "icd-10": ["K00.8"], "orphanet": ["412206"], "wikidata": ["Q28454436"]}
|
Oligospermia
Other namesoligozoospermia, low sperm count
SpecialtyUrology
Terms oligospermia, oligozoospermia, and low sperm count refer to semen with a low concentration of sperm[1] and is a common finding in male infertility. Often semen with a decreased sperm concentration may also show significant abnormalities in sperm morphology and motility (technically oligoasthenoteratozoospermia). There has been interest in replacing the descriptive terms used in semen analysis with more quantitative information.[2]
## Contents
* 1 Diagnosis
* 2 Causes
* 2.1 Pre-testicular causes
* 2.2 Testicular factors
* 2.3 Post-testicular causes
* 2.4 Idiopathic oligospermia (oligoasthenoteratozoospermia)
* 2.5 DNA damage
* 3 Treatment
* 4 Fertility
* 5 See also
* 6 References
* 7 External links
## Diagnosis[edit]
The diagnosis of oligozoospermia is based on one low count in a semen analysis performed on two occasions. For many decades sperm concentrations of less than 20 million sperm/ml were considered low or oligospermic, recently, however, the WHO reassessed sperm criteria and established a lower reference point, less than 15 million sperm/ml, consistent with the 5th percentile for fertile men.[3] Sperm concentrations fluctuate and oligospermia may be temporary or permanent.
Sources usually classify oligospermia in 3 classes:[4]
* Mild: concentrations 10 million – 15 million sperm/mL
* Moderate: concentrations 5 million – 10 million sperm/mL
* Severe: concentrations less than 5 million sperm/mL
The diagnosis of oligozoospermia requires a work-up via semen analysis (listed in Male infertility).
## Causes[edit]
Further information: Semen quality
There are many causes for oligospermia including:[5]
### Pre-testicular causes[edit]
Pre-testicular factors refer to conditions that impede adequate support of the testes and include situations of poor hormonal support and poor general health including:
* Hypogonadism due to various causes
* Drugs, alcohol, smoking
* Strenuous riding (bicycle riding,[6] horseback riding)
* Medications, including androgens.
### Testicular factors[edit]
Testicular factors refer to conditions where the testes produces semen of poor quality despite adequate hormonal support and include:
* Age
* Genetic defects on the Y chromosome
* Y chromosome microdeletions
* Abnormal set of chromosomes
* Klinefelter syndrome
* Neoplasm, e.g. seminoma
* Cryptorchidism
* Varicocele (14% in one study)[7][8]
* Trauma
* Hydrocele
* Mumps[9]
* Malaria
* Defects in USP26 enzyme in some cases[10]
Mast cells releasing inflammatory mediators appear to directly suppress sperm motility in a potentially reversible manner, and may be a common pathophysiological mechanism for several of the above-mentioned factors.[11]
### Post-testicular causes[edit]
Post-testicular factors decrease male fertility due to conditions that affect the male genital system after testicular sperm production and include defects of the genital tract as well as problems in ejaculation:
* Vas deferens obstruction
* Lack of Vas deferens, often related to genetic markers for cystic fibrosis
* Infection, e.g. prostatitis
* Ejaculatory duct obstruction
### Idiopathic oligospermia (oligoasthenoteratozoospermia)[edit]
In about 30% of infertile men no causative factor is found for their decrease in sperm concentration or quality by common clinical, instrumental, or laboratory means, and the condition is termed "idiopathic" (unexplained).[12] A number of factors may be involved in the genesis of this condition, including age, infectious agents ( such as Chlamydia trachomatis), Y chromosome microdeletions, mitochondrial changes, environmental pollutants, and "subtle" hormonal changes.[12]
A review in 2013 came to the result that oligospermia and azoospermia are significantly associated with being overweight (odds ratio 1.1), obese (odds ratio 1.3) and morbidly obese (odds ratio 2.0), but the cause of this is unknown.[13] It found no significant relation between oligospermia and being underweight.[13]
### DNA damage[edit]
The human breast cancer susceptibility gene 2 (BRCA2) is employed in homologous recombinational repair of DNA damages during meiosis. A common single-nucleotide polymorphism of BRCA2 is associated with severe oligospermia.[14]
Men with mild oligospermia (semen concentration of 15 million to 20 million sperm/ml) were studied for an association of sperm DNA damage with life style factors.[15] A significant association was found between sperm DNA damage and factors such as age, obesity and occupational stress.
## Treatment[edit]
Treatment takes place within the context of infertility management and needs also to consider the fecundity of the female partner. Thus the choices can be complex.
In a number of situations direct medical or surgical intervention can improve the sperm concentration, examples are use of FSH in men with pituitary hypogonadism, antibiotics in case of infections, or operative corrections of a hydrocele, varicocele, or vas deferens obstruction.
In most cases of oligospermia including its idiopathic form there is no direct medical or surgical intervention agreed to be effective. Empirically many medical approaches have been tried including clomiphene citrate, tamoxifen, HMG, FSH, HCG, testosterone, Vitamin E, Vitamin C, anti-oxidants, carnitine, acetyl-L-carnitine, zinc, high-protein diets. In a number of pilot studies some positive results have been obtained. Clomiphene citrate has been used with modest success.[16] The combination of tamoxifen plus testosterone was reported to improve the sperm situation.[17]
The use of carnitine showed some promise in a controlled trial in selected cases of male infertility improving sperm quality and further studies are needed.[18]
In many situations, intrauterine inseminations are performed with success.[19] In more severe cases IVF, or IVF - ICSI is done[16] and is often the best option, specifically if time is a factor or fertility problems coexist on the female side. The Low dose Estrogen Testosterone Combination Therapy may improve sperm count and motility in some men[20] including severe oligospermia.[21]
## Fertility[edit]
Achieving a pregnancy naturally may be a challenge if the male suffers from a low sperm count. However, chances are good if the female partner is fertile; many couples with this problem have been successful. Prognosis is more limited if there is a combination of factors that include sperm dysfunction and reduced ovarian reserve.
## See also[edit]
* conception device
* male infertility
* semen quality
## References[edit]
1. ^ thefreedictionary.com > oligospermia Citing: Dorland's Medical Dictionary for Health Consumers, 2007 by Saunders; The American Heritage Medical Dictionary 2007, 2004 by Houghton Mifflin Company; Mosby's Medical Dictionary, 8th edition 2009; McGraw-Hill Concise Dictionary of Modern Medicine, 2002 by The McGraw-Hill Companies
2. ^ Grimes DA & Lopez LM 2007 Fertility and Sterility 88(6) 1491-94.
3. ^ Cooper TG, Noonan E, von Eckardstein S, et al. (2010). "World Health Organization reference values for human semen characteristics". Hum. Reprod. Update. 16 (3): 231–45. doi:10.1093/humupd/dmp048. PMID 19934213.
4. ^ Padubidri; Daftary (2011). Shaw's Textbook of Gynaecology, 15e. p. 204. ISBN 9788131225486
5. ^ Rowe PJ, Comhaire FH, Hargreave TB, Mahmoud AMA. WHO Manual for the Standardized Investigation, Diagnosis and Management of the Infertile Male. Cambridge University Press, 2000. ISBN 0-521-77474-8.
6. ^ Leibovitch I, Mor Y (2005). "The vicious cycling: bicycling related urogenital disorders". Eur. Urol. 47 (3): 277–86, discussion 286–7. doi:10.1016/j.eururo.2004.10.024. PMID 15716187.
7. ^ "Infertility in men". Retrieved 2007-11-21.
8. ^ Costabile RA, Spevak M (2001). "Characterization of patients presenting with male factor infertility in an equal access, no cost medical system". Urology. 58 (6): 1021–4. doi:10.1016/S0090-4295(01)01400-5. PMID 11744480.
9. ^ Masarani M, Wazait H, Dinneen M (2006). "Mumps orchitis". Journal of the Royal Society of Medicine. 99 (11): 573–5. doi:10.1258/jrsm.99.11.573. PMC 1633545. PMID 17082302.
10. ^ Zhang J, Qiu SD, Li SB, et al. (2007). "Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility". Asian J. Androl. 9 (6): 809–14. doi:10.1111/j.1745-7262.2007.00305.x. PMID 17968467.
11. ^ Menzies, F. M.; Shepherd, M. C.; Nibbs, R. J.; Nelson, S. M. (2010). "The role of mast cells and their mediators in reproduction, pregnancy and labour". Human Reproduction Update. 17 (3): 383–396. doi:10.1093/humupd/dmq053. PMID 20959350.
12. ^ a b Cavallini G (2006). "Male idiopathic oligoasthenoteratozoospermia". Asian J Androl. 8 (2): 143–57. doi:10.1111/j.1745-7262.2006.00123.x. PMID 16491265.
13. ^ a b [1] Sermondade, N.; Faure, C.; Fezeu, L.; et al. (2012). "BMI in relation to sperm count: An updated systematic review and collaborative meta-analysis". Human Reproduction Update. 19 (3): 221–231. doi:10.1093/humupd/dms050. PMC 3621293. PMID 23242914.
14. ^ Zhoucun A, Zhang S, Yang Y, Ma Y, Zhang W, Lin L (2006). "The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia". Eur. J. Obstet. Gynecol. Reprod. Biol. 124 (1): 61–4. doi:10.1016/j.ejogrb.2005.09.001. PMID 16257105.
15. ^ Radwan M, Jurewicz J, Merecz-Kot D, Sobala W, Radwan P, Bochenek M, Hanke W (2016). "Sperm DNA damage-the effect of stress and everyday life factors". Int. J. Impot. Res. 28 (4): 148–54. doi:10.1038/ijir.2016.15. PMID 27076112.
16. ^ a b Check JH (2007). "Treatment of male infertility". Clin Exp Obstet Gynecol. 34 (4): 201–6. PMID 18225678.
17. ^ Adamopoulos DA, Nicopoulou S, Kapolla N, Karamertzanis M, Andreou E (1997). "The combination of testosterone undecanoate with tamoxifen citrate enhances the effects of each agent given independently on seminal parameters in men with idiopathic oligozoospermia". Fertil. Steril. 67 (4): 756–62. doi:10.1016/s0015-0282(97)81379-9. PMID 9093207.
18. ^ Lenzi A, Lombardo F, Sgro P, Salacone P, Caponecchia L, Dondero F, Gandini L (1991). "Use of carnitine therapy in selected cases of male factor infertility: a double-blind crossover trial". Fertility and Sterility. 25 (5): 1253–326. PMID 12569937.
19. ^ Francavilla F, Sciarretta F, Sorgentone S, Necozione S, Santucci R, Barbonetti A, Francavilla S (2009). "Intrauterine insemination with or without mild ovarian stimulation in couples with male subfertility due to oligo/astheno- and/or teratozoospermia or antisperm antibodies: a prospective cross-over trial". Fertil. Steril. 92 (3): 1009–11. doi:10.1016/j.fertnstert.2009.01.112. PMID 19261275.
20. ^ Sah, P (October 1998). "Role of low-dose estrogen-testosterone combination therapy in men with oligospermia". Fertility and Sterility. 70 (4): 780–1. doi:10.1016/S0015-0282(98)00273-8. PMID 9797116.
21. ^ Sah, P (December 2002). "Oligospermia due to partial maturation arrest responds to low dose estrogen-testosterone combination therapy resulting in live-birth: a case report". Asian Journal of Andrology. 4 (4): 307–8. PMID 12508135.
## External links[edit]
Classification
D
* ICD-10: N46
* ICD-9-CM: 606.1
* MeSH: D009845
* Underlying causes of Oligospermia
* oligospermia.info
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
* Seminal vesiculitis
External
Penis
* Balanoposthitis / Balanitis
* Balanitis plasmacellularis
* Pseudoepitheliomatous keratotic and micaceous balanitis
* Phimosis
* Paraphimosis
* Priapism
* Sexual dysfunction
* Erectile dysfunction
* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Oligospermia
|
c0028960
| 25,293 |
wikipedia
|
https://en.wikipedia.org/wiki/Oligospermia
| 2021-01-18T19:08:57 |
{"mesh": ["D009845"], "umls": ["C0028960"], "wikidata": ["Q2638851"]}
|
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Myalgia-eosinophilia syndrome associated with tryptophan
|
c1275050
| 25,294 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2582
| 2021-01-23T17:00:38 |
{"mesh": ["D016603"], "umls": ["C1275050"], "icd-10": ["M35.8"]}
|
Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Progressive myoclonic epilepsy
|
c0751777
| 25,295 |
gard
|
https://rarediseases.info.nih.gov/diseases/7140/progressive-myoclonic-epilepsy
| 2021-01-18T17:58:08 |
{"mesh": ["D020191"], "umls": ["C0751777"], "orphanet": ["98261"], "synonyms": ["Familial progressive myoclonic epilepsy"]}
|
Communication disorder
SpecialtySpeech-language pathology
A communication disorder is any disorder that affects an individual's ability to comprehend, detect, or apply language and speech to engage in discourse effectively with others.[1] The delays and disorders can range from simple sound substitution to the inability to understand or use one's native language.[2]
## Contents
* 1 Diagnosis
* 1.1 DSM-IV
* 1.2 DSM-5
* 2 Examples
* 2.1 Sensory impairments
* 2.2 Aphasia
* 2.3 Learning disability
* 2.4 Speech disorders
* 3 See also
* 4 References
* 5 Further reading
* 6 External links
## Diagnosis[edit]
Disorders and tendencies included and excluded under the category of communication disorders may vary by source. For example, the definitions offered by the American Speech–Language–Hearing Association differ from those of the Diagnostic Statistical Manual 4th edition (DSM-IV).
Gleanson (2001) defines a communication disorder as a speech and language disorder which refers to problems in communication and in related areas such as oral motor function. The delays and disorders can range from simple sound substitution to the inability to understand or use one's native language.[2] In general, communication disorders commonly refer to problems in speech (comprehension and/or expression) that significantly interfere with an individual’s achievement and/or quality of life. Knowing the operational definition of the agency performing an assessment or giving a diagnosis may help.
Persons who speak more than one language or are considered to have an accent in their location of residence do not have a speech disorder if they are speaking in a manner consistent with their home environment or that is a blending of their home and foreign environment.[3]
### DSM-IV[edit]
According to the DSM-IV-TR, communication disorders are usually first diagnosed in childhood or adolescence, though they are not limited as childhood disorders and may persist into adulthood.[4][full citation needed] They may also occur with other disorders.
Diagnosis involves testing and evaluation during which it is determined if the scores/performance are "substantially below" developmental expectations and if they "significantly" interfere with academic achievement, social interactions, and daily living. This assessment may also determine if the characteristic is deviant or delayed. Therefore, it may be possible for an individual to have communication challenges but not meet the criteria of being "substantially below" criteria of the DSM IV-TR. The DSM diagnoses do not comprise a complete list of all communication disorders, for example, auditory processing disorder is not classified under the DSM or ICD-10.[5] The following diagnoses are included as communication disorders:
* Expressive language disorder – characterized by difficulty expressing oneself beyond simple sentences and a limited vocabulary. Individuals can better understand than use language; they may have a lot to say, but have more difficulty organizing and retrieving the words than expected for their developmental stage.[6]
* Mixed receptive-expressive language disorder – problems comprehending the commands of others.
* Stuttering – a speech disorder characterized by a break in fluency, where sounds, syllables, or words may be repeated or prolonged.[7]
* Phonological disorder – a speech sound disorder characterized by problems in making patterns of sound errors (e.g., "dat" for "that").
* Communication disorder NOS (not otherwise specified) – the DSM-IV diagnosis in which disorders that do not meet the specific criteria for the disorder listed above may be classified.
### DSM-5[edit]
The DSM-5 diagnoses for communication disorders completely rework the ones stated above. The diagnoses are made more general in order to capture the various aspects of communications disorders in a way that emphasizes their childhood onset and differentiate these communications disorders from those associated with other disorders (e.g. autism spectrum disorders).[8]
* Language disorder – the important characteristics of a language disorder are difficulties in learning and using language, which is caused by problems with vocabulary, with grammar, and with putting sentences together in a proper manner. Problems can both be receptive (understanding language) and expressive (producing language).[9]
* Speech sound disorder – previously called phonological disorder, for those with problems with pronunciation and articulation of their native language.[9][10]
* Childhood-Onset Fluency Disorder (Stuttering) - standard fluency and rhythm of speech is interrupted, often causing the repetition of whole words and syllables.[11] May also include the prolongation of words and syllables; pauses within a word; and/or the avoidance of pronouncing difficult words and replacing them with easier words that the individual is better able to pronounce.[12] This disorder causes many communication problems for the individual and may interfere with social communication and performance in work and/or school settings where communication is essential.[12]
* Social (pragmatic) communication disorder – this diagnosis described difficulties in the social uses of verbal and nonverbal communication in naturalistic contexts, which affects the development of social relationships and discourse comprehension. The difference between this diagnosis and autism spectrum disorder is that in the latter there is also a restricted or repetitive pattern of behavior.[9]
* Unspecified communication disorder – for those who have symptoms of a communication disorder but who do not meet all criteria, and whose symptoms cause distress or impairment.[9]
## Examples[edit]
Examples of disorders that may include or create challenges in language and communication and/or may co-occur with the above disorders:
* autism spectrum disorders \- autistic disorder, pervasive developmental disorder not otherwise specified (PDDNOS), and Asperger disorder – developmental disorders that affect the brain's normal development of social and communication skills.[13]
* expressive language disorder – affects speaking and understanding where there is no delay in non-verbal intelligence.
* mixed receptive-expressive language disorder – affects speaking, understanding, reading and writing where there is no delay in non-verbal intelligence.
* specific language impairment – a language disorder that delays the mastery of language skills in children who have no hearing loss or other developmental delays. SLI is also called developmental language disorder, language delay, or developmental dysphasia.[14]
### Sensory impairments[edit]
* Blindness – A link between communication skills and visual impairment with children who are blind is currently being investigated.[15]
* Deafness/frequent ear infections – Trouble with hearing during language acquisition may lead to spoken language problems. Children who suffer from frequent ear infections may temporarily develop problems pronouncing words correctly. Some of the above communication disorders can occur with people who use sign language. The inability to hear is not in itself a communication disorder.
### Aphasia[edit]
Aphasia is loss of the ability to produce or comprehend language. There are acute aphasias which result from stroke or brain injury, and primary progressive aphasias caused by progressive illnesses such as dementia.
* Acute aphasias
* Expressive aphasia also known as Broca's aphasia, expressive aphasia is a non-fluent aphasia that is characterized by damage to the frontal lobe region of the brain. A person with expressive aphasia usually speaks in short sentences that make sense but take great effort to produce. Also, a person with expressive aphasia understands another person's speech but has trouble responding quickly.[16]
* Receptive aphasia also known as Wernicke's aphasia, receptive aphasia is a fluent aphasia that is categorized by damage to the temporal lobe region of the brain. A person with receptive aphasia usually speaks in long sentences that have no meaning or content. People with this type of aphasia often have trouble understanding other's speech and generally do not realize that they are not making any sense.[16]
* Conduction aphasia[16]
* Anomic aphasia[16]
* Global aphasia[16]
* Primary progressive aphasias
* Progressive nonfluent aphasia[17]
* Semantic dementia[17]
* Logopenic progressive aphasia[17]
### Learning disability[edit]
* Dyscalculia – a defect of the systems used in communicating numbers
* Dyslexia – a defect of the systems used in reading
* Dysgraphia – a defect in the systems used in writing
### Speech disorders[edit]
* cluttering \- a syndrome characterized by a speech delivery rate which is either abnormally fast, irregular, or both.[18]
* dysarthria \- a condition that occurs when problems with the muscles that helps a person to talk make it difficult to pronounce words.[19]
* esophageal voice \- involves the patient injecting or swallowing air into the esophagus. Usually learnt and used by patients who cannot use their larynges to speak. Once the patient has forced the air into their esophagus, the air vibrates a muscle and creates esophageal voice. Esophageal voice tends to be difficult to learn and patients are often only able to talk in short phrases with a quiet voice.
* lisp \- a speech impediment that is also known as sigmatism.
* speech sound disorder \- Speech-sound disorders (SSD) involve impairments in speech-sound production and range from mild articulation issues involving a limited number of speech sounds to more severe phonologic disorders involving multiple errors in speech-sound production and reduced intelligibility.[20]
* stuttering \- a speech disorder in which sounds, syllables, or words are repeated or last longer than normal. These problems cause a break in the flow of speech (called disfluency).
## See also[edit]
* Compulsive talking
* Developmental verbal dyspraxia
* FOXP2
* Glossary of medical terms related to communications disorders
* Speech acquisition
* Speech-Language Pathology
* Voice disorders
* Least dangerous assumption
## References[edit]
1. ^ Collins, John William. "The greenwood dictionary of education". Greenwood, 2011. page 86. ISBN 978-0-313-37930-7
2. ^ a b Gleason, Jean Berko (2001). The development of language. Boston: Allyn and Bacon. ISBN 978-0-205-31636-6. OCLC 43694441.
3. ^ "Speech sound disorders". Information for the Public. American Speech-Language-Hearing Association (ASHA). Archived from the original on 2019-05-17. Retrieved 2012-02-22.
4. ^ DSM IV-TR, Rapoport DSM-IV Training Guide for Diagnosis of Childhood Disorders
5. ^ Banai, K; Yifat, R (2010). JH Stone; M Blouin (eds.). "Communication Disorders: Auditory Processing Disorders". International Encyclopedia of Rehabilitation. Center for International Rehabilitation Research Information and Exchange (CIRRIE).
6. ^ Morales, Sarah. "Expressive Language Disorder - ICD 315.31". Children's Speech Care Center. Retrieved 8 December 2013.
7. ^ "Stuttering". Children and stuttering; Speech disfluency; Stammering. U.S. National Library of Medicine - PubMed Health. 2012. Retrieved 8 December 2013.
8. ^ Fung, Lawrence K.; Hardan, Antonio Y. (2014). "Autism in DSM-5 under the microscope: Implications to patients, families, clinicians, and researchers". Asian Journal of Psychiatry. 11: 93–97. doi:10.1016/j.ajp.2014.08.010. PMID 25219947.
9. ^ a b c d American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. pp. 41–49. ISBN 978-0-89042-555-8. OCLC 845233998.
10. ^ Lee ASY, Gibbon FE. Non-speech oral motor treatment for children with developmental speech sound disorders. Cochrane Database of Systematic Reviews 2015, Issue 3. Art. No.: CD009383. DOI: 10.1002/14651858.CD009383.pub2.
11. ^ Nolen-Hoeksema, Susan (2014). Abnormal Psychology (Sixth ed.). 2 Penn Plaza, New York, NY 10121: McGraw-Hill Education. p. 301. ISBN 978-0-07-803538-8.CS1 maint: location (link)
12. ^ a b American Psychiatric Association. "Diagnostic and Statistical Manual of Mental Disorders Fifth Edition". Page 46.
13. ^ Kennison, Shelia M. (2013-07-30). Introduction to language development. Los Angeles: SAGE Publications. ISBN 978-1-4129-9606-8. OCLC 830837502.
14. ^ "Specific Language Impairment". National Institute on Deafness and Other Communication Disorders (NIDCD). 2015-08-18.
15. ^ James, D. M.; Stojanovik, V. (2007). "Communication skills in blind children: a preliminary investigation". Child: Care, Health and Development. 33 (1): 4–10. doi:10.1111/j.1365-2214.2006.00621.x. PMID 17181747.
16. ^ a b c d e Sinanović O, Mrkonjić Z, Zukić S, Vidović M, Imamović K (March 2011). "Post-stroke language disorders". Acta Clin Croat. 50 (1): 79–94. PMID 22034787.
17. ^ a b c Harciarek M, Kertesz A (September 2011). "Primary progressive aphasias and their contribution to the contemporary knowledge about the brain-language relationship". Neuropsychol Rev. 21 (3): 271–87. doi:10.1007/s11065-011-9175-9. PMC 3158975. PMID 21809067.
18. ^ Louis, Kenneth O.; Raphael, Lawrence J.; Myers, Florence L.; Bakker, Klaas (2013). "Cluttering Updated". ASHA Leader. American Speech-Language-Hearing Association (ASHA). Archived from the original on 2012-07-18. Retrieved 8 December 2013.
19. ^ "Dysarthria". Impairment of speech; Slurred speech; Speech disorders - dysarthria. U.S. National Library of Medicine - PubMed Health. 2012. Retrieved 8 December 2013.
20. ^ Sices L, Taylor HG, Freebairn L, Hansen A, Lewis B (December 2007). "Relationship between speech-sound disorders and early literacy skills in preschool-age children: impact of comorbid language impairment". J Dev Behav Pediatr. 28 (6): 438–47. doi:10.1097/DBP.0b013e31811ff8ca. PMC 2755217. PMID 18091088.
## Further reading[edit]
* Cherney LR, Gardner P, Logemann JA, et al. (2010). "The role of speech-language pathology and audiology in the optimal management of the service member returning from Iraq or Afghanistan with a blast-related head injury: position of the Communication Sciences and Disorders Clinical Trials Research Group". J Head Trauma Rehabil. 25 (3): 219–24. doi:10.1097/HTR.0b013e3181dc82c1. PMID 20473095.
* Wong PC, Perrachione TK, Gunasekera G, Chandrasekaran B (August 2009). "Communication disorders in speakers of tone languages: etiological bases and clinical considerations". Semin Speech Lang. 30 (3): 162–73. doi:10.1055/s-0029-1225953. PMC 2805066. PMID 19711234.
## External links[edit]
Classification
D
* ICD-10: F80
* ICD-9-CM: 315.3
* MeSH: D003147
* SNOMED CT: 278919001
* Communication Disorders
* Aphasia - National Institute on Deafness and Other Communication Disorders (NIDCD)
* Dysgraphia - National Institute on Deafness and Other Communication Disorders
* Voice and Speech Disorder Online Community (VoiceMatters.net)
* List of communication disorder related links
* Child Language Disorders
* Talking Point Check the progress of your child's language development
Topics related to Communication disorder
* v
* t
* e
Dyslexia and related specific developmental disorders
Conditions
Speech, language, and
communication
* Expressive language disorder
* Infantile speech
* Landau–Kleffner syndrome
* Language disorder
* Lisp
* Mixed receptive-expressive language disorder
* Specific language impairment
* Speech and language impairment
* Speech disorder
* Speech error
* Speech sound disorder
* Stuttering
* Tip of the tongue
Learning disability
* Dyslexia
* Dyscalculia
* Dysgraphia
* Disorder of written expression
Motor
* Developmental coordination disorder
* Developmental verbal dyspraxia
Sensory
* Auditory processing disorder
* Sensory processing disorder
Related topics
* Dyslexia research
* Irlen filters
* Learning Ally
* Learning problems in childhood cancer
* Literacy
* Management of dyslexia
* Multisensory integration
* Neuropsychology
* Reading acquisition
* Spelling
* Writing system
Lists
* Dyslexia in fiction
* Languages by Writing System
* People with dyslexia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Communication disorder
|
c0009460
| 25,296 |
wikipedia
|
https://en.wikipedia.org/wiki/Communication_disorder
| 2021-01-18T19:04:45 |
{"mesh": ["D003147"], "umls": ["C0009460"], "icd-9": ["315.3"], "wikidata": ["Q1058691"]}
|
Disorder of incoherent written rambling
In psychology, graphorrhea, or graphorrhoea, is a communication disorder expressed by excessive wordiness with minor or sometimes incoherent rambling, specifically in written work.[1] Graphorrhea is most commonly associated with schizophrenia[2][3][4][5] but can also result from several psychiatric and neurological disorders such as aphasia, thalamic lesions, temporal lobe epilepsy[6] and mania. Some ramblings may follow some or all grammatical rules but still leave the reader confused and unsure about what the piece is about.
## See also[edit]
* Graphomania
* Hypergraphia
* Lists of language disorders
* Logorrhea
* Schizophasia
* Schizophrenia
* Thought disorder
* Word salad
## References[edit]
1. ^ Colman, Andrew M. (2015). A Dictionary of Psychology. Oxford University Press. p. 322. ISBN 9780199657681.
2. ^ Aldrich, Chris (2002). The Aldrich Dictionary of Phobias and Other Word Families. Trafford Publishing. p. 242. ISBN 9781553698869.
3. ^ Lechtenberg, Richard (1982). The Psychiatrist's Guide to Diseases of the Nervous System. Wiley. p. 115. ISBN 9780471087274.
4. ^ Igakubu, Nihon Daigaku (1971). The Nihon University Journal of Medicine. p. 77.
5. ^ Critchley, Edmund Michael R. (1987). Language and Speech Disorders: A Neurophysiological Approach. CNS. p. 174. ISBN 9781869868703.
6. ^ Hier, Daniel B.; Gorelick, Philip B.; Shindler, Andrea Gellin (1987-01-01). Topics in Behavioral Neurology and Neuropsychology: With Key References. Butterworths. p. 62. ISBN 9780409951653.
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
|
Graphorrhea
|
None
| 25,297 |
wikipedia
|
https://en.wikipedia.org/wiki/Graphorrhea
| 2021-01-18T18:41:54 |
{"wikidata": ["Q18392425"]}
|
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are 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
|
Acromesomelic dysplasia, Grebe type
|
c0265260
| 25,298 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098
| 2021-01-23T18:43:04 |
{"gard": ["1300"], "mesh": ["C537915"], "omim": ["200700"], "umls": ["C0265260"], "icd-10": ["Q78.8"], "synonyms": ["Chondrodysplasia, Grebe type"]}
|
To locate genes that affect total cholesterol, Bielinski et al. (2006) performed a genomewide linkage scan of 9,299 individuals in 2,953 families recruited as part of the Family Blood Pressure Program (FBPP). Significant linkage was found for total cholesterol on chromosome 2 in Hispanic individuals (lod = 3.1 at 43 cM; nearest marker, D2S1360). The authors noted that there are 2 candidate genes known to affect lipid levels in this region, HADHA (600890) and HADHB (143450).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
|
c1853098
| 25,299 |
omim
|
https://www.omim.org/entry/610760
| 2019-09-22T16:04:08 |
{"omim": ["610760"], "synonyms": ["Alternative titles", "CLQTL2"]}
|
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